#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
AHNAK	79026	broad.mit.edu	37	11	62288113	62288113	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62288113C>A	ENST00000378024.4	-	5	14050	c.13776G>T	c.(13774-13776)aaG>aaT	p.K4592N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4592					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATAGAGATCTTCGGTGCCT	0.498																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13774-13776)aaG>aaT		AHNAK nucleoprotein							103.0	103.0	103.0					11																	62288113		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288113C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13776G>T	11.37:g.62288113C>A	ENSP00000367263:p.Lys4592Asn					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K4592N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14050	-		Melanoma(852;0.155)	4592					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13776G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487670	0.44249	.	.	ENSG00000124942	ENST00000378024	T	0.01397	4.94	5.43	2.53	0.30540	.	0.122178	0.56097	D	0.000039	T	0.03959	0.0111	M	0.83852	2.665	0.31530	N	0.661305	D	0.58268	0.982	P	0.50708	0.648	T	0.11036	-1.0604	10	0.66056	D	0.02	.	5.0887	0.14696	0.1459:0.6235:0.0:0.2306	.	4592	Q09666	AHNK_HUMAN	N	4592	ENSP00000367263:K4592N	ENSP00000367263:K4592N	K	-	3	2	AHNAK	62044689	0.000000	0.05858	1.000000	0.80357	0.834000	0.47266	-1.251000	0.02882	0.273000	0.22049	-0.809000	0.03173	AAG		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		36	53	1	0	4.65686e-17	1	6.22576e-17	36	53				
PRDM2	7799	broad.mit.edu	37	1	14106775	14106775	+	Missense_Mutation	SNP	G	G	A	rs578232905		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:14106775G>A	ENST00000235372.7	+	8	3341	c.2485G>A	c.(2485-2487)Ggt>Agt	p.G829S	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.G628S|PRDM2_ENST00000343137.4_Missense_Mutation_p.G628S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G829S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	829					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTTATCCAGCGGTGTCAAACA	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21468	0.0		0.0	False		,,,				2504	0.0					ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(2485-2487)Ggt>Agt		PR domain containing 2, with ZNF domain							72.0	69.0	70.0					1																	14106775		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14106775G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2485G>A	1.37:g.14106775G>A	ENSP00000235372:p.Gly829Ser					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G628S|PRDM2_ENST00000413440.1_Missense_Mutation_p.G628S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G829S	p.G829S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3341	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	829					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2485G>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861742	0.32884	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01279	5.16;5.06;5.08;5.08	5.91	5.91	0.95273	.	0.117084	0.64402	D	0.000009	T	0.02649	0.0080	L	0.43757	1.38	0.53688	D	0.999977	D;D;D;D	0.58268	0.969;0.961;0.961;0.982	B;B;P;P	0.49276	0.401;0.245;0.526;0.605	T	0.57763	-0.7755	10	0.05436	T	0.98	.	18.8623	0.92278	0.0:0.0:1.0:0.0	.	829;687;829;829	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	S	829;829;829;628;628	ENSP00000235372:G829S;ENSP00000312352:G829S;ENSP00000411103:G628S;ENSP00000341621:G628S	ENSP00000235372:G829S	G	+	1	0	PRDM2	13979362	1.000000	0.71417	0.465000	0.27155	0.988000	0.76386	4.792000	0.62467	2.793000	0.96121	0.655000	0.94253	GGT		0.463	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		21	60	0	0	0	1	0	21	60				
ADCY2	108	broad.mit.edu	37	5	7817025	7817025	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7817025C>A	ENST00000338316.4	+	23	3019	c.2930C>A	c.(2929-2931)gCt>gAt	p.A977D	ADCY2_ENST00000537121.1_Missense_Mutation_p.A797D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	977					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						GTGGAGTTTGCTTTTGCCCTG	0.507											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2929-2931)gCt>gAt		adenylate cyclase 2 (brain)							211.0	166.0	181.0					5																	7817025		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.chr5:7817025C>A	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.2930C>A	5.37:g.7817025C>A	ENSP00000342952:p.Ala977Asp		OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	ADCY2_ENST00000537121.1_Missense_Mutation_p.A797D	p.A977D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			23	3019	+			977					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2930C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592190	0.86953	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.58940	0.3;0.3	5.53	5.53	0.82687	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86410	0.5926	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91542	0.5250	10	0.87932	D	0	.	19.4679	0.94950	0.0:1.0:0.0:0.0	.	797;977	B7Z2C1;Q08462	.;ADCY2_HUMAN	D	977;130;810;797	ENSP00000342952:A977D;ENSP00000444803:A797D	ENSP00000342952:A977D	A	+	2	0	ADCY2	7870025	1.000000	0.71417	0.556000	0.28293	0.531000	0.34715	7.539000	0.82063	2.617000	0.88574	0.561000	0.74099	GCT		0.507	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		19	51	1	0	5.35267e-07	1	6.09026e-07	19	51				
SKP1	6500	broad.mit.edu	37	5	133481907	133481907	+	IGR	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:133481907A>G	ENST00000353411.6	-	0	9467				TCF7_ENST00000342854.5_Intron|TCF7_ENST00000432532.2_Intron|TCF7_ENST00000520958.1_Intron|TCF7_ENST00000395023.1_Intron|TCF7_ENST00000321603.6_Missense_Mutation_p.Y364C|TCF7_ENST00000395029.1_Intron|TCF7_ENST00000378560.4_3'UTR	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H2A monoubiquitination (GO:0035518)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul7-RING ubiquitin ligase complex (GO:0031467)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCTTCACTATTCCTAGGAG	0.512											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321603.6																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(1090-1092)tAt>tGt		transcription factor 7 (T-cell specific, HMG-box)							120.0	130.0	127.0					5																	133481907		2203	4300	6503	SO:0001628	intergenic_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133481907A>G	U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558			10899	protein-coding gene	gene with protein product		601434	"""S-phase kinase-associated protein 1A (p19A)"""	SKP1A		7553852, 8646875	Standard	NM_006930		Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117		5.37:g.133481907A>G			OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1603	TCF7_ENST00000520958.1_Intron|TCF7_ENST00000432532.2_Intron|TCF7_ENST00000395023.1_Intron|TCF7_ENST00000395029.1_Intron|TCF7_ENST00000378560.4_3'UTR|TCF7_ENST00000342854.5_Intron	p.Y364C			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1287	+		Breast(839;0.058)	0					D3DQ97|D3DQ98|P34991|Q8TAY2	Missense_Mutation	SNP	ENST00000353411.6	37	c.1091A>G	CCDS4171.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352322	0.61293	.	.	ENSG00000081059	ENST00000321603	D	0.99158	-5.5	5.51	5.51	0.81932	.	.	.	.	.	D	0.96716	0.8928	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	D	0.93584	0.6915	8	0.52906	T	0.07	.	5.9237	0.19096	0.7943:0.0:0.2057:0.0	.	364	P36402-9	.	C	364	ENSP00000326654:Y364C	ENSP00000326654:Y364C	Y	+	2	0	TCF7	133509806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.640000	0.61368	2.091000	0.63221	0.460000	0.39030	TAT		0.512	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251162.2	NM_170679		81	129	0	0	0	1	0	81	129				
COL6A3	1293	broad.mit.edu	37	2	238268776	238268776	+	Silent	SNP	G	G	A	rs34390834		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238268776G>A	ENST00000295550.4	-	17	6689	c.6237C>T	c.(6235-6237)aaC>aaT	p.N2079N	COL6A3_ENST00000346358.4_Silent_p.N1879N|COL6A3_ENST00000347401.3_Silent_p.N1878N|COL6A3_ENST00000353578.4_Silent_p.N1873N|COL6A3_ENST00000472056.1_Silent_p.N1472N|COL6A3_ENST00000409809.1_Silent_p.N1873N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2079	Collagen-like 1.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTGAGTGCCGTTCACACCAG	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19501	0.0		0.0	False		,,,				2504	0.0					ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(6235-6237)aaC>aaT		collagen, type VI, alpha 3		G	,,	1,4405	2.1+/-5.4	0,1,2202	182.0	137.0	152.0		6237,4416,5619	-6.9	0.8	2	dbSNP_126	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	2079/3178,1472/2571,1873/2972	238268776	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238268776G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6237C>T	2.37:g.238268776G>A						COL6A3_ENST00000353578.4_Silent_p.N1873N|COL6A3_ENST00000347401.3_Silent_p.N1878N|COL6A3_ENST00000472056.1_Silent_p.N1472N|COL6A3_ENST00000346358.4_Silent_p.N1879N|COL6A3_ENST00000409809.1_Silent_p.N1873N	p.N2079N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	17	6689	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2079			Collagen-like 1.|Triple-helical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.6237C>T	CCDS33412.1																																																																																				0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		20	31	0	0	0	1	0	20	31				
MUC5B	727897	broad.mit.edu	37	11	1279584	1279584	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1279584G>A	ENST00000529681.1	+	43	16638	c.16580G>A	c.(16579-16581)gGc>gAc	p.G5527D	MUC5B_ENST00000447027.1_Missense_Mutation_p.G5530D	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5527	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGTACAATGGCACCTTCTAC	0.627																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(16588-16590)gGc>gAc		mucin 5B, oligomeric mucus/gel-forming							50.0	58.0	55.0					11																	1279584		2072	4194	6266	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1279584G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16580G>A	11.37:g.1279584G>A	ENSP00000436812:p.Gly5527Asp					MUC5B_ENST00000529681.1_Missense_Mutation_p.G5527D	p.G5530D			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	43	16647	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5527			VWFC 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16589G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	9.101	1.004189	0.19199	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.72615	-0.67;-0.67;-0.67	4.91	1.72	0.24424	.	.	.	.	.	T	0.60612	0.2282	L	0.33339	1.005	0.09310	N	1	P;P	0.46020	0.871;0.871	P;P	0.46479	0.518;0.518	T	0.53165	-0.8477	9	0.87932	D	0	.	3.7086	0.08411	0.2141:0.0:0.5932:0.1926	.	5864;5530	A7Y9J9;E9PBJ0	.;.	D	5527;5530;5471;426;5239;72	ENSP00000436812:G5527D;ENSP00000415793:G5530D;ENSP00000434539:G72D	ENSP00000343037:G5471D	G	+	2	0	MUC5B	1236160	0.003000	0.15002	0.045000	0.18777	0.015000	0.08874	0.981000	0.29526	0.564000	0.29238	0.462000	0.41574	GGC		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	16	0	0	0	1	0	5	16				
VPS16	64601	broad.mit.edu	37	20	2843543	2843543	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2843543C>T	ENST00000380445.3	+	13	1366	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	VPS16_ENST00000380469.3_Intron|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_Missense_Mutation_p.R118W|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	432					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CAATGCTGTTCGGGACTATCA	0.587																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(1294-1296)Cgg>Tgg		vacuolar protein sorting 16 homolog (S. cerevisiae)							125.0	120.0	122.0					20																	2843543		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2843543C>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1294C>T	20.37:g.2843543C>T	ENSP00000369810:p.Arg432Trp					VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.R118W|VPS16_ENST00000481812.2_3'UTR	p.R432W	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			13	1366	+			432					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1294C>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948321	0.73787	.	.	ENSG00000215305	ENST00000380445;ENST00000380443	T;T	0.59772	0.24;0.26	5.08	4.11	0.48088	.	0.064498	0.64402	D	0.000006	T	0.80292	0.4596	M	0.93328	3.405	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	D	0.84850	0.0813	10	0.87932	D	0	-24.4971	12.2042	0.54342	0.1778:0.8222:0.0:0.0	.	118;432	Q5JUA8;Q9H269	.;VPS16_HUMAN	W	432;118	ENSP00000369810:R432W;ENSP00000369808:R118W	ENSP00000369808:R118W	R	+	1	2	VPS16	2791543	0.851000	0.29673	0.943000	0.38184	0.992000	0.81027	1.578000	0.36525	1.308000	0.44962	0.561000	0.74099	CGG		0.587	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		72	105	0	0	0	1	0	72	105				
PTPRO	5800	broad.mit.edu	37	12	15652380	15652380	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15652380C>A	ENST00000281171.4	+	4	843	c.513C>A	c.(511-513)ttC>ttA	p.F171L	PTPRO_ENST00000348962.2_Missense_Mutation_p.F171L|PTPRO_ENST00000543886.1_Missense_Mutation_p.F171L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	171	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCACAGATTTCTTTAAGGGAA	0.328																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(511-513)ttC>ttA		protein tyrosine phosphatase, receptor type, O							74.0	76.0	75.0					12																	15652380		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15652380C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.513C>A	12.37:g.15652380C>A	ENSP00000281171:p.Phe171Leu					PTPRO_ENST00000348962.2_Missense_Mutation_p.F171L|PTPRO_ENST00000543886.1_Missense_Mutation_p.F171L	p.F171L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			4	843	+		Hepatocellular(102;0.244)	171			Fibronectin type-III 2.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.513C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570185	0.65765	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.10382	2.99;2.88	4.99	-0.241	0.13043	.	0.000000	0.50627	D	0.000107	T	0.16128	0.0388	N	0.24115	0.695	0.80722	D	1	D;D;B	0.71674	0.998;0.997;0.001	D;D;B	0.80764	0.994;0.985;0.003	T	0.00839	-1.1545	10	0.62326	D	0.03	.	10.7647	0.46286	0.0:0.5631:0.0:0.4369	.	171;171;171	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	L	171	ENSP00000281171:F171L;ENSP00000343434:F171L	ENSP00000281171:F171L	F	+	3	2	PTPRO	15543647	0.970000	0.33590	0.997000	0.53966	0.951000	0.60555	0.175000	0.16762	0.048000	0.15891	-0.145000	0.13849	TTC		0.328	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			23	26	1	0	9.57634e-11	1	1.18295e-10	23	26				
IGHG3	3502	broad.mit.edu	37	14	106236046	106236046	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106236046G>A	ENST00000390551.2	-	0	757							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CTTTGTTGGAGACCTTGCACT	0.602																																						ENST00000390551.2																			0																				224.0	209.0	214.0					14																	106236046		2121	4217	6338			0							g.chr14:106236046G>A	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236046G>A														0	757	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.602	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		118	250	0	0	0	1	0	118	250				
NBAS	51594	broad.mit.edu	37	2	15555741	15555741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:15555741C>A	ENST00000281513.5	-	25	2891	c.2866G>T	c.(2866-2868)Gaa>Taa	p.E956*	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	956					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTAAATATTCTTTTAATAGC	0.368																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2866-2868)Gaa>Taa		neuroblastoma amplified sequence							68.0	73.0	72.0					2																	15555741		2202	4300	6502	SO:0001587	stop_gained	51594							g.chr2:15555741C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2866G>T	2.37:g.15555741C>A	ENSP00000281513:p.Glu956*					NBAS_ENST00000441750.1_Intron	p.E956*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			25	2891	-			956					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	ENST00000281513.5	37	c.2866G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.871903|9.871903	0.99284|0.99284	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000281513|ENST00000429842	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.043599|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77638	.|0.4160	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73658	.|-0.3913	.|4	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	956|53	.|.	ENSP00000281513:E956X|.	E|R	-|-	1|2	0|0	NBAS|NBAS	15473192|15473192	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.905000|0.905000	0.53344|0.53344	5.653000|5.653000	0.67967|0.67967	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		24	41	1	0	1.55469e-16	1	2.07108e-16	24	41				
ERCC6L	54821	broad.mit.edu	37	X	71425342	71425342	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71425342G>T	ENST00000334463.3	-	2	3410	c.3275C>A	c.(3274-3276)tCt>tAt	p.S1092Y	ERCC6L_ENST00000373657.1_Missense_Mutation_p.S969Y|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1092					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGAAGCCAGAGATCTTCTAGA	0.418																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(2905-2907)tCt>tAt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							71.0	74.0	73.0					X																	71425342		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425342G>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3275C>A	X.37:g.71425342G>T	ENSP00000334675:p.Ser1092Tyr					PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1092Y	p.S969Y			Q2NKX8	ERC6L_HUMAN			3	3508	-	Renal(35;0.156)		1092					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2906C>A	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749909	0.69533	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.95412	-3.65;-3.7	5.58	5.58	0.84498	.	.	.	.	.	D	0.97123	0.9060	M	0.64997	1.995	0.48288	D	0.99962	D	0.89917	1.0	D	0.85130	0.997	D	0.97758	1.0219	9	0.87932	D	0	-11.3583	15.8227	0.78673	0.0:0.0:1.0:0.0	.	1092	Q2NKX8	ERC6L_HUMAN	Y	969;1092	ENSP00000362761:S969Y;ENSP00000334675:S1092Y	ENSP00000334675:S1092Y	S	-	2	0	ERCC6L	71342067	1.000000	0.71417	0.822000	0.32727	0.789000	0.44602	5.179000	0.65043	2.334000	0.79466	0.594000	0.82650	TCT		0.418	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		21	54	1	0	2.37509e-13	1	3.04217e-13	21	54				
DNAH3	55567	broad.mit.edu	37	16	20944632	20944632	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20944632A>C	ENST00000261383.3	-	62	12194	c.12195T>G	c.(12193-12195)taT>taG	p.Y4065*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4065					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGGACACACATAGATGTCCT	0.512																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(12193-12195)taT>taG		dynein, axonemal, heavy chain 3							169.0	166.0	167.0					16																	20944632		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20944632A>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.12195T>G	16.37:g.20944632A>C	ENSP00000261383:p.Tyr4065*					DNAH3_ENST00000415178.1_3'UTR	p.Y4065*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	62	12194	-			4065					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.12195T>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	49	15.656967	0.99841	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.37	-8.26	0.01021	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5631	0.91108	0.3898:0.0:0.6102:0.0	.	.	.	.	X	4065	.	ENSP00000261383:Y4065X	Y	-	3	2	DNAH3	20852133	0.000000	0.05858	0.091000	0.20842	0.161000	0.22273	-0.842000	0.04354	-1.891000	0.01109	-0.912000	0.02778	TAT		0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		12	123	0	0	0	1	0	12	123				
EFCAB5	374786	broad.mit.edu	37	17	28417440	28417440	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28417440G>A	ENST00000394835.3	+	20	3877	c.3685G>A	c.(3685-3687)Gat>Aat	p.D1229N	EFCAB5_ENST00000320856.5_Splice_Site_p.D1105N|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1229							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGATTTCAGAGATTTCCTCTT	0.398																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.e20-1		EF-hand calcium binding domain 5							68.0	73.0	71.0					17																	28417440		1885	4113	5998	SO:0001630	splice_region_variant	374786						calcium ion binding	g.chr17:28417440G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3684-1G>A	17.37:g.28417440G>A						EFCAB5_ENST00000320856.5_Splice_Site_p.D1105_splice|EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA	p.D1229_splice	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			20	3877	+			1229					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Splice_Site	SNP	ENST00000394835.3	37	c.3683_splice	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876692	0.51801	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.15952	2.38;2.42;2.42	5.45	4.48	0.54585	.	0.109432	0.39274	N	0.001408	T	0.28797	0.0714	M	0.74258	2.255	0.80722	D	1	P;P	0.47034	0.889;0.889	B;P	0.47075	0.399;0.536	T	0.08330	-1.0727	10	0.66056	D	0.02	-26.6521	13.1455	0.59459	0.0766:0.0:0.9234:0.0	.	1105;1229	E7EVS9;A4FU69	.;EFCB5_HUMAN	N	1229;1105;911	ENSP00000378312:D1229N;ENSP00000322003:D1105N;ENSP00000417009:D911N	ENSP00000322003:D1105N	D	+	1	0	EFCAB5	25441566	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.516000	0.53436	1.287000	0.44583	0.655000	0.94253	GAT		0.398	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	Missense_Mutation	18	29	0	0	0	1	0	18	29				
MAP3K8	1326	broad.mit.edu	37	10	30740639	30740639	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:30740639A>G	ENST00000263056.1	+	6	1535	c.839A>G	c.(838-840)gAt>gGt	p.D280G	MAP3K8_ENST00000542547.1_Missense_Mutation_p.D280G|MAP3K8_ENST00000375321.1_Missense_Mutation_p.D280G	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ATGACCGAAGATGTCTATTTT	0.328																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(838-840)gAt>gGt		mitogen-activated protein kinase kinase kinase 8							81.0	83.0	82.0					10																	30740639		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30740639A>G	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.839A>G	10.37:g.30740639A>G	ENSP00000263056:p.Asp280Gly					MAP3K8_ENST00000375321.1_Missense_Mutation_p.D280G|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D280G	p.D280G	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			6	1535	+		Prostate(175;0.151)	280			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.839A>G	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431769	0.62844	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.65549	-0.16;-0.16;-0.16	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.137297	0.64402	D	0.000005	T	0.58481	0.2125	L	0.28504	0.86	0.80722	D	1	P	0.38711	0.643	B	0.43889	0.435	T	0.62849	-0.6767	10	0.62326	D	0.03	.	15.7213	0.77713	1.0:0.0:0.0:0.0	.	280	P41279	M3K8_HUMAN	G	280	ENSP00000263056:D280G;ENSP00000443610:D280G;ENSP00000364470:D280G	ENSP00000263056:D280G	D	+	2	0	MAP3K8	30780645	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	8.585000	0.90802	2.098000	0.63641	0.383000	0.25322	GAT		0.328	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		20	35	0	0	0	1	0	20	35				
MKI67	4288	broad.mit.edu	37	10	129901190	129901190	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:129901190C>T	ENST00000368654.3	-	13	9289	c.8914G>A	c.(8914-8916)Gga>Aga	p.G2972R	MKI67_ENST00000368653.3_Missense_Mutation_p.G2612R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2972					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACCACGTCTCCCACGGGTTCT	0.498																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8914-8916)Gga>Aga		marker of proliferation Ki-67							92.0	90.0	91.0					10																	129901190		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901190C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8914G>A	10.37:g.129901190C>T	ENSP00000357643:p.Gly2972Arg					MKI67_ENST00000368653.3_Missense_Mutation_p.G2612R	p.G2972R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9289	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2972					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8914G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608403	0.46527	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01335	5.05;5.0	3.78	3.78	0.43462	.	0.883596	0.09466	N	0.798330	T	0.01592	0.0051	N	0.19112	0.55	0.09310	N	1	B;P;P	0.50617	0.062;0.899;0.937	B;P;B	0.44990	0.047;0.466;0.288	T	0.54899	-0.8224	10	0.17832	T	0.49	.	11.3131	0.49375	0.0:1.0:0.0:0.0	.	2971;2612;2972	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	R	2972;2612;2971	ENSP00000357643:G2972R;ENSP00000357642:G2612R	ENSP00000357642:G2612R	G	-	1	0	MKI67	129791180	0.003000	0.15002	0.025000	0.17156	0.001000	0.01503	1.788000	0.38714	2.123000	0.65237	0.561000	0.74099	GGA		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		35	85	0	0	0	1	0	35	85				
SOWAHC	65124	broad.mit.edu	37	2	110373597	110373597	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:110373597G>A	ENST00000356454.3	+	1	1687	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	511																	ACCTGTTAAAGGCCACTCGCC	0.483																																						ENST00000356454.3																			0											c.(1531-1533)Ggc>Agc		sosondowah ankyrin repeat domain family member C							33.0	35.0	34.0					2																	110373597		2202	4300	6502	SO:0001583	missense	65124							g.chr2:110373597G>A	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1531G>A	2.37:g.110373597G>A	ENSP00000365830:p.Gly511Ser						p.G511S	NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN			1	1687	+			511					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1531G>A	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	G	9.256	1.042087	0.19748	.	.	ENSG00000198142	ENST00000356454	T	0.47869	0.83	4.77	1.38	0.22167	.	2.002530	0.02338	N	0.074606	T	0.35219	0.0924	N	0.24115	0.695	0.23440	N	0.997679	B	0.17465	0.022	B	0.10450	0.005	T	0.15636	-1.0430	10	0.31617	T	0.26	-10.5797	6.6561	0.22988	0.5198:0.0:0.4802:0.0	.	511	Q53LP3	ANR57_HUMAN	S	511	ENSP00000365830:G511S	ENSP00000365830:G511S	G	+	1	0	ANKRD57	109730886	1.000000	0.71417	0.061000	0.19648	0.046000	0.14306	3.380000	0.52448	0.078000	0.16900	0.561000	0.74099	GGC		0.483	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		10	31	0	0	0	1	0	10	31				
PCDHGA8	9708	broad.mit.edu	37	5	140773529	140773529	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140773529C>A	ENST00000398604.2	+	1	1149	c.1149C>A	c.(1147-1149)gtC>gtA	p.V383V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	383	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAAGTTGTCTGTTACACAC	0.363																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1147-1149)gtC>gtA									47.0	45.0	46.0					5																	140773529		1844	4092	5936	SO:0001819	synonymous_variant	0							g.chr5:140773529C>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1149C>A	5.37:g.140773529C>A						PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.V383V	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1149	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1149C>A	CCDS47291.1																																																																																				0.363	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		16	26	1	0	2.32078e-09	1	2.7896e-09	16	26				
ATXN3L	92552	broad.mit.edu	37	X	13337045	13337045	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:13337045C>T	ENST00000380622.2	-	1	1473	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	337					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTGTCGACAGCGGCCTGTACT	0.393																																						ENST00000380622.2																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1009-1011)Gct>Act		ataxin 3-like							172.0	149.0	156.0					X																	13337045		1568	3582	5150	SO:0001583	missense	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337045C>T		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.1009G>A	X.37:g.13337045C>T	ENSP00000369996:p.Ala337Thr					GS1-600G8.3_ENST00000431486.1_RNA	p.A337T	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN			1	1473	-			337					B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	c.1009G>A	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	C	1.948	-0.442039	0.04604	.	.	ENSG00000123594	ENST00000380622	T	0.23950	1.88	0.793	-1.3	0.09259	.	0.075019	0.56097	N	0.000038	T	0.10121	0.0248	N	0.12746	0.255	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.14504	-1.0470	9	0.31617	T	0.26	.	.	.	.	.	337	Q9H3M9	ATX3L_HUMAN	T	337	ENSP00000369996:A337T	ENSP00000369996:A337T	A	-	1	0	ATXN3L	13246966	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-2.478000	0.00984	-0.798000	0.04444	-1.606000	0.00808	GCT		0.393	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		37	38	0	0	0	1	0	37	38				
FBXL19	54620	broad.mit.edu	37	16	30939819	30939819	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30939819A>C	ENST00000380310.2	+	6	877	c.719A>C	c.(718-720)aAg>aCg	p.K240T	FBXL19_ENST00000338343.4_Missense_Mutation_p.K220T|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000565690.1_Splice_Site_p.K147T|FBXL19_ENST00000562319.1_Missense_Mutation_p.K220T	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	240	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CACCTGAAGAAGGTGGGTGGA	0.627																																						ENST00000338343.4																			0				breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(658-660)aAg>aCg		F-box and leucine-rich repeat protein 19							25.0	29.0	28.0					16																	30939819		1905	4124	6029	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30939819A>C	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.719A>C	16.37:g.30939819A>C	ENSP00000369666:p.Lys240Thr					FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000380310.2_Missense_Mutation_p.K240T|FBXL19_ENST00000562319.1_Missense_Mutation_p.K220T|FBXL19_ENST00000565690.1_Splice_Site_p.K147_splice	p.K220T			Q6PCT2	FXL19_HUMAN			6	1046	+			240			Pro-rich.		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.659A>C	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.06|11.06	1.526416|1.526416	0.27299|0.27299	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.32023	.|1.47;1.78	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|1.921710	.|0.02503	.|N	.|0.090697	T|T	0.41259|0.41259	0.1151|0.1151	N|N	0.08118|0.08118	0|0	0.40374|0.40374	D|D	0.979378|0.979378	.|D;D	.|0.64830	.|0.994;0.968	.|D;D	.|0.73708	.|0.981;0.969	T|T	0.18555|0.18555	-1.0333|-1.0333	5|10	.|0.59425	.|D	.|0.04	-17.0126|-17.0126	12.2983|12.2983	0.54860|0.54860	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|240;240	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	D|T	174|220;240	.|ENSP00000339712:K220T;ENSP00000369666:K240T	.|ENSP00000339712:K220T	E|K	+|+	3|2	2|0	FBXL19|FBXL19	30847320|30847320	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.567000|4.567000	0.60850|0.60850	1.900000|1.900000	0.55004|0.55004	0.392000|0.392000	0.25879|0.25879	GAA|AAG		0.627	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		12	15	0	0	0	1	0	12	15				
NSMCE2	286053	broad.mit.edu	37	8	126194402	126194402	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:126194402T>A	ENST00000287437.3	+	5	538	c.322T>A	c.(322-324)Ttt>Att	p.F108I	NSMCE2_ENST00000522563.1_Missense_Mutation_p.F108I|NSMCE2_ENST00000517315.1_Missense_Mutation_p.F48I	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	108				F -> L (in Ref. 1; BAB71338). {ECO:0000305}.	cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGAGAAGAAATTTTTGGCTTT	0.294																																						ENST00000287437.3																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(322-324)Ttt>Att		non-SMC element 2, MMS21 homolog (S. cerevisiae)							54.0	63.0	60.0					8																	126194402		2200	4296	6496	SO:0001583	missense	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126194402T>A	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.322T>A	8.37:g.126194402T>A	ENSP00000287437:p.Phe108Ile					NSMCE2_ENST00000522563.1_Missense_Mutation_p.F108I|NSMCE2_ENST00000517315.1_Missense_Mutation_p.F48I	p.F108I	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		5	538	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		108	F -> L (in Ref. 1; BAB71338).				Q8N549	Missense_Mutation	SNP	ENST00000287437.3	37	c.322T>A	CCDS6356.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.093230	0.56075	.	.	ENSG00000156831	ENST00000523741;ENST00000517532;ENST00000287437;ENST00000522563;ENST00000517315	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.77	4.62	0.57501	.	0.000000	0.64402	D	0.000001	T	0.49372	0.1553	M	0.63843	1.955	0.39780	D	0.972282	P;D	0.61080	0.826;0.989	B;P	0.56088	0.292;0.791	T	0.44757	-0.9307	10	0.20046	T	0.44	.	9.5579	0.39351	0.0:0.0822:0.0:0.9178	.	108;108	Q96MF7;E5RHW9	NSE2_HUMAN;.	I	108;108;108;108;48	ENSP00000429383:F108I;ENSP00000429612:F108I;ENSP00000287437:F108I;ENSP00000430668:F108I;ENSP00000428846:F48I	ENSP00000287437:F108I	F	+	1	0	NSMCE2	126263584	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.011000	0.49567	2.330000	0.79161	0.477000	0.44152	TTT		0.294	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1	NM_173685		4	72	0	0	0	1	0	4	72				
FSCB	84075	broad.mit.edu	37	14	44975624	44975624	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:44975624C>A	ENST00000340446.4	-	1	858	c.567G>T	c.(565-567)aaG>aaT	p.K189N	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	189						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TAGCAAAAATCTTTCCCGACG	0.378																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(565-567)aaG>aaT		fibrous sheath CABYR binding protein							139.0	145.0	143.0					14																	44975624		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975624C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.567G>T	14.37:g.44975624C>A	ENSP00000344579:p.Lys189Asn						p.K189N	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	858	-			189					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.567G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	1.384	-0.582507	0.03827	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.23348	1.91	4.6	0.458	0.16670	.	.	.	.	.	T	0.13927	0.0337	N	0.25647	0.755	0.09310	N	1	B	0.22909	0.077	B	0.21917	0.037	T	0.31392	-0.9945	9	0.23891	T	0.37	-0.0152	3.1862	0.06602	0.1429:0.5454:0.1396:0.172	.	189	Q5H9T9	FSCB_HUMAN	N	189	ENSP00000344579:K189N	ENSP00000344579:K189N	K	-	3	2	FSCB	44045374	0.001000	0.12720	0.003000	0.11579	0.028000	0.11728	-0.270000	0.08584	0.120000	0.18254	0.655000	0.94253	AAG		0.378	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		35	92	1	0	3.90053e-15	1	5.12206e-15	35	92				
DNER	92737	broad.mit.edu	37	2	230411675	230411675	+	Silent	SNP	C	C	T	rs375308811	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230411675C>T	ENST00000341772.4	-	5	1115	c.981G>A	c.(979-981)acG>acA	p.T327T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	327	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTGACGGCTTCGTGGTGCATT	0.453													C|||	3	0.000599042	0.0023	0.0	5008	,	,		22451	0.0		0.0	False		,,,				2504	0.0					ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(979-981)acG>acA		delta/notch-like EGF repeat containing		C		1,4405	2.1+/-5.4	0,1,2202	209.0	170.0	183.0		981	-2.0	1.0	2		183	0,8600		0,0,4300	no	coding-synonymous	DNER	NM_139072.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		327/738	230411675	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230411675C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.981G>A	2.37:g.230411675C>T							p.T327T	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	5	1115	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	327			EGF-like 3.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	c.981G>A	CCDS33390.1																																																																																				0.453	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		45	80	0	0	0	1	0	45	80				
KCND2	3751	broad.mit.edu	37	7	119914842	119914842	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:119914842C>T	ENST00000331113.4	+	1	1121	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	52					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCACCCGCTTCCAGACGTGGC	0.567																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(154-156)ttC>ttT		potassium voltage-gated channel, Shal-related subfamily, member 2							129.0	137.0	134.0					7																	119914842		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914842C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.156C>T	7.37:g.119914842C>T							p.F52F	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1121	+	all_neural(327;0.117)		52					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.156C>T	CCDS5776.1																																																																																				0.567	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		93	184	0	0	0	1	0	93	184				
PCDHGA12	26025	broad.mit.edu	37	5	140811516	140811516	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140811516C>A	ENST00000252085.3	+	1	1332	c.1190C>A	c.(1189-1191)tCt>tAt	p.S397Y	PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGAAAAATCTTACGGAAAT	0.413																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1189-1191)tCt>tAt									41.0	47.0	45.0					5																	140811516		2202	4300	6502	SO:0001583	missense	0							g.chr5:140811516C>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1190C>A	5.37:g.140811516C>A	ENSP00000252085:p.Ser397Tyr					PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.S397Y	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1332	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1190C>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.246886	0.39697	.	.	ENSG00000253159	ENST00000252085	T	0.59224	0.28	4.84	3.89	0.44902	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79015	0.4375	M	0.89478	3.035	0.09310	N	1	D;D	0.76494	0.999;0.978	D;D	0.68621	0.959;0.951	T	0.70612	-0.4824	9	0.87932	D	0	.	15.3647	0.74510	0.1488:0.8512:0.0:0.0	.	397;397	O60330-2;O60330	.;PCDGC_HUMAN	Y	397	ENSP00000252085:S397Y	ENSP00000252085:S397Y	S	+	2	0	PCDHGA12	140791700	0.001000	0.12720	1.000000	0.80357	0.830000	0.47004	1.592000	0.36676	2.506000	0.84524	0.655000	0.94253	TCT		0.413	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		22	39	1	0	5.26018e-13	1	6.70247e-13	22	39				
IMPG1	3617	broad.mit.edu	37	6	76728558	76728558	+	Silent	SNP	G	G	A	rs201624566	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:76728558G>A	ENST00000369950.3	-	7	873	c.684C>T	c.(682-684)ttC>ttT	p.F228F	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAACACAGCGAATTCTGTTT	0.413													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14554	0.001		0.0	False		,,,				2504	0.0				Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(682-684)ttC>ttT		interphotoreceptor matrix proteoglycan 1		G		0,4406		0,0,2203	66.0	64.0	65.0		684	-0.2	0.0	6	dbSNP_134	65	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	IMPG1	NM_001563.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		228/798	76728558	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76728558G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.684C>T	6.37:g.76728558G>A						IMPG1_ENST00000369963.3_3'UTR	p.F228F	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			7	873	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	228						Silent	SNP	ENST00000369950.3	37	c.684C>T	CCDS4985.1																																																																																				0.413	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		11	27	0	0	0	1	0	11	27				
FIG4	9896	broad.mit.edu	37	6	110062741	110062741	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110062741C>A	ENST00000230124.3	+	8	994	c.870C>A	c.(868-870)aaC>aaA	p.N290K	FIG4_ENST00000368941.1_Intron|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	290	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GAGGTGCAAACTGTGAGGTAA	0.383																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(868-870)aaC>aaA		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							114.0	115.0	115.0					6																	110062741		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110062741C>A	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.870C>A	6.37:g.110062741C>A	ENSP00000230124:p.Asn290Lys					FIG4_ENST00000368941.1_Intron|FIG4_ENST00000441478.2_Intron	p.N290K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	8	994	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	290			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.870C>A	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554702	0.65425	.	.	ENSG00000112367	ENST00000230124	T	0.63096	-0.02	5.07	4.2	0.49525	Synaptojanin, N-terminal (2);	0.160214	0.53938	D	0.000056	T	0.78685	0.4322	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82581	-0.0386	10	0.87932	D	0	-21.1485	8.237	0.31631	0.0:0.702:0.0:0.298	.	290	Q92562	FIG4_HUMAN	K	290	ENSP00000230124:N290K	ENSP00000230124:N290K	N	+	3	2	FIG4	110169434	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.580000	0.36547	1.131000	0.42111	0.650000	0.86243	AAC		0.383	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		30	44	1	0	7.26314e-15	1	9.49782e-15	30	44				
TTN	7273	broad.mit.edu	37	2	179640269	179640269	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179640269C>T	ENST00000591111.1	-	28	6546	c.6322G>A	c.(6322-6324)Gaa>Aaa	p.E2108K	TTN_ENST00000589042.1_Missense_Mutation_p.E2108K|TTN_ENST00000342992.6_Missense_Mutation_p.E2108K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E2108K|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2062K|TTN_ENST00000359218.5_Missense_Mutation_p.E2062K|TTN_ENST00000342175.6_Missense_Mutation_p.E2062K			Q8WZ42	TITIN_HUMAN	titin	12796	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCACATTCGGGGTCTGGT	0.473																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6322-6324)Gaa>Aaa		titin							75.0	80.0	79.0					2																	179640269		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640269C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6322G>A	2.37:g.179640269C>T	ENSP00000465570:p.Glu2108Lys					TTN_ENST00000342175.6_Missense_Mutation_p.E2062K|TTN_ENST00000359218.5_Missense_Mutation_p.E2062K|TTN_ENST00000342992.6_Missense_Mutation_p.E2108K|TTN_ENST00000360870.5_Missense_Mutation_p.E2108K|TTN_ENST00000460472.2_Missense_Mutation_p.E2062K|TTN_ENST00000591111.1_Missense_Mutation_p.E2108K	p.E2108K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6546	-			1871			Ig-like 10.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6322G>A		.	.	.	.	.	.	.	.	.	.	C	15.28	2.785358	0.49997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78622	0.4312	L	0.48260	1.515	0.41730	D	0.989558	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.80659	-0.1284	9	0.87932	D	0	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	2062;2062;2062;2108;2108	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	2108;2062;2062;2062;2062;2108	ENSP00000343764:E2108K;ENSP00000434586:E2062K;ENSP00000340554:E2062K;ENSP00000352154:E2062K;ENSP00000354117:E2108K	ENSP00000340554:E2062K	E	-	1	0	TTN	179348514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.503000	0.84419	0.655000	0.94253	GAA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	31	0	0	0	1	0	23	31				
CIPC	85457	broad.mit.edu	37	14	77580149	77580149	+	Missense_Mutation	SNP	G	G	A	rs373673890		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77580149G>A	ENST00000361786.2	+	4	1005	c.688G>A	c.(688-690)Ggt>Agt	p.G230S	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		230					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGCTCTGCAGGGTGTGCCCTC	0.617																																						ENST00000361786.2																			0				endometrium(2)|lung(4)|prostate(3)	9						c.(688-690)Ggt>Agt		KIAA1737		G	SER/GLY	0,4406		0,0,2203	58.0	49.0	52.0		688	4.3	1.0	14		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1737	NM_033426.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	230/400	77580149	1,13005	2203	4300	6503	SO:0001583	missense	85457							g.chr14:77580149G>A																												ENST00000361786.2:c.688G>A	14.37:g.77580149G>A	ENSP00000355319:p.Gly230Ser					RP11-463C8.4_ENST00000557752.1_Intron	p.G230S	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	4	1005	+			230					B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	c.688G>A	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054414	0.36277	0.0	1.16E-4	ENSG00000198894	ENST00000361786	T	0.28454	1.61	5.45	4.32	0.51571	.	0.129529	0.50627	D	0.000105	T	0.12817	0.0311	N	0.05124	-0.11	0.80722	D	1	B;B	0.21753	0.06;0.06	B;B	0.20184	0.028;0.028	T	0.13072	-1.0523	10	0.27785	T	0.31	-25.9272	5.4778	0.16706	0.1919:0.0:0.8081:0.0	.	230;132	Q9C0C6;B3KU75	K1737_HUMAN;.	S	230	ENSP00000355319:G230S	ENSP00000355319:G230S	G	+	1	0	KIAA1737	76649902	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.347000	0.52200	2.724000	0.93272	0.455000	0.32223	GGT		0.617	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			23	47	0	0	0	1	0	23	47				
SKOR1	390598	broad.mit.edu	37	15	68118465	68118465	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68118465T>C	ENST00000380035.2	+	2	357	c.299T>C	c.(298-300)cTg>cCg	p.L100P	SKOR1_ENST00000554240.1_Missense_Mutation_p.L61P|SKOR1_ENST00000554054.1_Missense_Mutation_p.L72P|SKOR1_ENST00000389002.1_Missense_Mutation_p.L91P|SKOR1_ENST00000341418.5_Missense_Mutation_p.L286P			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	100					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGCCTATGCCTGGCGCAGATC	0.627																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(298-300)cTg>cCg		SKI family transcriptional corepressor 1							79.0	72.0	74.0					15																	68118465		2200	4298	6498	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118465T>C		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.299T>C	15.37:g.68118465T>C	ENSP00000369374:p.Leu100Pro					SKOR1_ENST00000554054.1_Missense_Mutation_p.L72P|SKOR1_ENST00000554240.1_Missense_Mutation_p.L61P|SKOR1_ENST00000341418.5_Missense_Mutation_p.L286P|SKOR1_ENST00000389002.1_Missense_Mutation_p.L91P	p.L100P			P84550	SKOR1_HUMAN			2	357	+			100					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.299T>C		.	.	.	.	.	.	.	.	.	.	T	18.11	3.550729	0.65311	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87	4.93	3.8	0.43715	.	0.091063	0.47093	D	0.000244	D	0.94997	0.8381	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94482	0.7694	10	0.87932	D	0	-14.9816	10.8087	0.46533	0.0:0.0:0.1593:0.8407	.	91	P84550-3	.	P	286;61;72;100;91	ENSP00000343200:L286P;ENSP00000451193:L61P;ENSP00000452361:L72P;ENSP00000369374:L100P;ENSP00000373654:L91P	ENSP00000343200:L286P	L	+	2	0	SKOR1	65905519	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.919000	0.87513	0.715000	0.32103	0.459000	0.35465	CTG		0.627	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		6	76	0	0	0	1	0	6	76				
JMJD8	339123	broad.mit.edu	37	16	733859	733859	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:733859A>G	ENST00000293882.4	-	3	435		c.e3+1		JMJD8_ENST00000454700.1_Splice_Site|JMJD8_ENST00000412368.2_Splice_Site|JMJD8_ENST00000609261.1_Splice_Site|JMJD8_ENST00000562824.1_Splice_Site|JMJD8_ENST00000562111.1_Splice_Site			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						GCACGCGCTCACCGAGTTGTC	0.731																																						ENST00000293882.4																			0				breast(1)	1						c.e3+1		jumonji domain containing 8							8.0	12.0	11.0					16																	733859		1945	4093	6038	SO:0001630	splice_region_variant	339123							g.chr16:733859A>G		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.435+1T>C	16.37:g.733859A>G						JMJD8_ENST00000454700.1_Splice_Site|JMJD8_ENST00000562824.1_Splice_Site|JMJD8_ENST00000562111.1_Splice_Site|JMJD8_ENST00000412368.2_Splice_Site				Q96S16	JMJD8_HUMAN			3	435	-								B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Splice_Site	SNP	ENST00000293882.4	37			.	.	.	.	.	.	.	.	.	.	a	13.42	2.231020	0.39399	.	.	ENSG00000161999	ENST00000412368;ENST00000293882;ENST00000454700	.	.	.	3.79	2.7	0.31948	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8392	0.29389	0.8973:0.0:0.1027:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JMJD8	673860	1.000000	0.71417	0.989000	0.46669	0.751000	0.42716	7.349000	0.79376	0.540000	0.28808	0.375000	0.23000	.		0.731	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920	Intron	4	8	0	0	0	1	0	4	8				
PRDM7	11105	broad.mit.edu	37	16	90124880	90124880	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:90124880G>T	ENST00000449207.2	-	10	1315	c.1296C>A	c.(1294-1296)ttC>ttA	p.F432L	PRDM7_ENST00000325921.6_Missense_Mutation_p.S132Y|PRDM7_ENST00000407825.1_Missense_Mutation_p.S132Y	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	432					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGTTGACTGAGAAATTTTTGA	0.463																																						ENST00000407825.1																			0				lung(2)|ovary(2)|stomach(1)	5						c.(394-396)tCt>tAt		PR domain containing 7							146.0	139.0	142.0					16																	90124880		2198	4300	6498	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90124880G>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1296C>A	16.37:g.90124880G>T	ENSP00000396732:p.Phe432Leu					PRDM7_ENST00000325921.6_Missense_Mutation_p.S132Y|PRDM7_ENST00000449207.2_Missense_Mutation_p.F432L	p.S132Y			Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1032	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	340					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.395C>A	CCDS45557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.62|12.62	1.993927|1.993927	0.35131|0.35131	.|.	.|.	ENSG00000126856|ENSG00000126856	ENST00000449207|ENST00000325921;ENST00000407825	T|T;T	0.14022|0.41758	2.54|0.99;0.99	2.04|2.04	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|T	0.26231|0.26231	0.0640|0.0640	.|.	.|.	.|.	0.22253|0.22253	N|N	0.999257|0.999257	B|B	0.15930|0.09022	0.015|0.002	B|B	0.09377|0.10450	0.004|0.005	T|T	0.15263|0.15263	-1.0443|-1.0443	7|7	.|.	.|.	.|.	0.9939|0.9939	10.1192|10.1192	0.42609|0.42609	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	432|132	Q9NQW5|Q9NQW5-2	PRDM7_HUMAN|.	L|Y	432|132	ENSP00000396732:F432L|ENSP00000315512:S132Y;ENSP00000385121:S132Y	.|.	F|S	-|-	3|2	2|0	PRDM7|PRDM7	88652381|88652381	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.659000|0.659000	0.38960|0.38960	1.350000|1.350000	0.34010|0.34010	1.471000|1.471000	0.48121|0.48121	0.467000|0.467000	0.42956|0.42956	TTC|TCT		0.463	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			36	85	1	0	3.3946e-10	1	4.15224e-10	36	85				
OXTR	5021	broad.mit.edu	37	3	8809319	8809319	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8809319G>A	ENST00000316793.3	-	3	1179	c.555C>T	c.(553-555)ttC>ttT	p.F185F	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	185					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	CCCAGCAGTCGAAGACGCCGT	0.662																																						ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(553-555)ttC>ttT		oxytocin receptor	Carbetocin(DB01282)						48.0	51.0	50.0					3																	8809319		2203	4300	6503	SO:0001819	synonymous_variant	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8809319G>A		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.555C>T	3.37:g.8809319G>A						CAV3_ENST00000472766.1_Intron	p.F185F	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	3	1179	-			185					Q15071	Silent	SNP	ENST00000316793.3	37	c.555C>T	CCDS2570.1																																																																																				0.662	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			43	54	0	0	0	1	0	43	54				
CDH13	1012	broad.mit.edu	37	16	83816998	83816998	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:83816998C>A	ENST00000566620.1	+	13	2345	c.2055C>A	c.(2053-2055)tcC>tcA	p.S685S	CDH13_ENST00000268613.10_Silent_p.S732S|CDH13_ENST00000428848.3_Silent_p.S646S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	685	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GCAGGAATTCCAAAGTGGACT	0.532																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(2053-2055)tcC>tcA		cadherin 13							94.0	93.0	93.0					16																	83816998		1998	4167	6165	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83816998C>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2055C>A	16.37:g.83816998C>A						CDH13_ENST00000428848.3_Silent_p.S646S|CDH13_ENST00000268613.10_Silent_p.S732S	p.S685S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	13	2345	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	685			Cadherin 5.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.2055C>A	CCDS58486.1																																																																																				0.532	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		8	76	1	0	0.0381472	1	0.0387537	8	76				
CYP4F2	8529	broad.mit.edu	37	19	15997104	15997104	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15997104C>A	ENST00000221700.6	-	8	1028	c.933G>T	c.(931-933)aaG>aaT	p.K311N	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGATAACTTCTTCCCGTCTT	0.532																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(931-933)aaG>aaT		cytochrome P450, family 4, subfamily F, polypeptide 2							181.0	182.0	182.0					19																	15997104		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15997104C>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.933G>T	19.37:g.15997104C>A	ENSP00000221700:p.Lys311Asn					CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Missense_Mutation_p.K311N	p.K311N	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			8	1028	-			311						Missense_Mutation	SNP	ENST00000221700.6	37	c.933G>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	0.496	-0.873323	0.02570	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.69685	-0.42	2.73	1.66	0.24008	.	0.992745	0.08160	U	0.988700	T	0.54759	0.1878	L	0.37507	1.11	0.28076	N	0.932391	B	0.15719	0.014	B	0.29077	0.098	T	0.49588	-0.8924	10	0.35671	T	0.21	.	3.4829	0.07609	0.2466:0.6089:0.0:0.1445	.	311	P78329	CP4F2_HUMAN	N	311;162	ENSP00000221700:K311N	ENSP00000221700:K311N	K	-	3	2	CYP4F2	15858104	0.000000	0.05858	0.358000	0.25811	0.054000	0.15201	-1.001000	0.03690	0.454000	0.26884	0.313000	0.20887	AAG		0.532	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		97	158	1	0	9.72315e-31	1	1.38941e-30	97	158				
GOLGB1	2804	broad.mit.edu	37	3	121410023	121410023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121410023C>A	ENST00000340645.5	-	14	8298	c.8173G>T	c.(8173-8175)Gaa>Taa	p.E2725*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E2730*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2725					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTTTATTTTCTTTGGTGACC	0.398																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8188-8190)Gaa>Taa		golgin B1							233.0	239.0	237.0					3																	121410023		2203	4300	6503	SO:0001587	stop_gained	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410023C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8173G>T	3.37:g.121410023C>A	ENSP00000341848:p.Glu2725*					GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.E2725*	p.E2730*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8298	-			2725					B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	c.8188G>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	49	15.016621	0.99819	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.72	4.85	0.62838	.	0.091282	0.47852	D	0.000215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	12.2564	0.54627	0.0:0.9179:0.0:0.0821	.	.	.	.	X	2725;2730	.	ENSP00000341848:E2725X	E	-	1	0	GOLGB1	122892713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	1.412000	0.46977	0.655000	0.94253	GAA		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		61	116	1	0	2.50483e-33	1	3.59302e-33	61	116				
CCDC114	93233	broad.mit.edu	37	19	48800598	48800598	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48800598T>C	ENST00000315396.7	-	14	2330	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	550					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCTCTGCTAGTCTTGTGGCTC	0.647																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1648-1650)Act>Gct		coiled-coil domain containing 114							47.0	51.0	50.0					19																	48800598		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48800598T>C	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1648A>G	19.37:g.48800598T>C	ENSP00000318429:p.Thr550Ala						p.T550A	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2330	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	550					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1648A>G	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	T	12.62	1.992575	0.35131	.	.	ENSG00000105479	ENST00000315396	T	0.35605	1.3	2.56	0.372	0.16173	.	.	.	.	.	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.23128	0.08	B	0.22601	0.04	T	0.22277	-1.0221	9	0.34782	T	0.22	-0.9602	4.7349	0.12982	0.0:0.3034:0.0:0.6966	.	550	Q96M63	CC114_HUMAN	A	550	ENSP00000318429:T550A	ENSP00000318429:T550A	T	-	1	0	CCDC114	53492410	0.050000	0.20438	0.001000	0.08648	0.013000	0.08279	0.641000	0.24720	-0.005000	0.14395	0.459000	0.35465	ACT		0.647	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		7	92	0	0	0	1	0	7	92				
PLPPR4	9890	broad.mit.edu	37	1	99771407	99771407	+	Missense_Mutation	SNP	G	G	A	rs201281186		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99771407G>A	ENST00000370185.3	+	7	1630	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	LPPR4_ENST00000370184.1_Missense_Mutation_p.R220Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.R320Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		378					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)		ATCCTCAACCGAAACCACAGA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		21057	0.001		0.0	False		,,,				2504	0.0					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.(1132-1134)cGa>cAa									92.0	90.0	90.0					1																	99771407		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99771407G>A																												ENST00000370185.3:c.1133G>A	1.37:g.99771407G>A	ENSP00000359204:p.Arg378Gln					LPPR4_ENST00000370184.1_Missense_Mutation_p.R220Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.R320Q	p.R378Q	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	1630	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	378					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1133G>A	CCDS757.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.39	1.337757	0.24253	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.24538	2.42;2.35;1.85	5.71	5.71	0.89125	.	0.255371	0.34338	N	0.004059	T	0.35307	0.0927	L	0.47716	1.5	0.26066	N	0.98128	D;P	0.76494	0.999;0.676	D;B	0.77557	0.99;0.195	T	0.11036	-1.0604	9	.	.	.	-15.1208	19.8478	0.96722	0.0:0.0:1.0:0.0	.	320;378	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Q	378;320;378;220	ENSP00000359204:R378Q;ENSP00000394913:R320Q;ENSP00000359203:R220Q	.	R	+	2	0	RP4-788L13.1	99543995	1.000000	0.71417	0.991000	0.47740	0.494000	0.33585	5.033000	0.64146	2.685000	0.91497	0.650000	0.86243	CGA		0.458	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			26	51	0	0	0	1	0	26	51				
TRPC5	7224	broad.mit.edu	37	X	111078180	111078180	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111078180G>T	ENST00000262839.2	-	7	2783	c.1865C>A	c.(1864-1866)gCt>gAt	p.A622D		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	622					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTCATCATAGCAATCAGCAT	0.448																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1864-1866)gCt>gAt		transient receptor potential cation channel, subfamily C, member 5							271.0	217.0	235.0					X																	111078180		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111078180G>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1865C>A	X.37:g.111078180G>T	ENSP00000262839:p.Ala622Asp						p.A622D	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			7	2783	-			622					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1865C>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673864	0.88445	.	.	ENSG00000072315	ENST00000262839	D	0.99270	-5.66	5.67	4.8	0.61643	Ion transport (1);	0.049197	0.85682	D	0.000000	D	0.99533	0.9833	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98036	1.0379	10	0.87932	D	0	-11.586	15.6406	0.76997	0.0:0.1341:0.8659:0.0	.	623;622	Q59G51;Q9UL62	.;TRPC5_HUMAN	D	622	ENSP00000262839:A622D	ENSP00000262839:A622D	A	-	2	0	TRPC5	110964836	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.810000	0.99221	1.125000	0.41998	0.544000	0.68410	GCT		0.448	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		85	163	1	0	7.14593e-30	1	1.01984e-29	85	163				
PLCXD3	345557	broad.mit.edu	37	5	41313764	41313764	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41313764G>T	ENST00000377801.3	-	3	995	c.921C>A	c.(919-921)gtC>gtA	p.V307V	PLCXD3_ENST00000328457.3_Silent_p.V307V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	307					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGAGCTTTATGACAGTGCTGA	0.448																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(919-921)gtC>gtA		phosphatidylinositol-specific phospholipase C, X domain containing 3							125.0	111.0	116.0					5																	41313764		2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313764G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.921C>A	5.37:g.41313764G>T						PLCXD3_ENST00000328457.3_Silent_p.V307V	p.V307V			Q63HM9	PLCX3_HUMAN			3	995	-			307					A6NL04	Silent	SNP	ENST00000377801.3	37	c.921C>A	CCDS34150.1																																																																																				0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		15	32	1	0	7.93312e-07	1	8.98086e-07	15	32				
PRUNE2	158471	broad.mit.edu	37	9	79520871	79520871	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79520871T>C	ENST00000376718.3	-	1	132	c.9A>G	c.(7-9)gaA>gaG	p.E3E	PRUNE2_ENST00000376713.3_Silent_p.E3E|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3					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						GTTGCAAAAATTCTTCCATGT	0.557																																						ENST00000376718.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7-9)gaA>gaG		prune homolog 2 (Drosophila)							130.0	116.0	121.0					9																	79520871		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79520871T>C	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.9A>G	9.37:g.79520871T>C						PRUNE2_ENST00000376713.3_Silent_p.E3E|PRUNE2_ENST00000428286.1_5'UTR	p.E3E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN			1	132	-			3					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.9A>G	CCDS47982.1																																																																																				0.557	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		35	48	0	0	0	1	0	35	48				
REG1P	5969	broad.mit.edu	37	2	79364086	79364086	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:79364086G>T	ENST00000444841.1	-	0	285									regenerating islet-derived 1 pseudogene																		ACTCAGTGAAGGAGGAAAGTG	0.498																																						ENST00000444841.1																			0																																																			0							g.chr2:79364086G>T			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79364086G>T														0	285	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.498	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		11	46	1	0	3.86212e-05	1	4.21111e-05	11	46				
TRA2A	29896	broad.mit.edu	37	7	23556145	23556145	+	Missense_Mutation	SNP	G	G	A	rs201730738		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23556145G>A	ENST00000297071.4	-	3	389	c.173C>T	c.(172-174)tCg>tTg	p.S58L	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	58	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CCTTGACCTCGACCTTTGAGA	0.398																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(172-174)tCg>tTg		transformer 2 alpha homolog (Drosophila)							113.0	99.0	104.0					7																	23556145		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23556145G>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.173C>T	7.37:g.23556145G>A	ENSP00000297071:p.Ser58Leu					TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	p.S58L	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			3	389	-			58			Arg/Ser-rich (RS1 domain).		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.173C>T	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752777	0.89753	.	.	ENSG00000164548	ENST00000297071	T	0.33216	1.42	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.51710	-0.8671	10	0.39692	T	0.17	-1.9214	20.147	0.98082	0.0:0.0:1.0:0.0	.	58	Q13595	TRA2A_HUMAN	L	58	ENSP00000297071:S58L	ENSP00000297071:S58L	S	-	2	0	TRA2A	23522670	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.592000	0.82676	2.770000	0.95276	0.405000	0.27470	TCG		0.398	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		13	30	0	0	0	1	0	13	30				
ZCCHC6	79670	broad.mit.edu	37	9	88955947	88955947	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88955947A>C	ENST00000375963.3	-	7	1280	c.1108T>G	c.(1108-1110)Tta>Gta	p.L370V	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.L370V|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.L8V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	370					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TGAACAAGTAAGAGGACATCT	0.313																																						ENST00000375961.2																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1108-1110)Tta>Gta		zinc finger, CCHC domain containing 6							101.0	106.0	104.0					9																	88955947		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88955947A>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1108T>G	9.37:g.88955947A>C	ENSP00000365130:p.Leu370Val					ZCCHC6_ENST00000375948.1_Missense_Mutation_p.L8V|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.L370V|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Intron	p.L370V			Q5VYS8	TUT7_HUMAN			7	1322	-			370					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1108T>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177288	0.57692	.	.	ENSG00000083223	ENST00000375961;ENST00000375963;ENST00000375948	T;T;T	0.38560	1.13;1.13;1.13	5.16	2.8	0.32819	.	0.000000	0.64402	D	0.000001	T	0.51109	0.1655	L	0.59436	1.845	0.39966	D	0.974722	D;D;D	0.71674	0.998;0.996;0.959	D;D;P	0.68765	0.96;0.922;0.631	T	0.51356	-0.8716	10	0.10111	T	0.7	-21.2361	9.54	0.39246	0.8563:0.0:0.1437:0.0	.	370;370;370	Q5VYS8-5;Q5VYS8-2;Q5VYS8	.;.;TUT7_HUMAN	V	370;370;8	ENSP00000365128:L370V;ENSP00000365130:L370V;ENSP00000365115:L8V	ENSP00000365115:L8V	L	-	1	2	ZCCHC6	88145767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.299000	0.33424	0.426000	0.26116	0.482000	0.46254	TTA		0.313	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		14	52	0	0	0	1	0	14	52				
ZMYM3	9203	broad.mit.edu	37	X	70470017	70470017	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70470017C>T	ENST00000353904.2	-	6	1297	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	ZMYM3_ENST00000373998.1_Silent_p.Q370Q|ZMYM3_ENST00000373978.1_Missense_Mutation_p.R274K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Silent_p.Q372Q|ZMYM3_ENST00000373988.1_Silent_p.Q372Q|ZMYM3_ENST00000373984.3_Silent_p.Q372Q|ZMYM3_ENST00000373981.1_Silent_p.Q370Q|ZMYM3_ENST00000314425.5_Silent_p.Q370Q	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	370					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGAACCAGTCTGCGCCACAA	0.577																																						ENST00000373978.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(820-822)aGa>aAa		zinc finger, MYM-type 3							90.0	71.0	77.0					X																	70470017		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70470017C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1110G>A	X.37:g.70470017C>T						ZMYM3_ENST00000373984.3_Silent_p.Q372Q|ZMYM3_ENST00000353904.2_Silent_p.Q370Q|ZMYM3_ENST00000314425.5_Silent_p.Q370Q|ZMYM3_ENST00000373981.1_Silent_p.Q370Q|ZMYM3_ENST00000373998.1_Silent_p.Q370Q|ZMYM3_ENST00000373988.1_Silent_p.Q372Q|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Silent_p.Q372Q	p.R274K			Q14202	ZMYM3_HUMAN			5	898	-	Renal(35;0.156)		178					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.821G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.989157	0.53934	.	.	ENSG00000147130	ENST00000373978	.	.	.	4.43	2.66	0.31614	.	.	.	.	.	T	0.49712	0.1573	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22556	-1.0213	5	0.18710	T	0.47	-9.1533	8.2045	0.31446	0.0:0.7317:0.0:0.2683	.	.	.	.	K	274	.	ENSP00000363090:R274K	R	-	2	0	ZMYM3	70386742	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	2.086000	0.41643	0.350000	0.24002	0.468000	0.43344	AGA		0.577	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		19	19	0	0	0	1	0	19	19				
OR5D18	219438	broad.mit.edu	37	11	55587551	55587551	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55587551C>A	ENST00000333976.4	+	1	466	c.446C>A	c.(445-447)tCc>tAc	p.S149Y		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTTGTGGGATCCTATGCCTGG	0.473																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(445-447)tCc>tAc		olfactory receptor, family 5, subfamily D, member 18							195.0	183.0	187.0					11																	55587551		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587551C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.446C>A	11.37:g.55587551C>A	ENSP00000335025:p.Ser149Tyr						p.S149Y	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	466	+		all_epithelial(135;0.208)	149					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.446C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	9.161	1.018599	0.19355	.	.	ENSG00000186119	ENST00000333976	T	0.39056	1.1	4.66	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34802	N	0.003675	T	0.68320	0.2988	H	0.96301	3.8	0.09310	N	1	D	0.65815	0.995	D	0.66979	0.948	T	0.60449	-0.7261	10	0.66056	D	0.02	-8.2198	6.479	0.22053	0.1457:0.6925:0.0:0.1617	.	149	Q8NGL1	OR5DI_HUMAN	Y	149	ENSP00000335025:S149Y	ENSP00000335025:S149Y	S	+	2	0	OR5D18	55344127	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.436000	0.06922	0.163000	0.19507	0.567000	0.79289	TCC		0.473	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		58	113	1	0	7.10663e-31	1	1.01603e-30	58	113				
ZC3H8	84524	broad.mit.edu	37	2	112991726	112991726	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112991726T>G	ENST00000409573.2	-	5	721	c.592A>C	c.(592-594)Aaa>Caa	p.K198Q	ZC3H8_ENST00000476902.1_5'Flank|ZC3H8_ENST00000272570.5_Missense_Mutation_p.K198Q			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	198					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						AGAAAATATTTACAAATTTGT	0.308																																						ENST00000409573.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						c.(592-594)Aaa>Caa		zinc finger CCCH-type containing 8							74.0	66.0	68.0					2																	112991726		1823	4083	5906	SO:0001583	missense	84524				apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:112991726T>G	AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"""Zinc fingers, CCCH-type domain containing"""	30941	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 8"""	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.592A>C	2.37:g.112991726T>G	ENSP00000386488:p.Lys198Gln					ZC3H8_ENST00000272570.5_Missense_Mutation_p.K198Q	p.K198Q			Q8N5P1	ZC3H8_HUMAN			5	721	-			198					Q9BZ75	Missense_Mutation	SNP	ENST00000409573.2	37	c.592A>C	CCDS46392.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.503896	0.85176	.	.	ENSG00000144161	ENST00000409573;ENST00000272570	T;T	0.36157	1.27;1.27	5.04	5.04	0.67666	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	M	0.62266	1.93	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.57969	-0.7719	10	0.51188	T	0.08	-26.654	14.9045	0.70709	0.0:0.0:0.0:1.0	.	198	Q8N5P1	ZC3H8_HUMAN	Q	198	ENSP00000386488:K198Q;ENSP00000272570:K198Q	ENSP00000272570:K198Q	K	-	1	0	ZC3H8	112708197	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.107000	0.77047	2.240000	0.73641	0.533000	0.62120	AAA		0.308	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330521.3	NM_032494		6	6	0	0	0	1	0	6	6				
LRP1B	53353	broad.mit.edu	37	2	141128753	141128753	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141128753C>A	ENST00000389484.3	-	70	11841	c.10870G>T	c.(10870-10872)Gat>Tat	p.D3624Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3624	LDL-receptor class A 28. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		tttaCCTCATCTGAACCATCA	0.299										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10870-10872)Gat>Tat		low density lipoprotein receptor-related protein 1B							29.0	29.0	29.0					2																	141128753		2201	4291	6492	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128753C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10870G>T	2.37:g.141128753C>A	ENSP00000374135:p.Asp3624Tyr	TSP Lung(27;0.18)					p.D3624Y	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	70	11841	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3624			LDL-receptor class A 28.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10870G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572527	0.86542	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99232	-5.6	5.2	5.2	0.72013	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96802	0.9590	10	0.87932	D	0	.	19.0906	0.93225	0.0:1.0:0.0:0.0	.	3624	Q9NZR2	LRP1B_HUMAN	Y	3624;3562	ENSP00000374135:D3624Y	ENSP00000374135:D3624Y	D	-	1	0	LRP1B	140845223	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.412000	0.80091	2.578000	0.87016	0.591000	0.81541	GAT		0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	10	1	0	0.00448238	1	0.00465112	8	10				
ABCA13	154664	broad.mit.edu	37	7	48315509	48315509	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:48315509G>T	ENST00000435803.1	+	17	6270	c.6246G>T	c.(6244-6246)atG>atT	p.M2082I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2082					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTCTGAAATGAACAAAGGAA	0.368																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(6244-6246)atG>atT		ATP-binding cassette, sub-family A (ABC1), member 13							44.0	43.0	43.0					7																	48315509		1804	4056	5860	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315509G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6246G>T	7.37:g.48315509G>T	ENSP00000411096:p.Met2082Ile						p.M2082I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	6270	+			2082					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.6246G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224177	0.01530	.	.	ENSG00000179869	ENST00000435803	T	0.08984	3.03	4.65	-2.85	0.05734	.	0.626536	0.13997	N	0.348412	T	0.01730	0.0055	N	0.01188	-0.97	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	.	.	.	.	0.5895	0.00725	0.4172:0.2212:0.1642:0.1974	.	2082	Q86UQ4	ABCAD_HUMAN	I	2082	ENSP00000411096:M2082I	.	M	+	3	0	ABCA13	48286055	0.012000	0.17670	0.000000	0.03702	0.057000	0.15508	0.155000	0.16362	-0.346000	0.08312	0.484000	0.47621	ATG		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	37	1	0	0.0477658	1	0.0484551	6	37				
PCDH11X	27328	broad.mit.edu	37	X	91133602	91133602	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:91133602A>C	ENST00000373094.1	+	2	3208	c.2363A>C	c.(2362-2364)aAa>aCa	p.K788T	PCDH11X_ENST00000373088.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K788T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K788T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	788	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGGTGCGCAAAAGCACTGAA	0.463																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2362-2364)aAa>aCa		protocadherin 11 X-linked							201.0	162.0	175.0					X																	91133602		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133602A>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2363A>C	X.37:g.91133602A>C	ENSP00000362186:p.Lys788Thr					PCDH11X_ENST00000361655.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K788T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.K788T	p.K788T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3208	+			788			Cadherin 7.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2363A>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	1.216	-0.628193	0.03610	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.15	-1.97	0.07503	Protocadherin (1);Cadherin (1);	0.230127	0.45867	D	0.000330	T	0.26412	0.0645	L	0.38531	1.155	0.09310	N	0.999996	B;B;B;B;B;B;B;B	0.25169	0.057;0.049;0.097;0.097;0.097;0.119;0.02;0.02	B;B;B;B;B;B;B;B	0.28553	0.055;0.089;0.055;0.055;0.055;0.091;0.055;0.055	T	0.28038	-1.0056	10	0.87932	D	0	.	10.9678	0.47422	0.3912:0.0:0.6088:0.0	.	788;788;788;788;788;788;788;788	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	788	ENSP00000378746:K788T;ENSP00000362186:K788T;ENSP00000362189:K788T;ENSP00000355040:K788T;ENSP00000362180:K788T;ENSP00000423762:K788T;ENSP00000355105:K788T;ENSP00000384758:K788T;ENSP00000298274:K788T	ENSP00000298274:K788T	K	+	2	0	PCDH11X	91020258	1.000000	0.71417	0.000000	0.03702	0.005000	0.04900	2.225000	0.42954	-0.437000	0.07243	0.481000	0.45027	AAA		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		5	167	0	0	0	1	0	5	167				
CR2	1380	broad.mit.edu	37	1	207648459	207648459	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207648459T>C	ENST00000367058.3	+	13	2626	c.2437T>C	c.(2437-2439)Tat>Cat	p.Y813H	CR2_ENST00000367059.3_Missense_Mutation_p.Y813H|CR2_ENST00000367057.3_Missense_Mutation_p.Y872H|CR2_ENST00000458541.2_Missense_Mutation_p.Y786H	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	813	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGACATAGTGTATGTTGACTG	0.438																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2614-2616)Tat>Cat		complement component (3d/Epstein Barr virus) receptor 2							176.0	155.0	162.0					1																	207648459		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207648459T>C	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2437T>C	1.37:g.207648459T>C	ENSP00000356025:p.Tyr813His					CR2_ENST00000458541.2_Missense_Mutation_p.Y786H|CR2_ENST00000367058.3_Missense_Mutation_p.Y813H|CR2_ENST00000367059.3_Missense_Mutation_p.Y813H	p.Y872H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			14	2803	+			938			Sushi 14.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2614T>C	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.508968	0.00984	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.7	-9.39	0.00619	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.23846	0.0577	N	0.01482	-0.84	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.10450	0.005;0.002;0.004	T	0.22487	-1.0215	9	0.15499	T	0.54	.	6.3679	0.21465	0.1942:0.5639:0.0979:0.144	.	813;813;872	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	H	813;872;813;786	ENSP00000356025:Y813H;ENSP00000356024:Y872H;ENSP00000356026:Y813H;ENSP00000404222:Y786H	ENSP00000356024:Y872H	Y	+	1	0	CR2	205715082	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-4.185000	0.00278	-2.354000	0.00614	-0.274000	0.10170	TAT		0.438	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		40	53	0	0	0	1	0	40	53				
RTKN2	219790	broad.mit.edu	37	10	64022496	64022496	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64022496C>T	ENST00000373789.3	-	2	241	c.145G>A	c.(145-147)Gat>Aat	p.D49N	RTKN2_ENST00000395260.3_Missense_Mutation_p.D49N|RTKN2_ENST00000395265.1_Missense_Mutation_p.D49N	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	49					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.D49Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAAACTTGATCTTTCTGAGTG	0.363																																						ENST00000373789.3																			1	Substitution - Missense(1)	p.D49Y(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(145-147)Gat>Aat		rhotekin 2							140.0	120.0	127.0					10																	64022496		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:64022496C>T	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.145G>A	10.37:g.64022496C>T	ENSP00000362894:p.Asp49Asn					RTKN2_ENST00000395265.1_Missense_Mutation_p.D49N|RTKN2_ENST00000395260.3_Missense_Mutation_p.D49N	p.D49N	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			2	241	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		49					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.145G>A	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630683	0.87660	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.33216	1.45;1.42;1.55	5.52	5.52	0.82312	.	0.093551	0.64402	D	0.000001	T	0.44477	0.1295	M	0.63843	1.955	0.46981	D	0.999274	P;P	0.45902	0.868;0.792	P;B	0.49226	0.603;0.326	T	0.17289	-1.0374	10	0.39692	T	0.17	4.4114	19.3863	0.94557	0.0:1.0:0.0:0.0	.	49;49	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	N	49	ENSP00000378682:D49N;ENSP00000362894:D49N;ENSP00000378678:D49N	ENSP00000362894:D49N	D	-	1	0	RTKN2	63692502	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.151000	0.64875	2.739000	0.93911	0.655000	0.94253	GAT		0.363	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		12	34	0	0	0	1	0	12	34				
TFPI	7035	broad.mit.edu	37	2	188361697	188361697	+	Missense_Mutation	SNP	C	C	T	rs137865208		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188361697C>T	ENST00000233156.3	-	3	524	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.R77Q|TFPI_ENST00000409676.1_Missense_Mutation_p.R77Q|TFPI_ENST00000339091.4_Missense_Mutation_p.R77Q	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	77	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TTCGCACTGTCGAGTGAAAAT	0.378																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(229-231)cGa>cAa		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	82.0	84.0	83.0		230,230	-2.5	0.0	2	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TFPI	NM_001032281.2,NM_006287.4	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	77/252,77/305	188361697	1,13005	2203	4300	6503	SO:0001583	missense	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188361697C>T		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.230G>A	2.37:g.188361697C>T	ENSP00000233156:p.Arg77Gln					TFPI_ENST00000392365.1_Missense_Mutation_p.R77Q|TFPI_ENST00000409676.1_Missense_Mutation_p.R77Q|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.R77Q	p.R77Q	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		3	524	-			77			BPTI/Kunitz inhibitor 1.		O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.230G>A	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	C	7.764	0.705953	0.15172	0.0	1.16E-4	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091;ENST00000437725;ENST00000421427;ENST00000453013	T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.62	-2.49	0.06403	Proteinase inhibitor I2, Kunitz metazoa (5);	0.788229	0.11998	N	0.509124	T	0.22322	0.0538	N	0.04787	-0.16	0.09310	N	1	B;B	0.21147	0.052;0.046	B;B	0.16289	0.015;0.008	T	0.26503	-1.0101	10	0.10377	T	0.69	.	6.5701	0.22533	0.1463:0.4963:0.0:0.3574	.	77;77	P10646-2;P10646	.;TFPI1_HUMAN	Q	77	ENSP00000376172:R77Q;ENSP00000233156:R77Q;ENSP00000397248:R77Q;ENSP00000409177:R77Q;ENSP00000386344:R77Q;ENSP00000342306:R77Q;ENSP00000388159:R77Q;ENSP00000408170:R77Q;ENSP00000394185:R77Q	ENSP00000233156:R77Q	R	-	2	0	TFPI	188069942	0.001000	0.12720	0.001000	0.08648	0.441000	0.31987	-0.108000	0.10857	-0.426000	0.07360	-0.482000	0.04802	CGA		0.378	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		16	36	0	0	0	1	0	16	36				
OTUD4	54726	broad.mit.edu	37	4	146058848	146058848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:146058848C>A	ENST00000447906.2	-	21	3266	c.3079G>T	c.(3079-3081)Gaa>Taa	p.E1027*	OTUD4_ENST00000454497.2_Nonsense_Mutation_p.E962*|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1027					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTTCATTTTCATCTTCTGAA	0.408																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2884-2886)Gaa>Taa		OTU domain containing 4							158.0	163.0	161.0					4																	146058848		2203	4300	6503	SO:0001587	stop_gained	54726						protein binding	g.chr4:146058848C>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3079G>T	4.37:g.146058848C>A	ENSP00000395487:p.Glu1027*					OTUD4_ENST00000447906.2_Nonsense_Mutation_p.E1027*|OTUD4_ENST00000455611.2_Intron	p.E962*	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	3021	-	all_hematologic(180;0.151)		1026					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Nonsense_Mutation	SNP	ENST00000447906.2	37	c.2884G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.648764	0.98409	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.4379	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	962;1027	.	ENSP00000395487:E1027X	E	-	1	0	OTUD4	146278298	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.296000	0.65698	2.941000	0.99782	0.655000	0.94253	GAA		0.408	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		55	112	1	0	1.0331e-37	1	1.4876e-37	55	112				
SH3RF2	153769	broad.mit.edu	37	5	145393376	145393376	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:145393376C>A	ENST00000511217.1	+	4	863	c.811C>A	c.(811-813)Ctg>Atg	p.L271M	SH3RF2_ENST00000359120.4_Missense_Mutation_p.L271M			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	271					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACAAAAAACCTGTCCCTGGT	0.537																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(811-813)Ctg>Atg		SH3 domain containing ring finger 2							85.0	75.0	79.0					5																	145393376		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393376C>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.811C>A	5.37:g.145393376C>A	ENSP00000424497:p.Leu271Met					SH3RF2_ENST00000359120.4_Missense_Mutation_p.L271M	p.L271M			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	863	+			271					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.811C>A	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	C	7.758	0.704690	0.15172	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.08008	3.14;3.14	5.32	2.02	0.26589	Src homology-3 domain (1);	0.568243	0.17205	N	0.182951	T	0.03651	0.0104	N	0.04508	-0.205	0.09310	N	1	B	0.25772	0.134	B	0.20577	0.03	T	0.43718	-0.9374	10	0.29301	T	0.29	-2.0558	9.2611	0.37612	0.3813:0.47:0.1488:0.0	.	271	Q8TEC5	SH3R2_HUMAN	M	271	ENSP00000352028:L271M;ENSP00000424497:L271M	ENSP00000352028:L271M	L	+	1	2	SH3RF2	145373569	0.008000	0.16893	0.706000	0.30403	0.789000	0.44602	0.195000	0.17155	0.707000	0.31934	0.591000	0.81541	CTG		0.537	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		27	70	1	0	2.44723e-14	1	3.18537e-14	27	70				
RYR1	6261	broad.mit.edu	37	19	38985162	38985162	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38985162G>A	ENST00000359596.3	+	39	6445	c.6445G>A	c.(6445-6447)Gtg>Atg	p.V2149M	RYR1_ENST00000355481.4_Missense_Mutation_p.V2149M|RYR1_ENST00000360985.3_Missense_Mutation_p.V2149M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2149	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCGTCCTCCGTGGAAGACAC	0.657																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(6445-6447)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						68.0	62.0	64.0					19																	38985162		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38985162G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6445G>A	19.37:g.38985162G>A	ENSP00000352608:p.Val2149Met					RYR1_ENST00000360985.3_Missense_Mutation_p.V2149M|RYR1_ENST00000359596.3_Missense_Mutation_p.V2149M	p.V2149M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		39	6576	+	all_cancers(60;7.91e-06)		2149			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6445G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640367	0.29157	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97114	-4.25;-4.25;-4.25	4.63	0.963	0.19649	.	0.301825	0.25514	U	0.030145	D	0.94225	0.8146	M	0.63428	1.95	0.38861	D	0.956483	B;B	0.30033	0.266;0.174	B;B	0.26517	0.07;0.032	D	0.89559	0.3805	10	0.51188	T	0.08	.	8.2214	0.31543	0.1089:0.1429:0.7482:0.0	.	2149;2149	P21817-2;P21817	.;RYR1_HUMAN	M	2149	ENSP00000352608:V2149M;ENSP00000347667:V2149M;ENSP00000354254:V2149M	ENSP00000347667:V2149M	V	+	1	0	RYR1	43677002	1.000000	0.71417	0.238000	0.24106	0.144000	0.21451	3.263000	0.51546	0.048000	0.15891	0.305000	0.20034	GTG		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			26	39	0	0	0	1	0	26	39				
KIAA0196	9897	broad.mit.edu	37	8	126056266	126056266	+	Missense_Mutation	SNP	A	A	G	rs372250277		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:126056266A>G	ENST00000318410.7	-	22	3087	c.2738T>C	c.(2737-2739)aTg>aCg	p.M913T	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.M765T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	913					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GACAGCATTCATGAGGGTTTT	0.413																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(2737-2739)aTg>aCg		KIAA0196							91.0	86.0	87.0					8																	126056266		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126056266A>G		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2738T>C	8.37:g.126056266A>G	ENSP00000318016:p.Met913Thr					KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.M765T	p.M913T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		22	3087	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		913					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.2738T>C	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.171|9.171	1.021053|1.021053	0.19433|0.19433	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.85088|.	-1.94;-1.94|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.143011|.	0.64402|.	D|.	0.000002|.	T|.	0.20981|.	0.0505|.	N|N	0.01168|0.01168	-0.975|-0.975	0.49213|0.49213	D|D	0.999761|0.999761	B;B|.	0.12013|.	0.0;0.005|.	B;B|.	0.16722|.	0.0;0.016|.	T|.	0.27773|.	-1.0064|.	10|.	0.13108|.	T|.	0.6|.	-33.8136|-33.8136	11.4034|11.4034	0.49883|0.49883	0.8651:0.0:0.0:0.1348|0.8651:0.0:0.0:0.1348	.|.	765;913|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	T|R	913;765|530	ENSP00000318016:M913T;ENSP00000429676:M765T|.	ENSP00000318016:M913T|.	M|X	-|-	2|1	0|0	KIAA0196|KIAA0196	126125448|126125448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.068000|5.068000	0.64364|0.64364	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	ATG|TGA		0.413	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		12	31	0	0	0	1	0	12	31				
KANSL1	284058	broad.mit.edu	37	17	44127980	44127980	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:44127980C>T	ENST00000262419.6	-	7	2409	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	KANSL1_ENST00000572904.1_Missense_Mutation_p.E647K|KANSL1_ENST00000393476.3_Missense_Mutation_p.E4K|KANSL1_ENST00000574590.1_Missense_Mutation_p.E647K|KANSL1_ENST00000432791.1_Missense_Mutation_p.E647K|KANSL1_ENST00000575318.1_Missense_Mutation_p.E647K	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	647					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TAGTGAATTTCGGGAGGCATG	0.502																																						ENST00000262419.6																			0											c.(1939-1941)Gaa>Aaa		KAT8 regulatory NSL complex subunit 1							102.0	78.0	86.0					17																	44127980		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44127980C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1939G>A	17.37:g.44127980C>T	ENSP00000262419:p.Glu647Lys					KANSL1_ENST00000432791.1_Missense_Mutation_p.E647K|KANSL1_ENST00000393476.3_Missense_Mutation_p.E4K|KANSL1_ENST00000575318.1_Missense_Mutation_p.E647K|KANSL1_ENST00000574590.1_Missense_Mutation_p.E647K|KANSL1_ENST00000572904.1_Missense_Mutation_p.E647K	p.E647K	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			7	2409	-			647					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.1939G>A	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243077	0.95272	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.27402	2.61;2.61;1.67	6.06	6.06	0.98353	.	0.252290	0.45606	D	0.000344	T	0.31389	0.0795	L	0.48642	1.525	0.43279	D	0.995244	P;P	0.52463	0.953;0.899	B;B	0.41764	0.182;0.366	T	0.03750	-1.1007	10	0.54805	T	0.06	-13.4669	16.1399	0.81515	0.0:1.0:0.0:0.0	.	647;647	C9JHY2;Q7Z3B3	.;K1267_HUMAN	K	647;647;4	ENSP00000262419:E647K;ENSP00000387393:E647K;ENSP00000377117:E4K	ENSP00000262419:E647K	E	-	1	0	KIAA1267	41483832	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	4.738000	0.62073	2.880000	0.98712	0.650000	0.86243	GAA		0.502	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		19	29	0	0	0	1	0	19	29				
PSTPIP1	9051	broad.mit.edu	37	15	77329411	77329411	+	Missense_Mutation	SNP	C	C	T	rs202205180	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:77329411C>T	ENST00000558012.1	+	15	1634	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	PSTPIP1_ENST00000267939.5_Missense_Mutation_p.A362V|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.A379V|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.A363V	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	382	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCTGTCCGCGGGAGACATC	0.627													c|||	2	0.000399361	0.0008	0.0	5008	,	,		19183	0.0		0.001	False		,,,				2504	0.0					ENST00000558012.1																			0				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(1144-1146)gCg>gTg		proline-serine-threonine phosphatase interacting protein 1							75.0	89.0	85.0					15																	77329411		2019	4173	6192	SO:0001583	missense	9051				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	g.chr15:77329411C>T	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.1145C>T	15.37:g.77329411C>T	ENSP00000452746:p.Ala382Val					PSTPIP1_ENST00000559295.1_Missense_Mutation_p.A363V|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.A362V|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.A379V	p.A382V	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN			15	1634	+			382			SH3.		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	ENST00000558012.1	37	c.1145C>T	CCDS45312.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	0.086	-1.175850	0.01646	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T	0.32023	1.47	4.48	3.56	0.40772	Src homology-3 domain (5);	0.762936	0.12813	N	0.437035	T	0.15132	0.0365	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.18461	0.028;0.006;0.02	B;B;B	0.15870	0.005;0.014;0.008	T	0.15492	-1.0435	10	0.52906	T	0.07	-26.738	7.2091	0.25923	0.1693:0.7379:0.0:0.0928	.	363;362;382	O43586-2;C9K004;O43586	.;.;PPIP1_HUMAN	V	382;362	ENSP00000267939:A362V	ENSP00000267939:A362V	A	+	2	0	PSTPIP1	75116466	0.000000	0.05858	0.145000	0.22337	0.012000	0.07955	0.246000	0.18160	1.094000	0.41399	0.586000	0.80456	GCG		0.627	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	NM_003978		19	42	0	0	0	1	0	19	42				
NR1D2	9975	broad.mit.edu	37	3	24018775	24018775	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:24018775A>G	ENST00000312521.4	+	8	1924	c.1605A>G	c.(1603-1605)gcA>gcG	p.A535A	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	535	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TCATTCGTGCACTAAGGACCT	0.388																																						ENST00000312521.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						c.(1603-1605)gcA>gcG		nuclear receptor subfamily 1, group D, member 2							73.0	76.0	75.0					3																	24018775		2203	4300	6503	SO:0001819	synonymous_variant	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24018775A>G	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1605A>G	3.37:g.24018775A>G						NR1D2_ENST00000492552.1_3'UTR	p.A535A	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN			8	1924	+			535					B2R8Q3|O00402|Q86XD4	Silent	SNP	ENST00000312521.4	37	c.1605A>G	CCDS33718.1																																																																																				0.388	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			8	17	0	0	0	1	0	8	17				
CRYBG3	131544	broad.mit.edu	37	3	97618005	97618005	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97618005C>A	ENST00000182096.4	+	11	2089	c.2025C>A	c.(2023-2025)ttC>ttA	p.F675L		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2623							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCAAAAGTTCTTCTGTGGAG	0.333																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2023-2025)ttC>ttA		beta-gamma crystallin domain containing 3							68.0	65.0	66.0					3																	97618005		1808	4073	5881	SO:0001583	missense	131544							g.chr3:97618005C>A			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2025C>A	3.37:g.97618005C>A	ENSP00000182096:p.Phe675Leu						p.F675L	NM_153605.3	NP_705833.3					11	2089	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.2025C>A		.	.	.	.	.	.	.	.	.	.	C	10.87	1.474075	0.26423	.	.	ENSG00000080200	ENST00000182096	T	0.74526	-0.85	5.84	4.97	0.65823	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.239629	0.29830	N	0.011097	T	0.61590	0.2359	L	0.29908	0.895	0.80722	D	1	P	0.40794	0.729	B	0.41764	0.366	T	0.56896	-0.7903	10	0.11485	T	0.65	.	10.1437	0.42751	0.0:0.8452:0.0:0.1548	.	675	Q68DQ2	CRBG3_HUMAN	L	675	ENSP00000182096:F675L	ENSP00000182096:F675L	F	+	3	2	CRYBG3	99100695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.852000	0.27764	1.475000	0.48197	0.573000	0.79308	TTC		0.333	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		20	28	1	0	1.33834e-09	1	1.61283e-09	20	28				
EEF1B2	1933	broad.mit.edu	37	2	207024682	207024682	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207024682G>A	ENST00000236957.5	+	2	100		c.e2-1		NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000392222.2_5'UTR|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_5'UTR	NM_021121.3	NP_066944.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CTGCTCCCCAGCTCTCGGATA	0.567																																						ENST00000236957.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.e2-1		eukaryotic translation elongation factor 1 beta 2							37.0	44.0	41.0					2																	207024682		2200	4300	6500	SO:0001630	splice_region_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207024682G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000236957.5:c.-21-1G>A	2.37:g.207024682G>A						EEF1B2_ENST00000392221.1_5'UTR|EEF1B2_ENST00000392222.2_5'UTR		NM_021121.3	NP_066944.1	P24534	EF1B_HUMAN			2	100	+								A8K795|Q6IBH9	Splice_Site	SNP	ENST00000236957.5	37		CCDS2367.1																																																																																				0.567	EEF1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256390.2	NM_001037663	Intron	47	86	0	0	0	1	0	47	86				
MOK	5891	broad.mit.edu	37	14	102729915	102729915	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:102729915A>C	ENST00000361847.2	-	4	482	c.251T>G	c.(250-252)cTt>cGt	p.L84R	MOK_ENST00000522874.1_Missense_Mutation_p.L84R|MOK_ENST00000524214.1_Missense_Mutation_p.L54R|MOK_ENST00000193029.6_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										CATGTCCATAAGTTCACATAT	0.303																																						ENST00000361847.2																			0											c.(250-252)cTt>cGt		MOK protein kinase							96.0	96.0	96.0					14																	102729915		2203	4298	6501	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102729915A>C	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.251T>G	14.37:g.102729915A>C	ENSP00000355304:p.Leu84Arg					MOK_ENST00000524214.1_Missense_Mutation_p.L54R|MOK_ENST00000522874.1_Missense_Mutation_p.L84R|MOK_ENST00000193029.6_5'UTR	p.L84R	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			4	482	-			84			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.251T>G	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324456	0.81580	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.68624	-0.34;-0.34;-0.34	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.076955	0.53938	D	0.000051	T	0.79581	0.4470	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81385	-0.0957	10	0.72032	D	0.01	-13.1522	14.3848	0.66938	1.0:0.0:0.0:0.0	.	54;84	E7ERR8;Q9UQ07	.;MOK_HUMAN	R	84;84;54	ENSP00000429469:L84R;ENSP00000355304:L84R;ENSP00000428942:L54R	ENSP00000355304:L84R	L	-	2	0	RAGE	101799668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.256000	0.78350	2.209000	0.71365	0.533000	0.62120	CTT		0.303	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			8	18	0	0	0	1	0	8	18				
LILRA5	353514	broad.mit.edu	37	19	54823808	54823808	+	Splice_Site	SNP	G	G	A	rs201892026		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54823808G>A	ENST00000301219.3	-	2	206	c.87C>T	c.(85-87)ctC>ctT	p.L29L	LILRA5_ENST00000346508.3_Splice_Site_p.L29L|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Splice_Site_p.L29L|LILRA5_ENST00000432233.3_Splice_Site_p.L29L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	29					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L29L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAATCTCACCGAGGCAGAGCA	0.602																																						ENST00000301219.3																			1	Substitution - coding silent(1)	p.L29L(1)	urinary_tract(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.e2+1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							53.0	44.0	47.0					19																	54823808		2203	4300	6503	SO:0001630	splice_region_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823808G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.88+1C>T	19.37:g.54823808G>A						AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Splice_Site_p.L29_splice|LILRA5_ENST00000432233.3_Splice_Site_p.L29_splice|LILRA5_ENST00000346508.3_Splice_Site_p.L29_splice	p.L29_splice	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	2	206	-	Ovarian(34;0.19)		29					A6NHI3	Splice_Site	SNP	ENST00000301219.3	37	c.88_splice	CCDS12888.1																																																																																				0.602	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985	Silent	14	49	0	0	0	1	0	14	49				
ATP10A	57194	broad.mit.edu	37	15	25925385	25925385	+	Missense_Mutation	SNP	G	G	A	rs146387652		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25925385G>A	ENST00000356865.6	-	20	3860	c.3749C>T	c.(3748-3750)gCg>gTg	p.A1250V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1250					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A1250V(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGCACAAGACGCATTGTAAAT	0.493																																						ENST00000356865.6																			1	Substitution - Missense(1)	p.A1250V(1)	endometrium(1)	NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3748-3750)gCg>gTg		ATPase, class V, type 10A		G	VAL/ALA	0,4406		0,0,2203	156.0	137.0	144.0		3749	3.2	0.0	15	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP10A	NM_024490.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1250/1500	25925385	1,13005	2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925385G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3749C>T	15.37:g.25925385G>A	ENSP00000349325:p.Ala1250Val						p.A1250V	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	20	3860	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1250					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3749C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823560	0.50739	0.0	1.16E-4	ENSG00000206190	ENST00000356865	D	0.87650	-2.28	5.07	3.15	0.36227	.	0.502540	0.22658	N	0.057231	T	0.81302	0.4794	M	0.68317	2.08	0.26000	N	0.982132	P	0.38922	0.651	B	0.25759	0.063	T	0.70454	-0.4867	10	0.37606	T	0.19	-0.7838	10.6597	0.45696	0.0723:0.1329:0.7948:0.0	.	1250	O60312	AT10A_HUMAN	V	1250	ENSP00000349325:A1250V	ENSP00000349325:A1250V	A	-	2	0	ATP10A	23476478	0.958000	0.32768	0.001000	0.08648	0.571000	0.35966	4.592000	0.61027	0.620000	0.30215	0.655000	0.94253	GCG		0.493	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		51	83	0	0	0	1	0	51	83				
KIZ-AS1	101929591	broad.mit.edu	37	20	21142620	21142620	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:21142620G>T	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AAGCATGAGAGATTTCAGTAC	0.473																																						ENST00000591761.1																			0																				77.0	74.0	75.0					20																	21142620		1925	4122	6047			0							g.chr20:21142620G>T																													20.37:g.21142620G>T						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.473	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			26	35	1	0	1.66031e-10	1	2.0393e-10	26	35				
MAP7	9053	broad.mit.edu	37	6	136742892	136742892	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136742892C>T	ENST00000354570.3	-	2	523	c.113G>A	c.(112-114)cGc>cAc	p.R38H	MAP7_ENST00000454590.1_Missense_Mutation_p.R60H|MAP7_ENST00000438100.2_Missense_Mutation_p.R60H|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.R23H	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	38					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGAGGCAGGGCGGCTGGAGGC	0.373																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(112-114)cGc>cAc		microtubule-associated protein 7							140.0	139.0	139.0					6																	136742892		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136742892C>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.113G>A	6.37:g.136742892C>T	ENSP00000346581:p.Arg38His					MAP7_ENST00000438100.2_Missense_Mutation_p.R60H|MAP7_ENST00000454590.1_Missense_Mutation_p.R60H|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.R23H	p.R38H	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	2	523	-	Colorectal(23;0.24)		38					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.113G>A	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216707	0.39201	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000345567	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.63	2.9	0.33743	.	0.466173	0.18543	N	0.138137	T	0.03011	0.0089	N	0.22421	0.69	0.58432	D	0.999999	B;B;B;B;B;B;B;B	0.24132	0.007;0.007;0.012;0.007;0.002;0.098;0.098;0.013	B;B;B;B;B;B;B;B	0.18871	0.003;0.003;0.008;0.003;0.002;0.023;0.023;0.003	T	0.30592	-0.9973	10	0.38643	T	0.18	-4.2447	6.8786	0.24160	0.0:0.7239:0.0:0.2761	.	60;60;23;60;60;38;38;38	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	H	38;60;23;60;38	ENSP00000346581:R38H;ENSP00000414712:R60H;ENSP00000445737:R23H;ENSP00000400790:R60H	ENSP00000344217:R38H	R	-	2	0	MAP7	136784585	0.369000	0.25039	0.630000	0.29268	0.600000	0.36913	0.459000	0.21908	0.750000	0.32877	0.555000	0.69702	CGC		0.373	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		21	40	0	0	0	1	0	21	40				
KCNN3	3782	broad.mit.edu	37	1	154841560	154841560	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:154841560C>A	ENST00000271915.4	-	1	1196	c.881G>T	c.(880-882)gGa>gTa	p.G294V	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	299					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	AACAACAATTCCAAACATCCC	0.433																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(880-882)gGa>gTa		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							158.0	151.0	153.0					1																	154841560		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154841560C>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.881G>T	1.37:g.154841560C>A	ENSP00000271915:p.Gly294Val						p.G294V	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	1196	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		299					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.881G>T	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719136	0.68844	.	.	ENSG00000143603	ENST00000271915	D	0.98958	-5.27	4.88	4.88	0.63580	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.46442	D	0.000295	D	0.99309	0.9758	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98985	1.0806	10	0.87932	D	0	-5.0461	15.5798	0.76425	0.0:1.0:0.0:0.0	.	300;299	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	V	294	ENSP00000271915:G294V	ENSP00000271915:G294V	G	-	2	0	KCNN3	153108184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.464000	0.80887	2.530000	0.85305	0.655000	0.94253	GGA		0.433	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		39	100	1	0	6.33695e-27	1	8.97322e-27	39	100				
EEF1E1	9521	broad.mit.edu	37	6	8090502	8090502	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:8090502A>G	ENST00000379715.5	-	3	357	c.301T>C	c.(301-303)Tat>Cat	p.Y101H	EEF1E1_ENST00000429723.2_Missense_Mutation_p.Y101H|EEF1E1_ENST00000507463.1_Missense_Mutation_p.Y101H|EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.Y101H	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	101	C-terminal.|GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TCTTCAAGATATGAATTAAGA	0.249																																						ENST00000379715.5																			0				endometrium(1)|prostate(1)	2						c.(301-303)Tat>Cat		eukaryotic translation elongation factor 1 epsilon 1							47.0	47.0	47.0					6																	8090502		2192	4284	6476	SO:0001583	missense	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8090502A>G	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.301T>C	6.37:g.8090502A>G	ENSP00000369038:p.Tyr101His					EEF1E1_ENST00000507463.1_Missense_Mutation_p.Y101H|EEF1E1_ENST00000429723.2_Missense_Mutation_p.Y101H|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.Y101H	p.Y101H	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN			3	357	-	Ovarian(93;0.0398)		101			GST C-terminal.		C9JLK5|Q5THS2	Missense_Mutation	SNP	ENST00000379715.5	37	c.301T>C	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942051	0.53079	.	.	ENSG00000124802	ENST00000429723;ENST00000379715;ENST00000507463	T;T	0.06294	3.32;3.32	4.82	4.82	0.62117	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.124912	0.56097	D	0.000032	T	0.04048	0.0113	L	0.33093	0.98	0.49130	D	0.999756	P;P	0.45957	0.869;0.745	P;P	0.50352	0.638;0.635	T	0.51442	-0.8705	9	.	.	.	-14.0031	9.3489	0.38126	0.9071:0.0:0.0929:0.0	.	101;101	C9JLK5;O43324	.;MCA3_HUMAN	H	101	ENSP00000414363:Y101H;ENSP00000369038:Y101H	.	Y	-	1	0	EEF1E1	8035501	1.000000	0.71417	0.971000	0.41717	0.956000	0.61745	5.211000	0.65219	1.787000	0.52448	0.379000	0.24179	TAT		0.249	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		12	14	0	0	0	1	0	12	14				
WRAP53	55135	broad.mit.edu	37	17	7606440	7606440	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7606440C>T	ENST00000316024.5	+	9	3746	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	WRAP53_ENST00000534050.1_Silent_p.G433G|WRAP53_ENST00000431639.2_Silent_p.G466G|WRAP53_ENST00000396463.2_Silent_p.G466G|WRAP53_ENST00000457584.2_Silent_p.G466G|EFNB3_ENST00000226091.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	466					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCACCAATGGCGTGAGGTCCT	0.592																																						ENST00000316024.5																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(1396-1398)ggC>ggT		WD repeat containing, antisense to TP53							49.0	47.0	48.0					17																	7606440		2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7606440C>T	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1398C>T	17.37:g.7606440C>T						WRAP53_ENST00000457584.2_Silent_p.G466G|WRAP53_ENST00000396463.2_Silent_p.G466G|WRAP53_ENST00000431639.2_Silent_p.G466G|WRAP53_ENST00000534050.1_Silent_p.G433G	p.G466G			Q9BUR4	WAP53_HUMAN			9	3746	+			466					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.1398C>T	CCDS11119.1																																																																																				0.592	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		14	48	0	0	0	1	0	14	48				
LRRIQ1	84125	broad.mit.edu	37	12	85449618	85449618	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85449618A>G	ENST00000393217.2	+	8	1108	c.1047A>G	c.(1045-1047)agA>agG	p.R349R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	349	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		aagaagagagaaaaaagcaaa	0.343																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1045-1047)agA>agG		leucine-rich repeats and IQ motif containing 1							17.0	18.0	17.0					12																	85449618		2186	4253	6439	SO:0001819	synonymous_variant	84125							g.chr12:85449618A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1047A>G	12.37:g.85449618A>G							p.R349R	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1108	+			349			Glu-rich.		Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.1047A>G	CCDS41816.1																																																																																				0.343	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		4	11	0	0	0	1	0	4	11				
NIPBL	25836	broad.mit.edu	37	5	36955610	36955610	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:36955610C>A	ENST00000282516.8	+	3	600	c.101C>A	c.(100-102)gCt>gAt	p.A34D	NIPBL_ENST00000448238.2_Missense_Mutation_p.A34D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	34					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCTTTACCTGCTACAACTACA	0.398																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(100-102)gCt>gAt		Nipped-B homolog (Drosophila)							135.0	127.0	129.0					5																	36955610		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36955610C>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.101C>A	5.37:g.36955610C>A	ENSP00000282516:p.Ala34Asp					NIPBL_ENST00000448238.2_Missense_Mutation_p.A34D	p.A34D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		3	600	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		34					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.101C>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151425	0.94645	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94758	-3.5;-3.51	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.96827	0.8964	M	0.64997	1.995	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	D	0.97139	0.9823	10	0.72032	D	0.01	.	19.2931	0.94110	0.0:1.0:0.0:0.0	.	34;34	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	D	34	ENSP00000282516:A34D;ENSP00000406266:A34D	ENSP00000282516:A34D	A	+	2	0	NIPBL	36991367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.567000	0.86603	0.585000	0.79938	GCT		0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		15	34	1	0	1.33834e-09	1	1.61283e-09	15	34				
DMXL1	1657	broad.mit.edu	37	5	118556647	118556647	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:118556647C>A	ENST00000311085.8	+	36	8165	c.8085C>A	c.(8083-8085)ttC>ttA	p.F2695L	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.F2716L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2695										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGAAGATTTCTTGGTTATAC	0.343																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(8083-8085)ttC>ttA		Dmx-like 1							88.0	87.0	87.0					5																	118556647		2202	4299	6501	SO:0001583	missense	1657							g.chr5:118556647C>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8085C>A	5.37:g.118556647C>A	ENSP00000309690:p.Phe2695Leu					DMXL1_ENST00000539542.1_Missense_Mutation_p.F2716L|DMXL1_ENST00000505312.1_3'UTR	p.F2695L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	36	8165	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2695						Missense_Mutation	SNP	ENST00000311085.8	37	c.8085C>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604181	0.66445	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09817	2.94;2.96	5.15	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	L	0.49350	1.555	0.53005	D	0.999969	D;B	0.76494	0.999;0.226	D;B	0.73380	0.98;0.057	T	0.00538	-1.1682	10	0.38643	T	0.18	-11.9768	8.6949	0.34289	0.0:0.7677:0.0:0.2323	.	2716;2695	F5H269;Q9Y485	.;DMXL1_HUMAN	L	2695;2716	ENSP00000309690:F2695L;ENSP00000439479:F2716L	ENSP00000309690:F2695L	F	+	3	2	DMXL1	118584546	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.437000	0.44828	0.586000	0.29626	0.563000	0.77884	TTC		0.343	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		16	27	1	0	1.15088e-07	1	1.32965e-07	16	27				
ZNF354B	117608	broad.mit.edu	37	5	178311162	178311162	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178311162G>T	ENST00000322434.3	+	5	1935	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	ZNF354B_ENST00000522714.1_3'UTR|RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACATCAAAGAATTCATACT	0.343																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1708-1710)aGa>aTa		zinc finger protein 354B							53.0	52.0	52.0					5																	178311162		2203	4299	6502	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178311162G>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1709G>T	5.37:g.178311162G>T	ENSP00000327143:p.Arg570Ile					ZNF354B_ENST00000522714.1_3'UTR	p.R570I	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1935	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	570					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.1709G>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801604	0.50315	.	.	ENSG00000178338	ENST00000322434	T	0.24908	1.83	3.68	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45013	0.1321	M	0.66939	2.045	0.39938	D	0.974379	D	0.76494	0.999	D	0.71414	0.973	T	0.45308	-0.9270	9	0.72032	D	0.01	-42.4723	10.5802	0.45250	0.0:0.1983:0.8016:0.0	.	570	Q96LW1	Z354B_HUMAN	I	570	ENSP00000327143:R570I	ENSP00000327143:R570I	R	+	2	0	ZNF354B	178243768	0.002000	0.14202	0.936000	0.37596	0.973000	0.67179	1.229000	0.32600	0.724000	0.32296	0.555000	0.69702	AGA		0.343	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		4	42	1	0	0.00024832	1	0.000265255	4	42				
SLC45A3	85414	broad.mit.edu	37	1	205632665	205632665	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:205632665C>T	ENST00000367145.3	-	3	549	c.254G>A	c.(253-255)cGc>cAc	p.R85H	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	85					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAGGGCCGGCGGCGGCCATA	0.647			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	ENST00000367145.3				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(253-255)cGc>cAc		solute carrier family 45, member 3																																				SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205632665C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.254G>A	1.37:g.205632665C>T	ENSP00000356113:p.Arg85His						p.R85H	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	549	-	Breast(84;0.07)		85					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.254G>A	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602025	0.66445	.	.	ENSG00000158715	ENST00000367145	T	0.69806	-0.43	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.054265	0.64402	D	0.000001	D	0.85344	0.5675	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88339	0.2973	10	0.87932	D	0	-11.8921	18.1316	0.89603	0.0:1.0:0.0:0.0	.	85	Q96JT2	S45A3_HUMAN	H	85	ENSP00000356113:R85H	ENSP00000356113:R85H	R	-	2	0	SLC45A3	203899288	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	7.575000	0.82447	2.676000	0.91093	0.655000	0.94253	CGC		0.647	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		12	35	0	0	0	1	0	12	35				
UBAP1	51271	broad.mit.edu	37	9	34250704	34250704	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34250704G>A	ENST00000297661.4	+	6	1550	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	UBAP1_ENST00000379186.4_Missense_Mutation_p.D378N|UBAP1_ENST00000545103.1_Missense_Mutation_p.D503N|UBAP1_ENST00000536252.1_Missense_Mutation_p.D439N|UBAP1_ENST00000543944.1_Missense_Mutation_p.D475N|UBAP1_ENST00000359544.2_Missense_Mutation_p.D439N|UBAP1_ENST00000540348.1_Missense_Mutation_p.D439N	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	439					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GAAGGGCTTCGACCCTCTTTT	0.468																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(1315-1317)Gac>Aac		ubiquitin associated protein 1							126.0	117.0	120.0					9																	34250704		2203	4300	6503	SO:0001583	missense	51271					cytoplasm		g.chr9:34250704G>A	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1315G>A	9.37:g.34250704G>A	ENSP00000297661:p.Asp439Asn					UBAP1_ENST00000543944.1_Missense_Mutation_p.D475N|UBAP1_ENST00000379186.4_Missense_Mutation_p.D378N|UBAP1_ENST00000545103.1_Missense_Mutation_p.D503N|UBAP1_ENST00000540348.1_Missense_Mutation_p.D439N|UBAP1_ENST00000297661.4_Missense_Mutation_p.D439N|UBAP1_ENST00000359544.2_Missense_Mutation_p.D439N	p.D439N	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		7	1713	+			439					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	ENST00000297661.4	37	c.1315G>A	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577433	0.86645	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.52983	0.81;0.8;0.83;0.83;0.83;0.64;0.83	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.64997	1.995	0.80722	D	1	D;P;D;D	0.89917	1.0;0.922;1.0;1.0	D;B;D;D	0.97110	0.998;0.32;1.0;0.998	T	0.64651	-0.6357	10	0.48119	T	0.1	-15.3926	20.8794	0.99867	0.0:0.0:1.0:0.0	.	503;475;503;439	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	N	503;475;439;439;439;378;439	ENSP00000441024:D503N;ENSP00000439806:D475N;ENSP00000440456:D439N;ENSP00000439976:D439N;ENSP00000297661:D439N;ENSP00000368484:D378N;ENSP00000352541:D439N	ENSP00000297661:D439N	D	+	1	0	UBAP1	34240704	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	9.162000	0.94745	2.941000	0.99782	0.655000	0.94253	GAC		0.468	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			21	47	0	0	0	1	0	21	47				
PNISR	25957	broad.mit.edu	37	6	99848627	99848627	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99848627G>A	ENST00000369239.5	-	12	2411	c.2207C>T	c.(2206-2208)tCt>tTt	p.S736F	PNISR_ENST00000438806.1_Missense_Mutation_p.S736F	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	736	Ser-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ATCCTGTCTAGAATCATGTCT	0.353																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2206-2208)tCt>tTt		PNN-interacting serine/arginine-rich protein							147.0	150.0	149.0					6																	99848627		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99848627G>A	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.2207C>T	6.37:g.99848627G>A	ENSP00000358242:p.Ser736Phe					PNISR_ENST00000438806.1_Missense_Mutation_p.S736F	p.S736F	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			12	2411	-			736			Ser-rich.		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.2207C>T	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284200	0.59867	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.5	5.5	0.81552	.	0.201646	0.52532	D	0.000079	T	0.55909	0.1950	L	0.29908	0.895	0.80722	D	1	D	0.58268	0.982	P	0.57548	0.823	T	0.60702	-0.7211	9	0.66056	D	0.02	.	19.392	0.94587	0.0:0.0:1.0:0.0	.	736	Q8TF01	PNISR_HUMAN	F	736	.	ENSP00000358242:S736F	S	-	2	0	PNISR	99955348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.777000	0.62361	2.585000	0.87301	0.549000	0.68633	TCT		0.353	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		29	35	0	0	0	1	0	29	35				
CARD11	84433	broad.mit.edu	37	7	2966401	2966401	+	Silent	SNP	G	G	A	rs138401482		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:2966401G>A	ENST00000396946.4	-	14	2182	c.1779C>T	c.(1777-1779)agC>agT	p.S593S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	593					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAAACCCGCCGCTGTCATTGT	0.582			Mis		DLBCL								G|||	1	0.000199681	0.0	0.0	5008	,	,		20495	0.001		0.0	False		,,,				2504	0.0					ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1777-1779)agC>agT		caspase recruitment domain family, member 11		G		1,4405	2.1+/-5.4	0,1,2202	84.0	65.0	72.0		1779	-2.2	0.4	7	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	CARD11	NM_032415.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		593/1155	2966401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2966401G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1779C>T	7.37:g.2966401G>A							p.S593S	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	14	2182	-		Ovarian(82;0.0115)	593					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.1779C>T	CCDS5336.2																																																																																				0.582	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		4	31	0	0	0	1	0	4	31				
ZC2HC1A	51101	broad.mit.edu	37	8	79598747	79598747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:79598747G>T	ENST00000263849.4	+	4	358	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	86							metal ion binding (GO:0046872)										GAAACATGAAGAATTCATTGC	0.363																																						ENST00000263849.4																			0											c.(256-258)Gaa>Taa		zinc finger, C2HC-type containing 1A							64.0	57.0	60.0					8																	79598747		2203	4300	6503	SO:0001587	stop_gained	51101							g.chr8:79598747G>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.256G>T	8.37:g.79598747G>T	ENSP00000263849:p.Glu86*					ZC2HC1A_ENST00000521176.1_3'UTR	p.E86*	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			4	358	+			86					Q9Y372	Nonsense_Mutation	SNP	ENST00000263849.4	37	c.256G>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	37	6.124194	0.97305	.	.	ENSG00000104427	ENST00000263849	.	.	.	5.35	5.35	0.76521	.	0.046777	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.0506	19.429	0.94756	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	.	E	+	1	0	FAM164A	79761302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.116000	0.94341	2.667000	0.90743	0.585000	0.79938	GAA		0.363	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		3	16	1	0	0.004672	1	0.00483628	3	16				
VCAN	1462	broad.mit.edu	37	5	82816211	82816211	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82816211A>G	ENST00000265077.3	+	7	2651	c.2086A>G	c.(2086-2088)Aca>Gca	p.T696A	VCAN_ENST00000342785.4_Missense_Mutation_p.T696A|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.T648A|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	696	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGAGATGAGAACAGATACTTA	0.338																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2086-2088)Aca>Gca		versican							53.0	55.0	54.0					5																	82816211		2189	4291	6480	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816211A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2086A>G	5.37:g.82816211A>G	ENSP00000265077:p.Thr696Ala					VCAN_ENST00000512590.2_Missense_Mutation_p.T648A|VCAN_ENST00000342785.4_Missense_Mutation_p.T696A|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	p.T696A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2651	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	696			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2086A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.277323	0.23307	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19806	2.12;2.12;2.12	5.96	4.77	0.60923	.	0.109676	0.40728	N	0.001033	T	0.28566	0.0707	M	0.62723	1.935	0.09310	N	1	D;D	0.58268	0.971;0.982	P;P	0.48815	0.467;0.591	T	0.11991	-1.0565	10	0.33940	T	0.23	.	11.2742	0.49157	0.8474:0.1526:0.0:0.0	.	696;696	P13611-3;P13611	.;CSPG2_HUMAN	A	696;696;648	ENSP00000265077:T696A;ENSP00000342768:T696A;ENSP00000425959:T648A	ENSP00000265077:T696A	T	+	1	0	VCAN	82851967	0.897000	0.30589	0.214000	0.23707	0.421000	0.31385	2.514000	0.45503	1.037000	0.40024	0.533000	0.62120	ACA		0.338	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		13	25	0	0	0	1	0	13	25				
KRT76	51350	broad.mit.edu	37	12	53167390	53167390	+	Missense_Mutation	SNP	C	C	A	rs148390412		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53167390C>A	ENST00000332411.2	-	3	905	c.852G>T	c.(850-852)gaG>gaT	p.E284D		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	284	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.E284E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAAACTCATTCTCTGCGGCAG	0.498																																						ENST00000332411.2																			1	Substitution - coding silent(1)	p.E284E(1)	skin(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(850-852)gaG>gaT		keratin 76							151.0	122.0	132.0					12																	53167390		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53167390C>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.852G>T	12.37:g.53167390C>A	ENSP00000330101:p.Glu284Asp						p.E284D	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			3	905	-			284			Coil 1B.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.852G>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645462	0.67358	.	.	ENSG00000185069	ENST00000332411	D	0.94330	-3.4	4.48	2.64	0.31445	Filament (1);	0.000000	0.44688	D	0.000432	D	0.96222	0.8768	M	0.86420	2.815	0.42457	D	0.992779	D	0.89917	1.0	D	0.97110	1.0	D	0.95215	0.8329	10	0.87932	D	0	.	8.3558	0.32329	0.0:0.7522:0.0:0.2478	.	284	Q01546	K22O_HUMAN	D	284	ENSP00000330101:E284D	ENSP00000330101:E284D	E	-	3	2	KRT76	51453657	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	1.204000	0.32296	0.593000	0.29745	0.557000	0.71058	GAG		0.498	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		25	42	1	0	5.45024e-15	1	7.15042e-15	25	42				
DCLK2	166614	broad.mit.edu	37	4	151023816	151023816	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151023816G>A	ENST00000296550.7	+	2	1362	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	DCLK2_ENST00000302176.8_Missense_Mutation_p.R203Q|DCLK2_ENST00000506325.1_Missense_Mutation_p.R203Q	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	203	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTGTGATTCGAAGTGGAGTG	0.438																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(607-609)cGa>cAa		doublecortin-like kinase 2							75.0	77.0	76.0					4																	151023816		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151023816G>A	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.608G>A	4.37:g.151023816G>A	ENSP00000296550:p.Arg203Gln					DCLK2_ENST00000506325.1_Missense_Mutation_p.R203Q|DCLK2_ENST00000302176.8_Missense_Mutation_p.R203Q	p.R203Q	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			2	1362	+	all_hematologic(180;0.151)		203			Doublecortin 2.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.608G>A	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001572	0.93227	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	D;D;D	0.94687	-3.49;-3.49;-3.49	5.49	4.64	0.57946	Doublecortin domain (4);	0.000000	0.85682	D	0.000000	D	0.96892	0.8985	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.973;0.999;0.914	D	0.97166	0.9841	10	0.87932	D	0	.	14.6743	0.68967	0.0711:0.0:0.9289:0.0	.	203;203;203	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	Q	203	ENSP00000296550:R203Q;ENSP00000427235:R203Q;ENSP00000303887:R203Q	ENSP00000296550:R203Q	R	+	2	0	DCLK2	151243266	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.771000	0.98977	2.590000	0.87494	0.557000	0.71058	CGA		0.438	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		7	50	0	0	0	1	0	7	50				
ALDH1A1	216	broad.mit.edu	37	9	75545819	75545819	+	Silent	SNP	G	G	A	rs376026961		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:75545819G>A	ENST00000297785.3	-	3	342	c.288C>T	c.(286-288)atC>atT	p.I96I	ALDH1A1_ENST00000376939.1_Silent_p.I96I|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	96					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.I96I(1)|p.I110I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	GATCTCTTTCGATTAAATCAG	0.483																																						ENST00000297785.3																			2	Substitution - coding silent(2)	p.I96I(1)|p.I110I(1)	endometrium(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(286-288)atC>atT		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	G		0,4406		0,0,2203	102.0	99.0	100.0		288	-2.7	0.8	9		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ALDH1A1	NM_000689.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		96/502	75545819	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75545819G>A	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.288C>T	9.37:g.75545819G>A						ALDH1A1_ENST00000376939.1_Silent_p.I96I|ALDH1A1_ENST00000482210.1_5'UTR	p.I96I	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			3	342	-			96					O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	c.288C>T	CCDS6644.1																																																																																				0.483	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			36	69	0	0	0	1	0	36	69				
NFU1	27247	broad.mit.edu	37	2	69633160	69633160	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:69633160C>A	ENST00000410022.2	-	6	744	c.539G>T	c.(538-540)aGa>aTa	p.R180I	NFU1_ENST00000303698.3_Missense_Mutation_p.R156I|NFU1_ENST00000394305.1_Missense_Mutation_p.R39I|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000462320.1_Missense_Mutation_p.R39I	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	180	NifU.				iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						GTACCGTATTCTAGTATCTAA	0.323																																						ENST00000410022.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						c.(538-540)aGa>aTa		NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)							131.0	128.0	129.0					2																	69633160		2203	4300	6503	SO:0001583	missense	27247				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding	g.chr2:69633160C>A	AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"""HIRA interacting protein 5"", ""NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"""	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.539G>T	2.37:g.69633160C>A	ENSP00000387219:p.Arg180Ile					NFU1_ENST00000462320.1_Missense_Mutation_p.R39I|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000303698.3_Missense_Mutation_p.R156I|NFU1_ENST00000394305.1_Missense_Mutation_p.R39I	p.R180I	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN			6	744	-			180			NifU.		B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	37	c.539G>T	CCDS33217.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112544	0.94339	.	.	ENSG00000169599	ENST00000410022;ENST00000303698;ENST00000394305;ENST00000462320;ENST00000450796;ENST00000484177	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.07	5.07	0.68467	NIF system FeS cluster assembly, NifU, C-terminal (2);	0.094421	0.64402	D	0.000001	D	0.91112	0.7202	M	0.94101	3.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.987;0.991	D	0.93204	0.6594	10	0.87932	D	0	-16.8883	17.6738	0.88225	0.0:1.0:0.0:0.0	.	156;180	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	I	180;156;39;39;39;39	ENSP00000387219:R180I;ENSP00000306965:R156I;ENSP00000377842:R39I;ENSP00000418598:R39I;ENSP00000415102:R39I;ENSP00000417693:R39I	ENSP00000306965:R156I	R	-	2	0	NFU1	69486664	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.102000	0.77005	2.637000	0.89404	0.585000	0.79938	AGA		0.323	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		12	27	1	0	0.000978159	1	0.00102903	12	27				
CDHR2	54825	broad.mit.edu	37	5	176002378	176002378	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176002378A>G	ENST00000510636.1	+	9	993	c.719A>G	c.(718-720)cAg>cGg	p.Q240R	CDHR2_ENST00000261944.5_Missense_Mutation_p.Q240R|CDHR2_ENST00000506348.1_Missense_Mutation_p.Q240R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTTGACCCCCAGTTTGTCAGG	0.617																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(718-720)cAg>cGg		cadherin-related family member 2							89.0	83.0	85.0					5																	176002378		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176002378A>G	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.719A>G	5.37:g.176002378A>G	ENSP00000424565:p.Gln240Arg					CDHR2_ENST00000506348.1_Missense_Mutation_p.Q240R|CDHR2_ENST00000261944.5_Missense_Mutation_p.Q240R	p.Q240R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			9	993	+			240			Cadherin 2.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.719A>G	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	A	8.632	0.893852	0.17613	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60424	0.19;0.19;0.19	4.32	3.11	0.35812	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.38825	0.1055	L	0.27975	0.815	0.29646	N	0.844337	B	0.10296	0.003	B	0.09377	0.004	T	0.29792	-1.0000	9	0.15066	T	0.55	-10.2757	7.1444	0.25575	0.8111:0.0:0.1889:0.0	.	240	Q9BYE9	CDHR2_HUMAN	R	240	ENSP00000424565:Q240R;ENSP00000261944:Q240R;ENSP00000421078:Q240R	ENSP00000261944:Q240R	Q	+	2	0	CDHR2	175934984	0.996000	0.38824	1.000000	0.80357	0.977000	0.68977	1.827000	0.39102	0.660000	0.30964	0.391000	0.25812	CAG		0.617	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		26	46	0	0	0	1	0	26	46				
HS3ST3A1	9955	broad.mit.edu	37	17	13504372	13504372	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:13504372G>T	ENST00000284110.1	-	1	872	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	25					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCATCAGCAAGAACTTCCGGA	0.697																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(73-75)ttC>ttA		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							43.0	39.0	40.0					17																	13504372		2197	4299	6496	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13504372G>T	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.75C>A	17.37:g.13504372G>T	ENSP00000284110:p.Phe25Leu						p.F25L	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	1	872	-		all_lung(20;0.114)	25					A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.75C>A	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579475	0.28180	.	.	ENSG00000153976	ENST00000284110	T	0.42900	0.96	2.79	1.78	0.24846	.	12.437600	0.01362	N	0.012282	T	0.26593	0.0650	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50808	-0.8784	10	0.02654	T	1	.	2.7165	0.05189	0.3296:0.2541:0.4162:0.0	.	25	Q9Y663	HS3SA_HUMAN	L	25	ENSP00000284110:F25L	ENSP00000284110:F25L	F	-	3	2	HS3ST3A1	13445097	0.008000	0.16893	0.985000	0.45067	0.981000	0.71138	0.631000	0.24568	0.656000	0.30886	0.563000	0.77884	TTC		0.697	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		4	12	1	0	0.150653	1	0.151842	4	12				
FAM47A	158724	broad.mit.edu	37	X	34148674	34148674	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:34148674C>A	ENST00000346193.3	-	1	1773	c.1722G>T	c.(1720-1722)aaG>aaT	p.K574N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	574										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATGCTCGAATCTTGGGAGGCT	0.512																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1720-1722)aaG>aaT		family with sequence similarity 47, member A							80.0	76.0	77.0					X																	34148674		2155	4254	6409	SO:0001583	missense	158724							g.chrX:34148674C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1722G>T	X.37:g.34148674C>A	ENSP00000345029:p.Lys574Asn						p.K574N	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1773	-			574					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1722G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	8.477	0.858811	0.17178	.	.	ENSG00000185448	ENST00000346193	T	0.15718	2.4	0.938	-1.17	0.09648	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.15484	0.013	T	0.32455	-0.9906	9	0.42905	T	0.14	.	1.6925	0.02855	0.3281:0.4122:0.0:0.2597	.	574	Q5JRC9	FA47A_HUMAN	N	574	ENSP00000345029:K574N	ENSP00000345029:K574N	K	-	3	2	FAM47A	34058595	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.556000	0.02168	-0.618000	0.05656	-0.907000	0.02831	AAG		0.512	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		17	67	1	0	4.7546e-09	1	5.67505e-09	17	67				
LRRK2	120892	broad.mit.edu	37	12	40749930	40749930	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40749930T>G	ENST00000298910.7	+	46	6842	c.6784T>G	c.(6784-6786)Ttt>Gtt	p.F2262V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2262					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACAAAAAAATTTTCTTTTGGT	0.289																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(6784-6786)Ttt>Gtt		leucine-rich repeat kinase 2							49.0	48.0	48.0					12																	40749930		2202	4295	6497	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40749930T>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6784T>G	12.37:g.40749930T>G	ENSP00000298910:p.Phe2262Val						p.F2262V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			46	6842	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2262					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6784T>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233042	0.39498	.	.	ENSG00000188906	ENST00000298910	T	0.35236	1.32	5.96	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050214	0.85682	D	0.000000	T	0.32675	0.0837	L	0.57536	1.79	0.37259	D	0.906884	B;B	0.28258	0.205;0.205	B;B	0.21546	0.035;0.035	T	0.20571	-1.0271	10	0.23302	T	0.38	.	11.9938	0.53189	0.0:0.0672:0.0:0.9328	.	2262;2262	Q17RV3;Q5S007	.;LRRK2_HUMAN	V	2262	ENSP00000298910:F2262V	ENSP00000298910:F2262V	F	+	1	0	LRRK2	39036197	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	6.477000	0.73591	1.084000	0.41184	0.533000	0.62120	TTT		0.289	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	10	0	0	0	1	0	4	10				
ABCA8	10351	broad.mit.edu	37	17	66887695	66887695	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66887695A>G	ENST00000269080.2	-	22	3096	c.2959T>C	c.(2959-2961)Ttc>Ctc	p.F987L	ABCA8_ENST00000586539.1_Missense_Mutation_p.F1027L|ABCA8_ENST00000430352.2_Missense_Mutation_p.F1027L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	987					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCAGCCAGAACATGATATAT	0.363																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2959-2961)Ttc>Ctc		ATP-binding cassette, sub-family A (ABC1), member 8							119.0	103.0	108.0					17																	66887695		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66887695A>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2959T>C	17.37:g.66887695A>G	ENSP00000269080:p.Phe987Leu					ABCA8_ENST00000430352.2_Missense_Mutation_p.F1027L|ABCA8_ENST00000586539.1_Missense_Mutation_p.F1027L	p.F987L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			22	3096	-	Breast(10;4.56e-13)		987					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2959T>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.263174	0.23051	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86297	-2.1;-2.1	4.44	1.98	0.26296	.	0.360572	0.23736	N	0.045064	T	0.77942	0.4206	L	0.41027	1.25	0.09310	N	1	B;B;B;B	0.22541	0.058;0.071;0.003;0.02	B;B;B;B	0.29785	0.065;0.107;0.008;0.044	T	0.60495	-0.7252	10	0.23302	T	0.38	.	3.2062	0.06666	0.5285:0.0:0.1018:0.3697	.	966;1027;1027;987	F5H6Z4;A1L3U3;C9JQE6;O94911	.;.;.;ABCA8_HUMAN	L	987;1027;966	ENSP00000269080:F987L;ENSP00000402814:F1027L	ENSP00000269080:F987L	F	-	1	0	ABCA8	64399290	0.000000	0.05858	0.098000	0.21074	0.020000	0.10135	0.224000	0.17738	0.810000	0.34279	0.528000	0.53228	TTC		0.363	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		4	13	0	0	0	1	0	4	13				
SOCS5	9655	broad.mit.edu	37	2	46986192	46986192	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46986192C>T	ENST00000306503.5	+	2	695	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	SOCS5_ENST00000394861.2_Missense_Mutation_p.R175C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	175					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGTAGGAAGTCGCTCTCTAAG	0.458																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(523-525)Cgc>Tgc		suppressor of cytokine signaling 5							68.0	66.0	66.0					2																	46986192		2200	4293	6493	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986192C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.523C>T	2.37:g.46986192C>T	ENSP00000305133:p.Arg175Cys					SOCS5_ENST00000394861.2_Missense_Mutation_p.R175C	p.R175C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	695	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	175					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.523C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449808	0.63290	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.65916	-0.18;-0.18	5.31	5.31	0.75309	.	0.222819	0.45126	D	0.000382	T	0.72269	0.3439	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74688	-0.3581	10	0.87932	D	0	-18.3767	18.7613	0.91853	0.0:1.0:0.0:0.0	.	175	O75159	SOCS5_HUMAN	C	175	ENSP00000305133:R175C;ENSP00000378330:R175C	ENSP00000305133:R175C	R	+	1	0	SOCS5	46839696	1.000000	0.71417	0.991000	0.47740	0.629000	0.37895	7.619000	0.83057	2.770000	0.95276	0.655000	0.94253	CGC		0.458	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			22	56	0	0	0	1	0	22	56				
GABRG2	2566	broad.mit.edu	37	5	161495013	161495013	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:161495013C>T	ENST00000361925.4	+	1	228	c.8C>T	c.(7-9)tCg>tTg	p.S3L	GABRG2_ENST00000356592.3_Missense_Mutation_p.S3L|GABRG2_ENST00000414552.2_Missense_Mutation_p.S3L|GABRG2_ENST00000393933.4_5'Flank			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	3					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGATGAGTTCGCCAAATATA	0.453																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(7-9)tCg>tTg		gamma-aminobutyric acid (GABA) A receptor, gamma 2							72.0	69.0	70.0					5																	161495013		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161495013C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.8C>T	5.37:g.161495013C>T	ENSP00000354651:p.Ser3Leu					GABRG2_ENST00000414552.2_Missense_Mutation_p.S3L|GABRG2_ENST00000361925.4_Missense_Mutation_p.S3L	p.S3L	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	1	468	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	3					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.8C>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465484	0.43839	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	T;T;T	0.80566	-1.39;-0.86;-1.38	5.08	4.21	0.49690	.	0.671673	0.13812	N	0.361051	T	0.69450	0.3112	L	0.29908	0.895	0.80722	D	1	B;B;B	0.27765	0.003;0.118;0.188	B;B;B	0.21360	0.006;0.015;0.034	T	0.63216	-0.6687	10	0.34782	T	0.22	.	11.353	0.49598	0.0:0.9112:0.0:0.0888	.	3;3;3	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	L	3	ENSP00000349000:S3L;ENSP00000410732:S3L;ENSP00000354651:S3L	ENSP00000349000:S3L	S	+	2	0	GABRG2	161427591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.105000	0.31086	1.147000	0.42369	0.491000	0.48974	TCG		0.453	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			16	35	0	0	0	1	0	16	35				
PNISR	25957	broad.mit.edu	37	6	99849197	99849197	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99849197G>T	ENST00000369239.5	-	12	1841	c.1637C>A	c.(1636-1638)tCt>tAt	p.S546Y	PNISR_ENST00000438806.1_Missense_Mutation_p.S546Y	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	546	Ser-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGACCGAGAAGAAGTACGACT	0.423																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1636-1638)tCt>tAt		PNN-interacting serine/arginine-rich protein							120.0	110.0	113.0					6																	99849197		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99849197G>T	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1637C>A	6.37:g.99849197G>T	ENSP00000358242:p.Ser546Tyr					PNISR_ENST00000438806.1_Missense_Mutation_p.S546Y	p.S546Y	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			12	1841	-			546			Ser-rich.		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.1637C>A	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443288	0.63067	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	L	0.34521	1.04	0.80722	D	1	D	0.58268	0.982	P	0.57548	0.823	T	0.54827	-0.8235	9	0.44086	T	0.13	.	19.4149	0.94690	0.0:0.0:1.0:0.0	.	546	Q8TF01	PNISR_HUMAN	Y	546	.	ENSP00000358242:S546Y	S	-	2	0	PNISR	99955918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.612000	0.90909	2.669000	0.90835	0.579000	0.79373	TCT		0.423	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		14	41	1	0	0.000151284	1	0.00016287	14	41				
OR5L1	219437	broad.mit.edu	37	11	55579501	55579501	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55579501C>A	ENST00000333973.2	+	1	648	c.559C>A	c.(559-561)Ctt>Att	p.L187I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGTCTTAAGTCTTGCTTGCTC	0.433																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(559-561)Ctt>Att		olfactory receptor, family 5, subfamily L, member 1							250.0	222.0	231.0					11																	55579501		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579501C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.559C>A	11.37:g.55579501C>A	ENSP00000335529:p.Leu187Ile						p.L187I	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	648	+		all_epithelial(135;0.208)	187					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.559C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.974685	0.74360	.	.	ENSG00000186117	ENST00000333973	T	0.00379	7.65	4.12	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000315	T	0.00608	0.0020	L	0.51853	1.615	0.19945	N	0.999945	D	0.89917	1.0	D	0.80764	0.994	T	0.51593	-0.8686	10	0.52906	T	0.07	-24.2194	10.759	0.46253	0.3424:0.6576:0.0:0.0	.	187	Q8NGL2	OR5L1_HUMAN	I	187	ENSP00000335529:L187I	ENSP00000335529:L187I	L	+	1	0	OR5L1	55336077	0.087000	0.21565	0.004000	0.12327	0.814000	0.46013	0.573000	0.23699	0.699000	0.31761	0.428000	0.28381	CTT		0.433	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		5	183	1	0	0.014758	1	0.015099	5	183				
ARHGAP21	57584	broad.mit.edu	37	10	24910202	24910202	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:24910202G>A	ENST00000396432.2	-	9	1108	c.622C>T	c.(622-624)Cca>Tca	p.P208S	ARHGAP21_ENST00000320481.6_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	207					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGGCAGATGGCAGCCAGGGA	0.502																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(622-624)Cca>Tca		Rho GTPase activating protein 21							43.0	42.0	42.0					10																	24910202		2203	4299	6502	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24910202G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.622C>T	10.37:g.24910202G>A	ENSP00000379709:p.Pro208Ser					ARHGAP21_ENST00000320481.6_5'UTR	p.P208S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1108	-			207					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.622C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	5.631	0.301112	0.10678	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T	0.43294	2.98;0.95;1.02	5.35	0.125	0.14718	.	0.414752	0.28834	N	0.013990	T	0.16685	0.0401	N	0.16478	0.41	0.25813	N	0.984374	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11012	-1.0605	10	0.09590	T	0.72	.	1.0423	0.01562	0.1635:0.1944:0.2699:0.3722	.	198;207	F8W9U9;Q5T5U3	.;RHG21_HUMAN	S	208;197;198;208;43	ENSP00000379709:P208S;ENSP00000365592:P198S;ENSP00000405018:P208S	ENSP00000365592:P198S	P	-	1	0	ARHGAP21	24950208	0.993000	0.37304	0.046000	0.18839	0.902000	0.53008	1.085000	0.30840	0.076000	0.16826	-0.145000	0.13849	CCA		0.502	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		6	20	0	0	0	1	0	6	20				
PARP8	79668	broad.mit.edu	37	5	50090965	50090965	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:50090965C>T	ENST00000281631.5	+	12	1300	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	PARP8_ENST00000503750.2_Missense_Mutation_p.S381L|PARP8_ENST00000505697.2_Missense_Mutation_p.S381L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S381L|PARP8_ENST00000514342.2_Missense_Mutation_p.S134L|PARP8_ENST00000505554.1_Missense_Mutation_p.S360L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	381						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTCTAAAGTCGCATAGACTA	0.458																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1141-1143)tCg>tTg		poly (ADP-ribose) polymerase family, member 8							114.0	110.0	112.0					5																	50090965		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50090965C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1142C>T	5.37:g.50090965C>T	ENSP00000281631:p.Ser381Leu					PARP8_ENST00000505554.1_Missense_Mutation_p.S360L|PARP8_ENST00000503750.2_Missense_Mutation_p.S381L|PARP8_ENST00000514342.2_Missense_Mutation_p.S134L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.S381L|PARP8_ENST00000514067.2_Missense_Mutation_p.S381L	p.S381L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			12	1300	+		Lung NSC(810;0.0305)|Breast(144;0.222)	381					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1142C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109313	0.56398	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.3	5.3	0.74995	.	0.144611	0.45867	D	0.000336	T	0.35128	0.0921	N	0.19112	0.55	0.33716	D	0.616416	B;B;B	0.27700	0.059;0.041;0.186	B;B;B	0.14023	0.01;0.005;0.01	T	0.44019	-0.9355	8	.	.	.	-1.1764	14.2036	0.65721	0.1495:0.8505:0.0:0.0	.	273;381;381	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	L	381;381;134;381;381;360;134;134	.	.	S	+	2	0	PARP8	50126722	0.999000	0.42202	0.972000	0.41901	0.978000	0.69477	4.601000	0.61090	2.605000	0.88082	0.655000	0.94253	TCG		0.458	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		27	68	0	0	0	1	0	27	68				
OR5D13	390142	broad.mit.edu	37	11	55541030	55541030	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55541030C>T	ENST00000361760.1	+	1	117	c.117C>T	c.(115-117)gtC>gtT	p.V39V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCTACACAGTCACTGTAGTGG	0.403																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(115-117)gtC>gtT		olfactory receptor, family 5, subfamily D, member 13							152.0	143.0	146.0					11																	55541030		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541030C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.117C>T	11.37:g.55541030C>T							p.V39V	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	117	+		all_epithelial(135;0.196)	39					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.117C>T	CCDS31507.1																																																																																				0.403	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		38	66	0	0	0	1	0	38	66				
FAM208A	23272	broad.mit.edu	37	3	56680718	56680718	+	Nonsense_Mutation	SNP	C	C	A	rs373875530		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56680718C>A	ENST00000493960.2	-	14	2057	c.2047G>T	c.(2047-2049)Gaa>Taa	p.E683*	FAM208A_ENST00000355628.5_Nonsense_Mutation_p.E683*|FAM208A_ENST00000431842.2_Nonsense_Mutation_p.E287*	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	683							poly(A) RNA binding (GO:0044822)	p.E287*(1)|p.E683*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTAATCAATTCTTTGACTCTA	0.358																																						ENST00000431842.2																			2	Substitution - Nonsense(2)	p.E287*(1)|p.E683*(1)	large_intestine(2)	NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(859-861)Gaa>Taa		family with sequence similarity 208, member A		C	stop/GLU,stop/GLU	0,4406		0,0,2203	125.0	119.0	121.0		2047,859	5.3	1.0	3		121	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	FAM208A	NM_001112736.1,NM_015224.3	,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,	683/1513,287/1234	56680718	1,13005	2203	4300	6503	SO:0001587	stop_gained	23272							g.chr3:56680718C>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2047G>T	3.37:g.56680718C>A	ENSP00000417509:p.Glu683*					FAM208A_ENST00000355628.5_Nonsense_Mutation_p.E683*|FAM208A_ENST00000493960.2_Nonsense_Mutation_p.E683*	p.E287*	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			7	1783	-			683					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Nonsense_Mutation	SNP	ENST00000493960.2	37	c.859G>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	40	8.373000	0.98781	0.0	1.16E-4	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	.	.	.	5.26	5.26	0.73747	.	0.091263	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-17.331	19.0748	0.93156	0.0:1.0:0.0:0.0	.	.	.	.	X	287;683;683	.	ENSP00000347845:E683X	E	-	1	0	C3orf63	56655758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.164000	0.64954	2.733000	0.93635	0.655000	0.94253	GAA		0.358	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		11	24	1	0	1.08611e-07	1	1.25818e-07	11	24				
CEP97	79598	broad.mit.edu	37	3	101451471	101451471	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101451471A>C	ENST00000341893.3	+	6	1453	c.701A>C	c.(700-702)gAt>gCt	p.D234A	CEP97_ENST00000462076.1_3'UTR|CEP97_ENST00000327230.4_Missense_Mutation_p.D234A|CEP97_ENST00000494050.1_Missense_Mutation_p.D234A			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	234	LRRCT.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAGTCCTAGATGGATATGTG	0.403																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(700-702)gAt>gCt		centrosomal protein 97kDa							135.0	127.0	130.0					3																	101451471		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101451471A>C	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.701A>C	3.37:g.101451471A>C	ENSP00000342510:p.Asp234Ala					CEP97_ENST00000462076.1_3'UTR|CEP97_ENST00000494050.1_Missense_Mutation_p.D234A|CEP97_ENST00000327230.4_Missense_Mutation_p.D234A	p.D234A			Q8IW35	CEP97_HUMAN			6	1453	+			234			LRRCT.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.701A>C	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.949892	0.92660	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.62788	0.0;0.0;0.0	5.82	5.82	0.92795	.	0.045937	0.85682	D	0.000000	T	0.76751	0.4031	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78914	-0.2016	10	0.87932	D	0	-22.6361	16.19	0.81981	1.0:0.0:0.0:0.0	.	234;234;234	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	A	234	ENSP00000342510:D234A;ENSP00000325881:D234A;ENSP00000418185:D234A	ENSP00000325881:D234A	D	+	2	0	CEP97	102934161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.300000	0.96151	2.225000	0.72522	0.460000	0.39030	GAT		0.403	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		7	20	0	0	0	1	0	7	20				
TEX33	339669	broad.mit.edu	37	22	37397962	37397962	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:37397962C>T	ENST00000405091.2	-	4	656	c.405G>A	c.(403-405)acG>acA	p.T135T	TEX33_ENST00000381821.1_Silent_p.T135T|TEX33_ENST00000402860.3_Silent_p.T50T			O43247	TEX33_HUMAN	testis expressed 33	135																	CCTTCTGGTTCGTGGGCGTGC	0.622																																						ENST00000405091.2																			0											c.(403-405)acG>acA		testis expressed 33							128.0	80.0	96.0					22																	37397962		2203	4300	6503	SO:0001819	synonymous_variant	339669							g.chr22:37397962C>T	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.405G>A	22.37:g.37397962C>T						TEX33_ENST00000381821.1_Silent_p.T135T|TEX33_ENST00000402860.3_Silent_p.T50T	p.T135T			O43247	EAN57_HUMAN			4	656	-			135					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Silent	SNP	ENST00000405091.2	37	c.405G>A	CCDS54524.1																																																																																				0.622	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		13	12	0	0	0	1	0	13	12				
DCC	1630	broad.mit.edu	37	18	49867163	49867163	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:49867163G>T	ENST00000442544.2	+	1	622	c.6G>T	c.(4-6)gaG>gaT	p.E2D	RP11-25O3.1_ENST00000582700.1_lincRNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	2					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAATATGGAGAATAGTCTTA	0.542																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(4-6)gaG>gaT		deleted in colorectal carcinoma							253.0	205.0	222.0					18																	49867163		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:49867163G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.6G>T	18.37:g.49867163G>T	ENSP00000389140:p.Glu2Asp						p.E2D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	1	622	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	2						Missense_Mutation	SNP	ENST00000442544.2	37	c.6G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720884	0.68959	.	.	ENSG00000187323	ENST00000442544	T	0.51574	0.7	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000017	T	0.49541	0.1563	N	0.08118	0	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.60068	-0.7335	10	0.87932	D	0	.	18.6711	0.91512	0.0:0.0:1.0:0.0	.	2	P43146	DCC_HUMAN	D	2	ENSP00000389140:E2D	ENSP00000389140:E2D	E	+	3	2	DCC	48121161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.899000	0.69846	2.709000	0.92574	0.561000	0.74099	GAG		0.542	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		37	91	1	0	5.71845e-15	1	7.50055e-15	37	91				
OR4K17	390436	broad.mit.edu	37	14	20585842	20585842	+	Missense_Mutation	SNP	C	C	T	rs143610275	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20585842C>T	ENST00000315543.4	+	1	277	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CATGTATTTTCTCCTTGGTAA	0.393													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20376	0.0		0.0	False		,,,				2504	0.0					ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(277-279)Ctc>Ttc		olfactory receptor, family 4, subfamily K, member 17		C	PHE/LEU	10,4396		0,10,2193	233.0	239.0	237.0		277	2.0	1.0	14	dbSNP_134	237	0,8600		0,0,4300	yes	missense	OR4K17	NM_001004715.1	22	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	possibly-damaging	93/344	20585842	10,12996	2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585842C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.277C>T	14.37:g.20585842C>T	ENSP00000319197:p.Leu93Phe						p.L93F	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	277	+	all_cancers(95;0.00108)		65					Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.277C>T	CCDS32030.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	12.75	2.031300	0.35797	0.00227	0.0	ENSG00000176230	ENST00000315543	T	0.00848	5.62	2.86	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29602	U	0.011698	T	0.00998	0.0033	N	0.11427	0.14	0.26779	N	0.969631	P	0.50528	0.936	P	0.55965	0.788	T	0.55547	-0.8124	10	0.25106	T	0.35	.	5.0056	0.14286	0.0:0.5997:0.0:0.4003	.	65	Q8NGC6	OR4KH_HUMAN	F	93	ENSP00000319197:L93F	ENSP00000319197:L93F	L	+	1	0	OR4K17	19655682	0.076000	0.21285	0.995000	0.50966	0.542000	0.35054	0.348000	0.20031	0.510000	0.28216	0.404000	0.27445	CTC		0.393	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			7	210	0	0	0	1	0	7	210				
TRIM33	51592	broad.mit.edu	37	1	114964082	114964082	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114964082C>T	ENST00000358465.2	-	11	2120	c.2037G>A	c.(2035-2037)tcG>tcA	p.S679S	TRIM33_ENST00000369543.2_Silent_p.S679S|TRIM33_ENST00000450349.2_Silent_p.S287S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	679					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATCTGGCAGCGATGGAAGGT	0.403			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2035-2037)tcG>tcA		tripartite motif containing 33							193.0	184.0	187.0					1																	114964082		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114964082C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2037G>A	1.37:g.114964082C>T						TRIM33_ENST00000369543.2_Silent_p.S679S|TRIM33_ENST00000450349.2_Silent_p.S287S	p.S679S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2120	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	679					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.2037G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	8.426	0.847512	0.17034	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.87	-11.7	0.00046	.	.	.	.	.	T	0.27629	0.0679	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54357	-0.8306	4	.	.	.	-8.3394	8.357	0.32335	0.0633:0.1145:0.2409:0.5812	.	.	.	.	H	416	.	.	R	-	2	0	TRIM33	114765605	0.092000	0.21681	0.035000	0.18076	0.977000	0.68977	-0.598000	0.05706	-2.489000	0.00518	-0.812000	0.03155	CGC		0.403	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		21	64	0	0	0	1	0	21	64				
TRIP12	9320	broad.mit.edu	37	2	230642058	230642058	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230642058C>A	ENST00000283943.5	-	36	5455	c.5277G>T	c.(5275-5277)aaG>aaT	p.K1759N	TRIP12_ENST00000389045.3_Missense_Mutation_p.K1489N|TRIP12_ENST00000389044.4_Missense_Mutation_p.K1807N	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1759					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAAGTCTTTTCTTCTGTCTGA	0.378																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5275-5277)aaG>aaT		thyroid hormone receptor interactor 12							208.0	203.0	205.0					2																	230642058		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230642058C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5277G>T	2.37:g.230642058C>A	ENSP00000283943:p.Lys1759Asn					TRIP12_ENST00000389045.3_Missense_Mutation_p.K1489N|TRIP12_ENST00000389044.4_Missense_Mutation_p.K1807N	p.K1759N	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	36	5455	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1759					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5277G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243495	0.79912	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000418123	T;T;T;T	0.58652	0.32;0.32;0.32;0.66	5.92	5.04	0.67666	HECT (4);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.64404	1.975	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.991	D;D;D	0.78314	0.991;0.991;0.991	T	0.72547	-0.4260	10	0.72032	D	0.01	.	11.7693	0.51949	0.0:0.8666:0.0:0.1334	.	1489;1807;1759	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	N	1759;1489;1807;57	ENSP00000283943:K1759N;ENSP00000373697:K1489N;ENSP00000373696:K1807N;ENSP00000408330:K57N	ENSP00000283943:K1759N	K	-	3	2	TRIP12	230350302	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.884000	0.48562	2.809000	0.96659	0.467000	0.42956	AAG		0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		50	64	1	0	3.19319e-46	1	4.62646e-46	50	64				
ERCC6L2	375748	broad.mit.edu	37	9	98684594	98684594	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:98684594C>A	ENST00000288985.7	+	8	1645	c.1340C>A	c.(1339-1341)tCt>tAt	p.S447Y	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.S258Y	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	447					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CAGACCAATTCTCATGGTGAA	0.368																																						ENST00000288985.7																			0											c.(1339-1341)tCt>tAt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							78.0	71.0	73.0					9																	98684594		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98684594C>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1340C>A	9.37:g.98684594C>A	ENSP00000288985:p.Ser447Tyr					ERCC6L2_ENST00000437817.1_Missense_Mutation_p.S258Y|ERCC6L2_ENST00000466840.1_3'UTR	p.S447Y	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			8	1645	+			447					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.1340C>A	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783154	0.31593	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	D;D	0.93547	-3.24;-3.24	4.76	4.76	0.60689	SNF2-related (1);	0.918202	0.09052	N	0.855675	D	0.95752	0.8618	M	0.76838	2.35	0.53005	D	0.999965	P;D;D	0.62365	0.846;0.98;0.991	P;P;P	0.60682	0.568;0.873;0.878	D	0.93104	0.6511	10	0.62326	D	0.03	-1.1233	8.8607	0.35256	0.0:0.8348:0.0:0.1652	.	258;129;447	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	Y	129;447;258	ENSP00000288985:S447Y;ENSP00000416286:S258Y	ENSP00000288985:S447Y	S	+	2	0	C9orf102	97724415	0.953000	0.32496	0.813000	0.32504	0.168000	0.22595	2.667000	0.46808	2.459000	0.83118	0.585000	0.79938	TCT		0.368	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		13	12	1	0	4.3838e-07	1	4.998e-07	13	12				
ZBTB24	9841	broad.mit.edu	37	6	109788914	109788914	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109788914T>C	ENST00000230122.3	-	6	1479	c.1312A>G	c.(1312-1314)Atc>Gtc	p.I438V	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	438					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TTGCCACAGATTTCACAAGTA	0.333																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1312-1314)Atc>Gtc		zinc finger and BTB domain containing 24							92.0	90.0	91.0					6																	109788914		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109788914T>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1312A>G	6.37:g.109788914T>C	ENSP00000230122:p.Ile438Val						p.I438V	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	6	1479	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	438					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1312A>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.514660	0.44763	.	.	ENSG00000112365	ENST00000230122	T	0.11277	2.79	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	N	0.15975	0.35	0.36932	D	0.891958	D	0.71674	0.998	D	0.79108	0.992	T	0.37361	-0.9709	10	0.34782	T	0.22	-24.0836	15.9837	0.80133	0.0:0.0:0.0:1.0	.	438	O43167	ZBT24_HUMAN	V	438	ENSP00000230122:I438V	ENSP00000230122:I438V	I	-	1	0	ZBTB24	109895607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.185000	0.69588	0.528000	0.53228	ATC		0.333	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		7	36	0	0	0	1	0	7	36				
ATMIN	23300	broad.mit.edu	37	16	81077539	81077539	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81077539T>G	ENST00000299575.4	+	4	1460	c.1436T>G	c.(1435-1437)tTt>tGt	p.F479C	ATMIN_ENST00000564241.1_Missense_Mutation_p.F323C|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.F323C	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	479					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACTGATGCATTTATGGACACC	0.458																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(967-969)tTt>tGt		ATM interactor							97.0	92.0	94.0					16																	81077539		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077539T>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1436T>G	16.37:g.81077539T>G	ENSP00000299575:p.Phe479Cys					ATMIN_ENST00000299575.4_Missense_Mutation_p.F479C|ATMIN_ENST00000564241.1_Missense_Mutation_p.F323C|ATMIN_ENST00000539819.1_3'UTR	p.F323C			O43313	ATMIN_HUMAN			3	1931	+			479			Required for formation of RAD51 foci.		A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.968T>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.456580	0.26161	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.03004	4.08	5.87	5.87	0.94306	.	0.272209	0.43416	D	0.000575	T	0.11537	0.0281	M	0.73598	2.24	0.19775	N	0.999955	D	0.63880	0.993	P	0.53185	0.72	T	0.12760	-1.0535	10	0.87932	D	0	-13.1624	10.8542	0.46789	0.0:0.0701:0.0:0.9299	.	479	O43313	ATMIN_HUMAN	C	479;250	ENSP00000299575:F479C	ENSP00000299575:F479C	F	+	2	0	ATMIN	79635040	0.832000	0.29368	0.021000	0.16686	0.029000	0.11900	2.621000	0.46418	2.371000	0.80710	0.533000	0.62120	TTT		0.458	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		39	60	0	0	0	1	0	39	60				
ESRRG	2104	broad.mit.edu	37	1	216680421	216680421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:216680421G>A	ENST00000408911.3	-	7	1390	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	ESRRG_ENST00000366940.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.R351*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.R425*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000391890.3_Nonsense_Mutation_p.R397*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.R390*	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	413					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTGCCAGCTCGACGAGGGTCT	0.502																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1189-1191)Cga>Tga		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						120.0	105.0	110.0					1																	216680421		2203	4300	6503	SO:0001587	stop_gained	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216680421G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1237C>T	1.37:g.216680421G>A	ENSP00000386171:p.Arg413*					ESRRG_ENST00000408911.3_Nonsense_Mutation_p.R413*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.R351*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.R425*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.R390*	p.R397*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	9	1706	-			413					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Nonsense_Mutation	SNP	ENST00000408911.3	37	c.1189C>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	40	8.268692	0.98735	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748	.	.	.	5.4	3.45	0.39498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.985	0.86338	0.0:0.0:0.8538:0.1462	.	.	.	.	X	390;390;425;413;390;390;390;390;390;397;351;390;390;390	.	ENSP00000346386:R390X	R	-	1	2	ESRRG	214747044	0.999000	0.42202	0.219000	0.23793	0.985000	0.73830	2.700000	0.47085	0.568000	0.29311	0.561000	0.74099	CGA		0.502	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		18	34	0	0	0	1	0	18	34				
C3orf30	152405	broad.mit.edu	37	3	118865848	118865848	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118865848C>A	ENST00000295622.1	+	1	852	c.812C>A	c.(811-813)tCt>tAt	p.S271Y	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	271										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGAAGAAGTTCTGAGAAGACT	0.488																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(811-813)tCt>tAt		chromosome 3 open reading frame 30							83.0	82.0	82.0					3																	118865848		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865848C>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.812C>A	3.37:g.118865848C>A	ENSP00000295622:p.Ser271Tyr						p.S271Y	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	852	+			271					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.812C>A	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.54|11.54	1.667710|1.667710	0.29604|0.29604	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000460150;ENST00000473121;ENST00000492792|ENST00000295622;ENST00000470341	.|T	.|0.50548	.|0.74	2.42|2.42	-0.667|-0.667	0.11395|0.11395	.|.	.|.	.|.	.|.	.|.	T|T	0.33469|0.33469	0.0864|0.0864	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|P;P	.|0.41784	.|0.762;0.762	.|B;B	.|0.35353	.|0.201;0.201	T|T	0.32134|0.32134	-0.9918|-0.9918	5|9	.|0.62326	.|D	.|0.03	-2.1205|-2.1205	0.492|0.492	0.00565|0.00565	0.1965:0.3503:0.1933:0.26|0.1965:0.3503:0.1933:0.26	.|.	.|271;271	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	L|Y	234;63;5|271	.|ENSP00000295622:S271Y	.|ENSP00000295622:S271Y	F|S	+|+	3|2	2|0	C3orf30|C3orf30	120348538|120348538	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-0.115000|-0.115000	0.10741|0.10741	-0.179000|-0.179000	0.10654|0.10654	0.467000|0.467000	0.42956|0.42956	TTC|TCT		0.488	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		45	49	1	0	2.95478e-19	1	4.01807e-19	45	49				
MALAT1	378938	broad.mit.edu	37	11	65268580	65268580	+	lincRNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:65268580G>T	ENST00000534336.1	+	0	3348				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTAGTTGGGGTAATGAAGTA	0.338																																						ENST00000534336.1																			0																				77.0	84.0	82.0					11																	65268580		874	1988	2862			0							g.chr11:65268580G>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268580G>T								NR_002819.2						0	3348	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.338	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		16	42	1	0	1.15088e-07	1	1.32965e-07	16	42				
PAQR3	152559	broad.mit.edu	37	4	79845024	79845024	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:79845024C>T	ENST00000512733.1	-	5	993	c.780G>A	c.(778-780)gaG>gaA	p.E260E	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron|PAQR3_ENST00000380645.4_Silent_p.E260E	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	260					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GAAAGTACCGCTCTGGGACTT	0.368																																						ENST00000512733.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(778-780)gaG>gaA		progestin and adipoQ receptor family member III							83.0	78.0	80.0					4																	79845024		2203	4300	6503	SO:0001819	synonymous_variant	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79845024C>T	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.780G>A	4.37:g.79845024C>T						PAQR3_ENST00000380645.4_Silent_p.E260E|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron	p.E260E	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN			5	993	-			260					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Silent	SNP	ENST00000512733.1	37	c.780G>A	CCDS34020.1																																																																																				0.368	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		16	17	0	0	0	1	0	16	17				
STARD13	90627	broad.mit.edu	37	13	33703873	33703873	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33703873G>A	ENST00000336934.5	-	5	1057	c.941C>T	c.(940-942)tCg>tTg	p.S314L	STARD13_ENST00000255486.4_Missense_Mutation_p.S306L|STARD13_ENST00000399365.3_Missense_Mutation_p.S196L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	314					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGTGGCGGCGAATTCTGGAG	0.602																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(940-942)tCg>tTg		StAR-related lipid transfer (START) domain containing 13							102.0	102.0	102.0					13																	33703873		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703873G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.941C>T	13.37:g.33703873G>A	ENSP00000338785:p.Ser314Leu					STARD13_ENST00000255486.4_Missense_Mutation_p.S306L|STARD13_ENST00000399365.3_Missense_Mutation_p.S196L	p.S314L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1057	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	314					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.941C>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.475266	0.01035	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06608	3.28;3.29;3.29	5.92	3.24	0.37175	.	0.975277	0.08435	N	0.946336	T	0.04452	0.0122	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.14012	0.009;0.002;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.44298	-0.9337	10	0.27082	T	0.32	.	8.0669	0.30665	0.3577:0.0:0.6423:0.0	.	306;279;314;306	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	196;306;314;306	ENSP00000382300:S196L;ENSP00000255486:S306L;ENSP00000338785:S314L	ENSP00000255486:S306L	S	-	2	0	STARD13	32601873	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.654000	0.24918	0.837000	0.34925	0.655000	0.94253	TCG		0.602	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		35	64	0	0	0	1	0	35	64				
RALGDS	5900	broad.mit.edu	37	9	135983592	135983592	+	Missense_Mutation	SNP	G	G	A	rs151046197		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135983592G>A	ENST00000372050.3	-	6	1001	c.980C>T	c.(979-981)tCg>tTg	p.S327L	RALGDS_ENST00000393157.3_Missense_Mutation_p.S326L|RALGDS_ENST00000393160.3_Missense_Mutation_p.S272L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.S398L|RALGDS_ENST00000372062.3_Missense_Mutation_p.S298L|RALGDS_ENST00000372047.3_Missense_Mutation_p.S315L	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	327					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CGCTGGAGCCGATTCTAGTCC	0.597			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(814-816)tCg>tTg		ral guanine nucleotide dissociation stimulator		G	LEU/SER,LEU/SER	0,4402		0,0,2201	28.0	31.0	30.0		815,980	0.3	0.0	9	dbSNP_134	30	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RALGDS	NM_001042368.1,NM_006266.2	145,145	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	272/860,327/915	135983592	1,13001	2201	4300	6501	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135983592G>A	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.980C>T	9.37:g.135983592G>A	ENSP00000361120:p.Ser327Leu					RALGDS_ENST00000372062.3_Missense_Mutation_p.S298L|RALGDS_ENST00000542690.1_Missense_Mutation_p.S398L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.S327L|RALGDS_ENST00000372047.3_Missense_Mutation_p.S315L|RALGDS_ENST00000393157.3_Missense_Mutation_p.S326L	p.S272L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	1168	-			327					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.815C>T	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	8.051	0.765978	0.15983	0.0	1.16E-4	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.37584	1.7;1.19;1.71;1.68;1.85;1.19	4.29	0.276	0.15663	Ras guanine nucleotide exchange factor, domain (1);	1.577830	0.03392	N	0.201995	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.0;0.0;0.0;0.0	T	0.18053	-1.0349	10	0.15499	T	0.54	.	8.0752	0.30712	0.33:0.0:0.67:0.0	.	398;298;327;315;272;326;315;327	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	L	327;315;272;96;326;398;298	ENSP00000361120:S327L;ENSP00000361117:S315L;ENSP00000376867:S272L;ENSP00000376864:S326L;ENSP00000437518:S398L;ENSP00000361132:S298L	ENSP00000361117:S315L	S	-	2	0	RALGDS	134973413	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.058000	0.30504	-0.048000	0.13401	-1.130000	0.01982	TCG		0.597	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		20	19	0	0	0	1	0	20	19				
XRCC2	7516	broad.mit.edu	37	7	152346402	152346402	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:152346402T>G	ENST00000359321.1	-	3	253	c.168A>C	c.(166-168)gaA>gaC	p.E56D	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	56					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GATAAAGCATTTCTGTTTTTC	0.373								Homologous recombination																														ENST00000359321.1																			0				NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(166-168)gaA>gaC	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							98.0	84.0	89.0					7																	152346402		2203	4300	6503	SO:0001583	missense	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346402T>G	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.168A>C	7.37:g.152346402T>G	ENSP00000352271:p.Glu56Asp					XRCC2_ENST00000495707.1_5'UTR	p.E56D	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	253	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	56					B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	c.168A>C	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937024	0.73557	.	.	ENSG00000196584	ENST00000359321	T	0.39229	1.09	5.5	3.15	0.36227	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.73598	2.24	0.52501	D	0.999953	P	0.46859	0.885	P	0.58130	0.833	T	0.55023	-0.8205	10	0.72032	D	0.01	-27.6475	8.1746	0.31275	0.0:0.3068:0.0:0.6932	.	56	O43543	XRCC2_HUMAN	D	56	ENSP00000352271:E56D	ENSP00000352271:E56D	E	-	3	2	XRCC2	151977335	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.855000	0.39378	0.401000	0.25424	0.482000	0.46254	GAA		0.373	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		25	36	0	0	0	1	0	25	36				
MIR495	574453	broad.mit.edu	37	14	101500140	101500140	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:101500140G>A	ENST00000385010.1	+	0	49				MIR543_ENST00000390751.1_RNA	NR_030175.1				microRNA 495																		TATATGTGACGAAACAAACAT	0.507																																						ENST00000385010.1																			0																				71.0	66.0	67.0					14																	101500140		1567	3582	5149			0							g.chr14:101500140G>A			14q32.31	2011-09-12		2008-12-18	ENSG00000207743	ENSG00000207743		"""ncRNAs / Micro RNAs"""	32085	non-coding RNA	RNA, micro		615149		MIRN495			Standard	NR_030175		Approved	hsa-mir-495	uc021scu.1				14.37:g.101500140G>A								NR_030175.1						0	49	+									RNA	SNP	ENST00000385010.1	37																																																																																						0.507	MIR495-201	KNOWN	basic	miRNA	miRNA		NR_030175		10	10	0	0	0	1	0	10	10				
CCDC7	79741	broad.mit.edu	37	10	32745259	32745259	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32745259A>C	ENST00000362006.5	+	4	996	c.453A>C	c.(451-453)caA>caC	p.Q151H	CCDC7_ENST00000545067.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000539197.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000277657.6_Missense_Mutation_p.Q151H|CCDC7_ENST00000537047.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000535327.1_Missense_Mutation_p.Q151H	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	151										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AAGAAGAACAAAATGTATGTA	0.313																																						ENST00000545067.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(451-453)caA>caC		coiled-coil domain containing 7							74.0	73.0	73.0					10																	32745259		2202	4294	6496	SO:0001583	missense	221016							g.chr10:32745259A>C	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.453A>C	10.37:g.32745259A>C	ENSP00000355078:p.Gln151His					CCDC7_ENST00000535327.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000537047.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000539197.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000362006.5_Missense_Mutation_p.Q151H|CCDC7_ENST00000277657.6_Missense_Mutation_p.Q151H	p.Q151H			Q96M83	CCDC7_HUMAN			4	749	+		Breast(68;0.000207)|Prostate(175;0.0107)	151					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.453A>C	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	A	0.346	-0.947772	0.02304	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006;ENST00000545067;ENST00000539197;ENST00000537047;ENST00000535327	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.72	-6.51	0.01878	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19063	-1.0317	9	0.39692	T	0.17	-4.7994	4.5445	0.12074	0.3616:0.3627:0.0:0.2757	.	151;151	A6YT98;Q96M83	.;CCDC7_HUMAN	H	151	ENSP00000277657:Q151H;ENSP00000355078:Q151H;ENSP00000439930:Q151H;ENSP00000441041:Q151H;ENSP00000440632:Q151H;ENSP00000442531:Q151H	ENSP00000277657:Q151H	Q	+	3	2	CCDC7	32785265	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.843000	0.04350	-0.718000	0.04949	-0.339000	0.08088	CAA		0.313	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		12	18	0	0	0	1	0	12	18				
CGREF1	10669	broad.mit.edu	37	2	27324190	27324190	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27324190T>C	ENST00000260595.5	-	7	1150	c.858A>G	c.(856-858)caA>caG	p.Q286Q	CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Silent_p.Q425Q|CGREF1_ENST00000402394.1_Silent_p.Q303Q|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Silent_p.Q303Q|CGREF1_ENST00000405600.1_Silent_p.Q303Q			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	286					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGTCATTTTGGGTGTTCT	0.532																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(907-909)caA>caG		cell growth regulator with EF-hand domain 1							185.0	184.0	184.0					2																	27324190		2203	4300	6503	SO:0001819	synonymous_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324190T>C	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.858A>G	2.37:g.27324190T>C						CGREF1_ENST00000260595.5_Silent_p.Q286Q|CGREF1_ENST00000405600.1_Silent_p.Q303Q|CGREF1_ENST00000404694.3_Silent_p.Q425Q|CGREF1_ENST00000312734.4_Silent_p.Q303Q|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron	p.Q303Q	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1177	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		286					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Silent	SNP	ENST00000260595.5	37	c.909A>G																																																																																					0.532	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		69	139	0	0	0	1	0	69	139				
LRP2	4036	broad.mit.edu	37	2	170042459	170042459	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170042459G>T	ENST00000263816.3	-	50	9684	c.9399C>A	c.(9397-9399)ttC>ttA	p.F3133L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3133	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGGAACAATAGAAACTGGTTA	0.443																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9397-9399)ttC>ttA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						86.0	85.0	85.0					2																	170042459		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042459G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9399C>A	2.37:g.170042459G>T	ENSP00000263816:p.Phe3133Leu						p.F3133L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9684	-			3133			EGF-like 11.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9399C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038857	0.75617	.	.	ENSG00000081479	ENST00000263816	D	0.95918	-3.85	5.88	2.74	0.32292	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96769	0.8945	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95911	0.8923	10	0.54805	T	0.06	.	10.914	0.47124	0.2622:0.0:0.7378:0.0	.	3133	P98164	LRP2_HUMAN	L	3133	ENSP00000263816:F3133L	ENSP00000263816:F3133L	F	-	3	2	LRP2	169750705	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.422000	0.52749	0.825000	0.34637	0.655000	0.94253	TTC		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		25	30	1	0	4.72057e-08	1	5.51616e-08	25	30				
MMP26	56547	broad.mit.edu	37	11	5013298	5013298	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5013298G>A	ENST00000380390.1	+	6	916	c.700G>A	c.(700-702)Gac>Aac	p.D234N	MMP26_ENST00000300762.1_Missense_Mutation_p.D234N			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	234					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CTGGTATCACGACCCTAGAAC	0.488																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(700-702)Gac>Aac		matrix metallopeptidase 26							86.0	77.0	80.0					11																	5013298		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013298G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.700G>A	11.37:g.5013298G>A	ENSP00000369753:p.Asp234Asn					MMP26_ENST00000300762.1_Missense_Mutation_p.D234N	p.D234N			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	6	916	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	234					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.700G>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	1.772	-0.484086	0.04383	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.20881	2.04;2.04	3.79	0.173	0.15036	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.457213	0.17864	N	0.159411	T	0.09423	0.0232	N	0.11698	0.16	0.09310	N	0.999998	B	0.17038	0.02	B	0.12156	0.007	T	0.32824	-0.9892	10	0.23302	T	0.38	-1.7104	6.861	0.24067	0.4181:0.0:0.5819:0.0	.	234	Q9NRE1	MMP26_HUMAN	N	234	ENSP00000369753:D234N;ENSP00000300762:D234N	ENSP00000300762:D234N	D	+	1	0	MMP26	4969874	0.005000	0.15991	0.001000	0.08648	0.081000	0.17604	-0.058000	0.11750	-0.177000	0.10690	-0.367000	0.07326	GAC		0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		19	27	0	0	0	1	0	19	27				
SLC12A7	10723	broad.mit.edu	37	5	1057651	1057651	+	Silent	SNP	G	G	A	rs139553130		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1057651G>A	ENST00000264930.5	-	22	3004	c.2961C>T	c.(2959-2961)atC>atT	p.I987I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	987					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACTTCTCAGCGATCAGCTTCT	0.612																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2959-2961)atC>atT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	A		1,4405	825.6+/-416.5	0,1,2202	182.0	154.0	163.0		2961	-6.4	0.0	5	dbSNP_134	163	0,8600		0,0,4300	no	coding-synonymous	SLC12A7	NM_006598.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		987/1084	1057651	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1057651G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2961C>T	5.37:g.1057651G>A							p.I987I	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		22	3004	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		987					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.2961C>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.563924	0.00903	2.27E-4	0.0	ENSG00000113504	ENST00000513223	.	.	.	3.39	-6.43	0.01926	.	.	.	.	.	T	0.25865	0.0630	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23297	-1.0192	4	.	.	.	.	6.8812	0.24174	0.286:0.0:0.556:0.158	.	.	.	.	C	345	.	.	R	-	1	0	SLC12A7	1110651	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-5.139000	0.00147	-2.203000	0.00744	-2.858000	0.00101	CGC		0.612	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		75	123	0	0	0	1	0	75	123				
POLR1B	84172	broad.mit.edu	37	2	113308539	113308539	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113308539G>A	ENST00000263331.5	+	5	1302	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	POLR1B_ENST00000541869.1_Missense_Mutation_p.R279Q|POLR1B_ENST00000537335.1_Missense_Mutation_p.R30Q|POLR1B_ENST00000409894.3_Missense_Mutation_p.R241Q|POLR1B_ENST00000417433.2_Missense_Mutation_p.R185Q	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	241					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTTATTTACCGAAAAGAACTG	0.378																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(721-723)cGa>cAa		polymerase (RNA) I polypeptide B, 128kDa							228.0	214.0	218.0					2																	113308539		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113308539G>A	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.722G>A	2.37:g.113308539G>A	ENSP00000263331:p.Arg241Gln					POLR1B_ENST00000417433.2_Missense_Mutation_p.R185Q|POLR1B_ENST00000409894.3_Missense_Mutation_p.R241Q|POLR1B_ENST00000541869.1_Missense_Mutation_p.R279Q|POLR1B_ENST00000537335.1_Missense_Mutation_p.R30Q	p.R241Q	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			5	1302	+			241					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.722G>A	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233817	0.58886	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.02	2.8	0.32819	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.222954	0.47852	N	0.000220	T	0.59321	0.2185	L	0.28649	0.875	0.49687	D	0.999818	B;B;B;B	0.19583	0.01;0.037;0.003;0.001	B;B;B;B	0.15484	0.01;0.007;0.013;0.01	T	0.48969	-0.8987	10	0.19590	T	0.45	-14.94	4.7208	0.12917	0.422:0.0:0.578:0.0	.	279;241;185;241	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	Q	241;279;241;30;185	ENSP00000263331:R241Q;ENSP00000444136:R279Q;ENSP00000387143:R241Q;ENSP00000437914:R30Q;ENSP00000405358:R185Q	ENSP00000263331:R241Q	R	+	2	0	POLR1B	113025010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.282000	0.51693	1.247000	0.43917	0.650000	0.86243	CGA		0.378	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		20	82	0	0	0	1	0	20	82				
BCL10	8915	broad.mit.edu	37	1	85736388	85736388	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:85736388G>A	ENST00000370580.1	-	2	996	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	87	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TTTTCTCGCCGAATAGATTCA	0.353			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		0				haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(259-261)Cgg>Tgg		B-cell CLL/lymphoma 10							111.0	113.0	112.0					1																	85736388		2203	4300	6503	SO:0001583	missense	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736388G>A	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.259C>T	1.37:g.85736388G>A	ENSP00000359612:p.Arg87Trp						p.R87W	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	996	-			87			CARD.		Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	c.259C>T	CCDS704.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771880	0.69992	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.23348	1.91	5.99	2.97	0.34412	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.85682	D	0.000000	T	0.11623	0.0283	L	0.53249	1.67	0.44825	D	0.997834	B	0.34200	0.441	B	0.30646	0.118	T	0.04413	-1.0953	10	0.87932	D	0	-9.1049	9.715	0.40270	0.0669:0.0:0.5243:0.4088	.	87	O95999	BCL10_HUMAN	W	87	ENSP00000359612:R87W	ENSP00000271015:R87W	R	-	1	2	BCL10	85508976	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.357000	0.34090	0.794000	0.33899	0.655000	0.94253	CGG		0.353	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		19	33	0	0	0	1	0	19	33				
PPP4R2	151987	broad.mit.edu	37	3	73114163	73114163	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:73114163G>A	ENST00000356692.5	+	8	1052	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	PPP4R2_ENST00000295862.9_Missense_Mutation_p.E211K|PPP4R2_ENST00000394284.3_Missense_Mutation_p.E210K			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	267					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GACTTCCAGCGAAATTTCTTC	0.448																																						ENST00000356692.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12						c.(799-801)Gaa>Aaa		protein phosphatase 4, regulatory subunit 2							64.0	68.0	67.0					3																	73114163		2203	4300	6503	SO:0001583	missense	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73114163G>A	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.799G>A	3.37:g.73114163G>A	ENSP00000349124:p.Glu267Lys					PPP4R2_ENST00000295862.9_Missense_Mutation_p.E211K|PPP4R2_ENST00000394284.3_Missense_Mutation_p.E210K	p.E267K			Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	8	1052	+		Prostate(10;0.0187)|Lung SC(41;0.236)	267					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	ENST00000356692.5	37	c.799G>A	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910995	0.52439	.	.	ENSG00000163605	ENST00000356692;ENST00000394284;ENST00000295862	T;T;T	0.42513	1.01;0.97;1.02	5.05	5.05	0.67936	.	0.632665	0.18041	N	0.153604	T	0.46288	0.1385	L	0.44542	1.39	0.58432	D	0.999999	D;P	0.56968	0.978;0.909	P;B	0.47603	0.551;0.348	T	0.48875	-0.8996	10	0.56958	D	0.05	.	18.7745	0.91904	0.0:0.0:1.0:0.0	.	210;267	Q9NY27-2;Q9NY27	.;PP4R2_HUMAN	K	267;210;211	ENSP00000349124:E267K;ENSP00000377825:E210K;ENSP00000295862:E211K	ENSP00000295862:E211K	E	+	1	0	PPP4R2	73196853	1.000000	0.71417	0.099000	0.21106	0.011000	0.07611	8.147000	0.89628	2.494000	0.84150	0.585000	0.79938	GAA		0.448	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		16	41	0	0	0	1	0	16	41				
ABCA5	23461	broad.mit.edu	37	17	67257334	67257334	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67257334G>A	ENST00000392676.3	-	26	3560	c.3496C>T	c.(3496-3498)Ctt>Ttt	p.L1166F	ABCA5_ENST00000392677.2_Missense_Mutation_p.L1167F|ABCA5_ENST00000588877.1_Missense_Mutation_p.L1166F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1166					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GCATAATGAAGAATAGTTGCA	0.289																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(3496-3498)Ctt>Ttt		ATP-binding cassette, sub-family A (ABC1), member 5							47.0	47.0	47.0					17																	67257334		2201	4291	6492	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67257334G>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3496C>T	17.37:g.67257334G>A	ENSP00000376443:p.Leu1166Phe					ABCA5_ENST00000392677.2_Missense_Mutation_p.L1167F|ABCA5_ENST00000588877.1_Missense_Mutation_p.L1166F	p.L1166F			Q8WWZ7	ABCA5_HUMAN			26	3560	-	Breast(10;3.72e-11)		1166					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.3496C>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572843	0.28092	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.89746	-2.56;-2.56	5.33	1.99	0.26369	.	0.219887	0.31922	N	0.006849	T	0.80253	0.4589	L	0.39245	1.2	0.49798	D	0.99982	B	0.10296	0.003	B	0.16722	0.016	T	0.65405	-0.6176	9	.	.	.	.	4.7497	0.13054	0.2157:0.0:0.6186:0.1657	.	1166	Q8WWZ7	ABCA5_HUMAN	F	1167;1166	ENSP00000376444:L1167F;ENSP00000376443:L1166F	.	L	-	1	0	ABCA5	64768929	0.982000	0.34865	0.794000	0.32065	0.484000	0.33280	1.540000	0.36115	0.165000	0.19558	0.650000	0.86243	CTT		0.289	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		4	27	0	0	0	1	0	4	27				
GALR1	2587	broad.mit.edu	37	18	74980781	74980781	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:74980781G>T	ENST00000299727.3	+	3	973	c.973G>T	c.(973-975)Gat>Tat	p.D325Y		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	325					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CATTCGCAAAGATTCACACCT	0.388																																						ENST00000299727.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(973-975)Gat>Tat		galanin receptor 1							78.0	82.0	81.0					18																	74980781		2203	4300	6503	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74980781G>T	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.973G>T	18.37:g.74980781G>T	ENSP00000299727:p.Asp325Tyr						p.D325Y	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	3	973	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	325					Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.973G>T	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228078	0.22542	.	.	ENSG00000166573	ENST00000299727	T	0.37235	1.21	4.86	-0.588	0.11687	.	0.730840	0.13165	N	0.408722	T	0.29288	0.0729	L	0.55481	1.735	0.09310	N	1	B	0.16166	0.016	B	0.15052	0.012	T	0.29518	-1.0009	10	0.59425	D	0.04	.	6.5117	0.22226	0.3635:0.1176:0.5189:0.0	.	325	P47211	GALR1_HUMAN	Y	325	ENSP00000299727:D325Y	ENSP00000299727:D325Y	D	+	1	0	GALR1	73109769	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.174000	0.09839	0.121000	0.18284	0.460000	0.39030	GAT		0.388	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			12	100	1	0	9.05144e-12	1	1.13153e-11	12	100				
XPNPEP2	7512	broad.mit.edu	37	X	128902444	128902444	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128902444C>A	ENST00000371106.3	+	21	2200	c.2008C>A	c.(2008-2010)Ctt>Att	p.L670I		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	670						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCTTGCCATCCTTGGCTGGAG	0.612																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(2008-2010)Ctt>Att		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							24.0	25.0	25.0					X																	128902444		2203	4298	6501	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128902444C>A	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.2008C>A	X.37:g.128902444C>A	ENSP00000360147:p.Leu670Ile						p.L670I	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			21	2200	+			670					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.2008C>A	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781199	0.31502	.	.	ENSG00000122121	ENST00000371106	T	0.57595	0.39	4.74	2.95	0.34219	.	0.159985	0.39146	N	0.001460	T	0.43875	0.1267	L	0.52759	1.655	0.09310	N	1	B	0.24618	0.107	B	0.27262	0.078	T	0.41610	-0.9499	10	0.59425	D	0.04	-12.8667	6.4622	0.21962	0.0:0.7722:0.0:0.2278	.	670	O43895	XPP2_HUMAN	I	670	ENSP00000360147:L670I	ENSP00000360147:L670I	L	+	1	0	XPNPEP2	128730125	0.248000	0.23930	0.003000	0.11579	0.055000	0.15305	0.905000	0.28504	0.419000	0.25927	0.594000	0.82650	CTT		0.612	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		7	29	1	0	0.0293803	1	0.0299069	7	29				
HMGCR	3156	broad.mit.edu	37	5	74655286	74655286	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74655286A>C	ENST00000287936.4	+	18	2518	c.2362A>C	c.(2362-2364)Aat>Cat	p.N788H	HMGCR_ENST00000511206.1_Missense_Mutation_p.N788H|HMGCR_ENST00000343975.5_Missense_Mutation_p.N735H	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	788	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGGTCCCACAAATGAAGATTT	0.408																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(2362-2364)Aat>Cat		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						82.0	84.0	83.0					5																	74655286		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74655286A>C		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2362A>C	5.37:g.74655286A>C	ENSP00000287936:p.Asn788His					HMGCR_ENST00000511206.1_Missense_Mutation_p.N788H|HMGCR_ENST00000343975.5_Missense_Mutation_p.N735H	p.N788H	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	18	2518	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	788			Catalytic.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.2362A>C	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.037083	0.54896	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286	T;T;T	0.46819	0.86;0.86;0.86	4.69	4.69	0.59074	Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.154247	0.64402	D	0.000017	T	0.34250	0.0891	L	0.32530	0.975	0.48040	D	0.999572	B;P;B	0.39094	0.001;0.659;0.006	B;B;B	0.29353	0.027;0.101;0.018	T	0.37220	-0.9715	10	0.66056	D	0.02	-14.9769	14.3204	0.66482	1.0:0.0:0.0:0.0	.	788;735;788	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	H	788;719;788;735;165	ENSP00000426745:N788H;ENSP00000287936:N788H;ENSP00000340816:N735H	ENSP00000287936:N788H	N	+	1	0	HMGCR	74691042	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	6.123000	0.71614	1.956000	0.56807	0.533000	0.62120	AAT		0.408	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			10	30	0	0	0	1	0	10	30				
MTHFS	10588	broad.mit.edu	37	15	80137564	80137564	+	Silent	SNP	C	C	T	rs150067777	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:80137564C>T	ENST00000258874.3	-	3	660	c.600G>A	c.(598-600)tcG>tcA	p.S200S	ST20-MTHFS_ENST00000494999.1_5'Flank|ST20-MTHFS_ENST00000479961.1_Silent_p.S176S|RP11-38G5.4_ENST00000567415.1_lincRNA	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	200					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AAGCTGTTGACGAGTCTTCGT	0.393													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19647	0.0		0.0	False		,,,				2504	0.0					ENST00000258874.3																			0				endometrium(3)|large_intestine(1)|liver(1)	5						c.(598-600)tcG>tcA		5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)		C	,,	4,4402	8.1+/-20.4	0,4,2199	130.0	112.0	118.0		429,528,600	-3.9	0.0	15	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MTHFS,ST20-MTHFS	NM_001199758.1,NM_001199760.1,NM_006441.3	,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,	143/147,176/180,200/204	80137564	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10588				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding	g.chr15:80137564C>T	L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.600G>A	15.37:g.80137564C>T						ST20-MTHFS_ENST00000479961.1_Silent_p.S176S	p.S200S	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN		all cancers(203;0.00467)	3	660	-			200					H3BQ75	Silent	SNP	ENST00000258874.3	37	c.600G>A	CCDS10311.1																																																																																				0.393	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291374.2	NM_006441		31	52	0	0	0	1	0	31	52				
MORC1	27136	broad.mit.edu	37	3	108724067	108724067	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:108724067C>A	ENST00000483760.1	-	18	1843	c.1800G>T	c.(1798-1800)caG>caT	p.Q600H	MORC1_ENST00000232603.5_Missense_Mutation_p.Q621H					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTTTCTTTTCTGTCCTCTAC	0.378																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1861-1863)caG>caT		MORC family CW-type zinc finger 1							66.0	68.0	67.0					3																	108724067		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108724067C>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1800G>T	3.37:g.108724067C>A	ENSP00000417282:p.Gln600His					MORC1_ENST00000483760.1_Missense_Mutation_p.Q600H	p.Q621H	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			19	1945	-			621						Missense_Mutation	SNP	ENST00000483760.1	37	c.1863G>T		.	.	.	.	.	.	.	.	.	.	C	6.026	0.373195	0.11409	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06449	3.3;3.3	4.23	-2.47	0.06442	.	1.584030	0.03772	N	0.259868	T	0.05135	0.0137	N	0.24115	0.695	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.43940	-0.9360	10	0.48119	T	0.1	0.248	6.787	0.23679	0.0:0.6267:0.1665:0.2068	.	600;621	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	621;600	ENSP00000232603:Q621H;ENSP00000417282:Q600H	ENSP00000232603:Q621H	Q	-	3	2	MORC1	110206757	0.004000	0.15560	0.000000	0.03702	0.014000	0.08584	-0.051000	0.11885	-0.391000	0.07763	-0.484000	0.04775	CAG		0.378	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			12	26	1	0	3.27435e-08	1	3.83577e-08	12	26				
CNDP1	84735	broad.mit.edu	37	18	72247405	72247405	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:72247405A>C	ENST00000358821.3	+	10	1435	c.1207A>C	c.(1207-1209)Agt>Cgt	p.S403R	CNDP1_ENST00000582365.1_Missense_Mutation_p.S360R	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	403						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.S403G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CAAAAGAAATAGTTCCAACAA	0.388																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			1	Substitution - Missense(1)	p.S403G(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1078-1080)Agt>Cgt		carnosine dipeptidase 1 (metallopeptidase M20 family)							111.0	104.0	106.0					18																	72247405		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72247405A>C		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1207A>C	18.37:g.72247405A>C	ENSP00000351682:p.Ser403Arg					CNDP1_ENST00000358821.3_Missense_Mutation_p.S403R	p.S360R			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	9	1144	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	403					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1078A>C	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012104	0.75046	.	.	ENSG00000150656	ENST00000358821	T	0.17528	2.27	5.04	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62388	-0.6865	10	0.87932	D	0	-11.8824	10.3063	0.43683	0.8522:0.0:0.0:0.1478	.	403	Q96KN2	CNDP1_HUMAN	R	403	ENSP00000351682:S403R	ENSP00000351682:S403R	S	+	1	0	CNDP1	70398385	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	5.972000	0.70448	0.741000	0.32674	0.460000	0.39030	AGT		0.388	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		11	15	0	0	0	1	0	11	15				
COL19A1	1310	broad.mit.edu	37	6	70859890	70859890	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:70859890C>A	ENST00000322773.4	+	30	2092	c.1990C>A	c.(1990-1992)Cca>Aca	p.P664T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P286T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	664	Collagen-like 6.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCAGGGAGTTCCAGGGAGAGA	0.483																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1990-1992)Cca>Aca		collagen, type XIX, alpha 1							94.0	107.0	103.0					6																	70859890		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70859890C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1990C>A	6.37:g.70859890C>A	ENSP00000316030:p.Pro664Thr					COL19A1_ENST00000393344.1_Missense_Mutation_p.P286T	p.P664T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			30	2092	+			664			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1990C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824856	0.50739	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.96651	-4.08;-4.08	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.98178	0.9398	M	0.83852	2.665	0.51482	D	0.999928	D	0.89917	1.0	D	0.91635	0.999	D	0.98288	1.0512	10	0.62326	D	0.03	.	18.7402	0.91770	0.0:1.0:0.0:0.0	.	664	Q14993	COJA1_HUMAN	T	664;286	ENSP00000316030:P664T;ENSP00000377013:P286T	ENSP00000316030:P664T	P	+	1	0	COL19A1	70916611	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.298000	0.65710	2.868000	0.98415	0.555000	0.69702	CCA		0.483	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			42	83	1	0	8.20599e-20	1	1.12023e-19	42	83				
SSR4	6748	broad.mit.edu	37	X	153063544	153063544	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153063544G>A	ENST00000320857.3	+	6	1454	c.370G>A	c.(370-372)Gac>Aac	p.D124N	SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370086.3_Missense_Mutation_p.D124N|SSR4_ENST00000370087.1_Missense_Mutation_p.D124N|SSR4_ENST00000370085.3_Missense_Mutation_p.D99N	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	124					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|Sec61 translocon complex (GO:0005784)				central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAATAACGAGGACATTTCCAT	0.602																																						ENST00000320857.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)	4						c.(370-372)Gac>Aac		signal sequence receptor, delta							220.0	199.0	206.0					X																	153063544		2203	4300	6503	SO:0001583	missense	6748				intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding	g.chrX:153063544G>A	BC032351	CCDS14731.1	Xq28	2011-08-31	2011-08-31		ENSG00000180879	ENSG00000180879			11326	protein-coding gene	gene with protein product	"""translocon-associated protein delta"""	300090				9286695	Standard	NM_001204526		Approved	TRAPD	uc022chw.1	P51571	OTTHUMG00000024212	ENST00000320857.3:c.370G>A	X.37:g.153063544G>A	ENSP00000317331:p.Asp124Asn					SSR4_ENST00000370087.1_Missense_Mutation_p.D124N|SSR4_ENST00000370085.3_Missense_Mutation_p.D99N|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370086.3_Missense_Mutation_p.D124N	p.D124N	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN			6	1454	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		124					A8K378|Q53XY1	Missense_Mutation	SNP	ENST00000320857.3	37	c.370G>A	CCDS14731.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021423	0.93462	.	.	ENSG00000180879	ENST00000320857;ENST00000370087;ENST00000370086;ENST00000370085	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.80183	2.485	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.60173	0.87;0.828	T	0.69680	-0.5080	10	0.48119	T	0.1	-32.694	15.6582	0.77158	0.0:0.0:1.0:0.0	.	124;99	P51571;A6NLM8	SSRD_HUMAN;.	N	124;124;124;99	ENSP00000317331:D124N;ENSP00000359104:D124N;ENSP00000359103:D124N;ENSP00000359102:D99N	ENSP00000317331:D124N	D	+	1	0	SSR4	152716738	1.000000	0.71417	0.462000	0.27118	0.917000	0.54804	8.252000	0.89840	2.409000	0.81822	0.529000	0.55759	GAC		0.602	SSR4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061029.1	NM_006280		66	151	0	0	0	1	0	66	151				
VPS51	738	broad.mit.edu	37	11	64876790	64876790	+	Silent	SNP	C	C	T	rs147241001		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64876790C>T	ENST00000279281.3	+	6	1574	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	VPS51_ENST00000527646.1_3'UTR|TM7SF2_ENST00000279263.7_5'Flank|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_5'Flank|TM7SF2_ENST00000345348.5_5'Flank	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	494					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGGGCCTCATCGTGGGCTTCG	0.617																																						ENST00000279281.3																			0											c.(1480-1482)atC>atT		vacuolar protein sorting 51 homolog (S. cerevisiae)							91.0	87.0	88.0					11																	64876790		2201	4297	6498	SO:0001819	synonymous_variant	738							g.chr11:64876790C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1482C>T	11.37:g.64876790C>T						VPS51_ENST00000527646.1_3'UTR	p.I494I	NM_013265.2	NP_037397.2					6	1574	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	c.1482C>T	CCDS8093.1																																																																																				0.617	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		23	35	0	0	0	1	0	23	35				
PCOLCE2	26577	broad.mit.edu	37	3	142548671	142548671	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142548671C>A	ENST00000295992.3	-	6	1034	c.728G>T	c.(727-729)aGa>aTa	p.R243I	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	243	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAGTTCATTTCTCTCAGACAC	0.303																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(727-729)aGa>aTa		procollagen C-endopeptidase enhancer 2							86.0	89.0	88.0					3																	142548671		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142548671C>A	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.728G>T	3.37:g.142548671C>A	ENSP00000295992:p.Arg243Ile					PCOLCE2_ENST00000485766.1_Intron	p.R243I	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			6	1034	-			243			CUB 2.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.728G>T	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305153	0.40795	.	.	ENSG00000163710	ENST00000295992	T	0.28666	1.6	5.31	-2.9	0.05648	CUB (5);	0.460473	0.25857	N	0.027849	T	0.25158	0.0611	L	0.35542	1.07	0.58432	D	0.999999	B	0.31705	0.336	B	0.39027	0.288	T	0.05451	-1.0884	10	0.56958	D	0.05	-0.6522	13.107	0.59253	0.0:0.4248:0.0:0.5752	.	243	Q9UKZ9	PCOC2_HUMAN	I	243	ENSP00000295992:R243I	ENSP00000295992:R243I	R	-	2	0	PCOLCE2	144031361	0.148000	0.22702	0.751000	0.31187	0.831000	0.47069	-0.261000	0.08694	-0.674000	0.05253	-0.218000	0.12543	AGA		0.303	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		29	37	1	0	1.2476e-16	1	1.66396e-16	29	37				
C15orf27	123591	broad.mit.edu	37	15	76462186	76462186	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:76462186C>A	ENST00000388942.3	+	6	762	c.486C>A	c.(484-486)atC>atA	p.I162I		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	162					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TGCTTGGGATCTGGGATTACA	0.498																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(484-486)atC>atA		chromosome 15 open reading frame 27							293.0	294.0	294.0					15																	76462186		1922	4125	6047	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76462186C>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.486C>A	15.37:g.76462186C>A							p.I162I	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			6	762	+			162					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.486C>A	CCDS10289.2																																																																																				0.498	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		86	152	1	0	5.56898e-48	1	8.07487e-48	86	152				
ACTN3	89	broad.mit.edu	37	11	66319048	66319048	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66319048C>A	ENST00000502692.1	+	0	557				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCCACAAAATCGCCAACGTTA	0.547																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							70.0	73.0	72.0					11																	66319048		2160	4282	6442			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66319048C>A	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66319048C>A						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	409	+								A6NP77|Q4KKV2	RNA	SNP	ENST00000502692.1	37																																																																																						0.547	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		26	34	1	0	8.24728e-16	1	1.09065e-15	26	34				
MMACHC	25974	broad.mit.edu	37	1	45965208	45965208	+	5'Flank	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45965208T>G	ENST00000401061.4	+	0	0				CCDC163P_ENST00000502793.2_5'Flank|CCDC163P_ENST00000490551.3_Missense_Mutation_p.N25T|CCDC163P_ENST00000432082.1_Missense_Mutation_p.N25T|CCDC163P_ENST00000488405.2_Missense_Mutation_p.N25T	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria						cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCACCTTATTCCGGACCAC	0.547																																						ENST00000490551.3																			0				cervix(1)|endometrium(1)	2						c.(73-75)aAt>aCt									77.0	76.0	76.0					1																	45965208		1938	4147	6085	SO:0001631	upstream_gene_variant	0							g.chr1:45965208T>G		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742		1.37:g.45965208T>G	Exception_encountered					CCDC163P_ENST00000432082.1_Missense_Mutation_p.N25T|CCDC163P_ENST00000488405.2_Missense_Mutation_p.N25T	p.N25T							1	438	-								Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.74A>C	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	t	5.333	0.246798	0.10130	.	.	ENSG00000236624	ENST00000490551;ENST00000432082;ENST00000488405	.	.	.	5.27	2.97	0.34412	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.24481	N	0.994348	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.20505	-1.0273	7	0.26408	T	0.33	.	4.6681	0.12675	0.7448:0.0:0.0882:0.1669	.	25;25	E9PLD6;F2Z3K3	.;.	T	25	.	ENSP00000431736:N25T	N	-	2	0	CCDC163P	45737795	1.000000	0.71417	0.998000	0.56505	0.071000	0.16799	1.713000	0.37951	0.463000	0.27118	-0.277000	0.10078	AAT		0.547	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		7	19	0	0	0	1	0	7	19				
ASXL2	55252	broad.mit.edu	37	2	25966456	25966456	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25966456G>A	ENST00000435504.4	-	13	3043	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.S889L|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	917					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGTGCTCGAGGGTGGAGC	0.473																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(2749-2751)tCg>tTg		additional sex combs like 2 (Drosophila)							96.0	98.0	98.0					2																	25966456		1935	4140	6075	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966456G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2750C>T	2.37:g.25966456G>A	ENSP00000391447:p.Ser917Leu					ASXL2_ENST00000336112.4_Missense_Mutation_p.S889L|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron	p.S917L			Q76L83	ASXL2_HUMAN			13	3043	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		917					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.2750C>T		.	.	.	.	.	.	.	.	.	.	G	5.905	0.351130	0.11182	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.19105	2.17;2.17	5.48	-1.03	0.10102	.	0.616054	0.17472	N	0.173070	T	0.11793	0.0287	N	0.21583	0.68	0.28419	N	0.917839	B	0.14438	0.01	B	0.08055	0.003	T	0.12167	-1.0558	10	0.87932	D	0	1.2149	6.5866	0.22624	0.4479:0.1174:0.4347:0.0	.	917	Q76L83	ASXL2_HUMAN	L	917;889	ENSP00000391447:S917L;ENSP00000337250:S889L	ENSP00000337250:S889L	S	-	2	0	ASXL2	25819960	0.001000	0.12720	0.031000	0.17742	0.839000	0.47603	-0.078000	0.11375	-0.544000	0.06232	-0.379000	0.06801	TCG		0.473	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		51	101	0	0	0	1	0	51	101				
TCTN3	26123	broad.mit.edu	37	10	97443223	97443223	+	Intron	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97443223C>T	ENST00000371217.5	-	10	1227				TCTN3_ENST00000371209.5_Missense_Mutation_p.G420D|TCTN3_ENST00000430368.2_Intron|TCTN3_ENST00000265993.9_Intron			Q6NUS6	TECT3_HUMAN	tectonic family member 3						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)		AGTTTGAAAGCCTTTGCAGCT	0.368																																						ENST00000371209.5																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(1258-1260)gGc>gAc		tectonic family member 3																																				SO:0001627	intron_variant	26123				apoptosis	integral to membrane		g.chr10:97443223C>T	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.1203+55G>A	10.37:g.97443223C>T						TCTN3_ENST00000265993.8_Intron|TCTN3_ENST00000371217.4_Intron|TCTN3_ENST00000430368.1_Intron	p.G420D			Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	10	1258	-		Colorectal(252;0.0815)	0					A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.1259G>A	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	C	6.753	0.507698	0.12883	.	.	ENSG00000119977	ENST00000371209	D	0.82711	-1.64	3.47	1.52	0.23074	.	.	.	.	.	T	0.66877	0.2834	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49380	-0.8946	8	0.21014	T	0.42	.	4.1402	0.10189	0.2466:0.626:0.0:0.1274	.	420	Q6NUS6-2	.	D	420	ENSP00000360253:G420D	ENSP00000360253:G420D	G	-	2	0	TCTN3	97433213	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-0.980000	0.03770	0.256000	0.21614	0.563000	0.77884	GGC		0.368	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		7	19	0	0	0	1	0	7	19				
ZNF443	10224	broad.mit.edu	37	19	12542031	12542031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12542031T>G	ENST00000301547.5	-	4	1152	c.955A>C	c.(955-957)Agt>Cgt	p.S319R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	319					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CCGGAAACACTGAAGGCTTTC	0.438																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(955-957)Agt>Cgt		zinc finger protein 443							145.0	139.0	141.0					19																	12542031		2203	4299	6502	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542031T>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.955A>C	19.37:g.12542031T>G	ENSP00000301547:p.Ser319Arg					CTD-3105H18.16_ENST00000595562.1_Intron	p.S319R	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1152	-			319						Missense_Mutation	SNP	ENST00000301547.5	37	c.955A>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	6.888	0.533386	0.13188	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07216	3.21	1.1	0.00677	0.14068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07818	0.0196	N	0.05177	-0.1	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.28713	-1.0035	9	0.25106	T	0.35	.	1.4554	0.02384	0.3166:0.2311:0.0:0.4523	.	319	Q9Y2A4	ZN443_HUMAN	R	319	ENSP00000301547:S319R	ENSP00000301547:S319R	S	-	1	0	ZNF443	12403031	0.000000	0.05858	0.001000	0.08648	0.127000	0.20565	-1.116000	0.03286	-0.044000	0.13491	0.378000	0.23410	AGT		0.438	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		65	108	0	0	0	1	0	65	108				
PIBF1	10464	broad.mit.edu	37	13	73467988	73467988	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:73467988A>C	ENST00000326291.6	+	11	1727	c.1389A>C	c.(1387-1389)aaA>aaC	p.K463N		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	463						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)		GTAAATTAAAATCTTTTGAAA	0.348																																						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.(1387-1389)aaA>aaC		progesterone immunomodulatory binding factor 1							70.0	71.0	71.0					13																	73467988		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73467988A>C	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.1389A>C	13.37:g.73467988A>C	ENSP00000317144:p.Lys463Asn						p.K463N	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	11	1727	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	463					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1389A>C	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612251	0.66672	.	.	ENSG00000083535	ENST00000326291	T	0.34859	1.34	5.0	-0.426	0.12314	.	0.214304	0.47455	D	0.000230	T	0.50326	0.1609	M	0.71036	2.16	0.48185	D	0.999602	D;D	0.71674	0.998;0.993	D;P	0.66351	0.943;0.88	T	0.45804	-0.9236	10	0.21540	T	0.41	-26.4568	12.3919	0.55362	0.3803:0.0:0.6197:0.0	.	463;463	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	N	463	ENSP00000317144:K463N	ENSP00000317144:K463N	K	+	3	2	PIBF1	72365989	0.999000	0.42202	0.987000	0.45799	0.994000	0.84299	0.630000	0.24553	-0.250000	0.09555	0.528000	0.53228	AAA		0.348	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		13	32	0	0	0	1	0	13	32				
GABRB2	2561	broad.mit.edu	37	5	160761811	160761811	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160761811G>A	ENST00000393959.1	-	7	779	c.780C>T	c.(778-780)tcC>tcT	p.S260S	GABRB2_ENST00000274547.2_Silent_p.S260S|GABRB2_ENST00000517547.1_Silent_p.S100S|GABRB2_ENST00000517901.1_Silent_p.S197S|GABRB2_ENST00000520240.1_Silent_p.S260S|GABRB2_ENST00000353437.6_Silent_p.S260S			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	260					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGAGACCCAGGAGAGGATGG	0.433																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(778-780)tcC>tcT		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						173.0	156.0	162.0					5																	160761811		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160761811G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.780C>T	5.37:g.160761811G>A						GABRB2_ENST00000517547.1_Silent_p.S100S|GABRB2_ENST00000353437.6_Silent_p.S260S|GABRB2_ENST00000520240.1_Silent_p.S260S|GABRB2_ENST00000393959.1_Silent_p.S260S|GABRB2_ENST00000517901.1_Silent_p.S197S	p.S260S	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	997	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	260					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.780C>T	CCDS4355.1																																																																																				0.433	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			18	39	0	0	0	1	0	18	39				
NLRP7	199713	broad.mit.edu	37	19	55449593	55449593	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55449593T>G	ENST00000590030.1	-	4	1988	c.1948A>C	c.(1948-1950)Att>Ctt	p.I650L	NLRP7_ENST00000340844.2_Missense_Mutation_p.I650L|NLRP7_ENST00000446217.1_Missense_Mutation_p.I678L|NLRP7_ENST00000592784.1_Missense_Mutation_p.I650L|NLRP7_ENST00000588756.1_Missense_Mutation_p.I650L|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000448121.2_Intron			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	650							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAGTTCGGAATGGTTAGGTAA	0.488																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2032-2034)Att>Ctt		NLR family, pyrin domain containing 7							86.0	81.0	82.0					19																	55449593		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55449593T>G	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1948A>C	19.37:g.55449593T>G	ENSP00000465520:p.Ile650Leu					NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000340844.2_Missense_Mutation_p.I650L|NLRP7_ENST00000592784.1_Missense_Mutation_p.I650L|NLRP7_ENST00000590030.1_Missense_Mutation_p.I650L|NLRP7_ENST00000588756.1_Missense_Mutation_p.I650L	p.I678L			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2434	-			650					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2032A>C	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.240052	0.00274	.	.	ENSG00000167634	ENST00000328092;ENST00000340844;ENST00000446217;ENST00000399724	T;T	0.50001	0.76;0.76	1.36	-1.08	0.09936	.	.	.	.	.	T	0.11922	0.0290	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27905	-1.0060	9	0.02654	T	1	.	1.9637	0.03391	0.365:0.0:0.3671:0.2679	.	678;650;650	E7EPM2;Q32MH9;Q8WX94	.;.;NALP7_HUMAN	L	650;650;678;417	ENSP00000339491:I650L;ENSP00000414273:I678L	ENSP00000329568:I650L	I	-	1	0	NLRP7	60141405	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.033000	0.12246	-0.227000	0.09884	-1.444000	0.01066	ATT		0.488	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		30	60	0	0	0	1	0	30	60				
BAIAP3	8938	broad.mit.edu	37	16	1394064	1394064	+	Silent	SNP	C	C	T	rs368561329		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1394064C>T	ENST00000324385.5	+	16	1691	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	BAIAP3_ENST00000426824.3_Silent_p.F476F|BAIAP3_ENST00000421665.2_Silent_p.F440F|BAIAP3_ENST00000397489.1_Silent_p.F493F|BAIAP3_ENST00000562208.1_Silent_p.F453F|BAIAP3_ENST00000397488.2_Silent_p.F493F|BAIAP3_ENST00000568887.1_Silent_p.F448F	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	511					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCTCTGAGTTCGGGCTGCAGC	0.657																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1531-1533)ttC>ttT		BAI1-associated protein 3		C	,,,,	1,4397	2.1+/-5.4	0,1,2198	46.0	41.0	43.0		1320,1428,1359,1344,1533	-4.8	0.5	16		43	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	,,,,	440/1117,476/1153,453/1130,448/1125,511/1188	1394064	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1394064C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1533C>T	16.37:g.1394064C>T						BAIAP3_ENST00000568887.1_Silent_p.F448F|BAIAP3_ENST00000562208.1_Silent_p.F453F|BAIAP3_ENST00000421665.2_Silent_p.F440F|BAIAP3_ENST00000397488.2_Silent_p.F493F|BAIAP3_ENST00000397489.1_Silent_p.F493F|BAIAP3_ENST00000426824.3_Silent_p.F476F	p.F511F	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			16	1691	+		Hepatocellular(780;0.0893)	511					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	c.1533C>T	CCDS10434.1																																																																																				0.657	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			18	37	0	0	0	1	0	18	37				
CAGE1	285782	broad.mit.edu	37	6	7373600	7373600	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7373600G>T	ENST00000512086.1	-	5	1654	c.1452C>A	c.(1450-1452)ttC>ttA	p.F484L	CAGE1_ENST00000379918.4_Missense_Mutation_p.F484L|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000502583.1_Missense_Mutation_p.F484L|CAGE1_ENST00000296742.7_Missense_Mutation_p.F348L|CAGE1_ENST00000338150.4_Missense_Mutation_p.F484L			Q8TC20	CAGE1_HUMAN	cancer antigen 1	484										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GTAAAGACAAGAACTCTTGTT	0.398																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1450-1452)ttC>ttA		cancer antigen 1							61.0	53.0	55.0					6																	7373600		1804	4072	5876	SO:0001583	missense	285782							g.chr6:7373600G>T	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1452C>A	6.37:g.7373600G>T	ENSP00000427583:p.Phe484Leu					CAGE1_ENST00000512086.1_Missense_Mutation_p.F484L|CAGE1_ENST00000379918.4_Missense_Mutation_p.F484L|CAGE1_ENST00000338150.4_Missense_Mutation_p.F484L|CAGE1_ENST00000296742.7_Missense_Mutation_p.F348L	p.F484L	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			5	2016	-	Ovarian(93;0.0418)		484					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1452C>A		.	.	.	.	.	.	.	.	.	.	G	12.72	2.021556	0.35701	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.48	2.21	0.28008	.	0.434585	0.22043	N	0.065436	T	0.20455	0.0492	L	0.47716	1.5	0.29170	N	0.877206	D;B;B	0.61697	0.99;0.004;0.004	P;B;B	0.54060	0.741;0.004;0.009	T	0.08911	-1.0699	10	0.05620	T	0.96	-0.1124	8.5538	0.33469	0.0:0.1309:0.5545:0.3145	.	484;484;484	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	L	484;484;484;348;484;484;484;496	ENSP00000369250:F484L;ENSP00000425493:F484L;ENSP00000296742:F348L;ENSP00000427583:F484L;ENSP00000338107:F484L;ENSP00000423789:F496L	ENSP00000296742:F348L	F	-	3	2	CAGE1	7318599	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.715000	0.37971	0.608000	0.30000	0.591000	0.81541	TTC		0.398	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		12	11	1	0	0.0135373	1	0.0139058	12	11				
MYBPC1	4604	broad.mit.edu	37	12	102038555	102038555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102038555G>T	ENST00000550270.1	+	10	871	c.871G>T	c.(871-873)Gaa>Taa	p.E291*	MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.E279*|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000552081.1_RNA|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000549145.1_Nonsense_Mutation_p.E304*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.E277*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.E272*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.E278*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.E316*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.E316*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.E265*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.E192*			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	291	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAATGGTCAAGAAATTCGACC	0.398																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(910-912)Gaa>Taa		myosin binding protein C, slow type							83.0	77.0	79.0					12																	102038555		2203	4300	6503	SO:0001587	stop_gained	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102038555G>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.871G>T	12.37:g.102038555G>T	ENSP00000449702:p.Glu291*					MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.E265*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.E192*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.E278*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.E316*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.E272*|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.E279*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.E277*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.E316*	p.E304*			Q00872	MYPC1_HUMAN			11	1010	+			291	HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987).		Ig-like C2-type 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Nonsense_Mutation	SNP	ENST00000550270.1	37	c.910G>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	38	7.124115	0.98081	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	.	.	.	5.8	5.8	0.92144	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6671	0.95896	0.0:0.0:1.0:0.0	.	.	.	.	X	265;291;291;291;278;277;316;304;291;316;291;272;279;316;192;291	.	ENSP00000353822:E291X	E	+	1	0	MYBPC1	100562686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.741000	0.93983	0.655000	0.94253	GAA		0.398	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			8	13	1	0	0.00448238	1	0.00465112	8	13				
ATP8B1	5205	broad.mit.edu	37	18	55338749	55338749	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:55338749C>T	ENST00000283684.4	-	16	1882	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	ATP8B1_ENST00000536015.1_Missense_Mutation_p.R628Q|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	628			R -> W (in BRIC1). {ECO:0000269|PubMed:15239083}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCGATGTAACCGTTCATAAAT	0.373																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(1882-1884)cGg>cAg		ATPase, aminophospholipid transporter, class I, type 8B, member 1							174.0	150.0	158.0					18																	55338749		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55338749C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1883G>A	18.37:g.55338749C>T	ENSP00000283684:p.Arg628Gln					ATP8B1_ENST00000283684.4_Missense_Mutation_p.R628Q|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	p.R628Q	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			17	2002	-		Colorectal(73;0.229)	628		R -> W (in BRIC1).			Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1883G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761464	0.96906	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.72615	-0.67;-0.67	6.02	6.02	0.97574	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.88400	0.6426	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89548	0.3797	10	0.72032	D	0.01	.	20.1358	0.98028	0.0:1.0:0.0:0.0	.	628	O43520	AT8B1_HUMAN	Q	628	ENSP00000283684:R628Q;ENSP00000445359:R628Q	ENSP00000283684:R628Q	R	-	2	0	ATP8B1	53489747	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.796000	0.85898	2.865000	0.98341	0.655000	0.94253	CGG		0.373	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		12	37	0	0	0	1	0	12	37				
USP6	9098	broad.mit.edu	37	17	5064861	5064861	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5064861G>A	ENST00000574788.1	+	32	5097	c.2867G>A	c.(2866-2868)cGa>cAa	p.R956Q	USP6_ENST00000304328.5_Missense_Mutation_p.R639Q|USP6_ENST00000250066.6_Missense_Mutation_p.R956Q|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	956	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTCACTCTACGAGTTGTGCAG	0.393			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(2866-2868)cGa>cAa		ubiquitin specific peptidase 6 (Tre-2 oncogene)							132.0	123.0	126.0					17																	5064861		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5064861G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2867G>A	17.37:g.5064861G>A	ENSP00000460380:p.Arg956Gln					USP6_ENST00000250066.6_Missense_Mutation_p.R956Q|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R639Q	p.R956Q			P35125	UBP6_HUMAN			32	5097	+			956					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2867G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783259	0.49891	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.18016	2.58;2.24	2.45	2.45	0.29901	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	L	0.39514	1.22	0.42171	D	0.991641	D;D	0.76494	0.999;0.983	D;P	0.77557	0.99;0.456	T	0.02877	-1.1099	10	0.52906	T	0.07	.	10.7278	0.46079	0.0:0.0:1.0:0.0	.	639;956	P35125-2;P35125	.;UBP6_HUMAN	Q	956;639	ENSP00000250066:R956Q;ENSP00000305473:R639Q	ENSP00000250066:R956Q	R	+	2	0	USP6	5005585	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	7.498000	0.81546	1.389000	0.46526	0.134000	0.15878	CGA		0.393	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		16	36	0	0	0	1	0	16	36				
PROZ	8858	broad.mit.edu	37	13	113824786	113824786	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:113824786T>G	ENST00000375547.2	+	7	640	c.633T>G	c.(631-633)aaT>aaG	p.N211K	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000342783.4_Missense_Mutation_p.N233K	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TACGGGAAAATTTTGTACTGA	0.299																																						ENST00000342783.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(697-699)aaT>aaG		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						61.0	66.0	64.0					13																	113824786		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113824786T>G	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.633T>G	13.37:g.113824786T>G	ENSP00000364697:p.Asn211Lys					PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.N211K	p.N233K	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		8	706	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	211			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.699T>G	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	T	7.983	0.751591	0.15778	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.89343	-2.5;-2.5	4.02	-5.96	0.02234	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.358290	0.30455	U	0.009598	D	0.84051	0.5387	L	0.51422	1.61	0.21184	N	0.999762	P;P	0.42908	0.793;0.786	B;B	0.42386	0.268;0.386	T	0.79612	-0.1731	10	0.87932	D	0	.	13.8922	0.63747	0.0:0.3154:0.0:0.6846	.	233;211	P22891-2;P22891	.;PROZ_HUMAN	K	211;233	ENSP00000364697:N211K;ENSP00000344458:N233K	ENSP00000344458:N233K	N	+	3	2	PROZ	112872787	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-1.471000	0.02344	-1.754000	0.01321	-1.843000	0.00578	AAT		0.299	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		14	27	0	0	0	1	0	14	27				
ADAM21	8747	broad.mit.edu	37	14	70924467	70924467	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70924467C>A	ENST00000603540.1	+	2	509	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S84Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	84					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTCTTAGTTTCTAGACACCTC	0.512																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(250-252)tCt>tAt		ADAM metallopeptidase domain 21							87.0	86.0	86.0					14																	70924467		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924467C>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.251C>A	14.37:g.70924467C>A	ENSP00000474385:p.Ser84Tyr					ADAM21_ENST00000267499.3_Missense_Mutation_p.S84Y|RP11-486O13.4_ENST00000556646.1_lincRNA	p.S84Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	509	+			84					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.251C>A	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192266	0.21954	.	.	ENSG00000139985	ENST00000267499	T	0.07114	3.22	3.56	3.56	0.40772	Peptidase M12B, propeptide (1);	0.176773	0.27023	U	0.021311	T	0.28797	0.0714	M	0.90425	3.115	0.09310	N	1	P	0.49090	0.919	P	0.53954	0.738	T	0.19745	-1.0296	10	0.87932	D	0	.	15.6616	0.77190	0.0:1.0:0.0:0.0	.	84	Q9UKJ8	ADA21_HUMAN	Y	84	ENSP00000267499:S84Y	ENSP00000267499:S84Y	S	+	2	0	ADAM21	69994220	0.009000	0.17119	0.354000	0.25760	0.033000	0.12548	2.336000	0.43938	1.981000	0.57761	0.563000	0.77884	TCT		0.512	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			13	122	1	0	1.67942e-08	1	1.98515e-08	13	122				
LARP1	23367	broad.mit.edu	37	5	154179268	154179268	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154179268C>T	ENST00000336314.4	+	9	1288	c.1264C>T	c.(1264-1266)Ctt>Ttt	p.L422F		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	499	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCTCCCAGCTTCTCAACTG	0.507																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1264-1266)Ctt>Ttt		La ribonucleoprotein domain family, member 1							162.0	158.0	159.0					5																	154179268		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154179268C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1264C>T	5.37:g.154179268C>T	ENSP00000336721:p.Leu422Phe						p.L422F	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		9	1288	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	499			HTH La-type RNA-binding.		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1264C>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946948	0.53186	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.51817	1.79;1.32;1.34;0.8;0.69	5.95	5.95	0.96441	.	0.116239	0.64402	D	0.000011	T	0.41949	0.1181	L	0.34521	1.04	0.48901	D	0.999724	B;B	0.27286	0.125;0.174	B;B	0.36244	0.037;0.22	T	0.19976	-1.0289	10	0.22109	T	0.4	-14.9269	13.987	0.64341	0.0:0.9227:0.0:0.0773	.	499;422	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	F	422;499;294;207;106	ENSP00000336721:L422F;ENSP00000428589:L499F;ENSP00000429904:L294F;ENSP00000430438:L207F;ENSP00000431072:L106F	ENSP00000336721:L422F	L	+	1	0	LARP1	154159461	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.896000	0.63222	2.824000	0.97209	0.655000	0.94253	CTT		0.507	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		35	88	0	0	0	1	0	35	88				
AVIL	10677	broad.mit.edu	37	12	58197112	58197112	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58197112T>C	ENST00000257861.3	-	15	2310	c.1880A>G	c.(1879-1881)cAa>cGa	p.Q627R	RP11-571M6.17_ENST00000602802.1_lincRNA|RNU6-1083P_ENST00000384022.1_RNA|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000537081.1_Missense_Mutation_p.Q620R|AVIL_ENST00000550083.1_5'UTR	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	627	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACAACGAATTGGCCGGTCTT	0.478											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(1858-1860)cAa>cGa		advillin							219.0	191.0	200.0					12																	58197112		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58197112T>C	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1880A>G	12.37:g.58197112T>C	ENSP00000257861:p.Gln627Arg		OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1029	AVIL_ENST00000257861.3_Missense_Mutation_p.Q627R|AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron	p.Q620R			O75366	AVIL_HUMAN			15	1858	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		627			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1859A>G	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.585869	0.00872	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.21932	1.98;1.98	5.27	2.43	0.29744	.	0.175931	0.50627	N	0.000116	T	0.03220	0.0094	N	0.00124	-2.055	0.24861	N	0.992348	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.43621	-0.9380	10	0.02654	T	1	-8.6516	8.8074	0.34945	0.0:0.7438:0.0:0.2562	.	620;627	O75366-2;O75366	.;AVIL_HUMAN	R	620;627	ENSP00000443207:Q620R;ENSP00000257861:Q627R	ENSP00000257861:Q627R	Q	-	2	0	AVIL	56483379	0.372000	0.25064	0.218000	0.23776	0.008000	0.06430	0.715000	0.25822	0.214000	0.20742	-0.366000	0.07423	CAA		0.478	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		58	78	0	0	0	1	0	58	78				
PLCE1	51196	broad.mit.edu	37	10	96030304	96030304	+	Nonsense_Mutation	SNP	C	C	A	rs121912605		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96030304C>A	ENST00000371380.3	+	17	4686	c.4451C>A	c.(4450-4452)tCg>tAg	p.S1484*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.S1176*|PLCE1_ENST00000260766.3_Nonsense_Mutation_p.S1484*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.S1176*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1484	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis). {ECO:0000269|PubMed:17086182}.		activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCATCATATCGATTGAGAAC	0.438																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8	GRCh37	CM066177	PLCE1	M	rs121912605	c.(4450-4452)tCg>tAg		phospholipase C, epsilon 1							132.0	126.0	128.0					10																	96030304		1989	4160	6149	SO:0001587	stop_gained	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96030304C>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4451C>A	10.37:g.96030304C>A	ENSP00000360431:p.Ser1484*					PLCE1_ENST00000371380.2_Nonsense_Mutation_p.S1484*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.S1176*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.S1176*	p.S1484*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			18	5085	+		Colorectal(252;0.0458)	1484		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis).	PI-PLC X-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	c.4451C>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	49	15.207746	0.99826	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0562	0.93066	0.0:1.0:0.0:0.0	.	.	.	.	X	1484;1484;1176;1176	.	ENSP00000260766:S1484X	S	+	2	0	PLCE1	96020294	1.000000	0.71417	0.962000	0.40283	0.898000	0.52572	7.776000	0.85560	2.676000	0.91093	0.557000	0.71058	TCG		0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		31	58	1	0	5.60225e-13	1	7.13348e-13	31	58				
KIF19	124602	broad.mit.edu	37	17	72350678	72350678	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72350678T>G	ENST00000389916.4	+	18	2824	c.2686T>G	c.(2686-2688)Ttc>Gtc	p.F896V	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	896					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GTCCCGATCCTTCGAGGTCAC	0.642																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2686-2688)Ttc>Gtc		kinesin family member 19							14.0	19.0	17.0					17																	72350678		2003	4122	6125	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72350678T>G	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2686T>G	17.37:g.72350678T>G	ENSP00000374566:p.Phe896Val						p.F896V	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			18	2824	+			896					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.2686T>G	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382956	0.82792	.	.	ENSG00000196169	ENST00000389916	T	0.75260	-0.92	4.81	4.81	0.61882	.	.	.	.	.	T	0.73552	0.3601	M	0.61703	1.905	0.50313	D	0.999862	P	0.48294	0.908	P	0.44422	0.449	T	0.75665	-0.3239	9	0.45353	T	0.12	.	13.4105	0.60940	0.0:0.0:0.0:1.0	.	896	Q2TAC6	KIF19_HUMAN	V	896	ENSP00000374566:F896V	ENSP00000374566:F896V	F	+	1	0	KIF19	69862273	1.000000	0.71417	0.999000	0.59377	0.709000	0.40893	3.969000	0.56816	1.813000	0.52934	0.454000	0.30748	TTC		0.642	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		4	4	0	0	0	1	0	4	4				
C9orf131	138724	broad.mit.edu	37	9	35044595	35044595	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35044595G>A	ENST00000312292.5	+	2	2016	c.1969G>A	c.(1969-1971)Gta>Ata	p.V657I	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.V584I|C9orf131_ENST00000421362.2_Missense_Mutation_p.V609I	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	657										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AAAGTCCCACGTAAGTGAGCC	0.527																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1969-1971)Gta>Ata		chromosome 9 open reading frame 131							80.0	79.0	79.0					9																	35044595		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35044595G>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1969G>A	9.37:g.35044595G>A	ENSP00000308279:p.Val657Ile					C9orf131_ENST00000421362.2_Missense_Mutation_p.V609I|C9orf131_ENST00000354479.5_Missense_Mutation_p.V584I	p.V657I	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2016	+	all_epithelial(49;0.22)		657					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.1969G>A	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	2.099	-0.406498	0.04832	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.13657	2.57;2.57;2.57	4.04	-4.8	0.03190	.	1.264020	0.05429	N	0.545621	T	0.03477	0.0100	N	0.02286	-0.61	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.34675	-0.9819	10	0.07325	T	0.83	-0.0406	1.9173	0.03300	0.3289:0.1507:0.3737:0.1468	.	132;657;584;609	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	I	609;584;657;132	ENSP00000393683:V609I;ENSP00000346472:V584I;ENSP00000308279:V657I	ENSP00000308279:V657I	V	+	1	0	C9orf131	35034595	0.000000	0.05858	0.067000	0.19924	0.371000	0.29859	-0.106000	0.10890	-0.953000	0.03645	-0.238000	0.12139	GTA		0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		39	73	0	0	0	1	0	39	73				
ANK1	286	broad.mit.edu	37	8	41753901	41753901	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41753901C>A	ENST00000265709.8	-	1	379	c.98G>T	c.(97-99)aGa>aTa	p.R33I		NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	458	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGAGCGGTTTCTCCGCTTCCT	0.627																																						ENST00000265709.8																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(97-99)aGa>aTa		ankyrin 1, erythrocytic							66.0	60.0	62.0					8																	41753901		1568	3582	5150	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41753901C>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000265709.8:c.98G>T	8.37:g.41753901C>A	ENSP00000265709:p.Arg33Ile						p.R33I	NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		1	379	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	458			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000265709.8	37	c.98G>T	CCDS47849.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.319436	0.81469	.	.	ENSG00000029534	ENST00000265709	T	0.65549	-0.16	3.67	3.67	0.42095	.	.	.	.	.	T	0.62344	0.2420	.	.	.	0.80722	D	1	P	0.52061	0.95	P	0.50708	0.648	T	0.59043	-0.7528	8	0.18276	T	0.48	.	15.3595	0.74460	0.0:1.0:0.0:0.0	.	33	P16157-21	.	I	33	ENSP00000265709:R33I	ENSP00000265709:R33I	R	-	2	0	ANK1	41873058	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	4.192000	0.58378	1.572000	0.49736	0.486000	0.48141	AGA		0.627	ANK1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377171.1	NM_020475		18	17	1	0	1.00905e-13	1	1.29777e-13	18	17				
ADH6	130	broad.mit.edu	37	4	100130081	100130081	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100130081G>T	ENST00000237653.7	-	6	956	c.572C>A	c.(571-573)aCt>aAt	p.T191N	ADH6_ENST00000394899.2_Missense_Mutation_p.T191N|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394897.1_Missense_Mutation_p.T191N	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	191					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	AGAACCTGGAGTCACCTAAAC	0.453																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(571-573)aCt>aAt		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						157.0	162.0	160.0					4																	100130081		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100130081G>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.572C>A	4.37:g.100130081G>T	ENSP00000237653:p.Thr191Asn					ADH6_ENST00000394899.2_Missense_Mutation_p.T191N|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.T191N|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000504257.1_5'UTR	p.T191N			P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	6	654	-			191					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.572C>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	6.076	0.382311	0.11524	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.22134	3.93;1.97;1.97;3.8	4.72	3.82	0.43975	GroES-like (1);	0.240627	0.42821	D	0.000656	T	0.38639	0.1048	M	0.89414	3.03	0.58432	D	0.999997	P;D;D	0.60160	0.68;0.987;0.984	B;P;P	0.52031	0.212;0.597;0.688	T	0.43294	-0.9400	10	0.87932	D	0	-20.6572	8.2008	0.31424	0.0859:0.0:0.6842:0.2299	.	191;191;191	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	N	191;191;191;127	ENSP00000378358:T191N;ENSP00000378359:T191N;ENSP00000237653:T191N;ENSP00000426187:T127N	ENSP00000237653:T191N	T	-	2	0	ADH6	100349104	0.075000	0.21258	0.236000	0.24074	0.014000	0.08584	2.299000	0.43611	2.321000	0.78463	0.563000	0.77884	ACT		0.453	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		22	259	1	0	1.28384e-07	1	1.48174e-07	22	259				
TRAPPC12	51112	broad.mit.edu	37	2	3428329	3428329	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3428329T>G	ENST00000324266.5	+	5	1507	c.1312T>G	c.(1312-1314)Ttg>Gtg	p.L438V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L438V	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	438					vesicle-mediated transport (GO:0016192)												ACTAGTGAAGTTGGGCCTTTT	0.423																																						ENST00000324266.5																			0											c.(1312-1314)Ttg>Gtg		trafficking protein particle complex 12							168.0	165.0	166.0					2																	3428329		2203	4300	6503	SO:0001583	missense	51112						binding	g.chr2:3428329T>G	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1312T>G	2.37:g.3428329T>G	ENSP00000324318:p.Leu438Val					TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L438V	p.L438V	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			5	1507	+			438					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1312T>G	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.74|19.74	3.883366|3.883366	0.72410|0.72410	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266|ENST00000441983	T;T|.	0.56275|.	0.47;0.47|.	5.6|5.6	-0.612|-0.612	0.11597|0.11597	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.75177|0.75177	0.3814|0.3814	M|M	0.88640|0.88640	2.97|2.97	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.76071|.	0.96;0.987|.	T|T	0.75687|0.75687	-0.3231|-0.3231	10|5	0.66056|.	D|.	0.02|.	.|.	10.2376|10.2376	0.43292|0.43292	0.0:0.6793:0.0:0.3207|0.0:0.6793:0.0:0.3207	.|.	421;438|.	E7ENL7;Q8WVT3|.	.;TPC12_HUMAN|.	V|R	438;421;438|117	ENSP00000371544:L438V;ENSP00000324318:L438V|.	ENSP00000303612:L421V|.	L|S	+|+	1|3	2|2	TTC15|TTC15	3407336|3407336	0.917000|0.917000	0.31117|0.31117	0.998000|0.998000	0.56505|0.56505	0.902000|0.902000	0.53008|0.53008	0.052000|0.052000	0.14163|0.14163	-0.071000|-0.071000	0.12886|0.12886	0.460000|0.460000	0.39030|0.39030	TTG|AGT		0.423	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		48	90	0	0	0	1	0	48	90				
HDAC6	10013	broad.mit.edu	37	X	48682971	48682971	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48682971G>T	ENST00000334136.5	+	29	3775	c.3597G>T	c.(3595-3597)aaG>aaT	p.K1199N	HDAC6_ENST00000444343.2_Missense_Mutation_p.K1213N|HDAC6_ENST00000376619.2_Missense_Mutation_p.K1199N			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1199					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TAGATGTGAAGAACATCGCCC	0.592																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3595-3597)aaG>aaT		histone deacetylase 6	Vorinostat(DB02546)						114.0	83.0	94.0					X																	48682971		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48682971G>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3597G>T	X.37:g.48682971G>T	ENSP00000334061:p.Lys1199Asn					HDAC6_ENST00000376619.2_Missense_Mutation_p.K1199N|HDAC6_ENST00000444343.2_Missense_Mutation_p.K1213N	p.K1199N			Q9UBN7	HDAC6_HUMAN			29	3775	+			1199					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.3597G>T	CCDS14306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.45|19.45	3.828989|3.828989	0.71258|0.71258	.|.	.|.	ENSG00000094631|ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619|ENST00000430858	T;T;T|.	0.31247|.	1.5;1.5;1.5|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Zinc finger, RING/FYVE/PHD-type (1);|.	0.104168|.	0.64402|.	D|.	0.000015|.	T|T	0.74207|0.74207	0.3686|0.3686	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.996;1.0;0.999;0.996|.	T|T	0.76274|0.76274	-0.3019|-0.3019	10|5	0.72032|.	D|.	0.01|.	-32.6785|-32.6785	9.5731|9.5731	0.39440|0.39440	0.0976:0.0:0.9024:0.0|0.0976:0.0:0.9024:0.0	.|.	1189;562;847;1199|.	B4DZN1;B3KY98;B3KVK5;Q9UBN7|.	.;.;.;HDAC6_HUMAN|.	N|I	1213;1199;1199|68	ENSP00000398566:K1213N;ENSP00000334061:K1199N;ENSP00000365804:K1199N|.	ENSP00000334061:K1199N|.	K|R	+|+	3|2	2|0	HDAC6|HDAC6	48567915|48567915	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.959000|0.959000	0.62525|0.62525	2.593000|2.593000	0.46180|0.46180	2.448000|2.448000	0.82819|0.82819	0.600000|0.600000	0.82982|0.82982	AAG|AGA		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		16	24	1	0	7.07596e-05	1	7.68259e-05	16	24				
ATP13A4	84239	broad.mit.edu	37	3	193207521	193207521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193207521C>A	ENST00000342695.4	-	7	1058	c.736G>T	c.(736-738)Gag>Tag	p.E246*	ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.E246*|ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.E246*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	246						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AAACTCACCTCTCTGAGATCA	0.318																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(736-738)Gag>Tag		ATPase type 13A4							110.0	118.0	115.0					3																	193207521		2203	4299	6502	SO:0001587	stop_gained	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193207521C>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.736G>T	3.37:g.193207521C>A	ENSP00000339182:p.Glu246*					ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.E246*|ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.E246*	p.E246*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	7	1058	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		246					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_Mutation	SNP	ENST00000342695.4	37	c.736G>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	34	5.385089	0.95967	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	.	.	.	5.35	-3.31	0.04988	.	0.652152	0.14887	N	0.292608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.3858	14.844	0.70246	0.0:0.1655:0.7004:0.1341	.	.	.	.	X	246	.	ENSP00000295548:E246X	E	-	1	0	ATP13A4	194690215	0.015000	0.18098	0.972000	0.41901	0.817000	0.46193	-1.422000	0.02453	-0.486000	0.06744	-0.523000	0.04350	GAG		0.318	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		18	83	1	0	1.67942e-08	1	1.98515e-08	18	83				
CPSF6	11052	broad.mit.edu	37	12	69650589	69650589	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69650589T>C	ENST00000435070.2	+	4	597	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L	CPSF6_ENST00000456847.3_Missense_Mutation_p.F163L|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.F163L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	163					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CAATAAACAGTTCCTGAGTCA	0.358																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(487-489)Ttc>Ctc		cleavage and polyadenylation specific factor 6, 68kDa							119.0	121.0	120.0					12																	69650589		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69650589T>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.487T>C	12.37:g.69650589T>C	ENSP00000391774:p.Phe163Leu					CPSF6_ENST00000456847.3_Missense_Mutation_p.F163L|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.F163L	p.F163L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		4	597	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		163					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.487T>C	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996338	0.54147	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.73575	-0.76;-0.76;-0.76	5.85	5.85	0.93711	.	0.044013	0.85682	D	0.000000	T	0.64338	0.2589	L	0.40543	1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58775	-0.7577	9	.	.	.	-4.249	11.6071	0.51039	0.1328:0.0:0.0:0.8672	.	163;163	Q16630-2;Q16630	.;CPSF6_HUMAN	L	163	ENSP00000391774:F163L;ENSP00000391437:F163L;ENSP00000266679:F163L	.	F	+	1	0	CPSF6	67936856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TTC		0.358	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		18	43	0	0	0	1	0	18	43				
ZNF470	388566	broad.mit.edu	37	19	57088168	57088168	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57088168G>T	ENST00000330619.8	+	6	1057	c.371G>T	c.(370-372)aGa>aTa	p.R124I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R124I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAATGGAAAGACTTAAAAGC	0.363																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(370-372)aGa>aTa		zinc finger protein 470							65.0	68.0	67.0					19																	57088168		2202	4298	6500	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088168G>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.371G>T	19.37:g.57088168G>T	ENSP00000333223:p.Arg124Ile					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R124I	p.R124I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1057	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	124					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.371G>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	6.500	0.460396	0.12342	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07444	3.19;3.19	4.03	1.74	0.24563	.	.	.	.	.	T	0.15998	0.0385	L	0.45352	1.415	0.09310	N	1	D	0.61697	0.99	D	0.66497	0.944	T	0.09509	-1.0671	9	0.52906	T	0.07	.	6.0467	0.19764	0.2623:0.0:0.7377:0.0	.	124	Q6ECI4	ZN470_HUMAN	I	124	ENSP00000375590:R124I;ENSP00000333223:R124I	ENSP00000333223:R124I	R	+	2	0	ZNF470	61779980	0.003000	0.15002	0.288000	0.24862	0.032000	0.12392	0.351000	0.20096	0.844000	0.35094	0.585000	0.79938	AGA		0.363	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		10	34	1	0	7.48243e-07	1	8.49459e-07	10	34				
VPS52	6293	broad.mit.edu	37	6	33236869	33236869	+	Missense_Mutation	SNP	C	C	T	rs556647168		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:33236869C>T	ENST00000445902.2	-	6	688	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000436044.2_Missense_Mutation_p.R32Q|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|RPS18_ENST00000439602.2_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	157					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATTTCGAAGTCGAATGTTCAT	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18840	0.0		0.0	False		,,,				2504	0.0					ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(469-471)cGa>cAa		vacuolar protein sorting 52 homolog (S. cerevisiae)							230.0	217.0	222.0					6																	33236869		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236869C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.470G>A	6.37:g.33236869C>T	ENSP00000409952:p.Arg157Gln					VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R32Q|VPS52_ENST00000482399.1_3'UTR	p.R157Q	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			6	688	-			157					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.470G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363379	0.24684	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.0	5.0	0.66597	.	0.056566	0.64402	D	0.000002	T	0.13243	0.0321	L	0.31207	0.915	0.47621	D	0.999479	B;P;B	0.41450	0.205;0.75;0.205	B;B;B	0.35727	0.034;0.209;0.034	T	0.12400	-1.0549	9	0.02654	T	1	-11.008	9.5446	0.39273	0.0:0.9061:0.0:0.0939	.	135;32;157	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	Q	157;135;32	.	ENSP00000414785:R135Q	R	-	2	0	VPS52	33344847	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.846000	0.55888	2.776000	0.95493	0.573000	0.79308	CGA		0.537	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		118	46	0	0	0	1	0	118	46				
PNMA5	114824	broad.mit.edu	37	X	152159547	152159547	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152159547C>T	ENST00000439251.1	-	2	1034	c.596G>A	c.(595-597)cGt>cAt	p.R199H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R199H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R199H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R199H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	199					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAGCAAACGCCGCCTCTT	0.557																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(595-597)cGt>cAt		paraneoplastic Ma antigen family member 5							83.0	73.0	76.0					X																	152159547		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159547C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.596G>A	X.37:g.152159547C>T	ENSP00000388850:p.Arg199His					PNMA5_ENST00000452693.1_Missense_Mutation_p.R199H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R199H|PNMA5_ENST00000361887.5_Missense_Mutation_p.R199H	p.R199H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1034	-	Acute lymphoblastic leukemia(192;6.56e-05)		199					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.596G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.719845	0.48728	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	3.05	2.18	0.27775	.	.	.	.	.	T	0.30008	0.0751	M	0.82716	2.605	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.05037	-1.0910	9	0.54805	T	0.06	.	5.562	0.17150	0.0:0.8415:0.0:0.1585	.	199	Q96PV4	PNMA5_HUMAN	H	199	ENSP00000354834:R199H;ENSP00000445775:R199H;ENSP00000388850:R199H;ENSP00000392342:R199H	ENSP00000354834:R199H	R	-	2	0	PNMA5	151910203	0.007000	0.16637	0.002000	0.10522	0.054000	0.15201	1.923000	0.40055	0.701000	0.31803	0.468000	0.43344	CGT		0.557	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		32	84	0	0	0	1	0	32	84				
OR10X1	128367	broad.mit.edu	37	1	158548750	158548750	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158548750A>C	ENST00000368150.1	-	1	939	c.940T>G	c.(940-942)Ttt>Gtt	p.F314V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATTCTTCTAAAAGCATTTTTC	0.433																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(940-942)Ttt>Gtt		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							131.0	136.0	134.0					1																	158548750		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548750A>C	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.940T>G	1.37:g.158548750A>C	ENSP00000357132:p.Phe314Val						p.F314V	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	939	-	all_hematologic(112;0.0378)		314					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.940T>G	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	8.766	0.924831	0.18056	.	.	ENSG00000186400	ENST00000368150	T	0.38077	1.16	4.5	3.29	0.37713	.	0.283030	0.25355	N	0.031273	T	0.07863	0.0197	N	0.13371	0.34	0.31442	N	0.671869	P	0.40431	0.717	B	0.35312	0.2	T	0.11494	-1.0585	10	0.27785	T	0.31	.	8.5674	0.33547	0.8278:0.0:0.0:0.1722	.	314	Q8NGY0	O10X1_HUMAN	V	314	ENSP00000357132:F314V	ENSP00000357132:F314V	F	-	1	0	OR10X1	156815374	0.003000	0.15002	0.886000	0.34754	0.045000	0.14185	0.260000	0.18424	2.001000	0.58596	0.460000	0.39030	TTT		0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		14	108	0	0	0	1	0	14	108				
SLC9A9	285195	broad.mit.edu	37	3	143082376	143082376	+	Silent	SNP	C	C	T	rs141051651	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:143082376C>T	ENST00000316549.6	-	14	1762	c.1554G>A	c.(1552-1554)acG>acA	p.T518T		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	518					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCTCTGCTTTCGTCATGTTTT	0.368													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16811	0.0		0.0	False		,,,				2504	0.0					ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1552-1554)acG>acA		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							138.0	132.0	134.0					3																	143082376		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143082376C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1554G>A	3.37:g.143082376C>T							p.T518T	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			14	1762	-			518					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.1554G>A	CCDS33872.1																																																																																				0.368	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		20	42	0	0	0	1	0	20	42				
C20orf195	79025	broad.mit.edu	37	20	62187143	62187143	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62187143G>T	ENST00000370098.3	+	2	219	c.127G>T	c.(127-129)Gag>Tag	p.E43*	C20orf195_ENST00000370097.1_Nonsense_Mutation_p.E43*	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	43						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GACCTACACCGAGCGCCGCAA	0.627																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(127-129)Gag>Tag		chromosome 20 open reading frame 195							53.0	50.0	51.0					20																	62187143		2203	4300	6503	SO:0001587	stop_gained	79025							g.chr20:62187143G>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.127G>T	20.37:g.62187143G>T	ENSP00000359116:p.Glu43*					C20orf195_ENST00000370097.1_Nonsense_Mutation_p.E43*	p.E43*	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	219	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		43						Nonsense_Mutation	SNP	ENST00000370098.3	37	c.127G>T	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178509	0.38511	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.25	4.29	0.51040	.	0.295308	0.23918	N	0.043266	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.2777	13.7896	0.63131	0.0:0.1542:0.8458:0.0	.	.	.	.	X	43	.	ENSP00000359115:E43X	E	+	1	0	C20orf195	61657587	0.107000	0.21998	0.023000	0.16930	0.000000	0.00434	2.668000	0.46816	1.182000	0.42928	-0.181000	0.13052	GAG		0.627	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		18	37	1	0	1.02788e-11	1	1.28326e-11	18	37				
GPR52	9293	broad.mit.edu	37	1	174417471	174417471	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:174417471T>C	ENST00000367685.2	+	1	260	c.222T>C	c.(220-222)taT>taC	p.Y74Y	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	74					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TACATCATTATACTACCAGCT	0.418																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(220-222)taT>taC		G protein-coupled receptor 52							273.0	249.0	257.0					1																	174417471		2203	4300	6503	SO:0001819	synonymous_variant	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417471T>C	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.222T>C	1.37:g.174417471T>C						RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	p.Y74Y	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN			1	260	+			74					O75654|Q4VBL6|Q6ISM0	Silent	SNP	ENST00000367685.2	37	c.222T>C	CCDS30941.1																																																																																				0.418	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		52	76	0	0	0	1	0	52	76				
CYP4F24P	388514	broad.mit.edu	37	19	15880411	15880411	+	lincRNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15880411G>A	ENST00000595525.1	+	0	529																											ATCTCTTTAGGATCGCGGTCC	0.557																																						ENST00000595525.1																			0																																																			0							g.chr19:15880411G>A																													19.37:g.15880411G>A						CYP4F24P_ENST00000587443.2_RNA								0	529	+									RNA	SNP	ENST00000595525.1	37																																																																																						0.557	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000472008.1			40	39	0	0	0	1	0	40	39				
ARHGAP33	115703	broad.mit.edu	37	19	36273380	36273380	+	Silent	SNP	G	G	A	rs138321382	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36273380G>A	ENST00000007510.4	+	13	1335	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	ARHGAP33_ENST00000378944.5_Silent_p.P261P|ARHGAP33_ENST00000314737.5_Silent_p.P397P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	397	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GAGAGCTTCCGAACCCTCTGC	0.607													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20355	0.0		0.001	False		,,,				2504	0.0					ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1189-1191)ccG>ccA		Rho GTPase activating protein 33			,	0,4406		0,0,2203	74.0	65.0	68.0		783,1191	-10.4	0.3	19	dbSNP_134	68	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ARHGAP33	NM_001172630.1,NM_052948.3	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	261/1124,397/1127	36273380	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36273380G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1191G>A	19.37:g.36273380G>A						ARHGAP33_ENST00000314737.5_Silent_p.P397P|ARHGAP33_ENST00000378944.5_Silent_p.P261P	p.P397P			O14559	RHG33_HUMAN			13	1335	+			397			Rho-GAP.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.1191G>A																																																																																					0.607	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		28	37	0	0	0	1	0	28	37				
PCDH20	64881	broad.mit.edu	37	13	61987509	61987509	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61987509A>C	ENST00000409186.1	-	5	2828	c.723T>G	c.(721-723)atT>atG	p.I241M	PCDH20_ENST00000409204.4_Missense_Mutation_p.I241M			Q8N6Y1	PCD20_HUMAN	protocadherin 20	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTACCCCATTAATGCCTACAT	0.532																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(721-723)atT>atG		protocadherin 20							106.0	92.0	97.0					13																	61987509		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987509A>C	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.723T>G	13.37:g.61987509A>C	ENSP00000386653:p.Ile241Met					PCDH20_ENST00000409204.4_Missense_Mutation_p.I241M	p.I241M			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	2828	-		Breast(118;0.195)|Prostate(109;0.229)	214			Cadherin 2.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.723T>G	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	A	6.581	0.475584	0.12521	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.51071	0.72;0.72	5.77	0.416	0.16416	.	0.623087	0.15772	N	0.245382	T	0.31888	0.0811	L	0.35487	1.065	0.21950	N	0.999457	B	0.27971	0.196	B	0.34452	0.183	T	0.19877	-1.0292	10	0.33940	T	0.23	.	2.8026	0.05419	0.3882:0.3798:0.1091:0.1229	.	241	A8K1K9	.	M	241	ENSP00000387250:I241M;ENSP00000386653:I241M	ENSP00000386653:I241M	I	-	3	3	PCDH20	60885510	0.028000	0.19301	0.849000	0.33467	0.979000	0.70002	-0.328000	0.07945	0.075000	0.16796	0.533000	0.62120	ATT		0.532	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		47	79	0	0	0	1	0	47	79				
DEAF1	10522	broad.mit.edu	37	11	691572	691572	+	Missense_Mutation	SNP	C	C	T	rs143376874		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:691572C>T	ENST00000382409.3	-	2	800	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	DEAF1_ENST00000338675.6_Missense_Mutation_p.V106M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	106	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCAGCCCCCACGTTGGCCACT	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18587	0.0		0.0	False		,,,				2504	0.0					ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(316-318)Gtg>Atg		DEAF1 transcription factor		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	90.0	74.0	80.0		316	1.6	1.0	11	dbSNP_134	80	0,8600		0,0,4300	no	missense	DEAF1	NM_021008.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	106/566	691572	1,13005	2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:691572C>T	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.316G>A	11.37:g.691572C>T	ENSP00000371846:p.Val106Met					DEAF1_ENST00000338675.6_Missense_Mutation_p.V106M	p.V106M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	2	800	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	106			Ala-rich.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.316G>A	CCDS31327.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.40	2.226658	0.39300	2.27E-4	0.0	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.75477	-0.94	3.55	1.63	0.23807	.	0.081845	0.49305	N	0.000156	T	0.59238	0.2179	L	0.29908	0.895	0.49687	D	0.999818	B	0.16166	0.016	B	0.12837	0.008	T	0.53443	-0.8438	10	0.87932	D	0	-17.9155	7.8829	0.29633	0.0:0.7793:0.0:0.2207	.	106	O75398	DEAF1_HUMAN	M	106;106;92;29	ENSP00000371846:V106M	ENSP00000341902:V106M	V	-	1	0	DEAF1	681572	1.000000	0.71417	0.985000	0.45067	0.812000	0.45895	4.590000	0.61013	0.263000	0.21812	0.462000	0.41574	GTG		0.567	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		12	25	0	0	0	1	0	12	25				
ZDBF2	57683	broad.mit.edu	37	2	207173411	207173411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207173411G>T	ENST00000374423.3	+	5	4545	c.4159G>T	c.(4159-4161)Gaa>Taa	p.E1387*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1387							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1387K(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCTGTCAAAGAAATAAATCT	0.353																																						ENST00000374423.3																			2	Substitution - Missense(2)	p.E1387K(2)	large_intestine(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4159-4161)Gaa>Taa		zinc finger, DBF-type containing 2							45.0	43.0	44.0					2																	207173411		1823	4087	5910	SO:0001587	stop_gained	57683						nucleic acid binding|zinc ion binding	g.chr2:207173411G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4159G>T	2.37:g.207173411G>T	ENSP00000363545:p.Glu1387*						p.E1387*	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	4545	+			1387					Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	c.4159G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	41	8.818012	0.98966	.	.	ENSG00000204186	ENST00000374423	.	.	.	3.76	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.1084	0.25376	0.1222:0.0:0.8778:0.0	.	.	.	.	X	1387	.	ENSP00000363545:E1387X	E	+	1	0	ZDBF2	206881656	0.663000	0.27448	0.013000	0.15412	0.222000	0.24845	1.236000	0.32683	1.156000	0.42514	0.650000	0.86243	GAA		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		14	20	1	0	6.31663e-08	1	7.35827e-08	14	20				
DGKG	1608	broad.mit.edu	37	3	186024714	186024714	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186024714G>A	ENST00000265022.3	-	3	659	c.120C>T	c.(118-120)agC>agT	p.S40S	DGKG_ENST00000544847.1_Silent_p.S40S|DGKG_ENST00000382164.4_Silent_p.S40S|DGKG_ENST00000344484.4_Silent_p.S40S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	40					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATTGTTTGAGGCTCCCACCCT	0.383																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(118-120)agC>agT		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						159.0	157.0	158.0					3																	186024714		2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186024714G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.120C>T	3.37:g.186024714G>A						DGKG_ENST00000382164.4_Silent_p.S40S|DGKG_ENST00000344484.4_Silent_p.S40S|DGKG_ENST00000544847.1_Silent_p.S40S	p.S40S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	3	659	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		40					B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.120C>T	CCDS3274.1																																																																																				0.383	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			21	28	0	0	0	1	0	21	28				
RC3H1	149041	broad.mit.edu	37	1	173910505	173910505	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173910505G>T	ENST00000367696.2	-	19	3500	c.3149C>A	c.(3148-3150)tCt>tAt	p.S1050Y	RC3H1_ENST00000367694.2_Missense_Mutation_p.S1041Y|RC3H1_ENST00000258349.4_Missense_Mutation_p.S1050Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1050					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CATGTCCAGAGAACACTGGTT	0.363																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(3148-3150)tCt>tAt		ring finger and CCCH-type domains 1							244.0	205.0	218.0					1																	173910505		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173910505G>T	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.3149C>A	1.37:g.173910505G>T	ENSP00000356669:p.Ser1050Tyr					RC3H1_ENST00000367694.2_Missense_Mutation_p.S1041Y|RC3H1_ENST00000258349.4_Missense_Mutation_p.S1050Y	p.S1050Y			Q5TC82	RC3H1_HUMAN			19	3500	-			1050					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.3149C>A	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648830	0.67358	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.51071	0.72;0.72;0.72	5.94	5.94	0.96194	.	0.314220	0.40469	N	0.001096	T	0.38214	0.1032	N	0.19112	0.55	0.45056	D	0.998074	P;P;P;P	0.44260	0.739;0.739;0.83;0.739	B;B;P;B	0.49012	0.394;0.394;0.598;0.394	T	0.37572	-0.9700	10	0.72032	D	0.01	-10.9101	20.3616	0.98856	0.0:0.0:1.0:0.0	.	1050;1041;1041;1050	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	Y	1050;1050;1041	ENSP00000356669:S1050Y;ENSP00000258349:S1050Y;ENSP00000356667:S1041Y	ENSP00000258349:S1050Y	S	-	2	0	RC3H1	172177128	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	6.116000	0.71571	2.818000	0.97014	0.637000	0.83480	TCT		0.363	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		21	45	1	0	7.45023e-12	1	9.31775e-12	21	45				
OR5F1	338674	broad.mit.edu	37	11	55761503	55761503	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55761503G>T	ENST00000278409.1	-	1	598	c.599C>A	c.(598-600)tCt>tAt	p.S200Y		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	200					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGCCAAAATAGAACTTATGCT	0.453																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(598-600)tCt>tAt		olfactory receptor, family 5, subfamily F, member 1							80.0	74.0	76.0					11																	55761503		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761503G>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.599C>A	11.37:g.55761503G>T	ENSP00000278409:p.Ser200Tyr						p.S200Y	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	598	-	Esophageal squamous(21;0.00448)		200					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.599C>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	6.953	0.545705	0.13312	.	.	ENSG00000149133	ENST00000278409	T	0.00054	8.8	3.03	0.936	0.19488	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.11154	0.105	0.09310	N	1	B	0.16802	0.019	B	0.24848	0.056	T	0.24728	-1.0152	9	0.72032	D	0.01	.	2.8826	0.05652	0.2597:0.0:0.5229:0.2174	.	200	O95221	OR5F1_HUMAN	Y	200	ENSP00000278409:S200Y	ENSP00000278409:S200Y	S	-	2	0	OR5F1	55518079	0.000000	0.05858	0.002000	0.10522	0.064000	0.16182	-1.323000	0.02692	-0.031000	0.13781	0.297000	0.19635	TCT		0.453	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		28	64	1	0	9.80776e-20	1	1.33792e-19	28	64				
TESK2	10420	broad.mit.edu	37	1	45812447	45812447	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45812447A>G	ENST00000372086.3	-	9	1197	c.797T>C	c.(796-798)tTc>tCc	p.F266S	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Intron|TESK2_ENST00000538496.1_Missense_Mutation_p.F183S|TESK2_ENST00000341771.6_Intron	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GTCCAGCCCGAAATTCTGTGG	0.502																																						ENST00000372086.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(796-798)tTc>tCc		testis-specific kinase 2							78.0	82.0	80.0					1																	45812447		1947	4153	6100	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45812447A>G	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.797T>C	1.37:g.45812447A>G	ENSP00000361158:p.Phe266Ser					TESK2_ENST00000538496.1_Missense_Mutation_p.F183S|TESK2_ENST00000341771.6_Intron|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Intron	p.F266S	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN			9	1197	-	Acute lymphoblastic leukemia(166;0.155)		266			Protein kinase.		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.797T>C	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800161	0.90538	.	.	ENSG00000070759	ENST00000372086;ENST00000372083;ENST00000538496	D;D	0.82344	-1.6;-1.6	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.88232	0.6381	L	0.46567	1.45	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	D	0.89017	0.3432	10	0.72032	D	0.01	-8.8357	16.6438	0.85155	1.0:0.0:0.0:0.0	.	266	Q96S53	TESK2_HUMAN	S	266;250;183	ENSP00000361158:F266S;ENSP00000441746:F183S	ENSP00000361155:F250S	F	-	2	0	TESK2	45585034	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.317000	0.96327	2.333000	0.79357	0.533000	0.62120	TTC		0.502	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		12	18	0	0	0	1	0	12	18				
SEMA3E	9723	broad.mit.edu	37	7	82996969	82996969	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82996969G>T	ENST00000307792.3	-	17	2728	c.2261C>A	c.(2260-2262)cCt>cAt	p.P754H	SEMA3E_ENST00000427262.1_Missense_Mutation_p.P694H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	754	Arg/Lys-rich (basic).				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTTTTCCTGAGGGTTGGCATA	0.473																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(2260-2262)cCt>cAt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							175.0	174.0	174.0					7																	82996969		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82996969G>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2261C>A	7.37:g.82996969G>T	ENSP00000303212:p.Pro754His					SEMA3E_ENST00000427262.1_Missense_Mutation_p.P694H	p.P754H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			17	2728	-		Medulloblastoma(109;0.109)	754			Arg/Lys-rich (basic).		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.2261C>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861111	0.51482	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.29917	1.61;1.55	5.64	5.64	0.86602	.	0.000000	0.43579	U	0.000543	T	0.37679	0.1012	M	0.72118	2.19	0.42436	D	0.992698	P	0.38767	0.646	B	0.35899	0.213	T	0.30880	-0.9963	10	0.46703	T	0.11	.	19.7061	0.96072	0.0:0.0:1.0:0.0	.	754	O15041	SEM3E_HUMAN	H	754;694;754	ENSP00000303212:P754H;ENSP00000405052:P694H	ENSP00000303212:P754H	P	-	2	0	SEMA3E	82834905	1.000000	0.71417	0.978000	0.43139	0.810000	0.45777	3.937000	0.56575	2.660000	0.90430	0.585000	0.79938	CCT		0.473	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		40	109	1	0	2.40579e-17	1	3.22781e-17	40	109				
RYR3	6263	broad.mit.edu	37	15	34123245	34123245	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34123245C>A	ENST00000389232.4	+	86	11486	c.11416C>A	c.(11416-11418)Ctg>Atg	p.L3806M	RYR3_ENST00000415757.3_Missense_Mutation_p.L3801M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3806					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCCAAAGCTCTGGCAGTCAC	0.378																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11416-11418)Ctg>Atg		ryanodine receptor 3							98.0	90.0	92.0					15																	34123245		1862	4096	5958	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34123245C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11416C>A	15.37:g.34123245C>A	ENSP00000373884:p.Leu3806Met					RYR3_ENST00000415757.3_Missense_Mutation_p.L3801M	p.L3806M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	86	11486	+		all_lung(180;7.18e-09)	3806					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11416C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441083	0.43326	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.69685	-0.42	5.65	3.65	0.41850	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	D	0.000008	T	0.58821	0.2149	N	0.12182	0.205	0.41142	D	0.985965	D;D	0.76494	0.999;0.999	D;D	0.79108	0.974;0.992	T	0.59648	-0.7415	10	0.30078	T	0.28	.	2.6218	0.04918	0.2315:0.5032:0.0:0.2653	.	3801;3806	Q15413-2;Q15413	.;RYR3_HUMAN	M	3806;3805;3802	ENSP00000373884:L3806M	ENSP00000354735:L3802M	L	+	1	2	RYR3	31910537	0.493000	0.26035	1.000000	0.80357	0.993000	0.82548	0.467000	0.22035	1.620000	0.50308	0.655000	0.94253	CTG		0.378	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	24	1	0	1.58986e-06	1	1.78832e-06	9	24				
POP1	10940	broad.mit.edu	37	8	99142362	99142362	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99142362G>A	ENST00000401707.2	+	5	724	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	POP1_ENST00000349693.3_Missense_Mutation_p.V215I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	215					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTTTCATATGGTCAAGAAGTG	0.512																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(643-645)Gtc>Atc		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							78.0	76.0	77.0					8																	99142362		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99142362G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.643G>A	8.37:g.99142362G>A	ENSP00000385787:p.Val215Ile					POP1_ENST00000349693.3_Missense_Mutation_p.V215I	p.V215I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		5	724	+	Breast(36;1.78e-06)		215					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.643G>A	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108026	0.56291	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.41400	1.0;1.0	5.81	4.04	0.47022	Ribonuclease P/MRP, subunit POP1 (1);	0.346744	0.25981	N	0.027073	T	0.23171	0.0560	N	0.11789	0.175	0.44918	D	0.997939	B	0.06786	0.001	B	0.15484	0.013	T	0.04481	-1.0948	9	.	.	.	-13.0371	10.3941	0.44190	0.1507:0.0:0.8493:0.0	.	215	Q99575	POP1_HUMAN	I	215	ENSP00000385787:V215I;ENSP00000339529:V215I	.	V	+	1	0	POP1	99211538	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.792000	0.55476	0.816000	0.34421	0.591000	0.81541	GTC		0.512	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		31	56	0	0	0	1	0	31	56				
HHIPL2	79802	broad.mit.edu	37	1	222696106	222696106	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:222696106G>T	ENST00000343410.6	-	9	2070	c.2012C>A	c.(2011-2013)tCt>tAt	p.S671Y	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	671					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCTTGTAGGAGAAGCCAGCTT	0.532																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2011-2013)tCt>tAt		HHIP-like 2							144.0	155.0	151.0					1																	222696106		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222696106G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.2012C>A	1.37:g.222696106G>T	ENSP00000342118:p.Ser671Tyr					HHIPL2_ENST00000473144.1_5'UTR	p.S671Y	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	9	2070	-			671					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.2012C>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073395	0.36566	.	.	ENSG00000143512	ENST00000343410	T	0.15372	2.43	5.23	5.23	0.72850	.	0.590661	0.14962	N	0.288284	T	0.20820	0.0501	M	0.65975	2.015	0.28390	N	0.919115	P	0.37864	0.61	B	0.32864	0.154	T	0.13361	-1.0512	10	0.56958	D	0.05	-8.0243	14.3191	0.66473	0.0:0.0:1.0:0.0	.	671	Q6UWX4	HIPL2_HUMAN	Y	671	ENSP00000342118:S671Y	ENSP00000342118:S671Y	S	-	2	0	HHIPL2	220762729	0.591000	0.26824	0.299000	0.25016	0.026000	0.11368	2.984000	0.49353	2.413000	0.81919	0.655000	0.94253	TCT		0.532	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		88	165	1	0	3.49128e-24	1	4.89562e-24	88	165				
SCN4A	6329	broad.mit.edu	37	17	62021173	62021173	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62021173T>G	ENST00000435607.1	-	22	4026	c.3950A>C	c.(3949-3951)aAg>aCg	p.K1317T	SCN4A_ENST00000578147.1_Missense_Mutation_p.K1317T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1317					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATAGTATTTCTTCTGTTCCTC	0.547																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3949-3951)aAg>aCg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						94.0	96.0	95.0					17																	62021173		2152	4291	6443	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62021173T>G	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3950A>C	17.37:g.62021173T>G	ENSP00000396320:p.Lys1317Thr					SCN4A_ENST00000435607.1_Missense_Mutation_p.K1317T	p.K1317T			P35499	SCN4A_HUMAN			22	4026	-			1317					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3950A>C	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022567	0.75275	.	.	ENSG00000007314	ENST00000435607	D	0.96774	-4.12	3.38	3.38	0.38709	.	0.000000	0.85682	D	0.000000	D	0.98695	0.9562	H	0.98351	4.21	0.53005	D	0.999965	D	0.89917	1.0	D	0.71184	0.972	D	0.98655	1.0681	10	0.87932	D	0	.	11.4387	0.50083	0.0:0.0:0.0:1.0	.	1317	P35499	SCN4A_HUMAN	T	1317	ENSP00000396320:K1317T	ENSP00000396320:K1317T	K	-	2	0	SCN4A	59374905	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.817000	0.86213	1.552000	0.49463	0.368000	0.22195	AAG		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		12	25	0	0	0	1	0	12	25				
BNC1	646	broad.mit.edu	37	15	83926268	83926268	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:83926268G>A	ENST00000345382.2	-	5	2996	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R964C	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	971					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTTCGACTGCGAACAGACGAA	0.507																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2911-2913)Cgc>Tgc		basonuclin 1							158.0	152.0	154.0					15																	83926268		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926268G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2911C>T	15.37:g.83926268G>A	ENSP00000307041:p.Arg971Cys					BNC1_ENST00000569704.1_Missense_Mutation_p.R964C|RP11-382A20.4_ENST00000565495.1_RNA	p.R971C	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			5	2996	-			971					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2911C>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775166	0.90108	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.55234	0.53	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.75855	-0.3170	10	0.87932	D	0	-34.6311	20.3398	0.98759	0.0:0.0:1.0:0.0	.	964;971	F5GY04;Q01954	.;BNC1_HUMAN	C	971;964	ENSP00000307041:R971C	ENSP00000307041:R971C	R	-	1	0	BNC1	81717272	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	6.482000	0.73613	2.811000	0.96726	0.557000	0.71058	CGC		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		47	88	0	0	0	1	0	47	88				
ITGB3BP	23421	broad.mit.edu	37	1	63955791	63955791	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63955791A>G	ENST00000271002.10	-	3	228	c.147T>C	c.(145-147)agT>agC	p.S49S	ITGB3BP_ENST00000371092.3_Silent_p.S88S|ITGB3BP_ENST00000283568.8_Silent_p.S49S	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	49	DD1.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						GCTCTTCAGAACTTGTGGGAG	0.328																																						ENST00000371092.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(262-264)agT>agC		integrin beta 3 binding protein (beta3-endonexin)							115.0	112.0	113.0					1																	63955791		2203	4300	6503	SO:0001819	synonymous_variant	23421				apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	g.chr1:63955791A>G	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.147T>C	1.37:g.63955791A>G						ITGB3BP_ENST00000271002.10_Silent_p.S49S|ITGB3BP_ENST00000283568.8_Silent_p.S49S	p.S88S	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN			4	324	-			49					B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Silent	SNP	ENST00000271002.10	37	c.264T>C	CCDS30736.1																																																																																				0.328	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288		7	47	0	0	0	1	0	7	47				
ARSE	415	broad.mit.edu	37	X	2861177	2861177	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2861177G>A	ENST00000381134.3	-	8	1121	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	ARSE_ENST00000540563.1_Missense_Mutation_p.S307L|ARSE_ENST00000545496.1_Missense_Mutation_p.S377L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	352					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGTGATCCGACGTAAAATA	0.473																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1129-1131)tCg>tTg		arylsulfatase E (chondrodysplasia punctata 1)							83.0	76.0	79.0					X																	2861177		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2861177G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1055C>T	X.37:g.2861177G>A	ENSP00000370526:p.Ser352Leu					ARSE_ENST00000381134.3_Missense_Mutation_p.S352L|ARSE_ENST00000540563.1_Missense_Mutation_p.S307L	p.S377L			P51690	ARSE_HUMAN			9	1421	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	352					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.1130C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008822	0.75046	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.96619	-4.07;-4.07;-4.07	3.66	3.66	0.41972	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.99855	4.85	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.986;0.992	D	0.98419	1.0576	10	0.87932	D	0	.	14.0326	0.64624	0.0:0.0:1.0:0.0	.	307;377;352	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	L	307;377;352	ENSP00000438198:S307L;ENSP00000441417:S377L;ENSP00000370526:S352L	ENSP00000370526:S352L	S	-	2	0	ARSE	2871177	1.000000	0.71417	0.012000	0.15200	0.002000	0.02628	7.542000	0.82095	1.608000	0.50180	0.600000	0.82982	TCG		0.473	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		11	24	0	0	0	1	0	11	24				
ZNF81	347344	broad.mit.edu	37	X	47775478	47775478	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47775478C>A	ENST00000376954.1	+	6	1801	c.1433C>A	c.(1432-1434)tCt>tAt	p.S478Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.S478Y			P51508	ZNF81_HUMAN	zinc finger protein 81	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TGTGGGAAATCTTTCCCTTCT	0.438																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(1432-1434)tCt>tAt		zinc finger protein 81							45.0	43.0	44.0					X																	47775478		2203	4299	6502	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775478C>A	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1433C>A	X.37:g.47775478C>A	ENSP00000366153:p.Ser478Tyr					ZNF81_ENST00000338637.7_Missense_Mutation_p.S478Y	p.S478Y			P51508	ZNF81_HUMAN			6	1801	+		all_lung(315;0.0973)	478					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1433C>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158807	0.38119	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.51574	0.7;0.7	4.06	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42821	D	0.000647	T	0.59636	0.2208	L	0.60957	1.885	0.20307	N	0.999917	D	0.76494	0.999	D	0.68621	0.959	T	0.50725	-0.8794	10	0.87932	D	0	.	8.943	0.35742	0.0:0.778:0.222:0.0	.	478	P51508	ZNF81_HUMAN	Y	478	ENSP00000366153:S478Y;ENSP00000341151:S478Y	ENSP00000341151:S478Y	S	+	2	0	ZNF81	47660422	0.000000	0.05858	0.995000	0.50966	0.995000	0.86356	-0.252000	0.08806	2.279000	0.76181	0.600000	0.82982	TCT		0.438	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		22	45	1	0	1.87028e-06	1	2.10206e-06	22	45				
TANC2	26115	broad.mit.edu	37	17	61497761	61497761	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61497761C>A	ENST00000424789.2	+	25	4422	c.4418C>A	c.(4417-4419)tCt>tAt	p.S1473Y	TANC2_ENST00000389520.4_Missense_Mutation_p.S1483Y|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1473					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCCAGTAGTTCTGTAGGCTCT	0.552																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(4417-4419)tCt>tAt		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							111.0	109.0	110.0					17																	61497761		2015	4188	6203	SO:0001583	missense	26115						binding	g.chr17:61497761C>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4418C>A	17.37:g.61497761C>A	ENSP00000387593:p.Ser1473Tyr					RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1483Y	p.S1473Y	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	4422	+			1473					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.4418C>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481516	0.63849	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.71579	-0.58;-0.58	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	N	0.24115	0.695	0.80722	D	1	P	0.50943	0.94	P	0.44860	0.462	T	0.69932	-0.5011	10	0.62326	D	0.03	.	18.9244	0.92538	0.0:1.0:0.0:0.0	.	1473	Q9HCD6	TANC2_HUMAN	Y	1483;1473	ENSP00000374171:S1483Y;ENSP00000387593:S1473Y	ENSP00000374171:S1483Y	S	+	2	0	TANC2	58851493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.487000	0.83934	0.561000	0.74099	TCT		0.552	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			33	53	1	0	4.3181e-19	1	5.86915e-19	33	53				
ZKSCAN8	7745	broad.mit.edu	37	6	28120090	28120090	+	Missense_Mutation	SNP	C	C	T	rs373001897		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28120090C>T	ENST00000330236.6	+	5	887	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.L235F	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	235	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGAGGAGTGGCTTCTTGATCC	0.448																																						ENST00000330236.6																			0											c.(703-705)Ctt>Ttt		zinc finger with KRAB and SCAN domains 8							141.0	141.0	141.0					6																	28120090		2203	4300	6503	SO:0001583	missense	0							g.chr6:28120090C>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.703C>T	6.37:g.28120090C>T	ENSP00000332750:p.Leu235Phe					ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.L235F	p.L235F	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					5	887	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.703C>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813594	0.16537	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.02177	4.41;4.41	5.32	4.43	0.53597	Krueppel-associated box (4);	0.000000	0.51477	D	0.000098	T	0.01835	0.0058	L	0.49778	1.585	0.80722	D	1	P	0.38250	0.624	B	0.41860	0.368	T	0.55068	-0.8198	10	0.56958	D	0.05	.	12.6571	0.56793	0.3001:0.6999:0.0:0.0	.	235	Q15776	ZN192_HUMAN	F	235	ENSP00000332750:L235F;ENSP00000402948:L235F	ENSP00000332750:L235F	L	+	1	0	ZNF192	28228069	0.032000	0.19561	1.000000	0.80357	0.995000	0.86356	0.114000	0.15520	1.525000	0.49052	0.563000	0.77884	CTT		0.448	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			31	62	0	0	0	1	0	31	62				
APBA2	321	broad.mit.edu	37	15	29406121	29406121	+	Missense_Mutation	SNP	G	G	A	rs144849809		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:29406121G>A	ENST00000558402.1	+	15	2679	c.2080G>A	c.(2080-2082)Gtc>Atc	p.V694I	APBA2_ENST00000561069.1_Missense_Mutation_p.V694I|APBA2_ENST00000558259.1_Missense_Mutation_p.V694I|APBA2_ENST00000558330.1_Missense_Mutation_p.V682I|APBA2_ENST00000411764.1_Missense_Mutation_p.V682I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	694	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.V694I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCGAGGGGGCGTCCGTGTGGG	0.627																																						ENST00000558402.1																			1	Substitution - Missense(1)	p.V694I(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(2080-2082)Gtc>Atc		amyloid beta (A4) precursor protein-binding, family A, member 2		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	98.0	81.0	87.0		2044,2080	4.6	0.9	15	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	682/738,694/750	29406121	1,13005	2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29406121G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2080G>A	15.37:g.29406121G>A	ENSP00000453293:p.Val694Ile					APBA2_ENST00000558259.1_Missense_Mutation_p.V694I|APBA2_ENST00000558330.1_Missense_Mutation_p.V682I|APBA2_ENST00000561069.1_Missense_Mutation_p.V694I|APBA2_ENST00000411764.1_Missense_Mutation_p.V682I	p.V694I			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	15	2679	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	694			PDZ 2.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.2080G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461429	0.84317	0.0	1.16E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.17528	2.27	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);	0.091157	0.42964	D	0.000628	T	0.20292	0.0488	N	0.10760	0.04	0.80722	D	1	D;P	0.69078	0.997;0.625	P;B	0.62649	0.905;0.242	T	0.24012	-1.0172	10	0.33940	T	0.23	.	16.319	0.82939	0.0:0.0:1.0:0.0	.	682;694	E9PGI4;Q99767	.;APBA2_HUMAN	I	682;694	ENSP00000409312:V682I	ENSP00000219865:V694I	V	+	1	0	APBA2	27193413	1.000000	0.71417	0.947000	0.38551	0.854000	0.48673	7.777000	0.85628	2.068000	0.61886	0.462000	0.41574	GTC		0.627	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		20	47	0	0	0	1	0	20	47				
DDX24	57062	broad.mit.edu	37	14	94545825	94545825	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94545825C>A	ENST00000330836.5	-	2	395	c.264G>T	c.(262-264)gaG>gaT	p.E88D	IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.E45D|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	88	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		ACTTTCCCTCCTCCTCCTCCT	0.438																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(262-264)gaG>gaT		DEAD (Asp-Glu-Ala-Asp) box helicase 24							168.0	163.0	165.0					14																	94545825		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545825C>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.264G>T	14.37:g.94545825C>A	ENSP00000328690:p.Glu88Asp					DDX24_ENST00000555054.1_Missense_Mutation_p.E45D|DDX24_ENST00000544005.1_Intron	p.E88D	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	395	-		all_cancers(154;0.12)	88			Poly-Glu.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.264G>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	7.262	0.605451	0.14002	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.03635	3.86;3.88	0.631	-1.26	0.09376	.	0.284602	0.43919	D	0.000511	T	0.03011	0.0089	L	0.52573	1.65	0.09310	N	1	P	0.43231	0.801	B	0.38500	0.275	T	0.45934	-0.9227	9	0.21540	T	0.41	-7.1193	.	.	.	.	88	Q9GZR7	DDX24_HUMAN	D	88;88;45;45	ENSP00000328690:E88D;ENSP00000452145:E45D	ENSP00000328690:E88D	E	-	3	2	DDX24	93615578	0.955000	0.32602	0.679000	0.29978	0.945000	0.59286	0.116000	0.15561	-0.396000	0.07703	0.121000	0.15741	GAG		0.438	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		7	94	1	0	0.248553	1	0.24944	7	94				
ACTRT1	139741	broad.mit.edu	37	X	127185898	127185898	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:127185898C>T	ENST00000371124.3	-	1	484	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	96						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TTACTCCAAGCTCCCGCTCAA	0.473																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(286-288)gaG>gaA		actin-related protein T1							225.0	214.0	218.0					X																	127185898		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185898C>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.288G>A	X.37:g.127185898C>T							p.E96E	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	484	-			96					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.288G>A	CCDS14611.1																																																																																				0.473	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		127	218	0	0	0	1	0	127	218				
LACRT	90070	broad.mit.edu	37	12	55026990	55026990	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55026990G>A	ENST00000257867.4	-	2	139	c.86C>T	c.(85-87)gCt>gTt	p.A29V	LACRT_ENST00000547511.1_Missense_Mutation_p.A29V	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	29					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						GGCAGGATCAGCACCCGTCGA	0.597																																						ENST00000257867.4																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						c.(85-87)gCt>gTt		lacritin							173.0	157.0	163.0					12																	55026990		2203	4300	6503	SO:0001583	missense	90070				calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	g.chr12:55026990G>A	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.86C>T	12.37:g.55026990G>A	ENSP00000257867:p.Ala29Val					LACRT_ENST00000547511.1_Missense_Mutation_p.A29V	p.A29V	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN			2	139	-			29						Missense_Mutation	SNP	ENST00000257867.4	37	c.86C>T	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	G	8.166	0.790541	0.16258	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	1.7	-2.25	0.06888	.	.	.	.	.	T	0.11750	0.0286	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25187	-1.0139	7	.	.	.	.	2.0805	0.03634	0.3612:0.0:0.3871:0.2516	.	29	Q9GZZ8	LACRT_HUMAN	V	29	.	.	A	-	2	0	LACRT	53313257	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.600000	0.05693	-0.643000	0.05473	-1.008000	0.02478	GCT		0.597	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277		64	108	0	0	0	1	0	64	108				
ZNF160	90338	broad.mit.edu	37	19	53578315	53578315	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53578315G>A	ENST00000429604.1	-	5	552	c.137C>T	c.(136-138)tCt>tTt	p.S46F	ZNF160_ENST00000599729.1_5'Flank|ZNF160_ENST00000601421.1_Missense_Mutation_p.S10F|ZNF160_ENST00000599056.1_Missense_Mutation_p.S46F|ZNF160_ENST00000355147.5_Missense_Mutation_p.S46F|ZNF160_ENST00000418871.1_Missense_Mutation_p.S46F	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CTCACCCAGAGAAACAAGGTT	0.483																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(28-30)tCt>tTt		zinc finger protein 160							140.0	124.0	130.0					19																	53578315		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53578315G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.137C>T	19.37:g.53578315G>A	ENSP00000406201:p.Ser46Phe					ZNF160_ENST00000599056.1_Missense_Mutation_p.S46F|ZNF160_ENST00000429604.1_Missense_Mutation_p.S46F|ZNF160_ENST00000355147.5_Missense_Mutation_p.S46F|ZNF160_ENST00000418871.1_Missense_Mutation_p.S46F	p.S10F			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	1	905	-			46			KRAB.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.29C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	9.766	1.171417	0.21621	.	.	ENSG00000170949	ENST00000429604;ENST00000418871;ENST00000355147	T;T;T	0.03181	4.02;4.02;4.02	2.46	1.39	0.22231	Krueppel-associated box (4);	.	.	.	.	T	0.09468	0.0233	M	0.62266	1.93	0.09310	N	1	P;D	0.69078	0.84;0.997	P;D	0.83275	0.524;0.996	T	0.09292	-1.0681	9	0.02654	T	1	.	6.6194	0.22794	0.1505:0.0:0.8495:0.0	.	46;46	Q9BVY9;Q9HCG1	.;ZN160_HUMAN	F	46	ENSP00000406201:S46F;ENSP00000409597:S46F;ENSP00000347273:S46F	ENSP00000347273:S46F	S	-	2	0	ZNF160	58270127	0.009000	0.17119	0.039000	0.18376	0.926000	0.56050	1.297000	0.33400	0.353000	0.24079	0.462000	0.41574	TCT		0.483	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		42	72	0	0	0	1	0	42	72				
FHOD3	80206	broad.mit.edu	37	18	34298177	34298177	+	Silent	SNP	G	G	A	rs369638305		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:34298177G>A	ENST00000359247.4	+	15	2340	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P	FHOD3_ENST00000257209.4_Silent_p.P797P|FHOD3_ENST00000445677.1_Silent_p.P759P|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Silent_p.P972P	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	780					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGTGCAGCCGAAGACAGAGT	0.537																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(2389-2391)ccG>ccA		formin homology 2 domain containing 3		G		1,4405	2.1+/-5.4	0,1,2202	80.0	81.0	80.0		2391	-9.3	0.0	18		80	0,8600		0,0,4300	no	coding-synonymous	FHOD3	NM_025135.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		797/1440	34298177	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34298177G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2340G>A	18.37:g.34298177G>A						FHOD3_ENST00000590592.1_Silent_p.P972P|FHOD3_ENST00000359247.4_Silent_p.P780P|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Silent_p.P759P	p.P797P	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			16	2513	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	780					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37	c.2391G>A																																																																																					0.537	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		30	52	0	0	0	1	0	30	52				
WASL	8976	broad.mit.edu	37	7	123332489	123332489	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123332489T>G	ENST00000223023.4	-	9	1591	c.1259A>C	c.(1258-1260)aAa>aCa	p.K420T		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	420	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCACTTTTTTTAGCTGAGC	0.493																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1258-1260)aAa>aCa		Wiskott-Aldrich syndrome-like							77.0	73.0	75.0					7																	123332489		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332489T>G	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1259A>C	7.37:g.123332489T>G	ENSP00000223023:p.Lys420Thr						p.K420T	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1591	-			420			WH2 1.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.1259A>C	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.017786	0.54576	.	.	ENSG00000106299	ENST00000223023	T	0.70282	-0.47	5.79	5.79	0.91817	Wiscott-Aldrich syndrome, C-terminal (1);Actin-binding WH2 (3);	0.049144	0.85682	D	0.000000	D	0.82623	0.5077	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83994	0.0339	10	0.56958	D	0.05	-19.8984	10.4624	0.44587	0.0:0.0725:0.0:0.9275	.	420	O00401	WASL_HUMAN	T	420	ENSP00000223023:K420T	ENSP00000223023:K420T	K	-	2	0	WASL	123119725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.923000	0.56469	2.201000	0.70794	0.528000	0.53228	AAA		0.493	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		24	37	0	0	0	1	0	24	37				
LIM2	3982	broad.mit.edu	37	19	51883766	51883766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51883766G>T	ENST00000596399.1	-	4	500	c.453C>A	c.(451-453)ttC>ttA	p.F151L	LIM2_ENST00000221973.3_Missense_Mutation_p.F193L	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	151					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TACCTGCGAAGAACGTCATGA	0.612																																						ENST00000221973.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(577-579)ttC>ttA		lens intrinsic membrane protein 2, 19kDa							161.0	162.0	162.0					19																	51883766		2203	4300	6503	SO:0001583	missense	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51883766G>T		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.453C>A	19.37:g.51883766G>T	ENSP00000472090:p.Phe151Leu					LIM2_ENST00000596399.1_Missense_Mutation_p.F151L	p.F193L	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	4	621	-		all_neural(266;0.0529)	151					Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	37	c.579C>A	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602536	0.66445	.	.	ENSG00000105370	ENST00000221973	D	0.88201	-2.35	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.91620	0.7352	L	0.45285	1.41	0.80722	D	1	P;D	0.61697	0.649;0.99	B;D	0.72982	0.216;0.979	D	0.91510	0.5226	10	0.45353	T	0.12	-13.0558	15.2238	0.73333	0.0:0.0:1.0:0.0	.	151;193	P55344;P55344-2	LMIP_HUMAN;.	L	193	ENSP00000221973:F193L	ENSP00000221973:F193L	F	-	3	2	LIM2	56575578	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.867000	0.56047	2.178000	0.69098	0.655000	0.94253	TTC		0.612	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		9	309	1	0	3.09899e-07	1	3.54467e-07	9	309				
KLHL20	27252	broad.mit.edu	37	1	173726179	173726179	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173726179A>C	ENST00000209884.4	+	7	1168	c.1032A>C	c.(1030-1032)gaA>gaC	p.E344D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E155D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	344					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AGACCAATGAATGGAGAATGG	0.458																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1030-1032)gaA>gaC		kelch-like family member 20							255.0	222.0	233.0					1																	173726179		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173726179A>C	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1032A>C	1.37:g.173726179A>C	ENSP00000209884:p.Glu344Asp					KLHL20_ENST00000546011.1_Missense_Mutation_p.E155D	p.E344D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			7	1168	+			344					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1032A>C	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.806206	0.31961	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.79454	-1.27;-1.27	5.43	0.399	0.16325	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.63169	1.94	0.58432	D	0.999991	B;B	0.16802	0.019;0.005	B;B	0.19666	0.026;0.022	T	0.50717	-0.8795	10	0.32370	T	0.25	.	8.8921	0.35441	0.354:0.0:0.646:0.0	.	155;344	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	D	155;344	ENSP00000443121:E155D;ENSP00000209884:E344D	ENSP00000209884:E344D	E	+	3	2	KLHL20	171992802	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.640000	0.46579	0.068000	0.16574	0.528000	0.53228	GAA		0.458	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		7	101	0	0	0	1	0	7	101				
DYRK2	8445	broad.mit.edu	37	12	68051084	68051084	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:68051084C>T	ENST00000344096.3	+	3	810	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	DYRK2_ENST00000393555.3_Missense_Mutation_p.R60W|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	133					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CATTCATAGACGGCAGGGGAG	0.542																																						ENST00000344096.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(397-399)Cgg>Tgg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2							65.0	57.0	60.0					12																	68051084		2203	4300	6503	SO:0001583	missense	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051084C>T	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.397C>T	12.37:g.68051084C>T	ENSP00000342105:p.Arg133Trp					DYRK2_ENST00000393555.3_Missense_Mutation_p.R60W	p.R133W	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	810	+			133					B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.397C>T	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257594	0.59321	.	.	ENSG00000127334	ENST00000543747;ENST00000344096;ENST00000393555;ENST00000319833;ENST00000542503	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.09	4.2	0.49525	.	0.238192	0.43579	D	0.000543	T	0.45935	0.1367	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.59546	0.859	T	0.31558	-0.9939	9	.	.	.	.	13.0321	0.58847	0.2934:0.7066:0.0:0.0	.	133	Q92630	DYRK2_HUMAN	W	60;133;60;60;111	ENSP00000440839:R60W;ENSP00000342105:R133W;ENSP00000377186:R60W;ENSP00000324733:R60W;ENSP00000443314:R111W	.	R	+	1	2	DYRK2	66337351	0.999000	0.42202	0.782000	0.31804	0.939000	0.58152	3.869000	0.56062	1.284000	0.44531	0.313000	0.20887	CGG		0.542	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			23	37	0	0	0	1	0	23	37				
PTPRM	5797	broad.mit.edu	37	18	7955218	7955218	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:7955218T>C	ENST00000332175.8	+	7	1975	c.938T>C	c.(937-939)aTt>aCt	p.I313T	PTPRM_ENST00000444013.1_Missense_Mutation_p.I100T|PTPRM_ENST00000580170.1_Missense_Mutation_p.I313T|PTPRM_ENST00000400053.4_Missense_Mutation_p.I251T|PTPRM_ENST00000400060.4_Missense_Mutation_p.I313T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	313	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GATGGGCCCATTGTGGCCCGA	0.577																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(937-939)aTt>aCt		protein tyrosine phosphatase, receptor type, M							53.0	51.0	52.0					18																	7955218		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7955218T>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.938T>C	18.37:g.7955218T>C	ENSP00000331418:p.Ile313Thr					PTPRM_ENST00000400053.4_Missense_Mutation_p.I251T|PTPRM_ENST00000400060.4_Missense_Mutation_p.I313T|PTPRM_ENST00000444013.1_Missense_Mutation_p.I100T|PTPRM_ENST00000580170.1_Missense_Mutation_p.I313T	p.I313T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			7	1975	+		Colorectal(10;0.234)	313			Fibronectin type-III 1.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.938T>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533577	0.45073	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;0.988;0.988	D;P;P	0.81914	0.995;0.907;0.907	D	0.83870	0.0273	10	0.87932	D	0	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	100;313;313	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	313;313;251;100	ENSP00000331418:I313T;ENSP00000382933:I313T;ENSP00000382927:I251T;ENSP00000387608:I100T	ENSP00000331418:I313T	I	+	2	0	PTPRM	7945218	1.000000	0.71417	0.886000	0.34754	0.900000	0.52787	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	ATT		0.577	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			5	53	0	0	0	1	0	5	53				
PDSS1	23590	broad.mit.edu	37	10	27012969	27012969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27012969G>T	ENST00000376215.5	+	8	801	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	PDSS1_ENST00000376203.5_Nonsense_Mutation_p.E250*	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	250					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CGGGTCAAAAGAAAATGAGAA	0.413																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(748-750)Gaa>Taa		prenyl (decaprenyl) diphosphate synthase, subunit 1							89.0	83.0	85.0					10																	27012969		2203	4300	6503	SO:0001587	stop_gained	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:27012969G>T	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.748G>T	10.37:g.27012969G>T	ENSP00000365388:p.Glu250*					PDSS1_ENST00000376203.5_Nonsense_Mutation_p.E250*	p.E250*	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			8	801	+			250					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Nonsense_Mutation	SNP	ENST00000376215.5	37	c.748G>T	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494884	0.85069	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-20.3358	19.4237	0.94732	0.0:0.0:1.0:0.0	.	.	.	.	X	250;250;211	.	ENSP00000365376:E250X	E	+	1	0	PDSS1	27052975	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.813000	0.99286	2.652000	0.90054	0.655000	0.94253	GAA		0.413	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			19	47	1	0	2.37509e-13	1	3.04217e-13	19	47				
FILIP1	27145	broad.mit.edu	37	6	76023417	76023417	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:76023417G>A	ENST00000237172.7	-	5	2461	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.R711W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	711								p.R711W(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCCAACCGAAATCTGTGT	0.413																																						ENST00000393004.2																			1	Substitution - Missense(1)	p.R711W(1)	lung(1)	breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2131-2133)Cgg>Tgg		filamin A interacting protein 1							169.0	175.0	173.0					6																	76023417		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023417G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2131C>T	6.37:g.76023417G>A	ENSP00000237172:p.Arg711Trp					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W|FILIP1_ENST00000237172.7_Missense_Mutation_p.R711W	p.R711W			Q7Z7B0	FLIP1_HUMAN			5	2352	-			711					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2131C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380895	0.42207	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.22945	1.93;1.94;1.94	5.45	4.58	0.56647	.	0.185091	0.48767	D	0.000173	T	0.23572	0.0570	N	0.22421	0.69	0.26962	N	0.965797	D;D;D	0.89917	0.999;0.999;1.0	P;D;D	0.70227	0.874;0.929;0.968	T	0.16424	-1.0403	10	0.87932	D	0	-16.1962	15.602	0.76631	0.0:0.0:0.8612:0.1388	.	711;711;711	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	711;711;612	ENSP00000376728:R711W;ENSP00000237172:R711W;ENSP00000359037:R612W	ENSP00000237172:R711W	R	-	1	2	FILIP1	76080137	1.000000	0.71417	0.719000	0.30619	0.988000	0.76386	3.391000	0.52530	1.290000	0.44636	0.563000	0.77884	CGG		0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		28	123	0	0	0	1	0	28	123				
ALAS2	212	broad.mit.edu	37	X	55042056	55042056	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55042056G>A	ENST00000330807.5	-	8	1260	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C|ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	375			R -> C (in XLSA; significantly reduced activity). {ECO:0000269|PubMed:21309041}.		cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.R375C(1)|p.R362C(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATTCCATCACGCTCCCCAATC	0.522																																						ENST00000330807.5																			2	Substitution - Missense(2)	p.R375C(1)|p.R362C(1)	kidney(2)	central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1123-1125)Cgt>Tgt		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						95.0	83.0	87.0					X																	55042056		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55042056G>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1123C>T	X.37:g.55042056G>A	ENSP00000332369:p.Arg375Cys					ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C|ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000498636.1_5'UTR	p.R375C	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			8	1260	-			375					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1123C>T	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812052	0.70797	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.91577	-2.87;-2.87;-2.87	5.75	5.75	0.90469	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.97583	1.0112	10	0.87932	D	0	-8.2479	12.8942	0.58089	0.0:0.0:0.8374:0.1625	.	338;362;375	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	C	375;362;338	ENSP00000332369:R375C;ENSP00000379501:R362C;ENSP00000337131:R338C	ENSP00000332369:R375C	R	-	1	0	ALAS2	55058781	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.161000	0.64935	2.576000	0.86940	0.594000	0.82650	CGT		0.522	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		34	41	0	0	0	1	0	34	41				
RIF1	55183	broad.mit.edu	37	2	152325056	152325056	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152325056G>T	ENST00000243326.5	+	31	7299	c.6816G>T	c.(6814-6816)aaG>aaT	p.K2272N	RIF1_ENST00000428287.2_Intron|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000444746.2_Missense_Mutation_p.K2272N|RIF1_ENST00000430328.2_Intron			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAGCTCAAAGAAGTGTTTAG	0.358																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6814-6816)aaG>aaT		RAP1 interacting factor homolog (yeast)							156.0	163.0	160.0					2																	152325056		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152325056G>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6816G>T	2.37:g.152325056G>T	ENSP00000243326:p.Lys2272Asn					RIF1_ENST00000428287.2_Intron|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000444746.2_Missense_Mutation_p.K2272N|RIF1_ENST00000430328.2_Intron	p.K2272N			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	31	7299	+			2272			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6816G>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023129	0.75275	.	.	ENSG00000080345	ENST00000444746;ENST00000243326	T;T	0.14516	2.5;2.5	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.03750	-1.1007	10	0.87932	D	0	-15.1489	19.6454	0.95775	0.0:0.0:1.0:0.0	.	2272	Q5UIP0	RIF1_HUMAN	N	2272	ENSP00000390181:K2272N;ENSP00000243326:K2272N	ENSP00000243326:K2272N	K	+	3	2	RIF1	152033302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.552000	0.60747	2.736000	0.93811	0.591000	0.81541	AAG		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			7	53	1	0	0.000157383	1	0.000169016	7	53				
GULP1	51454	broad.mit.edu	37	2	189452618	189452618	+	Missense_Mutation	SNP	T	T	G	rs367867124		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:189452618T>G	ENST00000409580.1	+	12	1499	c.785T>G	c.(784-786)tTt>tGt	p.F262C	GULP1_ENST00000409609.1_Missense_Mutation_p.F262C|GULP1_ENST00000409830.1_Missense_Mutation_p.F262C|GULP1_ENST00000409805.1_Missense_Mutation_p.F159C|GULP1_ENST00000409843.1_Missense_Mutation_p.F262C|GULP1_ENST00000359135.3_Missense_Mutation_p.F262C			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	262					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTGACCCATTTAACTGTGGA	0.368																																					Pancreas(178;563 2065 20199 42378 52815)	ENST00000409580.1																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.(784-786)tTt>tGt		GULP, engulfment adaptor PTB domain containing 1		T	CYS/PHE	0,4406		0,0,2203	109.0	109.0	109.0		785	5.6	1.0	2		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	GULP1	NM_016315.2	205	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging	262/305	189452618	1,13005	2203	4300	6503	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189452618T>G	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.785T>G	2.37:g.189452618T>G	ENSP00000386289:p.Phe262Cys					GULP1_ENST00000409609.1_Missense_Mutation_p.F262C|GULP1_ENST00000409830.1_Missense_Mutation_p.F262C|GULP1_ENST00000409843.1_Missense_Mutation_p.F262C|GULP1_ENST00000359135.3_Missense_Mutation_p.F262C|GULP1_ENST00000409805.1_Missense_Mutation_p.F159C	p.F262C			Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		12	1499	+			262					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.785T>G	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.502749|4.502749	0.85176|0.85176	0.0|0.0	1.16E-4|1.16E-4	ENSG00000144366|ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609|ENST00000451191;ENST00000433052	T;T;T;T;T|.	0.52754|.	0.65;0.68;0.68;0.68;0.68|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75583|0.75583	0.3869|0.3869	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.91635|.	0.98;0.999;0.996;0.921|.	T|T	0.76793|0.76793	-0.2828|-0.2828	10|5	0.59425|.	D|.	0.04|.	-8.4066|-8.4066	14.9588|14.9588	0.71141|0.71141	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	159;86;262;262|.	E9PB86;Q59EC1;Q9UBP9;B8ZZ72|.	.;.;GULP1_HUMAN;.|.	C|V	262;262;159;262;262;262|87;147	ENSP00000387144:F262C;ENSP00000386732:F262C;ENSP00000352047:F262C;ENSP00000386289:F262C;ENSP00000386867:F262C|.	ENSP00000352047:F262C|.	F|L	+|+	2|1	0|2	GULP1|GULP1	189160863|189160863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.698000|7.698000	0.84413|0.84413	2.135000|2.135000	0.66039|0.66039	0.482000|0.482000	0.46254|0.46254	TTT|TTA		0.368	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		17	36	0	0	0	1	0	17	36				
ABCA3	21	broad.mit.edu	37	16	2354003	2354003	+	Silent	SNP	G	G	A	rs199642666		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:2354003G>A	ENST00000301732.5	-	12	2134	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ABCA3_ENST00000382381.3_Silent_p.F420F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	478					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GAGGCACGCCGAACTGCCCTG	0.607													g|||	1	0.000199681	0.0	0.0	5008	,	,		17436	0.0		0.0	False		,,,				2504	0.001					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1432-1434)ttC>ttT		ATP-binding cassette, sub-family A (ABC1), member 3							130.0	114.0	119.0					16																	2354003		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2354003G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1434C>T	16.37:g.2354003G>A						ABCA3_ENST00000382381.3_Silent_p.F420F	p.F478F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			12	2134	-		Ovarian(90;0.17)	478					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.1434C>T	CCDS10466.1																																																																																				0.607	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		57	77	0	0	0	1	0	57	77				
ANK3	288	broad.mit.edu	37	10	61835651	61835651	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61835651A>C	ENST00000280772.2	-	37	5179	c.4988T>G	c.(4987-4989)aTt>aGt	p.I1663S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1663	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGATGTAATAATTGACTTAAA	0.398																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4987-4989)aTt>aGt		ankyrin 3, node of Ranvier (ankyrin G)							105.0	101.0	103.0					10																	61835651		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835651A>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4988T>G	10.37:g.61835651A>C	ENSP00000280772:p.Ile1663Ser					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.I1663S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	5179	-			1663			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4988T>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407269	0.42715	.	.	ENSG00000151150	ENST00000280772	T	0.67345	-0.26	5.82	4.66	0.58398	.	0.000000	0.42548	D	0.000684	T	0.57184	0.2036	L	0.47716	1.5	0.80722	D	1	B	0.31680	0.335	B	0.22386	0.039	T	0.58042	-0.7706	10	0.72032	D	0.01	.	12.1522	0.54055	0.8716:0.0:0.0:0.1284	.	1663	Q12955	ANK3_HUMAN	S	1663	ENSP00000280772:I1663S	ENSP00000280772:I1663S	I	-	2	0	ANK3	61505657	1.000000	0.71417	0.494000	0.27515	0.994000	0.84299	4.702000	0.61817	0.996000	0.38943	0.383000	0.25322	ATT		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		24	53	0	0	0	1	0	24	53				
C21orf62	56245	broad.mit.edu	37	21	34166104	34166104	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34166104T>C	ENST00000536776.1	-	2	769	c.629A>G	c.(628-630)aAc>aGc	p.N210S	C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.N210S|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.N210S|C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.N210S	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	210										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				ATAGCTTTTGTTGCTTGGCAT	0.373																																						ENST00000536776.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(628-630)aAc>aGc		chromosome 21 open reading frame 62							113.0	107.0	109.0					21																	34166104		1889	4110	5999	SO:0001583	missense	56245							g.chr21:34166104T>C	AF231922	CCDS42919.1, CCDS42919.2	21q22.1	2011-02-24			ENSG00000205929	ENSG00000205929			1305	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 120"""	C21orf120			Standard	NM_001162495		Approved	B37, PRED81	uc011adu.2	Q9NYP8	OTTHUMG00000163477	ENST00000536776.1:c.629A>G	21.37:g.34166104T>C	ENSP00000444950:p.Asn210Ser					C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.N210S|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.N210S|C21orf62_ENST00000490358.1_Missense_Mutation_p.N210S|C21orf49_ENST00000477513.1_Intron	p.N210S	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN			2	769	-		Myeloproliferative disorder(46;0.0255)	210					A8K4L8	Missense_Mutation	SNP	ENST00000536776.1	37	c.629A>G	CCDS42919.2	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375025	0.42105	.	.	ENSG00000205929	ENST00000536776;ENST00000490358;ENST00000487113;ENST00000382373;ENST00000479548	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	T	0.54111	0.1838	M	0.68952	2.095	0.32398	N	0.552363	B	0.30584	0.286	B	0.33750	0.169	T	0.66826	-0.5825	8	0.72032	D	0.01	-21.9277	11.895	0.52652	0.0:0.0:0.1455:0.8545	.	210	Q9NYP8	CU062_HUMAN	S	210;210;210;257;210	.	ENSP00000371810:N257S	N	-	2	0	C21orf62	33087975	1.000000	0.71417	0.157000	0.22605	0.788000	0.44548	3.057000	0.49931	2.257000	0.74773	0.459000	0.35465	AAC		0.373	C21orf62-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139598.5	NM_019596		26	53	0	0	0	1	0	26	53				
LRRC3B	116135	broad.mit.edu	37	3	26751258	26751258	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:26751258G>A	ENST00000396641.2	+	2	687	c.95G>A	c.(94-96)aGt>aAt	p.S32N	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S32N|LRRC3B_ENST00000417744.1_Missense_Mutation_p.S32N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	32						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CATTCTGCCAGTATGTGTCCC	0.448																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(94-96)aGt>aAt		leucine rich repeat containing 3B							193.0	179.0	184.0					3																	26751258		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751258G>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.95G>A	3.37:g.26751258G>A	ENSP00000379880:p.Ser32Asn					LRRC3B_ENST00000417744.1_Missense_Mutation_p.S32N|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S32N	p.S32N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	687	+			32					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.95G>A	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392195	0.62066	.	.	ENSG00000179796	ENST00000396641;ENST00000414619;ENST00000432040;ENST00000417744;ENST00000456208	T;T;T;T	0.61859	0.19;0.07;0.19;0.19	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.19112	0.55	0.80722	D	1	D	0.54047	0.964	B	0.40677	0.337	T	0.32587	-0.9901	10	0.23302	T	0.38	-21.5051	19.8676	0.96824	0.0:0.0:1.0:0.0	.	32	Q96PB8	LRC3B_HUMAN	N	32	ENSP00000379880:S32N;ENSP00000398184:S32N;ENSP00000406370:S32N;ENSP00000394940:S32N	ENSP00000379880:S32N	S	+	2	0	LRRC3B	26726262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.409000	0.73289	2.941000	0.99782	0.655000	0.94253	AGT		0.448	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		32	34	0	0	0	1	0	32	34				
SEMA3A	10371	broad.mit.edu	37	7	83590853	83590853	+	Missense_Mutation	SNP	G	G	A	rs138952094		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83590853G>A	ENST00000265362.4	-	17	2464	c.2150C>T	c.(2149-2151)aCa>aTa	p.T717I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T717I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	717					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTCATCCATTGTGTTGAGATT	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19001	0.0		0.0	False		,,,				2504	0.0					ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2149-2151)aCa>aTa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		G	ILE/THR	0,4406		0,0,2203	192.0	167.0	175.0		2150	5.8	1.0	7	dbSNP_134	175	3,8597		0,3,4297	yes	missense	SEMA3A	NM_006080.2	89	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	717/772	83590853	3,13003	2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83590853G>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2150C>T	7.37:g.83590853G>A	ENSP00000265362:p.Thr717Ile					SEMA3A_ENST00000436949.1_Missense_Mutation_p.T717I	p.T717I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			17	2464	-			717						Missense_Mutation	SNP	ENST00000265362.4	37	c.2150C>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954890	0.53293	0.0	3.49E-4	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.28255	1.62;1.62	5.78	5.78	0.91487	.	0.042534	0.85682	D	0.000000	T	0.40979	0.1139	L	0.36672	1.1	0.54753	D	0.999987	P	0.52692	0.955	P	0.53450	0.726	T	0.01834	-1.1264	10	0.35671	T	0.21	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	717	Q14563	SEM3A_HUMAN	I	717	ENSP00000265362:T717I;ENSP00000415260:T717I	ENSP00000265362:T717I	T	-	2	0	SEMA3A	83428789	1.000000	0.71417	0.973000	0.42090	0.830000	0.47004	4.982000	0.63825	2.894000	0.99253	0.655000	0.94253	ACA		0.468	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		37	55	0	0	0	1	0	37	55				
PRRX1	5396	broad.mit.edu	37	1	170633455	170633455	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:170633455G>A	ENST00000239461.6	+	1	409	c.96G>A	c.(94-96)aaG>aaA	p.K32K	PRRX1_ENST00000497230.2_Silent_p.K32K|PRRX1_ENST00000367760.3_Silent_p.K32K	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	32					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGCGAAAAAGAACTTCTCCG	0.667																																						ENST00000239461.6																			0				large_intestine(2)|ovary(1)	3						c.(94-96)aaG>aaA		paired related homeobox 1							44.0	42.0	43.0					1																	170633455		2202	4300	6502	SO:0001819	synonymous_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170633455G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.96G>A	1.37:g.170633455G>A						PRRX1_ENST00000367760.3_Silent_p.K32K|PRRX1_ENST00000497230.2_Silent_p.K32K	p.K32K	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			1	409	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		32					B5BUM7|O60807	Silent	SNP	ENST00000239461.6	37	c.96G>A	CCDS1290.1																																																																																				0.667	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		4	30	0	0	0	1	0	4	30				
RSPH4A	345895	broad.mit.edu	37	6	116949485	116949485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:116949485G>T	ENST00000229554.5	+	3	1752	c.1615G>T	c.(1615-1617)Gaa>Taa	p.E539*	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E539*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	539	Glu-rich.				axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCTAGTAGAATCCCTATC	0.423									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1615-1617)Gaa>Taa		radial spoke head 4 homolog A (Chlamydomonas)							128.0	131.0	130.0					6																	116949485		2203	4300	6503	SO:0001587	stop_gained	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949485G>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1615G>T	6.37:g.116949485G>T	ENSP00000229554:p.Glu539*					RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E539*	p.E539*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1752	+			539			Glu-rich.		B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	c.1615G>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	36	5.858905	0.97036	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	.	.	.	5.86	5.86	0.93980	.	0.157368	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-12.7507	17.671	0.88217	0.0:0.0:1.0:0.0	.	.	.	.	X	539;539;334	.	ENSP00000229554:E539X	E	+	1	0	RSPH4A	117056178	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.178000	0.58284	2.778000	0.95560	0.655000	0.94253	GAA		0.423	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		28	69	1	0	2.47511e-08	1	2.91589e-08	28	69				
SRBD1	55133	broad.mit.edu	37	2	45620089	45620089	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:45620089C>T	ENST00000263736.4	-	20	2755	c.2693G>A	c.(2692-2694)cGa>cAa	p.R898Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.R417Q|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	898					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTACCTGTTCGAAAGTCAAA	0.413																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(2692-2694)cGa>cAa		S1 RNA binding domain 1							296.0	243.0	261.0					2																	45620089		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45620089C>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2693G>A	2.37:g.45620089C>T	ENSP00000263736:p.Arg898Gln					SRBD1_ENST00000535761.1_Missense_Mutation_p.R417Q|SRBD1_ENST00000490133.1_5'UTR	p.R898Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		20	2755	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	898					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.2693G>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952456	0.92660	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.41400	1.3;1.0	5.55	4.67	0.58626	.	0.000000	0.64402	D	0.000001	T	0.70622	0.3245	M	0.91196	3.185	0.54753	D	0.999989	D	0.89917	1.0	D	0.74674	0.984	T	0.78909	-0.2018	10	0.87932	D	0	.	14.558	0.68115	0.0:0.9297:0.0:0.0703	.	898	Q8N5C6	SRBD1_HUMAN	Q	898;417	ENSP00000263736:R898Q;ENSP00000441272:R417Q	ENSP00000263736:R898Q	R	-	2	0	SRBD1	45473593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.575000	0.74018	1.484000	0.48361	0.563000	0.77884	CGA		0.413	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		41	74	0	0	0	1	0	41	74				
DUSP11	8446	broad.mit.edu	37	2	73989834	73989834	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73989834T>G	ENST00000272444.3	-	9	1129	c.1088A>C	c.(1087-1089)aAt>aCt	p.N363T	DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	316					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TCTGGAGTAATTATAAGGATA	0.502																																						ENST00000272444.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(1087-1089)aAt>aCt		dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)							99.0	97.0	98.0					2																	73989834		2203	4300	6503	SO:0001583	missense	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:73989834T>G	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.1088A>C	2.37:g.73989834T>G	ENSP00000272444:p.Asn363Thr					DUSP11_ENST00000480948.1_5'UTR	p.N363T	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN			9	1129	-			316					B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	c.1088A>C	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	T	8.995	0.978650	0.18812	.	.	ENSG00000144048	ENST00000272444	.	.	.	4.85	-5.47	0.02600	.	1.371640	0.04190	N	0.328141	T	0.20941	0.0504	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18713	-1.0328	9	0.39692	T	0.17	3.0274	7.0438	0.25035	0.0:0.3176:0.2455:0.4369	.	316	O75319	DUS11_HUMAN	T	363	.	ENSP00000272444:N363T	N	-	2	0	DUSP11	73843342	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.692000	0.01918	-1.357000	0.02180	-1.213000	0.01624	AAT		0.502	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			8	73	0	0	0	1	0	8	73				
PROS1	5627	broad.mit.edu	37	3	93617309	93617309	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93617309C>A	ENST00000394236.3	-	8	1148	c.832G>T	c.(832-834)Gat>Tat	p.D278Y	PROS1_ENST00000407433.1_Missense_Mutation_p.D147Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	278	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTCTTCTGATCTTGGGCAAGT	0.383																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(832-834)Gat>Tat		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						102.0	96.0	98.0					3																	93617309		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93617309C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.832G>T	3.37:g.93617309C>A	ENSP00000377783:p.Asp278Tyr					PROS1_ENST00000407433.1_Missense_Mutation_p.D147Y	p.D278Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			8	1148	-			278			EGF-like 4; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.832G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364631	0.61513	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78816	-1.21;-1.21	4.26	4.26	0.50523	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.205006	0.42172	D	0.000755	D	0.90017	0.6883	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	D	0.92858	0.6303	10	0.87932	D	0	.	17.2048	0.86914	0.0:1.0:0.0:0.0	.	278	P07225	PROS_HUMAN	Y	278;147	ENSP00000377783:D278Y;ENSP00000385794:D147Y	ENSP00000377783:D278Y	D	-	1	0	PROS1	95099999	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	5.969000	0.70422	2.374000	0.81015	0.585000	0.79938	GAT		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		24	36	1	0	1.10923e-09	1	1.34134e-09	24	36				
ATF7IP2	80063	broad.mit.edu	37	16	10534236	10534236	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:10534236C>A	ENST00000396560.2	+	6	1338	c.1111C>A	c.(1111-1113)Ctt>Att	p.L371I	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.L371I|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.L371I|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.L371I|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AATAGCAAAACTTCAAAGACG	0.294																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(1111-1113)Ctt>Att		activating transcription factor 7 interacting protein 2							33.0	35.0	34.0					16																	10534236		2189	4290	6479	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10534236C>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1111C>A	16.37:g.10534236C>A	ENSP00000379808:p.Leu371Ile					ATF7IP2_ENST00000324570.5_Missense_Mutation_p.L371I|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.L371I|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.L371I|ATF7IP2_ENST00000543967.1_Intron	p.L371I	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			6	1338	+			371					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1111C>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940528	0.52972	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.42	3.45	0.39498	.	0.000000	0.46758	D	0.000265	T	0.50429	0.1615	L	0.59436	1.845	0.26599	N	0.973055	D;D	0.60160	0.987;0.971	P;P	0.55749	0.64;0.783	T	0.45264	-0.9273	10	0.87932	D	0	-4.753	9.9136	0.41421	0.2044:0.7956:0.0:0.0	.	371;371	Q5U623-2;Q5U623	.;MCAF2_HUMAN	I	371	ENSP00000379807:L371I;ENSP00000379808:L371I;ENSP00000440791:L371I;ENSP00000348799:L371I;ENSP00000322811:L371I	ENSP00000322811:L371I	L	+	1	0	ATF7IP2	10441737	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.227000	0.42972	0.950000	0.37743	-0.282000	0.10007	CTT		0.294	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		5	12	1	0	0.217242	1	0.218251	5	12				
GABRA3	2556	broad.mit.edu	37	X	151358217	151358217	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151358217C>A	ENST00000370314.4	-	9	1366	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.E376D|GABRA3_ENST00000497894.1_5'UTR	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	376					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTCCAGGGCCTCTGGCACCT	0.502																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1126-1128)gaG>gaT		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						78.0	78.0	78.0					X																	151358217		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151358217C>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1128G>T	X.37:g.151358217C>A	ENSP00000359337:p.Glu376Asp					GABRA3_ENST00000535043.1_Missense_Mutation_p.E376D|GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000370311.1_Missense_Mutation_p.E376D	p.E376D	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			9	1366	-	Acute lymphoblastic leukemia(192;6.56e-05)		376					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1128G>T	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133434	0.37630	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.85955	-2.05;-2.05;-2.05	5.82	3.12	0.35913	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.077380	0.07044	N	0.830584	D	0.83207	0.5204	N	0.11427	0.14	0.45515	D	0.998478	D	0.57257	0.979	D	0.74023	0.982	T	0.71862	-0.4464	10	0.22109	T	0.4	.	7.7851	0.29087	0.0:0.6541:0.0:0.3459	.	376	P34903	GBRA3_HUMAN	D	376	ENSP00000359337:E376D;ENSP00000359334:E376D;ENSP00000443527:E376D	ENSP00000359334:E376D	E	-	3	2	GABRA3	151108873	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	0.525000	0.22956	0.628000	0.30357	0.597000	0.82753	GAG		0.502	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		33	46	1	0	6.00712e-18	1	8.10414e-18	33	46				
ZFYVE16	9765	broad.mit.edu	37	5	79734320	79734320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79734320G>T	ENST00000338008.5	+	3	1996	c.1816G>T	c.(1816-1818)Gaa>Taa	p.E606*	ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E606*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E606*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	606					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAATACAATAGAAAATGGCCT	0.313																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1816-1818)Gaa>Taa		zinc finger, FYVE domain containing 16							68.0	79.0	76.0					5																	79734320		2203	4297	6500	SO:0001587	stop_gained	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79734320G>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1816G>T	5.37:g.79734320G>T	ENSP00000337159:p.Glu606*					ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E606*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E606*	p.E606*	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	1996	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	606					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Nonsense_Mutation	SNP	ENST00000338008.5	37	c.1816G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255503	0.80135	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.34	4.44	0.53790	.	0.422934	0.22424	N	0.060249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-4.5213	14.0333	0.64629	0.0:0.1514:0.8486:0.0	.	.	.	.	X	606	.	ENSP00000337159:E606X	E	+	1	0	ZFYVE16	79770076	0.934000	0.31675	0.740000	0.30986	0.103000	0.19146	2.331000	0.43894	1.334000	0.45468	0.650000	0.86243	GAA		0.313	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		37	68	1	0	4.65686e-17	1	6.22576e-17	37	68				
MEI1	150365	broad.mit.edu	37	22	42141899	42141899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42141899G>T	ENST00000401548.3	+	14	1589	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|Y_RNA_ENST00000384086.1_RNA|MEI1_ENST00000540833.1_Nonsense_Mutation_p.E257*	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTGGCTATAGAATTCCAGAG	0.502																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1549-1551)Gaa>Taa		meiosis inhibitor 1							67.0	67.0	67.0					22																	42141899		1911	4142	6053	SO:0001587	stop_gained	150365						binding	g.chr22:42141899G>T	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1549G>T	22.37:g.42141899G>T	ENSP00000384115:p.Glu517*					MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Nonsense_Mutation_p.E257*|MEI1_ENST00000400107.1_5'UTR	p.E517*	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			14	1589	+			517						Nonsense_Mutation	SNP	ENST00000401548.3	37	c.1549G>T	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	37	6.436302	0.97564	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	.	.	.	5.43	5.43	0.79202	.	0.133814	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.5029	18.0141	0.89233	0.0:0.0:1.0:0.0	.	.	.	.	X	517;257	.	ENSP00000384115:E517X	E	+	1	0	MEI1	40471845	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.203000	0.72137	2.532000	0.85374	0.655000	0.94253	GAA		0.502	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		10	43	1	0	0.000442599	1	0.00046913	10	43				
NRK	203447	broad.mit.edu	37	X	105179175	105179175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105179175C>T	ENST00000243300.9	+	21	3816	c.3513C>T	c.(3511-3513)ttC>ttT	p.F1171F	NRK_ENST00000428173.2_Silent_p.F1172F	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1171					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACGCTGGATTCGTAGAAGTAC	0.373										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(3514-3516)ttC>ttT		Nik related kinase							179.0	159.0	165.0					X																	105179175		1891	4103	5994	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105179175C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3513C>T	X.37:g.105179175C>T		HNSCC(51;0.14)				NRK_ENST00000243300.9_Silent_p.F1171F	p.F1172F			Q7Z2Y5	NRK_HUMAN			21	3819	+			1171					Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.3516C>T																																																																																					0.373	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		28	65	0	0	0	1	0	28	65				
SH3PXD2B	285590	broad.mit.edu	37	5	171766016	171766016	+	Missense_Mutation	SNP	C	C	T	rs144659619		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:171766016C>T	ENST00000311601.5	-	13	2263	c.2093G>A	c.(2092-2094)cGa>cAa	p.R698Q	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	698					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGGAAGCTTCGGCTGAAGGC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17318	0.0		0.0	False		,,,				2504	0.0					ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2092-2094)cGa>cAa		SH3 and PX domains 2B		C	GLN/ARG	8,4398	14.3+/-33.2	0,8,2195	42.0	43.0	43.0		2093	2.4	0.9	5	dbSNP_134	43	0,8600		0,0,4300	no	missense	SH3PXD2B	NM_001017995.2	43	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	benign	698/912	171766016	8,12998	2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171766016C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2093G>A	5.37:g.171766016C>T	ENSP00000309714:p.Arg698Gln					SH3PXD2B_ENST00000519643.1_Intron	p.R698Q	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2263	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	698					B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.2093G>A	CCDS34291.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.26	1.884844	0.33255	0.001816	0.0	ENSG00000174705	ENST00000311601	T	0.60299	0.2	5.57	2.39	0.29439	.	0.343394	0.29389	N	0.012300	T	0.36771	0.0979	N	0.24115	0.695	0.09310	N	1	B	0.18166	0.026	B	0.04013	0.001	T	0.14364	-1.0475	9	.	.	.	-8.1222	7.7312	0.28788	0.0:0.6348:0.0:0.3652	.	698	A1X283	SPD2B_HUMAN	Q	698	ENSP00000309714:R698Q	.	R	-	2	0	SH3PXD2B	171698621	0.001000	0.12720	0.885000	0.34714	0.990000	0.78478	0.333000	0.19768	0.722000	0.32252	0.561000	0.74099	CGA		0.632	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		22	45	0	0	0	1	0	22	45				
HERC1	8925	broad.mit.edu	37	15	63972977	63972977	+	Splice_Site	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:63972977T>A	ENST00000443617.2	-	35	6313		c.e35-2		RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1						cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AATATAAAACTAAAATAAAAG	0.313																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.e35-2		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							82.0	78.0	79.0					15																	63972977		1811	4070	5881	SO:0001630	splice_region_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63972977T>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6226-2A>T	15.37:g.63972977T>A						RP11-317G6.1_ENST00000559303.2_RNA		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			35	6313	-								Q8IW65	Splice_Site	SNP	ENST00000443617.2	37		CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264763	0.80358	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2109	0.82158	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC1	61760030	1.000000	0.71417	0.993000	0.49108	0.891000	0.51852	8.040000	0.89188	2.230000	0.72887	0.455000	0.32223	.		0.313	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	Intron	23	30	0	0	0	1	0	23	30				
TCP1	6950	broad.mit.edu	37	6	160201557	160201557	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160201557T>C	ENST00000321394.7	-	9	1295	c.1015A>G	c.(1015-1017)Act>Gct	p.T339A	TCP1_ENST00000544255.1_Missense_Mutation_p.T115A|SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000392168.2_Missense_Mutation_p.T184A|TCP1_ENST00000420894.2_Missense_Mutation_p.T339A	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	339					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCTTCAAAAGTTTCTTCACCT	0.373																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(1015-1017)Act>Gct		t-complex 1							112.0	112.0	112.0					6																	160201557		2203	4300	6503	SO:0001583	missense	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160201557T>C	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.1015A>G	6.37:g.160201557T>C	ENSP00000317334:p.Thr339Ala					TCP1_ENST00000420894.2_Missense_Mutation_p.T339A|TCP1_ENST00000544255.1_Missense_Mutation_p.T115A|TCP1_ENST00000392168.2_Missense_Mutation_p.T184A	p.T339A	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	9	1295	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	339					E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	c.1015A>G	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185527	0.57909	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168;ENST00000539756	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.76	5.76	0.90799	.	0.084027	0.85682	D	0.000000	T	0.36386	0.0965	N	0.17723	0.515	0.54753	D	0.999989	B;B	0.06786	0.001;0.0	B;B	0.24974	0.006;0.057	T	0.24621	-1.0155	10	0.35671	T	0.21	-42.7854	16.3634	0.83296	0.0:0.0:0.0:1.0	.	339;339	E7ERF2;P17987	.;TCPA_HUMAN	A	339;115;339;184;137	ENSP00000317334:T339A;ENSP00000439447:T115A;ENSP00000390159:T339A;ENSP00000376008:T184A;ENSP00000441345:T137A	ENSP00000317334:T339A	T	-	1	0	TCP1	160121547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.493000	0.81493	2.324000	0.78689	0.533000	0.62120	ACT		0.373	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		39	70	0	0	0	1	0	39	70				
GPR132	29933	broad.mit.edu	37	14	105517481	105517481	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105517481C>A	ENST00000329797.3	-	4	1904	c.993G>T	c.(991-993)atG>atT	p.M331I	GPR132_ENST00000539291.2_Missense_Mutation_p.M331I|GPR132_ENST00000392585.2_Missense_Mutation_p.M322I|GPR132_ENST00000546679.1_5'Flank	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	331					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGTCTGTCTTCATGGACCACT	0.612																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(991-993)atG>atT		G protein-coupled receptor 132							201.0	159.0	173.0					14																	105517481		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517481C>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.993G>T	14.37:g.105517481C>A	ENSP00000328818:p.Met331Ile					GPR132_ENST00000392585.2_Missense_Mutation_p.M322I|GPR132_ENST00000539291.2_Missense_Mutation_p.M331I	p.M331I	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1904	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	331					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.993G>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.793102	0.31685	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.36340	1.26;1.26;1.26	4.27	-8.55	0.00908	.	1.342170	0.05122	N	0.490893	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20207	-1.0282	10	0.29301	T	0.29	.	9.8468	0.41032	0.0:0.1366:0.2854:0.578	.	322;331	B4E144;Q9UNW8	.;GP132_HUMAN	I	331;322;331	ENSP00000328818:M331I;ENSP00000376364:M322I;ENSP00000438094:M331I	ENSP00000328818:M331I	M	-	3	0	GPR132	104588526	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.420000	0.00477	-1.756000	0.01318	0.467000	0.42956	ATG		0.612	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		23	37	1	0	6.21321e-17	1	8.30052e-17	23	37				
ABCC12	94160	broad.mit.edu	37	16	48145699	48145699	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48145699T>C	ENST00000311303.3	-	14	2457	c.2112A>G	c.(2110-2112)ggA>ggG	p.G704G	ABCC12_ENST00000448542.1_Silent_p.G704G|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	704						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGAACTGCAATCCTCGCAGGT	0.483																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2110-2112)ggA>ggG		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							155.0	148.0	150.0					16																	48145699		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48145699T>C	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2112A>G	16.37:g.48145699T>C						ABCC12_ENST00000448542.1_Silent_p.G704G|ABCC12_ENST00000416054.1_3'UTR	p.G704G	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			14	2457	-		all_cancers(37;0.0474)|all_lung(18;0.047)	704					Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.2112A>G	CCDS10730.1																																																																																				0.483	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		23	59	0	0	0	1	0	23	59				
OC90	729330	broad.mit.edu	37	8	133036749	133036749	+	Silent	SNP	G	G	A	rs141981890	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133036749G>A	ENST00000443356.2	-	15	1547	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	OC90_ENST00000254627.3_Silent_p.I471I|OC90_ENST00000603859.1_Silent_p.I471I|OC90_ENST00000262283.5_Silent_p.I683I			Q02509	OC90_HUMAN	otoconin 90	487					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGAGGCCCGATCCCCAAGG	0.577													G|||	3	0.000599042	0.0	0.0	5008	,	,		19537	0.003		0.0	False		,,,				2504	0.0					ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(2047-2049)atC>atT		otoconin 90							24.0	27.0	26.0					8																	133036749		1934	4143	6077	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133036749G>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1461C>T	8.37:g.133036749G>A						OC90_ENST00000603859.1_Silent_p.I471I|OC90_ENST00000443356.2_Silent_p.I487I|OC90_ENST00000254627.3_Silent_p.I471I	p.I683I			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		18	2148	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		487					B4DNG8	Silent	SNP	ENST00000443356.2	37	c.2049C>T																																																																																					0.577	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		11	12	0	0	0	1	0	11	12				
PTEN	5728	broad.mit.edu	37	10	89711983	89711983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89711983G>T	ENST00000371953.3	+	6	1958	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	201	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.F200fs*21(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GATGATGTTTGAAACTATTCC	0.373		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		54	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Insertion - Frameshift(2)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.F200fs*21(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(13)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(601-603)Gaa>Taa		phosphatase and tensin homolog							152.0	150.0	151.0					10																	89711983		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711983G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.601G>T	10.37:g.89711983G>T	ENSP00000361021:p.Glu201*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.E201*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1958	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	201			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.601G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	50	16.836311	0.99873	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.85	5.85	0.93711	.	0.137321	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.8519	20.1698	0.98157	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	.	E	+	1	0	PTEN	89701963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.777000	0.95525	0.585000	0.79938	GAA		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		40	62	1	0	1.07121e-22	1	1.49242e-22	40	62				
OR10J5	127385	broad.mit.edu	37	1	159505559	159505559	+	Missense_Mutation	SNP	C	C	T	rs146863607		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:159505559C>T	ENST00000334857.2	-	1	283	c.239G>A	c.(238-240)cGa>cAa	p.R80Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R80Q(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAAAAGCATTCGTGGCACAAT	0.428																																						ENST00000334857.2																			1	Substitution - Missense(1)	p.R80Q(1)	skin(1)	kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(238-240)cGa>cAa		olfactory receptor, family 10, subfamily J, member 5							164.0	134.0	144.0					1																	159505559		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505559C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.239G>A	1.37:g.159505559C>T	ENSP00000334441:p.Arg80Gln						p.R80Q	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	283	-	all_hematologic(112;0.0429)		80					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.239G>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	0.608	-0.826345	0.02734	.	.	ENSG00000184155	ENST00000334857	T	0.00402	7.56	4.32	0.154	0.14901	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.10645	0.015	0.09310	N	1	B	0.27656	0.184	B	0.18871	0.023	T	0.01162	-1.1432	9	0.31617	T	0.26	.	4.4577	0.11650	0.1563:0.5707:0.0:0.273	.	80	Q8NHC4	O10J5_HUMAN	Q	80	ENSP00000334441:R80Q	ENSP00000334441:R80Q	R	-	2	0	OR10J5	157772183	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.480000	0.06559	-0.056000	0.13221	-0.373000	0.07131	CGA		0.428	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		41	70	0	0	0	1	0	41	70				
DARS	1615	broad.mit.edu	37	2	136673886	136673886	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:136673886A>C	ENST00000264161.4	-	11	1231	c.1016T>G	c.(1015-1017)tTt>tGt	p.F339C	DARS_ENST00000537273.1_Missense_Mutation_p.F239C	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	339					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TGGCTCCAAAAATTTGAATGG	0.363																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(1015-1017)tTt>tGt		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						135.0	134.0	134.0					2																	136673886		2203	4300	6503	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136673886A>C	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1016T>G	2.37:g.136673886A>C	ENSP00000264161:p.Phe339Cys					DARS_ENST00000537273.1_Missense_Mutation_p.F239C	p.F339C	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	11	1231	-			339					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.1016T>G	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881847	0.72294	.	.	ENSG00000115866	ENST00000264161;ENST00000422708;ENST00000537273	T;T;T	0.65364	0.99;-0.15;0.99	5.43	4.26	0.50523	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.043673	0.85682	D	0.000000	D	0.83903	0.5355	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87201	0.2241	10	0.87932	D	0	-10.2063	12.0264	0.53373	0.8705:0.0:0.0:0.1295	.	339	P14868	SYDC_HUMAN	C	339;53;239	ENSP00000264161:F339C;ENSP00000387508:F53C;ENSP00000444192:F239C	ENSP00000264161:F339C	F	-	2	0	DARS	136390356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.883000	0.69721	0.973000	0.38340	0.528000	0.53228	TTT		0.363	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		6	67	0	0	0	1	0	6	67				
ASTN1	460	broad.mit.edu	37	1	176903403	176903403	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176903403G>A	ENST00000367654.3	-	16	2791	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	ASTN1_ENST00000367657.3_Silent_p.F852F|ASTN1_ENST00000361833.2_Silent_p.F852F|ASTN1_ENST00000424564.2_Silent_p.F852F|ASTN1_ENST00000281881.3_5'Flank	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	860					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AATGGTTGCCGAACTGGTCCA	0.542																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2578-2580)ttC>ttT		astrotactin 1							119.0	98.0	105.0					1																	176903403		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903403G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2580C>T	1.37:g.176903403G>A						ASTN1_ENST00000361833.2_Silent_p.F852F|ASTN1_ENST00000367657.3_Silent_p.F852F|ASTN1_ENST00000424564.2_Silent_p.F852F	p.F860F			O14525	ASTN1_HUMAN			16	2593	-			860					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2580C>T																																																																																					0.542	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		25	32	0	0	0	1	0	25	32				
HMCN1	83872	broad.mit.edu	37	1	185970453	185970453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185970453G>T	ENST00000271588.4	+	27	4322	c.4093G>T	c.(4093-4095)Gaa>Taa	p.E1365*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E1365*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1365	Ig-like C2-type 11.				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						TAAAGATAAAGAACAAGTTAC	0.343																																						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.(4093-4095)Gaa>Taa		hemicentin 1							81.0	83.0	82.0					1																	185970453		2202	4300	6502	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185970453G>T	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.4093G>T	1.37:g.185970453G>T	ENSP00000271588:p.Glu1365*					HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E1365*	p.E1365*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			27	4322	+			1365			Ig-like C2-type 11.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.4093G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	46	12.138375	0.99639	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.72	5.72	0.89469	.	0.266387	0.43416	D	0.000563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	19.8722	0.96854	0.0:0.0:1.0:0.0	.	.	.	.	X	1365	.	ENSP00000271588:E1365X	E	+	1	0	HMCN1	184237076	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.366000	0.73095	2.700000	0.92200	0.585000	0.79938	GAA		0.343	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	35	1	0	1.99824e-07	1	2.29918e-07	17	35				
SPTBN5	51332	broad.mit.edu	37	15	42143119	42143119	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42143119C>A	ENST00000320955.6	-	66	11081	c.10854G>T	c.(10852-10854)gaG>gaT	p.E3618D	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3618	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAAACAGGATCTCTGCCCCAC	0.672																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(10852-10854)gaG>gaT		spectrin, beta, non-erythrocytic 5							24.0	30.0	28.0					15																	42143119		2165	4269	6434	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42143119C>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10854G>T	15.37:g.42143119C>A	ENSP00000317790:p.Glu3618Asp						p.E3618D	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	66	11081	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3618			PH.			Missense_Mutation	SNP	ENST00000320955.6	37	c.10854G>T		.	.	.	.	.	.	.	.	.	.	.	10.78	1.446298	0.25987	.	.	ENSG00000137877	ENST00000320955	T	0.36520	1.25	3.12	-2.68	0.06041	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.494482	0.17041	N	0.189317	T	0.30727	0.0774	M	0.80616	2.505	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.39583	-0.9607	10	0.87932	D	0	.	0.8539	0.01178	0.3054:0.3481:0.1496:0.1969	.	3618	Q9NRC6	SPTN5_HUMAN	D	3618	ENSP00000317790:E3618D	ENSP00000317790:E3618D	E	-	3	2	SPTBN5	39930411	0.025000	0.19082	0.000000	0.03702	0.027000	0.11550	0.024000	0.13555	-0.612000	0.05701	0.561000	0.74099	GAG		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		11	11	1	0	3.07112e-06	1	3.42433e-06	11	11				
NKRF	55922	broad.mit.edu	37	X	118724928	118724928	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118724928G>T	ENST00000371527.1	-	2	1112	c.460C>A	c.(460-462)Cct>Act	p.P154T	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.P169T|NKRF_ENST00000304449.5_Missense_Mutation_p.P154T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	154	Active repression domain.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P154S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GAAGGCTCAGGAGTTGACTGA	0.463																																						ENST00000371527.1																			1	Substitution - Missense(1)	p.P154S(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(460-462)Cct>Act		NFKB repressing factor							137.0	115.0	122.0					X																	118724928		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724928G>T	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.460C>A	X.37:g.118724928G>T	ENSP00000360582:p.Pro154Thr					NKRF_ENST00000542113.1_Missense_Mutation_p.P169T|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.P154T	p.P154T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	1112	-			154			Active repression domain.		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.460C>A	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	G	1.945	-0.442539	0.04604	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.41758	0.99;0.99;0.99	5.69	2.78	0.32641	.	0.340824	0.31167	N	0.008136	T	0.19287	0.0463	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09729	-1.0661	10	0.39692	T	0.17	-2.2878	5.3853	0.16215	0.0831:0.3457:0.4527:0.1184	.	154	O15226	NKRF_HUMAN	T	154;154;169	ENSP00000360582:P154T;ENSP00000304803:P154T;ENSP00000442308:P169T	ENSP00000304803:P154T	P	-	1	0	NKRF	118608956	0.002000	0.14202	0.697000	0.30258	0.832000	0.47134	0.240000	0.18042	1.142000	0.42291	0.594000	0.82650	CCT		0.463	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		30	74	1	0	2.90539e-05	1	3.18585e-05	30	74				
CD180	4064	broad.mit.edu	37	5	66479942	66479942	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:66479942C>T	ENST00000256447.4	-	3	886	c.729G>A	c.(727-729)caG>caA	p.Q243Q		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	243					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TAGTAGAGTTCTGCAGACCAT	0.408																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(727-729)caG>caA		CD180 molecule							82.0	88.0	86.0					5																	66479942		2203	4300	6503	SO:0001819	synonymous_variant	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479942C>T	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.729G>A	5.37:g.66479942C>T							p.Q243Q	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	886	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	243					B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	c.729G>A	CCDS3992.1																																																																																				0.408	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		25	43	0	0	0	1	0	25	43				
BRD8	10902	broad.mit.edu	37	5	137476564	137476564	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137476564C>T	ENST00000254900.5	-	26	3816	c.3445G>A	c.(3445-3447)Gac>Aac	p.D1149N	NME5_ENST00000265191.2_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1149	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTAGTTAAGTCCATGGGTCTG	0.428																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(3445-3447)Gac>Aac		bromodomain containing 8							173.0	174.0	174.0					5																	137476564		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137476564C>T	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3445G>A	5.37:g.137476564C>T	ENSP00000254900:p.Asp1149Asn						p.D1149N	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		26	3816	-			1149			Bromo 2.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.3445G>A	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704832	0.96812	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.32272	1.46;1.46	5.96	5.96	0.96718	Bromodomain (5);	0.000000	0.52532	D	0.000062	T	0.73110	0.3545	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82969	-0.0193	10	0.87932	D	0	-9.3985	19.4101	0.94667	0.0:1.0:0.0:0.0	.	1149	Q9H0E9	BRD8_HUMAN	N	1149;255	ENSP00000254900:D1149N;ENSP00000392646:D255N	ENSP00000254900:D1149N	D	-	1	0	BRD8	137504463	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAC		0.428	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		69	152	0	0	0	1	0	69	152				
CNTD1	124817	broad.mit.edu	37	17	40956314	40956314	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40956314C>A	ENST00000588408.1	+	3	593	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CNTD1_ENST00000588527.1_Missense_Mutation_p.S23Y	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	106	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAGAGAGAGTCTCAGAATTGG	0.458																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(316-318)tCt>tAt		cyclin N-terminal domain containing 1							122.0	115.0	117.0					17																	40956314		2203	4300	6503	SO:0001583	missense	124817							g.chr17:40956314C>A	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.317C>A	17.37:g.40956314C>A	ENSP00000465204:p.Ser106Tyr					CNTD1_ENST00000588527.1_Missense_Mutation_p.S23Y	p.S106Y	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	3	593	+		Breast(137;0.00104)	106			Cyclin N-terminal.		Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	c.317C>A	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	C	2.525	-0.309810	0.05458	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.23	2.16	0.27623	Cyclin-like (2);	1.040630	0.07517	N	0.909869	T	0.25606	0.0623	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.26326	-1.0106	9	0.59425	D	0.04	0.0559	4.7037	0.12839	0.1497:0.5978:0.0:0.2526	.	106	Q8N815	CNTD1_HUMAN	Y	106	.	ENSP00000316647:S106Y	S	+	2	0	CNTD1	38209840	0.000000	0.05858	0.013000	0.15412	0.020000	0.10135	-0.049000	0.11924	0.216000	0.20781	-0.254000	0.11334	TCT		0.458	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		28	69	1	0	1.16021e-09	1	1.40238e-09	28	69				
DENND4C	55667	broad.mit.edu	37	9	19296187	19296187	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19296187T>G	ENST00000380432.2	+	2	308	c.275T>G	c.(274-276)tTt>tGt	p.F92C	DENND4C_ENST00000434457.2_Missense_Mutation_p.F328C|DENND4C_ENST00000602925.1_Missense_Mutation_p.F328C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	92	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTAGGAAATTTCTTATGTTT	0.368																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(274-276)tTt>tGt		DENN/MADD domain containing 4C							161.0	147.0	152.0					9																	19296187		1806	4078	5884	SO:0001583	missense	55667					integral to membrane		g.chr9:19296187T>G	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.275T>G	9.37:g.19296187T>G	ENSP00000369797:p.Phe92Cys					DENND4C_ENST00000434457.2_Missense_Mutation_p.F328C|DENND4C_ENST00000602925.1_Missense_Mutation_p.F328C|DENND4C_ENST00000307015.9_5'UTR	p.F92C	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			2	308	+			92			DENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.275T>G		.	.	.	.	.	.	.	.	.	.	T	20.6	4.019008	0.75275	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.88	4.88	0.63580	DENN (3);	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77146	-0.2695	9	0.87932	D	0	-22.5242	14.6596	0.68861	0.0:0.0:0.0:1.0	.	92	Q5VZ89	DEN4C_HUMAN	C	92	.	ENSP00000369802:F92C	F	+	2	0	DENND4C	19286187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.808000	0.86044	2.045000	0.60652	0.482000	0.46254	TTT		0.368	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		34	64	0	0	0	1	0	34	64				
ST13	6767	broad.mit.edu	37	22	41222622	41222622	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:41222622T>C	ENST00000216218.3	-	12	1511	c.1030A>G	c.(1030-1032)Aat>Gat	p.N344D		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	344	STI1.				chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTTGACATATTTGCTGGGTTC	0.393																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(1030-1032)Aat>Gat		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							95.0	99.0	98.0					22																	41222622		2202	4296	6498	SO:0001583	missense	6767						protein binding, bridging	g.chr22:41222622T>C		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.1030A>G	22.37:g.41222622T>C	ENSP00000216218:p.Asn344Asp						p.N344D	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN			12	1511	-			344			STI1.		O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	37	c.1030A>G	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	T	33	5.219254	0.95139	.	.	ENSG00000100380	ENST00000216218	T	0.56444	0.46	5.76	5.76	0.90799	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.77191	0.4094	M	0.90198	3.095	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.80966	-0.1146	10	0.49607	T	0.09	.	16.0723	0.80943	0.0:0.0:0.0:1.0	.	334;344	B4E0U6;P50502	.;F10A1_HUMAN	D	344	ENSP00000216218:N344D	ENSP00000216218:N344D	N	-	1	0	ST13	39552568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.199000	0.77831	2.199000	0.70637	0.528000	0.53228	AAT		0.393	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		40	61	0	0	0	1	0	40	61				
ULBP3	79465	broad.mit.edu	37	6	150386730	150386730	+	Silent	SNP	G	G	A	rs374852630	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150386730G>A	ENST00000367339.2	-	3	460	c.432C>T	c.(430-432)ttC>ttT	p.F144F	ULBP3_ENST00000438272.2_Silent_p.F144F			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	144	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCCGTCCATCGAAGCTGAACT	0.527													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22542	0.0		0.0	False		,,,				2504	0.0					ENST00000367339.1																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(430-432)ttC>ttT		UL16 binding protein 3		G		1,4405	2.1+/-5.4	0,1,2202	135.0	126.0	129.0		432	0.3	0.0	6		129	0,8600		0,0,4300	no	coding-synonymous	ULBP3	NM_024518.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		144/245	150386730	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150386730G>A	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.432C>T	6.37:g.150386730G>A						ULBP3_ENST00000438272.2_Silent_p.F144F	p.F144F			Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	3	460	-		Ovarian(120;0.12)	144			MHC class I alpha-2 like.		Q5VY82|Q8IZX5|Q8TE75	Silent	SNP	ENST00000367339.2	37	c.432C>T	CCDS5225.1																																																																																				0.527	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			4	129	0	0	0	1	0	4	129				
TTN	7273	broad.mit.edu	37	2	179471898	179471898	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179471898A>G	ENST00000591111.1	-	228	48732	c.48508T>C	c.(48508-48510)Tgg>Cgg	p.W16170R	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W17811R|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W15243R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W8746R|TTN_ENST00000359218.5_Missense_Mutation_p.W8871R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W8938R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16170	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTGTCTCCAAGTATGCATC	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(53431-53433)Tgg>Cgg		titin							236.0	223.0	227.0					2																	179471898		1879	4133	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179471898A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48508T>C	2.37:g.179471898A>G	ENSP00000465570:p.Trp16170Arg					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W8938R|TTN_ENST00000359218.5_Missense_Mutation_p.W8871R|TTN_ENST00000342992.6_Missense_Mutation_p.W15243R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W8746R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W16170R	p.W17811R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		278	53655	-			16170			Ig-like 104.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53431T>C		.	.	.	.	.	.	.	.	.	.	A	11.82	1.753271	0.31046	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79299	0.4422	M	0.92317	3.295	0.52501	D	0.999959	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	D	0.84662	0.0707	9	0.87932	D	0	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	8746;8871;8938;16170	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	15243;8746;8938;8871;8746	ENSP00000343764:W15243R;ENSP00000434586:W8746R;ENSP00000340554:W8938R;ENSP00000352154:W8871R	ENSP00000340554:W8938R	W	-	1	0	TTN	179180143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	2.228000	0.72767	0.533000	0.62120	TGG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	115	0	0	0	1	0	4	115				
SHISA4	149345	broad.mit.edu	37	1	201860581	201860581	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201860581C>A	ENST00000362011.6	+	4	719	c.432C>A	c.(430-432)ccC>ccA	p.P144P	SHISA4_ENST00000464117.1_3'UTR|RP11-307B6.3_ENST00000414927.1_RNA	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	144	Pro-rich.					integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						ACCCATACCCCCAGGACCCCA	0.587																																						ENST00000362011.6																			0				kidney(1)|lung(4)	5						c.(430-432)ccC>ccA		shisa family member 4							110.0	111.0	111.0					1																	201860581		2203	4300	6503	SO:0001819	synonymous_variant	149345					integral to membrane		g.chr1:201860581C>A	AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.432C>A	1.37:g.201860581C>A						SHISA4_ENST00000464117.1_3'UTR	p.P144P	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN			4	719	+			144			Pro-rich.		B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Silent	SNP	ENST00000362011.6	37	c.432C>A	CCDS1416.1																																																																																				0.587	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1	NM_198149		62	81	1	0	1.95512e-22	1	2.71716e-22	62	81				
NLRP10	338322	broad.mit.edu	37	11	7982859	7982859	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982859T>G	ENST00000328600.2	-	2	461	c.300A>C	c.(298-300)gaA>gaC	p.E100D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	100					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCGGTATACTTCTCTGTAAT	0.493																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(298-300)gaA>gaC		NLR family, pyrin domain containing 10							59.0	59.0	59.0					11																	7982859		2201	4295	6496	SO:0001583	missense	338322						ATP binding	g.chr11:7982859T>G	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.300A>C	11.37:g.7982859T>G	ENSP00000327763:p.Glu100Asp						p.E100D	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	461	-			100					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.300A>C	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348167	0.41599	.	.	ENSG00000182261	ENST00000328600	T	0.80738	-1.41	4.85	-0.757	0.11054	.	0.543217	0.15558	N	0.256063	T	0.60818	0.2298	L	0.29908	0.895	0.23138	N	0.998238	B	0.06786	0.001	B	0.15870	0.014	T	0.37820	-0.9689	10	0.15952	T	0.53	.	2.1045	0.03688	0.1502:0.0885:0.3107:0.4505	.	100	Q86W26	NAL10_HUMAN	D	100	ENSP00000327763:E100D	ENSP00000327763:E100D	E	-	3	2	NLRP10	7939435	0.182000	0.23173	0.925000	0.36789	0.922000	0.55478	0.031000	0.13710	-0.210000	0.10140	0.533000	0.62120	GAA		0.493	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		19	45	0	0	0	1	0	19	45				
TTN	7273	broad.mit.edu	37	2	179457181	179457181	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179457181C>T	ENST00000591111.1	-	251	54852	c.54628G>A	c.(54628-54630)Gat>Aat	p.D18210N	TTN_ENST00000589042.1_Missense_Mutation_p.D19851N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17283N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10786N|TTN_ENST00000359218.5_Missense_Mutation_p.D10911N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10978N|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18210	Ig-like 105.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCCACCATCTTCATGGGCA	0.373																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(59551-59553)Gat>Aat		titin							215.0	201.0	205.0					2																	179457181		1872	4107	5979	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457181C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54628G>A	2.37:g.179457181C>T	ENSP00000465570:p.Asp18210Asn					TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10978N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10911N|TTN_ENST00000342992.6_Missense_Mutation_p.D17283N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10786N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18210N	p.D19851N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		301	59775	-			18210			Ig-like 110.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.59551G>A		.	.	.	.	.	.	.	.	.	.	C	15.58	2.877087	0.51801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92267	0.7547	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.92669	0.6148	9	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	10786;10911;10978;18210	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	17283;10786;10978;10911;10784	ENSP00000343764:D17283N;ENSP00000434586:D10786N;ENSP00000340554:D10978N;ENSP00000352154:D10911N	ENSP00000340554:D10978N	D	-	1	0	TTN	179165427	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.770000	0.85390	2.868000	0.98415	0.557000	0.71058	GAT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	91	0	0	0	1	0	41	91				
ZNF267	10308	broad.mit.edu	37	16	31925870	31925870	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31925870G>A	ENST00000300870.10	+	4	509	c.300G>A	c.(298-300)tcG>tcA	p.S100S	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	100					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGTGATATCGAGGAGACATG	0.368																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(298-300)tcG>tcA		zinc finger protein 267							98.0	97.0	97.0					16																	31925870		2197	4300	6497	SO:0001819	synonymous_variant	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31925870G>A	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.300G>A	16.37:g.31925870G>A						RP11-170L3.8_ENST00000575471.1_RNA|ZNF267_ENST00000394846.3_3'UTR	p.S100S	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	509	+			100					A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	ENST00000300870.10	37	c.300G>A	CCDS32440.1																																																																																				0.368	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		4	67	0	0	0	1	0	4	67				
DPP3	10072	broad.mit.edu	37	11	66259175	66259175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66259175C>T	ENST00000360510.2	+	9	1001	c.936C>T	c.(934-936)atC>atT	p.I312I	DPP3_ENST00000541961.1_Silent_p.I312I|DPP3_ENST00000531863.1_Silent_p.I332I|DPP3_ENST00000530165.1_Silent_p.I282I|DPP3_ENST00000453114.1_Silent_p.I312I|DPP3_ENST00000532677.1_Silent_p.I331I			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	312					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCAGTTACATCGGGTTCATCG	0.622																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(991-993)atC>atT		dipeptidyl-peptidase 3							134.0	136.0	135.0					11																	66259175		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259175C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.936C>T	11.37:g.66259175C>T						DPP3_ENST00000360510.2_Silent_p.I312I|DPP3_ENST00000453114.1_Silent_p.I312I|DPP3_ENST00000541961.1_Silent_p.I312I|DPP3_ENST00000530165.1_Silent_p.I282I|DPP3_ENST00000531863.1_Silent_p.I332I	p.I331I	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			9	1394	+			312					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.993C>T	CCDS8141.1																																																																																				0.622	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			65	128	0	0	0	1	0	65	128				
ZCCHC9	84240	broad.mit.edu	37	5	80600780	80600780	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:80600780A>C	ENST00000254037.2	+	1	3359	c.204A>C	c.(202-204)ttA>ttC	p.L68F	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.L68F|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.L68F|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.L68F|ZCCHC9_ENST00000506458.1_Intron			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	68					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AAGAGTACTTAAATGAAGATG	0.373																																						ENST00000254037.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13						c.(202-204)ttA>ttC		zinc finger, CCHC domain containing 9							73.0	74.0	73.0					5																	80600780		2203	4300	6503	SO:0001583	missense	84240						nucleic acid binding|zinc ion binding	g.chr5:80600780A>C	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.204A>C	5.37:g.80600780A>C	ENSP00000254037:p.Leu68Phe					ZCCHC9_ENST00000380199.5_Missense_Mutation_p.L68F|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.L68F|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.L68F	p.L68F			Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	1	3359	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	68					B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	c.204A>C	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183337	0.38511	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.18	-1.61	0.08399	.	0.346611	0.25514	N	0.030160	T	0.25680	0.0625	L	0.50333	1.59	0.20764	N	0.999857	P	0.45283	0.855	B	0.39068	0.289	T	0.38090	-0.9677	10	0.10902	T	0.67	-4.2563	5.9473	0.19225	0.329:0.2725:0.3985:0.0	.	68	Q8N567	ZCHC9_HUMAN	F	68	ENSP00000254037:L68F;ENSP00000385047:L68F;ENSP00000369546:L68F;ENSP00000412637:L68F	ENSP00000254037:L68F	L	+	3	2	ZCCHC9	80636536	0.316000	0.24580	0.996000	0.52242	0.980000	0.70556	0.596000	0.24044	0.049000	0.15920	-0.313000	0.08912	TTA		0.373	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		24	40	0	0	0	1	0	24	40				
CLSTN2	64084	broad.mit.edu	37	3	140281660	140281660	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:140281660C>A	ENST00000458420.3	+	14	2410	c.2220C>A	c.(2218-2220)ggC>ggA	p.G740G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	740					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAGGTGTGGGCTCCATGAGCC	0.567										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2218-2220)ggC>ggA		calsyntenin 2							51.0	50.0	51.0					3																	140281660		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281660C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2220C>A	3.37:g.140281660C>A		HNSCC(16;0.037)					p.G740G	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			14	2410	+			740					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.2220C>A	CCDS3112.1																																																																																				0.567	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		20	45	1	0	3.51602e-12	1	4.42195e-12	20	45				
VPS26A	9559	broad.mit.edu	37	10	70928317	70928317	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70928317A>C	ENST00000373382.1	+	9	1453	c.800A>C	c.(799-801)aAa>aCa	p.K267T	VPS26A_ENST00000263559.6_Missense_Mutation_p.K267T|VPS26A_ENST00000395098.1_Intron|VPS26A_ENST00000541711.1_Missense_Mutation_p.K156T|VPS26A_ENST00000489794.1_Intron|VPS26A_ENST00000546041.1_Missense_Mutation_p.K250T|VPS26A_ENST00000490696.1_3'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	267					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GTGAACAAAAAATTTTCAGTA	0.368																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(799-801)aAa>aCa		vacuolar protein sorting 26 homolog A (S. pombe)							92.0	97.0	96.0					10																	70928317		2203	4300	6503	SO:0001583	missense	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70928317A>C	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.800A>C	10.37:g.70928317A>C	ENSP00000362480:p.Lys267Thr					VPS26A_ENST00000546041.1_Missense_Mutation_p.K250T|VPS26A_ENST00000263559.6_Missense_Mutation_p.K267T|VPS26A_ENST00000541711.1_Missense_Mutation_p.K156T|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_Intron|VPS26A_ENST00000395098.1_Intron	p.K267T			O75436	VP26A_HUMAN			9	1453	+			267					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	ENST00000373382.1	37	c.800A>C	CCDS7286.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.988357	0.93106	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000546041;ENST00000541711	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.90198	3.095	0.80722	D	1	D;D	0.63880	0.993;0.986	D;P	0.74023	0.982;0.889	D	0.87077	0.2163	9	0.54805	T	0.06	-15.9811	14.8619	0.70387	1.0:0.0:0.0:0.0	.	250;267	F5H4L7;O75436	.;VP26A_HUMAN	T	267;267;250;156	.	ENSP00000263559:K267T	K	+	2	0	VPS26A	70598323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.283000	0.95860	1.986000	0.57962	0.460000	0.39030	AAA		0.368	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		28	39	0	0	0	1	0	28	39				
GLE1	2733	broad.mit.edu	37	9	131302553	131302553	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:131302553G>T	ENST00000309971.4	+	15	2070		c.e15-1		RP11-216B9.6_ENST00000426704.1_RNA|GLE1_ENST00000539582.1_Splice_Site|RP11-216B9.6_ENST00000434999.1_RNA	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator						mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCTCCCTGTAGAATTGAAGCT	0.493																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.e15-1		GLE1 RNA export mediator							211.0	170.0	184.0					9																	131302553		2203	4300	6503	SO:0001630	splice_region_variant	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131302553G>T	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1965-1G>T	9.37:g.131302553G>T						RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Splice_Site		NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			15	2070	+								O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Splice_Site	SNP	ENST00000309971.4	37		CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130173	0.77549	.	.	ENSG00000119392	ENST00000309971;ENST00000539582	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5677	0.84603	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLE1	130342374	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	8.894000	0.92506	2.652000	0.90054	0.655000	0.94253	.		0.493	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722	Intron	9	28	1	0	1.12685e-05	1	1.24509e-05	9	28				
TMPRSS13	84000	broad.mit.edu	37	11	117785214	117785214	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:117785214C>T	ENST00000430170.2	-	4	659	c.572G>A	c.(571-573)gGc>gAc	p.G191D	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G191D|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G191D|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.G156D|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G191D	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	191						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCCTGTGTGGCCCTGCCAGAA	0.587																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(466-468)gGc>gAc		transmembrane protease, serine 13							187.0	199.0	195.0					11																	117785214		2107	4232	6339	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117785214C>T	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.572G>A	11.37:g.117785214C>T	ENSP00000387702:p.Gly191Asp					TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G191D|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G191D|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G191D|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G191D	p.G156D	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	3	540	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	186					B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.467G>A	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152386	0.38021	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.88509	-2.39;-2.3;-2.3;-2.31;-2.21	5.85	4.95	0.65309	.	0.214865	0.32802	N	0.005634	D	0.91590	0.7343	L	0.60455	1.87	0.43003	D	0.994528	D;D	0.89917	1.0;0.996	D;P	0.74348	0.983;0.899	D	0.89045	0.3451	10	0.14252	T	0.57	.	12.461	0.55731	0.0:0.9218:0.0:0.0782	.	186;191	Q9BYE2-4;E9PRA0	.;.	D	156;186;191;191;191;191	ENSP00000435813:G156D;ENSP00000434279:G191D;ENSP00000387702:G191D;ENSP00000394114:G191D;ENSP00000436502:G191D	ENSP00000337113:G186D	G	-	2	0	TMPRSS13	117290424	0.855000	0.29742	0.999000	0.59377	0.026000	0.11368	1.717000	0.37991	1.499000	0.48617	-0.215000	0.12644	GGC		0.587	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		112	206	0	0	0	1	0	112	206				
SLC36A1	206358	broad.mit.edu	37	5	150858923	150858923	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150858923T>G	ENST00000243389.3	+	10	1255	c.1032T>G	c.(1030-1032)ttT>ttG	p.F344L	RNA5SP197_ENST00000363357.1_RNA|SLC36A1_ENST00000520701.1_Missense_Mutation_p.F344L|SLC36A1_ENST00000521925.1_Missense_Mutation_p.F344L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	344					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	TCGGGATCTTTTTCACCTACG	0.522																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(1030-1032)ttT>ttG		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						217.0	186.0	197.0					5																	150858923		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150858923T>G	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1032T>G	5.37:g.150858923T>G	ENSP00000243389:p.Phe344Leu					SLC36A1_ENST00000520701.1_Missense_Mutation_p.F344L|SLC36A1_ENST00000521925.1_Missense_Mutation_p.F344L	p.F344L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1255	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	344					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.1032T>G	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.464572	0.84425	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.01787	4.64;4.64;4.64;4.64	5.77	3.39	0.38822	.	0.095667	0.64402	D	0.000001	T	0.02610	0.0079	N	0.25890	0.77	0.47778	D	0.999512	B;B	0.31581	0.329;0.175	B;B	0.42851	0.4;0.162	T	0.61710	-0.7007	10	0.41790	T	0.15	.	11.1938	0.48700	0.0:0.8031:0.0:0.1969	.	344;344	E7EW39;Q7Z2H8	.;S36A1_HUMAN	L	344;344;344;344;103	ENSP00000428140:F344L;ENSP00000243389:F344L;ENSP00000430305:F344L;ENSP00000428738:F103L	ENSP00000243389:F344L	F	+	3	2	SLC36A1	150839116	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.440000	0.44855	1.229000	0.43630	0.459000	0.35465	TTT		0.522	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		23	58	0	0	0	1	0	23	58				
VIL1	7429	broad.mit.edu	37	2	219296879	219296879	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219296879G>A	ENST00000248444.5	+	12	1402	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	VIL1_ENST00000392114.2_Silent_p.K127K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	438	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGGCGAGAAGCAGCATTACC	0.572																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1312-1314)aaG>aaA		villin 1							86.0	65.0	72.0					2																	219296879		2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219296879G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1314G>A	2.37:g.219296879G>A						VIL1_ENST00000392114.2_Silent_p.K127K	p.K438K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1402	+		Renal(207;0.0474)	438			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.1314G>A	CCDS2417.1																																																																																				0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		18	28	0	0	0	1	0	18	28				
FAM3D	131177	broad.mit.edu	37	3	58639451	58639451	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:58639451C>T	ENST00000358781.2	-	3	381	c.71G>A	c.(70-72)cGa>cAa	p.R24Q		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	24					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CATGTAGCTTCGAATAAACAT	0.587																																						ENST00000358781.2																			0				large_intestine(1)|lung(2)	3						c.(70-72)cGa>cAa		family with sequence similarity 3, member D							138.0	132.0	134.0					3																	58639451		2203	4300	6503	SO:0001583	missense	131177				negative regulation of insulin secretion	extracellular region	cytokine activity	g.chr3:58639451C>T	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.71G>A	3.37:g.58639451C>T	ENSP00000351632:p.Arg24Gln						p.R24Q	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)	3	381	-			24					Q547G2	Missense_Mutation	SNP	ENST00000358781.2	37	c.71G>A	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	C	6.641	0.486658	0.12641	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000498347	T;T;T	0.50277	0.75;2.03;1.6	4.26	0.304	0.15796	.	0.464939	0.20236	N	0.096395	T	0.22859	0.0552	L	0.39898	1.24	0.09310	N	1	P	0.39352	0.669	B	0.21708	0.036	T	0.13098	-1.0522	10	0.18710	T	0.47	-13.5178	2.7769	0.05350	0.2045:0.4615:0.0:0.334	.	24	Q96BQ1	FAM3D_HUMAN	Q	24	ENSP00000351632:R24Q;ENSP00000417099:R24Q;ENSP00000418982:R24Q	ENSP00000351632:R24Q	R	-	2	0	FAM3D	58614491	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.200000	0.17257	0.169000	0.19679	0.435000	0.28638	CGA		0.587	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805		36	84	0	0	0	1	0	36	84				
ATP5B	506	broad.mit.edu	37	12	57039021	57039021	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57039021T>C	ENST00000262030.3	-	2	294	c.244A>G	c.(244-246)Att>Gtt	p.I82V	ATP5B_ENST00000550162.1_5'Flank|SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000552919.1_Missense_Mutation_p.I82V	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	82					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCATTTAGAATTGGTGGTAGT	0.542																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(244-246)Att>Gtt		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							88.0	92.0	91.0					12																	57039021		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57039021T>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.244A>G	12.37:g.57039021T>C	ENSP00000262030:p.Ile82Val					ATP5B_ENST00000552919.1_Missense_Mutation_p.I82V	p.I82V	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			2	294	-			82					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.244A>G	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.167439|4.167439	0.78339|0.78339	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000552104|ENST00000262030;ENST00000552919;ENST00000553007	.|D;D;D	.|0.88124	.|-2.34;-2.34;-2.34	5.11|5.11	5.11|5.11	0.69529|0.69529	.|ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	.|0.049208	.|0.85682	.|D	.|0.000000	.|D	.|0.88411	.|0.6429	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|B	.|0.20459	.|0.045	.|B	.|0.28784	.|0.094	.|D	.|0.86923	.|0.2068	.|10	.|0.62326	.|D	.|0.03	.|-6.7785	14.3022|14.3022	0.66359|0.66359	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|82	.|P06576	.|ATPB_HUMAN	.|V	-1|82	.|ENSP00000262030:I82V;ENSP00000450297:I82V;ENSP00000447571:I82V	.|ENSP00000262030:I82V	.|I	-|-	.|1	.|0	ATP5B|ATP5B	55325288|55325288	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.901000|0.901000	0.52897|0.52897	7.257000|7.257000	0.78362|0.78362	2.265000|2.265000	0.75225|0.75225	0.533000|0.533000	0.62120|0.62120	.|ATT		0.542	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		14	78	0	0	0	1	0	14	78				
DDX55	57696	broad.mit.edu	37	12	124102387	124102387	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124102387T>C	ENST00000238146.4	+	11	1182	c.1132T>C	c.(1132-1134)Tca>Cca	p.S378P	SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000421670.3_5'Flank|DDX55_ENST00000538744.1_Missense_Mutation_p.S347P|DDX55_ENST00000541259.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	378	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CATGGAAGAGTCATACATCAA	0.532											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000238146.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1132-1134)Tca>Cca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							107.0	98.0	101.0					12																	124102387		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124102387T>C	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1132T>C	12.37:g.124102387T>C	ENSP00000238146:p.Ser378Pro		OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Missense_Mutation_p.S347P	p.S378P	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	11	1182	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		378			Helicase C-terminal.		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.1132T>C	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047280	0.75846	.	.	ENSG00000111364	ENST00000238146;ENST00000538744	T;D	0.93547	3.54;-3.24	5.98	2.13	0.27403	Helicase, C-terminal (1);	0.218986	0.49305	D	0.000152	D	0.91392	0.7284	N	0.17872	0.535	0.80722	D	1	B;B;P	0.47034	0.001;0.0;0.889	B;B;P	0.54238	0.005;0.002;0.746	D	0.89559	0.3805	10	0.49607	T	0.09	-29.2701	14.6288	0.68640	0.0:0.0:0.4818:0.5182	.	378;378;347	B4DVE4;Q8NHQ9;F5H5U2	.;DDX55_HUMAN;.	P	378;347	ENSP00000238146:S378P;ENSP00000443114:S347P	ENSP00000238146:S378P	S	+	1	0	DDX55	122668340	1.000000	0.71417	0.915000	0.36163	0.993000	0.82548	1.187000	0.32090	0.109000	0.17891	0.533000	0.62120	TCA		0.532	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			6	60	0	0	0	1	0	6	60				
TCL1B	9623	broad.mit.edu	37	14	96157608	96157608	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96157608G>T	ENST00000340722.7	+	3	388	c.337G>T	c.(337-339)Gac>Tac	p.D113Y	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	113										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCTGCAGATTGACTCTATGGA	0.587																																						ENST00000340722.7																			0				cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(337-339)Gac>Tac		T-cell leukemia/lymphoma 1B							84.0	77.0	80.0					14																	96157608		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96157608G>T	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.337G>T	14.37:g.96157608G>T	ENSP00000343223:p.Asp113Tyr					RP11-1070N10.6_ENST00000461160.1_RNA	p.D113Y	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	3	388	+		all_cancers(154;0.103)	113					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.337G>T	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.814009	0.32053	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.32023	1.47	2.4	-1.12	0.09808	.	.	.	.	.	T	0.18551	0.0445	L	0.33485	1.01	0.09310	N	1	B	0.24618	0.107	B	0.23716	0.048	T	0.24584	-1.0156	9	0.41790	T	0.15	0.3292	2.9821	0.05956	0.1613:0.0:0.3827:0.456	.	113	O95988	TCL1B_HUMAN	Y	113	ENSP00000343223:D113Y	ENSP00000343223:D113Y	D	+	1	0	TCL1B	95227361	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.107000	0.10873	-0.249000	0.09569	0.313000	0.20887	GAC		0.587	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			18	24	1	0	0.00074312	1	0.000783089	18	24				
OR5D14	219436	broad.mit.edu	37	11	55563549	55563549	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55563549C>A	ENST00000335605.1	+	1	518	c.518C>A	c.(517-519)cCt>cAt	p.P173H		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	173						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)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCTCTGGACCTAATGTAATC	0.507																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(517-519)cCt>cAt		olfactory receptor, family 5, subfamily D, member 14							205.0	205.0	205.0					11																	55563549		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563549C>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.518C>A	11.37:g.55563549C>A	ENSP00000334456:p.Pro173His						p.P173H	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	518	+		all_epithelial(135;0.196)	173					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.518C>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	1.342	-0.593935	0.03771	.	.	ENSG00000186113	ENST00000335605	T	0.38077	1.16	5.08	-4.38	0.03622	GPCR, rhodopsin-like superfamily (1);	0.877470	0.09566	N	0.784771	T	0.20618	0.0496	N	0.25245	0.725	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.28839	-1.0031	10	0.62326	D	0.03	-0.6938	6.4154	0.21714	0.19:0.5987:0.0806:0.1307	.	173	Q8NGL3	OR5DE_HUMAN	H	173	ENSP00000334456:P173H	ENSP00000334456:P173H	P	+	2	0	OR5D14	55320125	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.396000	0.07278	-0.735000	0.04837	-1.161000	0.01788	CCT		0.507	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		51	109	1	0	1.07234e-20	1	1.47176e-20	51	109				
GRIK4	2900	broad.mit.edu	37	11	120852900	120852900	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120852900T>G	ENST00000527524.2	+	20	2768	c.2481T>G	c.(2479-2481)ttT>ttG	p.F827L	GRIK4_ENST00000438375.2_Missense_Mutation_p.F827L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	827					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TGTTGGAGTTTTTATGGACTC	0.433																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(2479-2481)ttT>ttG		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						211.0	213.0	212.0					11																	120852900		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120852900T>G	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2481T>G	11.37:g.120852900T>G	ENSP00000435648:p.Phe827Leu					GRIK4_ENST00000438375.2_Missense_Mutation_p.F827L	p.F827L			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	20	2768	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	827					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2481T>G	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593163	0.86953	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.15139	2.45;2.45	5.74	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.21761	0.0524	M	0.63843	1.955	0.58432	D	0.999998	P	0.48230	0.907	P	0.46208	0.507	T	0.00989	-1.1489	10	0.54805	T	0.06	.	8.3614	0.32361	0.0:0.1698:0.0:0.8302	.	827	Q16099	GRIK4_HUMAN	L	827	ENSP00000435648:F827L;ENSP00000404063:F827L	ENSP00000404063:F827L	F	+	3	2	GRIK4	120358110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.569000	0.45973	0.463000	0.27118	0.533000	0.62120	TTT		0.433	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		29	83	0	0	0	1	0	29	83				
TMCO2	127391	broad.mit.edu	37	1	40717052	40717052	+	Missense_Mutation	SNP	G	G	A	rs200048000		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40717052G>A	ENST00000372766.3	+	2	428	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	112						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R112Q(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AGTGGTCTCCGAATTCAAGAC	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17495	0.0		0.0	False		,,,				2504	0.0					ENST00000372766.3																			1	Substitution - Missense(1)	p.R112Q(1)	large_intestine(1)	kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(334-336)cGa>cAa		transmembrane and coiled-coil domains 2							83.0	86.0	85.0					1																	40717052		2203	4300	6503	SO:0001583	missense	127391					integral to membrane		g.chr1:40717052G>A	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.335G>A	1.37:g.40717052G>A	ENSP00000361852:p.Arg112Gln					TMCO2_ENST00000468258.1_3'UTR	p.R112Q	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		2	428	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	112						Missense_Mutation	SNP	ENST00000372766.3	37	c.335G>A	CCDS30684.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.983	-0.433700	0.04669	.	.	ENSG00000188800	ENST00000372766	.	.	.	4.81	0.0836	0.14434	.	1.131500	0.06539	N	0.742880	T	0.13500	0.0327	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28650	-1.0037	9	0.13108	T	0.6	-8.0E-4	6.1082	0.20086	0.5586:0.3058:0.1357:0.0	.	112	Q7Z6W1	TMCO2_HUMAN	Q	112	.	ENSP00000361852:R112Q	R	+	2	0	TMCO2	40489639	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	0.023000	0.13533	0.558000	0.29135	-0.451000	0.05528	CGA		0.368	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		28	44	0	0	0	1	0	28	44				
LARP1	23367	broad.mit.edu	37	5	154183841	154183841	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154183841G>T	ENST00000336314.4	+	14	2313	c.2289G>T	c.(2287-2289)gaG>gaT	p.E763D		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	840					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTCCCGTGAGCACAGGCCCC	0.567																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2287-2289)gaG>gaT		La ribonucleoprotein domain family, member 1							124.0	120.0	122.0					5																	154183841		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154183841G>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2289G>T	5.37:g.154183841G>T	ENSP00000336721:p.Glu763Asp						p.E763D	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		14	2313	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	840					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2289G>T	CCDS4328.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.65|16.65|16.65	3.181815|3.181815|3.181815	0.57800|0.57800|0.57800	.|.|.	.|.|.	ENSG00000155506|ENSG00000155506|ENSG00000155506	ENST00000522272|ENST00000336314|ENST00000518677	.|T|.	.|0.25912|.	.|1.77|.	6.17|6.17|6.17	3.11|3.11|3.11	0.35812|0.35812|0.35812	.|.|.	.|0.090794|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.48466|0.48466|0.48466	0.1501|0.1501|0.1501	L|L|L	0.27944|0.27944|0.27944	0.81|0.81|0.81	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|B;B|.	.|0.27765|.	.|0.188;0.038|.	.|B;B|.	.|0.27500|.	.|0.062;0.08|.	T|T|T	0.31052|0.31052|0.31052	-0.9957|-0.9957|-0.9957	5|10|5	.|0.21540|.	.|T|.	.|0.41|.	-20.0473|-20.0473|-20.0473	10.7352|10.7352|10.7352	0.46120|0.46120|0.46120	0.2298:0.0:0.7702:0.0|0.2298:0.0:0.7702:0.0|0.2298:0.0:0.7702:0.0	.|.|.	.|840;763|.	.|Q6PKG0;Q6PKG0-3|.	.|LARP1_HUMAN;.|.	S|D|I	21|763|154	.|ENSP00000336721:E763D|.	.|ENSP00000336721:E763D|.	A|E|S	+|+|+	1|3|2	0|2|0	LARP1|LARP1|LARP1	154164034|154164034|154164034	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.868000|0.868000|0.868000	0.49771|0.49771|0.49771	2.440000|2.440000|2.440000	0.44855|0.44855|0.44855	0.746000|0.746000|0.746000	0.32786|0.32786|0.32786	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GAG|AGC		0.567	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		38	75	1	0	1.56738e-10	1	1.93275e-10	38	75				
RBMX2	51634	broad.mit.edu	37	X	129545332	129545332	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129545332G>T	ENST00000305536.6	+	5	378	c.314G>T	c.(313-315)aGa>aTa	p.R105I	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	105	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						ATCAAAGGAAGAACTATCCGA	0.458																																						ENST00000305536.6																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(313-315)aGa>aTa		RNA binding motif protein, X-linked 2							152.0	139.0	143.0					X																	129545332		1921	4111	6032	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129545332G>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.314G>T	X.37:g.129545332G>T	ENSP00000339090:p.Arg105Ile					RBMX2_ENST00000469953.1_3'UTR	p.R105I	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN			5	378	+			105			RRM.		A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.314G>T	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560660	0.86335	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.79653	-1.29	5.13	5.13	0.70059	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92670	0.6149	10	0.87932	D	0	.	15.2568	0.73591	0.0:0.0:1.0:0.0	.	105	Q9Y388	RBMX2_HUMAN	I	105	ENSP00000339090:R105I	ENSP00000339090:R105I	R	+	2	0	RBMX2	129373013	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.487000	0.90454	2.281000	0.76405	0.529000	0.55759	AGA		0.458	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		6	97	1	0	0.00116845	1	0.00122532	6	97				
XYLT1	64131	broad.mit.edu	37	16	17202841	17202841	+	Missense_Mutation	SNP	C	C	T	rs531190343		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:17202841C>T	ENST00000261381.6	-	12	2675	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	864					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTAGGCATTGCGGAGGGGCCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18573	0.0		0.0	False		,,,				2504	0.001					ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2590-2592)cGc>cAc		xylosyltransferase I							82.0	84.0	84.0					16																	17202841		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17202841C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2591G>A	16.37:g.17202841C>T	ENSP00000261381:p.Arg864His						p.R864H	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			12	2675	-			864					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2591G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	8.874	0.950099	0.18431	.	.	ENSG00000103489	ENST00000261381	T	0.04603	3.59	5.81	3.78	0.43462	.	0.092458	0.64402	N	0.000002	T	0.09158	0.0226	L	0.47716	1.5	0.36623	D	0.875855	D	0.71674	0.998	P	0.57152	0.814	T	0.36939	-0.9727	10	0.25751	T	0.34	-25.6032	7.4505	0.27235	0.0:0.6458:0.0:0.3542	.	864	Q86Y38	XYLT1_HUMAN	H	864	ENSP00000261381:R864H	ENSP00000261381:R864H	R	-	2	0	XYLT1	17110342	1.000000	0.71417	0.952000	0.39060	0.069000	0.16628	2.600000	0.46240	1.361000	0.45981	0.655000	0.94253	CGC		0.567	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		20	42	0	0	0	1	0	20	42				
MAP3K4	4216	broad.mit.edu	37	6	161530819	161530819	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161530819T>C	ENST00000392142.4	+	23	4417	c.4269T>C	c.(4267-4269)gaT>gaC	p.D1423D	MAP3K4_ENST00000348824.7_Silent_p.D1369D|MAP3K4_ENST00000366919.2_Silent_p.D1373D|MAP3K4_ENST00000366920.2_Silent_p.D1419D	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1423	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGTACTGCGATGAGGGGACTT	0.458																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4267-4269)gaT>gaC		mitogen-activated protein kinase kinase kinase 4							140.0	125.0	130.0					6																	161530819		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161530819T>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4269T>C	6.37:g.161530819T>C						MAP3K4_ENST00000366919.2_Silent_p.D1373D|MAP3K4_ENST00000366920.2_Silent_p.D1419D|MAP3K4_ENST00000348824.7_Silent_p.D1369D	p.D1423D	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	23	4417	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1423			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.4269T>C	CCDS34565.1																																																																																				0.458	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			17	58	0	0	0	1	0	17	58				
TTN	7273	broad.mit.edu	37	2	179498763	179498763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179498763C>A	ENST00000591111.1	-	181	37764	c.37540G>T	c.(37540-37542)Gaa>Taa	p.E12514*	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E14155*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E11587*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5090*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5215*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E5282*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12514	Ig-like 83.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTCACCTTCTTTTACTGTT	0.358																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(42463-42465)Gaa>Taa		titin							134.0	126.0	129.0					2																	179498763		1867	4096	5963	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498763C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37540G>T	2.37:g.179498763C>A	ENSP00000465570:p.Glu12514*					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E5282*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5215*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E11587*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5090*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E12514*	p.E14155*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	42687	-			12514			Fibronectin type-III 2.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.42463G>T		.	.	.	.	.	.	.	.	.	.	C	57	28.048234	0.99972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3697	0.98890	0.0:1.0:0.0:0.0	.	.	.	.	X	11587;5090;5282;5215;5090	.	ENSP00000340554:E5282X	E	-	1	0	TTN	179207008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.767000	0.85331	2.811000	0.96726	0.655000	0.94253	GAA		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	58	1	0	3.01185e-09	1	3.60563e-09	27	58				
SEMA3A	10371	broad.mit.edu	37	7	83823879	83823879	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83823879G>A	ENST00000265362.4	-	1	338	c.24C>T	c.(22-24)gtC>gtT	p.V8V	SEMA3A_ENST00000436949.1_Silent_p.V8V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	8					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGAAAAGACAGACAATCCTAG	0.428																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(22-24)gtC>gtT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							173.0	169.0	170.0					7																	83823879		2203	4300	6503	SO:0001819	synonymous_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83823879G>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.24C>T	7.37:g.83823879G>A						SEMA3A_ENST00000436949.1_Silent_p.V8V	p.V8V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			1	338	-			8						Silent	SNP	ENST00000265362.4	37	c.24C>T	CCDS5599.1																																																																																				0.428	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		41	69	0	0	0	1	0	41	69				
MYPN	84665	broad.mit.edu	37	10	69881929	69881929	+	Missense_Mutation	SNP	C	C	T	rs143574079	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69881929C>T	ENST00000358913.5	+	2	1222	c.734C>T	c.(733-735)gCg>gTg	p.A245V	MYPN_ENST00000540630.1_Missense_Mutation_p.A245V|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.A245V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	245	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCAGTGAGGCGGCTGGTGGA	0.567																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(733-735)gCg>gTg		myopalladin							46.0	46.0	46.0					10																	69881929		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881929C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.734C>T	10.37:g.69881929C>T	ENSP00000351790:p.Ala245Val					MYPN_ENST00000373675.3_Missense_Mutation_p.A245V|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.A245V	p.A245V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			2	1222	+			245			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.734C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308148	0.23821	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.61510	0.43;0.41;0.1	5.74	2.81	0.32909	.	0.565017	0.19338	N	0.116739	T	0.27697	0.0681	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.09377	0.004;0.001	T	0.05338	-1.0891	9	.	.	.	.	1.6794	0.02829	0.1877:0.4638:0.1839:0.1647	.	245;245	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	V	245	ENSP00000351790:A245V;ENSP00000441668:A245V;ENSP00000362779:A245V	.	A	+	2	0	MYPN	69551935	0.409000	0.25368	0.444000	0.26895	0.969000	0.65631	1.341000	0.33907	1.366000	0.46076	0.655000	0.94253	GCG		0.567	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		19	38	0	0	0	1	0	19	38				
GPR34	2857	broad.mit.edu	37	X	41555424	41555424	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41555424A>G	ENST00000378142.4	+	3	822	c.538A>G	c.(538-540)Atg>Gtg	p.M180V	CASK_ENST00000378166.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.M180V|CASK_ENST00000378154.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	180					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TATAGTATGGATGCTTGCTCT	0.348																																						ENST00000378142.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(538-540)Atg>Gtg		G protein-coupled receptor 34							69.0	65.0	66.0					X																	41555424		2203	4300	6503	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555424A>G	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.538A>G	X.37:g.41555424A>G	ENSP00000367384:p.Met180Val					CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.M180V	p.M180V	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN			3	822	+			180					O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.538A>G	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.372781	0.01214	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.32988	1.43;1.43	5.96	-2.59	0.06209	GPCR, rhodopsin-like superfamily (1);	1.219840	0.05320	N	0.526466	T	0.15349	0.0370	N	0.10782	0.045	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.36311	-0.9753	10	0.02654	T	1	0.3675	13.6919	0.62550	0.5075:0.0:0.4925:0.0	.	180	Q9UPC5	GPR34_HUMAN	V	180;180;133	ENSP00000367384:M180V;ENSP00000367378:M180V	ENSP00000367378:M180V	M	+	1	0	GPR34	41440368	0.025000	0.19082	0.023000	0.16930	0.402000	0.30811	0.370000	0.20433	-0.479000	0.06813	-0.368000	0.07277	ATG		0.348	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		22	55	0	0	0	1	0	22	55				
ZNF676	163223	broad.mit.edu	37	19	22363533	22363533	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22363533C>A	ENST00000397121.2	-	3	1303	c.986G>T	c.(985-987)aGa>aTa	p.R329I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTC	0.408																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(985-987)aGa>aTa		zinc finger protein 676							64.0	69.0	67.0					19																	22363533		2152	4270	6422	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363533C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.986G>T	19.37:g.22363533C>A	ENSP00000380310:p.Arg329Ile						p.R329I	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1303	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	329					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.986G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	2.492	-0.317184	0.05386	.	.	ENSG00000196109	ENST00000397121	T	0.02446	4.29	0.85	-0.442	0.12253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	M	0.72479	2.2	0.38982	D	0.958968	B	0.06786	0.001	B	0.04013	0.001	T	0.27502	-1.0072	9	0.32370	T	0.25	.	4.5685	0.12198	0.0:0.5185:0.0:0.4815	.	329	Q8N7Q3	ZN676_HUMAN	I	329	ENSP00000380310:R329I	ENSP00000380310:R329I	R	-	2	0	ZNF676	22155373	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-5.109000	0.00150	0.192000	0.20272	0.195000	0.17529	AGA		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		8	78	1	0	9.31168e-06	1	1.03131e-05	8	78				
CMYA5	202333	broad.mit.edu	37	5	79028699	79028699	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79028699G>T	ENST00000446378.2	+	2	4142	c.4111G>T	c.(4111-4113)Gaa>Taa	p.E1371*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1371					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCAGTAAAAGAAGAAATCCC	0.383																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4111-4113)Gaa>Taa		cardiomyopathy associated 5							37.0	37.0	37.0					5																	79028699		1848	4094	5942	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79028699G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4111G>T	5.37:g.79028699G>T	ENSP00000394770:p.Glu1371*						p.E1371*	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4142	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1371					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.4111G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	38	6.734478	0.97801	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.62	2.89	0.33648	.	0.402757	0.21465	N	0.074100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	8.5767	0.33603	0.2424:0.0:0.7576:0.0	.	.	.	.	X	1371	.	ENSP00000394770:E1371X	E	+	1	0	CMYA5	79064455	0.236000	0.23804	0.025000	0.17156	0.003000	0.03518	0.679000	0.25291	0.874000	0.35823	-0.137000	0.14449	GAA		0.383	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		15	16	1	0	3.27435e-08	1	3.83577e-08	15	16				
HYKK	123688	broad.mit.edu	37	15	78805633	78805633	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78805633A>G	ENST00000569878.1	+	1	203	c.203A>G	c.(202-204)aAc>aGc	p.N68S	HYKK_ENST00000408962.2_Missense_Mutation_p.N68S|HYKK_ENST00000360519.3_Missense_Mutation_p.N68S|HYKK_ENST00000388988.4_Missense_Mutation_p.N68S|HYKK_ENST00000566332.1_Missense_Mutation_p.N68S|HYKK_ENST00000563233.1_Missense_Mutation_p.N68S			A2RU49	HYKK_HUMAN	hydroxylysine kinase	68						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										AAAATAAGCAACACCAAGGCT	0.438																																						ENST00000566332.1																			0											c.(202-204)aAc>aGc		hydroxylysine kinase							116.0	112.0	113.0					15																	78805633		1919	4139	6058	SO:0001583	missense	123688							g.chr15:78805633A>G	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"""5-hydroxylysine kinase"""	614681	"""aminoglycoside phosphotransferase domain containing 1"""	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.203A>G	15.37:g.78805633A>G	ENSP00000455459:p.Asn68Ser					HYKK_ENST00000408962.2_Missense_Mutation_p.N68S|HYKK_ENST00000388988.4_Missense_Mutation_p.N68S|HYKK_ENST00000360519.3_Missense_Mutation_p.N68S|HYKK_ENST00000569878.1_Missense_Mutation_p.N68S|HYKK_ENST00000563233.1_Missense_Mutation_p.N68S	p.N68S							2	263	+								B7ZMA5|F8W6X5|Q6ZTN0	Missense_Mutation	SNP	ENST00000569878.1	37	c.203A>G	CCDS42063.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.531493	0.64972	.	.	ENSG00000188266	ENST00000408962;ENST00000388988;ENST00000360519	T;T;T	0.31510	1.49;1.49;1.49	5.83	4.71	0.59529	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	M	0.84511	2.7	0.54753	D	0.999988	D;D	0.89917	0.977;1.0	D;D	0.97110	0.954;1.0	T	0.63756	-0.6565	10	0.87932	D	0	1.7704	11.755	0.51870	0.9315:0.0:0.0685:0.0	.	68;68	A2RU49;A2RU49-3	AGPD1_HUMAN;.	S	68	ENSP00000386197:N68S;ENSP00000373640:N68S;ENSP00000353710:N68S	ENSP00000353710:N68S	N	+	2	0	AGPHD1	76592688	1.000000	0.71417	0.976000	0.42696	0.659000	0.38960	8.022000	0.88759	1.041000	0.40125	-0.250000	0.11733	AAC		0.438	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435834.1	NM_001013619		34	73	0	0	0	1	0	34	73				
SND1	27044	broad.mit.edu	37	7	127721475	127721475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127721475C>T	ENST00000354725.3	+	18	2226	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	678					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GGAGAAGGAGCGATCTGCTAG	0.592																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2032-2034)Cga>Tga		staphylococcal nuclease and tudor domain containing 1							164.0	110.0	128.0					7																	127721475		2203	4300	6503	SO:0001587	stop_gained	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127721475C>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2032C>T	7.37:g.127721475C>T	ENSP00000346762:p.Arg678*						p.R678*	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			18	2226	+			678					Q13122|Q96AG0	Nonsense_Mutation	SNP	ENST00000354725.3	37	c.2032C>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	39	7.619242	0.98393	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	.	.	.	5.54	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7234	11.5235	0.50565	0.3257:0.6743:0.0:0.0	.	.	.	.	X	678;668;164	.	ENSP00000346762:R678X	R	+	1	2	SND1	127508711	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	3.437000	0.52863	1.436000	0.47453	0.561000	0.74099	CGA		0.592	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		13	18	0	0	0	1	0	13	18				
TRBV19	28568	broad.mit.edu	37	7	142326879	142326879	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142326879G>A	ENST00000390393.3	+	0	385									T cell receptor beta variable 19																		AGGACCCAGGGCAAGGGCTGA	0.473																																						ENST00000390393.3																			0																				169.0	168.0	168.0					7																	142326879		1942	4135	6077			0							g.chr7:142326879G>A	U48260		7q34	2012-02-07			ENSG00000211746	ENSG00000211746		"""T cell receptors / TRB locus"""	12194	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV17S1A1T, TCRBV19S1			OTTHUMG00000158877		7.37:g.142326879G>A														0	385	+									RNA	SNP	ENST00000390393.3	37																																																																																						0.473	TRBV19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352485.2	NG_001333		86	137	0	0	0	1	0	86	137				
CALCOCO1	57658	broad.mit.edu	37	12	54115392	54115392	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54115392G>T	ENST00000550804.1	-	6	677	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.S206Y|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.S173Y|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.S206Y|CALCOCO1_ENST00000547885.1_5'Flank			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	206					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						ATGGGACCGGGAAATCCCCTG	0.542																																						ENST00000548263.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(616-618)tCc>tAc		calcium binding and coiled-coil domain 1							240.0	235.0	237.0					12																	54115392		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54115392G>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.617C>A	12.37:g.54115392G>T	ENSP00000449960:p.Ser206Tyr					CALCOCO1_ENST00000262059.4_Missense_Mutation_p.S206Y|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.S173Y|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.S206Y	p.S206Y			Q9P1Z2	CACO1_HUMAN			6	665	-			206					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.617C>A	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569108	0.65765	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.0	5.0	0.66597	.	0.179894	0.27402	N	0.019523	T	0.11623	0.0283	N	0.22421	0.69	0.36758	D	0.883112	P;B;B;B;B;B	0.43938	0.822;0.268;0.25;0.429;0.268;0.295	B;B;B;B;P;B	0.44732	0.378;0.361;0.173;0.421;0.459;0.266	T	0.10291	-1.0636	10	0.66056	D	0.02	-6.2025	15.6131	0.76744	0.0:0.0:1.0:0.0	.	199;173;206;206;173;206	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	Y	173;206;144;206;206;199;83	ENSP00000397189:S173Y;ENSP00000262059:S206Y;ENSP00000447647:S206Y;ENSP00000449960:S206Y	ENSP00000262059:S206Y	S	-	2	0	CALCOCO1	52401659	1.000000	0.71417	0.995000	0.50966	0.651000	0.38670	4.126000	0.57937	2.482000	0.83794	0.563000	0.77884	TCC		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		7	327	1	0	0.00198382	1	0.00207034	7	327				
DNAJC10	54431	broad.mit.edu	37	2	183621186	183621186	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183621186G>T	ENST00000264065.7	+	18	2214	c.1799G>T	c.(1798-1800)aGa>aTa	p.R600I		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	600	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATGGAAAAGAATGGCCCGG	0.338																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1798-1800)aGa>aTa		DnaJ (Hsp40) homolog, subfamily C, member 10							69.0	66.0	67.0					2																	183621186		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183621186G>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1799G>T	2.37:g.183621186G>T	ENSP00000264065:p.Arg600Ile						p.R600I	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		18	2214	+			600			Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1799G>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247653	0.95305	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.40225	1.04	6.17	6.17	0.99709	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.048674	0.64402	D	0.000001	T	0.56819	0.2011	L	0.49571	1.57	0.80722	D	1	P;D	0.56968	0.951;0.978	P;D	0.63703	0.807;0.917	T	0.54186	-0.8331	10	0.59425	D	0.04	.	14.4074	0.67090	0.0749:0.0:0.9251:0.0	.	554;600	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	I	600;554	ENSP00000264065:R600I	ENSP00000264065:R600I	R	+	2	0	DNAJC10	183329431	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.391000	0.73208	2.941000	0.99782	0.655000	0.94253	AGA		0.338	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		21	31	1	0	4.35082e-09	1	5.20082e-09	21	31				
SSUH2	51066	broad.mit.edu	37	3	8667970	8667970	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8667970C>T	ENST00000317371.4	-	16	1871	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	SSUH2_ENST00000415132.1_Missense_Mutation_p.A216T|SSUH2_ENST00000544814.1_Missense_Mutation_p.A238T|SSUH2_ENST00000341795.3_Missense_Mutation_p.A216T			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	216	Cys-rich.					cytoplasm (GO:0005737)											TTGCAGGTGGCGCAGGTCTTG	0.572																																						ENST00000317371.4																			0											c.(646-648)Gcc>Acc		ssu-2 homolog (C. elegans)							225.0	183.0	197.0					3																	8667970		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8667970C>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.646G>A	3.37:g.8667970C>T	ENSP00000324551:p.Ala216Thr					SSUH2_ENST00000415132.1_Missense_Mutation_p.A216T|SSUH2_ENST00000544814.1_Missense_Mutation_p.A238T|SSUH2_ENST00000341795.3_Missense_Mutation_p.A216T	p.A216T							16	1871	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.646G>A	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943314	0.18281	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.43294	0.98;0.98;0.95;0.99	4.91	3.12	0.35913	.	0.584960	0.18356	N	0.143702	T	0.35595	0.0937	M	0.65975	2.015	0.31562	N	0.657391	B;B	0.27971	0.196;0.196	B;B	0.26517	0.07;0.07	T	0.36138	-0.9760	10	0.14252	T	0.57	-24.3147	7.659	0.28392	0.0:0.803:0.0:0.197	.	238;216	F5H2S5;Q9Y2M2	.;CC032_HUMAN	T	216;216;216;238	ENSP00000339150:A216T;ENSP00000324551:A216T;ENSP00000410757:A216T;ENSP00000439378:A238T	ENSP00000324551:A216T	A	-	1	0	C3orf32	8642970	0.831000	0.29352	0.986000	0.45419	0.629000	0.37895	0.447000	0.21710	0.494000	0.27859	-0.216000	0.12614	GCC		0.572	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		53	102	0	0	0	1	0	53	102				
SNX27	81609	broad.mit.edu	37	1	151633298	151633298	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151633298A>C	ENST00000458013.2	+	4	881	c.761A>C	c.(760-762)gAg>gCg	p.E254A	SNX27_ENST00000368843.3_Missense_Mutation_p.E254A|SNX27_ENST00000368838.1_Missense_Mutation_p.E161A			Q96L92	SNX27_HUMAN	sorting nexin family member 27	254	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTAATTGGTGAGAGTGACATC	0.348																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(760-762)gAg>gCg		sorting nexin family member 27							208.0	204.0	205.0					1																	151633298		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151633298A>C	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.761A>C	1.37:g.151633298A>C	ENSP00000400333:p.Glu254Ala					SNX27_ENST00000368838.1_Missense_Mutation_p.E161A|SNX27_ENST00000458013.2_Missense_Mutation_p.E254A	p.E254A	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	881	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		254			PX.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.761A>C		.	.	.	.	.	.	.	.	.	.	A	24.9	4.579868	0.86645	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.39787	1.06;1.06;1.06	5.3	5.3	0.74995	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.983	T	0.56245	-0.8011	10	0.40728	T	0.16	.	14.2151	0.65788	1.0:0.0:0.0:0.0	.	254;254	Q96L92;Q96L92-3	SNX27_HUMAN;.	A	254;254;161	ENSP00000400333:E254A;ENSP00000357836:E254A;ENSP00000357831:E161A	ENSP00000357831:E161A	E	+	2	0	SNX27	149899922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.451000	0.90343	2.228000	0.72767	0.528000	0.53228	GAG		0.348	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		9	50	0	0	0	1	0	9	50				
CXorf38	159013	broad.mit.edu	37	X	40498296	40498296	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:40498296C>T	ENST00000327877.5	-	3	462	c.436G>A	c.(436-438)Gat>Aat	p.D146N	CXorf38_ENST00000378426.1_Missense_Mutation_p.D27N|CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378421.1_Missense_Mutation_p.D27N	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	146										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ACGAAGTGATCGCAGGAGTTG	0.493																																						ENST00000378426.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						c.(79-81)Gat>Aat		chromosome X open reading frame 38							180.0	118.0	139.0					X																	40498296		2203	4300	6503	SO:0001583	missense	159013							g.chrX:40498296C>T	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.436G>A	X.37:g.40498296C>T	ENSP00000330488:p.Asp146Asn					CXorf38_ENST00000378421.1_Missense_Mutation_p.D27N|CXorf38_ENST00000327877.5_Missense_Mutation_p.D146N|CXorf38_ENST00000440784.2_Intron	p.D27N			Q8TB03	CX038_HUMAN			2	676	-			146					B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	c.79G>A	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093577	0.76756	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421	T;T;T	0.47177	0.85;0.85;0.85	4.25	4.25	0.50352	.	0.364923	0.25683	N	0.028987	T	0.63486	0.2515	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.64676	-0.6351	10	0.46703	T	0.11	-17.3174	14.909	0.70740	0.0:1.0:0.0:0.0	.	146	Q8TB03	CX038_HUMAN	N	27;146;27	ENSP00000367683:D27N;ENSP00000330488:D146N;ENSP00000367677:D27N	ENSP00000330488:D146N	D	-	1	0	CXorf38	40383240	0.988000	0.35896	0.996000	0.52242	0.986000	0.74619	2.517000	0.45529	2.108000	0.64289	0.597000	0.82753	GAT		0.493	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		18	35	0	0	0	1	0	18	35				
GOLGA7	51125	broad.mit.edu	37	8	41355133	41355133	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41355133T>G	ENST00000357743.4	+	2	418	c.217T>G	c.(217-219)Tta>Gta	p.L73V	GOLGA7_ENST00000520817.1_Missense_Mutation_p.L73V|GOLGA7_ENST00000518270.1_Missense_Mutation_p.L73V|GOLGA7_ENST00000405786.2_Missense_Mutation_p.L73V	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7	73					Golgi to plasma membrane protein transport (GO:0043001)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGCTTGTTTAACAGCATA	0.388																																						ENST00000357743.4																			0				breast(1)|large_intestine(1)	2						c.(217-219)Tta>Gta		golgin A7							156.0	157.0	156.0					8																	41355133		2203	4300	6503	SO:0001583	missense	51125					Golgi membrane		g.chr8:41355133T>G	AF125102	CCDS34887.1, CCDS55226.1	8p11.21	2011-10-25	2010-02-12		ENSG00000147533	ENSG00000147533			24876	protein-coding gene	gene with protein product		609453	"""golgi autoantigen, golgin subfamily a, 7"""			11042152	Standard	NM_001174124		Approved	GCP16, HSPC041, GOLGA3AP1, GOLGA7A	uc003xnu.3	Q7Z5G4	OTTHUMG00000164077	ENST00000357743.4:c.217T>G	8.37:g.41355133T>G	ENSP00000350378:p.Leu73Val					GOLGA7_ENST00000405786.2_Missense_Mutation_p.L73V|GOLGA7_ENST00000520817.1_Missense_Mutation_p.L73V|GOLGA7_ENST00000518270.1_Missense_Mutation_p.L73V	p.L73V	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		2	418	+	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	73					D3DSX9|J3KQ24|Q96EQ4|Q9P1S0|Q9Y5U7	Missense_Mutation	SNP	ENST00000357743.4	37	c.217T>G	CCDS34887.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.474642	0.43942	.	.	ENSG00000147533	ENST00000518270;ENST00000520817;ENST00000405786;ENST00000357743	.	.	.	5.65	3.26	0.37387	Golgin subfamily A member 7/ERF4 (1);	0.063520	0.64402	D	0.000010	T	0.62332	0.2419	M	0.71581	2.175	0.45718	D	0.998625	B	0.21071	0.051	B	0.34093	0.175	T	0.57230	-0.7847	9	0.44086	T	0.13	-1.6705	8.9687	0.35892	0.0:0.2266:0.0:0.7734	.	73	Q7Z5G4	GOGA7_HUMAN	V	73	.	ENSP00000276530:L73V	L	+	1	2	GOLGA7	41474290	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.042000	0.30303	0.417000	0.25871	0.528000	0.53228	TTA		0.388	GOLGA7-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377142.1	NM_016099		46	79	0	0	0	1	0	46	79				
FGD4	121512	broad.mit.edu	37	12	32772699	32772699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32772699C>T	ENST00000427716.2	+	11	1830	c.1406C>T	c.(1405-1407)aCc>aTc	p.T469I	FGD4_ENST00000525053.1_Missense_Mutation_p.T581I|FGD4_ENST00000534526.2_Missense_Mutation_p.T606I|FGD4_ENST00000266482.3_Missense_Mutation_p.T221I|FGD4_ENST00000546442.1_Missense_Mutation_p.T376I|FGD4_ENST00000381025.3_Missense_Mutation_p.T221I|FGD4_ENST00000531134.1_Missense_Mutation_p.T554I	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	469	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACAGTTCGAACCAGGGTTGGC	0.413																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1405-1407)aCc>aTc		FYVE, RhoGEF and PH domain containing 4							127.0	121.0	123.0					12																	32772699		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32772699C>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1406C>T	12.37:g.32772699C>T	ENSP00000394487:p.Thr469Ile					FGD4_ENST00000525053.1_Missense_Mutation_p.T581I|FGD4_ENST00000546442.1_Missense_Mutation_p.T376I|FGD4_ENST00000266482.3_Missense_Mutation_p.T221I|FGD4_ENST00000531134.1_Missense_Mutation_p.T554I|FGD4_ENST00000534526.2_Missense_Mutation_p.T606I|FGD4_ENST00000381025.3_Missense_Mutation_p.T221I	p.T469I	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			11	1830	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		469			PH 1.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1406C>T	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604460	0.46423	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;T	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-1.28	5.67	3.8	0.43715	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.122405	0.36519	N	0.002555	D	0.91395	0.7285	L	0.55834	1.745	0.51482	D	0.999927	B;B;D;D	0.62365	0.198;0.11;0.977;0.991	B;B;P;P	0.61722	0.215;0.155;0.893;0.877	D	0.90970	0.4819	10	0.66056	D	0.02	-7.8961	12.7419	0.57257	0.1313:0.7427:0.126:0.0	.	581;554;469;221	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	I	606;554;469;221;376;581;221	ENSP00000449273:T606I;ENSP00000431323:T554I;ENSP00000394487:T469I;ENSP00000266482:T221I;ENSP00000446695:T376I;ENSP00000433666:T581I;ENSP00000370413:T221I	ENSP00000266482:T221I	T	+	2	0	FGD4	32663966	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.598000	0.54038	0.695000	0.31675	-0.165000	0.13383	ACC		0.413	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		29	64	0	0	0	1	0	29	64				
METTL17	64745	broad.mit.edu	37	14	21460309	21460309	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21460309C>T	ENST00000339374.6	+	4	624	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000382985.4_Missense_Mutation_p.R131C|METTL17_ENST00000556670.2_Missense_Mutation_p.R131C	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	131					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGAGAAACTTCGTGGAGCAGT	0.483																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(391-393)Cgt>Tgt		methyltransferase like 17							105.0	108.0	107.0					14																	21460309		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21460309C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.391C>T	14.37:g.21460309C>T	ENSP00000343041:p.Arg131Cys					METTL17_ENST00000556670.2_Missense_Mutation_p.R131C|METTL17_ENST00000382985.4_Missense_Mutation_p.R131C|METTL17_ENST00000555177.1_3'UTR	p.R131C	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			4	624	+			131					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.391C>T	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511527	0.27036	.	.	ENSG00000165792	ENST00000339374;ENST00000382985;ENST00000553564;ENST00000554751;ENST00000554283;ENST00000555670	T;T;T	0.34859	1.37;1.34;1.89	5.74	2.92	0.33932	.	0.807365	0.11210	N	0.587840	T	0.21347	0.0514	N	0.21448	0.665	0.36925	D	0.89157	B;B;B	0.26147	0.143;0.063;0.104	B;B;B	0.18561	0.022;0.007;0.015	T	0.16247	-1.0409	10	0.62326	D	0.03	.	2.9428	0.05836	0.1456:0.5581:0.141:0.1552	.	131;131;131	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	C	131;131;49;49;169;49	ENSP00000343041:R131C;ENSP00000372445:R131C;ENSP00000451478:R49C	ENSP00000343041:R131C	R	+	1	0	METTL17	20530149	0.185000	0.23213	0.228000	0.23943	0.459000	0.32528	0.488000	0.22371	0.352000	0.24053	0.650000	0.86243	CGT		0.483	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		32	57	0	0	0	1	0	32	57				
CRIPT	9419	broad.mit.edu	37	2	46851312	46851312	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46851312G>A	ENST00000238892.3	+	5	384	c.252G>A	c.(250-252)gcG>gcA	p.A84A	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	84					cytoplasmic microtubule organization (GO:0031122)|establishment of protein localization (GO:0045184)|protein localization to microtubule (GO:0035372)|regulation of postsynaptic density protein 95 clustering (GO:1902897)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	microtubule binding (GO:0008017)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)			kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCATCTGTGCGATGTGTGGAA	0.328																																						ENST00000238892.3																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(250-252)gcG>gcA		cysteine-rich PDZ-binding protein							92.0	96.0	95.0					2																	46851312		2203	4299	6502	SO:0001819	synonymous_variant	9419					cell junction|cytoplasm|dendritic spine		g.chr2:46851312G>A	AA165108	CCDS1829.1	2p21	2008-02-05			ENSG00000119878	ENSG00000119878			14312	protein-coding gene	gene with protein product		604594				16091592, 11744724, 10570482, 9581762	Standard	NM_014171		Approved	HSPC139	uc002rve.3	Q9P021	OTTHUMG00000128815	ENST00000238892.3:c.252G>A	2.37:g.46851312G>A						CRIPT_ENST00000486447.1_3'UTR	p.A84A	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		5	384	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	84						Silent	SNP	ENST00000238892.3	37	c.252G>A	CCDS1829.1																																																																																				0.328	CRIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250748.1	NM_014171		10	37	0	0	0	1	0	10	37				
TRAK2	66008	broad.mit.edu	37	2	202257694	202257694	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202257694G>A	ENST00000332624.3	-	10	1479	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	351	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GATCTACTACGAAGTTCCTTT	0.388																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1051-1053)Cgt>Tgt		trafficking protein, kinesin binding 2							118.0	120.0	119.0					2																	202257694		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202257694G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1051C>T	2.37:g.202257694G>A	ENSP00000328875:p.Arg351Cys						p.R351C	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			10	1479	-			351	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1051C>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821354	0.90873	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.28454	1.61	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65401	-0.6177	10	0.87932	D	0	.	16.5402	0.84383	0.0:0.0:1.0:0.0	.	351	O60296	TRAK2_HUMAN	C	351;257	ENSP00000328875:R351C	ENSP00000328875:R351C	R	-	1	0	TRAK2	201965939	1.000000	0.71417	0.974000	0.42286	0.979000	0.70002	5.456000	0.66665	2.631000	0.89168	0.655000	0.94253	CGT		0.388	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		15	8	0	0	0	1	0	15	8				
OTUD6B	51633	broad.mit.edu	37	8	92090712	92090712	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92090712A>C	ENST00000285420.4	+	4	633	c.534A>C	c.(532-534)gaA>gaC	p.E178D	OTUD6B_ENST00000404789.3_Missense_Mutation_p.E47D	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	148	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GACAGTTAGAAATTAAACAGA	0.398																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(532-534)gaA>gaC		OTU domain containing 6B							67.0	62.0	64.0					8																	92090712		2202	4300	6502	SO:0001583	missense	51633							g.chr8:92090712A>C		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.534A>C	8.37:g.92090712A>C	ENSP00000285420:p.Glu178Asp					OTUD6B_ENST00000404789.3_Missense_Mutation_p.E47D	p.E178D	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		4	633	+			148			OTU.		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.534A>C	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	A	13.83	2.355174	0.41700	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	T;T	0.43688	0.94;0.94	6.06	1.01	0.19927	Ovarian tumour, otubain (1);	0.047999	0.85682	D	0.000000	T	0.40272	0.1110	M	0.80028	2.48	0.38261	D	0.94187	B;P	0.36789	0.305;0.57	B;B	0.35114	0.119;0.196	T	0.38457	-0.9660	10	0.21014	T	0.42	-21.1526	10.729	0.46085	0.5917:0.0:0.4083:0.0	.	47;148	B4DEY0;Q8N6M0	.;OTU6B_HUMAN	D	178;47	ENSP00000285420:E178D;ENSP00000384190:E47D	ENSP00000285420:E178D	E	+	3	2	OTUD6B	92159888	0.999000	0.42202	0.997000	0.53966	0.943000	0.58893	0.664000	0.25068	0.188000	0.20168	0.528000	0.53228	GAA		0.398	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		11	14	0	0	0	1	0	11	14				
TOR1AIP1	26092	broad.mit.edu	37	1	179869292	179869292	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179869292C>T	ENST00000606911.2	+	4	833	c.642C>T	c.(640-642)ttC>ttT	p.F214F	TOR1AIP1_ENST00000528443.2_Silent_p.F215F|RN7SL230P_ENST00000580835.1_RNA|TOR1AIP1_ENST00000271583.3_Silent_p.F215F|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000435319.4_Silent_p.F93F			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	214					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AGGTCAATTTCTCTGAAGAAG	0.279																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(640-642)ttC>ttT		torsin A interacting protein 1							46.0	48.0	47.0					1																	179869292		2200	4296	6496	SO:0001819	synonymous_variant	26092					integral to membrane|nuclear inner membrane		g.chr1:179869292C>T		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.642C>T	1.37:g.179869292C>T						TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Silent_p.F215F	p.F214F	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			4	833	+			214					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	c.642C>T	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	C	0.164	-1.078500	0.01903	.	.	ENSG00000143337	ENST00000527391	.	.	.	3.84	-0.0623	0.13781	.	.	.	.	.	T	0.29524	0.0736	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.27640	-1.0068	4	.	.	.	-1.1529	6.2353	0.20760	0.0:0.5556:0.0:0.4444	.	.	.	.	F	91	.	.	L	+	1	0	TOR1AIP1	178135915	0.099000	0.21834	0.029000	0.17559	0.291000	0.27294	0.146000	0.16180	-0.001000	0.14495	0.655000	0.94253	CTC		0.279	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		12	9	0	0	0	1	0	12	9				
ITPR2	3709	broad.mit.edu	37	12	26775334	26775334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:26775334C>A	ENST00000381340.3	-	25	3543	c.3127G>T	c.(3127-3129)Gaa>Taa	p.E1043*	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1043					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.E1043*(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGATTTTTTTCTTTTCTATAA	0.373																																						ENST00000381340.3																		ETV6/ITPR2(2)	1	Substitution - Nonsense(1)	p.E1043*(1)	large_intestine(1)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(3127-3129)Gaa>Taa		inositol 1,4,5-trisphosphate receptor, type 2							70.0	70.0	70.0					12																	26775334		1839	4093	5932	SO:0001587	stop_gained	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26775334C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3127G>T	12.37:g.26775334C>A	ENSP00000370744:p.Glu1043*					ITPR2_ENST00000545902.1_5'UTR	p.E1043*	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			25	3543	-	Colorectal(261;0.0847)		1043					O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	c.3127G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	46	12.766245	0.99694	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.11	5.11	0.69529	.	0.093586	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	18.7307	0.91734	0.0:1.0:0.0:0.0	.	.	.	.	X	1043	.	ENSP00000370744:E1043X	E	-	1	0	ITPR2	26666601	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.481000	0.81124	2.659000	0.90383	0.650000	0.86243	GAA		0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	5	1	0	3.59834e-05	1	3.93264e-05	6	5				
FPR2	2358	broad.mit.edu	37	19	52271959	52271959	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52271959C>A	ENST00000598776.1	+	2	820	c.48C>A	c.(46-48)tcC>tcA	p.S16S	FPR2_ENST00000598953.1_Silent_p.S16S|FPR2_ENST00000340023.6_Silent_p.S16S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	16					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AAGAAGTGTCCTATGAGTCTG	0.517																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(46-48)tcC>tcA		formyl peptide receptor 2							158.0	134.0	142.0					19																	52271959		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52271959C>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.48C>A	19.37:g.52271959C>A						FPR2_ENST00000340023.6_Silent_p.S16S|FPR2_ENST00000598953.1_Silent_p.S16S	p.S16S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	820	+			16					A8K3E2	Silent	SNP	ENST00000598776.1	37	c.48C>A	CCDS12840.1																																																																																				0.517	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		24	50	1	0	4.4004e-07	1	5.01286e-07	24	50				
ATP2B3	492	broad.mit.edu	37	X	152845520	152845520	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152845520G>A	ENST00000349466.2	+	21	3753	c.3427G>A	c.(3427-3429)Gcc>Acc	p.A1143T	ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A1143T			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1143					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACTTCATGGCCACGCCCGA	0.592																																						ENST00000263519.4																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(3427-3429)Gcc>Acc		ATPase, Ca++ transporting, plasma membrane 3							170.0	148.0	155.0					X																	152845520		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152845520G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3427G>A	X.37:g.152845520G>A	ENSP00000343886:p.Ala1143Thr					ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.A1143T|ATP2B3_ENST00000370181.2_3'UTR	p.A1143T	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN			20	3553	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1143					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.3427G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	g	4.545	0.101192	0.08731	.	.	ENSG00000067842	ENST00000349466;ENST00000263519	T;T	0.75589	-0.95;-0.95	5.02	4.0	0.46444	.	0.377508	0.25708	N	0.028827	T	0.39759	0.1090	N	0.02202	-0.64	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.32745	-0.9895	10	0.05620	T	0.96	-5.4007	4.0493	0.09788	0.6215:0.0:0.3785:0.0	.	1129;1143	Q16720-4;Q16720	.;AT2B3_HUMAN	T	1143	ENSP00000343886:A1143T;ENSP00000263519:A1143T	ENSP00000263519:A1143T	A	+	1	0	ATP2B3	152498714	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	2.534000	0.45676	0.835000	0.34877	0.525000	0.51046	GCC		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		92	220	0	0	0	1	0	92	220				
ADRA2B	151	broad.mit.edu	37	2	96780585	96780585	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96780585C>T	ENST00000409345.3	-	1	1399	c.1304G>A	c.(1303-1305)cGg>cAg	p.R435Q		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	435					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGGATCCTCCGGAAGGCACG	0.632																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(1303-1305)cGg>cAg		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						29.0	36.0	33.0					2																	96780585		2146	4254	6400	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780585C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1304G>A	2.37:g.96780585C>T	ENSP00000387281:p.Arg435Gln						p.R435Q	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	1399	-			438					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.1304G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235052	0.58886	.	.	ENSG00000222040	ENST00000409345	T	0.39406	1.08	5.75	5.75	0.90469	.	.	.	.	.	T	0.26231	0.0640	N	0.10760	0.04	0.38389	D	0.945344	P	0.34892	0.474	B	0.32022	0.139	T	0.17440	-1.0369	9	0.36615	T	0.2	.	17.5004	0.87730	0.0:1.0:0.0:0.0	.	438	P18089	ADA2B_HUMAN	Q	435	ENSP00000387281:R435Q	ENSP00000387281:R435Q	R	-	2	0	ADRA2B	96144312	0.969000	0.33509	0.962000	0.40283	0.992000	0.81027	2.152000	0.42272	2.731000	0.93534	0.650000	0.86243	CGG		0.632	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			13	17	0	0	0	1	0	13	17				
CASP7	840	broad.mit.edu	37	10	115489079	115489079	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115489079C>T	ENST00000345633.4	+	8	1076	c.692C>T	c.(691-693)tCg>tTg	p.S231L	CASP7_ENST00000369315.1_Missense_Mutation_p.S231L|CASP7_ENST00000369321.2_Missense_Mutation_p.S264L|CASP7_ENST00000452490.2_Missense_Mutation_p.S206L|CASP7_ENST00000369331.4_Missense_Mutation_p.R220C|CASP7_ENST00000369318.3_Missense_Mutation_p.S231L	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	231					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GGCTATTACTCGTGGAGGAGC	0.507																																						ENST00000369321.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(790-792)tCg>tTg		caspase 7, apoptosis-related cysteine peptidase							93.0	100.0	98.0					10																	115489079		2203	4300	6503	SO:0001583	missense	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115489079C>T	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.692C>T	10.37:g.115489079C>T	ENSP00000298701:p.Ser231Leu					CASP7_ENST00000369331.4_Missense_Mutation_p.R220C|CASP7_ENST00000452490.2_Missense_Mutation_p.S206L|CASP7_ENST00000369315.1_Missense_Mutation_p.S231L|CASP7_ENST00000345633.4_Missense_Mutation_p.S231L|CASP7_ENST00000369318.3_Missense_Mutation_p.S231L	p.S264L	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	8	1111	+		Colorectal(252;0.0946)|Breast(234;0.188)	231					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	c.791C>T	CCDS7581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.815489|4.815489	0.90790|0.90790	.|.	.|.	ENSG00000165806|ENSG00000165806	ENST00000369331|ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369315;ENST00000452490	T|T;T;T;T;T	0.08282|0.39056	3.11|1.1;1.1;1.1;1.1;1.1	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69424|0.69424	0.3109|0.3109	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|D;D;D;D	0.65815|0.89917	0.995|1.0;1.0;1.0;1.0	P|D;D;D;D	0.50708|0.91635	0.648|0.998;0.992;0.998;0.999	T|T	0.71771|0.71771	-0.4492|-0.4492	8|9	0.72032|0.87932	D|D	0.01|0	.|.	20.1731|20.1731	0.98165|0.98165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	220|206;239;264;231	P55210-2|B4DQU7;B4DWA2;P55210-3;P55210	.|.;.;.;CASP7_HUMAN	C|L	220|264;231;231;192;231;206	ENSP00000358337:R220C|ENSP00000358327:S264L;ENSP00000298701:S231L;ENSP00000358324:S231L;ENSP00000358321:S231L;ENSP00000398107:S206L	ENSP00000358337:R220C|ENSP00000298701:S231L	R|S	+|+	1|2	0|0	CASP7|CASP7	115479069|115479069	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.416000|0.416000	0.31233|0.31233	7.770000|7.770000	0.85390|0.85390	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.507	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		26	56	0	0	0	1	0	26	56				
VENTX	27287	broad.mit.edu	37	10	135053551	135053551	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135053551C>A	ENST00000325980.9	+	3	1029	c.518C>A	c.(517-519)tCt>tAt	p.S173Y		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	173					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TACTCAACGTCTTCTGGCCTT	0.637																																						ENST00000325980.9																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14						c.(517-519)tCt>tAt		VENT homeobox							45.0	48.0	47.0					10																	135053551		2203	4300	6503	SO:0001583	missense	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053551C>A	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.518C>A	10.37:g.135053551C>A	ENSP00000357556:p.Ser173Tyr						p.S173Y	NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	3	1029	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	173					Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	c.518C>A	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795183	0.31777	.	.	ENSG00000151650	ENST00000325980	D	0.91740	-2.9	2.23	2.23	0.28157	.	3.055110	0.01238	U	0.008529	D	0.87386	0.6164	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	P	0.49140	0.601	T	0.80367	-0.1412	10	0.12430	T	0.62	.	7.9136	0.29806	0.0:1.0:0.0:0.0	.	173	O95231	VENTX_HUMAN	Y	173	ENSP00000357556:S173Y	ENSP00000357556:S173Y	S	+	2	0	VENTX	134903541	0.004000	0.15560	0.002000	0.10522	0.014000	0.08584	0.859000	0.27858	1.258000	0.44101	0.385000	0.25706	TCT		0.637	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		24	48	1	0	2.21704e-12	1	2.79328e-12	24	48				
PCDHB14	56122	broad.mit.edu	37	5	140603677	140603677	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140603677A>C	ENST00000239449.4	+	1	600	c.600A>C	c.(598-600)ttA>ttC	p.L200F	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L47F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	200	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGAGCTTTAGATTATGAAC	0.443																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(598-600)ttA>ttC									74.0	77.0	76.0					5																	140603677		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603677A>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.600A>C	5.37:g.140603677A>C	ENSP00000239449:p.Leu200Phe					PCDHB14_ENST00000515856.2_Missense_Mutation_p.L47F	p.L200F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	600	+			200			Cadherin 2.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.600A>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	13.37	2.216999	0.39201	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.74737	-0.87;-0.87	5.03	-0.504	0.11997	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90031	0.6887	H	0.98918	4.37	0.33808	D	0.627457	D	0.76494	0.999	D	0.71870	0.975	D	0.90626	0.4563	9	0.87932	D	0	.	10.7992	0.46478	0.5504:0.0:0.4496:0.0	.	200	Q9Y5E9	PCDBE_HUMAN	F	47;200	ENSP00000444518:L47F;ENSP00000239449:L200F	ENSP00000239449:L200F	L	+	3	2	PCDHB14	140583861	0.007000	0.16637	0.105000	0.21289	0.406000	0.30931	-0.753000	0.04792	-0.203000	0.10251	0.533000	0.62120	TTA		0.443	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		36	53	0	0	0	1	0	36	53				
CNGB1	1258	broad.mit.edu	37	16	57950065	57950065	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57950065G>A	ENST00000251102.8	-	22	2245	c.2185C>T	c.(2185-2187)Cga>Tga	p.R729*	CNGB1_ENST00000564448.1_Nonsense_Mutation_p.R723*	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	729					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TAGTTATTTCGCATGTCCTTT	0.512																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2167-2169)Cga>Tga		cyclic nucleotide gated channel beta 1							131.0	129.0	130.0					16																	57950065		1951	4137	6088	SO:0001587	stop_gained	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57950065G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2185C>T	16.37:g.57950065G>A	ENSP00000251102:p.Arg729*					CNGB1_ENST00000251102.8_Nonsense_Mutation_p.R729*	p.R723*			Q14028	CNGB1_HUMAN			22	2227	-			729					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Nonsense_Mutation	SNP	ENST00000251102.8	37	c.2167C>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	40	8.088751	0.98648	.	.	ENSG00000070729	ENST00000251102	.	.	.	5.14	1.77	0.24775	.	0.068062	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.673	0.51413	0.0:0.0:0.3667:0.6333	.	.	.	.	X	729	.	ENSP00000251102:R729X	R	-	1	2	CNGB1	56507566	1.000000	0.71417	0.945000	0.38365	0.944000	0.59088	1.057000	0.30492	0.683000	0.31428	0.655000	0.94253	CGA		0.512	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		39	64	0	0	0	1	0	39	64				
ELL2	22936	broad.mit.edu	37	5	95242363	95242363	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95242363G>T	ENST00000237853.4	-	5	954	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	202					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGGCCTCTGAGAGATGGTGCT	0.488																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(604-606)tCt>tAt		elongation factor, RNA polymerase II, 2							181.0	166.0	171.0					5																	95242363		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95242363G>T	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.605C>A	5.37:g.95242363G>T	ENSP00000237853:p.Ser202Tyr					ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	p.S202Y	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	5	954	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	202					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.605C>A	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095010	0.76870	.	.	ENSG00000118985	ENST00000237853	T	0.33216	1.42	5.83	5.83	0.93111	.	0.158705	0.64402	D	0.000017	T	0.59307	0.2184	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.57877	-0.7735	10	0.49607	T	0.09	-2.8901	19.7203	0.96139	0.0:0.0:1.0:0.0	.	202	O00472	ELL2_HUMAN	Y	202	ENSP00000237853:S202Y	ENSP00000237853:S202Y	S	-	2	0	ELL2	95268119	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.399000	0.59703	2.758000	0.94735	0.591000	0.81541	TCT		0.488	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		17	100	1	0	1.15088e-07	1	1.32965e-07	17	100				
GRIPAP1	56850	broad.mit.edu	37	X	48839393	48839393	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48839393C>T	ENST00000376441.1	-	17	1631	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E488K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E502K|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.E480K|GRIPAP1_ENST00000473581.1_5'UTR	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	533						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAACTCACCTCGGCTTCCTTC	0.557																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(1438-1440)Gag>Aag		GRIP1 associated protein 1							82.0	62.0	69.0					X																	48839393		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48839393C>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1597G>A	X.37:g.48839393C>T	ENSP00000365624:p.Glu533Lys					GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E502K|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E533K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E488K|GRIPAP1_ENST00000473581.1_5'UTR	p.E480K	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN			16	1470	-			533					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.1438G>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	-	13.34	2.207914	0.39003	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.41	4.41	0.53225	.	0.000000	0.64402	U	0.000004	T	0.42765	0.1217	L	0.43923	1.385	0.40982	D	0.984787	D;D;D	0.76494	0.998;0.999;0.999	D;D;P	0.78314	0.932;0.991;0.845	T	0.23797	-1.0178	10	0.07644	T	0.81	-4.0765	15.0941	0.72220	0.0:1.0:0.0:0.0	.	480;423;533	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	K	502;488;533;502;480	ENSP00000365608:E502K;ENSP00000365627:E488K;ENSP00000365624:E533K;ENSP00000365606:E480K	ENSP00000365606:E480K	E	-	1	0	GRIPAP1	48724337	1.000000	0.71417	0.999000	0.59377	0.282000	0.26991	6.770000	0.74990	1.795000	0.52594	0.393000	0.25936	GAG		0.557	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		13	35	0	0	0	1	0	13	35				
PHF6	84295	broad.mit.edu	37	X	133527538	133527538	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133527538C>A	ENST00000332070.3	+	4	450	c.248C>A	c.(247-249)tCt>tAt	p.S83Y	PHF6_ENST00000370800.4_Missense_Mutation_p.S83Y|PHF6_ENST00000416404.2_Missense_Mutation_p.S49Y|PHF6_ENST00000370799.1_Missense_Mutation_p.S83Y|PHF6_ENST00000394292.1_Missense_Mutation_p.S83Y|PHF6_ENST00000370803.3_Missense_Mutation_p.S83Y	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	83	Extended PHD1 domain (ePHD1).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAGATGTGTTCTTTGTGCCAT	0.368			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	ENST00000332070.3				Rec	yes		X	Xq26.3	84295	"""F, N, Splice, Mis"""	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(247-249)tCt>tAt		PHD finger protein 6							204.0	177.0	186.0					X																	133527538		2203	4300	6503	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133527538C>A	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.248C>A	X.37:g.133527538C>A	ENSP00000329097:p.Ser83Tyr					PHF6_ENST00000416404.2_Missense_Mutation_p.S49Y|PHF6_ENST00000370803.3_Missense_Mutation_p.S83Y|PHF6_ENST00000370800.4_Missense_Mutation_p.S83Y|PHF6_ENST00000370799.1_Missense_Mutation_p.S83Y|PHF6_ENST00000394292.1_Missense_Mutation_p.S83Y	p.S83Y	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN			4	450	+	Acute lymphoblastic leukemia(192;0.000127)		83					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.248C>A	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880054	0.72294	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.15	5.15	0.70609	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.050577	0.85682	D	0.000000	T	0.78666	0.4319	L	0.58969	1.84	0.80722	D	1	D;B;D;D;D	0.76494	0.995;0.242;0.996;0.996;0.999	D;B;D;D;D	0.69824	0.929;0.326;0.948;0.948;0.966	T	0.73748	-0.3885	10	0.07030	T	0.85	-13.2134	16.9007	0.86113	0.0:1.0:0.0:0.0	.	49;83;83;83;83	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	Y	83;83;83;83;49;83	ENSP00000359839:S83Y;ENSP00000329097:S83Y;ENSP00000377831:S83Y;ENSP00000359835:S83Y;ENSP00000394480:S49Y;ENSP00000359836:S83Y	ENSP00000329097:S83Y	S	+	2	0	PHF6	133355204	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	2.284000	0.76573	0.523000	0.50628	TCT		0.368	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		40	60	1	0	9.39024e-22	1	1.29924e-21	40	60				
SLFN11	91607	broad.mit.edu	37	17	33690361	33690361	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33690361T>G	ENST00000394566.1	-	4	738	c.466A>C	c.(466-468)Agg>Cgg	p.R156R	SLFN11_ENST00000308377.4_Silent_p.R156R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	156					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTGGCTTCCTTTTGGTCTTC	0.483																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(466-468)Agg>Cgg		schlafen family member 11							92.0	94.0	93.0					17																	33690361		2203	4300	6503	SO:0001819	synonymous_variant	91607					nucleus	ATP binding	g.chr17:33690361T>G	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.466A>C	17.37:g.33690361T>G						SLFN11_ENST00000308377.4_Silent_p.R156R	p.R156R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	738	-		Ovarian(249;0.17)	156					E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	c.466A>C	CCDS11294.1																																																																																				0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		38	72	0	0	0	1	0	38	72				
MUC16	94025	broad.mit.edu	37	19	9049889	9049889	+	Missense_Mutation	SNP	G	G	A	rs368049820		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9049889G>A	ENST00000397910.4	-	5	31945	c.31742C>T	c.(31741-31743)cCg>cTg	p.P10581L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10583	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGAATAACCGGACTTCTCTC	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31741-31743)cCg>cTg		mucin 16, cell surface associated			LEU/PRO	0,3770		0,0,1885	125.0	116.0	119.0		31742	2.0	0.0	19		119	2,8204		0,2,4101	no	missense	MUC16	NM_024690.2	98	0,2,5986	AA,AG,GG		0.0244,0.0,0.0167	possibly-damaging	10581/14508	9049889	2,11974	1885	4103	5988	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049889G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31742C>T	19.37:g.9049889G>A	ENSP00000381008:p.Pro10581Leu						p.P10581L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	31945	-			10583			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31742C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.733	0.504039	0.12822	0.0	2.44E-4	ENSG00000181143	ENST00000397910	T	0.03212	4.01	3.01	1.96	0.26148	.	.	.	.	.	T	0.03095	0.0091	L	0.40543	1.245	.	.	.	P	0.42161	0.772	B	0.33042	0.157	T	0.30909	-0.9962	8	0.87932	D	0	.	6.1626	0.20372	0.1417:0.0:0.8583:0.0	.	10581	B5ME49	.	L	10581	ENSP00000381008:P10581L	ENSP00000381008:P10581L	P	-	2	0	MUC16	8910889	0.006000	0.16342	0.001000	0.08648	0.002000	0.02628	1.630000	0.37081	0.818000	0.34468	0.450000	0.29827	CCG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		47	55	0	0	0	1	0	47	55				
GDPD2	54857	broad.mit.edu	37	X	69652184	69652184	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69652184G>T	ENST00000374382.3	+	13	1586	c.1335G>T	c.(1333-1335)gtG>gtT	p.V445V	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.V366V|GDPD2_ENST00000536730.1_Silent_p.V366V|GDPD2_ENST00000453994.2_Silent_p.V496V	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	445	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ATGTCTCGGTGAACCTATTTG	0.537																																						ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(1486-1488)gtG>gtT		glycerophosphodiester phosphodiesterase domain containing 2							217.0	185.0	196.0					X																	69652184		2203	4300	6503	SO:0001819	synonymous_variant	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69652184G>T	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1335G>T	X.37:g.69652184G>T						GDPD2_ENST00000536730.1_Silent_p.V366V|GDPD2_ENST00000374382.3_Silent_p.V445V|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.V366V	p.V496V	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN			14	1849	+	Renal(35;0.156)		445					B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	ENST00000374382.3	37	c.1488G>T	CCDS14402.1																																																																																				0.537	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		42	89	1	0	1.91658e-06	1	2.15367e-06	42	89				
KIRREL	55243	broad.mit.edu	37	1	158064879	158064879	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158064879G>A	ENST00000359209.6	+	15	2310	c.2243G>A	c.(2242-2244)cGa>cAa	p.R748Q	KIRREL_ENST00000392272.2_Missense_Mutation_p.R645Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R648Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R584Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R764Q|KIRREL_ENST00000368172.1_Missense_Mutation_p.R562Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	748					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACGGCCAGCGATTCCAGCAG	0.607																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1684-1686)cGa>cAa		kin of IRRE like (Drosophila)							38.0	35.0	36.0					1																	158064879		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064879G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2243G>A	1.37:g.158064879G>A	ENSP00000352138:p.Arg748Gln					KIRREL_ENST00000359209.6_Missense_Mutation_p.R748Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R584Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R645Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R648Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R764Q	p.R562Q			Q96J84	KIRR1_HUMAN			11	1697	+	all_hematologic(112;0.0378)		748					Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1685G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	33	5.253209	0.95336	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.77750	-0.12;-1.12;-0.5;-0.74;-0.66;-0.31	5.64	5.64	0.86602	.	0.000000	0.36740	N	0.002427	T	0.78848	0.4348	L	0.29908	0.895	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.79108	0.859;0.992;0.988;0.992	T	0.80360	-0.1415	10	0.52906	T	0.07	-13.7666	17.1975	0.86897	0.0:0.0:1.0:0.0	.	648;584;562;748	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	Q	584;764;645;748;648;562	ENSP00000353202:R584Q;ENSP00000357155:R764Q;ENSP00000376098:R645Q;ENSP00000352138:R748Q;ENSP00000389674:R648Q;ENSP00000357154:R562Q	ENSP00000352138:R748Q	R	+	2	0	KIRREL	156331503	1.000000	0.71417	0.928000	0.36995	0.972000	0.66771	4.958000	0.63660	2.655000	0.90218	0.655000	0.94253	CGA		0.607	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		11	20	0	0	0	1	0	11	20				
ARHGAP11A	9824	broad.mit.edu	37	15	32929515	32929515	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32929515T>G	ENST00000361627.3	+	12	3263	c.2541T>G	c.(2539-2541)tcT>tcG	p.S847S	ARHGAP11A_ENST00000543522.1_Silent_p.S658S|ARHGAP11A_ENST00000565905.1_Silent_p.S658S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	847					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAATTAATTCTTTGTTGGAGT	0.408																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2539-2541)tcT>tcG		Rho GTPase activating protein 11A							121.0	128.0	125.0					15																	32929515		2201	4300	6501	SO:0001819	synonymous_variant	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929515T>G	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2541T>G	15.37:g.32929515T>G						ARHGAP11A_ENST00000543522.1_Silent_p.S658S|ARHGAP11A_ENST00000565905.1_Silent_p.S658S	p.S847S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	3263	+		all_lung(180;1.3e-11)	847					B4DZN9|Q6PI96|Q9Y3S6	Silent	SNP	ENST00000361627.3	37	c.2541T>G	CCDS10028.1																																																																																				0.408	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		40	54	0	0	0	1	0	40	54				
SLC8A1	6546	broad.mit.edu	37	2	40655715	40655715	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40655715T>C	ENST00000403092.1	-	2	1739	c.1706A>G	c.(1705-1707)aAt>aGt	p.N569S	SLC8A1_ENST00000405269.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.N569S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000406785.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.N569S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.N569S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	569	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AACGATAACATTTCCTCGAGC	0.453																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1705-1707)aAt>aGt		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						132.0	134.0	133.0					2																	40655715		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655715T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1706A>G	2.37:g.40655715T>C	ENSP00000384763:p.Asn569Ser					SLC8A1_ENST00000408028.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.N569S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.N569S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.N569S	p.N569S			P32418	NAC1_HUMAN			2	1895	-			569			Calx-beta 2.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1706A>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	9.273	1.046100	0.19748	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.87	4.7	0.59300	Na-Ca exchanger/integrin-beta4 (2);	0.186771	0.64402	D	0.000017	T	0.13670	0.0331	N	0.05199	-0.095	0.36952	D	0.892896	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.001	T	0.10683	-1.0619	10	0.36615	T	0.2	.	6.5757	0.22564	0.0:0.0814:0.1582:0.7604	.	569;569;569;569;569	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	S	569	ENSP00000383886:N569S;ENSP00000440727:N569S;ENSP00000384763:N569S;ENSP00000385678:N569S;ENSP00000385188:N569S;ENSP00000385535:N569S;ENSP00000332931:N569S;ENSP00000384908:N569S;ENSP00000385811:N569S;ENSP00000443515:N569S	ENSP00000332931:N569S	N	-	2	0	SLC8A1	40509219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.922000	0.48860	2.371000	0.80710	0.533000	0.62120	AAT		0.453	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		20	63	0	0	0	1	0	20	63				
TET1	80312	broad.mit.edu	37	10	70332337	70332337	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70332337G>A	ENST00000373644.4	+	2	451	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	81					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.R81H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGAGCAGCACGCATGAATTTG	0.438																																						ENST00000373644.4																			1	Substitution - Missense(1)	p.R81H(1)	endometrium(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(241-243)cGc>cAc		tet methylcytosine dioxygenase 1							67.0	72.0	71.0					10																	70332337		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332337G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.242G>A	10.37:g.70332337G>A	ENSP00000362748:p.Arg81His						p.R81H	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	451	+			81					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.242G>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685868	0.68157	.	.	ENSG00000138336	ENST00000373644	T	0.09911	2.93	5.24	4.33	0.51752	.	0.000000	0.43747	D	0.000528	T	0.17789	0.0427	L	0.32530	0.975	0.33018	D	0.528499	D	0.76494	0.999	P	0.59056	0.851	T	0.12319	-1.0552	10	0.48119	T	0.1	.	12.3149	0.54951	0.0793:0.0:0.9207:0.0	.	81	Q8NFU7	TET1_HUMAN	H	81	ENSP00000362748:R81H	ENSP00000362748:R81H	R	+	2	0	TET1	70002343	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	5.958000	0.70330	1.203000	0.43233	0.563000	0.77884	CGC		0.438	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		38	85	0	0	0	1	0	38	85				
ITPKB	3707	broad.mit.edu	37	1	226924334	226924334	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:226924334C>A	ENST00000272117.3	-	1	825	c.826G>T	c.(826-828)Gac>Tac	p.D276Y	ITPKB_ENST00000366784.1_Missense_Mutation_p.D276Y|ITPKB_ENST00000429204.1_Missense_Mutation_p.D276Y			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	276					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCCCTTTTGTCAATTTCCATA	0.587																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(826-828)Gac>Tac		inositol-trisphosphate 3-kinase B							42.0	47.0	45.0					1																	226924334		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924334C>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.826G>T	1.37:g.226924334C>A	ENSP00000272117:p.Asp276Tyr					ITPKB_ENST00000272117.3_Missense_Mutation_p.D276Y|ITPKB_ENST00000366784.1_Missense_Mutation_p.D276Y	p.D276Y	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	1153	-		Prostate(94;0.0773)	276					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.826G>T	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425483	0.62733	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.25749	1.81;1.81;1.78	4.3	2.31	0.28768	.	0.700841	0.13033	N	0.419112	T	0.15565	0.0375	N	0.24115	0.695	0.09310	N	1	P	0.40476	0.718	B	0.39465	0.3	T	0.12142	-1.0559	10	0.62326	D	0.03	.	4.0934	0.09980	0.0:0.5622:0.2133:0.2245	.	276	P27987	IP3KB_HUMAN	Y	276	ENSP00000272117:D276Y;ENSP00000411152:D276Y;ENSP00000355748:D276Y	ENSP00000272117:D276Y	D	-	1	0	ITPKB	224990957	0.000000	0.05858	0.790000	0.31976	0.667000	0.39255	0.083000	0.14871	1.027000	0.39758	0.561000	0.74099	GAC		0.587	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		27	47	1	0	6.32553e-13	1	8.04352e-13	27	47				
SCN1A	6323	broad.mit.edu	37	2	166848303	166848303	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166848303A>C	ENST00000303395.4	-	26	5481	c.5482T>G	c.(5482-5484)Tta>Gta	p.L1828V	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1817V|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1800V|SCN1A_ENST00000423058.2_Missense_Mutation_p.L1828V|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1828					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACTGAGATAATTTTTCAAAT	0.468																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5482-5484)Tta>Gta		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						125.0	126.0	125.0					2																	166848303		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848303A>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5482T>G	2.37:g.166848303A>C	ENSP00000303540:p.Leu1828Val					AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1800V|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1817V|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1828V	p.L1828V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5499	-			1828					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5482T>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260849	0.59431	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97811	-4.55;-4.55;-4.51;-4.49	5.79	1.63	0.23807	.	0.000000	0.48286	D	0.000195	D	0.98333	0.9447	M	0.84585	2.705	0.42575	D	0.993199	D	0.65815	0.995	D	0.80764	0.994	D	0.97857	1.0278	10	0.87932	D	0	.	8.8234	0.35041	0.5336:0.0:0.4664:0.0	.	1817	P35498-2	.	V	1828;1828;1817;1800	ENSP00000407030:L1828V;ENSP00000303540:L1828V;ENSP00000364554:L1817V;ENSP00000386312:L1800V	ENSP00000303540:L1828V	L	-	1	2	SCN1A	166556549	0.994000	0.37717	0.852000	0.33557	0.942000	0.58702	1.271000	0.33098	0.243000	0.21327	-0.417000	0.06048	TTA		0.468	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		48	78	0	0	0	1	0	48	78				
ZBTB38	253461	broad.mit.edu	37	3	141162802	141162802	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141162802T>G	ENST00000514251.1	+	4	1851	c.1572T>G	c.(1570-1572)acT>acG	p.T524T	ZBTB38_ENST00000321464.5_Silent_p.T525T|ZBTB38_ENST00000441582.2_Silent_p.T524T					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTCTTGAAACTTTCATGACCT	0.383																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(1570-1572)acT>acG		zinc finger and BTB domain containing 38							79.0	74.0	76.0					3																	141162802		1876	4108	5984	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141162802T>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1572T>G	3.37:g.141162802T>G						ZBTB38_ENST00000441582.2_Silent_p.T524T|ZBTB38_ENST00000321464.5_Silent_p.T525T	p.T524T			Q8NAP3	ZBT38_HUMAN			4	1851	+			524						Silent	SNP	ENST00000514251.1	37	c.1572T>G	CCDS43157.1																																																																																				0.383	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			25	38	0	0	0	1	0	25	38				
CD302	9936	broad.mit.edu	37	2	160637474	160637474	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160637474T>G	ENST00000259053.4	-	3	257	c.214A>C	c.(214-216)Aat>Cat	p.N72H	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N1657H|CD302_ENST00000480212.1_5'UTR|CD302_ENST00000429078.2_Missense_Mutation_p.N72H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.N1713H|LY75_ENST00000553424.1_Missense_Mutation_p.N1657H|LY75_ENST00000554112.1_Missense_Mutation_p.N1713H	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	72	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						ATAAAAGCATTTTCTTCTTCA	0.343																																						ENST00000504764.1																			0											c.(5137-5139)Aat>Cat									124.0	115.0	118.0					2																	160637474		2203	4300	6503	SO:0001583	missense	0				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160637474T>G	AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"""CD molecules"", ""C-type lectin domain containing"""	30843	protein-coding gene	gene with protein product	"""C-type lectin domain family 13, member A"""	612246	"""CD302 antigen"""			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.214A>C	2.37:g.160637474T>G	ENSP00000259053:p.Asn72His					CD302_ENST00000480212.1_5'UTR|CD302_ENST00000259053.4_Missense_Mutation_p.N72H|CD302_ENST00000429078.2_Missense_Mutation_p.N72H|LY75_ENST00000554112.1_Missense_Mutation_p.N1713H|LY75_ENST00000553424.1_Missense_Mutation_p.N1657H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N1657H	p.N1713H	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN			36	5164	-			1581					A8K5G4|B4E2T9|Q15009	Missense_Mutation	SNP	ENST00000259053.4	37	c.5137A>C	CCDS33308.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113358	0.77210	.	.	ENSG00000241399;ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000429078;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	5.33	5.33	0.75918	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.81802	2.56	0.29136	N	0.879354	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.989;0.977;0.977;1.0	T	0.30592	-0.9973	10	0.87932	D	0	-28.2491	14.605	0.68472	0.0:0.0:0.0:1.0	.	72;1657;1713;72	B4E2T9;O60449-3;O60449-2;Q8IX05	.;.;.;CD302_HUMAN	H	72;72;1713;1657;1713;1657	ENSP00000259053:N72H;ENSP00000394301:N72H;ENSP00000451511:N1713H;ENSP00000451446:N1657H;ENSP00000423463:N1713H;ENSP00000421035:N1657H	ENSP00000259053:N72H	N	-	1	0	LY75;CD302;LY75-CD302	160345720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.734000	0.62043	2.145000	0.66743	0.533000	0.62120	AAT		0.343	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		17	25	0	0	0	1	0	17	25				
KIAA1244	57221	broad.mit.edu	37	6	138559762	138559762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:138559762G>T	ENST00000251691.4	+	6	703	c.537G>T	c.(535-537)gaG>gaT	p.E179D		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAGGCAGGAGAATACGGTGA	0.557																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(535-537)gaG>gaT		KIAA1244							153.0	141.0	145.0					6																	138559762		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138559762G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.537G>T	6.37:g.138559762G>T	ENSP00000251691:p.Glu179Asp						p.E179D	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	6	703	+	Breast(32;0.135)		179						Missense_Mutation	SNP	ENST00000251691.4	37	c.537G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974811	0.74360	.	.	ENSG00000112379	ENST00000251691	T	0.05025	3.51	5.44	4.57	0.56435	.	5.484200	0.00166	N	0.000002	T	0.09069	0.0224	L	0.36672	1.1	0.44439	D	0.997369	D	0.69078	0.997	D	0.72625	0.978	T	0.17349	-1.0372	10	0.49607	T	0.09	-17.6358	6.8692	0.24111	0.2972:0.0:0.7028:0.0	.	179	Q5TH69	BIG3_HUMAN	D	179	ENSP00000251691:E179D	ENSP00000251691:E179D	E	+	3	2	KIAA1244	138601455	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.332000	0.33805	1.434000	0.47414	0.655000	0.94253	GAG		0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		46	80	1	0	1.48734e-19	1	2.02648e-19	46	80				
PHF19	26147	broad.mit.edu	37	9	123620323	123620323	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123620323G>A	ENST00000373896.3	-	15	1894	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	PHF19_ENST00000419155.1_Missense_Mutation_p.R339W|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	548					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGCCAACCGCCCAGCTGCA	0.557																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1642-1644)Cgg>Tgg		PHD finger protein 19							139.0	123.0	128.0					9																	123620323		2203	4300	6503	SO:0001583	missense	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123620323G>A	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1642C>T	9.37:g.123620323G>A	ENSP00000363003:p.Arg548Trp					PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.R339W	p.R548W	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN			15	1894	-			548					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.1642C>T	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787232	0.70337	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155	T;T	0.66280	0.94;-0.2	5.12	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72808	-0.4181	10	0.52906	T	0.07	-22.6854	12.4296	0.55567	0.0:0.0:0.429:0.571	.	548	Q5T6S3	PHF19_HUMAN	W	548;548;339	ENSP00000363003:R548W;ENSP00000407433:R339W	ENSP00000363003:R548W	R	-	1	2	PHF19	122660144	0.677000	0.27577	0.933000	0.37362	0.970000	0.65996	0.505000	0.22642	0.515000	0.28320	0.561000	0.74099	CGG		0.557	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		36	45	0	0	0	1	0	36	45				
MRPL40	64976	broad.mit.edu	37	22	19423164	19423164	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19423164G>A	ENST00000333130.3	+	4	953	c.300G>A	c.(298-300)gaG>gaA	p.E100E	HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	100					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TTTGCAGAGAGCGGCCTCAGG	0.507																																						ENST00000333130.3																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(298-300)gaG>gaA		mitochondrial ribosomal protein L40							219.0	227.0	224.0					22																	19423164		2203	4300	6503	SO:0001819	synonymous_variant	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19423164G>A	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"""Mitochondrial ribosomal proteins / large subunits"""	14491	protein-coding gene	gene with protein product		605089	"""nuclear localization signal deleted in velocardiofacial syndrome"""	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.300G>A	22.37:g.19423164G>A						HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000471259.1_3'UTR	p.E100E	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN			4	953	+	Colorectal(54;0.0993)		100					B3KVZ7|O95134	Silent	SNP	ENST00000333130.3	37	c.300G>A	CCDS13760.1																																																																																				0.507	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		40	290	0	0	0	1	0	40	290				
PLEKHG1	57480	broad.mit.edu	37	6	151153217	151153217	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151153217G>A	ENST00000358517.2	+	15	3181	c.2970G>A	c.(2968-2970)gcG>gcA	p.A990A	PLEKHG1_ENST00000367328.1_Silent_p.A990A			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	990							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTAAGAAGGCGAATCAACTTT	0.498																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2968-2970)gcG>gcA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							81.0	94.0	90.0					6																	151153217		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153217G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2970G>A	6.37:g.151153217G>A						PLEKHG1_ENST00000358517.2_Silent_p.A990A	p.A990A	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3282	+			990					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.2970G>A	CCDS34552.1																																																																																				0.498	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			107	135	0	0	0	1	0	107	135				
UGT2B10	7365	broad.mit.edu	37	4	69693266	69693266	+	Splice_Site	SNP	C	C	T	rs375008131	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69693266C>T	ENST00000265403.7	+	5	1334	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	UGT2B10_ENST00000458688.2_Splice_Site_p.S352L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	436					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATGATCCTTCGTGAGTAGAA	0.388													c|||	2	0.000399361	0.0008	0.0	5008	,	,		16223	0.001		0.0	False		,,,				2504	0.0				Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.e5+1		UDP glucuronosyltransferase 2 family, polypeptide B10		T	LEU/SER,LEU/SER	5,3017		0,5,1506	130.0	140.0	137.0		1307,1055	-3.6	0.0	4		137	0,5416		0,0,2708	no	missense-near-splice,missense-near-splice	UGT2B10	NM_001075.4,NM_001144767.1	145,145	0,5,4214	TT,TC,CC		0.0,0.1655,0.0593	benign,benign	436/529,352/445	69693266	5,8433	1511	2708	4219	SO:0001630	splice_region_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69693266C>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1307+1C>T	4.37:g.69693266C>T						UGT2B10_ENST00000458688.2_Splice_Site_p.S352_splice	p.S436_splice	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			5	1334	+			436					A8K9M3|B4DPP1|Q14CR8	Splice_Site	SNP	ENST00000265403.7	37	c.1307_splice		.	.	.	.	.	.	.	.	.	.	c	9.674	1.147395	0.21288	0.001655	0.0	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.64618	-0.11;3.09	2.25	-3.57	0.04612	.	0.336345	0.24278	N	0.039924	T	0.57315	0.2045	M	0.86178	2.8	0.29939	N	0.821212	B;B	0.29716	0.05;0.255	B;B	0.23018	0.01;0.043	T	0.42632	-0.9440	10	0.48119	T	0.1	.	9.5167	0.39109	0.0:0.7318:0.0:0.2682	.	352;436	B4DPP1;P36537	.;UDB10_HUMAN	L	436;352	ENSP00000265403:S436L;ENSP00000413420:S352L	ENSP00000265403:S436L	S	+	2	0	UGT2B10	69727855	0.175000	0.23083	0.020000	0.16555	0.030000	0.12068	0.282000	0.18829	-1.959000	0.01018	-2.741000	0.00127	TCA		0.388	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	Missense_Mutation	40	79	0	0	0	1	0	40	79				
NRCAM	4897	broad.mit.edu	37	7	107832197	107832197	+	Missense_Mutation	SNP	C	C	T	rs567322261		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107832197C>T	ENST00000425651.2	-	15	1878	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T	NRCAM_ENST00000379022.4_Missense_Mutation_p.A627T|NRCAM_ENST00000413765.2_Missense_Mutation_p.A608T|NRCAM_ENST00000351718.4_Missense_Mutation_p.A621T|NRCAM_ENST00000379028.3_Missense_Mutation_p.A627T|NRCAM_ENST00000379024.4_Missense_Mutation_p.A608T	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	627	Ig-like 6.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAGCGCTGGCGGAGACGCTG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		16488	0.0		0.0	False		,,,				2504	0.001					ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1879-1881)Gcc>Acc		neuronal cell adhesion molecule							93.0	75.0	81.0					7																	107832197		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107832197C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1879G>A	7.37:g.107832197C>T	ENSP00000401244:p.Ala627Thr					NRCAM_ENST00000379022.4_Missense_Mutation_p.A627T|NRCAM_ENST00000351718.4_Missense_Mutation_p.A621T|NRCAM_ENST00000379024.4_Missense_Mutation_p.A608T|NRCAM_ENST00000425651.2_Missense_Mutation_p.A627T|NRCAM_ENST00000413765.2_Missense_Mutation_p.A608T	p.A627T			Q92823	NRCAM_HUMAN			18	2349	-			627			Ig-like 6.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1879G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	36	5.773673	0.96922	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.85	5.85	0.93711	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097167	0.64402	D	0.000001	T	0.80834	0.4699	L	0.60067	1.865	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.953;0.999;0.954;0.923;0.984	T	0.80056	-0.1542	10	0.56958	D	0.05	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	627;608;608;621;627	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	T	627;627;608;627;621;608;627;627;621	ENSP00000368314:A627T;ENSP00000407858:A608T;ENSP00000325269:A621T;ENSP00000368310:A608T;ENSP00000401244:A627T;ENSP00000368308:A627T	ENSP00000325269:A621T	A	-	1	0	NRCAM	107619433	1.000000	0.71417	0.968000	0.41197	0.934000	0.57294	7.764000	0.85297	2.761000	0.94854	0.655000	0.94253	GCC		0.453	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		12	31	0	0	0	1	0	12	31				
FAT4	79633	broad.mit.edu	37	4	126371571	126371571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126371571G>T	ENST00000394329.3	+	9	9413	c.9400G>T	c.(9400-9402)Gaa>Taa	p.E3134*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E1432*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3134	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGAAATGAAGAAGGCATTTT	0.393																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9400-9402)Gaa>Taa		FAT atypical cadherin 4							66.0	67.0	67.0					4																	126371571		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371571G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9400G>T	4.37:g.126371571G>T	ENSP00000377862:p.Glu3134*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.E1432*	p.E3134*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9413	+			3134			Cadherin 30.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.9400G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	50	16.117429	0.99854	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.63	3.83	0.44106	.	0.302521	0.18061	U	0.152947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	11.9897	0.53168	0.1435:0.0:0.8565:0.0	.	.	.	.	X	3134;1432	.	ENSP00000335169:E1432X	E	+	1	0	FAT4	126591021	0.832000	0.29368	0.632000	0.29296	0.770000	0.43624	3.202000	0.51067	1.316000	0.45131	0.655000	0.94253	GAA		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	38	1	0	7.48243e-07	1	8.49459e-07	10	38				
PMAIP1	5366	broad.mit.edu	37	18	57569963	57569963	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57569963A>C	ENST00000316660.6	+	2	373	c.143A>C	c.(142-144)aAa>aCa	p.K48T	PMAIP1_ENST00000269518.9_Missense_Mutation_p.Q98H	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	48	Required for mitochondrial location.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|defense response to virus (GO:0051607)|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)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|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 release of cytochrome c from mitochondria (GO:0090200)|proteasomal protein catabolic process (GO:0010498)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to dsRNA (GO:0043331)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)	1		Colorectal(73;0.0946)				CTGATATCCAAACTCTTCTGC	0.438																																						ENST00000316660.6																			0				breast(1)	1						c.(142-144)aAa>aCa		phorbol-12-myristate-13-acetate-induced protein 1							74.0	77.0	76.0					18																	57569963		2203	4300	6503	SO:0001583	missense	5366				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding	g.chr18:57569963A>C	D90070	CCDS11975.1	18q21.32	2014-03-07			ENSG00000141682	ENSG00000141682			9108	protein-coding gene	gene with protein product		604959				2398525, 12879012	Standard	NM_021127		Approved	APR, NOXA	uc002lic.2	Q13794	OTTHUMG00000132765	ENST00000316660.6:c.143A>C	18.37:g.57569963A>C	ENSP00000326119:p.Lys48Thr					PMAIP1_ENST00000269518.9_Missense_Mutation_p.Q98H	p.K48T	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN			2	373	+		Colorectal(73;0.0946)	48			Required for mitochondrial location.		B2R4T7|Q8N589	Missense_Mutation	SNP	ENST00000316660.6	37	c.143A>C	CCDS11975.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.75|16.75	3.208617|3.208617	0.58343|0.58343	.|.	.|.	ENSG00000141682|ENSG00000141682	ENST00000316660|ENST00000269518	.|.	.|.	.|.	4.93|4.93	3.74|3.74	0.42951|0.42951	.|.	.|1.242490	.|0.06232	.|U	.|0.688854	T|T	0.66781|0.66781	0.2824|0.2824	.|.	.|.	.|.	0.21473|0.21473	N|N	0.999677|0.999677	B|D	0.30851|0.89917	0.297|1.0	B|D	0.30179|0.71656	0.112|0.974	T|T	0.44329|0.44329	-0.9335|-0.9335	7|8	0.87932|0.87932	D|D	0|0	.|.	9.1065|9.1065	0.36701|0.36701	0.8152:0.1848:0.0:0.0|0.8152:0.1848:0.0:0.0	.|.	48|98	Q13794|Q8N589	APR_HUMAN|.	T|H	48|98	.|.	ENSP00000326119:K48T|ENSP00000269518:Q98H	K|Q	+|+	2|3	0|2	PMAIP1|PMAIP1	55720943|55720943	1.000000|1.000000	0.71417|0.71417	0.145000|0.145000	0.22337|0.22337	0.726000|0.726000	0.41606|0.41606	2.650000|2.650000	0.46665|0.46665	0.931000|0.931000	0.37242|0.37242	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.438	PMAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256137.1	NM_021127		18	33	0	0	0	1	0	18	33				
C10orf55	414236	broad.mit.edu	37	10	75673107	75673107	+	Intron	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75673107T>C	ENST00000409178.1	-	3	268				PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.V143A|PLAU_ENST00000372762.4_Missense_Mutation_p.V107A|PLAU_ENST00000446342.1_Missense_Mutation_p.V126A|C10orf55_ENST00000412307.2_Intron	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					AAGCTGCTTGTCCAAGAGTGC	0.542																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(376-378)gTc>gCc		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						133.0	125.0	128.0					10																	75673107		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673107T>C		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-274A>G	10.37:g.75673107T>C						C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.V143A|PLAU_ENST00000372762.4_Missense_Mutation_p.V107A	p.V126A	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			5	859	+	Prostate(51;0.0112)		143			Kringle.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.377T>C	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	T	8.561	0.877839	0.17395	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.62639	0.01;0.01;0.01	5.47	4.28	0.50868	Kringle (4);Kringle-like fold (1);	1.140210	0.06267	N	0.694962	T	0.55386	0.1917	L	0.49778	1.585	0.58432	D	0.999997	B;B;P;B	0.35872	0.059;0.126;0.525;0.271	B;B;B;B	0.34590	0.062;0.103;0.186;0.158	T	0.44667	-0.9313	10	0.17832	T	0.49	.	8.7598	0.34667	0.1673:0.0:0.0:0.8327	.	126;107;143;143	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	A	126;143;107;107	ENSP00000388474:V126A;ENSP00000361850:V143A;ENSP00000361848:V107A	ENSP00000361847:V107A	V	+	2	0	PLAU	75343113	0.126000	0.22350	0.899000	0.35326	0.238000	0.25445	1.389000	0.34453	2.072000	0.62099	0.528000	0.53228	GTC		0.542	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		41	73	0	0	0	1	0	41	73				
NKD1	85407	broad.mit.edu	37	16	50667564	50667564	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50667564C>T	ENST00000268459.3	+	10	1509	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	429					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGTCCTGGGGCGGGAGCACCT	0.682																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(1285-1287)Cgg>Tgg		naked cuticle homolog 1 (Drosophila)							15.0	13.0	13.0					16																	50667564		2150	4226	6376	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667564C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1285C>T	16.37:g.50667564C>T	ENSP00000268459:p.Arg429Trp						p.R429W	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1509	+		all_cancers(37;0.229)	429					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.1285C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841841	0.51057	.	.	ENSG00000140807	ENST00000268459	T	0.67171	-0.25	3.93	2.89	0.33648	.	0.058724	0.64402	D	0.000003	T	0.69242	0.3089	L	0.47716	1.5	0.36991	D	0.894767	D	0.71674	0.998	P	0.59546	0.859	T	0.74919	-0.3500	10	0.72032	D	0.01	-21.9784	8.5707	0.33567	0.3734:0.6266:0.0:0.0	.	429	Q969G9	NKD1_HUMAN	W	429	ENSP00000268459:R429W	ENSP00000268459:R429W	R	+	1	2	NKD1	49225065	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	4.823000	0.62694	2.019000	0.59389	0.305000	0.20034	CGG		0.682	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			5	15	0	0	0	1	0	5	15				
PFKFB1	5207	broad.mit.edu	37	X	54978379	54978379	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54978379G>A	ENST00000375006.3	-	8	875	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	PFKFB1_ENST00000545676.1_Missense_Mutation_p.R204C|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	269	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCTCCGATGCGGCCTCTGATG	0.587																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(805-807)Cgc>Tgc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							122.0	76.0	92.0					X																	54978379		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54978379G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.805C>T	X.37:g.54978379G>A	ENSP00000364145:p.Arg269Cys					PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.R204C	p.R269C	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			8	875	-			269			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.805C>T	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813534	0.70912	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	T;T	0.74632	-0.86;-0.86	4.53	3.59	0.41128	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	M	0.88570	2.965	0.80722	D	1	D;P	0.63880	0.993;0.794	P;B	0.57009	0.811;0.135	D	0.86084	0.1546	10	0.66056	D	0.02	-12.7247	10.1881	0.43011	0.0:0.0:0.6712:0.3288	.	204;269	B4DUN5;P16118	.;F261_HUMAN	C	269;204	ENSP00000364145:R269C;ENSP00000444074:R204C	ENSP00000364145:R269C	R	-	1	0	PFKFB1	54995104	0.919000	0.31177	1.000000	0.80357	0.939000	0.58152	1.507000	0.35758	2.015000	0.59207	0.519000	0.50382	CGC		0.587	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			8	19	0	0	0	1	0	8	19				
COPS3	8533	broad.mit.edu	37	17	17179423	17179423	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17179423C>A	ENST00000268717.5	-	2	217	c.111G>T	c.(109-111)aaG>aaT	p.K37N	COPS3_ENST00000539941.2_Missense_Mutation_p.K17N|COPS3_ENST00000439936.2_Missense_Mutation_p.K17N	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	37					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGGATAAGTTCTTCGCAAGGA	0.458																																						ENST00000539941.2																			0				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(49-51)aaG>aaT		COP9 signalosome subunit 3							152.0	121.0	132.0					17																	17179423		2203	4300	6503	SO:0001583	missense	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17179423C>A	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.111G>T	17.37:g.17179423C>A	ENSP00000268717:p.Lys37Asn					COPS3_ENST00000439936.2_Missense_Mutation_p.K17N|COPS3_ENST00000268717.5_Missense_Mutation_p.K37N	p.K17N	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN			2	259	-			37					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000268717.5	37	c.51G>T	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668470	0.67814	.	.	ENSG00000141030	ENST00000268717;ENST00000539941;ENST00000417352;ENST00000439936	T;T;T	0.46063	0.88;0.88;0.88	5.08	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.38175	1.15	0.58432	D	0.999995	B	0.22683	0.073	B	0.18263	0.021	T	0.05801	-1.0863	10	0.21540	T	0.41	-25.0054	6.857	0.24046	0.0:0.6992:0.0:0.3007	.	37	Q9UNS2	CSN3_HUMAN	N	37;17;37;61	ENSP00000268717:K37N;ENSP00000437606:K17N;ENSP00000409028:K37N	ENSP00000268717:K37N	K	-	3	2	COPS3	17120148	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.226000	0.32563	1.260000	0.44134	0.555000	0.69702	AAG		0.458	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2			20	45	1	0	5.35267e-07	1	6.09026e-07	20	45				
SGOL2	151246	broad.mit.edu	37	2	201437691	201437691	+	Missense_Mutation	SNP	T	T	G	rs189556864		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201437691T>G	ENST00000357799.4	+	7	2720	c.2622T>G	c.(2620-2622)aaT>aaG	p.N874K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	874					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATAATGGAAATTTATGTGATT	0.308													T|||	1	0.000199681	0.0	0.0	5008	,	,		19226	0.0		0.001	False		,,,				2504	0.0					ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2620-2622)aaT>aaG		shugoshin-like 2 (S. pombe)							81.0	83.0	82.0					2																	201437691		1805	4056	5861	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437691T>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2622T>G	2.37:g.201437691T>G	ENSP00000350447:p.Asn874Lys						p.N874K	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2720	+			874					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2622T>G	CCDS42796.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	0.855	-0.737410	0.03111	.	.	ENSG00000163535	ENST00000357799	T	0.14516	2.5	4.7	2.21	0.28008	.	0.309294	0.23487	N	0.047646	T	0.08179	0.0204	N	0.22421	0.69	0.21445	N	0.999681	B;B;B	0.14438	0.002;0.001;0.01	B;B;B	0.17433	0.004;0.004;0.018	T	0.27365	-1.0076	10	0.44086	T	0.13	-12.0054	5.3484	0.16022	0.177:0.0:0.1849:0.6381	.	874;874;874	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	874	ENSP00000350447:N874K	ENSP00000350447:N874K	N	+	3	2	SGOL2	201145936	0.000000	0.05858	0.009000	0.14445	0.036000	0.12997	-0.268000	0.08607	0.357000	0.24183	-0.399000	0.06403	AAT		0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		6	70	0	0	0	1	0	6	70				
NCAM1	4684	broad.mit.edu	37	11	113102991	113102991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113102991C>A	ENST00000533760.1	+	10	1555	c.956C>A	c.(955-957)tCa>tAa	p.S319*	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Nonsense_Mutation_p.S437*|NCAM1_ENST00000401611.2_Nonsense_Mutation_p.S446*	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	447	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCACGATCTCATGGTTTCGG	0.552																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1309-1311)tCa>tAa		neural cell adhesion molecule 1							74.0	74.0	74.0					11																	113102991		2022	4199	6221	SO:0001587	stop_gained	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102991C>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.956C>A	11.37:g.113102991C>A	ENSP00000473281:p.Ser319*					NCAM1_ENST00000533760.1_Nonsense_Mutation_p.S319*|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Nonsense_Mutation_p.S446*	p.S437*	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	10	1310	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	447			Ig-like C2-type 5.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Nonsense_Mutation	SNP	ENST00000533760.1	37	c.1310C>A		.	.	.	.	.	.	.	.	.	.	C	37	6.603661	0.97697	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	.	.	.	5.73	5.73	0.89815	.	0.231428	0.31859	U	0.006957	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.9785	20.2786	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	319;446;437	.	ENSP00000318472:S437X	S	+	2	0	NCAM1	112608201	0.999000	0.42202	1.000000	0.80357	0.912000	0.54170	3.825000	0.55730	2.868000	0.98415	0.557000	0.71058	TCA		0.552	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		15	42	1	0	0.000308642	1	0.000328443	15	42				
NAA30	122830	broad.mit.edu	37	14	57876118	57876118	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:57876118A>G	ENST00000556492.1	+	5	1127	c.973A>G	c.(973-975)Aca>Gca	p.T325A	NAA30_ENST00000554703.1_Missense_Mutation_p.N48S|NAA30_ENST00000555166.1_Missense_Mutation_p.T67A	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	325	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AACCGAAATAACAAATAAGTC	0.274																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(973-975)Aca>Gca		N(alpha)-acetyltransferase 30, NatC catalytic subunit							58.0	57.0	57.0					14																	57876118		2203	4300	6503	SO:0001583	missense	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57876118A>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.973A>G	14.37:g.57876118A>G	ENSP00000452521:p.Thr325Ala					NAA30_ENST00000554703.1_Missense_Mutation_p.N48S|NAA30_ENST00000555166.1_Missense_Mutation_p.T67A	p.T325A	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN			5	1127	+			325			N-acetyltransferase.		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	c.973A>G	CCDS32088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.69|15.69	2.907179|2.907179	0.52333|0.52333	.|.	.|.	ENSG00000139977|ENSG00000139977	ENST00000554703|ENST00000555166;ENST00000556492;ENST00000395257	.|T;T	.|0.20738	.|2.05;2.05	5.04|5.04	5.04|5.04	0.67666|0.67666	.|GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30759|0.30759	0.0775|0.0775	L|L	0.38953|0.38953	1.18|1.18	0.30245|0.30245	N|N	0.794659|0.794659	.|B	.|0.33549	.|0.417	.|P	.|0.48189	.|0.57	T|T	0.32534|0.32534	-0.9903|-0.9903	5|10	.|0.72032	.|D	.|0.01	-6.1238|-6.1238	15.0575|15.0575	0.71925|0.71925	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|325	.|Q147X3	.|NAA30_HUMAN	S|A	48|67;325;288	.|ENSP00000450939:T67A;ENSP00000452521:T325A	.|ENSP00000298406:T325A	N|T	+|+	2|1	0|0	NAA30|NAA30	56945871|56945871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	8.761000|8.761000	0.91691|0.91691	2.011000|2.011000	0.59026|0.59026	0.454000|0.454000	0.30748|0.30748	AAC|ACA		0.274	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		13	27	0	0	0	1	0	13	27				
KIAA0232	9778	broad.mit.edu	37	4	6843914	6843914	+	Nonsense_Mutation	SNP	C	C	T	rs553190523		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:6843914C>T	ENST00000307659.5	+	4	807	c.352C>T	c.(352-354)Cga>Tga	p.R118*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R118*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	118							ATP binding (GO:0005524)	p.R118*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CCAGTGTCTTCGATCTGCTTC	0.348																																						ENST00000307659.5																			1	Substitution - Nonsense(1)	p.R118*(1)	large_intestine(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(352-354)Cga>Tga		KIAA0232							101.0	107.0	105.0					4																	6843914		1833	4092	5925	SO:0001587	stop_gained	9778						ATP binding	g.chr4:6843914C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.352C>T	4.37:g.6843914C>T	ENSP00000303928:p.Arg118*					KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R118*	p.R118*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			4	807	+			118					A7E2D2	Nonsense_Mutation	SNP	ENST00000307659.5	37	c.352C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	42	9.516982	0.99193	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.14	5.14	0.70334	.	0.119890	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8053	18.5814	0.91172	0.0:1.0:0.0:0.0	.	.	.	.	X	118	.	ENSP00000303928:R118X	R	+	1	2	KIAA0232	6894815	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	7.278000	0.78587	2.360000	0.80028	0.655000	0.94253	CGA		0.348	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		23	43	0	0	0	1	0	23	43				
PRDM4	11108	broad.mit.edu	37	12	108145727	108145727	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108145727A>C	ENST00000228437.5	-	5	1050	c.591T>G	c.(589-591)gtT>gtG	p.V197V	RP11-864J10.4_ENST00000546714.1_RNA|PRDM4_ENST00000547268.1_5'Flank	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	197					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TAACCCTAGAAACGTTCTCCA	0.512																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(589-591)gtT>gtG		PR domain containing 4							145.0	130.0	135.0					12																	108145727		2203	4300	6503	SO:0001819	synonymous_variant	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108145727A>C	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.591T>G	12.37:g.108145727A>C						RP11-864J10.4_ENST00000546714.1_RNA	p.V197V	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			5	1050	-			197					Q9UFA6	Silent	SNP	ENST00000228437.5	37	c.591T>G	CCDS9115.1																																																																																				0.512	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		37	51	0	0	0	1	0	37	51				
UBR3	130507	broad.mit.edu	37	2	170843295	170843295	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170843295G>A	ENST00000272793.5	+	25	3825	c.3775G>A	c.(3775-3777)Gca>Aca	p.A1259T	UBR3_ENST00000418381.1_Missense_Mutation_p.A1259T|UBR3_ENST00000392631.1_Missense_Mutation_p.A80T			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1259					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ACTGTTACAAGCATCCTCAGG	0.353																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(3775-3777)Gca>Aca		ubiquitin protein ligase E3 component n-recognin 3 (putative)							93.0	93.0	93.0					2																	170843295		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170843295G>A	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3775G>A	2.37:g.170843295G>A	ENSP00000272793:p.Ala1259Thr					UBR3_ENST00000392631.1_Missense_Mutation_p.A80T|UBR3_ENST00000418381.1_Missense_Mutation_p.A1259T	p.A1259T			Q6ZT12	UBR3_HUMAN			25	3825	+			1259					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.3775G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.669863	0.88348	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631	T;T;T	0.45276	0.95;0.95;0.9	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	L	0.45352	1.415	0.41310	D	0.987106	P;P;D	0.63880	0.598;0.827;0.993	B;P;D	0.70935	0.309;0.602;0.971	T	0.40683	-0.9550	10	0.14656	T	0.56	.	15.2865	0.73833	0.0:0.1404:0.8596:0.0	.	1259;80;1259	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	T	1259;1259;1259;80	ENSP00000272793:A1259T;ENSP00000396068:A1259T;ENSP00000376408:A80T	ENSP00000272793:A1259T	A	+	1	0	UBR3	170551541	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.531000	0.81973	2.461000	0.83175	0.585000	0.79938	GCA		0.353	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		28	35	0	0	0	1	0	28	35				
DYNC1H1	1778	broad.mit.edu	37	14	102502923	102502923	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:102502923G>A	ENST00000360184.4	+	57	11016	c.10852G>A	c.(10852-10854)Gcc>Acc	p.A3618T	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3618	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCTGGATGACGCCTTCAGAAA	0.468																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(10852-10854)Gcc>Acc		dynein, cytoplasmic 1, heavy chain 1							150.0	130.0	136.0					14																	102502923		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102502923G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10852G>A	14.37:g.102502923G>A	ENSP00000348965:p.Ala3618Thr					RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR	p.A3618T	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			57	11016	+			3618			AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10852G>A	CCDS9966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.292971|4.292971	0.80914|0.80914	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000360184|ENST00000553423	T|.	0.22945|.	1.93|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.052506|.	0.85682|.	D|.	0.000000|.	T|T	0.67748|0.67748	0.2926|0.2926	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	P|.	0.51653|.	0.947|.	P|.	0.44561|.	0.453|.	T|T	0.61163|0.61163	-0.7118|-0.7118	10|5	0.42905|.	T|.	0.14|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3618|.	Q14204|.	DYHC1_HUMAN|.	T|H	3618|93	ENSP00000348965:A3618T|.	ENSP00000348965:A3618T|.	A|R	+|+	1|2	0|0	DYNC1H1|DYNC1H1	101572676|101572676	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.976000|0.976000	0.68499|0.68499	7.928000|7.928000	0.87587|0.87587	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.468	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		8	119	0	0	0	1	0	8	119				
CSMD3	114788	broad.mit.edu	37	8	113529438	113529438	+	Silent	SNP	C	C	T	rs563110439		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113529438C>T	ENST00000297405.5	-	28	4825	c.4581G>A	c.(4579-4581)gcG>gcA	p.A1527A	CSMD3_ENST00000352409.3_Silent_p.A1527A|CSMD3_ENST00000343508.3_Silent_p.A1487A|CSMD3_ENST00000455883.2_Silent_p.A1423A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1527	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTCACGACACGCAGTGGCAA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4579-4581)gcG>gcA		CUB and Sushi multiple domains 3							51.0	46.0	48.0					8																	113529438		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113529438C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4581G>A	8.37:g.113529438C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.A1487A|CSMD3_ENST00000455883.2_Silent_p.A1423A|CSMD3_ENST00000352409.3_Silent_p.A1527A	p.A1527A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4825	-			1527			Sushi 8.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4581G>A	CCDS6315.1																																																																																				0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	18	0	0	0	1	0	19	18				
ISM1	140862	broad.mit.edu	37	20	13251302	13251302	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13251302G>T	ENST00000262487.4	+	2	296	c.290G>T	c.(289-291)aGa>aTa	p.R97I	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	97						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCATTGCAAAGAGATTTCCCC	0.498																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(289-291)aGa>aTa		isthmin 1, angiogenesis inhibitor							100.0	92.0	95.0					20																	13251302		1888	4129	6017	SO:0001583	missense	140862					extracellular region		g.chr20:13251302G>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.290G>T	20.37:g.13251302G>T	ENSP00000262487:p.Arg97Ile					TASP1_ENST00000539805.1_Intron	p.R97I	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			2	296	+			97					Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.290G>T	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897517	0.91962	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.50548	0.74;0.76	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	L	0.48642	1.525	0.80722	D	1	P	0.49961	0.93	P	0.48030	0.564	T	0.55270	-0.8167	10	0.72032	D	0.01	-25.1921	20.0706	0.97721	0.0:0.0:1.0:0.0	.	97	B1AKI9	ISM1_HUMAN	I	97;51	ENSP00000262487:R97I;ENSP00000409938:R51I	ENSP00000262487:R97I	R	+	2	0	ISM1	13199302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.113000	0.64640	2.744000	0.94065	0.655000	0.94253	AGA		0.498	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			12	32	1	0	1.08611e-07	1	1.25818e-07	12	32				
KIF20B	9585	broad.mit.edu	37	10	91468967	91468967	+	Missense_Mutation	SNP	G	G	A	rs201280490		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91468967G>A	ENST00000371728.3	+	3	256	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	KIF20B_ENST00000416354.1_Missense_Mutation_p.R64Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.R64Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R64Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	64	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GTTTGTCTTCGAATAAGACCA	0.294													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16367	0.0		0.0	False		,,,				2504	0.0					ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(190-192)cGa>cAa		kinesin family member 20B							52.0	57.0	56.0					10																	91468967		2202	4298	6500	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91468967G>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.191G>A	10.37:g.91468967G>A	ENSP00000360793:p.Arg64Gln					KIF20B_ENST00000394289.2_Missense_Mutation_p.R64Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.R64Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R64Q	p.R64Q			Q96Q89	KI20B_HUMAN			3	263	+			64			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.191G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.139219	0.94560	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	D;D;D;D;T	0.86432	-2.12;-2.12;-2.12;-2.12;0.73	5.46	5.46	0.80206	Kinesin, motor domain (4);	0.000000	0.40554	N	0.001063	D	0.95692	0.8599	H	0.94886	3.595	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96343	0.9252	10	0.72032	D	0.01	-9.2928	19.6713	0.95912	0.0:0.0:1.0:0.0	.	64;64	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	64	ENSP00000260753:R64Q;ENSP00000411545:R64Q;ENSP00000377830:R64Q;ENSP00000360793:R64Q;ENSP00000390946:R64Q	ENSP00000260753:R64Q	R	+	2	0	KIF20B	91458947	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.378000	0.79679	2.710000	0.92621	0.655000	0.94253	CGA		0.294	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		9	44	0	0	0	1	0	9	44				
PCDH12	51294	broad.mit.edu	37	5	141335924	141335924	+	Missense_Mutation	SNP	C	C	T	rs374457419		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141335924C>T	ENST00000231484.3	-	1	2703	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTGGATGCGGTATGAGAC	0.483																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1492-1494)cGc>cAc		protocadherin 12		C	HIS/ARG	0,4406		0,0,2203	98.0	97.0	97.0		1493	4.3	1.0	5		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCDH12	NM_016580.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	498/1185	141335924	1,13005	2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335924C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1493G>A	5.37:g.141335924C>T	ENSP00000231484:p.Arg498His						p.R498H	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2703	-		all_hematologic(541;0.0999)	498			Cadherin 5.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1493G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	6.652	0.488891	0.12641	0.0	1.16E-4	ENSG00000113555	ENST00000231484	T	0.53640	0.61	5.16	4.3	0.51218	Cadherin (4);Cadherin-like (1);	0.329239	0.34200	N	0.004170	T	0.34600	0.0903	L	0.37750	1.13	0.29331	N	0.866697	B	0.13145	0.007	B	0.10450	0.005	T	0.22591	-1.0212	10	0.38643	T	0.18	.	7.4271	0.27105	0.0:0.7449:0.1668:0.0883	.	498	Q9NPG4	PCD12_HUMAN	H	498	ENSP00000231484:R498H	ENSP00000231484:R498H	R	-	2	0	PCDH12	141316108	0.890000	0.30428	1.000000	0.80357	0.562000	0.35680	0.086000	0.14935	1.411000	0.46957	0.655000	0.94253	CGC		0.483	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		21	41	0	0	0	1	0	21	41				
SLC9A4	389015	broad.mit.edu	37	2	103141567	103141567	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:103141567T>G	ENST00000295269.4	+	10	2360	c.1903T>G	c.(1903-1905)Tta>Gta	p.L635V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	635					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCAGAACACCTTAAGGGAGAG	0.512																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1903-1905)Tta>Gta		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							150.0	154.0	153.0					2																	103141567		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141567T>G		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1903T>G	2.37:g.103141567T>G	ENSP00000295269:p.Leu635Val						p.L635V	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			10	2360	+			635					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1903T>G	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	T	7.716	0.696150	0.15106	.	.	ENSG00000180251	ENST00000295269	T	0.47177	0.85	5.84	2.17	0.27698	.	0.631744	0.16344	N	0.218546	T	0.34048	0.0884	L	0.52126	1.63	0.26481	N	0.975105	B	0.02656	0.0	B	0.06405	0.002	T	0.26326	-1.0106	10	0.15499	T	0.54	.	4.4344	0.11544	0.1394:0.3054:0.0:0.5552	.	635	Q6AI14	SL9A4_HUMAN	V	635	ENSP00000295269:L635V	ENSP00000295269:L635V	L	+	1	2	SLC9A4	102507999	0.921000	0.31238	0.194000	0.23346	0.050000	0.14768	0.220000	0.17660	0.136000	0.18733	0.523000	0.50628	TTA		0.512	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		83	116	0	0	0	1	0	83	116				
SLC17A5	26503	broad.mit.edu	37	6	74325059	74325059	+	Missense_Mutation	SNP	G	G	A	rs150686745		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74325059G>A	ENST00000355773.5	-	8	1358	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	364					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)	p.R364C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAATTCTGCGAACACATAAA	0.343																																						ENST00000355773.5																			3	Substitution - Missense(3)	p.R364C(3)	skin(2)|large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1090-1092)Cgc>Tgc		solute carrier family 17 (acidic sugar transporter), member 5							95.0	90.0	92.0					6																	74325059		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74325059G>A	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1090C>T	6.37:g.74325059G>A	ENSP00000348019:p.Arg364Cys					SLC17A5_ENST00000393019.3_3'UTR	p.R364C	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			8	1358	-			364					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.1090C>T	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698436	0.68386	.	.	ENSG00000119899	ENST00000355773	T	0.66638	-0.22	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90051	0.4149	10	0.87932	D	0	.	12.9623	0.58466	0.0:0.0:0.8381:0.1619	.	426;364	E1P537;Q9NRA2	.;S17A5_HUMAN	C	364	ENSP00000348019:R364C	ENSP00000348019:R364C	R	-	1	0	SLC17A5	74381780	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.386000	0.59620	2.221000	0.72209	0.561000	0.74099	CGC		0.343	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			21	31	0	0	0	1	0	21	31				
ACTR1B	10120	broad.mit.edu	37	2	98277092	98277092	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98277092T>C	ENST00000289228.5	-	3	347	c.131A>G	c.(130-132)cAc>cGc	p.H44R		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	44					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CACCCGCATGTGCTTCGGCCG	0.597																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(130-132)cAc>cGc		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							102.0	101.0	102.0					2																	98277092		2203	4300	6503	SO:0001583	missense	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98277092T>C	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.131A>G	2.37:g.98277092T>C	ENSP00000289228:p.His44Arg						p.H44R	NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			3	347	-			44					D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	c.131A>G	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	23.8	4.454460	0.84209	.	.	ENSG00000115073	ENST00000289228	D	0.94280	-3.39	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	M	0.85777	2.775	0.80722	D	1	D	0.56035	0.974	D	0.68765	0.96	D	0.97166	0.9841	10	0.87932	D	0	.	13.5044	0.61476	0.0:0.0:0.0:1.0	.	44	P42025	ACTY_HUMAN	R	44	ENSP00000289228:H44R	ENSP00000289228:H44R	H	-	2	0	ACTR1B	97643524	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.016000	0.88706	2.094000	0.63399	0.459000	0.35465	CAC		0.597	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		39	77	0	0	0	1	0	39	77				
EXOC6	54536	broad.mit.edu	37	10	94816756	94816756	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94816756C>T	ENST00000260762.6	+	21	2259	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W	EXOC6_ENST00000371547.4_Missense_Mutation_p.R765W|EXOC6_ENST00000443748.2_Missense_Mutation_p.R646W|RP11-348J12.2_ENST00000444965.1_RNA|EXOC6_ENST00000371552.4_Missense_Mutation_p.R744W	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	749					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TAAGTACCTTCGGGTGAATCC	0.403																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(2230-2232)Cgg>Tgg		exocyst complex component 6							115.0	110.0	112.0					10																	94816756		2203	4300	6503	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94816756C>T	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2245C>T	10.37:g.94816756C>T	ENSP00000260762:p.Arg749Trp					EXOC6_ENST00000443748.2_Missense_Mutation_p.R646W|EXOC6_ENST00000260762.6_Missense_Mutation_p.R749W|EXOC6_ENST00000371547.4_Missense_Mutation_p.R765W	p.R744W	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			21	2259	+		Colorectal(252;0.123)	749					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.2230C>T	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962995	0.74016	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.62	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.80847	2.515	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.85130	0.992;0.997;0.997;0.997;0.997;0.995	T	0.70342	-0.4898	10	0.72032	D	0.01	-9.4267	13.1489	0.59478	0.2909:0.7091:0.0:0.0	.	765;646;741;702;749;744	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	W	765;744;646;749	ENSP00000360602:R765W;ENSP00000360607:R744W;ENSP00000396206:R646W;ENSP00000260762:R749W	ENSP00000260762:R749W	R	+	1	2	EXOC6	94806746	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.901000	0.48695	1.329000	0.45376	0.655000	0.94253	CGG		0.403	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		24	38	0	0	0	1	0	24	38				
ZNF433	163059	broad.mit.edu	37	19	12127029	12127029	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12127029C>T	ENST00000344980.6	-	4	823	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.R183Q	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AGTGTGAGTTCGTTTGTGGAT	0.403																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(547-549)cGa>cAa		zinc finger protein 433							73.0	76.0	75.0					19																	12127029		2203	4300	6503	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12127029C>T	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.653G>A	19.37:g.12127029C>T	ENSP00000339767:p.Arg218Gln					CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.R218Q|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	p.R183Q			Q8N7K0	ZN433_HUMAN			5	839	-			218					Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.548G>A	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712221	0.48517	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.02369	4.32;4.32	1.19	0.112	0.14623	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	L	0.43646	1.37	0.19300	N	0.999977	D	0.69078	0.997	P	0.54856	0.762	T	0.38564	-0.9655	9	0.62326	D	0.03	.	2.5366	0.04716	0.0:0.4462:0.3234:0.2304	.	218	Q8N7K0	ZN433_HUMAN	Q	183;218	ENSP00000393416:R183Q;ENSP00000339767:R218Q	ENSP00000339767:R218Q	R	-	2	0	ZNF433	11988029	0.000000	0.05858	0.007000	0.13788	0.207000	0.24258	-0.673000	0.05239	0.066000	0.16515	0.306000	0.20318	CGA		0.403	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		16	41	0	0	0	1	0	16	41				
GABRA4	2557	broad.mit.edu	37	4	46995427	46995427	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:46995427C>A	ENST00000264318.3	-	1	997	c.15G>T	c.(13-15)aaG>aaT	p.K5N	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	5					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CGGGTACCTTCTTGGCAGAAA	0.602																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(13-15)aaG>aaT		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						103.0	93.0	96.0					4																	46995427		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46995427C>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.15G>T	4.37:g.46995427C>A	ENSP00000264318:p.Lys5Asn					GABRA4_ENST00000509316.1_5'UTR	p.K5N	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			1	997	-			5					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.15G>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722789	0.48728	.	.	ENSG00000109158	ENST00000264318	T	0.81078	-1.45	4.72	3.86	0.44501	.	0.781112	0.11881	N	0.520480	T	0.72187	0.3429	.	.	.	0.32318	N	0.562803	B	0.06786	0.001	B	0.04013	0.001	T	0.70498	-0.4855	9	0.39692	T	0.17	.	10.6191	0.45470	0.0:0.8051:0.1949:0.0	.	5	P48169	GBRA4_HUMAN	N	5	ENSP00000264318:K5N	ENSP00000264318:K5N	K	-	3	2	GABRA4	46690184	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.495000	0.60353	1.167000	0.42706	0.585000	0.79938	AAG		0.602	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			28	50	1	0	9.39395e-14	1	1.21013e-13	28	50				
TRIM68	55128	broad.mit.edu	37	11	4623410	4623410	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4623410G>A	ENST00000300747.5	-	4	1044	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	252					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGCCTCTGCGACCTCTCTTT	0.537																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(754-756)tCg>tTg		tripartite motif containing 68							111.0	108.0	109.0					11																	4623410		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4623410G>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.755C>T	11.37:g.4623410G>A	ENSP00000300747:p.Ser252Leu						p.S252L	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	1044	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	252					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.755C>T	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243248	0.39697	.	.	ENSG00000167333	ENST00000300747;ENST00000526337	T;T	0.04406	3.63;3.63	4.17	3.24	0.37175	.	0.840905	0.09967	N	0.732709	T	0.03263	0.0095	L	0.33753	1.03	0.09310	N	1	P	0.42827	0.791	B	0.34346	0.18	T	0.20874	-1.0262	10	0.11182	T	0.66	.	6.9211	0.24389	0.1253:0.0:0.8747:0.0	.	252	Q6AZZ1	TRI68_HUMAN	L	252;29	ENSP00000300747:S252L;ENSP00000434681:S29L	ENSP00000300747:S252L	S	-	2	0	TRIM68	4579986	0.000000	0.05858	0.023000	0.16930	0.251000	0.25915	0.435000	0.21510	2.249000	0.74217	0.491000	0.48974	TCG		0.537	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		31	47	0	0	0	1	0	31	47				
CEP95	90799	broad.mit.edu	37	17	62530763	62530763	+	Nonsense_Mutation	SNP	C	C	T	rs201158989		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62530763C>T	ENST00000556440.2	+	17	2488	c.1978C>T	c.(1978-1980)Cga>Tga	p.R660*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	660						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAAAGAAAATCGACAGCAAAT	0.413																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(1978-1980)Cga>Tga		centrosomal protein 95kDa							105.0	100.0	102.0					17																	62530763		1873	4102	5975	SO:0001587	stop_gained	90799					centrosome|spindle pole	protein binding	g.chr17:62530763C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1978C>T	17.37:g.62530763C>T	ENSP00000450461:p.Arg660*					CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	p.R660*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			17	2488	+			660					B4DMD2|Q96M81	Nonsense_Mutation	SNP	ENST00000556440.2	37	c.1978C>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	37	6.434597	0.97564	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	.	.	.	5.75	3.7	0.42460	.	0.118551	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1007	14.6377	0.68702	0.3794:0.6206:0.0:0.0	.	.	.	.	X	595;660;496	.	ENSP00000438458:R595X	R	+	1	2	CEP95	59961225	1.000000	0.71417	0.986000	0.45419	0.008000	0.06430	1.149000	0.31626	0.821000	0.34540	0.650000	0.86243	CGA		0.413	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		3	24	0	0	0	1	0	3	24				
TIAM2	26230	broad.mit.edu	37	6	155578064	155578064	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155578064G>T	ENST00000461783.3	+	29	6188	c.4915G>T	c.(4915-4917)Gcc>Tcc	p.A1639S	RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663S|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564S|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639S|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015S|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983S|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668S|TIAM2_ENST00000456877.2_Missense_Mutation_p.A951S|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1639				A -> T (in Ref. 7; BAC86170). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TAAACGAAAAGCCAACAGCAC	0.572																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(4915-4917)Gcc>Tcc		T-cell lymphoma invasion and metastasis 2							65.0	62.0	63.0					6																	155578064		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155578064G>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4915G>T	6.37:g.155578064G>T	ENSP00000437188:p.Ala1639Ser					TIAM2_ENST00000456877.2_Missense_Mutation_p.A951S|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564S|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663S|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983S|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668S|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668S|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639S|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015S	p.A1639S			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	29	6188	+		Ovarian(120;0.196)	1639	A -> T (in Ref. 7; BAC86170).				B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4915G>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387476	0.42308	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.08193	3.6;3.52;3.6;3.41;3.58;3.52;3.41;3.41;3.12	5.86	5.86	0.93980	.	0.226348	0.45126	D	0.000400	T	0.04407	0.0121	L	0.59436	1.845	0.26873	N	0.967717	B;B;B;B	0.25955	0.085;0.138;0.138;0.085	B;B;B;B	0.23150	0.009;0.044;0.044;0.02	T	0.23226	-1.0194	10	0.22109	T	0.4	.	15.4745	0.75468	0.0:0.1373:0.8627:0.0	.	983;1668;1663;1639	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	S	1639;1885;1668;1639;1015;1663;1668;951;983;564	ENSP00000437188:A1639S;ENSP00000407746:A1668S;ENSP00000327315:A1639S;ENSP00000356142:A1015S;ENSP00000353528:A1663S;ENSP00000433348:A1668S;ENSP00000407183:A951S;ENSP00000435335:A983S;ENSP00000275246:A564S	ENSP00000275246:A564S	A	+	1	0	TIAM2	155619756	0.992000	0.36948	0.964000	0.40570	0.986000	0.74619	1.399000	0.34566	2.775000	0.95449	0.655000	0.94253	GCC		0.572	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		5	56	1	0	1.23904e-05	1	1.36503e-05	5	56				
RPS14	6208	broad.mit.edu	37	5	149826514	149826514	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149826514G>A	ENST00000401695.3	-	3	208	c.162C>T	c.(160-162)tgC>tgT	p.C54C	RPS14_ENST00000407193.1_Silent_p.C54C|RPS14_ENST00000312037.5_Silent_p.C54C			P62263	RS14_HUMAN	ribosomal protein S14	54					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCACACGGCAGATGGTTT	0.522																																						ENST00000401695.3																			0				central_nervous_system(1)|lung(1)|skin(1)	3						c.(160-162)tgC>tgT		ribosomal protein S14							106.0	91.0	96.0					5																	149826514		2203	4300	6503	SO:0001819	synonymous_variant	6208				endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity	g.chr5:149826514G>A		CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"""S ribosomal proteins"""	10387	protein-coding gene	gene with protein product	"""emetine resistance"", ""40S ribosomal protein S14"""	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.162C>T	5.37:g.149826514G>A						RPS14_ENST00000312037.5_Silent_p.C54C|RPS14_ENST00000407193.1_Silent_p.C54C	p.C54C			P62263	RS14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	208	-		all_hematologic(541;0.224)	54					B2R5G5|D3DQG5|P06366|Q5BJI0	Silent	SNP	ENST00000401695.3	37	c.162C>T	CCDS4307.1																																																																																				0.522	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252373.1	NM_001025071		23	56	0	0	0	1	0	23	56				
SPTLC1	10558	broad.mit.edu	37	9	94874756	94874756	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94874756C>T	ENST00000262554.2	-	2	151	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.R49Q	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	49					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	AAGATCAGATCGTTCTTGTAA	0.363																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(145-147)cGa>cAa		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						107.0	109.0	108.0					9																	94874756		2203	4299	6502	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94874756C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.146G>A	9.37:g.94874756C>T	ENSP00000262554:p.Arg49Gln					SPTLC1_ENST00000337841.4_Missense_Mutation_p.R49Q|SPTLC1_ENST00000482632.1_5'UTR	p.R49Q	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			2	151	-			49					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.146G>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020430	0.54576	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	T;T	0.69306	-0.39;-0.39	4.55	4.55	0.56014	Pyridoxal phosphate-dependent transferase, major domain (1);	0.064896	0.64402	D	0.000020	T	0.60235	0.2253	L	0.55481	1.735	0.50813	D	0.999898	B;P;P;B	0.44986	0.067;0.847;0.688;0.047	B;B;B;B	0.36567	0.018;0.228;0.157;0.012	T	0.65421	-0.6172	10	0.40728	T	0.16	-13.3301	16.5824	0.84717	0.0:1.0:0.0:0.0	.	49;49;44;49	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	Q	49	ENSP00000262554:R49Q;ENSP00000337635:R49Q	ENSP00000262554:R49Q	R	-	2	0	SPTLC1	93914577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.865000	0.39479	2.517000	0.84864	0.650000	0.86243	CGA		0.363	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		6	19	0	0	0	1	0	6	19				
LRRIQ1	84125	broad.mit.edu	37	12	85439838	85439838	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85439838A>C	ENST00000393217.2	+	5	438	c.377A>C	c.(376-378)aAa>aCa	p.K126T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	126										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGAGAAGTAAAACCGATTGT	0.348																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(376-378)aAa>aCa		leucine-rich repeats and IQ motif containing 1							101.0	94.0	97.0					12																	85439838		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85439838A>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.377A>C	12.37:g.85439838A>C	ENSP00000376910:p.Lys126Thr						p.K126T	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	5	438	+			126					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.377A>C	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.035|9.035	0.988338|0.988338	0.18966|0.18966	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000533414|ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	.|T;T	.|0.51574	.|1.5;0.7	4.17|4.17	-4.94|-4.94	0.03057|0.03057	.|.	1.250630|1.250630	0.05846|0.05846	N|N	0.620265|0.620265	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.33694	.|0.015;0.421;0.011	.|B;B;B	.|0.29785	.|0.012;0.107;0.005	T|T	0.15263|0.15263	-1.0443|-1.0443	7|10	0.21540|0.30078	T|T	0.41|0.28	.|.	1.9598|1.9598	0.03384|0.03384	0.2129:0.4062:0.0976:0.2833|0.2129:0.4062:0.0976:0.2833	.|.	.|126;126;126	.|Q96JM4-2;Q96JM4;C9JI57	.|.;LRIQ1_HUMAN;.	Q|T	24|126	.|ENSP00000376906:K126T;ENSP00000376910:K126T	ENSP00000436898:K24Q|ENSP00000256007:K126T	K|K	+|+	1|2	0|0	LRRIQ1|LRRIQ1	83963969|83963969	0.002000|0.002000	0.14202|0.14202	0.050000|0.050000	0.19076|0.19076	0.180000|0.180000	0.23129|0.23129	0.040000|0.040000	0.13905|0.13905	-0.456000|-0.456000	0.07043|0.07043	-0.446000|-0.446000	0.05623|0.05623	AAA|AAA		0.348	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		17	23	0	0	0	1	0	17	23				
ZCCHC17	51538	broad.mit.edu	37	1	31810034	31810034	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31810034G>A	ENST00000373714.1	+	4	398	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.R22Q|RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.R38Q|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.R46Q	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	46	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		CTGGTCCATCGAACTCATATG	0.438																																						ENST00000373714.1																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6						c.(136-138)cGa>cAa		zinc finger, CCHC domain containing 17							183.0	174.0	177.0					1																	31810034		2203	4300	6503	SO:0001583	missense	51538					nucleolus	RNA binding|zinc ion binding	g.chr1:31810034G>A	AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"""Zinc fingers, CCHC domain containing"""	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.137G>A	1.37:g.31810034G>A	ENSP00000362819:p.Arg46Gln					RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.R22Q|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.R46Q|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.R38Q	p.R46Q			Q9NP64	NO40_HUMAN		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)	4	398	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)	46			S1 motif.		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	c.137G>A	CCDS341.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201501	0.58234	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	6.17	3.29	0.37713	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.431927	0.22414	N	0.060366	T	0.33904	0.0879	L	0.49778	1.585	0.27142	N	0.96162	P;P;B	0.36010	0.532;0.493;0.364	B;B;B	0.38842	0.283;0.095;0.089	T	0.17868	-1.0355	10	0.32370	T	0.25	.	4.5231	0.11969	0.2859:0.0:0.5682:0.1458	.	22;38;46	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	Q	46;46;38;22	ENSP00000343557:R46Q;ENSP00000362819:R46Q;ENSP00000444742:R38Q;ENSP00000391336:R22Q	ENSP00000343557:R46Q	R	+	2	0	ZCCHC17	31582621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.365000	0.44196	0.475000	0.27415	0.655000	0.94253	CGA		0.438	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		33	51	0	0	0	1	0	33	51				
KCNA3	3738	broad.mit.edu	37	1	111216964	111216964	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216964G>A	ENST00000369769.2	-	1	691	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	156					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GGATGGCGTCGAAGCTGGGCC	0.642																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(466-468)ttC>ttT		potassium voltage-gated channel, shaker-related subfamily, member 3							57.0	67.0	64.0					1																	111216964		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216964G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.468C>T	1.37:g.111216964G>A							p.F156F	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	691	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	156					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.468C>T	CCDS828.2																																																																																				0.642	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		53	107	0	0	0	1	0	53	107				
MYO9A	4649	broad.mit.edu	37	15	72190380	72190380	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72190380C>A	ENST00000356056.5	-	25	4936	c.4464G>T	c.(4462-4464)aaG>aaT	p.K1488N	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.K1108N|MYO9A_ENST00000444904.1_Missense_Mutation_p.K1469N|MYO9A_ENST00000564571.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000424560.1_Missense_Mutation_p.K1488N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1488	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCTAACTTCTTAAGCACAG	0.378																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4462-4464)aaG>aaT		myosin IXA							99.0	94.0	95.0					15																	72190380		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72190380C>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4464G>T	15.37:g.72190380C>A	ENSP00000348349:p.Lys1488Asn					MYO9A_ENST00000564571.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000444904.1_Missense_Mutation_p.K1469N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000566885.1_Missense_Mutation_p.K1108N	p.K1488N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4936	-			1488			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.4464G>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230965	0.58777	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84944	-1.92;-1.91;-1.91	5.88	3.94	0.45596	.	.	.	.	.	T	0.76513	0.3998	N	0.14661	0.345	0.36294	D	0.856587	P;P;B	0.46512	0.493;0.879;0.181	B;P;B	0.45829	0.265;0.494;0.031	T	0.81267	-0.1010	9	0.59425	D	0.04	.	10.4552	0.44546	0.0:0.8368:0.0:0.1632	.	1469;1488;1488	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	N	1488;1488;1469	ENSP00000348349:K1488N;ENSP00000399162:K1488N;ENSP00000398250:K1469N	ENSP00000348349:K1488N	K	-	3	2	MYO9A	69977434	1.000000	0.71417	0.994000	0.49952	0.861000	0.49209	2.921000	0.48852	1.413000	0.46997	0.644000	0.83932	AAG		0.378	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		16	42	1	0	6.94344e-10	1	8.4399e-10	16	42				
FAR1	84188	broad.mit.edu	37	11	13733490	13733490	+	Missense_Mutation	SNP	C	C	A	rs150190417		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:13733490C>A	ENST00000354817.3	+	7	928	c.784C>A	c.(784-786)Ctt>Att	p.L262I	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	262					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.L262F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAAAGGAATTCTTCGAACAAT	0.368																																						ENST00000354817.3																			1	Substitution - Missense(1)	p.L262F(1)	skin(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(784-786)Ctt>Att		fatty acyl CoA reductase 1							94.0	86.0	89.0					11																	13733490		2199	4293	6492	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13733490C>A	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.784C>A	11.37:g.13733490C>A	ENSP00000346874:p.Leu262Ile					FAR1_ENST00000527202.1_3'UTR	p.L262I	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN			7	928	+			262					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.784C>A	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340727	0.81911	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.47177	0.85;0.85	5.51	5.51	0.81932	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	L	0.49513	1.565	0.80722	D	1	D;D	0.59767	0.986;0.983	P;P	0.59012	0.85;0.764	T	0.49835	-0.8897	10	0.18276	T	0.48	-9.6833	18.9895	0.92786	0.0:1.0:0.0:0.0	.	262;262	E7ETC1;Q8WVX9	.;FACR1_HUMAN	I	262	ENSP00000346874:L262I;ENSP00000437111:L262I	ENSP00000346874:L262I	L	+	1	0	FAR1	13690066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	2.574000	0.86865	0.591000	0.81541	CTT		0.368	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		10	30	1	0	1.33987e-11	1	1.67053e-11	10	30				
SLC5A4	6527	broad.mit.edu	37	22	32651209	32651209	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32651209A>C	ENST00000266086.4	-	1	119	c.108T>G	c.(106-108)ttT>ttG	p.F36L	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	36					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCACCACCAGAAAATAGATGA	0.542																																						ENST00000266086.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(106-108)ttT>ttG		solute carrier family 5 (glucose activated ion channel), member 4							236.0	203.0	214.0					22																	32651209		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32651209A>C	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.108T>G	22.37:g.32651209A>C	ENSP00000266086:p.Phe36Leu					RP1-90G24.10_ENST00000434942.1_RNA	p.F36L	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN			1	119	-			36					O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.108T>G	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.516284	0.44763	.	.	ENSG00000100191	ENST00000266086	D	0.85258	-1.96	5.26	-3.35	0.04928	.	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	H	0.94306	3.52	0.36741	D	0.882237	B	0.14012	0.009	B	0.17979	0.02	T	0.79184	-0.1908	10	0.62326	D	0.03	.	11.4501	0.50147	0.6838:0.0:0.3162:0.0	.	36	Q9NY91	SC5A4_HUMAN	L	36	ENSP00000266086:F36L	ENSP00000266086:F36L	F	-	3	2	SLC5A4	30981209	0.000000	0.05858	0.014000	0.15608	0.943000	0.58893	-0.272000	0.08560	-0.453000	0.07076	0.528000	0.53228	TTT		0.542	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		76	120	0	0	0	1	0	76	120				
INPP5A	3632	broad.mit.edu	37	10	134563304	134563304	+	Silent	SNP	C	C	T	rs149439109		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:134563304C>T	ENST00000368594.3	+	11	1135	c.858C>T	c.(856-858)ttC>ttT	p.F286F	INPP5A_ENST00000368593.3_Silent_p.F286F	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	286					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGAAACTCTTCGACTACTTCA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18531	0.0		0.0	False		,,,				2504	0.0				Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(856-858)ttC>ttT		inositol polyphosphate-5-phosphatase, 40kDa		C		2,4404	4.2+/-10.8	0,2,2201	128.0	120.0	123.0		858	-6.1	0.6	10	dbSNP_134	123	0,8600		0,0,4300	no	coding-synonymous	INPP5A	NM_005539.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		286/413	134563304	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563304C>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.858C>T	10.37:g.134563304C>T						INPP5A_ENST00000368593.3_Silent_p.F286F	p.F286F	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	11	1135	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	286					D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.858C>T	CCDS7669.2																																																																																				0.582	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		5	153	0	0	0	1	0	5	153				
PCED1B	91523	broad.mit.edu	37	12	47471533	47471533	+	5'Flank	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:47471533T>C	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000550413.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000321382.3_Missense_Mutation_p.Y418C|AMIGO2_ENST00000266581.4_Missense_Mutation_p.Y418C			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TGGAGTCAGATAGAGGTACAA	0.463																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1252-1254)tAt>tGt		adhesion molecule with Ig-like domain 2							128.0	132.0	131.0					12																	47471533		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471533T>C	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471533T>C	Exception_encountered					AMIGO2_ENST00000429635.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000550413.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000321382.3_Missense_Mutation_p.Y418C	p.Y418C	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1719	-	Renal(347;0.138)|Lung SC(27;0.192)		418					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1253A>G	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076148	0.76415	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76027	-0.3109	10	0.87932	D	0	-17.8008	14.7375	0.69427	0.0:0.0:0.0:1.0	.	418	Q86SJ2	AMGO2_HUMAN	C	418	ENSP00000266581:Y418C;ENSP00000449034:Y418C;ENSP00000406020:Y418C;ENSP00000320848:Y418C	ENSP00000266581:Y418C	Y	-	2	0	AMIGO2	45757800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.492000	0.81482	2.212000	0.71576	0.454000	0.30748	TAT		0.463	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		27	34	0	0	0	1	0	27	34				
BRIP1	83990	broad.mit.edu	37	17	59886056	59886056	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:59886056C>T	ENST00000259008.2	-	7	957	c.690G>A	c.(688-690)tcG>tcA	p.S230S	BRIP1_ENST00000577598.1_Silent_p.S230S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	230	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TAATGGTATTCGATGACTCTT	0.408			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(688-690)tcG>tcA	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							92.0	85.0	88.0					17																	59886056		2203	4300	6503	SO:0001819	synonymous_variant	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59886056C>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.690G>A	17.37:g.59886056C>T						BRIP1_ENST00000577598.1_Silent_p.S230S	p.S230S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			7	957	-			230			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.690G>A	CCDS11631.1																																																																																				0.408	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		23	38	0	0	0	1	0	23	38				
EP400	57634	broad.mit.edu	37	12	132479477	132479477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:132479477G>T	ENST00000333577.4	+	13	3020	c.2911G>T	c.(2911-2913)Gaa>Taa	p.E971*	EP400_ENST00000332482.4_Nonsense_Mutation_p.E898*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E934*|EP400_ENST00000330386.6_Nonsense_Mutation_p.E935*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E935*			Q96L91	EP400_HUMAN	E1A binding protein p400	971	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCACCAAACAGAACTTTCTAA	0.373																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2911-2913)Gaa>Taa		E1A binding protein p400							173.0	152.0	159.0					12																	132479477		2203	4300	6503	SO:0001587	stop_gained	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132479477G>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2911G>T	12.37:g.132479477G>T	ENSP00000333602:p.Glu971*					EP400_ENST00000330386.6_Nonsense_Mutation_p.E935*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E935*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E934*|EP400_ENST00000332482.4_Nonsense_Mutation_p.E898*	p.E971*			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	13	3020	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	971			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	37	c.2911G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.049818	0.97236	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6396	0.91390	0.0:0.0:1.0:0.0	.	.	.	.	X	971;935;934;898;935;971;935;935	.	ENSP00000330620:E935X	E	+	1	0	EP400	131045430	1.000000	0.71417	0.366000	0.25914	0.075000	0.17131	9.636000	0.98440	2.415000	0.81967	0.650000	0.86243	GAA		0.373	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		17	73	1	0	3.52763e-06	1	3.92945e-06	17	73				
PKD1L2	114780	broad.mit.edu	37	16	81193409	81193409	+	RNA	SNP	C	C	T	rs369354999		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81193409C>T	ENST00000525539.1	-	0	3713				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAGGATCCACGTGGGCAGCT	0.587																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2		C		1,4053		0,1,2026	33.0	35.0	34.0		3714	-8.5	0.2	16		34	0,8370		0,0,4185	no	coding-synonymous	PKD1L2	NM_052892.3		0,1,6211	TT,TC,CC		0.0,0.0247,0.0080		1238/2460	81193409	1,12423	2027	4185	6212			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81193409C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81193409C>T						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	3713	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			6	12	0	0	0	1	0	6	12				
LRRC7	57554	broad.mit.edu	37	1	70505121	70505121	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:70505121A>C	ENST00000035383.5	+	19	3530	c.3500A>C	c.(3499-3501)aAa>aCa	p.K1167T	LRRC7_ENST00000415775.2_Missense_Mutation_p.K451T|LRRC7_ENST00000310961.5_Missense_Mutation_p.K1172T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1167						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGTTCCTGAAAAGGAATGGC	0.512																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3514-3516)aAa>aCa		leucine rich repeat containing 7							63.0	65.0	64.0					1																	70505121		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505121A>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3500A>C	1.37:g.70505121A>C	ENSP00000035383:p.Lys1167Thr					LRRC7_ENST00000415775.2_Missense_Mutation_p.K451T|LRRC7_ENST00000035383.5_Missense_Mutation_p.K1167T	p.K1172T			Q96NW7	LRRC7_HUMAN			22	3933	+			1167					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3515A>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265276	0.40095	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.40225	1.04;1.12;2.21	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.53249	1.67	0.52501	D	0.999952	D;D;D	0.89917	1.0;0.982;0.999	D;P;D	0.78314	0.987;0.873;0.991	T	0.52931	-0.8509	10	0.51188	T	0.08	.	15.5887	0.76506	1.0:0.0:0.0:0.0	.	451;1167;1167	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	1172;1167;451;990	ENSP00000309245:K1172T;ENSP00000035383:K1167T;ENSP00000394867:K451T	ENSP00000035383:K1167T	K	+	2	0	LRRC7	70277709	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	8.664000	0.91139	2.275000	0.75901	0.528000	0.53228	AAA		0.512	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		23	58	0	0	0	1	0	23	58				
PCNXL4	64430	broad.mit.edu	37	14	60574497	60574497	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:60574497T>G	ENST00000406854.1	+	2	695	c.141T>G	c.(139-141)ctT>ctG	p.L47L	PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Silent_p.L47L|PCNXL4_ENST00000391611.2_Silent_p.L47L|PCNXL4_ENST00000317623.4_Intron			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	47						integral component of membrane (GO:0016021)											AAATTATTCTTTTTCTAATGC	0.413																																						ENST00000406854.1																			0											c.(139-141)ctT>ctG		pecanex-like 4 (Drosophila)							69.0	66.0	67.0					14																	60574497		876	1991	2867	SO:0001819	synonymous_variant	64430							g.chr14:60574497T>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.141T>G	14.37:g.60574497T>G						PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000391611.2_Silent_p.L47L|PCNXL4_ENST00000404681.2_Silent_p.L47L|PCNXL4_ENST00000406949.1_Intron	p.L47L							2	695	+								A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.141T>G																																																																																					0.413	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		21	34	0	0	0	1	0	21	34				
FAM174A	345757	broad.mit.edu	37	5	99871609	99871609	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:99871609G>A	ENST00000312637.4	+	1	601	c.375G>A	c.(373-375)ctG>ctA	p.L125L	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	125						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGCGGGCCCTGACCGTGTTGA	0.682																																						ENST00000312637.4																			0				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(373-375)ctG>ctA		family with sequence similarity 174, member A							31.0	32.0	31.0					5																	99871609		2198	4294	6492	SO:0001819	synonymous_variant	345757					integral to membrane		g.chr5:99871609G>A	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.375G>A	5.37:g.99871609G>A							p.L125L	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN			1	601	+			125					A8K0H4	Silent	SNP	ENST00000312637.4	37	c.375G>A	CCDS4090.1																																																																																				0.682	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507		17	38	0	0	0	1	0	17	38				
GRID1	2894	broad.mit.edu	37	10	87614322	87614322	+	Silent	SNP	C	C	T	rs542721749		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87614322C>T	ENST00000327946.7	-	8	1249	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	388					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CATAGGGATTCGAACTGTCCT	0.488										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1162-1164)tcG>tcA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						140.0	125.0	130.0					10																	87614322		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87614322C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1164G>A	10.37:g.87614322C>T		Multiple Myeloma(13;0.14)					p.S388S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			8	1249	-			388					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.1164G>A	CCDS31236.1																																																																																				0.488	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		29	53	0	0	0	1	0	29	53				
TMEM174	134288	broad.mit.edu	37	5	72469090	72469090	+	Missense_Mutation	SNP	G	G	A	rs142247362	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:72469090G>A	ENST00000296776.5	+	1	69	c.20G>A	c.(19-21)cGc>cAc	p.R7H		NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	7						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GGCAGCGGCCGCTTGGAGGAC	0.552													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17843	0.0		0.0	False		,,,				2504	0.0					ENST00000296776.5																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(19-21)cGc>cAc		transmembrane protein 174		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	117.0	116.0	116.0		20	-0.3	0.0	5	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM174	NM_153217.2	29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	7/244	72469090	4,13002	2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469090G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.20G>A	5.37:g.72469090G>A	ENSP00000296776:p.Arg7His						p.R7H	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	69	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	7					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.20G>A	CCDS4018.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.579	-0.085990	0.07097	4.54E-4	2.33E-4	ENSG00000164325	ENST00000296776	.	.	.	5.82	-0.288	0.12855	.	0.684499	0.14830	N	0.295888	T	0.07593	0.0191	N	0.01576	-0.805	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.30534	-0.9975	9	0.11794	T	0.64	-7.4656	1.8571	0.03181	0.3652:0.2129:0.3132:0.1087	.	7	Q8WUU8	TM174_HUMAN	H	7	.	ENSP00000296776:R7H	R	+	2	0	TMEM174	72504846	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-0.533000	0.06157	-0.127000	0.11661	0.591000	0.81541	CGC		0.552	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		10	148	0	0	0	1	0	10	148				
FBXL4	26235	broad.mit.edu	37	6	99323520	99323520	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99323520A>C	ENST00000369244.2	-	9	1901	c.1473T>G	c.(1471-1473)aaT>aaG	p.N491K	FBXL4_ENST00000229971.1_Missense_Mutation_p.N491K	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	491					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCTCAGTAATATTCTTACATC	0.468																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(1471-1473)aaT>aaG		F-box and leucine-rich repeat protein 4							82.0	82.0	82.0					6																	99323520		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99323520A>C	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1473T>G	6.37:g.99323520A>C	ENSP00000358247:p.Asn491Lys					FBXL4_ENST00000229971.1_Missense_Mutation_p.N491K	p.N491K			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	9	1901	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	491					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.1473T>G	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047535	0.55110	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.03065	4.06;4.06	5.82	-3.36	0.04913	.	0.000000	0.85682	D	0.000000	T	0.04137	0.0115	L	0.45352	1.415	0.58432	D	0.999998	D;B	0.89917	1.0;0.294	D;B	0.91635	0.999;0.034	T	0.18366	-1.0339	10	0.20046	T	0.44	.	14.3284	0.66534	0.3121:0.0:0.6879:0.0	.	491;491	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	K	491	ENSP00000358247:N491K;ENSP00000229971:N491K	ENSP00000229971:N491K	N	-	3	2	FBXL4	99430241	1.000000	0.71417	0.850000	0.33497	0.994000	0.84299	1.099000	0.31013	-0.337000	0.08426	0.482000	0.46254	AAT		0.468	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			11	62	0	0	0	1	0	11	62				
FPGT	8790	broad.mit.edu	37	1	74670325	74670325	+	Silent	SNP	G	G	A	rs186422789		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74670325G>A	ENST00000609362.1	+	4	631	c.594G>A	c.(592-594)acG>acA	p.T198T	FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370894.5_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370898.3_Silent_p.T211T|FPGT-TNNI3K_ENST00000557284.2_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	198					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						CTAGTTTGACGATAGGTACCA	0.373													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18307	0.0		0.0	False		,,,				2504	0.0					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.(592-594)acG>acA		fucose-1-phosphate guanylyltransferase		G	,,,,	2,4404	4.2+/-10.8	0,2,2201	111.0	108.0	109.0		,,,,594	-11.1	0.7	1		109	0,8600		0,0,4300	no	intron,intron,intron,intron,coding-synonymous	FPGT,FPGT-TNNI3K	NM_001112808.2,NM_001199327.1,NM_001199328.1,NM_001199329.1,NM_003838.3	,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,	,,,,198/595	74670325	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8790							g.chr1:74670325G>A	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.594G>A	1.37:g.74670325G>A						FPGT_ENST00000370894.4_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370893.1_Intron	p.T198T	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2					4	631	+								A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	c.594G>A	CCDS663.1																																																																																				0.373	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	29	0	0	0	1	0	12	29				
MAP3K8	1326	broad.mit.edu	37	10	30728192	30728192	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:30728192T>G	ENST00000263056.1	+	3	1021	c.325T>G	c.(325-327)Tta>Gta	p.L109V	MAP3K8_ENST00000542547.1_Missense_Mutation_p.L109V|MAP3K8_ENST00000375321.1_Missense_Mutation_p.L109V|MAP3K8_ENST00000375322.2_Missense_Mutation_p.L109V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	109					cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ATCTGGAATTTTATTAAACAT	0.403																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(325-327)Tta>Gta		mitogen-activated protein kinase kinase kinase 8							67.0	65.0	66.0					10																	30728192		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30728192T>G	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.325T>G	10.37:g.30728192T>G	ENSP00000263056:p.Leu109Val					MAP3K8_ENST00000375321.1_Missense_Mutation_p.L109V|MAP3K8_ENST00000375322.2_Missense_Mutation_p.L109V|MAP3K8_ENST00000542547.1_Missense_Mutation_p.L109V	p.L109V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			3	1021	+		Prostate(175;0.151)	109					A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.325T>G	CCDS7166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.97|14.97	2.694548|2.694548	0.48202|0.48202	.|.	.|.	ENSG00000107968|ENSG00000107968	ENST00000430603|ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000375322;ENST00000413724;ENST00000375321	.|T;T;T;T;T	.|0.71341	.|-0.56;-0.56;4.21;0.99;-0.56	5.41|5.41	1.32|1.32	0.21799|0.21799	.|.	.|0.065377	.|0.64402	.|D	.|0.000008	T|T	0.50017|0.50017	0.1591|0.1591	L|L	0.29908|0.29908	0.895|0.895	0.44825|0.44825	D|D	0.997835|0.997835	.|B	.|0.32031	.|0.352	.|B	.|0.28784	.|0.094	T|T	0.43956|0.43956	-0.9359|-0.9359	5|10	.|0.72032	.|D	.|0.01	.|.	3.0946|3.0946	0.06305|0.06305	0.3247:0.3422:0.0:0.333|0.3247:0.3422:0.0:0.333	.|.	.|109	.|P41279	.|M3K8_HUMAN	L|V	29|109	.|ENSP00000263056:L109V;ENSP00000443610:L109V;ENSP00000409653:L109V;ENSP00000391275:L109V;ENSP00000364470:L109V	.|ENSP00000263056:L109V	F|L	+|+	3|1	2|2	MAP3K8|MAP3K8	30768198|30768198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.143000|1.143000	0.31553|0.31553	0.422000|0.422000	0.26005|0.26005	0.533000|0.533000	0.62120|0.62120	TTT|TTA		0.403	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		25	32	0	0	0	1	0	25	32				
TSPEAR	54084	broad.mit.edu	37	21	45949728	45949728	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45949728G>T	ENST00000323084.4	-	5	808	c.743C>A	c.(742-744)gCt>gAt	p.A248D	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A180D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	248	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCCCGTGAGAGCCTGCAGGAC	0.642																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(742-744)gCt>gAt		thrombospondin-type laminin G domain and EAR repeats							52.0	59.0	57.0					21																	45949728		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949728G>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.743C>A	21.37:g.45949728G>T	ENSP00000321987:p.Ala248Asp					TSPEAR_ENST00000397916.1_Missense_Mutation_p.A180D	p.A248D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			5	808	-			248						Missense_Mutation	SNP	ENST00000323084.4	37	c.743C>A	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	G	4.944	0.175302	0.09391	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.42900	0.96;0.96	5.11	1.57	0.23409	.	0.565693	0.19042	N	0.124263	T	0.09291	0.0229	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30765	-0.9967	10	0.11182	T	0.66	-7.6466	3.5514	0.07848	0.0:0.2334:0.2861:0.4805	.	248	Q8WU66	TSEAR_HUMAN	D	248;180;248	ENSP00000321987:A248D;ENSP00000381012:A180D	ENSP00000321987:A248D	A	-	2	0	TSPEAR	44774156	0.143000	0.22626	0.010000	0.14722	0.935000	0.57460	1.523000	0.35932	0.444000	0.26612	0.491000	0.48974	GCT		0.642	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		15	42	1	0	2.32078e-09	1	2.7896e-09	15	42				
CHIAP2	149620	broad.mit.edu	37	1	111825216	111825216	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111825216C>A	ENST00000369743.4	+	0	1005					NR_003928.1				chitinase, acidic pseudogene 2																		GTTTCCACTCCTGAGAACCAC	0.512																																						ENST00000369743.4																			0																																																			0							g.chr1:111825216C>A			1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111825216C>A								NR_003928.1						0	1005	+									RNA	SNP	ENST00000369743.4	37																																																																																						0.512	CHIAP2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000033667.3			31	61	1	0	1.22384e-17	1	1.64553e-17	31	61				
RP1	6101	broad.mit.edu	37	8	55542167	55542167	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55542167A>G	ENST00000220676.1	+	4	5873	c.5725A>G	c.(5725-5727)Aaa>Gaa	p.K1909E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1909					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCTTTGGATAAACTGTATGC	0.398																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5725-5727)Aaa>Gaa		retinitis pigmentosa 1 (autosomal dominant)							96.0	94.0	95.0					8																	55542167		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542167A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5725A>G	8.37:g.55542167A>G	ENSP00000220676:p.Lys1909Glu						p.K1909E	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5873	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1909						Missense_Mutation	SNP	ENST00000220676.1	37	c.5725A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429650	0.62844	.	.	ENSG00000104237	ENST00000220676	T	0.59083	0.29	5.91	5.91	0.95273	.	0.000000	0.53938	D	0.000053	T	0.65004	0.2650	M	0.71581	2.175	0.27549	N	0.95055	D	0.53619	0.961	P	0.47206	0.541	T	0.66822	-0.5826	10	0.87932	D	0	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1909	P56715	RP1_HUMAN	E	1909	ENSP00000220676:K1909E	ENSP00000220676:K1909E	K	+	1	0	RP1	55704720	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.422000	0.59854	2.261000	0.74972	0.533000	0.62120	AAA		0.398	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		29	40	0	0	0	1	0	29	40				
EIF2S1	1965	broad.mit.edu	37	14	67847476	67847476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:67847476C>T	ENST00000256383.4	+	5	1035	c.574C>T	c.(574-576)Cga>Tga	p.R192*	EIF2S1_ENST00000466499.2_Nonsense_Mutation_p.R192*	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	192					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)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TGTCAAAATTCGAGCAGGTAA	0.318																																						ENST00000256383.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(574-576)Cga>Tga		eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa							43.0	47.0	46.0					14																	67847476		2199	4294	6493	SO:0001587	stop_gained	1965					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity	g.chr14:67847476C>T	J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.574C>T	14.37:g.67847476C>T	ENSP00000256383:p.Arg192*					EIF2S1_ENST00000466499.2_Nonsense_Mutation_p.R192*	p.R192*	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN		all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)	5	1035	+			192						Nonsense_Mutation	SNP	ENST00000256383.4	37	c.574C>T	CCDS9781.1	.	.	.	.	.	.	.	.	.	.	C	43	10.065068	0.99329	.	.	ENSG00000134001	ENST00000256383;ENST00000557310;ENST00000466499	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.461	15.2069	0.73186	0.0:0.9325:0.0:0.0674	.	.	.	.	X	192	.	ENSP00000256383:R192X	R	+	1	2	EIF2S1	66917229	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.798000	0.62510	1.509000	0.48786	0.650000	0.86243	CGA		0.318	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094		12	28	0	0	0	1	0	12	28				
RP1	6101	broad.mit.edu	37	8	55541124	55541124	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55541124A>C	ENST00000220676.1	+	4	4830	c.4682A>C	c.(4681-4683)aAa>aCa	p.K1561T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1561					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGATGGTAAAAATGATGGTG	0.363																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4681-4683)aAa>aCa		retinitis pigmentosa 1 (autosomal dominant)							51.0	54.0	53.0					8																	55541124		2203	4299	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541124A>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4682A>C	8.37:g.55541124A>C	ENSP00000220676:p.Lys1561Thr						p.K1561T	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4830	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1561						Missense_Mutation	SNP	ENST00000220676.1	37	c.4682A>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379358	0.61845	.	.	ENSG00000104237	ENST00000220676	T	0.67171	-0.25	5.84	3.45	0.39498	.	0.116232	0.38381	N	0.001717	T	0.74846	0.3770	M	0.61703	1.905	0.30410	N	0.779182	D	0.76494	0.999	P	0.62435	0.902	T	0.74450	-0.3661	10	0.87932	D	0	-22.8633	10.4295	0.44398	0.8666:0.0:0.1334:0.0	.	1561	P56715	RP1_HUMAN	T	1561	ENSP00000220676:K1561T	ENSP00000220676:K1561T	K	+	2	0	RP1	55703677	1.000000	0.71417	0.992000	0.48379	0.922000	0.55478	2.678000	0.46900	1.040000	0.40099	0.533000	0.62120	AAA		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		17	17	0	0	0	1	0	17	17				
CLTC	1213	broad.mit.edu	37	17	57724861	57724861	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57724861C>T	ENST00000269122.3	+	3	627	c.353C>T	c.(352-354)aCg>aTg	p.T118M	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.T118M	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	118	Globular terminal domain.|WD40-like repeat 3.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCTTTGAATACGGTTGCTCTT	0.403			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(352-354)aCg>aTg		clathrin, heavy chain (Hc)							176.0	158.0	164.0					17																	57724861		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57724861C>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.353C>T	17.37:g.57724861C>T	ENSP00000269122:p.Thr118Met					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.T118M	p.T118M	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			3	627	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		118			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.353C>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434478	0.43224	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.43688	0.94;0.94	5.79	5.79	0.91817	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	L	0.43152	1.355	0.80722	D	1	P;B	0.50528	0.936;0.046	B;B	0.41723	0.365;0.178	T	0.18335	-1.0340	10	0.37606	T	0.19	-19.6478	20.0411	0.97590	0.0:1.0:0.0:0.0	.	118;118	Q00610;Q00610-2	CLH1_HUMAN;.	M	118	ENSP00000269122:T118M;ENSP00000376763:T118M	ENSP00000269122:T118M	T	+	2	0	CLTC	55079643	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	7.818000	0.86416	2.739000	0.93911	0.655000	0.94253	ACG		0.403	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		10	74	0	0	0	1	0	10	74				
NAV3	89795	broad.mit.edu	37	12	78582038	78582038	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78582038C>T	ENST00000397909.2	+	32	5974	c.5801C>T	c.(5800-5802)tCt>tTt	p.S1934F	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.S1735F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1912F|NAV3_ENST00000228327.6_Missense_Mutation_p.S1912F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1934						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACCAAAAATCTCAGGCATAT	0.313										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(5800-5802)tCt>tTt		neuron navigator 3							99.0	93.0	95.0					12																	78582038		1805	4075	5880	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78582038C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5801C>T	12.37:g.78582038C>T	ENSP00000381007:p.Ser1934Phe	HNSCC(70;0.22)				NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.S1912F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1735F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1912F	p.S1934F			Q8IVL0	NAV3_HUMAN			32	5974	+			1934					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5801C>T		.	.	.	.	.	.	.	.	.	.	C	12.11	1.839196	0.32513	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.30448	1.63;1.63;1.63;1.53;2.42	5.73	4.83	0.62350	.	0.196121	0.24912	U	0.034607	T	0.25865	0.0630	L	0.44542	1.39	0.58432	D	0.999995	B;B;B;B	0.32526	0.013;0.189;0.21;0.374	B;B;B;B	0.30495	0.013;0.052;0.068;0.116	T	0.07558	-1.0766	10	0.72032	D	0.01	-6.0325	9.5394	0.39242	0.0:0.6572:0.2718:0.071	.	1912;1735;1934;1912	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	F	1912;1934;1912;1735;526;534	ENSP00000446132:S1912F;ENSP00000381007:S1934F;ENSP00000228327:S1912F;ENSP00000266692:S1735F;ENSP00000448303:S534F	ENSP00000228327:S1912F	S	+	2	0	NAV3	77106169	0.963000	0.33076	1.000000	0.80357	0.227000	0.25037	1.475000	0.35409	1.413000	0.46997	0.585000	0.79938	TCT		0.313	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		19	26	0	0	0	1	0	19	26				
EPHB2	2048	broad.mit.edu	37	1	23219473	23219473	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23219473C>T	ENST00000400191.3	+	7	1543	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	EPHB2_ENST00000374632.3_Missense_Mutation_p.R509W|EPHB2_ENST00000374630.3_Missense_Mutation_p.R509W|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.R504W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	509	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CTTCCAGGTGCGGGCACGCAC	0.607																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1525-1527)Cgg>Tgg		EPH receptor B2							67.0	68.0	68.0					1																	23219473		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23219473C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1525C>T	1.37:g.23219473C>T	ENSP00000383053:p.Arg509Trp					EPHB2_ENST00000374632.3_Missense_Mutation_p.R509W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R504W|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Missense_Mutation_p.R509W	p.R509W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	7	1543	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	509			Fibronectin type-III 2.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1525C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.266548	0.95399	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.075464	0.56097	D	0.000036	T	0.80486	0.4632	M	0.90705	3.14	0.80722	D	1	D;D;D;D	0.76494	0.988;0.999;0.998;0.992	P;D;D;D	0.70016	0.809;0.967;0.967;0.954	D	0.84428	0.0575	10	0.87932	D	0	.	17.5404	0.87845	0.0:1.0:0.0:0.0	.	509;509;527;509	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	W	509;509;509;509;504	ENSP00000363761:R509W;ENSP00000383053:R509W;ENSP00000363763:R509W;ENSP00000363758:R504W	ENSP00000363755:R509W	R	+	1	2	EPHB2	23092060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.781000	0.68964	2.723000	0.93209	0.655000	0.94253	CGG		0.607	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		37	69	0	0	0	1	0	37	69				
MID2	11043	broad.mit.edu	37	X	107169924	107169924	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107169924A>G	ENST00000262843.6	+	10	2377	c.1829A>G	c.(1828-1830)aAa>aGa	p.K610R	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.K580R	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	610	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTGCCTACAAATCAGCTCCA	0.398																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1828-1830)aAa>aGa		midline 2							91.0	74.0	80.0					X																	107169924		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107169924A>G		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1829A>G	X.37:g.107169924A>G	ENSP00000262843:p.Lys610Arg					RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.K580R	p.K610R	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			10	2377	+			610			B30.2/SPRY.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1829A>G	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766988	0.31320	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.61859	0.07;0.07	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.33753	1.03	0.51012	D	0.999903	B;B	0.26512	0.151;0.007	B;B	0.33690	0.168;0.008	T	0.40175	-0.9577	10	0.20046	T	0.44	.	12.1583	0.54089	1.0:0.0:0.0:0.0	.	610;580	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	R	610;580	ENSP00000262843:K610R;ENSP00000413976:K580R	ENSP00000262843:K610R	K	+	2	0	MID2	107056580	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.798000	0.91888	1.775000	0.52247	0.417000	0.27973	AAA		0.398	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		36	50	0	0	0	1	0	36	50				
AFF3	3899	broad.mit.edu	37	2	100210589	100210589	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100210589C>T	ENST00000409236.2	-	13	1646	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	AFF3_ENST00000409579.1_Missense_Mutation_p.D537N|AFF3_ENST00000317233.4_Missense_Mutation_p.D512N|AFF3_ENST00000356421.2_Missense_Mutation_p.D537N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	512					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGCAAACGTCGGGGACTTTC	0.547																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1534-1536)Gac>Aac		AF4/FMR2 family, member 3							122.0	125.0	124.0					2																	100210589		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210589C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1534G>A	2.37:g.100210589C>T	ENSP00000387207:p.Asp512Asn					AFF3_ENST00000409236.1_Missense_Mutation_p.D512N|AFF3_ENST00000409579.1_Missense_Mutation_p.D537N|AFF3_ENST00000356421.2_Missense_Mutation_p.D537N	p.D512N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	1769	-			512					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1534G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	0.060	-1.226335	0.01518	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.87	3.99	0.46301	.	0.916266	0.09283	N	0.823402	T	0.40272	0.1110	N	0.17082	0.46	0.09310	N	1	P;B;B	0.44816	0.844;0.048;0.371	B;B;B	0.35114	0.196;0.007;0.034	T	0.10894	-1.0610	10	0.38643	T	0.18	.	6.5617	0.22489	0.1199:0.5829:0.2266:0.0707	.	665;512;537	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	N	512;537;537;512;512;665;537	ENSP00000317421:D512N;ENSP00000348793:D537N;ENSP00000386834:D537N;ENSP00000387207:D512N	ENSP00000317421:D512N	D	-	1	0	AFF3	99577021	0.003000	0.15002	0.094000	0.20943	0.292000	0.27327	0.711000	0.25764	2.781000	0.95711	0.655000	0.94253	GAC		0.547	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		61	120	0	0	0	1	0	61	120				
PLEKHG3	26030	broad.mit.edu	37	14	65208583	65208583	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:65208583C>T	ENST00000394691.1	+	16	2495	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S316L|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S288L|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.S727L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	783							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGCCGACTTCGTGGGCCCTG	0.592																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2179-2181)tCg>tTg		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							59.0	71.0	67.0					14																	65208583		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208583C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2348C>T	14.37:g.65208583C>T	ENSP00000378183:p.Ser783Leu					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S783L|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S316L|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S288L	p.S727L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	2488	+			783	YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298).				A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2180C>T		.	.	.	.	.	.	.	.	.	.	C	19.94	3.919070	0.73098	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.63580	0.41;-0.05;1.32;1.32	5.85	5.85	0.93711	.	0.000000	0.56097	D	0.000040	T	0.68393	0.2996	L	0.52364	1.645	0.25989	N	0.982274	D;P;P;D	0.64830	0.988;0.953;0.878;0.994	P;B;B;P	0.51266	0.654;0.116;0.274;0.664	T	0.65450	-0.6165	10	0.72032	D	0.01	.	18.9268	0.92548	0.0:1.0:0.0:0.0	.	316;288;783;727	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	L	727;783;316;288	ENSP00000247226:S727L;ENSP00000378183:S783L;ENSP00000450945:S316L;ENSP00000450973:S288L	ENSP00000247226:S727L	S	+	2	0	PLEKHG3	64278336	0.004000	0.15560	0.137000	0.22149	0.920000	0.55202	1.038000	0.30254	2.775000	0.95449	0.655000	0.94253	TCG		0.592	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		48	62	0	0	0	1	0	48	62				
KIF20B	9585	broad.mit.edu	37	10	91479274	91479274	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91479274A>C	ENST00000371728.3	+	13	1598	c.1533A>C	c.(1531-1533)aaA>aaC	p.K511N	KIF20B_ENST00000416354.1_Missense_Mutation_p.K511N|KIF20B_ENST00000394289.2_Missense_Mutation_p.K511N|KIF20B_ENST00000260753.4_Missense_Mutation_p.K511N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	511					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CAAACAGTAAAATATTAAATG	0.353																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(1531-1533)aaA>aaC		kinesin family member 20B							38.0	41.0	40.0					10																	91479274		2202	4300	6502	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91479274A>C	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1533A>C	10.37:g.91479274A>C	ENSP00000360793:p.Lys511Asn					KIF20B_ENST00000394289.2_Missense_Mutation_p.K511N|KIF20B_ENST00000371728.3_Missense_Mutation_p.K511N|KIF20B_ENST00000260753.4_Missense_Mutation_p.K511N	p.K511N			Q96Q89	KI20B_HUMAN			13	1605	+			511					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.1533A>C		.	.	.	.	.	.	.	.	.	.	A	12.58	1.980543	0.34942	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000035	T	0.54663	0.1872	M	0.71581	2.175	0.34033	D	0.654078	P;D	0.71674	0.539;0.998	B;D	0.66351	0.132;0.943	T	0.64118	-0.6482	10	0.20046	T	0.44	-28.3628	6.6667	0.23044	0.7657:0.1552:0.079:0.0	.	511;511	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	511	ENSP00000260753:K511N;ENSP00000411545:K511N;ENSP00000377830:K511N;ENSP00000360793:K511N	ENSP00000260753:K511N	K	+	3	2	KIF20B	91469254	1.000000	0.71417	0.964000	0.40570	0.125000	0.20455	3.322000	0.52007	2.054000	0.61138	0.377000	0.23210	AAA		0.353	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		11	20	0	0	0	1	0	11	20				
PRDM9	56979	broad.mit.edu	37	5	23522975	23522975	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:23522975A>G	ENST00000296682.3	+	8	1045	c.863A>G	c.(862-864)aAc>aGc	p.N288S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	288	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGGCAGCCAACAATGGATAC	0.527										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(862-864)aAc>aGc		PR domain containing 9							76.0	79.0	78.0					5																	23522975		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522975A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.863A>G	5.37:g.23522975A>G	ENSP00000296682:p.Asn288Ser	HNSCC(3;0.000094)					p.N288S	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	1045	+			288			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.863A>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	4.037	0.004417	0.07866	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.78003	-1.14	4.14	2.95	0.34219	SET domain (2);	0.189446	0.25817	N	0.028118	T	0.69324	0.3098	L	0.52823	1.66	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.61715	-0.7006	10	0.59425	D	0.04	-12.9	6.5786	0.22581	0.8828:0.0:0.1172:0.0	.	288	Q9NQV7	PRDM9_HUMAN	S	288;82	ENSP00000296682:N288S	ENSP00000253473:N82S	N	+	2	0	PRDM9	23558732	0.023000	0.18921	0.947000	0.38551	0.271000	0.26615	0.480000	0.22244	0.560000	0.29169	-0.331000	0.08364	AAC		0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		38	71	0	0	0	1	0	38	71				
BRWD3	254065	broad.mit.edu	37	X	79979252	79979252	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79979252C>T	ENST00000373275.4	-	16	1861	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	549					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ctaacctttTCGTAGTATTTA	0.343																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1645-1647)Gaa>Aaa		bromodomain and WD repeat domain containing 3							71.0	65.0	67.0					X																	79979252		2202	4300	6502	SO:0001583	missense	254065							g.chrX:79979252C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1645G>A	X.37:g.79979252C>T	ENSP00000362372:p.Glu549Lys						p.E549K	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			16	1861	-			549					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1645G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	8.925	0.961971	0.18583	.	.	ENSG00000165288	ENST00000373275	T	0.39229	1.09	4.5	3.64	0.41730	.	0.056287	0.64402	N	0.000002	T	0.28566	0.0707	L	0.39245	1.2	0.48087	D	0.999583	B	0.33073	0.396	B	0.22880	0.042	T	0.05241	-1.0897	9	.	.	.	-17.7997	10.4548	0.44544	0.0:0.9065:0.0:0.0935	.	549	Q6RI45	BRWD3_HUMAN	K	549	ENSP00000362372:E549K	.	E	-	1	0	BRWD3	79865908	1.000000	0.71417	0.996000	0.52242	0.583000	0.36354	5.631000	0.67812	0.911000	0.36747	-0.426000	0.05927	GAA		0.343	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		16	24	0	0	0	1	0	16	24				
TRPM8	79054	broad.mit.edu	37	2	234878372	234878372	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234878372T>C	ENST00000324695.4	+	16	2099	c.2059T>C	c.(2059-2061)Tcc>Ccc	p.S687P	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	687					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGAGAGATTTCCCGAGACAC	0.398																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2059-2061)Tcc>Ccc		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						229.0	211.0	217.0					2																	234878372		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234878372T>C	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2059T>C	2.37:g.234878372T>C	ENSP00000323926:p.Ser687Pro					TRPM8_ENST00000433712.2_Intron	p.S687P	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	16	2099	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	687					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2059T>C	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618549	0.66787	.	.	ENSG00000144481	ENST00000324695	T	0.63913	-0.07	5.42	4.26	0.50523	.	0.211314	0.34025	N	0.004334	T	0.71434	0.3339	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.71013	-0.4715	10	0.54805	T	0.06	-31.6766	10.2401	0.43308	0.0:0.0783:0.0:0.9217	.	687	Q7Z2W7	TRPM8_HUMAN	P	687	ENSP00000323926:S687P	ENSP00000323926:S687P	S	+	1	0	TRPM8	234543111	1.000000	0.71417	0.994000	0.49952	0.872000	0.50106	5.926000	0.70070	0.914000	0.36822	-0.262000	0.10625	TCC		0.398	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		28	65	0	0	0	1	0	28	65				
DNAJB9	4189	broad.mit.edu	37	7	108212299	108212299	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:108212299G>T	ENST00000249356.3	+	2	675	c.129G>T	c.(127-129)aaG>aaT	p.K43N	THAP5_ENST00000313516.5_5'Flank|THAP5_ENST00000438865.1_5'Flank|THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000493722.1_5'Flank|DNAJB9_ENST00000465725.1_3'UTR	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	43	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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						GCCAAATCAAGAAGGCCTTTC	0.398																																						ENST00000249356.3																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(127-129)aaG>aaT		DnaJ (Hsp40) homolog, subfamily B, member 9							105.0	114.0	111.0					7																	108212299		2203	4300	6503	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108212299G>T	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.129G>T	7.37:g.108212299G>T	ENSP00000249356:p.Lys43Asn					DNAJB9_ENST00000465725.1_3'UTR	p.K43N	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN			2	675	+			43			J.			Missense_Mutation	SNP	ENST00000249356.3	37	c.129G>T	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100798	0.76983	.	.	ENSG00000128590	ENST00000249356	T	0.81078	-1.45	5.34	4.45	0.53987	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	D	0.89283	0.6671	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89217	0.3568	9	.	.	.	.	8.6756	0.34176	0.1739:0.0:0.826:0.0	.	43	Q9UBS3	DNJB9_HUMAN	N	43	ENSP00000249356:K43N	.	K	+	3	2	DNAJB9	107999535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.281000	0.51685	1.212000	0.43366	0.563000	0.77884	AAG		0.398	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			46	87	1	0	8.86878e-18	1	1.19361e-17	46	87				
SLC6A3	6531	broad.mit.edu	37	5	1420693	1420693	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1420693G>A	ENST00000270349.9	-	6	1045	c.918C>T	c.(916-918)tgC>tgT	p.C306C	SLC6A3_ENST00000453492.2_Silent_p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	306					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGACGCCTCGCAGAGCCGGT	0.592																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(916-918)tgC>tgT		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						120.0	108.0	112.0					5																	1420693		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1420693G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.918C>T	5.37:g.1420693G>A						SLC6A3_ENST00000453492.2_Silent_p.C306C	p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		6	1045	-			306					A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.918C>T	CCDS3863.1																																																																																				0.592	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		49	88	0	0	0	1	0	49	88				
IER5L	389792	broad.mit.edu	37	9	131939486	131939486	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:131939486G>A	ENST00000372491.2	-	1	1054	c.846C>T	c.(844-846)tgC>tgT	p.C282C	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	282													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CACAGCAGGGGCAGTGGGCGG	0.682																																						ENST00000372491.2																			0											c.(844-846)tgC>tgT		immediate early response 5-like							19.0	23.0	22.0					9																	131939486		1954	4103	6057	SO:0001819	synonymous_variant	389792							g.chr9:131939486G>A	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.846C>T	9.37:g.131939486G>A						RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	p.C282C	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	1	1054	-		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)	282					Q6P3E2	Silent	SNP	ENST00000372491.2	37	c.846C>T	CCDS43888.1																																																																																				0.682	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2			6	18	0	0	0	1	0	6	18				
PIK3C3	5289	broad.mit.edu	37	18	39567792	39567792	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:39567792G>A	ENST00000262039.4	+	5	634	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	PIK3C3_ENST00000398870.3_Missense_Mutation_p.R120Q	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	183	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAAGCTCATCGACAAGGACAC	0.328										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(547-549)cGa>cAa		phosphatidylinositol 3-kinase, catalytic subunit type 3							103.0	104.0	104.0					18																	39567792		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39567792G>A	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.548G>A	18.37:g.39567792G>A	ENSP00000262039:p.Arg183Gln	TSP Lung(28;0.18)				PIK3C3_ENST00000398870.3_Missense_Mutation_p.R120Q	p.R183Q	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			5	634	+			183					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.548G>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450784	0.84101	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.75704	-0.96;-0.96	5.66	5.66	0.87406	Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	L	0.48986	1.54	0.80722	D	1	P;P	0.43412	0.69;0.806	B;B	0.33690	0.168;0.168	T	0.68731	-0.5331	9	.	.	.	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	120;183	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	Q	183;120	ENSP00000262039:R183Q;ENSP00000381845:R120Q	.	R	+	2	0	PIK3C3	37821790	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.781000	0.99029	2.826000	0.97356	0.655000	0.94253	CGA		0.328	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		14	45	0	0	0	1	0	14	45				
KEL	3792	broad.mit.edu	37	7	142651036	142651036	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142651036G>A	ENST00000355265.2	-	9	1406	c.932C>T	c.(931-933)gCc>gTc	p.A311V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	311					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GATGGCGGGGGCCATTTCCTT	0.527																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(931-933)gCc>gTc		Kell blood group, metallo-endopeptidase							71.0	70.0	70.0					7																	142651036		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651036G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.932C>T	7.37:g.142651036G>A	ENSP00000347409:p.Ala311Val					KEL_ENST00000479768.2_5'UTR	p.A311V	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			9	1406	-	Melanoma(164;0.059)		311					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.932C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091902	0.76756	.	.	ENSG00000197993	ENST00000355265	T	0.73363	-0.74	5.9	4.1	0.47936	Peptidase M13 (1);	0.102550	0.42964	D	0.000622	T	0.69233	0.3088	M	0.64170	1.965	0.40667	D	0.982187	P	0.44659	0.84	P	0.47162	0.54	T	0.69562	-0.5112	10	0.02654	T	1	-8.3465	8.1419	0.31089	0.1759:0.0:0.8241:0.0	.	311	P23276	KELL_HUMAN	V	311	ENSP00000347409:A311V	ENSP00000347409:A311V	A	-	2	0	KEL	142361158	0.998000	0.40836	1.000000	0.80357	0.898000	0.52572	3.041000	0.49807	1.525000	0.49052	0.478000	0.44815	GCC		0.527	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		32	66	0	0	0	1	0	32	66				
SALL3	27164	broad.mit.edu	37	18	76754412	76754412	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:76754412C>T	ENST00000537592.2	+	2	2421	c.2421C>T	c.(2419-2421)gaC>gaT	p.D807D	SALL3_ENST00000575389.2_Silent_p.D807D|SALL3_ENST00000536229.3_Silent_p.D674D	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	807					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCATGGAGGACGACGCTGAGC	0.652																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2020-2022)gaC>gaT		spalt-like transcription factor 3							56.0	55.0	55.0					18																	76754412		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754412C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2421C>T	18.37:g.76754412C>T						SALL3_ENST00000537592.2_Silent_p.D807D|SALL3_ENST00000575389.2_Silent_p.D807D	p.D674D			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2731	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	807					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2022C>T	CCDS12013.1																																																																																				0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		15	25	0	0	0	1	0	15	25				
KLHL13	90293	broad.mit.edu	37	X	117043459	117043459	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117043459G>T	ENST00000262820.3	-	5	2080	c.1171C>A	c.(1171-1173)Ctc>Atc	p.L391I	KLHL13_ENST00000371882.1_Missense_Mutation_p.L340I|KLHL13_ENST00000371876.1_Missense_Mutation_p.L340I|KLHL13_ENST00000540167.1_Missense_Mutation_p.L375I|KLHL13_ENST00000545703.1_Missense_Mutation_p.L349I|KLHL13_ENST00000541812.1_Missense_Mutation_p.L375I|KLHL13_ENST00000469946.1_Missense_Mutation_p.L340I|KLHL13_ENST00000371878.1_Missense_Mutation_p.L340I|KLHL13_ENST00000539496.1_Missense_Mutation_p.L394I	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	391					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACCACATAGAGAAAATTTCCA	0.443																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1018-1020)Ctc>Atc		kelch-like family member 13							104.0	90.0	94.0					X																	117043459		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043459G>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1171C>A	X.37:g.117043459G>T	ENSP00000262820:p.Leu391Ile					KLHL13_ENST00000262820.3_Missense_Mutation_p.L391I|KLHL13_ENST00000541812.1_Missense_Mutation_p.L375I|KLHL13_ENST00000371878.1_Missense_Mutation_p.L340I|KLHL13_ENST00000539496.1_Missense_Mutation_p.L394I|KLHL13_ENST00000545703.1_Missense_Mutation_p.L349I|KLHL13_ENST00000371882.1_Missense_Mutation_p.L340I|KLHL13_ENST00000469946.1_Missense_Mutation_p.L340I|KLHL13_ENST00000540167.1_Missense_Mutation_p.L375I	p.L340I			Q9P2N7	KLH13_HUMAN			4	3439	-			391					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1018C>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460326	0.84317	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.02	5.02	0.67125	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	L	0.38953	1.18	0.80722	D	1	D;D;D;D	0.89917	0.985;1.0;0.966;0.972	P;D;P;P	0.91635	0.868;0.999;0.747;0.836	T	0.79381	-0.1827	10	0.49607	T	0.09	.	17.4247	0.87524	0.0:0.0:1.0:0.0	.	375;394;385;391	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	I	340;340;340;340;375;375;394;391;349;340	ENSP00000360949:L340I;ENSP00000360943:L340I;ENSP00000360945:L340I;ENSP00000412640:L340I;ENSP00000444450:L375I;ENSP00000441029:L375I;ENSP00000443191:L394I;ENSP00000262820:L391I;ENSP00000440707:L349I;ENSP00000419803:L340I	ENSP00000262820:L391I	L	-	1	0	KLHL13	116927487	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.480000	0.81109	2.297000	0.77311	0.594000	0.82650	CTC		0.443	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		28	52	1	0	9.39395e-14	1	1.21013e-13	28	52				
ZNF646	9726	broad.mit.edu	37	16	31087953	31087953	+	Missense_Mutation	SNP	G	G	A	rs371981304		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31087953G>A	ENST00000394979.2	+	1	731	c.308G>A	c.(307-309)cGc>cAc	p.R103H	ZNF668_ENST00000300849.4_5'Flank|ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.R103H			O15015	ZN646_HUMAN	zinc finger protein 646	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGGGCCGCCGCAGGCACAGG	0.617																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(307-309)cGc>cAc		zinc finger protein 646		G	HIS/ARG	0,4394		0,0,2197	37.0	36.0	37.0		308	2.6	0.8	16		37	2,8598	1.2+/-3.3	0,2,4298	no	missense	ZNF646	NM_014699.3	29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	103/1833	31087953	2,12992	2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087953G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.308G>A	16.37:g.31087953G>A	ENSP00000378429:p.Arg103His					ZNF646_ENST00000300850.5_Missense_Mutation_p.R103H	p.R103H			O15015	ZN646_HUMAN			1	731	+			103					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.308G>A		.	.	.	.	.	.	.	.	.	.	G	10.70	1.423778	0.25639	0.0	2.33E-4	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.10005	3.22;2.92;2.94	5.65	2.56	0.30785	.	.	.	.	.	T	0.04815	0.0130	N	0.14661	0.345	0.09310	N	1	P	0.37398	0.593	B	0.27715	0.082	T	0.35325	-0.9793	9	0.40728	T	0.16	-10.9939	4.9254	0.13891	0.2974:0.0:0.5643:0.1383	.	103	O15015-2	.	H	103	ENSP00000391271:R103H;ENSP00000300850:R103H;ENSP00000378429:R103H	ENSP00000300850:R103H	R	+	2	0	ZNF646	30995454	0.001000	0.12720	0.804000	0.32291	0.965000	0.64279	-0.101000	0.10973	0.712000	0.32039	0.563000	0.77884	CGC		0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		30	32	0	0	0	1	0	30	32				
ACE	1636	broad.mit.edu	37	17	61555323	61555323	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61555323C>T	ENST00000290866.4	+	2	305	c.281C>T	c.(280-282)gCg>gTg	p.A94V	ACE_ENST00000538928.1_Missense_Mutation_p.A94V|ACE_ENST00000428043.1_Missense_Mutation_p.A94V|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	94	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGGAGTTTGCGGAGGCCTGG	0.617																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(280-282)gCg>gTg		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						31.0	29.0	30.0					17																	61555323		2201	4300	6501	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61555323C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.281C>T	17.37:g.61555323C>T	ENSP00000290866:p.Ala94Val					ACE_ENST00000538928.1_Missense_Mutation_p.A94V|ACE_ENST00000428043.1_Missense_Mutation_p.A94V|ACE_ENST00000584529.1_3'UTR	p.A94V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			2	305	+			94			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.281C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069333	0.36470	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.37235	1.21;1.21;1.21	5.37	2.15	0.27550	.	0.866163	0.10222	N	0.700835	T	0.20941	0.0504	L	0.28344	0.845	0.09310	N	0.999996	B;B;B	0.23735	0.074;0.008;0.09	B;B;B	0.19148	0.002;0.001;0.024	T	0.31364	-0.9946	10	0.11794	T	0.64	-0.496	5.7963	0.18389	0.4334:0.4223:0.0:0.1443	.	94;94;94	F5H1K1;B4DU66;P12821	.;.;ACE_HUMAN	V	94	ENSP00000439591:A94V;ENSP00000290866:A94V;ENSP00000397593:A94V	ENSP00000290866:A94V	A	+	2	0	ACE	58909055	0.000000	0.05858	0.002000	0.10522	0.433000	0.31745	0.749000	0.26320	0.269000	0.21961	0.561000	0.74099	GCG		0.617	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	14	0	0	0	1	0	7	14				
TDRD6	221400	broad.mit.edu	37	6	46660805	46660805	+	Missense_Mutation	SNP	C	C	A	rs566706416	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46660805C>A	ENST00000316081.6	+	1	4940	c.4940C>A	c.(4939-4941)tCt>tAt	p.S1647Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.S1647Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1647					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGATTATGTTCTCAAGAGGGA	0.393																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4939-4941)tCt>tAt		tudor domain containing 6							75.0	78.0	77.0					6																	46660805		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660805C>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4940C>A	6.37:g.46660805C>A	ENSP00000346065:p.Ser1647Tyr					TDRD6_ENST00000316081.6_Missense_Mutation_p.S1647Y	p.S1647Y	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5194	+			1647					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4940C>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237898	0.39598	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.17370	2.28;2.3	5.88	5.01	0.66863	.	0.553031	0.19170	N	0.120945	T	0.09113	0.0225	L	0.38175	1.15	0.09310	N	1	D;D	0.57571	0.975;0.98	P;P	0.51193	0.662;0.547	T	0.13818	-1.0495	10	0.66056	D	0.02	-10.9422	5.9786	0.19395	0.1414:0.6461:0.1367:0.0758	.	1647;1647	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1647	ENSP00000443299:S1647Y;ENSP00000346065:S1647Y	ENSP00000346065:S1647Y	S	+	2	0	TDRD6	46768764	0.256000	0.24012	0.996000	0.52242	0.554000	0.35429	1.359000	0.34113	1.475000	0.48197	0.655000	0.94253	TCT		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		26	50	1	0	3.73148e-12	1	4.68978e-12	26	50				
CACNA1F	778	broad.mit.edu	37	X	49061728	49061728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49061728C>A	ENST00000376265.2	-	48	5864	c.5803G>T	c.(5803-5805)Gag>Tag	p.E1935*	AF196779.1_ENST00000583131.1_RNA|CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.E1870*|SYP-AS1_ENST00000433499.1_RNA|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.E1924*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1935					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGTCCATCTCATCCAGCGTC	0.592																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(5803-5805)Gag>Tag		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						95.0	55.0	69.0					X																	49061728		2203	4300	6503	SO:0001587	stop_gained	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49061728C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5803G>T	X.37:g.49061728C>A	ENSP00000365441:p.Glu1935*					CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.E1870*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.E1924*	p.E1935*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			48	5864	-			1935					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	ENST00000376265.2	37	c.5803G>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	45	11.548704	0.99574	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.4365	0.83877	0.0:1.0:0.0:0.0	.	.	.	.	X	1870;1924;1935	.	ENSP00000321618:E1924X	E	-	1	0	CACNA1F	48948672	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.779000	0.68948	2.223000	0.72356	0.529000	0.55759	GAG		0.592	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		14	30	1	0	4.93089e-13	1	6.29573e-13	14	30				
KBTBD7	84078	broad.mit.edu	37	13	41767897	41767897	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41767897C>T	ENST00000379483.3	-	1	805	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	166										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTCAAGACGTCGGGCTAAGAA	0.572																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(496-498)cGa>cAa		kelch repeat and BTB (POZ) domain containing 7							108.0	94.0	99.0					13																	41767897		2203	4298	6501	SO:0001583	missense	84078						protein binding	g.chr13:41767897C>T	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.497G>A	13.37:g.41767897C>T	ENSP00000368797:p.Arg166Gln						p.R166Q	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	805	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	166					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.497G>A	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784650	0.70222	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.70869	-0.52	5.42	4.58	0.56647	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	U	0.000001	T	0.76399	0.3982	L	0.35793	1.09	0.40204	D	0.977551	D	0.89917	1.0	D	0.87578	0.998	T	0.78102	-0.2335	10	0.56958	D	0.05	.	12.1492	0.54040	0.0:0.9157:0.0:0.0843	.	166	Q8WVZ9	KBTB7_HUMAN	Q	166;68	ENSP00000368797:R166Q	ENSP00000368797:R166Q	R	-	2	0	KBTBD7	40665897	1.000000	0.71417	0.967000	0.41034	0.893000	0.52053	4.450000	0.60041	1.281000	0.44480	0.563000	0.77884	CGA		0.572	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		38	64	0	0	0	1	0	38	64				
RAB38	23682	broad.mit.edu	37	11	87847193	87847193	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:87847193G>A	ENST00000243662.6	-	3	681	c.599C>T	c.(598-600)aCc>aTc	p.T200I	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	200					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCAACCTTGGTTGATGTGAG	0.493																																						ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(598-600)aCc>aTc		RAB38, member RAS oncogene family							144.0	134.0	137.0					11																	87847193		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87847193G>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.599C>T	11.37:g.87847193G>A	ENSP00000243662:p.Thr200Ile					RP11-164N3.3_ENST00000528458.1_RNA	p.T200I	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			3	681	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	200					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.599C>T	CCDS8281.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290463	0.23478	.	.	ENSG00000123892	ENST00000243662	T	0.70749	-0.51	5.47	5.47	0.80525	.	0.778199	0.12649	N	0.450628	T	0.53530	0.1802	N	0.08118	0	0.25473	N	0.98781	B	0.06786	0.001	B	0.10450	0.005	T	0.24048	-1.0171	9	.	.	.	-0.3234	17.1709	0.86830	0.0:0.0:1.0:0.0	.	200	P57729	RAB38_HUMAN	I	200	ENSP00000243662:T200I	.	T	-	2	0	RAB38	87486841	1.000000	0.71417	0.178000	0.23040	0.077000	0.17291	3.316000	0.51960	2.724000	0.93272	0.650000	0.86243	ACC		0.493	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			39	66	0	0	0	1	0	39	66				
ZNF567	163081	broad.mit.edu	37	19	37210849	37210849	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37210849T>G	ENST00000536254.2	+	6	1445	c.1223T>G	c.(1222-1224)cTt>cGt	p.L408R	ZNF567_ENST00000360729.4_Missense_Mutation_p.L377R|ZNF567_ENST00000588311.1_Missense_Mutation_p.L377R|ZNF567_ENST00000585696.1_Missense_Mutation_p.L377R|ZNF567_ENST00000392163.2_Missense_Mutation_p.L377R|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	408					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGGCAAATCTTACTGTACAT	0.423																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1129-1131)cTt>cGt		zinc finger protein 567							58.0	63.0	61.0					19																	37210849		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210849T>G	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1223T>G	19.37:g.37210849T>G	ENSP00000441838:p.Leu408Arg					ZNF567_ENST00000360729.4_Missense_Mutation_p.L377R|ZNF567_ENST00000392163.2_Missense_Mutation_p.L377R|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.L377R|ZNF567_ENST00000536254.2_Missense_Mutation_p.L408R	p.L377R			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2360	+	Esophageal squamous(110;0.198)		408					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1130T>G		.	.	.	.	.	.	.	.	.	.	T	18.21	3.574503	0.65878	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.53640	0.61;0.61;0.61	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38837	N	0.001554	T	0.71617	0.3361	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.77245	-0.2659	10	0.87932	D	0	.	13.0296	0.58835	0.0:0.0:0.0:1.0	.	408;377	Q8N184;F8WEL6	ZN567_HUMAN;.	R	408;352;377;407;377	ENSP00000441838:L408R;ENSP00000353957:L377R;ENSP00000376003:L377R	ENSP00000353957:L377R	L	+	2	0	ZNF567	41902689	0.965000	0.33210	1.000000	0.80357	0.989000	0.77384	7.030000	0.76484	2.176000	0.68965	0.459000	0.35465	CTT		0.423	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		24	35	0	0	0	1	0	24	35				
SLC22A3	6581	broad.mit.edu	37	6	160831867	160831867	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160831867A>C	ENST00000275300.2	+	5	1116	c.964A>C	c.(964-966)Aat>Cat	p.N322H	SLC22A3_ENST00000392145.1_Missense_Mutation_p.N322H	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	322					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CCTCTCATCAAATTACTCAGA	0.383																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(964-966)Aat>Cat		solute carrier family 22 (organic cation transporter), member 3							48.0	47.0	47.0					6																	160831867		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160831867A>C	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.964A>C	6.37:g.160831867A>C	ENSP00000275300:p.Asn322His					SLC22A3_ENST00000275300.2_Missense_Mutation_p.N322H	p.N322H			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	5	991	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	322					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.964A>C	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	A	1.036	-0.680243	0.03353	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.74209	-0.82;-0.82	5.47	2.93	0.34026	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.877156	0.10252	N	0.696996	T	0.34745	0.0908	N	0.20530	0.585	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.18681	-1.0329	10	0.42905	T	0.14	.	2.496	0.04621	0.5803:0.2039:0.0852:0.1307	.	322	O75751	S22A3_HUMAN	H	322	ENSP00000275300:N322H;ENSP00000375989:N322H	ENSP00000275300:N322H	N	+	1	0	SLC22A3	160751857	0.003000	0.15002	0.011000	0.14972	0.073000	0.16967	1.579000	0.36536	1.034000	0.39945	-0.256000	0.11100	AAT		0.383	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		10	15	0	0	0	1	0	10	15				
RNF130	55819	broad.mit.edu	37	5	179394008	179394008	+	Silent	SNP	C	C	T	rs577094030		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:179394008C>T	ENST00000261947.4	-	7	1346	c.948G>A	c.(946-948)ccG>ccA	p.P316P	CTC-563A5.2_ENST00000510240.1_RNA|RNF130_ENST00000521389.1_Silent_p.P316P|RNF130_ENST00000522208.2_Silent_p.P316P	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCAAATTCGGCTGCAAAA	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20024	0.0		0.0	False		,,,				2504	0.0				GBM(24;432 554 38471 39699 51728)	ENST00000522208.2																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(946-948)ccG>ccA		ring finger protein 130							79.0	80.0	79.0					5																	179394008		2203	4300	6503	SO:0001819	synonymous_variant	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179394008C>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.948G>A	5.37:g.179394008C>T						RNF130_ENST00000521389.1_Silent_p.P316P|RNF130_ENST00000261947.4_Silent_p.P316P	p.P316P			Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	966	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	316						Silent	SNP	ENST00000261947.4	37	c.948G>A																																																																																					0.423	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		24	47	0	0	0	1	0	24	47				
FGR	2268	broad.mit.edu	37	1	27941062	27941062	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27941062C>A	ENST00000374005.3	-	11	1416	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	FGR_ENST00000399173.1_Missense_Mutation_p.M376I|FGR_ENST00000374004.1_Missense_Mutation_p.M376I|FGR_ENST00000545953.1_Missense_Mutation_p.M310I	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	376	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GAATGTAGTTCATGCGTTCCA	0.592																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(1126-1128)atG>atT		feline Gardner-Rasheed sarcoma viral oncogene homolog							108.0	85.0	93.0					1																	27941062		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27941062C>A	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1128G>T	1.37:g.27941062C>A	ENSP00000363117:p.Met376Ile					FGR_ENST00000545953.1_Missense_Mutation_p.M310I|FGR_ENST00000399173.1_Missense_Mutation_p.M376I|FGR_ENST00000374004.1_Missense_Mutation_p.M376I	p.M376I	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	11	1416	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	376			Protein kinase.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.1128G>T	CCDS305.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597062	0.87055	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.14	5.14	0.70334	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.77811	0.4186	N	0.14661	0.345	0.36261	D	0.854546	P	0.39326	0.668	P	0.44990	0.466	D	0.84162	0.0429	10	0.62326	D	0.03	.	17.5568	0.87892	0.0:1.0:0.0:0.0	.	376	P09769	FGR_HUMAN	I	376;310;376;376;376	ENSP00000363117:M376I;ENSP00000445302:M310I;ENSP00000382126:M376I;ENSP00000363116:M376I;ENSP00000363115:M376I	ENSP00000363115:M376I	M	-	3	0	FGR	27813649	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.818000	0.86416	2.562000	0.86427	0.462000	0.41574	ATG		0.592	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		11	17	1	0	0.00829132	1	0.00855608	11	17				
LRP1B	53353	broad.mit.edu	37	2	141641477	141641477	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141641477C>T	ENST00000389484.3	-	25	5049	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1360					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGGCCACTTCGATTTGGTCC	0.498										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4078-4080)Gaa>Aaa		low density lipoprotein receptor-related protein 1B							188.0	179.0	182.0					2																	141641477		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641477C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4078G>A	2.37:g.141641477C>T	ENSP00000374135:p.Glu1360Lys	TSP Lung(27;0.18)					p.E1360K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	25	5049	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1360					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4078G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163142	0.78226	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.89415	-2.51;-2.51	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95595	0.8568	M	0.88181	2.935	0.80722	D	1	B;D	0.89917	0.231;1.0	B;D	0.83275	0.103;0.996	D	0.95069	0.8202	10	0.51188	T	0.08	.	20.0553	0.97649	0.0:1.0:0.0:0.0	.	543;1360	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	1360;1298;505	ENSP00000374135:E1360K;ENSP00000413239:E505K	ENSP00000374135:E1360K	E	-	1	0	LRP1B	141357947	1.000000	0.71417	0.968000	0.41197	0.596000	0.36781	7.707000	0.84623	2.803000	0.96430	0.655000	0.94253	GAA		0.498	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	56	0	0	0	1	0	35	56				
TSEN2	80746	broad.mit.edu	37	3	12531417	12531417	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12531417T>G	ENST00000284995.6	+	2	505	c.118T>G	c.(118-120)Ttc>Gtc	p.F40V	TSEN2_ENST00000415684.1_Missense_Mutation_p.F40V|TSEN2_ENST00000444864.1_Missense_Mutation_p.F40V|TSEN2_ENST00000383797.5_Missense_Mutation_p.F40V|TSEN2_ENST00000402228.3_Missense_Mutation_p.F40V|TSEN2_ENST00000314571.7_Missense_Mutation_p.F40V|TSEN2_ENST00000454502.2_Missense_Mutation_p.F40V	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	40					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ATTCAAGATATTCCGTGCTGA	0.448																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(118-120)Ttc>Gtc		TSEN2 tRNA splicing endonuclease subunit							119.0	112.0	114.0					3																	12531417		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12531417T>G	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.118T>G	3.37:g.12531417T>G	ENSP00000284995:p.Phe40Val					TSEN2_ENST00000454502.2_Missense_Mutation_p.F40V|TSEN2_ENST00000415684.1_Missense_Mutation_p.F40V|TSEN2_ENST00000402228.3_Missense_Mutation_p.F40V|TSEN2_ENST00000383797.5_Missense_Mutation_p.F40V|TSEN2_ENST00000314571.7_Missense_Mutation_p.F40V|TSEN2_ENST00000284995.6_Missense_Mutation_p.F40V	p.F40V	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN			2	505	+			40					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.118T>G	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889435	0.33348	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.60040	0.28;0.25;0.31;0.29;0.32;0.32;0.22;0.25	5.7	5.7	0.88788	.	0.503154	0.21273	N	0.077282	T	0.64182	0.2575	M	0.63428	1.95	0.30766	N	0.743559	P;P;P;P	0.48764	0.915;0.839;0.915;0.745	P;B;P;B	0.50896	0.574;0.298;0.653;0.118	T	0.67635	-0.5620	10	0.37606	T	0.19	-13.1465	13.4978	0.61436	0.0:0.0:0.0:1.0	.	40;40;40;40	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	V	40	ENSP00000406238:F40V;ENSP00000323188:F40V;ENSP00000392029:F40V;ENSP00000373307:F40V;ENSP00000385976:F40V;ENSP00000284995:F40V;ENSP00000407974:F40V;ENSP00000416510:F40V	ENSP00000284995:F40V	F	+	1	0	TSEN2	12506417	0.998000	0.40836	0.187000	0.23214	0.028000	0.11728	4.801000	0.62532	2.168000	0.68352	0.533000	0.62120	TTC		0.448	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		33	48	0	0	0	1	0	33	48				
VSTM4	196740	broad.mit.edu	37	10	50315677	50315677	+	Missense_Mutation	SNP	G	G	T	rs552579024		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50315677G>T	ENST00000332853.4	-	2	442	c.419C>A	c.(418-420)aCg>aAg	p.T140K	VSTM4_ENST00000298454.3_Missense_Mutation_p.T140K	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	140	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGACCAGGCCGTCCACTTGTT	0.612																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(418-420)aCg>aAg		V-set and transmembrane domain containing 4							107.0	98.0	101.0					10																	50315677		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50315677G>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.419C>A	10.37:g.50315677G>T	ENSP00000331062:p.Thr140Lys					VSTM4_ENST00000298454.3_Missense_Mutation_p.T140K	p.T140K	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			2	442	-			140			Ig-like.		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.419C>A	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094762	0.20471	.	.	ENSG00000165633	ENST00000332853;ENST00000298454	T;T	0.15372	3.28;2.43	5.75	3.87	0.44632	.	0.202196	0.52532	D	0.000067	T	0.09642	0.0237	L	0.42245	1.32	0.44685	D	0.997678	P;B	0.37781	0.608;0.017	B;B	0.30105	0.111;0.022	T	0.11717	-1.0576	10	0.02654	T	1	-13.7096	7.7421	0.28848	0.1386:0.0:0.7272:0.1342	.	140;140	Q8IW00-2;Q8IW00	.;VSTM4_HUMAN	K	140	ENSP00000331062:T140K;ENSP00000298454:T140K	ENSP00000298454:T140K	T	-	2	0	VSTM4	49985683	1.000000	0.71417	0.858000	0.33744	0.984000	0.73092	4.103000	0.57783	0.745000	0.32763	0.655000	0.94253	ACG		0.612	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		30	42	1	0	1.50538e-07	1	1.73672e-07	30	42				
DDX26B	203522	broad.mit.edu	37	X	134714991	134714991	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134714991C>A	ENST00000370752.4	+	16	2734	c.2400C>A	c.(2398-2400)ttC>ttA	p.F800L	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	800										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAATTTTCATTTTGCTTG	0.308																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(2398-2400)ttC>ttA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							27.0	25.0	26.0					X																	134714991		2202	4299	6501	SO:0001583	missense	203522							g.chrX:134714991C>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2400C>A	X.37:g.134714991C>A	ENSP00000359788:p.Phe800Leu					DDX26B_ENST00000493637.1_3'UTR	p.F800L	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			16	2734	+	Acute lymphoblastic leukemia(192;6.56e-05)		800					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.2400C>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184962	0.38609	.	.	ENSG00000165359	ENST00000370752	T	0.35048	1.33	4.5	4.5	0.54988	.	0.097045	0.64402	D	0.000001	T	0.34250	0.0891	L	0.58354	1.805	0.39242	D	0.963888	B;B	0.19200	0.008;0.034	B;B	0.20384	0.02;0.029	T	0.20273	-1.0280	10	0.32370	T	0.25	-10.6301	11.7686	0.51945	0.0:0.905:0.0:0.095	.	800;800	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	L	800	ENSP00000359788:F800L	ENSP00000359788:F800L	F	+	3	2	DDX26B	134542657	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.300000	0.43620	2.157000	0.67596	0.594000	0.82650	TTC		0.308	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		5	13	1	0	1.23904e-05	1	1.36503e-05	5	13				
C12orf42	374470	broad.mit.edu	37	12	103700009	103700009	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:103700009T>G	ENST00000378113.2	-	5	599	c.374A>C	c.(373-375)gAa>gCa	p.E125A	C12orf42_ENST00000548048.1_Missense_Mutation_p.E58A|C12orf42_ENST00000548883.1_Missense_Mutation_p.E125A|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	125										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ACGGAATTCTTCATAGCTTTC	0.453																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(172-174)gAa>gCa		chromosome 12 open reading frame 42							81.0	82.0	81.0					12																	103700009		1854	4094	5948	SO:0001583	missense	374470							g.chr12:103700009T>G	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.374A>C	12.37:g.103700009T>G	ENSP00000367353:p.Glu125Ala					C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.E125A|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Missense_Mutation_p.E125A	p.E58A			Q96LP6	CL042_HUMAN			8	669	-			125					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.173A>C	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	T	0.071	-1.202210	0.01581	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.12	0.0417	0.14214	.	3.026040	0.01415	N	0.014166	T	0.26304	0.0642	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.19946	0.027	T	0.07443	-1.0772	10	0.18710	T	0.47	5.3648	3.065	0.06212	0.2383:0.4026:0.0:0.3591	.	125	Q96LP6	CL042_HUMAN	A	125;58;125;125	ENSP00000447908:E125A;ENSP00000449362:E58A;ENSP00000367353:E125A;ENSP00000447795:E125A	ENSP00000367353:E125A	E	-	2	0	C12orf42	102224139	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.765000	0.04730	0.004000	0.14682	-0.384000	0.06662	GAA		0.453	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		5	29	0	0	0	1	0	5	29				
BAGE2	85319	broad.mit.edu	37	21	11058350	11058350	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:11058350C>T	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGAAATCTCTTTATAAAAC	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							27.0	23.0	25.0					21																	11058350		692	1591	2283			85319							g.chr21:11058350C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058350C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	69	0	0	0	1	0	7	69				
DOPEY2	9980	broad.mit.edu	37	21	37626108	37626108	+	Silent	SNP	C	C	T	rs531724096		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:37626108C>T	ENST00000399151.3	+	23	5245	c.5160C>T	c.(5158-5160)gtC>gtT	p.V1720V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1720					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TAACCCTTGTCGACTTGGTGT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		17923	0.0		0.0	False		,,,				2504	0.001					ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(5158-5160)gtC>gtT		dopey family member 2							140.0	133.0	136.0					21																	37626108		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37626108C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5160C>T	21.37:g.37626108C>T							p.V1720V	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			23	5245	+			1720					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.5160C>T	CCDS13643.1																																																																																				0.493	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		40	78	0	0	0	1	0	40	78				
ZBTB7A	51341	broad.mit.edu	37	19	4054879	4054879	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:4054879C>T	ENST00000322357.4	-	2	630	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.A118T	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	118					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTCACGGCGGGGATCTCC	0.682																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(352-354)Gcc>Acc		zinc finger and BTB domain containing 7A							23.0	21.0	22.0					19																	4054879		2194	4295	6489	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054879C>T	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.352G>A	19.37:g.4054879C>T	ENSP00000323670:p.Ala118Thr					ZBTB7A_ENST00000601588.1_Missense_Mutation_p.A118T	p.A118T	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	630	-		Hepatocellular(1079;0.137)	118					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.352G>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803319	0.70682	.	.	ENSG00000178951	ENST00000322357	T	0.68181	-0.31	5.07	5.07	0.68467	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.074669	0.53938	D	0.000041	T	0.48696	0.1514	N	0.10707	0.03	0.34582	D	0.714555	D	0.61697	0.99	P	0.45856	0.495	T	0.60265	-0.7297	10	0.29301	T	0.29	.	12.5207	0.56058	0.1668:0.8332:0.0:0.0	.	118	O95365	ZBT7A_HUMAN	T	118	ENSP00000323670:A118T	ENSP00000323670:A118T	A	-	1	0	ZBTB7A	4005879	0.969000	0.33509	1.000000	0.80357	0.986000	0.74619	1.711000	0.37930	2.353000	0.79882	0.462000	0.41574	GCC		0.682	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		12	9	0	0	0	1	0	12	9				
ADRM1	11047	broad.mit.edu	37	20	60883729	60883729	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:60883729A>C	ENST00000253003.2	+	10	1182	c.1136A>C	c.(1135-1137)aAa>aCa	p.K379T	LAMA5_ENST00000492698.1_Intron|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	379	Interaction with UCHL5.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GCGTTTGCCAAAGCCATGCAG	0.552																																						ENST00000253003.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(1135-1137)aAa>aCa		adhesion regulating molecule 1							155.0	114.0	128.0					20																	60883729		2192	4295	6487	SO:0001583	missense	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60883729A>C	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1136A>C	20.37:g.60883729A>C	ENSP00000253003:p.Lys379Thr					LAMA5_ENST00000492698.1_Intron	p.K379T	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		10	1182	+	Breast(26;7.76e-09)		379			Interaction with UCHL5.		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	c.1136A>C	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057720	0.76074	.	.	ENSG00000130706	ENST00000253003	.	.	.	5.92	4.82	0.62117	.	0.041945	0.85682	N	0.000000	T	0.67297	0.2878	L	0.51853	1.615	0.80722	D	1	B	0.27679	0.185	B	0.44108	0.441	T	0.66452	-0.5920	9	0.52906	T	0.07	-6.8217	13.1247	0.59346	0.8663:0.1336:0.0:0.0	.	379	Q16186	ADRM1_HUMAN	T	379	.	ENSP00000253003:K379T	K	+	2	0	ADRM1	60317124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.610000	0.61155	1.049000	0.40321	0.459000	0.35465	AAA		0.552	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			14	28	0	0	0	1	0	14	28				
PLPPR1	54886	broad.mit.edu	37	9	104032271	104032271	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104032271C>A	ENST00000374874.3	+	3	612	c.173C>A	c.(172-174)cCt>cAt	p.P58H	LPPR1_ENST00000395056.2_Missense_Mutation_p.P58H	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		58					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TTAATGAAGCCTTACCCAGGG	0.483																																						ENST00000374874.3																			0											c.(172-174)cCt>cAt									127.0	115.0	119.0					9																	104032271		2203	4300	6503	SO:0001583	missense	0					integral to membrane	catalytic activity	g.chr9:104032271C>A																												ENST00000374874.3:c.173C>A	9.37:g.104032271C>A	ENSP00000364008:p.Pro58His					LPPR1_ENST00000395056.2_Missense_Mutation_p.P58H	p.P58H	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			3	612	+			58					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.173C>A	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756640	0.89843	.	.	ENSG00000148123	ENST00000374874;ENST00000456287;ENST00000374871;ENST00000395056	T;T;T	0.51817	0.69;0.69;0.69	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77302	-0.2638	10	0.87932	D	0	-36.7051	18.8647	0.92287	0.0:1.0:0.0:0.0	.	42;58	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	H	58	ENSP00000364008:P58H;ENSP00000410223:P58H;ENSP00000378496:P58H	ENSP00000364005:P58H	P	+	2	0	RP11-35N6.1	103072092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.767000	0.95098	0.557000	0.71058	CCT		0.483	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			7	38	1	0	8.12818e-05	1	8.79784e-05	7	38				
DPF3	8110	broad.mit.edu	37	14	73138003	73138003	+	Intron	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:73138003G>A	ENST00000556509.1	-	8	871				DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Silent_p.A305A|DPF3_ENST00000546183.1_Silent_p.A315A	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TACGTGCTGCGGCCGCTGCCT	0.498																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(913-915)gcC>gcT		D4, zinc and double PHD fingers, family 3							76.0	83.0	80.0					14																	73138003		2203	4298	6501	SO:0001627	intron_variant	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73138003G>A	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+2944C>T	14.37:g.73138003G>A						DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Silent_p.A315A	p.A305A	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	9	927	-			134					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Silent	SNP	ENST00000556509.1	37	c.915C>T																																																																																					0.498	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			31	43	0	0	0	1	0	31	43				
SATB1	6304	broad.mit.edu	37	3	18438680	18438680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:18438680C>A	ENST00000338745.6	-	6	2476	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	SATB1_ENST00000454909.2_Missense_Mutation_p.D248Y|SATB1_ENST00000417717.2_Missense_Mutation_p.D248Y|SATB1_ENST00000475083.1_5'Flank|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	248	Nuclear matrix targeting sequence (NMTS).				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D248Y(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCATCATATCTTTTGTCTTC	0.368																																						ENST00000338745.6																			1	Substitution - Missense(1)	p.D248Y(1)	large_intestine(1)	NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(742-744)Gat>Tat		SATB homeobox 1							254.0	212.0	226.0					3																	18438680		2202	4300	6502	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18438680C>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.742G>T	3.37:g.18438680C>A	ENSP00000341024:p.Asp248Tyr					TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.D248Y|SATB1_ENST00000417717.2_Missense_Mutation_p.D248Y	p.D248Y	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			6	2476	-			248			Nuclear matrix targeting sequence (NMTS).		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.742G>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657745	0.67586	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	D;D;D	0.86956	-2.19;-2.19;-2.19	5.9	5.9	0.94986	.	0.144833	0.64402	D	0.000010	T	0.81187	0.4770	N	0.16478	0.41	0.80722	D	1	B;B	0.16166	0.016;0.003	B;B	0.15052	0.012;0.002	T	0.74788	-0.3546	10	0.59425	D	0.04	-5.7408	20.2787	0.98501	0.0:1.0:0.0:0.0	.	248;248	Q01826-2;Q01826	.;SATB1_HUMAN	Y	248	ENSP00000341024:D248Y;ENSP00000399708:D248Y;ENSP00000399518:D248Y	ENSP00000341024:D248Y	D	-	1	0	SATB1	18413684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.798000	0.96311	0.650000	0.86243	GAT		0.368	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		17	44	1	0	9.16793e-09	1	1.08598e-08	17	44				
DNAH8	1769	broad.mit.edu	37	6	38810576	38810576	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38810576G>T	ENST00000359357.3	+	33	4345	c.4091G>T	c.(4090-4092)aGa>aTa	p.R1364I	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364I|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1364					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTGGGATAGAATCTCCGAG	0.383																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4090-4092)aGa>aTa		dynein, axonemal, heavy chain 8							131.0	120.0	124.0					6																	38810576		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38810576G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4091G>T	6.37:g.38810576G>T	ENSP00000352312:p.Arg1364Ile					DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581I|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364I	p.R1364I							33	4345	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4091G>T		.	.	.	.	.	.	.	.	.	.	G	27.1	4.802700	0.90623	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.61158	0.13;0.13;0.13	5.12	5.12	0.69794	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.91038	3.17	0.80722	D	1	D	0.63046	0.992	D	0.68943	0.961	T	0.82942	-0.0207	10	0.62326	D	0.03	.	18.9269	0.92549	0.0:0.0:1.0:0.0	.	1364	Q96JB1	DYH8_HUMAN	I	1569;1569;1364;1364	ENSP00000333363:R1569I;ENSP00000352312:R1364I;ENSP00000402294:R1364I	ENSP00000333363:R1569I	R	+	2	0	DNAH8	38918554	0.999000	0.42202	0.998000	0.56505	0.916000	0.54674	7.966000	0.87956	2.532000	0.85374	0.557000	0.71058	AGA		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		51	15	1	0	8.94452e-30	1	1.27491e-29	51	15				
CMKLR1	1240	broad.mit.edu	37	12	108685654	108685654	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108685654C>A	ENST00000312143.7	-	3	1449	c.1086G>T	c.(1084-1086)agG>agT	p.R362S	CMKLR1_ENST00000550402.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R360S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R360S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	362					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCATAGAAGTCCTCTCATTCA	0.498																																						ENST00000312143.7																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(1084-1086)agG>agT		chemokine-like receptor 1							117.0	121.0	120.0					12																	108685654		1919	4135	6054	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108685654C>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.1086G>T	12.37:g.108685654C>A	ENSP00000311733:p.Arg362Ser					CMKLR1_ENST00000552995.1_Missense_Mutation_p.R360S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R360S	p.R362S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN			3	1449	-			362					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.1086G>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	5.844	0.339905	0.11069	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.68765	-0.35;-0.35;-0.34;-0.34;-0.35	4.86	3.97	0.46021	.	0.722215	0.12881	N	0.431447	T	0.44705	0.1306	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.29366	-1.0014	10	0.34782	T	0.22	.	8.9157	0.35581	0.0:0.8957:0.0:0.1043	.	362	Q99788	CML1_HUMAN	S	362;362;360;360;362	ENSP00000311733:R362S;ENSP00000401293:R362S;ENSP00000380803:R360S;ENSP00000447579:R360S;ENSP00000449716:R362S	ENSP00000311733:R362S	R	-	3	2	CMKLR1	107209784	0.105000	0.21958	0.013000	0.15412	0.269000	0.26545	2.462000	0.45049	1.028000	0.39785	0.556000	0.70494	AGG		0.498	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			21	60	1	0	6.33239e-15	1	8.29613e-15	21	60				
PFN2	5217	broad.mit.edu	37	3	149686293	149686293	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:149686293G>T	ENST00000239940.7	-	2	429	c.177C>A	c.(175-177)ttC>ttA	p.F59L	PFN2_ENST00000461868.1_Missense_Mutation_p.F59L|PFN2_ENST00000452853.2_Missense_Mutation_p.F59L|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000489155.1_Missense_Mutation_p.F10L|PFN2_ENST00000498307.1_Missense_Mutation_p.F10L|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000423691.2_Missense_Mutation_p.F59L|PFN2_ENST00000497148.1_Missense_Mutation_p.F10L|PFN2_ENST00000481275.1_Missense_Mutation_p.F10L|PFN2_ENST00000494827.1_Missense_Mutation_p.F10L|PFN2_ENST00000481767.1_Missense_Mutation_p.F10L|PFN2_ENST00000490975.1_Missense_Mutation_p.F59L|PFN2_ENST00000475518.1_Missense_Mutation_p.F10L			P35080	PROF2_HUMAN	profilin 2	59					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGTTGGTAAAGAAACCTTCCC	0.418																																						ENST00000239940.7																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(175-177)ttC>ttA		profilin 2							156.0	169.0	165.0					3																	149686293		2203	4300	6503	SO:0001583	missense	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149686293G>T	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.177C>A	3.37:g.149686293G>T	ENSP00000239940:p.Phe59Leu					PFN2_ENST00000423691.2_Missense_Mutation_p.F59L|PFN2_ENST00000498307.1_Missense_Mutation_p.F10L|PFN2_ENST00000497148.1_Missense_Mutation_p.F10L|PFN2_ENST00000494827.1_Missense_Mutation_p.F10L|PFN2_ENST00000490975.1_Missense_Mutation_p.F59L|PFN2_ENST00000489155.1_Missense_Mutation_p.F10L|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000481767.1_Missense_Mutation_p.F10L|PFN2_ENST00000481275.1_Missense_Mutation_p.F10L|PFN2_ENST00000475518.1_Missense_Mutation_p.F10L|PFN2_ENST00000461868.1_Missense_Mutation_p.F59L|PFN2_ENST00000452853.2_Missense_Mutation_p.F59L	p.F59L			P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	429	-			59					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.177C>A	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	18.08	3.544953	0.65198	.	.	ENSG00000070087	ENST00000452853;ENST00000239940;ENST00000423691;ENST00000481767;ENST00000494827;ENST00000490975;ENST00000497148;ENST00000475518;ENST00000481275;ENST00000498307;ENST00000489155;ENST00000461868	D;D;D;D;D;D;D;D;D;D;D;D	0.84944	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.92	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	N	0.17922	0.545	0.80722	D	1	P;P;B;B	0.47484	0.703;0.896;0.067;0.04	B;P;B;B	0.45946	0.173;0.498;0.055;0.03	T	0.75419	-0.3324	10	0.05833	T	0.94	.	19.2173	0.93783	0.0:0.0:1.0:0.0	.	59;253;59;10	G5E9Q6;D3DNI2;P35080;C9J0J7	.;.;PROF2_HUMAN;.	L	59;59;59;10;10;59;10;10;10;10;10;59	ENSP00000410464:F59L;ENSP00000239940:F59L;ENSP00000408283:F59L;ENSP00000420417:F10L;ENSP00000418523:F10L;ENSP00000417351:F59L;ENSP00000417817:F10L;ENSP00000418142:F10L;ENSP00000418216:F10L;ENSP00000420202:F10L;ENSP00000420504:F10L;ENSP00000420244:F59L	ENSP00000239940:F59L	F	-	3	2	PFN2	151168983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.419000	0.73345	2.532000	0.85374	0.655000	0.94253	TTC		0.418	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		10	159	1	0	1.58986e-06	1	1.78832e-06	10	159				
KCNU1	157855	broad.mit.edu	37	8	36671793	36671793	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:36671793T>G	ENST00000399881.3	+	8	838	c.801T>G	c.(799-801)atT>atG	p.I267M		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	267					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGAGTCAATTTACCTGGTCA	0.433																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(799-801)atT>atG		potassium channel, subfamily U, member 1							71.0	68.0	69.0					8																	36671793		1869	4092	5961	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36671793T>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.801T>G	8.37:g.36671793T>G	ENSP00000382770:p.Ile267Met						p.I267M	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	8	838	+			267						Missense_Mutation	SNP	ENST00000399881.3	37	c.801T>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	4.650	0.120749	0.08881	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	D;D	0.98329	-4.87;-4.87	5.37	4.2	0.49525	Ion transport (1);	0.679876	0.11675	U	0.540380	D	0.95401	0.8507	L	0.33093	0.98	0.80722	D	1	B	0.23735	0.09	B	0.26310	0.068	D	0.91721	0.5389	10	0.52906	T	0.07	-4.1188	6.552	0.22440	0.1462:0.0:0.3034:0.5505	.	267	A8MYU2	KCNU1_HUMAN	M	267	ENSP00000429951:I267M;ENSP00000382770:I267M	ENSP00000382770:I267M	I	+	3	3	KCNU1	36790951	0.954000	0.32549	0.924000	0.36721	0.018000	0.09664	-0.062000	0.11674	0.854000	0.35336	-0.644000	0.03951	ATT		0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		12	18	0	0	0	1	0	12	18				
SLC38A9	153129	broad.mit.edu	37	5	54948368	54948368	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54948368A>C	ENST00000396865.2	-	10	1532	c.941T>G	c.(940-942)tTt>tGt	p.F314C	SLC38A9_ENST00000416547.2_Missense_Mutation_p.F190C|SLC38A9_ENST00000318672.3_Missense_Mutation_p.F314C|SLC38A9_ENST00000512595.1_Missense_Mutation_p.F287C|SLC38A9_ENST00000539768.1_Missense_Mutation_p.F314C|SLC38A9_ENST00000515629.1_Missense_Mutation_p.F251C	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	314					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TAGGATATTAAATTTTGAAAA	0.403																																						ENST00000539768.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(940-942)tTt>tGt		solute carrier family 38, member 9							40.0	41.0	41.0					5																	54948368		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54948368A>C		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.941T>G	5.37:g.54948368A>C	ENSP00000380074:p.Phe314Cys					SLC38A9_ENST00000396865.2_Missense_Mutation_p.F314C|SLC38A9_ENST00000416547.2_Missense_Mutation_p.F190C|SLC38A9_ENST00000318672.3_Missense_Mutation_p.F314C|SLC38A9_ENST00000512595.1_Missense_Mutation_p.F287C|SLC38A9_ENST00000515629.1_Missense_Mutation_p.F251C	p.F314C			Q8NBW4	S38A9_HUMAN			8	940	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	314					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.941T>G	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256565	0.80246	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595	T;T;T;T;T;T	0.39229	4.28;4.28;4.28;4.28;4.28;1.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.70197	-0.4938	10	0.46703	T	0.11	-2.7095	15.7952	0.78404	1.0:0.0:0.0:0.0	.	287;314	B3KXV1;Q8NBW4	.;S38A9_HUMAN	C	314;314;314;251;190;287	ENSP00000380074:F314C;ENSP00000316596:F314C;ENSP00000437771:F314C;ENSP00000420934:F251C;ENSP00000397429:F190C;ENSP00000427335:F287C	ENSP00000316596:F314C	F	-	2	0	SLC38A9	54984125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.005000	0.88553	2.271000	0.75665	0.533000	0.62120	TTT		0.403	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		6	16	0	0	0	1	0	6	16				
ARID1A	8289	broad.mit.edu	37	1	27100374	27100374	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27100374T>G	ENST00000324856.7	+	17	4457	c.4086T>G	c.(4084-4086)taT>taG	p.Y1362*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y979*|ARID1A_ENST00000540690.1_De_novo_Start_OutOfFrame|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y1362*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1362	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACAATGTATCAACAGCAAC	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4084-4086)taT>taG		AT rich interactive domain 1A (SWI-like)							131.0	136.0	135.0					1																	27100374		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100374T>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4086T>G	1.37:g.27100374T>G	ENSP00000320485:p.Tyr1362*					ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y1362*|ARID1A_ENST00000540690.1_De_novo_Start_OutOfFrame|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y979*	p.Y1362*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	17	4457	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1362			Gln-rich.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.4086T>G	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	41|41	9.126376|9.126376	0.99075|0.99075	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|.	.|.	.|.	5.67|5.67	3.31|3.31	0.37934|0.37934	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.25644|.	0.0624|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15521|.	-1.0434|.	4|.	.|0.02654	.|T	.|1	-1.1635|-1.1635	5.2985|5.2985	0.15766|0.15766	0.0:0.1637:0.1624:0.6739|0.0:0.1637:0.1624:0.6739	.|.	.|.	.|.	.|.	A|X	259|1362;1362;979	.|.	.|ENSP00000320485:Y1362X	S|Y	+|+	1|3	0|2	ARID1A|ARID1A	26972961|26972961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	1.334000|1.334000	0.33827|0.33827	0.967000|0.967000	0.38186|0.38186	0.533000|0.533000	0.62120|0.62120	TCA|TAT		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		76	128	0	0	0	1	0	76	128				
RPL13AP3	645683	broad.mit.edu	37	14	56233531	56233531	+	lincRNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:56233531C>A	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CTGTTAATTTCTCATGCTTGG	0.572																																						ENST00000554458.1																			0																																																			0							g.chr14:56233531C>A																													14.37:g.56233531C>A						RPL13AP3_ENST00000494676.1_RNA								0	75	+									RNA	SNP	ENST00000554458.1	37																																																																																						0.572	RP11-813I20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411474.1			4	8	1	0	0.00909568	1	0.00935351	4	8				
DNAJA4	55466	broad.mit.edu	37	15	78557106	78557106	+	Start_Codon_SNP	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78557106A>C	ENST00000394852.3	+	1	191	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	RP11-762H8.3_ENST00000558971.1_RNA|DNAJA4_ENST00000446172.2_5'Flank|RP11-762H8.3_ENST00000559954.1_RNA|DNAJA4_ENST00000489435.2_Missense_Mutation_p.M30L|DNAJA4_ENST00000343789.3_Start_Codon_SNP_p.M1L|DNAJA4_ENST00000394855.3_Missense_Mutation_p.M30L	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	1					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGACACAAGATGGTGAAGGA	0.721																																						ENST00000394855.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(88-90)Atg>Ctg		DnaJ (Hsp40) homolog, subfamily A, member 4							25.0	23.0	24.0					15																	78557106		2195	4293	6488	SO:0001582	initiator_codon_variant	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78557106A>C	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.1A>C	15.37:g.78557106A>C	ENSP00000378321:p.Met1Leu					DNAJA4_ENST00000394852.3_Start_Codon_SNP_p.M1L|DNAJA4_ENST00000343789.3_Start_Codon_SNP_p.M1L|DNAJA4_ENST00000489435.2_Missense_Mutation_p.M30L	p.M30L	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN			2	316	+			1			J.		E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	c.88A>C	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449250	0.63178	.	.	ENSG00000140403	ENST00000394855;ENST00000489435;ENST00000343789;ENST00000394852	T;T;T;T	0.72167	-0.63;-0.63;-0.02;-0.02	4.65	4.65	0.58169	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.773	D	0.86071	0.1538	9	0.87932	D	0	-2.2271	12.8814	0.58020	1.0:0.0:0.0:0.0	.	1;30	Q8WW22;Q8WW22-2	DNJA4_HUMAN;.	L	30;30;1;1	ENSP00000378324:M30L;ENSP00000438263:M30L;ENSP00000339581:M1L;ENSP00000378321:M1L	ENSP00000339581:M1L	M	+	1	0	DNAJA4	76344161	.	.	0.846000	0.33378	0.017000	0.09413	.	.	1.739000	0.51704	0.455000	0.32223	ATG		0.721	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602	Missense_Mutation	8	21	0	0	0	1	0	8	21				
POMP	51371	broad.mit.edu	37	13	29246494	29246494	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:29246494C>A	ENST00000380842.4	+	5	364	c.283C>A	c.(283-285)Ctt>Att	p.L95I	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	95					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCTTCCATTTCTTTCAAGCTC	0.353																																						ENST00000380842.4																			0				endometrium(2)|kidney(1)|large_intestine(1)	4						c.(283-285)Ctt>Att		proteasome maturation protein							162.0	158.0	159.0					13																	29246494		2203	4300	6503	SO:0001583	missense	51371				proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex		g.chr13:29246494C>A	AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.283C>A	13.37:g.29246494C>A	ENSP00000370222:p.Leu95Ile					POMP_ENST00000460403.1_3'UTR	p.L95I	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)	5	364	+		Lung SC(185;0.0367)	95					A5HKJ2|D6MXU3|Q9HB69	Missense_Mutation	SNP	ENST00000380842.4	37	c.283C>A	CCDS9331.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882393	0.51908	.	.	ENSG00000132963	ENST00000380842	.	.	.	5.14	4.3	0.51218	.	0.055832	0.64402	D	0.000002	T	0.63070	0.2480	M	0.73962	2.25	0.58432	D	0.999994	B	0.28258	0.205	B	0.31547	0.132	T	0.63985	-0.6513	9	0.42905	T	0.14	-18.1691	12.8484	0.57844	0.0:0.9202:0.0:0.0798	.	95	Q9Y244	POMP_HUMAN	I	95	.	ENSP00000370222:L95I	L	+	1	0	POMP	28144494	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	2.337000	0.43947	1.539000	0.49286	0.655000	0.94253	CTT		0.353	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932		25	49	1	0	5.45024e-15	1	7.15042e-15	25	49				
NPNT	255743	broad.mit.edu	37	4	106879674	106879674	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:106879674A>G	ENST00000379987.2	+	9	1422	c.1206A>G	c.(1204-1206)gaA>gaG	p.E402E	NPNT_ENST00000506666.1_Intron|NPNT_ENST00000514622.1_Intron|NPNT_ENST00000453617.2_Silent_p.E419E|NPNT_ENST00000305572.8_Intron|NPNT_ENST00000427316.2_Silent_p.E432E	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	402					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TTGAAATAGAAAGAGGAGTCA	0.373																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1204-1206)gaA>gaG		nephronectin							110.0	105.0	107.0					4																	106879674		2203	4300	6503	SO:0001819	synonymous_variant	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106879674A>G		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1206A>G	4.37:g.106879674A>G						NPNT_ENST00000506666.1_Intron|NPNT_ENST00000305572.8_Intron|NPNT_ENST00000453617.2_Silent_p.E419E|NPNT_ENST00000427316.2_Silent_p.E432E|NPNT_ENST00000514622.1_Intron	p.E402E	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	9	1422	+		Hepatocellular(203;0.217)	402					A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Silent	SNP	ENST00000379987.2	37	c.1206A>G	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	a	9.661	1.144088	0.21205	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.27	4.1	0.47936	.	.	.	.	.	T	0.61924	0.2386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58451	-0.7634	4	.	.	.	.	10.7674	0.46301	0.9256:0.0:0.0744:0.0	.	.	.	.	E	379	.	.	K	+	1	0	NPNT	107099123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.283000	0.43470	0.857000	0.35407	0.529000	0.55759	AAG		0.373	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		8	20	0	0	0	1	0	8	20				
SNX2	6643	broad.mit.edu	37	5	122161826	122161826	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122161826G>A	ENST00000379516.2	+	12	1402	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.A315T	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	432					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TGAAGCTGAAGCAAAAATGAT	0.338																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(1294-1296)Gca>Aca		sorting nexin 2							81.0	78.0	79.0					5																	122161826		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122161826G>A	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.1294G>A	5.37:g.122161826G>A	ENSP00000368831:p.Ala432Thr					SNX2_ENST00000514949.1_Missense_Mutation_p.A315T|SNX2_ENST00000510372.1_3'UTR	p.A432T	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	12	1402	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	432					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.1294G>A	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722500	0.89298	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.58797	0.31;0.31	5.84	5.84	0.93424	Vps5 C-terminal (1);	0.047774	0.85682	D	0.000000	T	0.62696	0.2449	M	0.69463	2.115	0.80722	D	1	B	0.19935	0.04	B	0.27608	0.081	T	0.59204	-0.7498	10	0.54805	T	0.06	-18.7695	20.1294	0.97995	0.0:0.0:1.0:0.0	.	432	O60749	SNX2_HUMAN	T	432;315	ENSP00000368831:A432T;ENSP00000421663:A315T	ENSP00000368831:A432T	A	+	1	0	SNX2	122189725	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.765000	0.85310	2.758000	0.94735	0.591000	0.81541	GCA		0.338	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		13	25	0	0	0	1	0	13	25				
B3GALNT1	8706	broad.mit.edu	37	3	160804162	160804162	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160804162T>C	ENST00000392781.2	-	8	1128	c.381A>G	c.(379-381)aaA>aaG	p.K127K	B3GALNT1_ENST00000392779.2_Silent_p.K127K|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000473285.1_Silent_p.K127K|B3GALNT1_ENST00000392780.1_Silent_p.K127K|B3GALNT1_ENST00000488170.1_Silent_p.K127K|B3GALNT1_ENST00000320474.4_Silent_p.K127K	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	127					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			ATGCCAACATTTTGTCTTCCT	0.383																																						ENST00000392781.2																			0				breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(379-381)aaA>aaG		beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)							108.0	104.0	105.0					3																	160804162		2203	4300	6503	SO:0001819	synonymous_variant	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160804162T>C	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.381A>G	3.37:g.160804162T>C						B3GALNT1_ENST00000392780.1_Silent_p.K127K|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Silent_p.K127K|B3GALNT1_ENST00000320474.4_Silent_p.K127K|B3GALNT1_ENST00000392779.2_Silent_p.K127K|B3GALNT1_ENST00000473285.1_Silent_p.K127K	p.K127K	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		8	1128	-			127					D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Silent	SNP	ENST00000392781.2	37	c.381A>G	CCDS3193.1																																																																																				0.383	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		23	44	0	0	0	1	0	23	44				
TEX15	56154	broad.mit.edu	37	8	30701117	30701117	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30701117A>C	ENST00000256246.2	-	1	5491	c.5417T>G	c.(5416-5418)tTt>tGt	p.F1806C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1806					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAAAGAGAAAAATCAAAGCA	0.323																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(5416-5418)tTt>tGt		testis expressed 15							80.0	77.0	78.0					8																	30701117		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701117A>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5417T>G	8.37:g.30701117A>C	ENSP00000256246:p.Phe1806Cys						p.F1806C	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5491	-			1806						Missense_Mutation	SNP	ENST00000256246.2	37	c.5417T>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.985878	0.53934	.	.	ENSG00000133863	ENST00000256246	T	0.27256	1.68	5.54	5.54	0.83059	.	0.000000	0.52532	D	0.000074	T	0.47911	0.1471	L	0.59436	1.845	0.48830	D	0.99971	D	0.89917	1.0	D	0.97110	1.0	T	0.48186	-0.9057	10	0.87932	D	0	.	14.6584	0.68850	1.0:0.0:0.0:0.0	.	1806	Q9BXT5	TEX15_HUMAN	C	1806	ENSP00000256246:F1806C	ENSP00000256246:F1806C	F	-	2	0	TEX15	30820659	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	6.281000	0.72632	2.100000	0.63781	0.528000	0.53228	TTT		0.323	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			19	33	0	0	0	1	0	19	33				
OR2W3	343171	broad.mit.edu	37	1	248059536	248059536	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248059536C>T	ENST00000360358.3	+	1	648	c.648C>T	c.(646-648)ctC>ctT	p.L216L	OR2W3_ENST00000537741.1_Silent_p.L216L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTATCCTGCTCTCTTACAGCT	0.582																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(646-648)ctC>ctT		olfactory receptor, family 2, subfamily W, member 3							203.0	183.0	190.0					1																	248059536		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059536C>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.648C>T	1.37:g.248059536C>T						OR2W3_ENST00000360358.3_Silent_p.L216L	p.L216L			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	905	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		216					Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.648C>T	CCDS31099.1																																																																																				0.582	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		6	168	0	0	0	1	0	6	168				
DSC1	1823	broad.mit.edu	37	18	28712594	28712594	+	Silent	SNP	T	T	C	rs200635848		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28712594T>C	ENST00000257198.5	-	14	2436	c.2175A>G	c.(2173-2175)ccA>ccG	p.P725P	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.P725P	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	725					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTATGTCTTCTGGAAAACATT	0.343													T|||	1	0.000199681	0.0	0.0	5008	,	,		17585	0.0		0.001	False		,,,				2504	0.0					ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2173-2175)ccA>ccG		desmocollin 1							135.0	129.0	131.0					18																	28712594		2202	4299	6501	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28712594T>C	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2175A>G	18.37:g.28712594T>C						DSC1_ENST00000257198.5_Silent_p.P725P|RP11-408H20.2_ENST00000581836.1_RNA	p.P725P	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		14	2436	-			725					Q9HB01	Silent	SNP	ENST00000257198.5	37	c.2175A>G	CCDS11894.1																																																																																				0.343	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		15	37	0	0	0	1	0	15	37				
EFCAB13	124989	broad.mit.edu	37	17	45455157	45455157	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45455157A>C	ENST00000331493.2	+	13	1809	c.1398A>C	c.(1396-1398)aaA>aaC	p.K466N	EFCAB13_ENST00000517484.1_Missense_Mutation_p.K370N	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	466						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTATCAGTAAACTTCAAGAAA	0.303																																						ENST00000331493.2																			0											c.(1396-1398)aaA>aaC		EF-hand calcium binding domain 13							52.0	56.0	54.0					17																	45455157		2203	4298	6501	SO:0001583	missense	124989							g.chr17:45455157A>C	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1398A>C	17.37:g.45455157A>C	ENSP00000332111:p.Lys466Asn					EFCAB13_ENST00000517484.1_Missense_Mutation_p.K370N	p.K466N	NM_152347.4	NP_689560.3					13	1809	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1398A>C	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357802	0.41801	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.69175	-0.01;-0.38	3.8	1.47	0.22746	EF-hand-like domain (1);	0.935928	0.08848	N	0.884872	T	0.74405	0.3712	M	0.61703	1.905	0.09310	N	1	D;D;D	0.76494	0.999;0.991;0.982	D;P;P	0.66847	0.947;0.883;0.745	T	0.57997	-0.7714	10	0.66056	D	0.02	-10.527	3.7221	0.08460	0.6537:0.2247:0.1216:0.0	.	418;466;370	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	N	466;370;418	ENSP00000332111:K466N;ENSP00000430048:K370N	ENSP00000332111:K466N	K	+	3	2	C17orf57	42810156	0.266000	0.24112	0.005000	0.12908	0.009000	0.06853	0.022000	0.13511	0.150000	0.19136	0.377000	0.23210	AAA		0.303	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		16	30	0	0	0	1	0	16	30				
SGCG	6445	broad.mit.edu	37	13	23853608	23853608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23853608C>T	ENST00000218867.3	+	5	620	c.496C>T	c.(496-498)Cga>Tga	p.R166*	SGCG_ENST00000545013.1_Nonsense_Mutation_p.R166*|SGCG_ENST00000537476.1_Nonsense_Mutation_p.R166*	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	166					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATAAACTTCGAGTAACTGG	0.388																																						ENST00000218867.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(496-498)Cga>Tga		sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)							103.0	89.0	94.0					13																	23853608		2203	4300	6503	SO:0001587	stop_gained	6445				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr13:23853608C>T	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.496C>T	13.37:g.23853608C>T	ENSP00000218867:p.Arg166*					SGCG_ENST00000545013.1_Nonsense_Mutation_p.R166*|SGCG_ENST00000537476.1_Nonsense_Mutation_p.R166*	p.R166*	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)	5	620	+		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)	166					Q32M32|Q5T9J6	Nonsense_Mutation	SNP	ENST00000218867.3	37	c.496C>T	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432701	0.62844	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	.	.	.	5.37	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2366	8.276	0.31873	0.2781:0.6508:0.0:0.071	.	.	.	.	X	166	.	ENSP00000218867:R166X	R	+	1	2	SGCG	22751608	1.000000	0.71417	0.997000	0.53966	0.022000	0.10575	2.540000	0.45727	0.664000	0.31047	-0.911000	0.02809	CGA		0.388	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		12	17	0	0	0	1	0	12	17				
HCCS	3052	broad.mit.edu	37	X	11139034	11139034	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11139034C>T	ENST00000321143.4	+	6	731	c.529C>T	c.(529-531)Cct>Tct	p.P177S	HCCS_ENST00000380763.3_Missense_Mutation_p.P177S|HCCS_ENST00000380762.4_Missense_Mutation_p.P177S|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	177					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						TAGAGAGTGTCCTTGTGGTCC	0.383																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(529-531)Cct>Tct		holocytochrome c synthase							217.0	205.0	209.0					X																	11139034		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139034C>T		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.529C>T	X.37:g.11139034C>T	ENSP00000326579:p.Pro177Ser					HCCS_ENST00000380763.3_Missense_Mutation_p.P177S|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.P177S	p.P177S	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			6	731	+			177					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.529C>T	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118593	0.56505	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.81739	-1.53;-1.53;-1.53	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.67517	2.055	0.80722	D	1	B	0.32968	0.392	B	0.30401	0.115	T	0.73707	-0.3898	10	0.09338	T	0.73	-20.1007	16.2611	0.82547	0.0:1.0:0.0:0.0	.	177	P53701	CCHL_HUMAN	S	177	ENSP00000326579:P177S;ENSP00000370140:P177S;ENSP00000370139:P177S	ENSP00000326579:P177S	P	+	1	0	HCCS	11048955	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.213000	0.77950	2.444000	0.82710	0.600000	0.82982	CCT		0.383	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			33	147	0	0	0	1	0	33	147				
MTMR1	8776	broad.mit.edu	37	X	149899985	149899985	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149899985A>G	ENST00000370390.3	+	8	918	c.761A>G	c.(760-762)aAt>aGt	p.N254S	MTMR1_ENST00000542156.1_Missense_Mutation_p.N254S|MTMR1_ENST00000445323.2_Missense_Mutation_p.N262S|MTMR1_ENST00000544228.1_Missense_Mutation_p.N254S|MTMR1_ENST00000451863.2_Missense_Mutation_p.N254S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N160S|MTMR1_ENST00000538506.1_Missense_Mutation_p.N141S	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	254	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAACAGTAATTATGAGTTC	0.398																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(784-786)aAt>aGt		myotubularin related protein 1							133.0	126.0	128.0					X																	149899985		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149899985A>G	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.761A>G	X.37:g.149899985A>G	ENSP00000359417:p.Asn254Ser					MTMR1_ENST00000370390.3_Missense_Mutation_p.N254S|MTMR1_ENST00000451863.2_Missense_Mutation_p.N254S|MTMR1_ENST00000538506.1_Missense_Mutation_p.N141S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N160S|MTMR1_ENST00000542156.1_Missense_Mutation_p.N254S|MTMR1_ENST00000544228.1_Missense_Mutation_p.N254S	p.N262S			Q13613	MTMR1_HUMAN			9	906	+	Acute lymphoblastic leukemia(192;6.56e-05)		254			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.785A>G	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	8.903	0.956747	0.18507	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.63	0.426	0.16479	Myotubularin phosphatase domain (1);	0.483083	0.26045	N	0.026671	T	0.81654	0.4868	L	0.43646	1.37	0.09310	N	1	B;B;B	0.11235	0.0;0.002;0.004	B;B;B	0.13407	0.002;0.009;0.005	T	0.64381	-0.6421	9	.	.	.	.	2.1099	0.03700	0.3435:0.2631:0.2886:0.1048	.	254;262;254	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	S	160;254;254;262;254;254;141	ENSP00000441879:N160S;ENSP00000445281:N254S;ENSP00000359417:N254S;ENSP00000414178:N262S;ENSP00000440534:N254S;ENSP00000387446:N254S;ENSP00000443444:N141S	.	N	+	2	0	MTMR1	149650643	0.001000	0.12720	0.760000	0.31359	0.937000	0.57800	0.136000	0.15974	0.026000	0.15269	0.441000	0.28932	AAT		0.398	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		31	66	0	0	0	1	0	31	66				
PPARA	5465	broad.mit.edu	37	22	46627934	46627934	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:46627934C>T	ENST00000396000.2	+	7	1222	c.957C>T	c.(955-957)gcC>gcT	p.A319A	PPARA_ENST00000402126.1_Silent_p.A319A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Silent_p.A319A|PPARA_ENST00000262735.5_Silent_p.A319A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	319	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CCATATTCGCCATGCTGTCTT	0.463																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(955-957)gcC>gcT		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						151.0	136.0	141.0					22																	46627934		2203	4300	6503	SO:0001819	synonymous_variant	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46627934C>T	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.957C>T	22.37:g.46627934C>T						PPARA_ENST00000407236.1_Silent_p.A319A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000402126.1_Silent_p.A319A|PPARA_ENST00000262735.5_Silent_p.A319A	p.A319A			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	7	1222	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	319			Ligand-binding.|Required for heterodimerization with RXRA.		B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Silent	SNP	ENST00000396000.2	37	c.957C>T	CCDS33669.1																																																																																				0.463	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		33	36	0	0	0	1	0	33	36				
PLEKHG3	26030	broad.mit.edu	37	14	65197549	65197549	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:65197549A>G	ENST00000394691.1	+	6	746	c.599A>G	c.(598-600)gAc>gGc	p.D200G	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.D144G			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	200	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGCATGCGGGACAAGCAGCAG	0.647																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(430-432)gAc>gGc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							38.0	40.0	39.0					14																	65197549		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197549A>G	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.599A>G	14.37:g.65197549A>G	ENSP00000378183:p.Asp200Gly					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.D200G	p.D144G	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	4	739	+			200			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.431A>G		.	.	.	.	.	.	.	.	.	.	A	19.77	3.889755	0.72524	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	T;T	0.69175	-0.38;-0.38	4.88	4.88	0.63580	Dbl homology (DH) domain (5);	0.328463	0.31542	N	0.007471	T	0.62998	0.2474	L	0.28556	0.865	0.80722	D	1	P;P	0.41947	0.766;0.723	P;P	0.47915	0.561;0.503	T	0.64769	-0.6329	10	0.45353	T	0.12	.	13.7668	0.62999	1.0:0.0:0.0:0.0	.	200;144	A1L390;A1L390-3	PKHG3_HUMAN;.	G	144;200	ENSP00000247226:D144G;ENSP00000378183:D200G	ENSP00000247226:D144G	D	+	2	0	PLEKHG3	64267302	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.442000	0.44873	1.953000	0.56701	0.459000	0.35465	GAC		0.647	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		9	30	0	0	0	1	0	9	30				
GPR149	344758	broad.mit.edu	37	3	154146951	154146951	+	Missense_Mutation	SNP	C	C	T	rs375798320		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154146951C>T	ENST00000389740.2	-	1	553	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	152					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCACCACGCCGAGCACCTGG	0.637																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(454-456)Ggc>Agc		G protein-coupled receptor 149		C	SER/GLY	0,4038		0,0,2019	24.0	28.0	27.0		454	3.6	0.0	3		27	1,8355		0,1,4177	no	missense	GPR149	NM_001038705.1	56	0,1,6196	TT,TC,CC		0.012,0.0,0.0081	benign	152/732	154146951	1,12393	2019	4178	6197	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146951C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.454G>A	3.37:g.154146951C>T	ENSP00000374390:p.Gly152Ser						p.G152S	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	553	-			152						Missense_Mutation	SNP	ENST00000389740.2	37	c.454G>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	1.519	-0.547482	0.04024	0.0	1.2E-4	ENSG00000174948	ENST00000389740	T	0.71817	-0.6	5.41	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.334930	0.34223	N	0.004152	T	0.58722	0.2142	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.48811	-0.9002	10	0.34782	T	0.22	-4.2503	4.4421	0.11579	0.2646:0.5428:0.1137:0.0789	.	152	Q86SP6	GP149_HUMAN	S	152	ENSP00000374390:G152S	ENSP00000374390:G152S	G	-	1	0	GPR149	155629645	0.017000	0.18338	0.010000	0.14722	0.013000	0.08279	1.218000	0.32467	0.650000	0.30769	-0.137000	0.14449	GGC		0.637	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		25	48	0	0	0	1	0	25	48				
EPB42	2038	broad.mit.edu	37	15	43503726	43503726	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43503726G>T	ENST00000441366.2	-	4	662	c.437C>A	c.(436-438)gCt>gAt	p.A146D	EPB42_ENST00000300215.3_Missense_Mutation_p.A176D|EPB42_ENST00000540029.1_Missense_Mutation_p.A68D	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	146					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CAGGAACACAGCATCCTCTGG	0.572																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(526-528)gCt>gAt		erythrocyte membrane protein band 4.2							136.0	108.0	118.0					15																	43503726		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43503726G>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.437C>A	15.37:g.43503726G>T	ENSP00000396616:p.Ala146Asp					EPB42_ENST00000441366.2_Missense_Mutation_p.A146D|EPB42_ENST00000540029.1_Missense_Mutation_p.A68D	p.A176D			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	4	984	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	146					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.527C>A	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317446	0.23908	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.88741	-2.42;-1.56;-2.42	5.84	2.85	0.33270	Immunoglobulin-like fold (1);	0.607140	0.17845	N	0.160045	D	0.85035	0.5605	L	0.39245	1.2	0.28383	N	0.919467	B;D;D	0.59357	0.012;0.985;0.974	B;P;P	0.48982	0.022;0.597;0.548	T	0.76512	-0.2932	10	0.30854	T	0.27	-0.2539	7.556	0.27824	0.0781:0.0:0.6241:0.2978	.	68;176;146	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	D	176;68;146;146	ENSP00000300215:A176D;ENSP00000444699:A68D;ENSP00000396616:A146D	ENSP00000300215:A176D	A	-	2	0	EPB42	41291018	0.000000	0.05858	0.991000	0.47740	0.600000	0.36913	0.554000	0.23407	0.755000	0.32990	0.655000	0.94253	GCT		0.572	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		13	64	1	0	2.31682e-05	1	2.54096e-05	13	64				
PGM2	55276	broad.mit.edu	37	4	37851855	37851855	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:37851855A>G	ENST00000381967.4	+	12	1563	c.1463A>G	c.(1462-1464)gAa>gGa	p.E488G	PGM2_ENST00000537241.1_Missense_Mutation_p.E328G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	488			E -> D (in dbSNP:rs10001580).		carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CATGATCAAGAAACCATTAAG	0.313																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1462-1464)gAa>gGa		phosphoglucomutase 2							50.0	54.0	53.0					4																	37851855		2203	4299	6502	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37851855A>G	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1463A>G	4.37:g.37851855A>G	ENSP00000371393:p.Glu488Gly					PGM2_ENST00000537241.1_Missense_Mutation_p.E328G	p.E488G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			12	1563	+			488		E -> D (in dbSNP:rs10001580).			B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1463A>G	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	6.410	0.443791	0.12164	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.33654	1.4;1.4	5.53	-4.99	0.03010	.	0.730444	0.14278	N	0.329683	T	0.24044	0.0582	L	0.39898	1.24	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15350	-1.0440	10	0.31617	T	0.26	-7.1835	11.3245	0.49440	0.7641:0.1127:0.1233:0.0	.	488	Q96G03	PGM2_HUMAN	G	488;328	ENSP00000371393:E488G;ENSP00000437342:E328G	ENSP00000371393:E488G	E	+	2	0	PGM2	37528250	0.059000	0.20769	0.010000	0.14722	0.578000	0.36192	0.413000	0.21148	-0.901000	0.03891	-0.321000	0.08615	GAA		0.313	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		5	15	0	0	0	1	0	5	15				
VN1R4	317703	broad.mit.edu	37	19	53770013	53770013	+	Nonstop_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770013T>C	ENST00000311170.4	-	1	959	c.906A>G	c.(904-906)tgA>tgG	p.*302W	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	0					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGAGATCTTGTCATCTTTTCC	0.388										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(904-906)tgA>tgG		vomeronasal 1 receptor 4							60.0	59.0	60.0					19																	53770013		2203	4300	6503	SO:0001578	stop_lost	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770013T>C	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.906A>G	19.37:g.53770013T>C	ENSP00000310856:p.*302Cysext*8	HNSCC(26;0.072)					p.*302W	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	959	-			0					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Nonstop_Mutation	SNP	ENST00000311170.4	37	c.906A>G	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	T	0.384	-0.927041	0.02377	.	.	ENSG00000228567	ENST00000311170	.	.	.	2.99	-2.86	0.05717	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7605	0.01006	0.3132:0.1112:0.1589:0.4167	.	.	.	.	W	302	.	.	X	-	3	0	VN1R4	58461825	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.859000	0.00348	-0.372000	0.07992	0.450000	0.29827	TGA		0.388	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		21	37	0	0	0	1	0	21	37				
SCN4A	6329	broad.mit.edu	37	17	62034759	62034759	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62034759G>A	ENST00000435607.1	-	13	2215	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	SCN4A_ENST00000578147.1_Silent_p.I713I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	713					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACGGCGAAGATGAACACGA	0.557																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(2137-2139)atC>atT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						110.0	119.0	116.0					17																	62034759		2202	4300	6502	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62034759G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2139C>T	17.37:g.62034759G>A						SCN4A_ENST00000435607.1_Silent_p.I713I	p.I713I			P35499	SCN4A_HUMAN			13	2215	-			713					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.2139C>T	CCDS45761.1																																																																																				0.557	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		24	53	0	0	0	1	0	24	53				
CEBPZ	10153	broad.mit.edu	37	2	37455758	37455758	+	Missense_Mutation	SNP	G	G	T	rs201042392		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37455758G>T	ENST00000234170.5	-	2	723	c.578C>A	c.(577-579)tCt>tAt	p.S193Y		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	193					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)	p.S193Y(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GGGTTTCAAAGAATATTCATT	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19719	0.0		0.0	False		,,,				2504	0.0					ENST00000234170.5																			1	Substitution - Missense(1)	p.S193Y(1)	large_intestine(1)	breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(577-579)tCt>tAt		CCAAT/enhancer binding protein (C/EBP), zeta		G	TYR/SER	1,4405	2.1+/-5.4	0,1,2202	122.0	125.0	124.0		578	2.8	0.1	2		124	3,8597	3.7+/-12.6	0,3,4297	yes	missense	CEBPZ	NM_005760.2	144	0,4,6499	TT,TG,GG		0.0349,0.0227,0.0308	possibly-damaging	193/1055	37455758	4,13002	2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455758G>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.578C>A	2.37:g.37455758G>T	ENSP00000234170:p.Ser193Tyr						p.S193Y	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	723	-		all_hematologic(82;0.21)	193					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.578C>A	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778505	0.49786	2.27E-4	3.49E-4	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	T;T	0.02656	4.21;4.21	5.66	2.8	0.32819	.	0.147080	0.53938	D	0.000053	T	0.08758	0.0217	M	0.68952	2.095	0.09310	N	1	D	0.55385	0.971	P	0.50617	0.646	T	0.04650	-1.0936	10	0.87932	D	0	.	16.7598	0.85509	0.0:0.3639:0.636:0.0	.	193	Q03701	CEBPZ_HUMAN	Y	193;193;144	ENSP00000234170:S193Y;ENSP00000391881:S144Y	ENSP00000234170:S193Y	S	-	2	0	CEBPZ	37309262	0.959000	0.32827	0.138000	0.22173	0.945000	0.59286	3.430000	0.52807	0.290000	0.22444	0.655000	0.94253	TCT		0.368	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		28	60	1	0	1.88708e-17	1	2.5355e-17	28	60				
PCSK9	255738	broad.mit.edu	37	1	55523792	55523792	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55523792G>T	ENST00000302118.5	+	8	1554	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.D222Y	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	422	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CTCTGCCAAAGATGTCATCAA	0.622																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1264-1266)Gat>Tat		proprotein convertase subtilisin/kexin type 9							71.0	66.0	68.0					1																	55523792		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523792G>T	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1264G>T	1.37:g.55523792G>T	ENSP00000303208:p.Asp422Tyr					PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.D222Y	p.D422Y	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			8	1554	+			422			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.1264G>T	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813259	0.50527	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.88124	-2.34;-2.34	4.72	2.43	0.29744	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.468738	0.20279	N	0.095481	D	0.87593	0.6216	L	0.55743	1.74	0.09310	N	1	D	0.60160	0.987	P	0.57244	0.816	T	0.78204	-0.2295	10	0.72032	D	0.01	-7.6867	5.922	0.19088	0.4406:0.0:0.5594:0.0	.	422	Q8NBP7	PCSK9_HUMAN	Y	422;222	ENSP00000303208:D422Y;ENSP00000441859:D222Y	ENSP00000303208:D422Y	D	+	1	0	PCSK9	55296380	0.988000	0.35896	0.008000	0.14137	0.971000	0.66376	1.575000	0.36493	0.948000	0.37687	0.563000	0.77884	GAT		0.622	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		22	59	1	0	1.96895e-08	1	2.32153e-08	22	59				
ARHGEF18	23370	broad.mit.edu	37	19	7523545	7523545	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7523545T>C	ENST00000359920.6	+	9	2018	c.1765T>C	c.(1765-1767)Tgg>Cgg	p.W589R	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.W431R|CTD-2207O23.3_ENST00000593531.1_Silent_p.P546P	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	589	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CAGGAACGCCTGGATGGCCCA	0.582																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1765-1767)Tgg>Cgg		Rho/Rac guanine nucleotide exchange factor (GEF) 18							70.0	65.0	67.0					19																	7523545		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7523545T>C	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1765T>C	19.37:g.7523545T>C	ENSP00000352995:p.Trp589Arg					CTD-2207O23.3_ENST00000593531.1_Silent_p.P546P|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.W431R	p.W589R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			9	2018	+		Renal(5;0.0902)	589			PH.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1765T>C	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703279	0.68501	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	D;D	0.96011	-3.88;-3.88	4.99	4.99	0.66335	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.52532	D	0.000068	D	0.97964	0.9330	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98816	1.0745	10	0.87932	D	0	-20.1961	12.6682	0.56853	0.0:0.0:0.0:1.0	.	431;589	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	R	431;589	ENSP00000319200:W431R;ENSP00000352995:W589R	ENSP00000319200:W431R	W	+	1	0	ARHGEF18	7429545	1.000000	0.71417	0.896000	0.35187	0.702000	0.40608	7.691000	0.84191	1.885000	0.54596	0.482000	0.46254	TGG		0.582	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		10	48	0	0	0	1	0	10	48				
ATR	545	broad.mit.edu	37	3	142278191	142278191	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142278191T>G	ENST00000350721.4	-	7	1755	c.1634A>C	c.(1633-1635)aAg>aCg	p.K545T	ATR_ENST00000383101.3_Missense_Mutation_p.K481T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	545					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTACAGCTCTTAAGCACTTT	0.373								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1633-1635)aAg>aCg	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							105.0	102.0	103.0					3																	142278191		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142278191T>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1634A>C	3.37:g.142278191T>G	ENSP00000343741:p.Lys545Thr					ATR_ENST00000383101.3_Missense_Mutation_p.K481T	p.K545T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			7	1755	-			545					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1634A>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.707816	0.48412	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.04862	3.54;3.77	6.07	3.59	0.41128	Armadillo-type fold (1);	0.169217	0.50627	N	0.000116	T	0.05410	0.0143	L	0.29908	0.895	0.30823	N	0.737516	B	0.17852	0.024	B	0.15052	0.012	T	0.09100	-1.0690	10	0.87932	D	0	-3.4053	7.6949	0.28590	0.0:0.0682:0.2633:0.6685	.	545	Q13535	ATR_HUMAN	T	545;481;162	ENSP00000343741:K545T;ENSP00000372581:K481T	ENSP00000343741:K545T	K	-	2	0	ATR	143760881	0.907000	0.30839	0.967000	0.41034	0.984000	0.73092	1.046000	0.30354	0.475000	0.27415	0.533000	0.62120	AAG		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		13	28	0	0	0	1	0	13	28				
MYPN	84665	broad.mit.edu	37	10	69966634	69966634	+	Missense_Mutation	SNP	C	C	T	rs542627169		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69966634C>T	ENST00000358913.5	+	19	4255	c.3767C>T	c.(3766-3768)tCg>tTg	p.S1256L	MYPN_ENST00000540630.1_Missense_Mutation_p.S1256L|MYPN_ENST00000354393.2_Missense_Mutation_p.S981L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1256	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGCATCGTGTCGTGCACTGCC	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21271	0.0		0.0	False		,,,				2504	0.0					ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(3766-3768)tCg>tTg		myopalladin							98.0	94.0	95.0					10																	69966634		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69966634C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3767C>T	10.37:g.69966634C>T	ENSP00000351790:p.Ser1256Leu					MYPN_ENST00000354393.2_Missense_Mutation_p.S981L|MYPN_ENST00000540630.1_Missense_Mutation_p.S1256L	p.S1256L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			19	4255	+			1256			Ig-like 5.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.3767C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	36	5.605557	0.96626	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.68765	-0.35;-0.35;-0.35	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.82513	0.5053	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.99;0.996;0.999	T	0.81380	-0.0959	9	.	.	.	.	19.919	0.97077	0.0:1.0:0.0:0.0	.	1256;981;1256	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	L	981;981;1256;1256	ENSP00000346369:S981L;ENSP00000351790:S1256L;ENSP00000441668:S1256L	.	S	+	2	0	MYPN	69636640	1.000000	0.71417	0.965000	0.40720	0.960000	0.62799	7.818000	0.86416	2.712000	0.92718	0.561000	0.74099	TCG		0.448	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		12	66	0	0	0	1	0	12	66				
KLHL14	57565	broad.mit.edu	37	18	30350502	30350502	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:30350502T>C	ENST00000359358.4	-	2	491	c.53A>G	c.(52-54)aAc>aGc	p.N18S	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.N18S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	18						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGCAGCAGGTTGTCGCTGTG	0.632																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(52-54)aAc>aGc		kelch-like family member 14							83.0	59.0	67.0					18																	30350502		2202	4299	6501	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350502T>C	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.53A>G	18.37:g.30350502T>C	ENSP00000352314:p.Asn18Ser					AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.N18S	p.N18S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	491	-			18					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.53A>G	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	T	7.714	0.695776	0.15106	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.21543	2.0;2.0	4.29	3.08	0.35506	BTB/POZ fold (2);	0.338269	0.33401	N	0.004960	T	0.13329	0.0323	L	0.33293	1	0.28769	N	0.900458	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	10	0.10111	T	0.7	.	9.7894	0.40697	0.0:0.0:0.1737:0.8263	.	18	Q9P2G3	KLH14_HUMAN	S	18	ENSP00000352314:N18S;ENSP00000350808:N18S	ENSP00000350808:N18S	N	-	2	0	KLHL14	28604500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	0.649000	0.30751	0.377000	0.23210	AAC		0.632	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			38	59	0	0	0	1	0	38	59				
TMEM55A	55529	broad.mit.edu	37	8	92008023	92008023	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92008023C>T	ENST00000285419.3	-	7	970	c.656G>A	c.(655-657)cGa>cAa	p.R219Q		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	219						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TGCTCGAAATCGCCTTGCAAA	0.373																																						ENST00000285419.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(655-657)cGa>cAa		transmembrane protein 55A							80.0	77.0	78.0					8																	92008023		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92008023C>T	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.656G>A	8.37:g.92008023C>T	ENSP00000285419:p.Arg219Gln						p.R219Q	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		7	970	-			219					B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.656G>A	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658829	0.29515	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.36	4.48	0.54585	.	0.055640	0.64402	D	0.000001	T	0.19366	0.0465	N	0.04508	-0.205	0.53688	D	0.99997	P	0.39601	0.68	B	0.30855	0.121	T	0.08597	-1.0714	9	0.12430	T	0.62	-9.9012	10.5462	0.45062	0.0:0.7938:0.1336:0.0726	.	219	Q8N4L2	TM55A_HUMAN	Q	219;225	.	ENSP00000285419:R219Q	R	-	2	0	TMEM55A	92077199	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.758000	0.55220	1.391000	0.46566	0.650000	0.86243	CGA		0.373	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		8	47	0	0	0	1	0	8	47				
SSX5	6758	broad.mit.edu	37	X	48054555	48054555	+	Intron	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48054555C>T	ENST00000376923.1	-	1	69				SSX5_ENST00000347757.1_Intron|SSX5_ENST00000311798.1_Missense_Mutation_p.R27K			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						ACAGACTTGTCTCCAGGGATG	0.557																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(79-81)aGa>aAa		synovial sarcoma, X breakpoint 5							83.0	74.0	77.0					X																	48054555		2203	4299	6502	SO:0001627	intron_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054555C>T	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.69+170G>A	X.37:g.48054555C>T						SSX5_ENST00000347757.1_Intron|SSX5_ENST00000376923.1_Intron	p.R27K	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			3	132	-			23			KRAB-related.		Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.80G>A	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	12.71	2.019701	0.35606	.	.	ENSG00000165583	ENST00000311798	T	0.09350	2.99	1.51	-0.776	0.10984	.	.	.	.	.	T	0.04318	0.0119	.	.	.	0.09310	N	1	B	0.31290	0.318	B	0.29353	0.101	T	0.42531	-0.9446	8	0.13470	T	0.59	.	2.512	0.04659	0.0:0.4429:0.3179:0.2391	.	27	O60225-2	.	K	27	ENSP00000312415:R27K	ENSP00000312415:R27K	R	-	2	0	SSX5	47939499	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-1.407000	0.02488	-0.316000	0.08690	0.171000	0.16805	AGA		0.557	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		15	74	0	0	0	1	0	15	74				
STK17B	9262	broad.mit.edu	37	2	197002227	197002227	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197002227G>A	ENST00000263955.4	-	8	1349	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	STK17B_ENST00000409228.1_Missense_Mutation_p.R355C	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	355					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TCATCGAAACGAAATCTTTTG	0.373																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.(1063-1065)Cgt>Tgt		serine/threonine kinase 17b							132.0	139.0	137.0					2																	197002227		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197002227G>A	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.1063C>T	2.37:g.197002227G>A	ENSP00000263955:p.Arg355Cys					STK17B_ENST00000409228.1_Missense_Mutation_p.R355C	p.R355C	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		8	1349	-			355						Missense_Mutation	SNP	ENST00000263955.4	37	c.1063C>T	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034424	0.75617	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.69685	-0.42;-0.42	4.99	4.99	0.66335	.	0.000000	0.49305	D	0.000154	T	0.71837	0.3387	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.75690	-0.3230	10	0.87932	D	0	.	16.6384	0.85065	0.0:0.0:1.0:0.0	.	355	O94768	ST17B_HUMAN	C	355	ENSP00000263955:R355C;ENSP00000386853:R355C	ENSP00000263955:R355C	R	-	1	0	STK17B	196710472	1.000000	0.71417	0.996000	0.52242	0.763000	0.43281	4.546000	0.60705	2.605000	0.88082	0.655000	0.94253	CGT		0.373	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			17	44	0	0	0	1	0	17	44				
KHSRP	8570	broad.mit.edu	37	19	6416504	6416504	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6416504G>A	ENST00000398148.3	-	14	1577	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	495	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.I495I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AACCCACCTCGATCTTTTCCT	0.587																																					Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			1	Substitution - coding silent(1)	p.I495I(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.(1483-1485)atC>atT		KH-type splicing regulatory protein							27.0	29.0	28.0					19																	6416504		1880	4092	5972	SO:0001819	synonymous_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6416504G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1485C>T	19.37:g.6416504G>A						MIR3940_ENST00000579148.1_RNA	p.I495I	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN			14	1577	-			495			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.1485C>T	CCDS45936.1																																																																																				0.587	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			8	17	0	0	0	1	0	8	17				
OR10T2	128360	broad.mit.edu	37	1	158368397	158368397	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158368397G>T	ENST00000334438.1	-	1	859	c.860C>A	c.(859-861)cCt>cAt	p.P287H		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P287H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GTAGACAAGAGGATTAAGTAA	0.433																																						ENST00000334438.1																			1	Substitution - Missense(1)	p.P287H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(859-861)cCt>cAt		olfactory receptor, family 10, subfamily T, member 2							60.0	53.0	55.0					1																	158368397		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368397G>T	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.860C>A	1.37:g.158368397G>T	ENSP00000334115:p.Pro287His						p.P287H	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	859	-	all_hematologic(112;0.0378)		287					Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.860C>A	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908341	0.72868	.	.	ENSG00000186306	ENST00000334438	T	0.64260	-0.09	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	D	0.000827	D	0.83857	0.5345	H	0.96633	3.855	0.38734	D	0.953734	D	0.89917	1.0	D	0.79108	0.992	D	0.89753	0.3941	10	0.87932	D	0	.	16.2855	0.82717	0.0:0.0:1.0:0.0	.	287	Q8NGX3	O10T2_HUMAN	H	287	ENSP00000334115:P287H	ENSP00000334115:P287H	P	-	2	0	OR10T2	156635021	1.000000	0.71417	0.975000	0.42487	0.900000	0.52787	7.205000	0.77881	2.359000	0.80004	0.655000	0.94253	CCT		0.433	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		12	23	1	0	1.52009e-12	1	1.92208e-12	12	23				
A1CF	29974	broad.mit.edu	37	10	52601750	52601750	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52601750G>A	ENST00000373993.1	-	3	281	c.237C>T	c.(235-237)atC>atT	p.I79I	A1CF_ENST00000282641.2_Silent_p.I79I|A1CF_ENST00000395495.1_Silent_p.I79I|A1CF_ENST00000395489.2_Silent_p.I72I|A1CF_ENST00000373997.3_Silent_p.I79I|A1CF_ENST00000373995.3_Silent_p.I87I|A1CF_ENST00000374001.2_Silent_p.I79I			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	79	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAATTTTACCGATCTGCAAGT	0.318																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(214-216)atC>atT		APOBEC1 complementation factor							97.0	94.0	95.0					10																	52601750		2202	4299	6501	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52601750G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.237C>T	10.37:g.52601750G>A						A1CF_ENST00000373997.3_Silent_p.I79I|A1CF_ENST00000373993.1_Silent_p.I79I|A1CF_ENST00000373995.3_Silent_p.I87I|A1CF_ENST00000395495.1_Silent_p.I79I|A1CF_ENST00000282641.2_Silent_p.I79I|A1CF_ENST00000374001.1_Silent_p.I79I	p.I72I	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			7	612	-			79			RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.216C>T	CCDS7242.1																																																																																				0.318	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		8	18	0	0	0	1	0	8	18				
WDR47	22911	broad.mit.edu	37	1	109556458	109556458	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109556458C>A	ENST00000369962.3	-	4	550				WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron|WDR47_ENST00000400794.3_Missense_Mutation_p.R111I|WDR47_ENST00000369965.4_Intron			O94967	WDR47_HUMAN	WD repeat domain 47						multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GAATAAAAATCTTACATGCTG	0.368																																						ENST00000400794.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(331-333)aGa>aTa		WD repeat domain 47							92.0	97.0	95.0					1																	109556458		2203	4296	6499	SO:0001627	intron_variant	22911							g.chr1:109556458C>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.327+4G>T	1.37:g.109556458C>A						WDR47_ENST00000357672.3_Intron|WDR47_ENST00000369962.3_Intron|WDR47_ENST00000369965.4_Intron|WDR47_ENST00000361054.3_Intron	p.R111I			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	465	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	109					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.332G>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133367	0.77662	.	.	ENSG00000085433	ENST00000400794	T	0.57436	0.4	5.48	5.48	0.80851	.	.	.	.	.	T	0.23846	0.0577	N	0.08118	0	0.80722	D	1	B	0.34015	0.435	B	0.29440	0.102	T	0.30563	-0.9974	9	0.87932	D	0	.	19.7098	0.96094	0.0:1.0:0.0:0.0	.	111	A8MX09	.	I	111	ENSP00000383599:R111I	ENSP00000383599:R111I	R	-	2	0	WDR47	109357981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.416000	0.80143	2.713000	0.92767	0.655000	0.94253	AGA		0.368	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		19	33	1	0	8.34094e-07	1	9.42356e-07	19	33				
TNNI3	7137	broad.mit.edu	37	19	55665401	55665401	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55665401C>A	ENST00000344887.5	-	7	688	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	182					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCACCTTCTCGGTGTCCT	0.622																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(544-546)gaG>gaT		troponin I type 3 (cardiac)							66.0	69.0	68.0					19																	55665401		2061	4216	6277	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55665401C>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.546G>T	19.37:g.55665401C>A	ENSP00000341838:p.Glu182Asp					TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D	p.E182D	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	688	-			182						Missense_Mutation	SNP	ENST00000344887.5	37	c.546G>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374201	0.42105	.	.	ENSG00000129991	ENST00000344887	D	0.94862	-3.54	4.72	3.67	0.42095	.	0.379769	0.24211	N	0.040530	D	0.88880	0.6557	L	0.31752	0.955	0.45250	D	0.998251	B	0.02656	0.0	B	0.01281	0.0	D	0.84146	0.0420	10	0.52906	T	0.07	-10.4701	7.9263	0.29876	0.0:0.7478:0.1621:0.0902	.	182	P19429	TNNI3_HUMAN	D	182	ENSP00000341838:E182D	ENSP00000341838:E182D	E	-	3	2	TNNI3	60357213	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.445000	0.44899	1.103000	0.41568	0.585000	0.79938	GAG		0.622	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			37	66	1	0	2.75727e-19	1	3.7504e-19	37	66				
LOC100130331	100130331	broad.mit.edu	37	1	238090168	238090168	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:238090168G>A	ENST00000450451.1	+	0	1674					NR_027247.2																						ATTGACAATGGCTCCAGCATG	0.602																																						ENST00000450451.1																			0																																																			0							g.chr1:238090168G>A																													1.37:g.238090168G>A								NR_027247.2						0	1674	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.602	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			8	11	0	0	0	1	0	8	11				
TEX13B	56156	broad.mit.edu	37	X	107224489	107224489	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107224489G>T	ENST00000302917.1	-	3	852	c.760C>A	c.(760-762)Ctc>Atc	p.L254I		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	254										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAAGCCCAGAGAAGACAGACA	0.542																																						ENST00000302917.1																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(760-762)Ctc>Atc		testis expressed 13B							172.0	145.0	154.0					X																	107224489		2199	4300	6499	SO:0001583	missense	0							g.chrX:107224489G>T	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.760C>A	X.37:g.107224489G>T	ENSP00000303777:p.Leu254Ile						p.L254I	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			3	852	-			254					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.760C>A	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980533	0.18812	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.61	-0.308	0.12773	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.09310	N	1	P	0.40180	0.705	B	0.34346	0.18	T	0.12863	-1.0531	8	0.40728	T	0.16	.	2.3087	0.04181	0.1142:0.3555:0.3457:0.1846	.	254	Q9BXU2	TX13B_HUMAN	I	254	.	ENSP00000303777:L254I	L	-	1	0	TEX13B	107111145	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	-0.027000	0.12371	-0.208000	0.10171	-1.092000	0.02172	CTC		0.542	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			11	226	1	0	0.000978159	1	0.00102903	11	226				
IL12A-AS1	101928376	broad.mit.edu	37	3	159818784	159818784	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159818784C>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		CCAGCCTCTTCGAAGACAAAA	0.488																																						ENST00000497452.1																			0																																																			0							g.chr3:159818784C>T	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818784C>T														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.488	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			68	124	0	0	0	1	0	68	124				
HDAC2	3066	broad.mit.edu	37	6	114264533	114264533	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:114264533T>C	ENST00000519065.1	-	12	1736	c.1360A>G	c.(1360-1362)Aca>Gca	p.T454A	HDAC2_ENST00000398283.2_Missense_Mutation_p.T548A|HDAC2_ENST00000519108.1_Missense_Mutation_p.T424A|HDAC2_ENST00000368632.2_Missense_Mutation_p.T424A			Q92769	HDAC2_HUMAN	histone deacetylase 2	454					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	ttgtcctctgtttctttctta	0.333																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(1360-1362)Aca>Gca		histone deacetylase 2	Vorinostat(DB02546)						183.0	169.0	174.0					6																	114264533		1834	4089	5923	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114264533T>C	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1360A>G	6.37:g.114264533T>C	ENSP00000430432:p.Thr454Ala					HDAC2_ENST00000398283.2_Missense_Mutation_p.T548A|HDAC2_ENST00000519108.1_Missense_Mutation_p.T424A|HDAC2_ENST00000368632.2_Missense_Mutation_p.T424A	p.T454A			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	12	1736	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	454					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.1360A>G	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835916	0.32421	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.73789	-0.74;-0.78;-0.74;-0.74	6.16	0.167	0.15006	.	0.393363	0.24046	N	0.042051	T	0.25644	0.0624	N	0.08118	0	0.41321	D	0.987178	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25082	-1.0142	10	0.06891	T	0.86	-3.3612	10.3131	0.43721	0.0:0.3551:0.0:0.6449	.	424;454	B3KRS5;Q92769	.;HDAC2_HUMAN	A	454;548;424;424	ENSP00000430432:T454A;ENSP00000381331:T548A;ENSP00000430008:T424A;ENSP00000357621:T424A	ENSP00000357621:T424A	T	-	1	0	HDAC2	114371226	0.999000	0.42202	0.531000	0.27976	0.965000	0.64279	1.420000	0.34804	-0.168000	0.10853	-0.256000	0.11100	ACA		0.333	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			3	36	0	0	0	1	0	3	36				
HRASLS5	117245	broad.mit.edu	37	11	63235894	63235894	+	Missense_Mutation	SNP	C	C	T	rs370401429		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:63235894C>T	ENST00000301790.4	-	4	578	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	HRASLS5_ENST00000540857.1_Missense_Mutation_p.R130Q|HRASLS5_ENST00000539221.1_Missense_Mutation_p.R140Q			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	140							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATAGCCAATTCGAAAAATCTC	0.423																																						ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(388-390)cGa>cAa		HRAS-like suppressor family, member 5		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	139.0	135.0	136.0		419,389,419	4.4	1.0	11		136	0,8596		0,0,4298	no	missense,missense,missense	HRASLS5	NM_001146728.1,NM_001146729.1,NM_054108.3	43,43,43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	140/254,130/270,140/280	63235894	1,12997	2201	4298	6499	SO:0001583	missense	117245							g.chr11:63235894C>T	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.419G>A	11.37:g.63235894C>T	ENSP00000301790:p.Arg140Gln					HRASLS5_ENST00000301790.4_Missense_Mutation_p.R140Q|HRASLS5_ENST00000539221.1_Missense_Mutation_p.R140Q	p.R130Q	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			4	521	-			140					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.389G>A	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042829	0.93685	2.27E-4	0.0	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.44083	0.93;0.93;0.93	4.37	4.37	0.52481	.	0.000000	0.64402	D	0.000002	T	0.63129	0.2485	M	0.77313	2.365	0.38295	D	0.942817	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.995;0.997	T	0.66929	-0.5799	10	0.48119	T	0.1	-12.0569	12.7263	0.57173	0.0:1.0:0.0:0.0	.	140;130;140	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	Q	130;140;140	ENSP00000444809:R130Q;ENSP00000443873:R140Q;ENSP00000301790:R140Q	ENSP00000301790:R140Q	R	-	2	0	HRASLS5	62992470	0.997000	0.39634	0.997000	0.53966	0.981000	0.71138	4.291000	0.59025	2.715000	0.92844	0.561000	0.74099	CGA		0.423	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		4	90	0	0	0	1	0	4	90				
SPATA18	132671	broad.mit.edu	37	4	52948557	52948557	+	Missense_Mutation	SNP	C	C	T	rs184617860	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:52948557C>T	ENST00000295213.4	+	10	1734	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	SPATA18_ENST00000419395.2_Missense_Mutation_p.R422C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	454					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAACAGATACCGCCGCAGCTA	0.413													C|||	20	0.00399361	0.0	0.0	5008	,	,		17992	0.0149		0.001	False		,,,				2504	0.0041					ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1360-1362)Cgc>Tgc		spermatogenesis associated 18							133.0	123.0	127.0					4																	52948557		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52948557C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1360C>T	4.37:g.52948557C>T	ENSP00000295213:p.Arg454Cys					SPATA18_ENST00000419395.2_Missense_Mutation_p.R422C	p.R454C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		10	1734	+			454					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1360C>T	CCDS3489.1	5	0.0022893772893772895	0	0.0	0	0.0	4	0.006993006993006993	1	0.0013192612137203166	C	29.6	5.022484	0.93462	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.39056	1.1;1.12	6.08	6.08	0.98989	.	0.048927	0.85682	D	0.000000	T	0.58221	0.2107	M	0.69823	2.125	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.054	D;D;B	0.91635	0.999;0.999;0.017	T	0.62623	-0.6815	10	0.62326	D	0.03	-18.5297	18.1573	0.89696	0.0:1.0:0.0:0.0	.	422;454;454	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	C	454;422	ENSP00000295213:R454C;ENSP00000415309:R422C	ENSP00000295213:R454C	R	+	1	0	SPATA18	52643314	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.293000	0.51779	2.894000	0.99253	0.655000	0.94253	CGC		0.413	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		22	63	0	0	0	1	0	22	63				
HEMGN	55363	broad.mit.edu	37	9	100692679	100692679	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100692679A>C	ENST00000259456.3	-	4	1141	c.998T>G	c.(997-999)aTt>aGt	p.I333S		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	333					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTTAGGCACAATAATTTCGTT	0.348																																						ENST00000259456.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(997-999)aTt>aGt		hemogen							241.0	239.0	240.0					9																	100692679		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100692679A>C	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.998T>G	9.37:g.100692679A>C	ENSP00000259456:p.Ile333Ser						p.I333S	NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN			4	1141	-		Acute lymphoblastic leukemia(62;0.0559)	333					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.998T>G	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.542844	0.00934	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.25	1.03	0.20045	.	1.470090	0.03750	N	0.256413	T	0.26702	0.0653	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13442	-1.0509	9	0.11182	T	0.66	0.9637	5.1913	0.15210	0.2706:0.1541:0.5753:0.0	.	333	Q9BXL5	HEMGN_HUMAN	S	333	.	ENSP00000259456:I333S	I	-	2	0	HEMGN	99732500	0.013000	0.17824	0.001000	0.08648	0.003000	0.03518	0.350000	0.20079	0.292000	0.22492	-0.177000	0.13119	ATT		0.348	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		8	132	0	0	0	1	0	8	132				
HEATR1	55127	broad.mit.edu	37	1	236734928	236734928	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:236734928G>T	ENST00000366582.3	-	27	3880	c.3766C>A	c.(3766-3768)Ctt>Att	p.L1256I	HEATR1_ENST00000366581.2_Missense_Mutation_p.L1175I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1256					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGACAACTAAGAATTAATTGT	0.373																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(3766-3768)Ctt>Att		HEAT repeat containing 1							154.0	152.0	153.0					1																	236734928		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236734928G>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3766C>A	1.37:g.236734928G>T	ENSP00000355541:p.Leu1256Ile					HEATR1_ENST00000366581.2_Missense_Mutation_p.L1175I	p.L1256I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		27	3880	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1256					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.3766C>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346850	0.82022	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.69435	-0.4;-0.32	5.36	4.45	0.53987	Armadillo-like helical (1);Armadillo-type fold (1);	0.133891	0.51477	D	0.000089	T	0.81645	0.4866	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	0.964;1.0	D;D	0.91635	0.927;0.999	D	0.83927	0.0304	10	0.66056	D	0.02	.	13.5815	0.61905	0.0745:0.0:0.9255:0.0	.	1175;1256	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	I	1256;1175	ENSP00000355541:L1256I;ENSP00000355540:L1175I	ENSP00000355540:L1175I	L	-	1	0	HEATR1	234801551	1.000000	0.71417	0.986000	0.45419	0.967000	0.64934	6.151000	0.71806	1.255000	0.44051	0.585000	0.79938	CTT		0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		8	22	1	0	0.000157383	1	0.000169016	8	22				
ANKRD27	84079	broad.mit.edu	37	19	33134529	33134529	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:33134529C>T	ENST00000306065.4	-	6	692	c.534G>A	c.(532-534)gcG>gcA	p.A178A	ANKRD27_ENST00000587352.1_Silent_p.A178A	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	178					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGAGAGCATTCGCTGAGTCCT	0.577																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(532-534)gcG>gcA		ankyrin repeat domain 27 (VPS9 domain)							143.0	142.0	142.0					19																	33134529		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33134529C>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.534G>A	19.37:g.33134529C>T						ANKRD27_ENST00000587352.1_Silent_p.A178A	p.A178A	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			6	692	-	Esophageal squamous(110;0.137)		178					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.534G>A	CCDS32986.1																																																																																				0.577	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		79	158	0	0	0	1	0	79	158				
CCKAR	886	broad.mit.edu	37	4	26487334	26487334	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26487334G>T	ENST00000295589.3	-	3	745	c.551C>A	c.(550-552)cCt>cAt	p.P184H		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	184					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTTGGTAAAAGGCACCAAGTT	0.433																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(550-552)cCt>cAt		cholecystokinin A receptor	Ceruletide(DB00403)						121.0	115.0	117.0					4																	26487334		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26487334G>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.551C>A	4.37:g.26487334G>T	ENSP00000295589:p.Pro184His						p.P184H	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			3	745	-		Breast(46;0.0503)	184					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.551C>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740438	0.89573	.	.	ENSG00000163394	ENST00000295589	T	0.39056	1.1	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.054036	0.85682	D	0.000000	T	0.60689	0.2288	L	0.58428	1.81	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	T	0.52866	-0.8518	10	0.30854	T	0.27	.	19.8215	0.96599	0.0:0.0:1.0:0.0	.	184	P32238	CCKAR_HUMAN	H	184	ENSP00000295589:P184H	ENSP00000295589:P184H	P	-	2	0	CCKAR	26096432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.679000	0.91253	0.650000	0.86243	CCT		0.433	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			20	31	1	0	2.4624e-09	1	2.95225e-09	20	31				
KCTD19	146212	broad.mit.edu	37	16	67338374	67338374	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67338374T>G	ENST00000304372.5	-	3	456	c.401A>C	c.(400-402)aAg>aCg	p.K134T	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	134					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCTAATACACTTCCATGTACG	0.488																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(400-402)aAg>aCg		potassium channel tetramerization domain containing 19							167.0	162.0	164.0					16																	67338374		1959	4151	6110	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67338374T>G	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.401A>C	16.37:g.67338374T>G	ENSP00000305702:p.Lys134Thr					KCTD19_ENST00000562860.1_Intron	p.K134T	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	3	456	-		Ovarian(137;0.192)	134					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.401A>C	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725453	0.48833	.	.	ENSG00000168676	ENST00000304372	T	0.69561	-0.41	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.71039	0.3293	N	0.24115	0.695	0.32830	D	0.503956	D	0.76494	0.999	D	0.80764	0.994	T	0.78713	-0.2097	10	0.66056	D	0.02	-16.6317	13.6286	0.62181	0.0:0.0:0.0:1.0	.	134	Q17RG1	KCD19_HUMAN	T	134	ENSP00000305702:K134T	ENSP00000305702:K134T	K	-	2	0	KCTD19	65895875	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	3.488000	0.53229	2.233000	0.73108	0.533000	0.62120	AAG		0.488	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		38	70	0	0	0	1	0	38	70				
IGHD	3495	broad.mit.edu	37	14	106306987	106306987	+	RNA	SNP	G	G	A	rs554004034	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106306987G>A	ENST00000390556.2	-	0	840							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GTCAGACGAGGCCAGCAGGTT	0.677													G|||	3	0.000599042	0.0	0.0	5008	,	,		8890	0.0		0.0	False		,,,				2504	0.0031					ENST00000390556.2																			0																				17.0	21.0	20.0					14																	106306987		2072	4175	6247			0							g.chr14:106306987G>A	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106306987G>A														0	840	-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.677	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		5	8	0	0	0	1	0	5	8				
ZBTB10	65986	broad.mit.edu	37	8	81431737	81431737	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:81431737G>T	ENST00000430430.1	+	7	3369	c.2590G>T	c.(2590-2592)Gaa>Taa	p.E864*	ZBTB10_ENST00000426744.2_Nonsense_Mutation_p.E840*|ZBTB10_ENST00000455036.3_Nonsense_Mutation_p.E864*|ZBTB10_ENST00000379091.4_Nonsense_Mutation_p.E572*	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	864					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGAATCAGGAGAAGTTTGTAT	0.403																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(2590-2592)Gaa>Taa		zinc finger and BTB domain containing 10							80.0	80.0	80.0					8																	81431737		1936	4123	6059	SO:0001587	stop_gained	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81431737G>T	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.2590G>T	8.37:g.81431737G>T	ENSP00000387462:p.Glu864*					ZBTB10_ENST00000379091.4_Nonsense_Mutation_p.E572*|ZBTB10_ENST00000455036.3_Nonsense_Mutation_p.E864*|ZBTB10_ENST00000426744.2_Nonsense_Mutation_p.E840*	p.E864*	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		7	3369	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		864					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Nonsense_Mutation	SNP	ENST00000430430.1	37	c.2590G>T	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143024	0.94560	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	.	.	.	5.54	5.54	0.83059	.	0.276149	0.33753	N	0.004584	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	19.4673	0.94948	0.0:0.0:1.0:0.0	.	.	.	.	X	572;864;840;864;690	.	ENSP00000368384:E572X	E	+	1	0	ZBTB10	81594292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.512000	0.73737	2.607000	0.88179	0.591000	0.81541	GAA		0.403	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		8	11	1	0	0.000442599	1	0.00046913	8	11				
ABCB1	5243	broad.mit.edu	37	7	87168615	87168615	+	Missense_Mutation	SNP	C	C	T	rs199779996		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87168615C>T	ENST00000265724.3	-	20	2783	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R725Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	789	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AACCATGTATCGGAGCCGCTT	0.522																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2365-2367)cGa>cAa		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						127.0	105.0	112.0					7																	87168615		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87168615C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2366G>A	7.37:g.87168615C>T	ENSP00000265724:p.Arg789Gln					ABCB1_ENST00000543898.1_Missense_Mutation_p.R725Q	p.R789Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			20	2783	-	Esophageal squamous(14;0.00164)		789			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2366G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	37	6.106767	0.97291	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.95069	-3.6;-3.6	6.03	6.03	0.97812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.81914	0.995;0.829	D	0.98936	1.0789	10	0.87932	D	0	-12.4978	20.5666	0.99351	0.0:1.0:0.0:0.0	.	725;789	B5AK60;P08183	.;MDR1_HUMAN	Q	570;789;725	ENSP00000265724:R789Q;ENSP00000444095:R725Q	ENSP00000265724:R789Q	R	-	2	0	ABCB1	87006551	1.000000	0.71417	0.956000	0.39512	0.985000	0.73830	7.813000	0.86123	2.854000	0.98071	0.655000	0.94253	CGA		0.522	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		14	26	0	0	0	1	0	14	26				
EOMES	8320	broad.mit.edu	37	3	27760902	27760902	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:27760902G>A	ENST00000295743.4	-	3	1310	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_Silent_p.F74F|EOMES_ENST00000449599.1_Silent_p.F369F			O95936	EOMES_HUMAN	eomesodermin	369					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTAATTTCCCGAATGAAATCT	0.418																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(1105-1107)ttC>ttT		eomesodermin							222.0	204.0	210.0					3																	27760902		2203	4300	6503	SO:0001819	synonymous_variant	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27760902G>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1107C>T	3.37:g.27760902G>A						EOMES_ENST00000449599.1_Silent_p.F369F|EOMES_ENST00000537516.1_Silent_p.F74F|EOMES_ENST00000461503.1_5'UTR	p.F369F			O95936	EOMES_HUMAN			3	1310	-			369					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	ENST00000295743.4	37	c.1107C>T	CCDS2646.1																																																																																				0.418	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		38	75	0	0	0	1	0	38	75				
FCRL3	115352	broad.mit.edu	37	1	157659642	157659642	+	Missense_Mutation	SNP	C	C	T	rs145354138	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:157659642C>T	ENST00000368184.3	-	10	2047	c.1756G>A	c.(1756-1758)Gtc>Atc	p.V586I	FCRL3_ENST00000368186.5_Missense_Mutation_p.V586I|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	586						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)					GCAGCAAGGACGAGGATGCTG	0.567													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17773	0.0		0.0	False		,,,				2504	0.0					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.(1756-1758)Gtc>Atc		Fc receptor-like 3		C	ILE/VAL	0,4406		0,0,2203	137.0	111.0	120.0		1756	1.2	0.0	1	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FCRL3	NM_052939.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	586/735	157659642	1,13005	2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157659642C>T	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.1756G>A	1.37:g.157659642C>T	ENSP00000357167:p.Val586Ile					FCRL3_ENST00000368186.5_Missense_Mutation_p.V586I|FCRL3_ENST00000473231.1_5'UTR	p.V586I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			10	2047	-	all_hematologic(112;0.0378)		586					A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1756G>A	CCDS1167.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	11.01	1.511784	0.27036	0.0	1.16E-4	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.52526	0.67;0.66	5.21	1.2	0.21068	.	46.063000	0.00879	N	0.002110	T	0.08626	0.0214	N	0.14661	0.345	0.09310	N	1	P;P;P	0.47106	0.643;0.89;0.756	B;B;B	0.35114	0.056;0.196;0.075	T	0.25950	-1.0117	10	0.02654	T	1	.	10.0297	0.42092	0.0:0.6783:0.0:0.3217	.	586;491;586	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	I	586	ENSP00000357169:V586I;ENSP00000357167:V586I	ENSP00000292392:V586I	V	-	1	0	FCRL3	155926266	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.023000	0.12456	-0.007000	0.14345	-0.813000	0.03139	GTC		0.567	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		24	36	0	0	0	1	0	24	36				
BCAS3	54828	broad.mit.edu	37	17	58824611	58824611	+	Missense_Mutation	SNP	C	C	T	rs369466598		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58824611C>T	ENST00000390652.5	+	6	405	c.374C>T	c.(373-375)gCg>gTg	p.A125V	BCAS3_ENST00000408905.3_Missense_Mutation_p.A125V|BCAS3_ENST00000588462.1_Missense_Mutation_p.A125V|BCAS3_ENST00000407086.3_Missense_Mutation_p.A125V|Y_RNA_ENST00000516725.1_RNA|BCAS3_ENST00000589222.1_Missense_Mutation_p.A125V	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCAATTCGAGCGGCTAGAATC	0.428																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(373-375)gCg>gTg		breast carcinoma amplified sequence 3		C	VAL/ALA,VAL/ALA	0,3712		0,0,1856	180.0	168.0	172.0		374,374	5.4	1.0	17		172	1,8209		0,1,4104	no	missense,missense	BCAS3	NM_017679.3,NM_001099432.1	64,64	0,1,5960	TT,TC,CC		0.0122,0.0,0.0084	benign,benign	125/914,125/929	58824611	1,11921	1856	4105	5961	SO:0001583	missense	54828					nucleus		g.chr17:58824611C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.374C>T	17.37:g.58824611C>T	ENSP00000375067:p.Ala125Val					BCAS3_ENST00000408905.3_Missense_Mutation_p.A125V|BCAS3_ENST00000407086.3_Missense_Mutation_p.A125V|BCAS3_ENST00000390652.5_Missense_Mutation_p.A125V|BCAS3_ENST00000588462.1_Missense_Mutation_p.A125V	p.A125V			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		6	442	+			125						Missense_Mutation	SNP	ENST00000390652.5	37	c.374C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755426	0.31046	0.0	1.22E-4	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.56611	0.45;0.45;0.45	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);	0.300116	0.36893	N	0.002347	T	0.29882	0.0747	N	0.11756	0.17	0.80722	D	1	B;B;B	0.25563	0.129;0.02;0.015	B;B;B	0.14023	0.01;0.003;0.006	T	0.19224	-1.0312	10	0.02654	T	1	.	14.6479	0.68774	0.0:1.0:0.0:0.0	.	125;125;125	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	V	125	ENSP00000375067:A125V;ENSP00000385323:A125V;ENSP00000386173:A125V	ENSP00000375067:A125V	A	+	2	0	BCAS3	56179393	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	5.456000	0.66665	2.527000	0.85204	0.644000	0.83932	GCG		0.428	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		45	87	0	0	0	1	0	45	87				
SPANXN1	494118	broad.mit.edu	37	X	144337199	144337199	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144337199G>A	ENST00000370493.3	+	2	843	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	28										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCAGGAGACACCAAACA	0.423																																						ENST00000370493.3																			0				endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(82-84)gaG>gaA		SPANX family, member N1							98.0	93.0	94.0					X																	144337199		2203	4297	6500	SO:0001819	synonymous_variant	494118							g.chrX:144337199G>A		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.84G>A	X.37:g.144337199G>A							p.E28E	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	843	+	Acute lymphoblastic leukemia(192;6.56e-05)		28						Silent	SNP	ENST00000370493.3	37	c.84G>A	CCDS35421.1																																																																																				0.423	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		24	67	0	0	0	1	0	24	67				
LATS1	9113	broad.mit.edu	37	6	150001229	150001229	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150001229C>A	ENST00000543571.1	-	5	2922	c.2375G>T	c.(2374-2376)aGc>aTc	p.S792I	LATS1_ENST00000253339.5_Missense_Mutation_p.S792I|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AATTAATAGGCTCATCATATC	0.368																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(2374-2376)aGc>aTc		large tumor suppressor kinase 1							121.0	121.0	121.0					6																	150001229		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001229C>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2375G>T	6.37:g.150001229C>A	ENSP00000437550:p.Ser792Ile					LATS1_ENST00000253339.5_Missense_Mutation_p.S792I|LATS1_ENST00000542747.1_5'UTR	p.S792I	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2922	-		Ovarian(120;0.0164)	792			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2375G>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426984	0.83667	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.08984	3.03;3.03	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.15696	0.0378	L	0.43646	1.37	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.02004	-1.1231	9	.	.	.	.	19.7653	0.96337	0.0:1.0:0.0:0.0	.	792	O95835	LATS1_HUMAN	I	792	ENSP00000437550:S792I;ENSP00000253339:S792I	.	S	-	2	0	LATS1	150042922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	2.730000	0.93505	0.563000	0.77884	AGC		0.368	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		12	77	1	0	0.010729	1	0.0110271	12	77				
NOL10	79954	broad.mit.edu	37	2	10729370	10729370	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10729370G>A	ENST00000381685.5	-	19	1748	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	NOL10_ENST00000345985.3_Missense_Mutation_p.S498L|NOL10_ENST00000542668.1_Missense_Mutation_p.S498L|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000538384.1_Missense_Mutation_p.S522L	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	548						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TGAACTCTCCGAACTTTCTGC	0.493																																						ENST00000345985.3																			0											c.(1492-1494)tCg>tTg		nucleolar protein 10							129.0	127.0	127.0					2																	10729370		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10729370G>A	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1643C>T	2.37:g.10729370G>A	ENSP00000371101:p.Ser548Leu					NOL10_ENST00000542668.1_Missense_Mutation_p.S498L|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000538384.1_Missense_Mutation_p.S522L|NOL10_ENST00000381685.5_Missense_Mutation_p.S548L	p.S498L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	18	1603	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		548					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1493C>T	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418013	0.62622	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.49720	0.77;2.17;1.38;2.17	5.65	5.65	0.86999	.	0.203849	0.52532	D	0.000067	T	0.66187	0.2764	M	0.61703	1.905	0.54753	D	0.999984	P;P;D	0.69078	0.848;0.931;0.997	B;B;D	0.66847	0.048;0.174;0.947	T	0.60752	-0.7201	10	0.32370	T	0.25	-2.4595	19.7284	0.96174	0.0:0.0:1.0:0.0	.	522;548;498	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	L	498;548;498;522	ENSP00000263837:S498L;ENSP00000371101:S548L;ENSP00000437625:S498L;ENSP00000439663:S522L	ENSP00000263837:S498L	S	-	2	0	NOL10	10646821	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.159000	0.77483	2.668000	0.90789	0.591000	0.81541	TCG		0.493	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		18	44	0	0	0	1	0	18	44				
NFIL3	4783	broad.mit.edu	37	9	94171927	94171927	+	Missense_Mutation	SNP	C	C	T	rs34945709		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94171927C>T	ENST00000297689.3	-	2	1484	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	364					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTCGAGTTCGAAATGTCTT	0.408																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(1090-1092)Gaa>Aaa		nuclear factor, interleukin 3 regulated							159.0	152.0	155.0					9																	94171927		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94171927C>T	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.1090G>A	9.37:g.94171927C>T	ENSP00000297689:p.Glu364Lys						p.E364K	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	1484	-			364					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.1090G>A	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421835	0.43020	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.97	4.97	0.65823	Vertebrate interleukin-3 regulated transcription factor (1);	0.446939	0.21451	N	0.074332	T	0.36991	0.0987	L	0.44542	1.39	0.22666	N	0.998876	P	0.41159	0.74	B	0.38327	0.271	T	0.40232	-0.9574	9	0.59425	D	0.04	-8.455	14.0725	0.64868	0.0:0.8495:0.1505:0.0	rs34945709	364	Q16649	NFIL3_HUMAN	K	364	.	ENSP00000297689:E364K	E	-	1	0	NFIL3	93211748	0.998000	0.40836	0.034000	0.17996	0.743000	0.42351	2.886000	0.48578	2.594000	0.87642	0.561000	0.74099	GAA		0.408	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		48	91	0	0	0	1	0	48	91				
GDF9	2661	broad.mit.edu	37	5	132197937	132197937	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132197937A>C	ENST00000378673.2	-	3	1575	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	GDF9_ENST00000296875.2_Missense_Mutation_p.F237V|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	237					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAAGTAAAATTTATAGAC	0.403																																						ENST00000378673.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22						c.(709-711)Ttt>Gtt		growth differentiation factor 9							106.0	105.0	105.0					5																	132197937		2203	4300	6503	SO:0001583	missense	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132197937A>C		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.709T>G	5.37:g.132197937A>C	ENSP00000367942:p.Phe237Val					GDF9_ENST00000296875.2_Missense_Mutation_p.F237V	p.F237V			O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1575	-		all_cancers(142;0.105)|Breast(839;0.198)	237					Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	c.709T>G	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746918	0.30955	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.80566	-1.39;-1.39	5.95	-0.94	0.10405	.	0.416166	0.28515	N	0.015073	T	0.67785	0.2930	L	0.49778	1.585	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.50566	-0.8813	10	0.15066	T	0.55	.	7.1779	0.25755	0.5273:0.3489:0.1238:0.0	.	237	O60383	GDF9_HUMAN	V	237	ENSP00000367942:F237V;ENSP00000296875:F237V	ENSP00000296875:F237V	F	-	1	0	GDF9	132225836	0.130000	0.22417	0.000000	0.03702	0.081000	0.17604	0.461000	0.21940	-0.350000	0.08262	-0.256000	0.11100	TTT		0.403	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		28	45	0	0	0	1	0	28	45				
SUV420H1	51111	broad.mit.edu	37	11	67926511	67926511	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67926511A>C	ENST00000304363.4	-	11	1655	c.1302T>G	c.(1300-1302)aaT>aaG	p.N434K		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	434					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTACCCTGGAATTATTTATAT	0.373																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(1300-1302)aaT>aaG		suppressor of variegation 4-20 homolog 1 (Drosophila)							95.0	99.0	98.0					11																	67926511		2199	4294	6493	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926511A>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1302T>G	11.37:g.67926511A>C	ENSP00000305899:p.Asn434Lys						p.N434K	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	1655	-			434					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1302T>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.668910	0.47677	.	.	ENSG00000110066	ENST00000304363	T	0.47869	0.83	5.55	3.28	0.37604	.	0.290761	0.42294	D	0.000734	T	0.30759	0.0775	L	0.32530	0.975	0.80722	D	1	B	0.27853	0.191	B	0.29267	0.1	T	0.07770	-1.0755	10	0.05721	T	0.95	-19.3032	9.7149	0.40268	0.8616:0.0:0.1384:0.0	.	434	Q4FZB7	SV421_HUMAN	K	434	ENSP00000305899:N434K	ENSP00000305899:N434K	N	-	3	2	SUV420H1	67683087	1.000000	0.71417	0.778000	0.31720	0.769000	0.43574	2.909000	0.48758	0.557000	0.29117	0.482000	0.46254	AAT		0.373	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		20	36	0	0	0	1	0	20	36				
IGHV3-72	28410	broad.mit.edu	37	14	107198998	107198998	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:107198998C>A	ENST00000433072.2	-	0	370									immunoglobulin heavy variable 3-72																		ACAGTGAGTTCTTTGAATCAT	0.502																																						ENST00000433072.2																			0																				156.0	152.0	153.0					14																	107198998		1939	4149	6088			0							g.chr14:107198998C>A	X92206		14q32.33	2012-02-08			ENSG00000225698	ENSG00000225698		"""Immunoglobulins / IGH locus"""	5622	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151865		14.37:g.107198998C>A														0	370	-									RNA	SNP	ENST00000433072.2	37																																																																																						0.502	IGHV3-72-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324210.1	NG_001019		71	127	1	0	4.83677e-39	1	6.979e-39	71	127				
AGK	55750	broad.mit.edu	37	7	141321537	141321537	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141321537T>G	ENST00000355413.4	+	9	784	c.524T>G	c.(523-525)aTt>aGt	p.I175S	AGK_ENST00000473247.1_Missense_Mutation_p.I147S|AGK_ENST00000535825.1_Missense_Mutation_p.I172S	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	175	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TTTAGACATATTACTGATGCC	0.388																																						ENST00000355413.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(523-525)aTt>aGt		acylglycerol kinase							145.0	133.0	137.0					7																	141321537		2203	4300	6503	SO:0001583	missense	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141321537T>G	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.524T>G	7.37:g.141321537T>G	ENSP00000347581:p.Ile175Ser					AGK_ENST00000473247.1_Missense_Mutation_p.I147S|AGK_ENST00000535825.1_Missense_Mutation_p.I172S	p.I175S	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			9	784	+	Melanoma(164;0.0171)		175			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	c.524T>G	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265344	0.59431	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.46819	2.44;2.44;0.86	4.61	3.42	0.39159	ATP-NAD kinase, PpnK-type, alpha/beta (1);Diacylglycerol kinase, catalytic domain (3);	0.267927	0.42294	D	0.000735	T	0.65585	0.2705	M	0.88570	2.965	0.52099	D	0.999947	P	0.37276	0.589	P	0.50896	0.653	T	0.68788	-0.5316	10	0.66056	D	0.02	.	10.5935	0.45323	0.0:0.0:0.1621:0.8379	.	175	Q53H12	AGK_HUMAN	S	175;147;172	ENSP00000347581:I175S;ENSP00000420776:I147S;ENSP00000444349:I172S	ENSP00000347581:I175S	I	+	2	0	AGK	140968006	0.998000	0.40836	0.219000	0.23793	0.930000	0.56654	4.809000	0.62591	0.862000	0.35528	0.459000	0.35465	ATT		0.388	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		3	38	0	0	0	1	0	3	38				
ZNF471	57573	broad.mit.edu	37	19	57036962	57036962	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57036962A>G	ENST00000308031.5	+	5	1659	c.1526A>G	c.(1525-1527)cAt>cGt	p.H509R	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CAGAGAATTCATACTGGAGAG	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1525-1527)cAt>cGt		zinc finger protein 471							64.0	68.0	67.0					19																	57036962		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036962A>G	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1526A>G	19.37:g.57036962A>G	ENSP00000309161:p.His509Arg					ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	p.H509R	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1659	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	509					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1526A>G	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359446	0.61403	.	.	ENSG00000196263	ENST00000308031	T	0.67523	-0.27	3.31	3.31	0.37934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83216	0.5206	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85895	0.1431	9	0.87932	D	0	.	10.7985	0.46474	1.0:0.0:0.0:0.0	.	509	Q9BX82	ZN471_HUMAN	R	509	ENSP00000309161:H509R	ENSP00000309161:H509R	H	+	2	0	ZNF471	61728774	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.530000	0.67141	1.381000	0.46364	0.379000	0.24179	CAT		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		25	42	0	0	0	1	0	25	42				
LCN9	392399	broad.mit.edu	37	9	138556129	138556129	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138556129T>C	ENST00000277526.3	+	2	218	c.218T>C	c.(217-219)tTt>tCt	p.F73S	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	73						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AGCCTAATATTTGATTTCGAA	0.488																																						ENST00000277526.3																			0				kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6						c.(217-219)tTt>tCt		lipocalin 9							97.0	103.0	101.0					9																	138556129		2061	4206	6267	SO:0001583	missense	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138556129T>C	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.218T>C	9.37:g.138556129T>C	ENSP00000277526:p.Phe73Ser					LCN9_ENST00000430290.2_3'UTR	p.F73S	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	2	218	+		Myeloproliferative disorder(178;0.0821)	73					C9J5F0|Q6JVE7	Missense_Mutation	SNP	ENST00000277526.3	37	c.218T>C	CCDS56593.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057869	0.36277	.	.	ENSG00000148386	ENST00000277526	T	0.07567	3.18	3.08	1.89	0.25635	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.38778	N	0.001561	T	0.25494	0.0620	M	0.85945	2.785	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.03268	-1.1054	10	0.72032	D	0.01	-18.2115	5.4092	0.16339	0.2508:0.0:0.0:0.7492	.	73	Q8WX39	LCN9_HUMAN	S	73	ENSP00000277526:F73S	ENSP00000277526:F73S	F	+	2	0	LCN9	137695950	0.005000	0.15991	0.001000	0.08648	0.004000	0.04260	1.172000	0.31908	0.556000	0.29098	0.379000	0.24179	TTT		0.488	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		44	60	0	0	0	1	0	44	60				
BBS7	55212	broad.mit.edu	37	4	122780322	122780322	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122780322C>A	ENST00000264499.4	-	5	536	c.353G>T	c.(352-354)gGc>gTc	p.G118V	BBS7_ENST00000506636.1_Missense_Mutation_p.G118V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	118					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGGTCTGAGCCAGATATGTG	0.318									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(352-354)gGc>gTc		Bardet-Biedl syndrome 7							90.0	95.0	93.0					4																	122780322		2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122780322C>A	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.353G>T	4.37:g.122780322C>A	ENSP00000264499:p.Gly118Val					BBS7_ENST00000506636.1_Missense_Mutation_p.G118V	p.G118V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			5	536	-			118					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.353G>T	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601312	0.87055	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.70869	-0.52;-0.52	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.78637	2.42	0.80722	D	1	P	0.49783	0.928	P	0.51487	0.671	D	0.83597	0.0126	10	0.72032	D	0.01	-11.5544	18.6683	0.91501	0.0:1.0:0.0:0.0	.	118	Q8IWZ6	BBS7_HUMAN	V	118	ENSP00000264499:G118V;ENSP00000423626:G118V	ENSP00000264499:G118V	G	-	2	0	BBS7	122999772	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.492000	0.81482	2.413000	0.81919	0.655000	0.94253	GGC		0.318	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			39	53	1	0	1.03484e-13	1	1.33003e-13	39	53				
ELF2	1998	broad.mit.edu	37	4	139980462	139980462	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:139980462A>C	ENST00000394235.2	-	10	1923	c.1421T>G	c.(1420-1422)aTt>aGt	p.I474S	ELF2_ENST00000265495.4_Missense_Mutation_p.I474S|ELF2_ENST00000379550.1_Missense_Mutation_p.I486S|ELF2_ENST00000379549.2_Missense_Mutation_p.I397S|ELF2_ENST00000510408.1_Missense_Mutation_p.I414S|ELF2_ENST00000358635.3_Missense_Mutation_p.I426S|ELF2_ENST00000515489.1_Intron	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GGTTCCAACAATGTTAATGCT	0.473																																						ENST00000394235.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19						c.(1420-1422)aTt>aGt		E74-like factor 2 (ets domain transcription factor)							86.0	78.0	80.0					4																	139980462		2203	4300	6503	SO:0001583	missense	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:139980462A>C	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1421T>G	4.37:g.139980462A>C	ENSP00000377782:p.Ile474Ser					ELF2_ENST00000379549.2_Missense_Mutation_p.I397S|ELF2_ENST00000265495.4_Missense_Mutation_p.I474S|ELF2_ENST00000358635.3_Missense_Mutation_p.I426S|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000510408.1_Missense_Mutation_p.I414S|ELF2_ENST00000379550.1_Missense_Mutation_p.I486S	p.I474S	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN			10	1923	-	all_hematologic(180;0.162)		486						Missense_Mutation	SNP	ENST00000394235.2	37	c.1421T>G	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469358	0.26423	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	T;T;T;T;T;T	0.12569	2.67;2.87;2.86;2.87;2.86;2.67	5.8	4.61	0.57282	.	0.155420	0.64402	D	0.000020	T	0.09335	0.0230	N	0.24115	0.695	0.40562	D	0.981229	B;B;B;B;B	0.27450	0.179;0.023;0.025;0.012;0.078	B;B;B;B;B	0.21708	0.036;0.022;0.008;0.015;0.022	T	0.21861	-1.0233	9	.	.	.	.	12.4373	0.55606	0.8743:0.0:0.0:0.1257	.	289;474;397;414;426	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	S	426;474;486;474;397;289;414	ENSP00000351458:I426S;ENSP00000377782:I474S;ENSP00000368868:I486S;ENSP00000265495:I474S;ENSP00000368867:I397S;ENSP00000426997:I414S	.	I	-	2	0	ELF2	140199912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.582000	0.74049	1.016000	0.39470	0.528000	0.53228	ATT		0.473	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		28	47	0	0	0	1	0	28	47				
FBXO7	25793	broad.mit.edu	37	22	32894360	32894360	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32894360C>T	ENST00000266087.7	+	9	1739	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	FBXO7_ENST00000382058.3_Missense_Mutation_p.T392M|FBXO7_ENST00000397426.1_Missense_Mutation_p.T357M	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	471	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGGGGAGACGCCCAGCCAG	0.562																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1411-1413)aCg>aTg		F-box protein 7							92.0	85.0	87.0					22																	32894360		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894360C>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1412C>T	22.37:g.32894360C>T	ENSP00000266087:p.Thr471Met					FBXO7_ENST00000397426.1_Missense_Mutation_p.T357M|FBXO7_ENST00000382058.3_Missense_Mutation_p.T392M	p.T471M	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			9	1739	+			471					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.1412C>T	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	9.020	0.984659	0.18889	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.72615	-0.67;-0.11;-0.1	5.93	1.49	0.22878	.	0.404800	0.25726	N	0.028715	T	0.66829	0.2829	L	0.56769	1.78	0.09310	N	1	P;D;P	0.56746	0.918;0.977;0.863	B;P;B	0.46362	0.33;0.514;0.33	T	0.59963	-0.7355	10	0.42905	T	0.14	-0.1531	10.3115	0.43712	0.0:0.6803:0.0:0.3197	.	471;392;471	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	M	471;392;357	ENSP00000266087:T471M;ENSP00000371490:T392M;ENSP00000380571:T357M	ENSP00000266087:T471M	T	+	2	0	FBXO7	31224360	0.001000	0.12720	0.029000	0.17559	0.217000	0.24651	0.080000	0.14802	0.122000	0.18314	0.655000	0.94253	ACG		0.562	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			34	75	0	0	0	1	0	34	75				
NEO1	4756	broad.mit.edu	37	15	73470720	73470720	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73470720G>T	ENST00000339362.5	+	8	1690	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	NEO1_ENST00000558964.1_Missense_Mutation_p.D415Y|NEO1_ENST00000560262.1_Missense_Mutation_p.D415Y|NEO1_ENST00000261908.6_Missense_Mutation_p.D415Y			Q92859	NEO1_HUMAN	neogenin 1	415	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGCTGAAAATGATGTTGGAAA	0.383																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1243-1245)Gat>Tat		neogenin 1							111.0	105.0	107.0					15																	73470720		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73470720G>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1243G>T	15.37:g.73470720G>T	ENSP00000341198:p.Asp415Tyr					NEO1_ENST00000261908.6_Missense_Mutation_p.D415Y|NEO1_ENST00000558964.1_Missense_Mutation_p.D415Y|NEO1_ENST00000560262.1_Missense_Mutation_p.D415Y	p.D415Y			Q92859	NEO1_HUMAN			8	1690	+			415			Ig-like C2-type 4.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1243G>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823601	0.90873	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.67523	-0.27;-0.27	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.089261	0.85682	D	0.000000	T	0.80380	0.4612	L	0.60455	1.87	0.80722	D	1	D;D;P;D	0.71674	0.998;0.985;0.837;0.997	D;D;P;D	0.74348	0.983;0.95;0.903;0.976	T	0.80016	-0.1559	10	0.59425	D	0.04	-19.4476	20.0205	0.97499	0.0:0.0:1.0:0.0	.	415;415;133;415	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	Y	415;133;415	ENSP00000341198:D415Y;ENSP00000261908:D415Y	ENSP00000261908:D415Y	D	+	1	0	NEO1	71257773	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.416000	0.97383	2.801000	0.96364	0.650000	0.86243	GAT		0.383	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		5	18	1	0	0.014758	1	0.015099	5	18				
FANCE	2178	broad.mit.edu	37	6	35425738	35425738	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:35425738C>A	ENST00000229769.2	+	4	1131	c.946C>A	c.(946-948)Ctt>Att	p.L316I		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	316	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GCTACAGCTTCTTCACGAATG	0.498			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(946-948)Ctt>Att	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E							72.0	70.0	71.0					6																	35425738		2203	4300	6503	SO:0001583	missense	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425738C>A	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.946C>A	6.37:g.35425738C>A	ENSP00000229769:p.Leu316Ile						p.L316I	NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN			4	1131	+			316			Interaction with FANCC.		A8K907|Q4ZGH2	Missense_Mutation	SNP	ENST00000229769.2	37	c.946C>A	CCDS4805.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287155	0.59867	.	.	ENSG00000112039	ENST00000229769	T	0.58940	0.3	5.56	4.7	0.59300	Fanconi Anaemia group E protein, C-terminal (1);	0.064498	0.64402	D	0.000005	T	0.65770	0.2723	M	0.74258	2.255	0.41741	D	0.989613	D	0.58620	0.983	D	0.66979	0.948	T	0.71951	-0.4437	10	0.87932	D	0	-2.286	11.4503	0.50149	0.0:0.9165:0.0:0.0835	.	316	Q9HB96	FANCE_HUMAN	I	316	ENSP00000229769:L316I	ENSP00000229769:L316I	L	+	1	0	FANCE	35533716	1.000000	0.71417	0.953000	0.39169	0.431000	0.31685	2.438000	0.44837	1.355000	0.45865	0.561000	0.74099	CTT		0.498	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			42	16	1	0	2.37825e-27	1	3.36934e-27	42	16				
ZAN	7455	broad.mit.edu	37	7	100350691	100350691	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100350691A>C	ENST00000348028.3	+	0	3128				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCCCACAGAAAAACCCACC	0.572																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							166.0	190.0	182.0					7																	100350691		1914	4123	6037			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350691A>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350691A>C						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3111	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	A	11.62	1.691865	0.30052	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.70516	-0.49;-0.49;-0.49	3.46	2.15	0.27550	.	3.248640	0.01415	N	0.014145	T	0.77738	0.4175	L	0.61218	1.895	0.09310	N	0.999998	D;B	0.58268	0.982;0.361	P;B	0.57244	0.816;0.208	T	0.59118	-0.7514	10	0.26408	T	0.33	.	6.085	0.19962	0.7347:0.2653:0.0:0.0	.	988;988	F5H0T8;Q9Y493	.;ZAN_HUMAN	A	988	ENSP00000445943:E988A;ENSP00000445091:E988A;ENSP00000444427:E988A	ENSP00000423579:E988A	E	+	2	0	ZAN	100188627	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.398000	0.07259	1.538000	0.49270	0.533000	0.62120	GAA		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		80	134	0	0	0	1	0	80	134				
FREM1	158326	broad.mit.edu	37	9	14804984	14804984	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:14804984T>G	ENST00000380880.3	-	19	4224	c.3441A>C	c.(3439-3441)gaA>gaC	p.E1147D	FREM1_ENST00000422223.2_Missense_Mutation_p.E1147D|FREM1_ENST00000380881.4_Missense_Mutation_p.E1148D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1147					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTCAGGAGCTTCATCATTTG	0.358																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3442-3444)gaA>gaC		FRAS1 related extracellular matrix 1							110.0	109.0	109.0					9																	14804984		1869	4102	5971	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14804984T>G	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3441A>C	9.37:g.14804984T>G	ENSP00000370262:p.Glu1147Asp					FREM1_ENST00000422223.2_Missense_Mutation_p.E1147D|FREM1_ENST00000380880.3_Missense_Mutation_p.E1147D	p.E1148D			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	20	4259	-			1147					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3444A>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984378	0.74474	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.40756	1.02;1.02;1.02	5.42	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	M	0.91459	3.21	0.45216	D	0.998224	D	0.89917	1.0	D	0.91635	0.999	T	0.70103	-0.4964	10	0.56958	D	0.05	-20.7322	8.3781	0.32455	0.0:0.1501:0.0:0.8499	.	1147	Q5H8C1	FREM1_HUMAN	D	1148;1147;1147	ENSP00000370263:E1148D;ENSP00000412940:E1147D;ENSP00000370262:E1147D	ENSP00000370257:E1150D	E	-	3	2	FREM1	14794984	1.000000	0.71417	0.985000	0.45067	0.935000	0.57460	1.941000	0.40233	0.904000	0.36572	0.528000	0.53228	GAA		0.358	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		24	36	0	0	0	1	0	24	36				
KTN1	3895	broad.mit.edu	37	14	56103931	56103931	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:56103931T>G	ENST00000395314.3	+	11	1633	c.1565T>G	c.(1564-1566)tTt>tGt	p.F522C	KTN1_ENST00000395311.1_Missense_Mutation_p.F522C|KTN1_ENST00000416613.1_Missense_Mutation_p.F522C|KTN1_ENST00000395309.3_Missense_Mutation_p.F522C|KTN1_ENST00000395308.1_Missense_Mutation_p.F522C|KTN1_ENST00000438792.2_Missense_Mutation_p.F522C|KTN1_ENST00000413890.2_Missense_Mutation_p.F522C	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	522					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CAGAGTAAATTTGTGGCCAAA	0.358			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1564-1566)tTt>tGt		kinectin 1 (kinesin receptor)							73.0	76.0	75.0					14																	56103931		2202	4299	6501	SO:0001583	missense	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56103931T>G		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1565T>G	14.37:g.56103931T>G	ENSP00000378725:p.Phe522Cys					KTN1_ENST00000413890.2_Missense_Mutation_p.F522C|KTN1_ENST00000395311.1_Missense_Mutation_p.F522C|KTN1_ENST00000395314.3_Missense_Mutation_p.F522C|KTN1_ENST00000395309.3_Missense_Mutation_p.F522C|KTN1_ENST00000438792.2_Missense_Mutation_p.F522C|KTN1_ENST00000395308.1_Missense_Mutation_p.F522C	p.F522C			Q86UP2	KTN1_HUMAN			10	1637	+			522					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.1565T>G	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841446	0.32513	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.2	2.63	0.31362	.	0.272196	0.26109	N	0.026297	T	0.32436	0.0829	N	0.22421	0.69	0.27212	N	0.959893	B;B;B;B	0.13594	0.002;0.008;0.001;0.002	B;B;B;B	0.10450	0.004;0.005;0.003;0.004	T	0.28996	-1.0026	10	0.52906	T	0.07	-11.2647	10.861	0.46827	0.2492:0.0:0.0:0.7508	.	522;522;522;522	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	C	522	ENSP00000394992:F522C;ENSP00000378720:F522C;ENSP00000391964:F522C;ENSP00000378725:F522C;ENSP00000378719:F522C;ENSP00000378722:F522C;ENSP00000388807:F522C	ENSP00000378719:F522C	F	+	2	0	KTN1	55173684	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.428000	0.52792	0.902000	0.36520	-0.405000	0.06341	TTT		0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			25	28	0	0	0	1	0	25	28				
WDFY3	23001	broad.mit.edu	37	4	85738736	85738736	+	Missense_Mutation	SNP	T	T	G	rs368955541		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:85738736T>G	ENST00000295888.4	-	13	2103	c.1696A>C	c.(1696-1698)Att>Ctt	p.I566L	WDFY3_ENST00000322366.6_Missense_Mutation_p.I566L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	566					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTCGAAAAATTCCTTGAAGG	0.378																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1696-1698)Att>Ctt		WD repeat and FYVE domain containing 3							72.0	75.0	74.0					4																	85738736		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85738736T>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1696A>C	4.37:g.85738736T>G	ENSP00000295888:p.Ile566Leu					WDFY3_ENST00000295888.4_Missense_Mutation_p.I566L	p.I566L			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	13	2103	-		Hepatocellular(203;0.114)	566					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.1696A>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	4.039	0.004847	0.07866	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.61510	0.1;0.1	5.47	4.27	0.50696	Armadillo-like helical (1);	0.119674	0.64402	D	0.000018	T	0.20292	0.0488	N	0.00801	-1.175	0.38823	D	0.955689	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.04855	-1.0922	10	0.11182	T	0.66	.	4.6293	0.12493	0.1438:0.1448:0.0:0.7114	.	566;566	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	L	566	ENSP00000318466:I566L;ENSP00000295888:I566L	ENSP00000295888:I566L	I	-	1	0	WDFY3	85957760	0.991000	0.36638	0.993000	0.49108	0.953000	0.61014	1.293000	0.33353	0.891000	0.36235	0.460000	0.39030	ATT		0.378	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		8	62	0	0	0	1	0	8	62				
GRID2	2895	broad.mit.edu	37	4	94344033	94344033	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:94344033G>A	ENST00000282020.4	+	10	1717	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	GRID2_ENST00000510992.1_Missense_Mutation_p.E392K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	487					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.E487Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TTTTAACTACGAAATTTACGT	0.418																																						ENST00000282020.4																			1	Substitution - Missense(1)	p.E487Q(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1459-1461)Gaa>Aaa		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						119.0	119.0	119.0					4																	94344033		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94344033G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1459G>A	4.37:g.94344033G>A	ENSP00000282020:p.Glu487Lys					GRID2_ENST00000510992.1_Missense_Mutation_p.E392K	p.E487K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1717	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	487					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1459G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444054	0.96187	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.32272	1.46;1.46	5.23	5.23	0.72850	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	L	0.52759	1.655	0.80722	D	1	P;P	0.41188	0.616;0.741	B;B	0.28709	0.035;0.093	T	0.10019	-1.0648	10	0.40728	T	0.16	.	18.8133	0.92068	0.0:0.0:1.0:0.0	.	392;487	E9PH24;O43424	.;GRID2_HUMAN	K	487;392	ENSP00000282020:E487K;ENSP00000421257:E392K	ENSP00000282020:E487K	E	+	1	0	GRID2	94563056	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.864000	0.99589	2.438000	0.82558	0.650000	0.86243	GAA		0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			16	33	0	0	0	1	0	16	33				
IGSF1	3547	broad.mit.edu	37	X	130417108	130417108	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130417108C>A	ENST00000361420.3	-	6	877	c.798G>T	c.(796-798)gaG>gaT	p.E266D	IGSF1_ENST00000370910.1_Missense_Mutation_p.E257D|IGSF1_ENST00000370904.1_Missense_Mutation_p.E257D|IGSF1_ENST00000370903.3_Missense_Mutation_p.E266D			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	266	Ig-like C2-type 3.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAAAGGACTTCTCCAAGTCTT	0.428																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(769-771)gaG>gaT		immunoglobulin superfamily, member 1							105.0	94.0	98.0					X																	130417108		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130417108C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.798G>T	X.37:g.130417108C>A	ENSP00000355010:p.Glu266Asp					IGSF1_ENST00000361420.3_Missense_Mutation_p.E266D|IGSF1_ENST00000370903.3_Missense_Mutation_p.E266D|IGSF1_ENST00000370910.1_Missense_Mutation_p.E257D	p.E257D			Q8N6C5	IGSF1_HUMAN			12	1681	-			266			Ig-like C2-type 3.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.771G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157299	0.09236	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00724	5.78;5.78;5.78;5.78	4.46	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.984718	0.08272	N	0.971318	T	0.00936	0.0031	L	0.41906	1.305	0.09310	N	1	B;B	0.30824	0.006;0.296	B;B	0.33846	0.021;0.171	T	0.49952	-0.8884	10	0.25106	T	0.35	.	4.9039	0.13788	0.2085:0.6789:0.0:0.1126	.	257;266	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	D	257;266;257;266	ENSP00000359947:E257D;ENSP00000355010:E266D;ENSP00000359941:E257D;ENSP00000359940:E266D	ENSP00000355010:E266D	E	-	3	2	IGSF1	130244789	0.998000	0.40836	0.193000	0.23327	0.854000	0.48673	1.239000	0.32719	0.448000	0.26722	0.594000	0.82650	GAG		0.428	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			26	52	1	0	1.66031e-10	1	2.0393e-10	26	52				
DNM1L	10059	broad.mit.edu	37	12	32884447	32884447	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32884447T>C	ENST00000549701.1	+	11	1430		c.e11+2		DNM1L_ENST00000358214.5_Splice_Site|DNM1L_ENST00000381000.4_Splice_Site|DNM1L_ENST00000266481.6_Splice_Site|DNM1L_ENST00000553257.1_Splice_Site|DNM1L_ENST00000547312.1_Splice_Site|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Splice_Site|DNM1L_ENST00000452533.2_Splice_Site			O00429	DNM1L_HUMAN	dynamin 1-like						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGTACACAGGTAACGGAGAGA	0.433																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.e11+2		dynamin 1-like							77.0	75.0	76.0					12																	32884447		2203	4300	6503	SO:0001630	splice_region_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32884447T>C	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1356+2T>C	12.37:g.32884447T>C						DNM1L_ENST00000547312.1_Splice_Site|DNM1L_ENST00000549701.1_Splice_Site|DNM1L_ENST00000414834.2_Splice_Site|DNM1L_ENST00000553257.1_Splice_Site|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Splice_Site|DNM1L_ENST00000358214.5_Splice_Site|DNM1L_ENST00000266481.6_Splice_Site		NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			11	1520	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)							A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Splice_Site	SNP	ENST00000549701.1	37		CCDS8729.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840122	0.71488	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6903	0.69080	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNM1L	32775714	1.000000	0.71417	0.895000	0.35142	0.971000	0.66376	5.852000	0.69488	1.877000	0.54381	0.528000	0.53228	.		0.433	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	Intron	6	61	0	0	0	1	0	6	61				
PDE1A	5136	broad.mit.edu	37	2	183051307	183051307	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183051307C>T	ENST00000410103.1	-	13	1347	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	PDE1A_ENST00000435564.1_Missense_Mutation_p.D422N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D422N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D388N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D406N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D406N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D422N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D422N|PDE1A_ENST00000536095.1_Missense_Mutation_p.D318N	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	422	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.D422N(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ACTATGAAATCGATGAAACCT	0.353																																						ENST00000435564.1																			2	Substitution - Missense(2)	p.D422N(2)	large_intestine(2)	endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(1264-1266)Gat>Aat		phosphodiesterase 1A, calmodulin-dependent							50.0	51.0	51.0					2																	183051307		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183051307C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1264G>A	2.37:g.183051307C>T	ENSP00000387037:p.Asp422Asn					PDE1A_ENST00000351439.5_Missense_Mutation_p.D406N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D388N|PDE1A_ENST00000536095.1_Missense_Mutation_p.D318N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D422N|PDE1A_ENST00000410103.1_Missense_Mutation_p.D422N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D406N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D422N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D422N	p.D422N	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		12	1464	-			422			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.1264G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585478	0.86748	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.57	4.69	0.59074	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.88217	0.6377	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.996;1.0;0.995	P;D;D;D;P	0.91635	0.879;0.999;0.944;0.999;0.876	D	0.89272	0.3605	10	0.87932	D	0	.	13.8299	0.63373	0.0:0.9264:0.0:0.0736	.	318;388;422;406;422	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	N	422;388;318;406;422;406;422;422;422	ENSP00000410309:D422N;ENSP00000329112:D388N;ENSP00000439938:D318N;ENSP00000386767:D406N;ENSP00000331574:D422N;ENSP00000309269:D406N;ENSP00000387037:D422N;ENSP00000350858:D422N;ENSP00000408874:D422N	ENSP00000331574:D422N	D	-	1	0	PDE1A	182759552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.142000	0.77339	1.498000	0.48600	0.655000	0.94253	GAT		0.353	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			7	34	0	0	0	1	0	7	34				
MAGEH1	28986	broad.mit.edu	37	X	55479290	55479290	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55479290C>A	ENST00000342972.1	+	1	753	c.483C>A	c.(481-483)ttC>ttA	p.F161L	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	161	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						AGTATGAGTTCTTCTGGGGGC	0.502																																						ENST00000342972.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						c.(481-483)ttC>ttA		melanoma antigen family H, 1							92.0	89.0	90.0					X																	55479290		2203	4300	6503	SO:0001583	missense	28986				apoptosis			g.chrX:55479290C>A	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.483C>A	X.37:g.55479290C>A	ENSP00000343706:p.Phe161Leu						p.F161L	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN			1	753	+			161			MAGE.		B2R8V9|Q5JRJ3|Q9Y5M2	Missense_Mutation	SNP	ENST00000342972.1	37	c.483C>A	CCDS14369.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.627872	0.28978	.	.	ENSG00000187601	ENST00000342972	T	0.05649	3.41	3.17	1.38	0.22167	.	0.000000	0.35407	N	0.003225	T	0.12433	0.0302	L	0.48218	1.51	0.27036	N	0.964123	D	0.55605	0.972	D	0.64687	0.928	T	0.05084	-1.0907	10	0.51188	T	0.08	-0.2653	5.0055	0.14286	0.0:0.7028:0.0:0.2972	.	161	Q9H213	MAGH1_HUMAN	L	161	ENSP00000343706:F161L	ENSP00000343706:F161L	F	+	3	2	MAGEH1	55496015	0.995000	0.38212	0.806000	0.32338	0.001000	0.01503	0.091000	0.15046	0.239000	0.21243	-0.213000	0.12676	TTC		0.502	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		43	80	1	0	6.2361e-21	1	8.5756e-21	43	80				
SDHA	6389	broad.mit.edu	37	5	251454	251454	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:251454A>G	ENST00000264932.6	+	13	1780	c.1665A>G	c.(1663-1665)ggA>ggG	p.G555G	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Splice_Site_p.G507G	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	555			G -> E (in MT-C2D and CMD1GG). {ECO:0000269|PubMed:12794685, ECO:0000269|PubMed:20551992}.		cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGTCCCCAGGAATGGTCTGGA	0.607									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.e13-1		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						13.0	18.0	17.0					5																	251454		2195	4274	6469	SO:0001630	splice_region_variant	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:251454A>G	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1664-1A>G	5.37:g.251454A>G						SDHA_ENST00000510361.1_Splice_Site_p.G507_splice|SDHA_ENST00000504309.1_Intron	p.G555_splice	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		13	1780	+			555		G -> E (in MT-C2D and CMD1GG).			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Splice_Site	SNP	ENST00000264932.6	37	c.1663_splice	CCDS3853.1																																																																																				0.607	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168	Silent	12	27	0	0	0	1	0	12	27				
MTRF1	9617	broad.mit.edu	37	13	41834816	41834816	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41834816C>A	ENST00000379480.4	-	2	328	c.228G>T	c.(226-228)caG>caT	p.Q76H	MTRF1_ENST00000430347.2_Missense_Mutation_p.Q89H|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Missense_Mutation_p.Q76H	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	76					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CCATATATTTCTGTAGTGCTT	0.423																																						ENST00000379480.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14						c.(226-228)caG>caT		mitochondrial translational release factor 1							198.0	181.0	187.0					13																	41834816		2203	4300	6503	SO:0001583	missense	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41834816C>A	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.228G>T	13.37:g.41834816C>A	ENSP00000368793:p.Gln76His					MTRF1_ENST00000430347.2_Missense_Mutation_p.Q89H|MTRF1_ENST00000379477.1_Missense_Mutation_p.Q76H|MTRF1_ENST00000239852.6_5'UTR	p.Q76H	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	2	328	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	76					B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	37	c.228G>T	CCDS9378.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353031	0.61293	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347;ENST00000239852;ENST00000452359	T;T;T;T	0.26223	2.86;2.86;2.84;1.75	4.83	3.1	0.35709	.	0.063358	0.64402	D	0.000004	T	0.30885	0.0779	L	0.32530	0.975	0.43271	D	0.995225	D;P	0.57899	0.981;0.857	P;P	0.57371	0.819;0.65	T	0.03306	-1.1050	10	0.87932	D	0	-5.639	9.2225	0.37386	0.0:0.7653:0.0:0.2347	.	89;76	B4DG01;O75570	.;RF1M_HUMAN	H	76;76;89;76;76	ENSP00000368793:Q76H;ENSP00000368790:Q76H;ENSP00000400031:Q89H;ENSP00000399279:Q76H	ENSP00000239852:Q76H	Q	-	3	2	MTRF1	40732816	0.998000	0.40836	0.997000	0.53966	0.870000	0.49936	0.367000	0.20382	0.628000	0.30357	0.467000	0.42956	CAG		0.423	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		19	93	1	0	1.01871e-10	1	1.25646e-10	19	93				
MUC16	94025	broad.mit.edu	37	19	9046194	9046194	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9046194C>A	ENST00000397910.4	-	5	35640	c.35437G>T	c.(35437-35439)Gct>Tct	p.A11813S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11815	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A7446T(1)|p.A11813T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGGAGAGCTGTGCTAGTC	0.463																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.A7446T(1)|p.A11813T(1)	central_nervous_system(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35437-35439)Gct>Tct		mucin 16, cell surface associated							82.0	81.0	81.0					19																	9046194		2043	4190	6233	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046194C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35437G>T	19.37:g.9046194C>A	ENSP00000381008:p.Ala11813Ser						p.A11813S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35640	-			11815			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35437G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	7.899	0.733988	0.15574	.	.	ENSG00000181143	ENST00000397910	T	0.02345	4.33	3.14	0.907	0.19321	.	.	.	.	.	T	0.05227	0.0139	L	0.42245	1.32	.	.	.	D	0.58268	0.982	P	0.54965	0.765	T	0.33007	-0.9885	8	0.87932	D	0	.	3.2434	0.06788	0.0:0.4893:0.2443:0.2664	.	11813	B5ME49	.	S	11813	ENSP00000381008:A11813S	ENSP00000381008:A11813S	A	-	1	0	MUC16	8907194	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.814000	0.04486	0.322000	0.23283	0.305000	0.20034	GCT		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	42	1	0	0.00024832	1	0.000265255	4	42				
ZNF25	219749	broad.mit.edu	37	10	38242653	38242653	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38242653C>A	ENST00000302609.7	-	5	484	c.272G>T	c.(271-273)aGa>aTa	p.R91I	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTCCTGGTATCTTGCTTCTAG	0.328																																						ENST00000302609.7																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(271-273)aGa>aTa		zinc finger protein 25							116.0	110.0	112.0					10																	38242653		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38242653C>A	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.272G>T	10.37:g.38242653C>A	ENSP00000302222:p.Arg91Ile					ZNF25_ENST00000374633.1_5'UTR	p.R91I	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN			5	484	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	91					A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.272G>T	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	7.594	0.671395	0.14776	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.05139	3.49	4.83	-0.59	0.11679	.	0.963572	0.08499	N	0.936783	T	0.05181	0.0138	L	0.47716	1.5	0.09310	N	1	P	0.41041	0.736	B	0.33042	0.157	T	0.36456	-0.9747	10	0.52906	T	0.07	-1.1383	4.2883	0.10865	0.0:0.4586:0.1638:0.3776	.	91	P17030	ZNF25_HUMAN	I	91;55	ENSP00000302222:R91I	ENSP00000302222:R91I	R	-	2	0	ZNF25	38282659	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.627000	0.05521	0.066000	0.16515	0.655000	0.94253	AGA		0.328	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		4	31	1	0	0.150653	1	0.151842	4	31				
ZMAT3	64393	broad.mit.edu	37	3	178742906	178742906	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178742906C>T	ENST00000311417.2	-	6	1510	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ZMAT3_ENST00000432729.1_Missense_Mutation_p.E256K	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TCCATCTCTTCGCCAGCTCCA	0.478																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(769-771)Gaa>Aaa		zinc finger, matrin-type 3							157.0	140.0	146.0					3																	178742906		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178742906C>T	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.769G>A	3.37:g.178742906C>T	ENSP00000311221:p.Glu257Lys					ZMAT3_ENST00000432729.1_Missense_Mutation_p.E256K	p.E257K	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		6	1510	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		257						Missense_Mutation	SNP	ENST00000311417.2	37	c.769G>A	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184285	0.57800	.	.	ENSG00000172667	ENST00000311417;ENST00000432729	T;T	0.45276	0.9;0.9	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, U1-type (1);	0.055201	0.64402	D	0.000001	T	0.43942	0.1270	N	0.22421	0.69	0.58432	D	0.999997	D;D	0.61697	0.987;0.99	P;P	0.52031	0.561;0.688	T	0.38436	-0.9661	10	0.48119	T	0.1	-11.7374	19.0927	0.93233	0.0:1.0:0.0:0.0	.	256;257	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	K	257;256	ENSP00000311221:E257K;ENSP00000396506:E256K	ENSP00000311221:E257K	E	-	1	0	ZMAT3	180225600	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.922000	0.70036	2.510000	0.84645	0.650000	0.86243	GAA		0.478	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		30	65	0	0	0	1	0	30	65				
ZNF136	7695	broad.mit.edu	37	19	12298485	12298485	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12298485C>A	ENST00000343979.4	+	4	1432	c.1292C>A	c.(1291-1293)tCt>tAt	p.S431Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.S365Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	431					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GCTTTCGTTTCTTCAACATCA	0.388																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1291-1293)tCt>tAt		zinc finger protein 136							61.0	57.0	58.0					19																	12298485		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298485C>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1292C>A	19.37:g.12298485C>A	ENSP00000344162:p.Ser431Tyr					ZNF136_ENST00000398616.2_Missense_Mutation_p.S365Y	p.S431Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN			4	1432	+			431						Missense_Mutation	SNP	ENST00000343979.4	37	c.1292C>A	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	0.243	-1.012341	0.02095	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.18960	2.18;2.18	1.25	-1.45	0.08828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24198	0.0586	L	0.38953	1.18	0.09310	N	1	D	0.65815	0.995	P	0.60789	0.879	T	0.13469	-1.0508	8	.	.	.	.	3.4327	0.07434	0.5466:0.284:0.0:0.1694	.	431	P52737	ZN136_HUMAN	Y	431;365	ENSP00000344162:S431Y;ENSP00000381617:S365Y	.	S	+	2	0	ZNF136	12159485	0.000000	0.05858	0.001000	0.08648	0.824000	0.46624	-7.147000	0.00043	-0.375000	0.07955	0.655000	0.94253	TCT		0.388	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		4	32	1	0	0.150653	1	0.151842	4	32				
MGAM	8972	broad.mit.edu	37	7	141705362	141705362	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141705362C>A	ENST00000549489.2	+	2	127	c.32C>A	c.(31-33)aCt>aAt	p.T11N	MGAM_ENST00000475668.2_Missense_Mutation_p.T11N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	11					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAATTTACTACTTTGGAGATT	0.299																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(31-33)aCt>aAt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						101.0	95.0	97.0					7																	141705362		1828	4088	5916	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141705362C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.32C>A	7.37:g.141705362C>A	ENSP00000447378:p.Thr11Asn					MGAM_ENST00000549489.2_Missense_Mutation_p.T11N	p.T11N			O43451	MGA_HUMAN			2	86	+	Melanoma(164;0.0272)		11					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.32C>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527264	0.44969	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.89196	-0.73;-2.48;0.65	4.42	1.42	0.22433	.	1.169740	0.06342	N	0.708137	T	0.81795	0.4898	L	0.27053	0.805	0.09310	N	1	B	0.27498	0.18	B	0.22601	0.04	T	0.69518	-0.5124	10	0.62326	D	0.03	.	7.7388	0.28829	0.1746:0.4865:0.3389:0.0	.	11	O43451	MGA_HUMAN	N	11	ENSP00000419372:T11N;ENSP00000447378:T11N;ENSP00000417103:T11N	ENSP00000373973:T11N	T	+	2	0	MGAM	141351831	0.000000	0.05858	0.000000	0.03702	0.988000	0.76386	-2.761000	0.00786	0.300000	0.22699	0.655000	0.94253	ACT		0.299	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			5	4	1	0	0.0215528	1	0.0219788	5	4				
DSC3	1825	broad.mit.edu	37	18	28574328	28574328	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28574328C>T	ENST00000360428.4	-	16	2584	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	835					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGATTACATCGATGCAATTT	0.318																																						ENST00000360428.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2503-2505)cGa>cAa		desmocollin 3							44.0	46.0	46.0					18																	28574328		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28574328C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2504G>A	18.37:g.28574328C>T	ENSP00000353608:p.Arg835Gln					DSC3_ENST00000434452.1_3'UTR	p.R835Q	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		16	2584	-			835					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2504G>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	5.919	0.353578	0.11182	.	.	ENSG00000134762	ENST00000360428	T	0.76060	-0.99	4.91	-2.36	0.06663	Cadherin, cytoplasmic domain (1);	1.857230	0.03944	N	0.287320	T	0.43389	0.1245	N	0.01352	-0.895	0.09310	N	1	B	0.13145	0.007	B	0.20184	0.028	T	0.25847	-1.0120	10	0.35671	T	0.21	.	2.8108	0.05441	0.4791:0.1232:0.0652:0.3326	.	835	Q14574	DSC3_HUMAN	Q	835	ENSP00000353608:R835Q	ENSP00000353608:R835Q	R	-	2	0	DSC3	26828326	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.095000	0.30964	-0.458000	0.07023	-2.217000	0.00297	CGA		0.318	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		13	23	0	0	0	1	0	13	23				
SYT14	255928	broad.mit.edu	37	1	210187141	210187141	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:210187141T>G	ENST00000472886.1	+	3	239	c.225T>G	c.(223-225)atT>atG	p.I75M	SYT14_ENST00000367019.1_Splice_Site_p.I75M|SYT14_ENST00000399639.2_Splice_Site_p.I75M|SYT14_ENST00000422431.1_Splice_Site_p.I120M|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Splice_Site_p.I75M|SYT14_ENST00000537238.1_Splice_Site_p.I37M|SYT14_ENST00000367015.1_Splice_Site_p.I37M			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	75					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGATAAAATTTGTAAGTATC	0.294																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.e4+1		synaptotagmin XIV							73.0	77.0	75.0					1																	210187141		2202	4298	6500	SO:0001630	splice_region_variant	255928					integral to membrane		g.chr1:210187141T>G	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.226+1T>G	1.37:g.210187141T>G						SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Splice_Site_p.I120_splice|SYT14_ENST00000367019.1_Splice_Site_p.I75_splice|SYT14_ENST00000367015.1_Splice_Site_p.I37_splice|SYT14_ENST00000534859.1_Splice_Site_p.I75_splice|SYT14_ENST00000399639.2_Splice_Site_p.I75_splice|SYT14_ENST00000472886.1_Splice_Site_p.I75_splice	p.I37_splice	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	4	502	+			75					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Splice_Site	SNP	ENST00000472886.1	37	c.112_splice	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	T	9.753	1.168113	0.21621	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.18657	3.31;3.21;2.2;3.53;3.21;3.48;3.53	4.96	0.204	0.15199	.	0.633406	0.14578	N	0.311049	T	0.11324	0.0276	N	0.19112	0.55	0.23862	N	0.996634	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.22068	-1.0227	10	0.46703	T	0.11	2.2916	5.4005	0.16293	0.0:0.2513:0.1724:0.5764	.	103;75;75;120	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	M	120;75;75;37;75;75;37	ENSP00000389039:I120M;ENSP00000442891:I75M;ENSP00000445837:I75M;ENSP00000437423:I37M;ENSP00000355986:I75M;ENSP00000418901:I75M;ENSP00000355982:I37M	ENSP00000355982:I37M	I	+	3	3	SYT14	208253764	0.881000	0.30235	0.972000	0.41901	0.922000	0.55478	-0.280000	0.08468	-0.202000	0.10268	0.377000	0.23210	ATT		0.294	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	Missense_Mutation	6	57	0	0	0	1	0	6	57				
MAGEC1	9947	broad.mit.edu	37	X	140996562	140996562	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140996562G>A	ENST00000285879.4	+	4	3658	c.3372G>A	c.(3370-3372)tcG>tcA	p.S1124S	MAGEC1_ENST00000406005.2_Silent_p.S191S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1124										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATGATTCGACTGCCACAG	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3370-3372)tcG>tcA		melanoma antigen family C, 1							89.0	76.0	80.0					X																	140996562		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996562G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3372G>A	X.37:g.140996562G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.S191S	p.S1124S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3658	+	Acute lymphoblastic leukemia(192;6.56e-05)		1124					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3372G>A	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		32	72	0	0	0	1	0	32	72				
AFF1	4299	broad.mit.edu	37	4	87967346	87967346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87967346C>T	ENST00000307808.6	+	2	466	c.46C>T	c.(46-48)Cga>Tga	p.R16*	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Nonsense_Mutation_p.R23*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	16					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAACCTGCTTCGAATTAGAGA	0.403																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(46-48)Cga>Tga		AF4/FMR2 family, member 1							99.0	98.0	98.0					4																	87967346		2203	4300	6503	SO:0001587	stop_gained	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87967346C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.46C>T	4.37:g.87967346C>T	ENSP00000305689:p.Arg16*					AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Nonsense_Mutation_p.R23*	p.R16*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	2	466	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	16					B4DTU1|E9PBM3	Nonsense_Mutation	SNP	ENST00000307808.6	37	c.46C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	37	6.520107	0.97633	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0522	20.27	0.98469	0.0:1.0:0.0:0.0	.	.	.	.	X	23;23;23;23;16	.	ENSP00000305689:R16X	R	+	1	2	AFF1	88186370	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.568000	0.73987	2.854000	0.98071	0.655000	0.94253	CGA		0.403	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		33	67	0	0	0	1	0	33	67				
NPY4R	5540	broad.mit.edu	37	10	47087465	47087465	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087465G>A	ENST00000395716.1	+	2	767	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	NPY4R_ENST00000374312.1_Missense_Mutation_p.G228S			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	228					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCTCCCACTGGGCTTCATCCT	0.607																																						ENST00000374312.1																			0											c.(682-684)Ggc>Agc		neuropeptide Y receptor Y4							191.0	155.0	167.0					10																	47087465		2203	4300	6503	SO:0001583	missense	0							g.chr10:47087465G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.682G>A	10.37:g.47087465G>A	ENSP00000379066:p.Gly228Ser					NPY4R_ENST00000395716.1_Missense_Mutation_p.G228S	p.G228S	NM_005972.4	NP_005963.3					3	1101	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.682G>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	4.227	0.040996	0.08196	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.36157	1.27;1.27	5.12	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	1.012730	0.07890	N	0.971039	T	0.18635	0.0447	N	0.12831	0.26	0.22675	N	0.998865	B	0.19073	0.033	B	0.19946	0.027	T	0.29640	-1.0005	10	0.18276	T	0.48	.	3.6324	0.08137	0.2534:0.2046:0.542:0.0	.	228	P50391	NPY4R_HUMAN	S	228	ENSP00000363431:G228S;ENSP00000379066:G228S	ENSP00000363431:G228S	G	+	1	0	PPYR1	46507471	0.842000	0.29525	0.426000	0.26672	0.313000	0.28021	0.857000	0.27831	1.300000	0.44818	0.609000	0.83330	GGC		0.607	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			6	155	0	0	0	1	0	6	155				
ANK3	288	broad.mit.edu	37	10	61834982	61834982	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61834982G>A	ENST00000280772.2	-	37	5848	c.5657C>T	c.(5656-5658)gCc>gTc	p.A1886V	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1886	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAACTTAAGGGCAGAGGGTGC	0.433																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5656-5658)gCc>gTc		ankyrin 3, node of Ranvier (ankyrin G)							160.0	137.0	145.0					10																	61834982		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834982G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5657C>T	10.37:g.61834982G>A	ENSP00000280772:p.Ala1886Val					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.A1886V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	5848	-			1886			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.5657C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826997	0.50739	.	.	ENSG00000151150	ENST00000280772	T	0.64618	-0.11	5.46	5.46	0.80206	.	0.000000	0.41938	D	0.000796	T	0.47820	0.1466	N	0.20685	0.6	0.80722	D	1	B	0.24963	0.115	B	0.25614	0.062	T	0.44034	-0.9354	10	0.08381	T	0.77	.	19.2951	0.94118	0.0:0.0:1.0:0.0	.	1886	Q12955	ANK3_HUMAN	V	1886	ENSP00000280772:A1886V	ENSP00000280772:A1886V	A	-	2	0	ANK3	61504988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.979000	0.70508	2.574000	0.86865	0.561000	0.74099	GCC		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		26	58	0	0	0	1	0	26	58				
CAPN9	10753	broad.mit.edu	37	1	230928177	230928177	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230928177C>T	ENST00000271971.2	+	16	1841	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	CAPN9_ENST00000366666.2_Silent_p.S513S|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Silent_p.S550S|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000480004.1_3'UTR	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	576	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CACAGACCAGCGGCAATGGGA	0.562																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1648-1650)agC>agT		calpain 9							125.0	114.0	118.0					1																	230928177		2203	4300	6503	SO:0001819	synonymous_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230928177C>T	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1728C>T	1.37:g.230928177C>T						CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Silent_p.S513S|CAPN9_ENST00000271971.2_Silent_p.S576S|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA	p.S550S	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			15	1732	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	576			Domain IV.|EF-hand 1.		B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	c.1650C>T	CCDS1586.1																																																																																				0.562	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		35	96	0	0	0	1	0	35	96				
KRTAP9-4	85280	broad.mit.edu	37	17	39406152	39406152	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39406152C>T	ENST00000334109.2	+	1	214	c.180C>T	c.(178-180)acC>acT	p.T60T		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	60	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTCAAAACACCTGCTGCCAGC	0.642																																						ENST00000334109.2																			0				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(178-180)acC>acT		keratin associated protein 9-4							72.0	63.0	66.0					17																	39406152		2203	4300	6503	SO:0001819	synonymous_variant	85280					keratin filament		g.chr17:39406152C>T	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.180C>T	17.37:g.39406152C>T							p.T60T	NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	214	+		Breast(137;0.000496)	60			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Silent	SNP	ENST00000334109.2	37	c.180C>T	CCDS11386.1																																																																																				0.642	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			52	106	0	0	0	1	0	52	106				
LSM11	134353	broad.mit.edu	37	5	157178487	157178487	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157178487C>T	ENST00000286307.5	+	2	594	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	180	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)	p.R180W(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGGGACTTCGGGGCGTCTG	0.498																																						ENST00000286307.5																			1	Substitution - Missense(1)	p.R180W(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(538-540)Cgg>Tgg		LSM11, U7 small nuclear RNA associated							137.0	132.0	134.0					5																	157178487		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157178487C>T	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.538C>T	5.37:g.157178487C>T	ENSP00000286307:p.Arg180Trp						p.R180W	NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	594	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	180			SM 1.		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.538C>T	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756550	0.89843	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	D	0.84511	0.5488	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85183	0.1005	9	0.87932	D	0	-12.0939	20.5827	0.99408	0.0:1.0:0.0:0.0	.	180	P83369	LSM11_HUMAN	W	180	.	ENSP00000286307:R180W	R	+	1	2	LSM11	157111065	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	4.794000	0.62482	2.941000	0.99782	0.655000	0.94253	CGG		0.498	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		24	57	0	0	0	1	0	24	57				
ABCC10	89845	broad.mit.edu	37	6	43406363	43406363	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:43406363C>T	ENST00000372530.4	+	8	2172	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L	ABCC10_ENST00000244533.3_Splice_Site_p.L625L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	653	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCTCTGCAGGCTGCGTGGGCA	0.622																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e6-1		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							61.0	62.0	62.0					6																	43406363		2203	4300	6503	SO:0001630	splice_region_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43406363C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1956-1C>T	6.37:g.43406363C>T						ABCC10_ENST00000372530.4_Splice_Site_p.L653_splice	p.L625_splice	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	2232	+	all_lung(25;0.00536)		653			ABC transporter 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Splice_Site	SNP	ENST00000372530.4	37	c.1871_splice	CCDS56430.1																																																																																				0.622	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	Silent	14	39	0	0	0	1	0	14	39				
ALPK1	80216	broad.mit.edu	37	4	113352752	113352752	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113352752C>A	ENST00000458497.1	+	11	2328	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	ALPK1_ENST00000504176.2_Missense_Mutation_p.F605L|ALPK1_ENST00000177648.9_Missense_Mutation_p.F683L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	683							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGGCATTTTCTTGGCCCCTG	0.498																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2047-2049)ttC>ttA		alpha-kinase 1							55.0	58.0	57.0					4																	113352752		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352752C>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2049C>A	4.37:g.113352752C>A	ENSP00000398048:p.Phe683Leu					ALPK1_ENST00000177648.9_Missense_Mutation_p.F683L|ALPK1_ENST00000504176.2_Missense_Mutation_p.F605L	p.F683L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2328	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	683					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2049C>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	3.884	-0.025346	0.07589	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02177	4.48;4.48;4.41	5.48	-7.23	0.01480	.	2.457090	0.00960	N	0.003095	T	0.01454	0.0047	N	0.25144	0.715	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.46442	-0.9191	10	0.09338	T	0.73	3.9318	3.7999	0.08754	0.0931:0.1687:0.422:0.3162	.	605;605;683	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	L	683;683;605	ENSP00000398048:F683L;ENSP00000177648:F683L;ENSP00000426044:F605L	ENSP00000177648:F683L	F	+	3	2	ALPK1	113572201	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.257000	0.01180	-1.777000	0.01283	-0.885000	0.02943	TTC		0.498	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		27	37	1	0	6.32553e-13	1	8.04352e-13	27	37				
NSD1	64324	broad.mit.edu	37	5	176675273	176675273	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176675273A>C	ENST00000439151.2	+	11	4634	c.4589A>C	c.(4588-4590)aAa>aCa	p.K1530T	NSD1_ENST00000347982.4_Missense_Mutation_p.K1261T|NSD1_ENST00000361032.4_Missense_Mutation_p.K1427T|NSD1_ENST00000354179.4_Missense_Mutation_p.K1261T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1530					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCTCTAAAAAAATGCAGGGT	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4588-4590)aAa>aCa		nuclear receptor binding SET domain protein 1							87.0	91.0	90.0					5																	176675273		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176675273A>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4589A>C	5.37:g.176675273A>C	ENSP00000395929:p.Lys1530Thr	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.K1261T|NSD1_ENST00000361032.4_Missense_Mutation_p.K1427T|NSD1_ENST00000347982.4_Missense_Mutation_p.K1261T	p.K1530T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	11	4634	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1530					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4589A>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669403	0.47677	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93906	-3.21;-3.22;-3.21;-3.31	5.22	1.36	0.22044	Zinc finger, FYVE/PHD-type (1);	0.315263	0.26824	N	0.022304	D	0.90920	0.7146	L	0.49126	1.545	0.36357	D	0.860469	P;P;P	0.36465	0.554;0.554;0.469	B;B;B	0.42495	0.389;0.276;0.205	D	0.88342	0.2975	10	0.56958	D	0.05	.	9.2013	0.37260	0.5748:0.0:0.4252:0.0	.	1261;1427;1530	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	T	1261;1530;1261;1427	ENSP00000346111:K1261T;ENSP00000395929:K1530T;ENSP00000343209:K1261T;ENSP00000354310:K1427T	ENSP00000343209:K1261T	K	+	2	0	NSD1	176607879	0.998000	0.40836	0.943000	0.38184	0.991000	0.79684	1.713000	0.37951	-0.012000	0.14223	-0.290000	0.09829	AAA		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		13	27	0	0	0	1	0	13	27				
NCOR2	9612	broad.mit.edu	37	12	124831140	124831140	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124831140C>T	ENST00000405201.1	-	31	4329	c.4329G>A	c.(4327-4329)ccG>ccA	p.P1443P	NCOR2_ENST00000429285.2_Silent_p.P1433P|NCOR2_ENST00000397355.1_Silent_p.P1434P|NCOR2_ENST00000404621.1_Silent_p.P1433P|NCOR2_ENST00000356219.3_Silent_p.P1450P|NCOR2_ENST00000404121.2_Silent_p.P1004P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1451					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGAGCGGCCGCGGGGCCAGGG	0.726																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4348-4350)ccG>ccA		nuclear receptor corepressor 2							8.0	10.0	9.0					12																	124831140		1818	3883	5701	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124831140C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4329G>A	12.37:g.124831140C>T						NCOR2_ENST00000429285.2_Silent_p.P1433P|NCOR2_ENST00000397355.1_Silent_p.P1434P|NCOR2_ENST00000404121.2_Silent_p.P1004P|NCOR2_ENST00000404621.1_Silent_p.P1433P|NCOR2_ENST00000405201.1_Silent_p.P1443P	p.P1450P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	32	4505	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1451					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.4350G>A	CCDS41858.2																																																																																				0.726	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		6	9	0	0	0	1	0	6	9				
KIF16B	55614	broad.mit.edu	37	20	16359822	16359822	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:16359822A>C	ENST00000354981.2	-	19	2982	c.2825T>G	c.(2824-2826)cTt>cGt	p.L942R	KIF16B_ENST00000408042.1_Missense_Mutation_p.L942R|KIF16B_ENST00000378003.2_Missense_Mutation_p.L168R|KIF16B_ENST00000355755.3_Missense_Mutation_p.L942R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	942	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TACTTGATAAAGAGTGTTGTC	0.438																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2824-2826)cTt>cGt		kinesin family member 16B							141.0	134.0	136.0					20																	16359822		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359822A>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2825T>G	20.37:g.16359822A>C	ENSP00000347076:p.Leu942Arg					KIF16B_ENST00000378003.2_Missense_Mutation_p.L168R|KIF16B_ENST00000355755.3_Missense_Mutation_p.L942R|KIF16B_ENST00000408042.1_Missense_Mutation_p.L942R	p.L942R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2982	-			942			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2825T>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881886	0.51908	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.41488	0.1161	L	0.59436	1.845	0.53005	D	0.999966	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.12016	-1.0564	10	0.28530	T	0.3	.	14.6987	0.69142	1.0:0.0:0.0:0.0	.	942;942;942;942	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	R	942;942;786;168;942	ENSP00000347076:L942R;ENSP00000347995:L942R;ENSP00000367242:L168R;ENSP00000384164:L942R	ENSP00000347076:L942R	L	-	2	0	KIF16B	16307822	1.000000	0.71417	0.876000	0.34364	0.112000	0.19704	7.238000	0.78173	1.962000	0.57031	0.533000	0.62120	CTT		0.438	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		39	81	0	0	0	1	0	39	81				
HOXA9	3205	broad.mit.edu	37	7	27203258	27203258	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27203258C>A	ENST00000343483.6	-	2	855	c.783G>T	c.(781-783)atG>atT	p.M261I	HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.M101I|RP1-170O19.20_ENST00000465941.1_5'Flank	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	261					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGATTTTCTTCATTTTCATCC	0.483			T	"""NUP98, MSI2"""	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(781-783)atG>atT		homeobox A9							203.0	205.0	204.0					7																	27203258		2203	4300	6503	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203258C>A		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.783G>T	7.37:g.27203258C>A	ENSP00000343619:p.Met261Ile					RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.M101I|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	p.M261I	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			2	855	-			261					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.783G>T	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070616	0.76301	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.96104	-3.91;-3.91	5.21	5.21	0.72293	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	N	0.11427	0.14	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.96329	0.9242	10	0.72032	D	0.01	.	18.1323	0.89605	0.0:1.0:0.0:0.0	.	261	P31269	HXA9_HUMAN	I	261;185;252;101	ENSP00000343619:M261I;ENSP00000421799:M101I	ENSP00000242050:M252I	M	-	3	0	RP1-170O19.20;HOXA9	27169783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.623000	0.88846	0.561000	0.74099	ATG		0.483	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			50	94	1	0	1.21353e-23	1	1.69828e-23	50	94				
ODF1	4956	broad.mit.edu	37	8	103572979	103572979	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:103572979C>T	ENST00000285402.3	+	2	776	c.620C>T	c.(619-621)tCt>tTt	p.S207F	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	207					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CCTTGCACTTCTCCTtgcagc	0.587																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(619-621)tCt>tTt		outer dense fiber of sperm tails 1							92.0	71.0	78.0					8																	103572979		2203	4300	6503	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103572979C>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.620C>T	8.37:g.103572979C>T	ENSP00000285402:p.Ser207Phe					ODF1_ENST00000518835.1_Intron	p.S207F	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		2	776	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		207					Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.620C>T	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954564	0.34471	.	.	ENSG00000155087	ENST00000285402	D	0.87103	-2.21	5.16	4.28	0.50868	.	0.381500	0.22995	N	0.053150	T	0.78648	0.4316	L	0.29908	0.895	0.58432	D	0.999999	B	0.21452	0.056	B	0.14023	0.01	T	0.76626	-0.2890	10	0.87932	D	0	-7.8027	8.6367	0.33953	0.0:0.8978:0.0:0.1022	.	207	Q14990	ODFP1_HUMAN	F	207	ENSP00000285402:S207F	ENSP00000285402:S207F	S	+	2	0	ODF1	103642155	0.489000	0.26004	0.851000	0.33527	0.628000	0.37860	2.143000	0.42187	2.425000	0.82216	0.555000	0.69702	TCT		0.587	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			25	33	0	0	0	1	0	25	33				
TAAR9	134860	broad.mit.edu	37	6	132860038	132860038	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132860038C>A	ENST00000434551.1	+	0	610					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ACTTTGTTTTCTTCTATTCTT	0.438																																					Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							116.0	112.0	113.0					6																	132860038		1849	4098	5947			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132860038C>A	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860038C>A								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	610	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.438	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		38	49	1	0	2.1956e-27	1	3.11292e-27	38	49				
TCF7L2	6934	broad.mit.edu	37	10	114912121	114912121	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:114912121G>A	ENST00000355995.4	+	11	1698	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	TCF7L2_ENST00000352065.5_Silent_p.A374A|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_Silent_p.A40A|TCF7L2_ENST00000538897.1_Silent_p.A397A|TCF7L2_ENST00000543371.1_Silent_p.A397A|TCF7L2_ENST00000536810.1_Silent_p.A397A|TCF7L2_ENST00000545257.1_Silent_p.A397A|TCF7L2_ENST00000369397.4_Silent_p.A374A|TCF7L2_ENST00000369389.1_Silent_p.A108A|TCF7L2_ENST00000534894.1_Silent_p.A397A|TCF7L2_ENST00000542695.1_Silent_p.A113A|TCF7L2_ENST00000355717.4_Silent_p.A421A			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	397					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A397A(1)|p.A374A(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAGAGCAAGCGAAATACTACG	0.502			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	2	Substitution - coding silent(2)	p.A397A(1)|p.A374A(1)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1189-1191)gcG>gcA		transcription factor 7-like 2 (T-cell specific, HMG-box)							186.0	192.0	190.0					10																	114912121		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114912121G>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1191G>A	10.37:g.114912121G>A						TCF7L2_ENST00000542695.1_Silent_p.A113A|TCF7L2_ENST00000543371.1_Silent_p.A397A|TCF7L2_ENST00000536810.1_Silent_p.A397A|TCF7L2_ENST00000538897.1_Silent_p.A397A|TCF7L2_ENST00000369397.4_Silent_p.A374A|TCF7L2_ENST00000355717.4_Silent_p.A421A|TCF7L2_ENST00000369386.1_Silent_p.A40A|TCF7L2_ENST00000352065.5_Silent_p.A374A|TCF7L2_ENST00000369389.1_Silent_p.A108A|TCF7L2_ENST00000545257.1_Silent_p.A397A|TCF7L2_ENST00000534894.1_Silent_p.A397A|TCF7L2_ENST00000466338.1_3'UTR	p.A397A			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	11	1698	+		Breast(234;0.058)|Colorectal(252;0.0615)	397					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.1191G>A																																																																																					0.502	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		101	237	0	0	0	1	0	101	237				
SLC39A10	57181	broad.mit.edu	37	2	196545041	196545041	+	Missense_Mutation	SNP	G	G	A	rs551969264		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196545041G>A	ENST00000409086.3	+	2	550	c.275G>A	c.(274-276)gGa>gAa	p.G92E	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.G92E	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	92					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTGGGCCTTGGAGAGAGAAAA	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19652	0.0		0.0	False		,,,				2504	0.0					ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(274-276)gGa>gAa		solute carrier family 39 (zinc transporter), member 10							74.0	77.0	76.0					2																	196545041		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196545041G>A		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.275G>A	2.37:g.196545041G>A	ENSP00000386766:p.Gly92Glu					SLC39A10_ENST00000359634.5_Missense_Mutation_p.G92E|SLC39A10_ENST00000541054.1_Intron	p.G92E	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		2	550	+			92					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.275G>A	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218528	0.79464	.	.	ENSG00000196950	ENST00000458054;ENST00000409086;ENST00000359634;ENST00000418005	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63319	-0.6664	10	0.41790	T	0.15	.	18.2992	0.90158	0.0:0.0:1.0:0.0	.	92	Q9ULF5	S39AA_HUMAN	E	92	ENSP00000389640:G92E;ENSP00000386766:G92E;ENSP00000352655:G92E;ENSP00000409272:G92E	ENSP00000352655:G92E	G	+	2	0	SLC39A10	196253286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.777000	0.91781	2.557000	0.86248	0.655000	0.94253	GGA		0.338	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		37	43	0	0	0	1	0	37	43				
TRAK2	66008	broad.mit.edu	37	2	202263032	202263032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202263032G>A	ENST00000332624.3	-	6	954	c.526C>T	c.(526-528)Cga>Tga	p.R176*	TRAK2_ENST00000430254.1_Nonsense_Mutation_p.R176*	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	176	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.R176*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGACGATTCGAAGTAACTCA	0.383																																						ENST00000332624.3																			1	Substitution - Nonsense(1)	p.R176*(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(526-528)Cga>Tga		trafficking protein, kinesin binding 2							104.0	97.0	100.0					2																	202263032		2203	4300	6503	SO:0001587	stop_gained	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202263032G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.526C>T	2.37:g.202263032G>A	ENSP00000328875:p.Arg176*					TRAK2_ENST00000430254.1_Nonsense_Mutation_p.R176*	p.R176*	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			6	954	-			176					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Nonsense_Mutation	SNP	ENST00000332624.3	37	c.526C>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	40	8.075624	0.98640	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	14.7862	0.69806	0.0:0.0:0.8557:0.1443	.	.	.	.	X	176;82;176	.	ENSP00000328875:R176X	R	-	1	2	TRAK2	201971277	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.912000	0.69948	2.786000	0.95864	0.563000	0.77884	CGA		0.383	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		20	39	0	0	0	1	0	20	39				
SLC35A3	23443	broad.mit.edu	37	1	100480922	100480922	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:100480922G>T	ENST00000370155.3	+	6	1091	c.699G>T	c.(697-699)aaG>aaT	p.K233N	SLC35A3_ENST00000370153.1_Missense_Mutation_p.K275N|SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Missense_Mutation_p.K233N	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	233					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGGTATCAAAGAATGGATTTT	0.299																																					Ovarian(7;298 356 944 2149 6911)	ENST00000370155.3																			0				biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(697-699)aaG>aaT		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							92.0	96.0	95.0					1																	100480922		2203	4299	6502	SO:0001583	missense	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100480922G>T	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.699G>T	1.37:g.100480922G>T	ENSP00000359174:p.Lys233Asn					SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000427993.2_Missense_Mutation_p.K233N|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370153.1_Missense_Mutation_p.K275N	p.K233N	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	6	1091	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	233					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	c.699G>T	CCDS762.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649938	0.47362	.	.	ENSG00000117620	ENST00000370155;ENST00000427993;ENST00000370153	T;T;T	0.41400	1.0;1.0;1.0	5.28	4.37	0.52481	.	0.097959	0.64402	D	0.000001	T	0.15132	0.0365	N	0.21545	0.675	0.47778	D	0.999512	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.04635	-1.0937	10	0.42905	T	0.14	-22.978	11.3712	0.49699	0.151:0.0:0.849:0.0	.	274;233	Q9Y2D2-2;Q9Y2D2	.;S35A3_HUMAN	N	233;233;275	ENSP00000359174:K233N;ENSP00000414947:K233N;ENSP00000359172:K275N	ENSP00000359172:K275N	K	+	3	2	SLC35A3	100253510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.673000	0.54591	1.368000	0.46115	0.655000	0.94253	AAG		0.299	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		12	25	1	0	7.03913e-09	1	8.36985e-09	12	25				
UCK2	7371	broad.mit.edu	37	1	165860500	165860500	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:165860500A>C	ENST00000367879.4	+	3	600	c.297A>C	c.(295-297)aaA>aaC	p.K99N	UCK2_ENST00000372212.4_Missense_Mutation_p.K99N	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	99					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AAACACTCAAAGAAATCACTG	0.403																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(295-297)aaA>aaC		uridine-cytidine kinase 2							114.0	113.0	113.0					1																	165860500		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165860500A>C	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.297A>C	1.37:g.165860500A>C	ENSP00000356853:p.Lys99Asn					UCK2_ENST00000372212.4_Missense_Mutation_p.K99N	p.K99N	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN			3	600	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		99					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.297A>C	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249973	0.39797	.	.	ENSG00000143179	ENST00000367879;ENST00000372212	.	.	.	5.22	2.92	0.33932	Phosphoribulokinase/uridine kinase (1);	0.229124	0.46442	D	0.000286	T	0.25121	0.0610	L	0.48218	1.51	0.46542	D	0.999099	B	0.21147	0.052	B	0.24394	0.053	T	0.08207	-1.0733	8	0.44086	T	0.13	-24.4626	7.5261	0.27656	0.8215:0.0:0.1785:0.0	.	99	Q9BZX2	UCK2_HUMAN	N	99	.	ENSP00000356853:K99N	K	+	3	2	UCK2	164127124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.468000	0.35332	0.942000	0.37525	0.528000	0.53228	AAA		0.403	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		14	40	0	0	0	1	0	14	40				
IL1A	3552	broad.mit.edu	37	2	113537171	113537171	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113537171T>G	ENST00000263339.3	-	5	547	c.392A>C	c.(391-393)aAa>aCa	p.K131T		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	131					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	GAATTCGTATTTGATGATCCT	0.403																																						ENST00000263339.3																			0				breast(2)|large_intestine(1)|lung(9)	12						c.(391-393)aAa>aCa		interleukin 1, alpha							171.0	134.0	147.0					2																	113537171		2203	4300	6503	SO:0001583	missense	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113537171T>G	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.392A>C	2.37:g.113537171T>G	ENSP00000263339:p.Lys131Thr						p.K131T	NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN			5	547	-			131					Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	c.392A>C	CCDS2101.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991587	0.35131	.	.	ENSG00000115008	ENST00000263339	T	0.21191	2.02	4.44	0.5	0.16919	.	1.166440	0.06161	N	0.675997	T	0.18964	0.0455	L	0.54323	1.7	0.09310	N	1	P	0.43287	0.802	B	0.40565	0.333	T	0.20806	-1.0264	10	0.29301	T	0.29	-34.386	3.1456	0.06471	0.175:0.1959:0.0:0.6291	.	131	P01583	IL1A_HUMAN	T	131	ENSP00000263339:K131T	ENSP00000263339:K131T	K	-	2	0	IL1A	113253642	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	0.164000	0.16542	0.086000	0.17137	0.528000	0.53228	AAA		0.403	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		14	24	0	0	0	1	0	14	24				
ANKRD49	54851	broad.mit.edu	37	11	94229989	94229989	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94229989C>A	ENST00000544612.1	+	2	627	c.130C>A	c.(130-132)Ctt>Att	p.L44I	MRE11A_ENST00000323929.3_5'Flank|ANKRD49_ENST00000544253.1_Missense_Mutation_p.L44I|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L44I|ANKRD49_ENST00000540349.1_Missense_Mutation_p.L44I|MRE11A_ENST00000407439.3_5'Flank|MRE11A_ENST00000323977.3_5'Flank|MRE11A_ENST00000393241.4_5'Flank|MRE11A_ENST00000540013.1_5'Flank	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	44					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACTCAAAGTCTTTGGGTAGG	0.373																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544253.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(130-132)Ctt>Att		ankyrin repeat domain 49							135.0	146.0	142.0					11																	94229989		2201	4298	6499	SO:0001583	missense	54851				positive regulation of transcription, DNA-dependent			g.chr11:94229989C>A	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.130C>A	11.37:g.94229989C>A	ENSP00000440396:p.Leu44Ile					ANKRD49_ENST00000540349.1_Missense_Mutation_p.L44I|ANKRD49_ENST00000544612.1_Missense_Mutation_p.L44I|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L44I	p.L44I			Q8WVL7	ANR49_HUMAN			2	248	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	44					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.130C>A	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975658	0.53720	.	.	ENSG00000168876	ENST00000544612;ENST00000540349;ENST00000535502;ENST00000545130;ENST00000544253;ENST00000541144;ENST00000302755	T;T;T	0.46819	0.86;0.86;0.86	5.31	5.31	0.75309	.	0.273852	0.35739	N	0.003007	T	0.62974	0.2472	M	0.66939	2.045	0.35784	D	0.821852	D;P	0.69078	0.997;0.666	D;B	0.66196	0.942;0.162	T	0.69060	-0.5245	10	0.35671	T	0.21	-12.0392	12.7814	0.57479	0.0:0.9148:0.0:0.0852	.	44;44	F6R851;Q8WVL7	.;ANR49_HUMAN	I	44	ENSP00000440396:L44I;ENSP00000442449:L44I;ENSP00000303518:L44I	ENSP00000303518:L44I	L	+	1	0	ANKRD49	93869637	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.055000	0.30467	2.473000	0.83533	0.591000	0.81541	CTT		0.373	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		12	105	1	0	3.07112e-06	1	3.42433e-06	12	105				
GFRA1	2674	broad.mit.edu	37	10	117849401	117849401	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:117849401C>T	ENST00000355422.6	-	9	1598	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	GFRA1_ENST00000544592.1_Missense_Mutation_p.D229N|GFRA1_ENST00000439649.3_Missense_Mutation_p.D345N|GFRA1_ENST00000369236.1_Missense_Mutation_p.D345N	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	350					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		ACGGTCACATCGGAGCCATTG	0.522																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(1033-1035)Gat>Aat		GDNF family receptor alpha 1							51.0	48.0	49.0					10																	117849401		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117849401C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1048G>A	10.37:g.117849401C>T	ENSP00000347591:p.Asp350Asn					GFRA1_ENST00000369236.1_Missense_Mutation_p.D345N|GFRA1_ENST00000355422.6_Missense_Mutation_p.D350N|GFRA1_ENST00000544592.1_Missense_Mutation_p.D229N	p.D345N	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	8	1400	-		Lung NSC(174;0.21)	350					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.1033G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917601	0.92249	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.52057	1.34;0.68	6.16	6.16	0.99307	.	0.089250	0.85682	D	0.000000	T	0.69351	0.3101	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.954;0.983	T	0.67329	-0.5698	10	0.52906	T	0.07	-23.6343	19.0404	0.92997	0.0:1.0:0.0:0.0	.	350;345	P56159;P56159-2	GFRA1_HUMAN;.	N	350;345;345;229;345	ENSP00000358239:D345N;ENSP00000442179:D229N	ENSP00000347591:D345N	D	-	1	0	GFRA1	117839391	1.000000	0.71417	0.990000	0.47175	0.870000	0.49936	6.742000	0.74843	2.937000	0.99478	0.650000	0.86243	GAT		0.522	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		7	22	0	0	0	1	0	7	22				
GTF3C2	2976	broad.mit.edu	37	2	27565787	27565787	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27565787C>A	ENST00000359541.2	-	3	904	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.D159Y|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000589232.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	159					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGATCTAGGTCTTTTGACAAC	0.552																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(475-477)Gac>Tac		general transcription factor IIIC, polypeptide 2, beta 110kDa							82.0	83.0	82.0					2																	27565787		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27565787C>A	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.475G>T	2.37:g.27565787C>A	ENSP00000352536:p.Asp159Tyr					GTF3C2_ENST00000264720.3_Missense_Mutation_p.D159Y	p.D159Y			Q8WUA4	TF3C2_HUMAN			3	904	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		159					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.475G>T	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067580	0.55539	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.73047	-0.71;-0.71	5.31	5.31	0.75309	.	0.387817	0.24578	N	0.037333	T	0.61123	0.2322	N	0.08118	0	0.34412	D	0.696453	P;B;P	0.42649	0.786;0.34;0.786	P;B;B	0.47251	0.542;0.172;0.413	T	0.73924	-0.3829	10	0.62326	D	0.03	-0.2658	16.5206	0.84315	0.0:1.0:0.0:0.0	.	159;159;159	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	Y	159	ENSP00000352536:D159Y;ENSP00000264720:D159Y	ENSP00000264720:D159Y	D	-	1	0	GTF3C2	27419291	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.467000	0.60155	2.763000	0.94921	0.563000	0.77884	GAC		0.552	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			33	51	1	0	1.99505e-19	1	2.71627e-19	33	51				
MSL3P1	151507	broad.mit.edu	37	2	234774944	234774944	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234774944G>T	ENST00000438684.1	-	0	1170					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											ATTTTTCCAAGAATTTCTGGA	0.438																																						ENST00000438684.1																			0																				121.0	99.0	105.0					2																	234774944		692	1591	2283			0							g.chr2:234774944G>T	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234774944G>T								NR_024322.1						0	1170	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.438	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		23	38	1	0	3.62473e-10	1	4.42315e-10	23	38				
ACSL4	2182	broad.mit.edu	37	X	108902619	108902619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:108902619C>A	ENST00000469796.2	-	15	2338	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	ACSL4_ENST00000340800.2_Nonsense_Mutation_p.E648*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.E607*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	648					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TTCAGTATTTCAGCTTCCATA	0.383																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1942-1944)Gaa>Taa		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						156.0	143.0	148.0					X																	108902619		2203	4300	6503	SO:0001587	stop_gained	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108902619C>A	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1942G>T	X.37:g.108902619C>A	ENSP00000419171:p.Glu648*					ACSL4_ENST00000348502.6_Nonsense_Mutation_p.E607*|ACSL4_ENST00000469796.2_Nonsense_Mutation_p.E648*	p.E648*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			16	2446	-			648					D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	ENST00000469796.2	37	c.1942G>T	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	C	46	12.354814	0.99660	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-21.1423	18.1689	0.89737	0.0:1.0:0.0:0.0	.	.	.	.	X	607;648;648	.	ENSP00000339787:E648X	E	-	1	0	ACSL4	108789275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.957000	0.70323	2.314000	0.78098	0.523000	0.50628	GAA		0.383	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		27	71	1	0	6.32553e-13	1	8.04352e-13	27	71				
IFIT1	3434	broad.mit.edu	37	10	91162430	91162430	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91162430G>A	ENST00000371804.3	+	2	565	c.398G>A	c.(397-399)cGc>cAc	p.R133H	IFIT1_ENST00000546318.1_Missense_Mutation_p.R102H|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	133					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AATCCCTTCCGCTATAGAATG	0.473																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(304-306)cGc>cAc		interferon-induced protein with tetratricopeptide repeats 1							56.0	57.0	56.0					10																	91162430		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162430G>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.398G>A	10.37:g.91162430G>A	ENSP00000360869:p.Arg133His					IFIT1_ENST00000371804.3_Missense_Mutation_p.R133H|LIPA_ENST00000371837.1_Intron	p.R102H	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1592	+			133					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.305G>A	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	G	3.684	-0.064989	0.07273	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.14640	2.49;2.49	5.35	1.3	0.21679	Tetratricopeptide-like helical (1);	0.867295	0.10335	N	0.686981	T	0.12008	0.0292	L	0.53249	1.67	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.34675	-0.9819	10	0.28530	T	0.3	.	4.5654	0.12184	0.3448:0.0:0.504:0.1512	.	133;133	Q5T7J1;P09914	.;IFIT1_HUMAN	H	133;102	ENSP00000360869:R133H;ENSP00000441968:R102H	ENSP00000360869:R133H	R	+	2	0	IFIT1	91152410	0.000000	0.05858	0.006000	0.13384	0.158000	0.22134	-0.079000	0.11357	0.307000	0.22880	0.563000	0.77884	CGC		0.473	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		21	51	0	0	0	1	0	21	51				
NAP1L3	4675	broad.mit.edu	37	X	92927916	92927916	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:92927916G>T	ENST00000373079.3	-	1	651	c.388C>A	c.(388-390)Cat>Aat	p.H130N	FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.H123N|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	130					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						TCAAGATCATGAATTGCTTTT	0.408																																						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.(388-390)Cat>Aat		nucleosome assembly protein 1-like 3							44.0	40.0	41.0					X																	92927916		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927916G>T		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.388C>A	X.37:g.92927916G>T	ENSP00000362171:p.His130Asn					NAP1L3_ENST00000475430.1_5'UTR	p.H130N	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	651	-			130					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.388C>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758669	0.49468	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.28069	1.63	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.69248	2.105	0.29955	N	0.819876	D	0.76494	0.999	D	0.91635	0.999	T	0.39396	-0.9616	10	0.30854	T	0.27	.	6.6314	0.22859	0.1273:0.0:0.8727:0.0	.	130	Q99457	NP1L3_HUMAN	N	130;123	ENSP00000362171:H130N	ENSP00000362171:H130N	H	-	1	0	NAP1L3	92814572	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.829000	0.75314	2.225000	0.72522	0.529000	0.55759	CAT		0.408	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		10	21	1	0	0.000442599	1	0.00046913	10	21				
GALNT12	79695	broad.mit.edu	37	9	101585576	101585576	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101585576G>T	ENST00000375011.3	+	2	410	c.410G>T	c.(409-411)aGg>aTg	p.R137M		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	137	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AATTTGCCCAGGACATCTGTT	0.453																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(409-411)aGg>aTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							101.0	103.0	103.0					9																	101585576		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101585576G>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.410G>T	9.37:g.101585576G>T	ENSP00000364150:p.Arg137Met						p.R137M	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			2	410	+		Acute lymphoblastic leukemia(62;0.0559)	137			Catalytic subdomain A.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.410G>T	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406294	0.42715	.	.	ENSG00000119514	ENST00000375011	T	0.59906	0.23	5.37	-5.43	0.02632	.	0.436240	0.27068	N	0.021092	T	0.40272	0.1110	L	0.43923	1.385	0.09310	N	0.999995	P	0.49559	0.925	B	0.41036	0.346	T	0.48222	-0.9054	10	0.72032	D	0.01	.	7.9715	0.30130	0.279:0.3614:0.3596:0.0	.	137	Q8IXK2	GLT12_HUMAN	M	137	ENSP00000364150:R137M	ENSP00000364150:R137M	R	+	2	0	GALNT12	100625397	0.160000	0.22878	0.247000	0.24249	0.904000	0.53231	0.851000	0.27751	-0.966000	0.03587	-1.261000	0.01458	AGG		0.453	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		20	37	1	0	2.4624e-09	1	2.95225e-09	20	37				
AHCYL2	23382	broad.mit.edu	37	7	129045047	129045047	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:129045047C>A	ENST00000325006.3	+	8	1189	c.1135C>A	c.(1135-1137)Ctt>Att	p.L379I	AHCYL2_ENST00000474594.1_Missense_Mutation_p.L276I|AHCYL2_ENST00000490911.1_Missense_Mutation_p.L276I|AHCYL2_ENST00000446544.2_Missense_Mutation_p.L378I|RNU7-16P_ENST00000516471.1_RNA|AHCYL2_ENST00000446212.1_Missense_Mutation_p.L277I|AHCYL2_ENST00000531335.2_Missense_Mutation_p.L298I	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	379					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.L379I(1)|p.L276I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TGAATCAATTCTTGATGGGTA	0.393																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			2	Substitution - Missense(2)	p.L379I(1)|p.L276I(1)	endometrium(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1135-1137)Ctt>Att		adenosylhomocysteinase-like 2							186.0	185.0	186.0					7																	129045047		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129045047C>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1135C>A	7.37:g.129045047C>A	ENSP00000315931:p.Leu379Ile					AHCYL2_ENST00000446544.2_Missense_Mutation_p.L378I|AHCYL2_ENST00000531335.2_Missense_Mutation_p.L298I|AHCYL2_ENST00000446212.1_Missense_Mutation_p.L277I|AHCYL2_ENST00000474594.1_Missense_Mutation_p.L276I|AHCYL2_ENST00000490911.1_Missense_Mutation_p.L276I	p.L379I	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			8	1189	+			379					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1135C>A	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.555257|2.555257	0.45487|0.45487	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.76968	.|-1.06;-1.05;-1.03;-1.02;-1.02;-1.02	5.82|5.82	5.82|5.82	0.92795|0.92795	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68467|0.68467	0.3004|0.3004	N|N	0.16166|0.16166	0.38|0.38	0.42004|0.42004	D|D	0.990905|0.990905	.|B;B;B;B;B	.|0.30326	.|0.03;0.03;0.276;0.03;0.233	.|B;B;B;B;B	.|0.43658	.|0.298;0.298;0.426;0.298;0.301	T|T	0.63633|0.63633	-0.6593|-0.6593	5|10	.|0.16420	.|T	.|0.52	-13.5863|-13.5863	10.9327|10.9327	0.47228|0.47228	0.0:0.9157:0.0:0.0843|0.0:0.9157:0.0:0.0843	.|.	.|276;277;379;276;378	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	L|I	285|379;378;298;276;277;276	.|ENSP00000315931:L379I;ENSP00000413639:L378I;ENSP00000431787:L298I;ENSP00000420459:L276I;ENSP00000405267:L277I;ENSP00000420801:L276I	.|ENSP00000315931:L379I	F|L	+|+	3|1	2|0	AHCYL2|AHCYL2	128832283|128832283	0.941000|0.941000	0.31946|0.31946	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.805000|0.805000	0.27112|0.27112	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	TTC|CTT		0.393	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			25	128	1	0	3.6726e-16	1	4.87283e-16	25	128				
FAM107B	83641	broad.mit.edu	37	10	14572353	14572353	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14572353C>T	ENST00000378470.1	-	2	392	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	FAM107B_ENST00000378465.3_Missense_Mutation_p.E36K|FAM107B_ENST00000478076.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378458.2_Missense_Mutation_p.E36K|FAM107B_ENST00000378467.4_Missense_Mutation_p.E36K|FAM107B_ENST00000468747.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378462.1_Missense_Mutation_p.E36K|FAM107B_ENST00000471815.1_5'UTR|FAM107B_ENST00000181796.2_Missense_Mutation_p.E211K|FAM107B_ENST00000496330.1_Missense_Mutation_p.E36K|FAM107B_ENST00000479731.1_Missense_Mutation_p.E36K	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	36					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATAAGAAGTTCTCTGTGAAGA	0.333																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(631-633)Gaa>Aaa		family with sequence similarity 107, member B							112.0	110.0	111.0					10																	14572353		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14572353C>T	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.106G>A	10.37:g.14572353C>T	ENSP00000367731:p.Glu36Lys					FAM107B_ENST00000471815.1_5'UTR|FAM107B_ENST00000378470.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378465.3_Missense_Mutation_p.E36K|FAM107B_ENST00000378467.4_Missense_Mutation_p.E36K|FAM107B_ENST00000478076.1_Missense_Mutation_p.E36K|FAM107B_ENST00000468747.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378458.2_Missense_Mutation_p.E36K|FAM107B_ENST00000479731.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378462.1_Missense_Mutation_p.E36K|FAM107B_ENST00000496330.1_Missense_Mutation_p.E36K	p.E211K	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			3	864	-			36					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000378470.1	37	c.631G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.230626	0.95207	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012;ENST00000482277;ENST00000472095	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.21	5.21	0.72293	.	0.047324	0.85682	N	0.000000	T	0.80808	0.4694	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.989	D	0.83639	0.0149	10	0.87932	D	0	-11.5042	17.7337	0.88386	0.0:1.0:0.0:0.0	.	211;36	Q9H098-2;Q9H098	.;F107B_HUMAN	K	36;211;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36	ENSP00000367731:E36K;ENSP00000181796:E211K;ENSP00000418120:E36K;ENSP00000367728:E36K;ENSP00000367726:E36K;ENSP00000367719:E36K;ENSP00000417782:E36K;ENSP00000367723:E36K;ENSP00000418330:E36K;ENSP00000419603:E36K;ENSP00000420444:E36K;ENSP00000413676:E36K;ENSP00000420249:E36K;ENSP00000418395:E36K;ENSP00000417242:E36K;ENSP00000420314:E36K;ENSP00000397949:E36K;ENSP00000417845:E36K;ENSP00000419064:E36K	ENSP00000181796:E211K	E	-	1	0	FAM107B	14612359	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.436000	0.82500	0.591000	0.81541	GAA		0.333	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453		22	56	0	0	0	1	0	22	56				
PRDM5	11107	broad.mit.edu	37	4	121675763	121675763	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121675763T>C	ENST00000264808.3	-	14	1808	c.1568A>G	c.(1567-1569)gAa>gGa	p.E523G	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Missense_Mutation_p.E492G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	523					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATCCTTTTTCACAGTAAGG	0.378																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1567-1569)gAa>gGa		PR domain containing 5							111.0	99.0	104.0					4																	121675763		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121675763T>C	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1568A>G	4.37:g.121675763T>C	ENSP00000264808:p.Glu523Gly					PRDM5_ENST00000428209.2_Missense_Mutation_p.E492G|PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000506065.1_5'UTR	p.E523G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			14	1808	-			523					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1568A>G	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	6.005	0.369362	0.11352	.	.	ENSG00000138738	ENST00000264808;ENST00000428209	T;T	0.08008	3.14;4.27	5.84	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056999	0.64402	D	0.000003	T	0.02193	0.0068	N	0.00637	-1.305	0.80722	D	1	B;B	0.27679	0.185;0.001	B;B	0.27380	0.079;0.002	T	0.40059	-0.9583	10	0.02654	T	1	-15.4247	10.9215	0.47167	0.0:0.0744:0.0:0.9255	.	492;523	Q9NQX1-2;Q9NQX1	.;PRDM5_HUMAN	G	523;492	ENSP00000264808:E523G;ENSP00000404832:E492G	ENSP00000264808:E523G	E	-	2	0	PRDM5	121895213	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.933000	0.75874	1.041000	0.40125	-0.353000	0.07706	GAA		0.378	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			16	19	0	0	0	1	0	16	19				
POU3F4	5456	broad.mit.edu	37	X	82763427	82763427	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:82763427G>A	ENST00000373200.2	+	1	159	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	32					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGTCCTTTCCGCAACCCTCAG	0.597																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(94-96)cGc>cAc		POU class 3 homeobox 4							53.0	40.0	44.0					X																	82763427		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763427G>A	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.95G>A	X.37:g.82763427G>A	ENSP00000362296:p.Arg32His					RP3-326L13.2_ENST00000607095.1_RNA	p.R32H	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	159	+			32					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.95G>A	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872459	0.51695	.	.	ENSG00000196767	ENST00000373200	D	0.89050	-2.46	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	M	0.72353	2.195	0.54753	D	0.999989	P	0.48230	0.907	B	0.34242	0.178	D	0.89209	0.3563	10	0.87932	D	0	.	15.2276	0.73361	0.0:0.0:1.0:0.0	.	32	P49335	PO3F4_HUMAN	H	32	ENSP00000362296:R32H	ENSP00000362296:R32H	R	+	2	0	POU3F4	82650083	1.000000	0.71417	0.982000	0.44146	0.177000	0.22998	6.523000	0.73787	2.187000	0.69744	0.597000	0.82753	CGC		0.597	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		18	23	0	0	0	1	0	18	23				
KCNAB1	7881	broad.mit.edu	37	3	156232899	156232899	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:156232899C>T	ENST00000490337.1	+	10	819	c.755C>T	c.(754-756)tCt>tTt	p.S252F	KCNAB1_ENST00000389636.5_Missense_Mutation_p.S223F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.S241F|KCNAB1_ENST00000302490.8_Missense_Mutation_p.S234F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.S205F	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	252					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAGCCTATTCTGTAGCAAGA	0.423																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(700-702)tCt>tTt		potassium voltage-gated channel, shaker-related subfamily, beta member 1							84.0	84.0	84.0					3																	156232899		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156232899C>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.755C>T	3.37:g.156232899C>T	ENSP00000419952:p.Ser252Phe					KCNAB1_ENST00000389636.5_Missense_Mutation_p.S223F|KCNAB1_ENST00000389634.5_Missense_Mutation_p.S205F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Missense_Mutation_p.S241F|KCNAB1_ENST00000490337.1_Missense_Mutation_p.S252F	p.S234F	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		10	1572	+			252					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.701C>T	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379899	0.82682	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.29	4.41	0.53225	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.992;0.992;0.994;0.983;0.994	T	0.65981	-0.6036	10	0.72032	D	0.01	-12.4407	14.2254	0.65855	0.1507:0.8493:0.0:0.0	.	223;205;234;241;252	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	F	252;223;241;234;205	ENSP00000419952:S252F;ENSP00000374287:S223F;ENSP00000418956:S241F;ENSP00000305858:S234F;ENSP00000374285:S205F	ENSP00000305858:S234F	S	+	2	0	KCNAB1	157715593	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.468000	0.80943	1.222000	0.43521	0.655000	0.94253	TCT		0.423	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		14	49	0	0	0	1	0	14	49				
OAS2	4939	broad.mit.edu	37	12	113436156	113436156	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:113436156A>G	ENST00000342315.4	+	5	1163	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.T317A	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	317	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAAGCTCAAACCTGGTTGAC	0.433																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(949-951)Acc>Gcc		2'-5'-oligoadenylate synthetase 2, 69/71kDa							142.0	132.0	135.0					12																	113436156		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113436156A>G	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.949A>G	12.37:g.113436156A>G	ENSP00000342278:p.Thr317Ala					OAS2_ENST00000342315.4_Missense_Mutation_p.T317A|RP1-71H24.1_ENST00000552784.1_RNA	p.T317A	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			5	1156	+			317			OAS domain 1.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.949A>G	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	A	0.113	-1.136078	0.01742	.	.	ENSG00000111335	ENST00000342315;ENST00000392583;ENST00000552756	T;T;T	0.39787	1.06;1.06;1.06	3.82	-7.29	0.01451	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	4.958410	0.01296	N	0.010163	T	0.14399	0.0348	N	0.04148	-0.265	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.31280	-0.9949	10	0.02654	T	1	-24.8946	4.1128	0.10067	0.1636:0.1376:0.5621:0.1367	.	317;317	P29728;P29728-2	OAS2_HUMAN;.	A	317;317;242	ENSP00000342278:T317A;ENSP00000376362:T317A;ENSP00000446977:T242A	ENSP00000342278:T317A	T	+	1	0	OAS2	111920539	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.536000	0.00940	-1.091000	0.03065	0.377000	0.23210	ACC		0.433	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			32	74	0	0	0	1	0	32	74				
CCT6B	10693	broad.mit.edu	37	17	33269503	33269503	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33269503C>A	ENST00000314144.5	-	7	1000	c.885G>T	c.(883-885)aaG>aaT	p.K295N	CCT6B_ENST00000436961.3_Splice_Site_p.K250N|CCT6B_ENST00000421975.3_Splice_Site_p.K258N	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	295					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCTTTCTCACCTTTTGATTAA	0.323																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.e7+1		chaperonin containing TCP1, subunit 6B (zeta 2)							61.0	58.0	59.0					17																	33269503		2203	4296	6499	SO:0001630	splice_region_variant	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33269503C>A	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.885+1G>T	17.37:g.33269503C>A						CCT6B_ENST00000421975.3_Splice_Site_p.K258_splice|CCT6B_ENST00000436961.3_Splice_Site_p.K250_splice	p.K295_splice	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN			7	1000	-		Ovarian(249;0.17)	295					B4DX20|B4DYB0|Q8TC34	Splice_Site	SNP	ENST00000314144.5	37	c.885_splice	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544197	0.65198	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	D;D;D	0.82255	-1.59;-1.59;-1.59	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.94843	0.8334	H	0.99565	4.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.995;0.98	D	0.96419	0.9310	9	.	.	.	-10.1058	13.4123	0.60950	0.0:1.0:0.0:0.0	.	250;258;295	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	N	258;295;250	ENSP00000398044:K258N;ENSP00000327191:K295N;ENSP00000400917:K250N	.	K	-	3	2	CCT6B	30293616	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.033000	0.76504	2.062000	0.61559	0.467000	0.42956	AAG		0.323	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584	Missense_Mutation	10	13	1	0	1.76689e-08	1	2.08373e-08	10	13				
KLKB1	3818	broad.mit.edu	37	4	187175855	187175855	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187175855A>C	ENST00000264690.6	+	12	1614	c.1427A>C	c.(1426-1428)aAa>aCa	p.K476T	KLKB1_ENST00000513864.1_Missense_Mutation_p.K476T	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	476	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAAAACTATAAAGTCTCAGAA	0.363																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1426-1428)aAa>aCa		kallikrein B, plasma (Fletcher factor) 1							72.0	76.0	74.0					4																	187175855		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187175855A>C	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1427A>C	4.37:g.187175855A>C	ENSP00000264690:p.Lys476Thr					KLKB1_ENST00000513864.1_Missense_Mutation_p.K476T	p.K476T	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	12	1614	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	476			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1427A>C	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.714|0.714	-0.786076|-0.786076	0.02907|0.02907	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	D|D;D	0.92911|0.92752	-3.13|-3.1;-3.1	5.8|5.8	0.52|0.52	0.17040|0.17040	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.631279|0.631279	0.16717|0.16717	N|N	0.202436|0.202436	T|T	0.81014|0.81014	0.4735|0.4735	N|N	0.11364|0.11364	0.135|0.135	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.14805	.|0.011;0.001;0.011	.|B;B;B	.|0.18561	.|0.022;0.013;0.022	T|T	0.66654|0.66654	-0.5869|-0.5869	8|10	0.49607|0.33141	T|T	0.09|0.24	.|.	7.9264|7.9264	0.29876|0.29876	0.5945:0.1034:0.302:0.0|0.5945:0.1034:0.302:0.0	.|.	.|438;476;476	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	Q|T	524|476;476;438	ENSP00000426629:K524Q|ENSP00000264690:K476T;ENSP00000424469:K476T	ENSP00000426629:K524Q|ENSP00000264690:K476T	K|K	+|+	1|2	0|0	KLKB1|KLKB1	187412849|187412849	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.052000|0.052000	0.14988|0.14988	0.233000|0.233000	0.17911|0.17911	-0.377000|-0.377000	0.07930|0.07930	-1.139000|-1.139000	0.01908|0.01908	AAG|AAA		0.363	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		24	34	0	0	0	1	0	24	34				
MATN3	4148	broad.mit.edu	37	2	20200270	20200270	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:20200270C>A	ENST00000407540.3	-	5	1162	c.1100G>T	c.(1099-1101)aGa>aTa	p.R367I	MATN3_ENST00000421259.2_Missense_Mutation_p.R325I|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	367	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R367K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACCCTGTTCTGTCATTCAC	0.388																																						ENST00000407540.3																			1	Substitution - Missense(1)	p.R367K(1)	skin(1)	central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13						c.(1099-1101)aGa>aTa		matrilin 3							75.0	70.0	72.0					2																	20200270		1847	4097	5944	SO:0001583	missense	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20200270C>A	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.1100G>T	2.37:g.20200270C>A	ENSP00000383894:p.Arg367Ile					MATN3_ENST00000421259.2_Missense_Mutation_p.R325I|AC079145.4_ENST00000416575.1_RNA	p.R367I	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN			5	1162	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		367			EGF-like 3.		B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	c.1100G>T	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993570	0.35131	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	T;T	0.63913	-0.04;-0.07	5.72	4.84	0.62591	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.677397	0.14653	N	0.306488	T	0.35740	0.0942	N	0.05487	-0.04	0.20638	N	0.999876	P;P	0.42908	0.793;0.536	B;B	0.34138	0.176;0.163	T	0.09335	-1.0679	10	0.37606	T	0.19	0.0068	7.5886	0.28008	0.0:0.7486:0.0:0.2514	.	325;367	B2CPU0;O15232	.;MATN3_HUMAN	I	367;325	ENSP00000383894:R367I;ENSP00000398753:R325I	ENSP00000383894:R367I	R	-	2	0	MATN3	20063751	0.008000	0.16893	0.759000	0.31340	0.892000	0.51952	0.645000	0.24782	1.549000	0.49425	0.591000	0.81541	AGA		0.388	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		10	24	1	0	2.74318e-10	1	3.35981e-10	10	24				
MFF	56947	broad.mit.edu	37	2	228207487	228207487	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228207487G>T	ENST00000353339.3	+	7	986	c.545G>T	c.(544-546)aGa>aTa	p.R182I	MFF_ENST00000409616.1_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.R182I|MFF_ENST00000349901.7_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.R156I|MFF_ENST00000304593.9_Intron|MFF_ENST00000354503.6_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	182					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TCTGCCCCAAGAAATAAAATT	0.348																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(544-546)aGa>aTa		mitochondrial fission factor							74.0	78.0	77.0					2																	228207487		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228207487G>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.545G>T	2.37:g.228207487G>T	ENSP00000302037:p.Arg182Ile					MFF_ENST00000354503.6_Intron|MFF_ENST00000304593.9_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.R156I|MFF_ENST00000409616.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.R182I|MFF_ENST00000409565.1_Intron	p.R182I	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			7	986	+			182					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.545G>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318475	0.60524	.	.	ENSG00000168958	ENST00000353339;ENST00000530359;ENST00000337110;ENST00000534203;ENST00000392059	T;T	0.33438	1.41;1.41	5.31	5.31	0.75309	.	0.074094	0.51477	D	0.000095	T	0.42108	0.1188	N	0.22421	0.69	0.54753	D	0.999984	D;D	0.67145	0.962;0.996	P;D	0.75020	0.605;0.985	T	0.20306	-1.0279	10	0.38643	T	0.18	-8.4793	17.5049	0.87742	0.0:0.0:1.0:0.0	.	156;182	Q9GZY8-3;Q9GZY8	.;MFF_HUMAN	I	182;27;156;27;182	ENSP00000302037:R182I;ENSP00000375912:R182I	ENSP00000338412:R156I	R	+	2	0	MFF	227915731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.069000	0.71209	2.644000	0.89710	0.655000	0.94253	AGA		0.348	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		16	56	1	0	4.7546e-09	1	5.67505e-09	16	56				
FRMPD1	22844	broad.mit.edu	37	9	37737115	37737115	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37737115C>T	ENST00000539465.1	+	14	2017	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	FRMPD1_ENST00000541302.1_Missense_Mutation_p.S344F|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S297F|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S475F			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	475	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCTGGAATCCAACAGTGCA	0.458																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1423-1425)tCc>tTc		FERM and PDZ domain containing 1							144.0	130.0	135.0					9																	37737115		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37737115C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1424C>T	9.37:g.37737115C>T	ENSP00000444411:p.Ser475Phe					FRMPD1_ENST00000377765.3_Missense_Mutation_p.S475F|FRMPD1_ENST00000541302.1_Missense_Mutation_p.S344F|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S297F	p.S475F			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	14	2017	+			475			FERM.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1424C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552430	0.86127	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.45	5.45	0.79879	FERM domain (1);	0.059939	0.64402	D	0.000001	T	0.32376	0.0827	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.963;0.985	T	0.01504	-1.1338	10	0.87932	D	0	-19.2891	16.7758	0.85550	0.0:1.0:0.0:0.0	.	344;475	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	F	475;475;297;344	ENSP00000366995:S475F;ENSP00000444411:S475F;ENSP00000437762:S297F;ENSP00000444804:S344F	ENSP00000366995:S475F	S	+	2	0	FRMPD1	37727115	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.196000	0.58407	2.557000	0.86248	0.591000	0.81541	TCC		0.458	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		32	59	0	0	0	1	0	32	59				
OCRL	4952	broad.mit.edu	37	X	128710410	128710410	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128710410G>T	ENST00000371113.4	+	18	2161	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	OCRL_ENST00000357121.5_Missense_Mutation_p.D666Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	666	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCGAGGCAAAGATTACTTCTT	0.433																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1996-1998)Gat>Tat		oculocerebrorenal syndrome of Lowe							177.0	146.0	157.0					X																	128710410		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128710410G>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1996G>T	X.37:g.128710410G>T	ENSP00000360154:p.Asp666Tyr					OCRL_ENST00000357121.5_Missense_Mutation_p.D666Y	p.D666Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			18	2161	+			666					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1996G>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446346	0.84101	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.21191	2.02;2.02	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65269	-0.6209	10	0.87932	D	0	.	18.1109	0.89536	0.0:0.0:1.0:0.0	.	666;666	Q01968-2;Q01968	.;OCRL_HUMAN	Y	666	ENSP00000360154:D666Y;ENSP00000349635:D666Y	ENSP00000349635:D666Y	D	+	1	0	OCRL	128538091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.499000	0.84300	0.594000	0.82650	GAT		0.433	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		6	62	1	0	0.00116845	1	0.00122532	6	62				
ARL14	80117	broad.mit.edu	37	3	160395267	160395267	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160395267A>C	ENST00000320767.2	+	1	320	c.133A>C	c.(133-135)Ata>Cta	p.I45L		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	45					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CATCCCTACAATAGGTTTCAA	0.413																																						ENST00000320767.2																			0				lung(6)	6						c.(133-135)Ata>Cta		ADP-ribosylation factor-like 14							122.0	114.0	117.0					3																	160395267		2203	4300	6503	SO:0001583	missense	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395267A>C	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.133A>C	3.37:g.160395267A>C	ENSP00000323847:p.Ile45Leu						p.I45L	NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	320	+			45					Q9H655	Missense_Mutation	SNP	ENST00000320767.2	37	c.133A>C	CCDS3192.1	.	.	.	.	.	.	.	.	.	.	A	9.933	1.215308	0.22373	.	.	ENSG00000179674	ENST00000320767	T	0.70516	-0.49	5.56	-2.95	0.05564	Small GTP-binding protein domain (1);	0.295155	0.38058	N	0.001830	T	0.60728	0.2291	L	0.45285	1.41	0.09310	N	0.999999	P	0.35192	0.489	B	0.38428	0.273	T	0.60010	-0.7346	10	0.87932	D	0	-11.9918	12.5167	0.56036	0.4918:0.0:0.5082:0.0	.	45	Q8N4G2	ARL14_HUMAN	L	45	ENSP00000323847:I45L	ENSP00000323847:I45L	I	+	1	0	ARL14	161877961	0.085000	0.21516	0.001000	0.08648	0.034000	0.12701	0.650000	0.24858	-0.461000	0.06993	-0.456000	0.05471	ATA		0.413	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		24	50	0	0	0	1	0	24	50				
FLVCR1	28982	broad.mit.edu	37	1	213062579	213062579	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:213062579T>G	ENST00000366971.4	+	8	1703	c.1505T>G	c.(1504-1506)tTt>tGt	p.F502C	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	502					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GTCTGGATGTTTATAGGCATC	0.368																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1504-1506)tTt>tGt		feline leukemia virus subgroup C cellular receptor 1							108.0	105.0	106.0					1																	213062579		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213062579T>G	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1505T>G	1.37:g.213062579T>G	ENSP00000355938:p.Phe502Cys					FLVCR1_ENST00000483790.1_3'UTR	p.F502C	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	8	1703	+			502					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.1505T>G	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.602815|4.602815	0.87157|0.87157	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	T|.	0.59772|.	0.24|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.045544|.	0.85682|.	D|.	0.000000|.	T|T	0.77565|0.77565	0.4149|0.4149	M|M	0.80847|0.80847	2.515|2.515	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.63880|.	0.993|.	P|.	0.55391|.	0.775|.	T|T	0.78843|0.78843	-0.2044|-0.2044	10|5	0.45353|.	T|.	0.12|.	-13.8239|-13.8239	16.0545|16.0545	0.80788|0.80788	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	502|.	Q9Y5Y0|.	FLVC1_HUMAN|.	C|V	502|301	ENSP00000355938:F502C|.	ENSP00000355938:F502C|.	F|L	+|+	2|1	0|2	FLVCR1|FLVCR1	211129202|211129202	0.977000|0.977000	0.34250|0.34250	0.913000|0.913000	0.36048|0.36048	0.996000|0.996000	0.88848|0.88848	5.672000|5.672000	0.68102|0.68102	2.272000|2.272000	0.75746|0.75746	0.455000|0.455000	0.32223|0.32223	TTT|TTA		0.368	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		11	49	0	0	0	1	0	11	49				
SKIV2L2	23517	broad.mit.edu	37	5	54640967	54640967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54640967C>T	ENST00000230640.5	+	10	1305	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.R250*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	351					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GCAAGTGCTTCGAGATGCAGG	0.358																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1051-1053)Cga>Tga		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							58.0	62.0	61.0					5																	54640967		2203	4300	6503	SO:0001587	stop_gained	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54640967C>T	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1051C>T	5.37:g.54640967C>T	ENSP00000230640:p.Arg351*					SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.R250*	p.R351*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			10	1305	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	351					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Nonsense_Mutation	SNP	ENST00000230640.5	37	c.1051C>T	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166685	0.94768	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	.	.	.	5.38	4.39	0.52855	.	0.110908	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-17.1855	13.2486	0.60039	0.2673:0.7327:0.0:0.0	.	.	.	.	X	351;250	.	ENSP00000230640:R351X	R	+	1	2	SKIV2L2	54676724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.078000	0.57606	2.681000	0.91329	0.585000	0.79938	CGA		0.358	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			8	18	0	0	0	1	0	8	18				
ADRA1B	147	broad.mit.edu	37	5	159398918	159398918	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:159398918G>A	ENST00000306675.3	+	2	1105	c.982G>A	c.(982-984)Gcc>Acc	p.A328T		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	328					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	GCCCCCCGACGCCGTGTTCAA	0.602																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(982-984)Gcc>Acc		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						32.0	36.0	35.0					5																	159398918		2196	4282	6478	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159398918G>A	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.982G>A	5.37:g.159398918G>A	ENSP00000306662:p.Ala328Thr						p.A328T	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	1105	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	328					B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.982G>A	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	G	4.978	0.181585	0.09495	.	.	ENSG00000170214	ENST00000306675	T	0.36699	1.24	4.55	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.453994	0.24031	N	0.042183	T	0.08802	0.0218	N	0.01209	-0.955	0.29218	N	0.874097	B	0.02656	0.0	B	0.04013	0.001	T	0.33394	-0.9870	10	0.02654	T	1	.	3.9473	0.09353	0.2728:0.0:0.5417:0.1855	.	328	P35368	ADA1B_HUMAN	T	328	ENSP00000306662:A328T	ENSP00000306662:A328T	A	+	1	0	ADRA1B	159331496	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.799000	0.27028	0.920000	0.36970	0.455000	0.32223	GCC		0.602	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			20	62	0	0	0	1	0	20	62				
RDH14	57665	broad.mit.edu	37	2	18736896	18736896	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:18736896G>T	ENST00000381249.3	-	2	679	c.572C>A	c.(571-573)tCt>tAt	p.S191Y	NT5C1B-RDH14_ENST00000532967.1_3'UTR|RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	191					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	AAGTTTGGAAGAAACTACCAC	0.418																																						ENST00000381249.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(571-573)tCt>tAt		retinol dehydrogenase 14 (all-trans/9-cis/11-cis)							54.0	60.0	58.0					2																	18736896		2203	4299	6502	SO:0001583	missense	57665							g.chr2:18736896G>T	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19979	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 4"""		"""retinol dehydrogenase 14 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.572C>A	2.37:g.18736896G>T	ENSP00000370648:p.Ser191Tyr					NT5C1B-RDH14_ENST00000532967.1_3'UTR|RDH14_ENST00000468071.1_5'UTR	p.S191Y	NM_020905.3	NP_065956.1					2	679	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)								Missense_Mutation	SNP	ENST00000381249.3	37	c.572C>A	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598906	0.87055	.	.	ENSG00000240857;ENSG00000250741	ENST00000381249;ENST00000444297	D;T	0.94497	-3.44;1.09	5.67	5.67	0.87782	NAD(P)-binding domain (1);	.	.	.	.	D	0.98532	0.9510	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.967;0.992	D	0.99353	1.0915	9	0.87932	D	0	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	505;191	C9J2C7;Q9HBH5	.;RDH14_HUMAN	Y	191;505	ENSP00000370648:S191Y;ENSP00000412639:S505Y	ENSP00000412639:S505Y	S	-	2	0	NT5C1B-RDH14;RDH14	18600377	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.869000	0.99810	2.687000	0.91594	0.655000	0.94253	TCT		0.418	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			8	54	1	0	0.0381472	1	0.0387537	8	54				
HAUS5	23354	broad.mit.edu	37	19	36110954	36110954	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36110954C>A	ENST00000203166.5	+	16	1472	c.1447C>A	c.(1447-1449)Ctg>Atg	p.L483M	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	483					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CATCCACCAGCTGCACCCCGC	0.652																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1447-1449)Ctg>Atg		HAUS augmin-like complex, subunit 5							82.0	95.0	91.0					19																	36110954		2015	4159	6174	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36110954C>A	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1447C>A	19.37:g.36110954C>A	ENSP00000439056:p.Leu483Met					HAUS5_ENST00000379045.2_3'UTR	p.L483M	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			16	1472	+			483					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1447C>A	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887681	0.52014	.	.	ENSG00000249115	ENST00000203166	T	0.39592	1.07	4.81	4.81	0.61882	.	0.329988	0.25601	N	0.029558	T	0.59998	0.2235	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57148	-0.7861	10	0.38643	T	0.18	-7.8347	15.4156	0.74966	0.0:1.0:0.0:0.0	.	483	O94927	HAUS5_HUMAN	M	483	ENSP00000439056:L483M	ENSP00000439056:L483M	L	+	1	2	HAUS5	40802794	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	0.484000	0.22308	2.502000	0.84385	0.655000	0.94253	CTG		0.652	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			62	114	1	0	4.09171e-25	1	5.75624e-25	62	114				
RSC1A1	6248	broad.mit.edu	37	1	15987291	15987291	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15987291T>G	ENST00000345034.1	+	1	928	c.928T>G	c.(928-930)Tta>Gta	p.L310V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	310					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCAGGATTTACAGCCCCC	0.393																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(928-930)Tta>Gta		regulatory solute carrier protein, family 1, member 1							70.0	70.0	70.0					1																	15987291		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987291T>G	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.928T>G	1.37:g.15987291T>G	ENSP00000341963:p.Leu310Val					DDI2_ENST00000480945.1_3'UTR	p.L310V	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	928	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	310					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.928T>G	CCDS161.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.581910	0.28180	.	.	ENSG00000215695	ENST00000345034	T	0.27557	1.66	5.61	3.23	0.37069	.	0.962599	0.08514	N	0.934443	T	0.21468	0.0517	L	0.29908	0.895	0.25809	N	0.984411	B	0.23377	0.084	B	0.20767	0.031	T	0.30592	-0.9973	10	0.30078	T	0.28	-11.8213	5.4631	0.16627	0.0:0.0943:0.3357:0.57	.	310	Q92681	RSCA1_HUMAN	V	310	ENSP00000341963:L310V	ENSP00000341963:L310V	L	+	1	2	RSC1A1	15859878	0.990000	0.36364	0.998000	0.56505	0.289000	0.27227	1.649000	0.37281	0.388000	0.25054	0.459000	0.35465	TTA		0.393	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		31	30	0	0	0	1	0	31	30				
DEFB118	117285	broad.mit.edu	37	20	29960797	29960797	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:29960797C>A	ENST00000253381.2	+	2	229	c.196C>A	c.(196-198)Cct>Act	p.P66T		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	66					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAGGCGAGTTCCTGCGACATC	0.438																																						ENST00000253381.2																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(196-198)Cct>Act		defensin, beta 118							155.0	138.0	144.0					20																	29960797		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960797C>A	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.196C>A	20.37:g.29960797C>A	ENSP00000253381:p.Pro66Thr						p.P66T	NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	229	+	all_hematologic(12;0.158)		66					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.196C>A	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259971	0.23051	.	.	ENSG00000131068	ENST00000253381	T	0.06933	3.24	3.05	-0.314	0.12750	.	6.986190	0.00481	N	0.000127	T	0.05686	0.0149	N	0.24115	0.695	0.09310	N	1	B	0.34290	0.447	B	0.24394	0.053	T	0.29610	-1.0006	10	0.72032	D	0.01	-10.2018	3.6552	0.08218	0.4392:0.4276:0.0:0.1332	.	66	Q96PH6	DB118_HUMAN	T	66	ENSP00000253381:P66T	ENSP00000253381:P66T	P	+	1	0	DEFB118	29424458	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.885000	0.04161	-0.035000	0.13691	0.655000	0.94253	CCT		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		38	79	1	0	3.33393e-15	1	4.38315e-15	38	79				
DMRTC2	63946	broad.mit.edu	37	19	42352862	42352862	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42352862G>T	ENST00000269945.3	+	5	498		c.e5-1		DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Splice_Site	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2						male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGCCCCTGCAGAACTCCTGTG	0.622																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.e5-1		DMRT-like family C2							84.0	96.0	92.0					19																	42352862		2203	4300	6503	SO:0001630	splice_region_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42352862G>T	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.448-1G>T	19.37:g.42352862G>T						DMRTC2_ENST00000596827.1_Splice_Site|DMRTC2_ENST00000602098.1_3'UTR		NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			5	498	+								Q8N6Q2|Q96M39|Q96SD4	Splice_Site	SNP	ENST00000269945.3	37		CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408165	0.42715	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.88	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7877	0.08707	0.0951:0.1572:0.5684:0.1793	.	.	.	.	.	-1	.	.	.	+	.	.	DMRTC2	47044702	0.996000	0.38824	0.998000	0.56505	0.902000	0.53008	0.937000	0.28951	0.537000	0.28751	0.561000	0.74099	.		0.622	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283	Intron	64	119	1	0	1.25706e-45	1	1.82083e-45	64	119				
DMGDH	29958	broad.mit.edu	37	5	78350097	78350097	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78350097T>C	ENST00000255189.3	-	4	478	c.450A>G	c.(448-450)caA>caG	p.Q150Q	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000520388.1_5'Flank	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	150					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCGAGTCATTTGATATTTAA	0.408																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(448-450)caA>caG		dimethylglycine dehydrogenase							94.0	88.0	90.0					5																	78350097		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78350097T>C	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.450A>G	5.37:g.78350097T>C						DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	p.Q150Q	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	4	478	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	150					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.450A>G	CCDS4044.1																																																																																				0.408	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		15	41	0	0	0	1	0	15	41				
CFAP43	80217	broad.mit.edu	37	10	105923953	105923953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105923953G>A	ENST00000357060.3	-	24	3260	c.3145C>T	c.(3145-3147)Cga>Tga	p.R1049*	WDR96_ENST00000428666.1_Nonsense_Mutation_p.R1050*	NM_025145.5	NP_079421.5												p.R1049*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATAATTTCTCGAATTCGAACA	0.373																																						ENST00000357060.3																			1	Substitution - Nonsense(1)	p.R1049*(1)	large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3145-3147)Cga>Tga		WD repeat domain 96							126.0	111.0	116.0					10																	105923953		2203	4299	6502	SO:0001587	stop_gained	80217							g.chr10:105923953G>A																												ENST00000357060.3:c.3145C>T	10.37:g.105923953G>A	ENSP00000349568:p.Arg1049*					WDR96_ENST00000428666.1_Nonsense_Mutation_p.R1050*	p.R1049*	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			24	3260	-			1049						Nonsense_Mutation	SNP	ENST00000357060.3	37	c.3145C>T	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	G	40	8.380088	0.98786	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	.	.	.	6.06	-5.27	0.02763	.	0.833329	0.10859	N	0.626352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	5.8204	0.18524	0.0596:0.3319:0.1974:0.4112	.	.	.	.	X	1049;1050	.	ENSP00000349568:R1049X	R	-	1	2	WDR96	105913943	0.097000	0.21791	0.801000	0.32222	0.939000	0.58152	0.230000	0.17852	-0.441000	0.07201	0.650000	0.86243	CGA		0.373	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	29	0	0	0	1	0	10	29				
ZNF536	9745	broad.mit.edu	37	19	31025807	31025807	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31025807C>T	ENST00000355537.3	+	3	2371	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	742					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCGCTGCTTCGCGACAGAAG	0.577																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2224-2226)Cgc>Tgc		zinc finger protein 536							112.0	113.0	113.0					19																	31025807		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31025807C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2224C>T	19.37:g.31025807C>T	ENSP00000347730:p.Arg742Cys						p.R742C	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			3	2371	+	Esophageal squamous(110;0.0834)		742					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2224C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420139	0.62622	.	.	ENSG00000198597	ENST00000355537	T	0.11604	2.76	5.81	4.71	0.59529	.	0.114428	0.64402	D	0.000014	T	0.19046	0.0457	N	0.19112	0.55	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.01436	-1.1355	10	0.87932	D	0	-36.0487	13.6112	0.62080	0.2647:0.7353:0.0:0.0	.	742;742	A7E228;O15090	.;ZN536_HUMAN	C	742	ENSP00000347730:R742C	ENSP00000347730:R742C	R	+	1	0	ZNF536	35717647	1.000000	0.71417	0.758000	0.31321	0.972000	0.66771	2.394000	0.44450	2.746000	0.94184	0.591000	0.81541	CGC		0.577	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		77	92	0	0	0	1	0	77	92				
FAP	2191	broad.mit.edu	37	2	163076364	163076364	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:163076364A>G	ENST00000188790.4	-	7	692	c.485T>C	c.(484-486)tTa>tCa	p.L162S	FAP_ENST00000443424.1_Splice_Site_p.L137S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.L162*(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AACACTTACTAATTTACTCCC	0.328																																						ENST00000188790.4																			1	Substitution - Nonsense(1)	p.L162*(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e7+1		fibroblast activation protein, alpha							45.0	47.0	47.0					2																	163076364		2199	4295	6494	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163076364A>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.486+1T>C	2.37:g.163076364A>G						FAP_ENST00000443424.1_Splice_Site_p.L137_splice	p.L162_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			7	692	-			162						Splice_Site	SNP	ENST00000188790.4	37	c.486_splice	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937662	0.73557	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T;T	0.97688	-4.49;0.98;1.23	6.06	6.06	0.98353	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.305337	0.31210	N	0.008046	D	0.98874	0.9619	M	0.90483	3.12	0.51482	D	0.999921	P;D;D	0.65815	0.875;0.995;0.995	P;D;D	0.67900	0.814;0.954;0.954	D	0.99647	1.0990	10	0.87932	D	0	-7.9917	16.6245	0.84952	1.0:0.0:0.0:0.0	.	137;162;162	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	S	162;137;141	ENSP00000188790:L162S;ENSP00000411391:L137S;ENSP00000400137:L141S	ENSP00000188790:L162S	L	-	2	0	FAP	162784610	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.881000	0.63114	2.323000	0.78572	0.528000	0.53228	TTA		0.328	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Missense_Mutation	8	20	0	0	0	1	0	8	20				
OR4C16	219428	broad.mit.edu	37	11	55339799	55339799	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55339799T>G	ENST00000314634.3	+	1	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTACTTATCCTTATCTGATAC	0.413																																						ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(196-198)Tta>Gta		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							273.0	248.0	257.0					11																	55339799		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339799T>G	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.196T>G	11.37:g.55339799T>G	ENSP00000324913:p.Leu66Val						p.L66V	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	196	+		all_epithelial(135;0.0748)	66					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.196T>G	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	T	8.736	0.917899	0.17982	.	.	ENSG00000181935	ENST00000314634	T	0.00557	6.62	4.98	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.393410	0.21514	N	0.073337	T	0.00608	0.0020	L	0.45744	1.44	0.09310	N	1	B	0.23490	0.086	B	0.26094	0.066	T	0.44997	-0.9291	10	0.66056	D	0.02	.	8.486	0.33071	0.0:0.0918:0.0:0.9082	.	66	Q8NGL9	OR4CG_HUMAN	V	66	ENSP00000324913:L66V	ENSP00000324913:L66V	L	+	1	2	OR4C16	55096375	0.000000	0.05858	0.346000	0.25655	0.596000	0.36781	-1.105000	0.03323	0.945000	0.37605	0.448000	0.29417	TTA		0.413	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		11	115	0	0	0	1	0	11	115				
SLC18A3	6572	broad.mit.edu	37	10	50819033	50819033	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50819033C>T	ENST00000374115.3	+	1	687	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	83					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACCCTGCCGCTGCCCAC	0.721																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(247-249)Ccg>Tcg		solute carrier family 18 (vesicular acetylcholine transporter), member 3							22.0	22.0	22.0					10																	50819033		2200	4298	6498	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819033C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.247C>T	10.37:g.50819033C>T	ENSP00000363229:p.Pro83Ser					CHAT_ENST00000339797.1_Intron	p.P83S	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	687	+			83					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.247C>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	C	4.737	0.137117	0.09032	.	.	ENSG00000187714	ENST00000374115	T	0.04119	3.7	4.42	3.5	0.40072	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.814548	0.10621	U	0.653334	T	0.01835	0.0058	N	0.01874	-0.695	0.24406	N	0.994682	B	0.02656	0.0	B	0.09377	0.004	T	0.39482	-0.9612	10	0.05436	T	0.98	-5.7674	8.9238	0.35628	0.1683:0.6692:0.1625:0.0	.	83	Q16572	VACHT_HUMAN	S	83	ENSP00000363229:P83S	ENSP00000363229:P83S	P	+	1	0	SLC18A3	50489039	0.002000	0.14202	0.843000	0.33291	0.953000	0.61014	1.698000	0.37794	1.061000	0.40601	0.561000	0.74099	CCG		0.721	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		11	26	0	0	0	1	0	11	26				
PRICKLE2	166336	broad.mit.edu	37	3	64085004	64085004	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:64085004G>A	ENST00000295902.6	-	8	2843	c.2258C>T	c.(2257-2259)tCg>tTg	p.S753L	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S809L|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	753					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGCCAGGTCCGACACAGTCCT	0.592																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2257-2259)tCg>tTg		prickle homolog 2 (Drosophila)							52.0	55.0	54.0					3																	64085004		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085004G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2258C>T	3.37:g.64085004G>A	ENSP00000295902:p.Ser753Leu					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S809L	p.S753L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2843	-		Lung NSC(201;0.136)	753					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2258C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.431043	0.62844	.	.	ENSG00000163637	ENST00000295902	D	0.87103	-2.21	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000007	D	0.86916	0.6048	M	0.68317	2.08	0.80722	D	1	B	0.26318	0.146	B	0.19148	0.024	D	0.84857	0.0817	10	0.87932	D	0	-12.2454	19.584	0.95484	0.0:0.0:1.0:0.0	.	753	Q7Z3G6	PRIC2_HUMAN	L	753	ENSP00000295902:S753L	ENSP00000295902:S753L	S	-	2	0	PRICKLE2	64060044	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.420000	0.97426	2.698000	0.92095	0.655000	0.94253	TCG		0.592	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		26	24	0	0	0	1	0	26	24				
ZNF10	7556	broad.mit.edu	37	12	133727724	133727724	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133727724G>T	ENST00000248211.6	+	3	366	c.144G>T	c.(142-144)aaG>aaT	p.K48N	CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.K48N|ZNF268_ENST00000416488.1_Missense_Mutation_p.K48N|ZNF10_ENST00000540927.1_3'UTR|ZNF10_ENST00000426665.2_Missense_Mutation_p.K48N|ZNF10_ENST00000402932.2_Missense_Mutation_p.K48N	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGAACTATAAGAACCTGGTTT	0.453																																						ENST00000248211.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(142-144)aaG>aaT		zinc finger protein 10							184.0	174.0	177.0					12																	133727724		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133727724G>T	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.144G>T	12.37:g.133727724G>T	ENSP00000248211:p.Lys48Asn					CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.K48N|ZNF10_ENST00000426665.2_Missense_Mutation_p.K48N|ZNF268_ENST00000416488.1_Missense_Mutation_p.K48N|ZNF10_ENST00000540927.1_3'UTR|ZNF10_ENST00000402932.2_Missense_Mutation_p.K48N	p.K48N	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	3	366	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	48			KRAB.		B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.144G>T	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600773	0.13939	.	.	ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000090612	ENST00000248211;ENST00000536877;ENST00000426665;ENST00000402932;ENST00000537119;ENST00000416488	T;T;T;T;T;T	0.01854	4.6;4.6;4.6;4.6;5.69;4.6	3.43	1.51	0.23008	Krueppel-associated box (4);	0.485974	0.15377	N	0.265506	T	0.01523	0.0049	N	0.20610	0.595	0.09310	N	0.999999	B	0.31413	0.322	B	0.28139	0.086	T	0.50329	-0.8841	9	.	.	.	.	6.289	0.21049	0.3524:0.0:0.6476:0.0	.	48	P21506	ZNF10_HUMAN	N	48;48;48;48;6;48	ENSP00000248211:K48N;ENSP00000441339:K48N;ENSP00000393814:K48N;ENSP00000384893:K48N;ENSP00000437397:K6N;ENSP00000409295:K48N	.	K	+	3	2	ZNF10;ZNF268	132237797	0.006000	0.16342	0.534000	0.28014	0.019000	0.09904	0.749000	0.26320	0.245000	0.21373	-0.251000	0.11542	AAG		0.453	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		17	40	1	0	3.32936e-07	1	3.80431e-07	17	40				
GPR155	151556	broad.mit.edu	37	2	175300922	175300922	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175300922A>C	ENST00000392552.2	-	16	2773	c.2535T>G	c.(2533-2535)atT>atG	p.I845M	GPR155_ENST00000392551.2_Missense_Mutation_p.I845M|GPR155_ENST00000459996.1_5'Flank|GPR155_ENST00000295500.4_Missense_Mutation_p.I845M	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	845					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGTTTGCATTAATAGCAGGAG	0.423																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(2533-2535)atT>atG		G protein-coupled receptor 155							123.0	131.0	128.0					2																	175300922		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175300922A>C	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2535T>G	2.37:g.175300922A>C	ENSP00000376335:p.Ile845Met					GPR155_ENST00000392551.2_Missense_Mutation_p.I845M|GPR155_ENST00000295500.4_Missense_Mutation_p.I845M	p.I845M	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN			16	2773	-			845					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.2535T>G	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466958	0.26335	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.13901	2.55;2.55;2.55	5.65	0.154	0.14901	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.072670	0.07137	N	0.846611	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40701	-0.9549	10	0.31617	T	0.26	0.8014	2.1998	0.03920	0.5947:0.1319:0.1464:0.1269	.	845	Q7Z3F1	GP155_HUMAN	M	845	ENSP00000376335:I845M;ENSP00000376334:I845M;ENSP00000295500:I845M	ENSP00000295500:I845M	I	-	3	3	GPR155	175009168	0.042000	0.20092	0.000000	0.03702	0.089000	0.18198	1.212000	0.32394	-0.123000	0.11745	-0.313000	0.08912	ATT		0.423	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		6	98	0	0	0	1	0	6	98				
MMAB	326625	broad.mit.edu	37	12	109994855	109994855	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:109994855G>A	ENST00000545712.2	-	9	1124	c.731C>T	c.(730-732)tCg>tTg	p.S244L	MMAB_ENST00000540016.1_Missense_Mutation_p.S192L|MMAB_ENST00000266839.5_Missense_Mutation_p.S153L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	244					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGACTCGGCCGATGGGTCATT	0.532																																						ENST00000545712.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(730-732)tCg>tTg		methylmalonic aciduria (cobalamin deficiency) cblB type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						110.0	95.0	100.0					12																	109994855		2203	4300	6503	SO:0001583	missense	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109994855G>A	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.731C>T	12.37:g.109994855G>A	ENSP00000445920:p.Ser244Leu					MMAB_ENST00000540016.1_Missense_Mutation_p.S192L|MMAB_ENST00000266839.5_Missense_Mutation_p.S153L	p.S244L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN			9	1124	-			244					C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	c.731C>T	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368300	0.24771	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.89552	-1.68;-2.53	4.62	0.397	0.16314	.	1.217880	0.06040	N	0.654683	T	0.82047	0.4952	L	0.44542	1.39	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.63752	-0.6566	10	0.44086	T	0.13	3.8071	0.863	0.01197	0.195:0.155:0.3593:0.2906	.	153;244;244	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	L	244;153	ENSP00000445920:S244L;ENSP00000266839:S153L	ENSP00000266839:S153L	S	-	2	0	MMAB	108479238	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.325000	0.07976	-0.126000	0.11682	-1.108000	0.02087	TCG		0.532	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			19	24	0	0	0	1	0	19	24				
PTCH1	5727	broad.mit.edu	37	9	98244436	98244436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:98244436C>A	ENST00000331920.6	-	4	933	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	PTCH1_ENST00000375274.2_Nonsense_Mutation_p.E211*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.E146*|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.E61*|PTCH1_ENST00000468211.2_Nonsense_Mutation_p.E146*|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.E146*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	212					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.E212fs*40(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TAACCTGTTTCTGTGATAAGC	0.363																																						ENST00000430669.2																			1	Insertion - Frameshift(1)	p.E212fs*40(1)	bone(1)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(436-438)Gaa>Taa		patched 1							108.0	104.0	105.0					9																	98244436		2203	4300	6503	SO:0001587	stop_gained	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98244436C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.634G>T	9.37:g.98244436C>A	ENSP00000332353:p.Glu212*					PTCH1_ENST00000418258.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.E211*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.E61*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.E146*|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000468211.2_Nonsense_Mutation_p.E146*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.E212*	p.E146*			Q13635	PTC1_HUMAN			4	1021	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	212					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	c.436G>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	38	6.782934	0.97833	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-22.0054	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	212;146;61;61;146;61;211;61;61;61;61;146;61	.	ENSP00000332353:E212X	E	-	1	0	PTCH1	97284257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.459000	0.80802	2.836000	0.97738	0.655000	0.94253	GAA		0.363	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		18	26	1	0	6.49762e-13	1	8.24929e-13	18	26				
KLHL15	80311	broad.mit.edu	37	X	24024277	24024277	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24024277C>A	ENST00000328046.8	-	3	789	c.534G>T	c.(532-534)gaG>gaT	p.E178D		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	178	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ACATGAGCTTCTCAAAGCTCA	0.478																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(532-534)gaG>gaT		kelch-like family member 15							140.0	111.0	121.0					X																	24024277		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24024277C>A	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.534G>T	X.37:g.24024277C>A	ENSP00000332791:p.Glu178Asp						p.E178D	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			3	789	-			178			BACK.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.534G>T	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181585	0.38511	.	.	ENSG00000174010	ENST00000328046	T	0.69685	-0.42	5.3	2.1	0.27182	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	N	0.20574	0.59	0.46798	D	0.999203	B	0.25563	0.129	B	0.26517	0.07	T	0.37641	-0.9697	10	0.40728	T	0.16	.	10.5513	0.45090	0.0:0.62:0.0:0.38	.	178	Q96M94	KLH15_HUMAN	D	178	ENSP00000332791:E178D	ENSP00000332791:E178D	E	-	3	2	KLHL15	23934198	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.996000	0.29719	0.443000	0.26582	-0.268000	0.10319	GAG		0.478	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		44	76	1	0	1.15183e-24	1	1.61878e-24	44	76				
CACNA1B	774	broad.mit.edu	37	9	141008837	141008837	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:141008837G>T	ENST00000371372.1	+	41	5689	c.5544G>T	c.(5542-5544)gaG>gaT	p.E1848D	CACNA1B_ENST00000277549.5_Missense_Mutation_p.E1042D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1848D|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1849D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1847D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1846D	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1848					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGCTGATGAGATGACAGTGG	0.512																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3124-3126)gaG>gaT		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						51.0	47.0	48.0					9																	141008837		1970	4158	6128	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141008837G>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5544G>T	9.37:g.141008837G>T	ENSP00000360423:p.Glu1848Asp					CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1848D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1846D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1848D|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1849D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1847D	p.E1042D			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	41	5695	+	all_cancers(76;0.166)		1848					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.3126G>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	2.666	-0.278564	0.05679	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.41961	1.31	0.80722	D	1	B;B	0.27013	0.166;0.166	B;B	0.37144	0.242;0.174	T	0.50083	-0.8869	10	0.08381	T	0.77	.	9.649	0.39886	0.1921:0.0:0.8079:0.0	.	1847;1846	B1AQK7;B1AQK6	.;.	D	1848;1848;1042;1846;1847;1849	ENSP00000360423:E1848D;ENSP00000277551:E1848D;ENSP00000277549:E1042D;ENSP00000360414:E1846D;ENSP00000360408:E1847D;ENSP00000360406:E1849D	ENSP00000277549:E1042D	E	+	3	2	CACNA1B	140128658	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	1.025000	0.30090	2.687000	0.91594	0.655000	0.94253	GAG		0.512	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		5	5	1	0	4.096e-09	1	4.90247e-09	5	5				
REEP5	7905	broad.mit.edu	37	5	112238187	112238187	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112238187C>A	ENST00000379638.4	-	3	589	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000545426.1_Nonsense_Mutation_p.E81*|REEP5_ENST00000513339.1_Nonsense_Mutation_p.E81*	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	81						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GTATCATCTTCTTTGTTGGGA	0.373																																						ENST00000379638.4																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(241-243)Gaa>Taa		receptor accessory protein 5							139.0	138.0	138.0					5																	112238187		2202	4300	6502	SO:0001587	stop_gained	7905					integral to membrane	protein binding	g.chr5:112238187C>A	BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"""Receptor accessory proteins"""	30077	protein-coding gene	gene with protein product	"""deleted in polyposis 1"", ""polyposis locus protein 1"", ""polyposis coli region hypothetical protein DP1"""	125265	"""chromosome 5 open reading frame 18"""	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.241G>T	5.37:g.112238187C>A	ENSP00000368959:p.Glu81*					REEP5_ENST00000545426.1_Nonsense_Mutation_p.E81*|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000513339.1_Nonsense_Mutation_p.E81*|REEP5_ENST00000504247.1_Intron	p.E81*	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)	3	589	-		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	81					B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Nonsense_Mutation	SNP	ENST00000379638.4	37	c.241G>T	CCDS4109.2	.	.	.	.	.	.	.	.	.	.	C	34	5.365995	0.95900	.	.	ENSG00000129625	ENST00000379638;ENST00000513339;ENST00000545426;ENST00000261482	.	.	.	5.73	5.73	0.89815	.	0.245025	0.46758	D	0.000263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-16.4334	19.9036	0.96999	0.0:1.0:0.0:0.0	.	.	.	.	X	81;81;81;72	.	ENSP00000261482:E72X	E	-	1	0	REEP5	112266086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.706000	0.92434	0.655000	0.94253	GAA		0.373	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250739.2	NM_005669		16	41	1	0	9.7654e-05	1	0.000105618	16	41				
UBR5	51366	broad.mit.edu	37	8	103298680	103298680	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:103298680G>A	ENST00000520539.1	-	38	5729	c.5123C>T	c.(5122-5124)gCc>gTc	p.A1708V	UBR5_ENST00000521922.1_Missense_Mutation_p.A1702V|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.A1708V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1708					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGGAGCTTGGGCAGCACCATT	0.522																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5122-5124)gCc>gTc		ubiquitin protein ligase E3 component n-recognin 5							162.0	141.0	148.0					8																	103298680		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103298680G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5123C>T	8.37:g.103298680G>A	ENSP00000429084:p.Ala1708Val					UBR5_ENST00000521922.1_Missense_Mutation_p.A1702V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1708V	p.A1708V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5729	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1708					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5123C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063680	0.76187	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45276	0.9;0.9;0.9	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.53844	-0.8381	10	0.54805	T	0.06	.	20.1754	0.98177	0.0:0.0:1.0:0.0	.	1702;1708	E7EMW7;O95071	.;UBR5_HUMAN	V	1708;1708;1702	ENSP00000429084:A1708V;ENSP00000220959:A1708V;ENSP00000427819:A1702V	ENSP00000220959:A1708V	A	-	2	0	UBR5	103367856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	GCC		0.522	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		31	35	0	0	0	1	0	31	35				
PELP1	27043	broad.mit.edu	37	17	4576196	4576196	+	Missense_Mutation	SNP	G	G	A	rs558960670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4576196G>A	ENST00000574876.1	-	16	2107	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	PELP1_ENST00000301396.4_Missense_Mutation_p.S841L|PELP1_ENST00000572293.1_Missense_Mutation_p.S747L|PELP1_ENST00000436683.2_Missense_Mutation_p.S550L|PELP1_ENST00000269230.7_Missense_Mutation_p.S607L|AC091153.4_ENST00000441700.2_RNA			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	697	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.S747L(2)|p.S841L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGGGCGTGCCGAGGGCACAGG	0.677																																						ENST00000301396.4																			3	Substitution - Missense(3)	p.S747L(2)|p.S841L(1)	endometrium(2)|breast(1)	breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(2521-2523)tCg>tTg		proline, glutamate and leucine rich protein 1							33.0	39.0	37.0					17																	4576196		1988	4143	6131	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4576196G>A		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2090C>T	17.37:g.4576196G>A	ENSP00000461625:p.Ser697Leu					PELP1_ENST00000269230.7_Missense_Mutation_p.S607L|PELP1_ENST00000572293.1_Missense_Mutation_p.S747L|PELP1_ENST00000436683.2_Missense_Mutation_p.S550L|PELP1_ENST00000574876.1_Missense_Mutation_p.S697L	p.S841L			Q8IZL8	PELP1_HUMAN			16	2747	-			697			Pro-rich.		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.2522C>T	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	6.848	0.525717	0.13066	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.54071	0.82;0.59;1.31	3.99	3.99	0.46301	.	0.532223	0.17115	N	0.186478	T	0.38480	0.1042	N	0.19112	0.55	0.09310	N	0.99999	B;B	0.25105	0.118;0.118	B;B	0.18561	0.022;0.022	T	0.39840	-0.9594	10	0.62326	D	0.03	-0.4355	14.4254	0.67212	0.0:0.0:1.0:0.0	.	550;697	E7EV54;Q8IZL8	.;PELP1_HUMAN	L	841;607;550	ENSP00000301396:S841L;ENSP00000269230:S607L;ENSP00000416231:S550L	ENSP00000269230:S607L	S	-	2	0	AC091153.1	4522945	0.003000	0.15002	0.047000	0.18901	0.093000	0.18481	1.174000	0.31932	2.514000	0.84764	0.655000	0.94253	TCG		0.677	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		25	37	0	0	0	1	0	25	37				
TTN	7273	broad.mit.edu	37	2	179407401	179407401	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179407401C>A	ENST00000591111.1	-	298	92481	c.92257G>T	c.(92257-92259)Gtt>Ttt	p.V30753F	TTN_ENST00000589042.1_Missense_Mutation_p.V32394F|TTN_ENST00000342992.6_Missense_Mutation_p.V29826F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23329F|TTN_ENST00000359218.5_Missense_Mutation_p.V23454F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23521F|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30753	Ig-like 138.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATGATAACTTTAATGGTT	0.338																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(97180-97182)Gtt>Ttt		titin							212.0	209.0	210.0					2																	179407401		1858	4098	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407401C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92257G>T	2.37:g.179407401C>A	ENSP00000465570:p.Val30753Phe					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23521F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23454F|TTN_ENST00000342992.6_Missense_Mutation_p.V29826F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23329F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V30753F	p.V32394F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		348	97404	-			30753			Protein kinase.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.97180G>T		.	.	.	.	.	.	.	.	.	.	C	15.60	2.882306	0.51908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.55	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70263	0.3204	M	0.90814	3.15	0.52099	D	0.999944	P;P;P;P	0.51147	0.942;0.942;0.942;0.942	P;P;P;P	0.57720	0.826;0.771;0.826;0.771	T	0.77902	-0.2414	9	0.87932	D	0	.	14.3956	0.67007	0.0:0.9292:0.0:0.0708	.	23329;23454;23521;30753	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	29826;23329;23521;23454;23326	ENSP00000343764:V29826F;ENSP00000434586:V23329F;ENSP00000340554:V23521F;ENSP00000352154:V23454F	ENSP00000340554:V23521F	V	-	1	0	TTN	179115647	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.985000	0.63845	1.352000	0.45808	0.655000	0.94253	GTT		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	94	1	0	3.7052e-28	1	5.25987e-28	46	94				
ZNF112	7771	broad.mit.edu	37	19	44833664	44833664	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44833664T>G	ENST00000337401.4	-	5	752	c.664A>C	c.(664-666)Aaa>Caa	p.K222Q	ZNF112_ENST00000354340.4_Missense_Mutation_p.K216Q|ZNF112_ENST00000536500.1_Missense_Mutation_p.K239Q	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	222				K -> E (in Ref. 1; AAF12816). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACTTCCAGTTTATCATTGTGA	0.368																																						ENST00000354340.4																			0											c.(646-648)Aaa>Caa		zinc finger protein 112							115.0	111.0	112.0					19																	44833664		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44833664T>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.664A>C	19.37:g.44833664T>G	ENSP00000337081:p.Lys222Gln					ZNF112_ENST00000536500.1_Missense_Mutation_p.K239Q|ZNF112_ENST00000337401.4_Missense_Mutation_p.K222Q	p.K216Q	NM_013380.3	NP_037512.3					4	697	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.646A>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	0.262	-0.999130	0.02128	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.05447	3.44;3.45;3.46	4.46	2.13	0.27403	.	0.440276	0.16671	N	0.204351	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B;B;B	0.19817	0.023;0.039;0.023	B;B;B	0.20384	0.013;0.029;0.013	T	0.46638	-0.9177	10	0.14252	T	0.57	-11.3289	10.435	0.44430	0.0:0.0:0.5453:0.4546	.	221;239;222	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	Q	222;222;216;239;221	ENSP00000337081:K222Q;ENSP00000346305:K216Q;ENSP00000441990:K239Q	ENSP00000253426:K221Q	K	-	1	0	ZNF285	49525504	0.003000	0.15002	0.001000	0.08648	0.056000	0.15407	0.959000	0.29240	0.822000	0.34565	0.459000	0.35465	AAA		0.368	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		25	59	0	0	0	1	0	25	59				
HTT	3064	broad.mit.edu	37	4	3231768	3231768	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3231768T>G	ENST00000355072.5	+	60	8409	c.8264T>G	c.(8263-8265)aTg>aGg	p.M2755R	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2755					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTCCTTGGGATGGTAAGTGAC	0.627																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.e60+1		huntingtin							64.0	65.0	65.0					4																	3231768		2119	4229	6348	SO:0001630	splice_region_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3231768T>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8265+1T>G	4.37:g.3231768T>G						HTT_ENST00000513806.1_3'UTR	p.M2755_splice	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	60	8409	+		all_epithelial(65;0.18)	2755					Q9UQB7	Splice_Site	SNP	ENST00000355072.5	37	c.8265_splice	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180157	0.57800	.	.	ENSG00000197386	ENST00000355072	T	0.05649	3.41	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	M	0.64997	1.995	0.80722	D	1	B	0.32939	0.391	B	0.27380	0.079	T	0.05131	-1.0904	10	0.59425	D	0.04	.	13.5409	0.61672	0.0:0.0:0.0:1.0	.	2755	P42858	HD_HUMAN	R	2755	ENSP00000347184:M2755R	ENSP00000347184:M2755R	M	+	2	0	HTT	3201566	1.000000	0.71417	0.995000	0.50966	0.863000	0.49368	7.326000	0.79133	1.985000	0.57927	0.533000	0.62120	ATG		0.627	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	Missense_Mutation	4	63	0	0	0	1	0	4	63				
PNLDC1	154197	broad.mit.edu	37	6	160240086	160240086	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160240086C>T	ENST00000610273.1	+	17	1504	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F	PNLDC1_ENST00000392167.3_Missense_Mutation_p.L456F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	445						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.L445I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTTTCAGAATCTCTGCAAGTT	0.517																																						ENST00000275275.5																			1	Substitution - Missense(1)	p.L445I(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1333-1335)Ctc>Ttc		poly(A)-specific ribonuclease (PARN)-like domain containing 1							103.0	99.0	101.0					6																	160240086		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160240086C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1333C>T	6.37:g.160240086C>T	ENSP00000476448:p.Leu445Phe					PNLDC1_ENST00000392167.3_Missense_Mutation_p.L456F	p.L445F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	17	1504	+		Breast(66;0.00519)|Ovarian(120;0.123)	445					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1333C>T	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	0.961	-0.703183	0.03255	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	4.57	2.78	0.32641	.	0.137105	0.31102	N	0.008250	T	0.12518	0.0304	L	0.27053	0.805	0.30955	N	0.724241	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.003	T	0.16600	-1.0397	9	0.25106	T	0.35	.	5.9447	0.19211	0.0:0.6722:0.158:0.1698	.	456;445	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	F	445;456	.	ENSP00000275275:L445F	L	+	1	0	PNLDC1	160160076	0.009000	0.17119	0.997000	0.53966	0.057000	0.15508	0.207000	0.17395	0.537000	0.28751	-0.379000	0.06801	CTC		0.517	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		31	52	0	0	0	1	0	31	52				
MMP12	4321	broad.mit.edu	37	11	102736613	102736613	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102736613T>G	ENST00000532855.1	-	0	1194							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GAATGTATGCTCTTGGGATAA	0.328																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						68.0	67.0	67.0					11																	102736613		1797	4059	5856			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102736613T>G	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102736613T>G										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1194	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.328	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		13	23	0	0	0	1	0	13	23				
CMYA5	202333	broad.mit.edu	37	5	79028508	79028508	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79028508C>A	ENST00000446378.2	+	2	3951	c.3920C>A	c.(3919-3921)tCc>tAc	p.S1307Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1307					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACATGATTCCAAAATAACA	0.393																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(3919-3921)tCc>tAc		cardiomyopathy associated 5							56.0	56.0	56.0					5																	79028508		1899	4109	6008	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79028508C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3920C>A	5.37:g.79028508C>A	ENSP00000394770:p.Ser1307Tyr						p.S1307Y	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	3951	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1307					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.3920C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015909	0.19355	.	.	ENSG00000164309	ENST00000446378	T	0.08193	3.12	5.61	4.66	0.58398	.	1.476830	0.04072	N	0.308124	T	0.31040	0.0784	M	0.62723	1.935	0.09310	N	1	D	0.71674	0.998	D	0.71656	0.974	T	0.36817	-0.9732	10	0.87932	D	0	.	14.4578	0.67428	0.157:0.843:0.0:0.0	.	1307	Q8N3K9	CMYA5_HUMAN	Y	1307	ENSP00000394770:S1307Y	ENSP00000394770:S1307Y	S	+	2	0	CMYA5	79064264	0.000000	0.05858	0.179000	0.23059	0.045000	0.14185	0.428000	0.21395	2.645000	0.89757	0.655000	0.94253	TCC		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		9	18	1	0	0.000673444	1	0.000709932	9	18				
GRIN3A	116443	broad.mit.edu	37	9	104357195	104357195	+	Intron	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104357195G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.N6N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AACTGGCCTCGTTTCCCATTG	0.592																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(16-18)aaC>aaT		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						41.0	45.0	44.0					9																	104357195		2199	4298	6497	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357195G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15553C>T	9.37:g.104357195G>A						GRIN3A_ENST00000361820.3_Intron	p.N6N	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	88	-		Acute lymphoblastic leukemia(62;0.0527)	3					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.18C>T	CCDS6758.1																																																																																				0.592	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			36	53	0	0	0	1	0	36	53				
SON	6651	broad.mit.edu	37	21	34948145	34948145	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34948145A>G	ENST00000356577.4	+	11	7642	c.7167A>G	c.(7165-7167)gaA>gaG	p.E2389E	SON_ENST00000290239.6_3'UTR|SON_ENST00000381692.2_Silent_p.E417E|DONSON_ENST00000303113.6_Intron|SON_ENST00000470533.1_3'UTR|AP000304.1_ENST00000595468.1_5'Flank	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2389	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACCACCTGAATTTCTATTGG	0.358																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(7165-7167)gaA>gaG		SON DNA binding protein							66.0	66.0	66.0					21																	34948145		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34948145A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.7167A>G	21.37:g.34948145A>G						SON_ENST00000470533.1_3'UTR|SON_ENST00000290239.6_3'UTR|DONSON_ENST00000303113.6_Intron|SON_ENST00000381692.2_Silent_p.E417E|AP000304.2_ENST00000439593.1_RNA	p.E2389E	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			11	7642	+			2389			DRBM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.7167A>G	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	2.110	-0.404070	0.04832	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.56	4.4	0.53042	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54268	-0.8319	4	.	.	.	.	7.6402	0.28290	0.7575:0.0:0.2425:0.0	.	.	.	.	S	1384	.	.	N	+	2	0	SON	33870015	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.936000	0.28938	0.945000	0.37605	0.528000	0.53228	AAT		0.358	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		18	18	0	0	0	1	0	18	18				
OR1S2	219958	broad.mit.edu	37	11	57971122	57971122	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57971122G>T	ENST00000302592.6	-	1	531	c.532C>A	c.(532-534)Caa>Aaa	p.Q178K		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAGAGCAATTGAATGAGCAGA	0.463																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(532-534)Caa>Aaa		olfactory receptor, family 1, subfamily S, member 2							259.0	244.0	249.0					11																	57971122		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971122G>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.532C>A	11.37:g.57971122G>T	ENSP00000305469:p.Gln178Lys						p.Q178K	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	531	-		Breast(21;0.0589)	178					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.532C>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696925	0.15106	.	.	ENSG00000197887	ENST00000302592	T	0.00063	8.78	4.47	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	1.046160	0.07660	N	0.933511	T	0.00178	0.0005	L	0.55481	1.735	0.09310	N	1	B	0.29232	0.238	B	0.27076	0.076	T	0.25433	-1.0132	10	0.56958	D	0.05	.	8.2602	0.31779	0.0:0.2835:0.4247:0.2917	.	178	Q8NGQ3	OR1S2_HUMAN	K	178	ENSP00000305469:Q178K	ENSP00000305469:Q178K	Q	-	1	0	OR1S2	57727698	0.000000	0.05858	0.000000	0.03702	0.304000	0.27724	0.097000	0.15168	0.203000	0.20529	0.655000	0.94253	CAA		0.463	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		20	235	1	0	2.48779e-11	1	3.09215e-11	20	235				
AMICA1	120425	broad.mit.edu	37	11	118068800	118068800	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118068800C>A	ENST00000356289.5	-	8	1091	c.918G>T	c.(916-918)gtG>gtT	p.V306V	AMICA1_ENST00000533261.1_Silent_p.V295V|AMICA1_ENST00000526620.1_Silent_p.V267V|AMICA1_ENST00000292067.7_Silent_p.V296V	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	306					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGTAGAATTCACTGAACTGC	0.443											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292067.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(886-888)gtG>gtT		adhesion molecule, interacts with CXADR antigen 1							153.0	139.0	144.0					11																	118068800		2200	4296	6496	SO:0001819	synonymous_variant	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118068800C>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.918G>T	11.37:g.118068800C>A			OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	AMICA1_ENST00000526620.1_Silent_p.V267V|AMICA1_ENST00000533261.1_Silent_p.V295V|AMICA1_ENST00000356289.5_Silent_p.V306V	p.V296V	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1329	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	306					B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	ENST00000356289.5	37	c.888G>T	CCDS41723.1																																																																																				0.443	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		29	55	1	0	7.26314e-15	1	9.49782e-15	29	55				
FREM1	158326	broad.mit.edu	37	9	14748461	14748461	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:14748461G>A	ENST00000380880.3	-	31	6517	c.5734C>T	c.(5734-5736)Cgg>Tgg	p.R1912W	FREM1_ENST00000422223.2_Missense_Mutation_p.R1912W|FREM1_ENST00000380881.4_Missense_Mutation_p.R1913W|FREM1_ENST00000380894.1_Missense_Mutation_p.R448W			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1912					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAAAGCCCCGCAGGGTGTCT	0.498																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(5737-5739)Cgg>Tgg		FRAS1 related extracellular matrix 1							68.0	69.0	68.0					9																	14748461		1837	4079	5916	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14748461G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5734C>T	9.37:g.14748461G>A	ENSP00000370262:p.Arg1912Trp					FREM1_ENST00000422223.2_Missense_Mutation_p.R1912W|FREM1_ENST00000380894.1_Missense_Mutation_p.R448W|FREM1_ENST00000380880.3_Missense_Mutation_p.R1912W	p.R1913W			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	32	6552	-			1912					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.5737C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	4.590	0.109597	0.08780	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.13778	2.81;2.81;2.56;2.81	5.8	2.87	0.33458	.	1.415490	0.03978	N	0.292843	T	0.13884	0.0336	L	0.36672	1.1	0.09310	N	1	B;D	0.63880	0.001;0.993	B;B	0.43123	0.0;0.409	T	0.19614	-1.0300	10	0.56958	D	0.05	0.2562	5.6075	0.17387	0.0703:0.261:0.5337:0.1349	.	1912;448	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	W	1913;1912;448;1912	ENSP00000370263:R1913W;ENSP00000412940:R1912W;ENSP00000370278:R448W;ENSP00000370262:R1912W	ENSP00000370262:R1912W	R	-	1	2	FREM1	14738461	0.002000	0.14202	0.000000	0.03702	0.168000	0.22595	1.204000	0.32296	0.327000	0.23409	-0.244000	0.11960	CGG		0.498	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		28	54	0	0	0	1	0	28	54				
RSBN1L	222194	broad.mit.edu	37	7	77378805	77378805	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77378805G>T	ENST00000334955.8	+	3	795	c.768G>T	c.(766-768)aaG>aaT	p.K256N	RSBN1L_ENST00000445288.1_5'UTR	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	256	Lys-rich.					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						AGAAGAAAAAGAAAAAGAAAC	0.323																																						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.(766-768)aaG>aaT		round spermatid basic protein 1-like							40.0	37.0	38.0					7																	77378805		1811	4067	5878	SO:0001583	missense	222194					nucleus		g.chr7:77378805G>T	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.768G>T	7.37:g.77378805G>T	ENSP00000334040:p.Lys256Asn					RSBN1L_ENST00000445288.1_5'UTR	p.K256N	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN			3	795	+			256			Lys-rich.		C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.768G>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451459	0.84209	.	.	ENSG00000187257	ENST00000334955	T	0.08807	3.05	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00105	-1.2056	10	0.72032	D	0.01	-17.2433	20.0036	0.97427	0.0:0.0:1.0:0.0	.	256	Q6PCB5	RSBNL_HUMAN	N	256	ENSP00000334040:K256N	ENSP00000334040:K256N	K	+	3	2	RSBN1L	77216741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.824000	0.97209	0.655000	0.94253	AAG		0.323	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		11	17	1	0	6.40141e-05	1	6.95424e-05	11	17				
VAC14	55697	broad.mit.edu	37	16	70817355	70817355	+	Missense_Mutation	SNP	G	G	A	rs184943022		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:70817355G>A	ENST00000261776.5	-	6	957	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	233					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.R233C(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CACATTTTGCGAATCTCTTTG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20851	0.0		0.0	False		,,,				2504	0.0					ENST00000261776.5																			1	Substitution - Missense(1)	p.R233C(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(697-699)Cgc>Tgc		Vac14 homolog (S. cerevisiae)							69.0	68.0	69.0					16																	70817355		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70817355G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.697C>T	16.37:g.70817355G>A	ENSP00000261776:p.Arg233Cys						p.R233C	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			6	957	-		Ovarian(137;0.0699)	233					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.697C>T	CCDS10896.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.85	3.489656	0.64074	.	.	ENSG00000103043	ENST00000261776	T	0.77620	-1.11	5.75	4.8	0.61643	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88220	0.6378	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.89279	0.3610	10	0.87932	D	0	-24.735	9.7174	0.40283	0.0701:0.0:0.7903:0.1396	.	233	Q08AM6	VAC14_HUMAN	C	233	ENSP00000261776:R233C	ENSP00000261776:R233C	R	-	1	0	VAC14	69374856	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	3.317000	0.51968	1.444000	0.47605	0.655000	0.94253	CGC		0.587	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		22	40	0	0	0	1	0	22	40				
LAP3	51056	broad.mit.edu	37	4	17586709	17586709	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17586709T>G	ENST00000226299.4	+	6	928	c.654T>G	c.(652-654)atT>atG	p.I218M	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.I187M	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	218					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TTGCTGAAATTATTGAGAAGA	0.473																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(652-654)atT>atG		leucine aminopeptidase 3							105.0	104.0	105.0					4																	17586709		2203	4300	6503	SO:0001583	missense	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17586709T>G	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.654T>G	4.37:g.17586709T>G	ENSP00000226299:p.Ile218Met					LAP3_ENST00000606142.1_Missense_Mutation_p.I187M	p.I218M	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN			6	928	+			218					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.654T>G	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496490	0.26861	.	.	ENSG00000002549	ENST00000226299;ENST00000513105	T;T	0.44482	0.92;0.93	5.2	-10.4	0.00318	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.238733	0.47455	D	0.000223	T	0.46229	0.1382	L	0.55103	1.725	0.09310	N	0.999999	B	0.24483	0.104	P	0.52598	0.703	T	0.61282	-0.7094	10	0.34782	T	0.22	-17.9114	9.4697	0.38835	0.261:0.5014:0.0:0.2375	.	218	P28838	AMPL_HUMAN	M	218;52	ENSP00000226299:I218M;ENSP00000424724:I52M	ENSP00000226299:I218M	I	+	3	3	LAP3	17195807	0.000000	0.05858	0.011000	0.14972	0.867000	0.49689	-3.190000	0.00565	-2.024000	0.00936	-0.496000	0.04628	ATT		0.473	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			4	106	0	0	0	1	0	4	106				
TPR	7175	broad.mit.edu	37	1	186321228	186321228	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186321228A>C	ENST00000367478.4	-	19	2645	c.2349T>G	c.(2347-2349)aaT>aaG	p.N783K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	783					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTTCTTCAAATTTTCTGCTC	0.308			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(2347-2349)aaT>aaG		translocated promoter region, nuclear basket protein							87.0	82.0	84.0					1																	186321228		1805	4073	5878	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186321228A>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2349T>G	1.37:g.186321228A>C	ENSP00000356448:p.Asn783Lys					TPR_ENST00000474852.1_5'UTR	p.N783K	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	19	2645	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	783					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.2349T>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750948	0.49257	.	.	ENSG00000047410	ENST00000367478	T	0.32988	1.43	5.75	3.47	0.39725	.	0.140114	0.64402	D	0.000005	T	0.28699	0.0711	M	0.62723	1.935	0.40840	D	0.983665	P	0.46395	0.877	B	0.40636	0.335	T	0.09037	-1.0693	10	0.52906	T	0.07	.	7.4405	0.27181	0.7091:0.0:0.2909:0.0	.	783	P12270	TPR_HUMAN	K	783	ENSP00000356448:N783K	ENSP00000356448:N783K	N	-	3	2	TPR	184587851	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.914000	0.28624	1.012000	0.39366	0.460000	0.39030	AAT		0.308	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		6	44	0	0	0	1	0	6	44				
TNNT1	7138	broad.mit.edu	37	19	55649407	55649407	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55649407C>A	ENST00000588981.1	-	10	627	c.423G>T	c.(421-423)aaG>aaT	p.K141N	TNNT1_ENST00000585321.2_Missense_Mutation_p.K71N|TNNT1_ENST00000587758.1_Missense_Mutation_p.K130N|TNNT1_ENST00000588426.1_Missense_Mutation_p.K38N|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587465.2_Missense_Mutation_p.K71N|TNNT1_ENST00000291901.8_Missense_Mutation_p.K141N|TNNT1_ENST00000356783.5_Missense_Mutation_p.K130N|TNNT1_ENST00000536926.1_Missense_Mutation_p.K130N	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	141					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTGCCCGCTTCTTGGCCTCTT	0.572																																						ENST00000588981.1																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(421-423)aaG>aaT		troponin T type 1 (skeletal, slow)							200.0	173.0	182.0					19																	55649407		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55649407C>A		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.423G>T	19.37:g.55649407C>A	ENSP00000467176:p.Lys141Asn					TNNT1_ENST00000585321.2_Missense_Mutation_p.K71N|TNNT1_ENST00000291901.8_Missense_Mutation_p.K141N|TNNT1_ENST00000588426.1_Missense_Mutation_p.K38N|TNNT1_ENST00000356783.5_Missense_Mutation_p.K130N|TNNT1_ENST00000536926.1_Missense_Mutation_p.K130N|TNNT1_ENST00000587465.2_Missense_Mutation_p.K71N|TNNT1_ENST00000587758.1_Missense_Mutation_p.K130N|TNNT1_ENST00000592920.1_5'UTR	p.K141N	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	10	627	-			141					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.423G>T	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713682	0.68730	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693;ENST00000429737	D;D;D	0.94046	-3.34;-3.34;-3.34	4.37	3.32	0.38043	.	0.124974	0.52532	D	0.000067	D	0.96084	0.8724	M	0.88241	2.94	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.996;0.993;0.993;0.999;0.993	D;P;P;D;P	0.67382	0.951;0.773;0.857;0.926;0.773	D	0.95123	0.8248	10	0.87932	D	0	-20.1333	7.0255	0.24938	0.0:0.7881:0.0:0.2118	.	141;130;141;141;130	Q56R94;P13805-2;P13805-3;P13805;F5H1H4	.;.;.;TNNT1_HUMAN;.	N	141;130;130;71;156	ENSP00000291901:K141N;ENSP00000349233:K130N;ENSP00000439640:K130N	ENSP00000291901:K141N	K	-	3	2	TNNT1	60341219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.214000	0.42853	0.965000	0.38133	0.484000	0.47621	AAG		0.572	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		13	98	1	0	7.93312e-07	1	8.98086e-07	13	98				
DST	667	broad.mit.edu	37	6	56485398	56485398	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56485398C>A	ENST00000370765.6	-	23	3541	c.3434G>T	c.(3433-3435)aGa>aTa	p.R1145I	DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTACCATTCTTTCCAACTC	0.433																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3433-3435)aGa>aTa		dystonin							179.0	172.0	175.0					6																	56485398		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56485398C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3434G>T	6.37:g.56485398C>A	ENSP00000359801:p.Arg1145Ile					DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	p.R1145I	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	3541	-	Lung NSC(77;0.103)		1476					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.3434G>T	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	3.298	-0.143568	0.06627	.	.	ENSG00000151914	ENST00000370765	T	0.23147	1.92	4.64	-7.48	0.01360	.	.	.	.	.	T	0.04815	0.0130	.	.	.	0.09310	N	0.999995	B	0.12013	0.005	B	0.13407	0.009	T	0.37103	-0.9720	7	0.34782	T	0.22	.	9.1383	0.36888	0.0:0.4603:0.2132:0.3265	.	1145	Q03001-3	.	I	1145	ENSP00000359801:R1145I	ENSP00000359801:R1145I	R	-	2	0	DST	56593357	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.224000	0.09164	-1.417000	0.02017	-0.384000	0.06662	AGA		0.433	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		42	88	1	0	1.59932e-28	1	2.27211e-28	42	88				
SCRN3	79634	broad.mit.edu	37	2	175265748	175265748	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175265748A>G	ENST00000272732.6	+	4	454	c.372A>G	c.(370-372)gaA>gaG	p.E124E	SCRN3_ENST00000409673.3_Silent_p.E117E	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	124							dipeptidase activity (GO:0016805)	p.E124D(1)|p.E117D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATACAGCTGAAAAAGCCCTCA	0.323																																						ENST00000272732.6																			2	Substitution - Missense(2)	p.E124D(1)|p.E117D(1)	lung(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(370-372)gaA>gaG		secernin 3							39.0	40.0	40.0					2																	175265748		2203	4300	6503	SO:0001819	synonymous_variant	79634				proteolysis		dipeptidase activity	g.chr2:175265748A>G	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.372A>G	2.37:g.175265748A>G						SCRN3_ENST00000409673.3_Silent_p.E117E	p.E124E	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		4	454	+			124					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Silent	SNP	ENST00000272732.6	37	c.372A>G	CCDS2258.1																																																																																				0.323	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		17	16	0	0	0	1	0	17	16				
MYO10	4651	broad.mit.edu	37	5	16701878	16701878	+	Missense_Mutation	SNP	G	G	A	rs540391150		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:16701878G>A	ENST00000513610.1	-	25	3080	c.2626C>T	c.(2626-2628)Cgt>Tgt	p.R876C	MYO10_ENST00000505695.1_Missense_Mutation_p.R215C|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000427430.2_Missense_Mutation_p.R233C|MYO10_ENST00000274203.9_Missense_Mutation_p.R233C|MYO10_ENST00000515803.1_Missense_Mutation_p.R215C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	876					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAGTTCACGGGTCAGTTCA	0.507																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2626-2628)Cgt>Tgt		myosin X							54.0	54.0	54.0					5																	16701878		1964	4161	6125	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701878G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2626C>T	5.37:g.16701878G>A	ENSP00000421280:p.Arg876Cys					MYO10_ENST00000427430.2_Missense_Mutation_p.R233C|MYO10_ENST00000505695.1_Missense_Mutation_p.R215C|MYO10_ENST00000274203.9_Missense_Mutation_p.R233C|MYO10_ENST00000515803.1_Missense_Mutation_p.R215C	p.R876C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			25	3080	-			876					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.2626C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043358	0.19748	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.0	2.17	0.27698	.	.	.	.	.	T	0.04318	0.0119	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41342	-0.9514	9	0.33141	T	0.24	.	5.9175	0.19063	0.1442:0.0:0.5918:0.264	.	517;876	Q69YP8;Q9HD67	.;MYO10_HUMAN	C	876;215;233;215;233	ENSP00000421280:R876C;ENSP00000425051:R215C;ENSP00000274203:R233C;ENSP00000421170:R215C;ENSP00000391106:R233C	ENSP00000274203:R233C	R	-	1	0	MYO10	16754878	0.042000	0.20092	0.106000	0.21319	0.825000	0.46686	1.447000	0.35101	0.490000	0.27771	0.563000	0.77884	CGT		0.507	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		15	30	0	0	0	1	0	15	30				
TRPC1	7220	broad.mit.edu	37	3	142503722	142503722	+	Silent	SNP	C	C	A	rs367550915		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142503722C>A	ENST00000476941.1	+	7	1623	c.1137C>A	c.(1135-1137)atC>atA	p.I379I	TRPC1_ENST00000273482.6_Silent_p.I345I	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	379					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTGGCAGAATCATTCACACAC	0.358																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(1033-1035)atC>atA		transient receptor potential cation channel, subfamily C, member 1							146.0	136.0	139.0					3																	142503722		2203	4300	6503	SO:0001819	synonymous_variant	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142503722C>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1137C>A	3.37:g.142503722C>A						TRPC1_ENST00000476941.1_Silent_p.I379I	p.I345I	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			6	1426	+			379					Q14CE4	Silent	SNP	ENST00000476941.1	37	c.1035C>A	CCDS58856.1																																																																																				0.358	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		4	27	1	0	0.150653	1	0.151842	4	27				
CLRN1	7401	broad.mit.edu	37	3	150659462	150659462	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:150659462C>T	ENST00000327047.1	-	2	630	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	CLRN1_ENST00000328863.4_Missense_Mutation_p.V114M|CLRN1_ENST00000295911.2_Missense_Mutation_p.V38M|CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.3_ENST00000569170.1_Nonsense_Mutation_p.W23*|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	114					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCTGTCCCCACCATGGTTAAC	0.428																																						ENST00000569170.1																			0											c.(67-69)tgG>tgA									124.0	113.0	117.0					3																	150659462		2203	4300	6503	SO:0001583	missense	0							g.chr3:150659462C>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.340G>A	3.37:g.150659462C>T	ENSP00000322280:p.Val114Met					CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000295911.2_Missense_Mutation_p.V38M|CLRN1_ENST00000327047.1_Missense_Mutation_p.V114M|CLRN1_ENST00000328863.4_Missense_Mutation_p.V114M|RP11-166N6.2_ENST00000469268.1_RNA	p.W23*							1	68	-								D3DNJ3|E1ACU9|Q8N6A9	Nonsense_Mutation	SNP	ENST00000327047.1	37	c.69G>A	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506730	0.44558	.	.	ENSG00000163646	ENST00000295911;ENST00000327047;ENST00000328863;ENST00000468836;ENST00000485607	T;T;T;T;T	0.81163	-1.44;-1.44;-1.44;-1.44;-1.46	5.1	4.23	0.50019	.	0.253714	0.38720	N	0.001585	D	0.84220	0.5424	M	0.66939	2.045	0.50313	D	0.99986	P;D	0.57571	0.782;0.98	P;P	0.55965	0.521;0.788	D	0.85126	0.0972	10	0.87932	D	0	-15.8493	9.8067	0.40797	0.141:0.7861:0.0:0.0729	.	114;38	P58418;P58418-1	CLRN1_HUMAN;.	M	38;114;114;38;2	ENSP00000295911:V38M;ENSP00000322280:V114M;ENSP00000329158:V114M;ENSP00000419892:V38M;ENSP00000419244:V2M	ENSP00000295911:V38M	V	-	1	0	CLRN1	152142152	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.847000	0.39299	1.283000	0.44513	-0.127000	0.14921	GTG		0.428	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			10	22	0	0	0	1	0	10	22				
KANSL3	55683	broad.mit.edu	37	2	97279270	97279270	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97279270C>A	ENST00000431828.1	-	6	826	c.750G>T	c.(748-750)aaG>aaT	p.K250N	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000599854.1_Missense_Mutation_p.K163N|KANSL3_ENST00000441706.2_Missense_Mutation_p.K163N|KANSL3_ENST00000440133.1_Missense_Mutation_p.K44N			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	250					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CCCAGGGCCTCTTCAGTAGGA	0.473																																						ENST00000599854.1																			0											c.(487-489)aaG>aaT		KAT8 regulatory NSL complex subunit 3							99.0	102.0	101.0					2																	97279270		1926	4137	6063	SO:0001583	missense	55683							g.chr2:97279270C>A	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.750G>T	2.37:g.97279270C>A	ENSP00000396749:p.Lys250Asn					KANSL3_ENST00000441706.2_Missense_Mutation_p.K163N|KANSL3_ENST00000431828.1_Missense_Mutation_p.K250N|KANSL3_ENST00000440133.1_Missense_Mutation_p.K44N|KANSL3_ENST00000487070.1_5'UTR	p.K163N	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			6	956	-			250					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.489G>T	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961073	0.74016	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268;ENST00000448075;ENST00000418735	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.65	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.56217	0.1970	L	0.53617	1.68	0.80722	D	1	P;D;P;D	0.76494	0.911;0.999;0.946;0.999	B;D;P;D	0.83275	0.32;0.996;0.519;0.996	T	0.57063	-0.7875	10	0.54805	T	0.06	.	10.8045	0.46509	0.0:0.8187:0.0:0.1813	.	44;250;163;138	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	N	163;138;250;163;44;44;163;44;44	ENSP00000396749:K250N;ENSP00000400678:K163N;ENSP00000406207:K44N;ENSP00000405988:K44N	ENSP00000346144:K163N	K	-	3	2	KIAA1310	96642997	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.476000	0.45171	1.387000	0.46486	0.467000	0.42956	AAG		0.473	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		49	88	1	0	6.31075e-24	1	8.8404e-24	49	88				
DIDO1	11083	broad.mit.edu	37	20	61527689	61527689	+	Missense_Mutation	SNP	G	G	T	rs368023217		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61527689G>T	ENST00000266070.4	-	8	2435	c.2110C>A	c.(2110-2112)Ctc>Atc	p.L704I	DIDO1_ENST00000395343.1_Missense_Mutation_p.L704I|DIDO1_ENST00000395335.2_Missense_Mutation_p.L704I|DIDO1_ENST00000395340.1_Missense_Mutation_p.L704I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	704	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCAATATGGAGGGCAATTTTT	0.353																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2110-2112)Ctc>Atc		death inducer-obliterator 1							121.0	110.0	114.0					20																	61527689		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61527689G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2110C>A	20.37:g.61527689G>T	ENSP00000266070:p.Leu704Ile					DIDO1_ENST00000395335.2_Missense_Mutation_p.L704I|DIDO1_ENST00000395340.1_Missense_Mutation_p.L704I|DIDO1_ENST00000395343.1_Missense_Mutation_p.L704I	p.L704I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			8	2435	-	Breast(26;5.68e-08)		704			TFIIS central.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.2110C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103880	0.56291	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.76	3.83	0.44106	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.37483	N	0.002079	T	0.26810	0.0656	N	0.12887	0.27	0.09310	N	0.999997	P;P	0.49185	0.617;0.92	B;P	0.45712	0.242;0.491	T	0.05533	-1.0879	10	0.44086	T	0.13	-36.7066	7.4459	0.27211	0.1374:0.0:0.7284:0.1343	.	704;704	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	I	704	ENSP00000266070:L704I;ENSP00000378752:L704I;ENSP00000378749:L704I;ENSP00000378744:L704I	ENSP00000266070:L704I	L	-	1	0	DIDO1	60998134	0.838000	0.29461	0.968000	0.41197	0.891000	0.51852	1.624000	0.37018	0.792000	0.33850	0.655000	0.94253	CTC		0.353	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		20	34	1	0	1.56452e-12	1	1.97515e-12	20	34				
TESK2	10420	broad.mit.edu	37	1	45811195	45811195	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45811195T>G	ENST00000372086.3	-	11	1433	c.1033A>C	c.(1033-1035)Agc>Cgc	p.S345R	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.S316R|TESK2_ENST00000538496.1_Missense_Mutation_p.S262R|TESK2_ENST00000341771.6_Missense_Mutation_p.S316R	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	345					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCCAGTGAGCTTAGTCGCTTC	0.488																																						ENST00000372086.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1033-1035)Agc>Cgc		testis-specific kinase 2							60.0	62.0	61.0					1																	45811195		1993	4174	6167	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45811195T>G	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1033A>C	1.37:g.45811195T>G	ENSP00000361158:p.Ser345Arg					TESK2_ENST00000538496.1_Missense_Mutation_p.S262R|TESK2_ENST00000341771.6_Missense_Mutation_p.S316R|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.S316R	p.S345R	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN			11	1433	-	Acute lymphoblastic leukemia(166;0.155)		345					Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.1033A>C	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.345312	0.41498	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.75704	-0.79;-0.68;-0.79;-0.96	6.08	6.08	0.98989	Protein kinase-like domain (1);	0.127791	0.56097	N	0.000032	T	0.64472	0.2601	L	0.29908	0.895	0.80722	D	1	B;B	0.23990	0.095;0.047	B;B	0.23574	0.047;0.021	T	0.59773	-0.7391	10	0.18276	T	0.48	-8.7664	16.6438	0.85155	0.0:0.0:0.0:1.0	.	316;345	Q96S53-3;Q96S53	.;TESK2_HUMAN	R	316;345;329;316;262	ENSP00000361156:S316R;ENSP00000361158:S345R;ENSP00000343940:S316R;ENSP00000441746:S262R	ENSP00000343940:S316R	S	-	1	0	TESK2	45583782	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.833000	0.48159	2.333000	0.79357	0.533000	0.62120	AGC		0.488	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		22	30	0	0	0	1	0	22	30				
MAGEC3	139081	broad.mit.edu	37	X	140984575	140984575	+	Intron	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140984575C>T	ENST00000298296.1	+	7	1123				MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000536088.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000544766.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S46F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					tcctcttcctctttccacttt	0.512																																						ENST00000544766.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(136-138)tCt>tTt		melanoma antigen family C, 3							130.0	85.0	100.0					X																	140984575		2203	4300	6503	SO:0001627	intron_variant	139081							g.chrX:140984575C>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1124-93C>T	X.37:g.140984575C>T						MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000536088.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron	p.S46F	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN			5	664	+	Acute lymphoblastic leukemia(192;6.56e-05)		440					Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.137C>T	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	c	7.492	0.650916	0.14516	.	.	ENSG00000165509	ENST00000536088;ENST00000544766;ENST00000409007	T;T;T	0.06068	3.35;3.35;3.35	1.32	1.32	0.21799	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.09310	N	0.999999	D	0.64830	0.994	D	0.67725	0.953	T	0.09058	-1.0692	8	0.49607	T	0.09	.	5.5095	0.16872	0.0:1.0:0.0:0.0	.	46	Q3SYA7	.	F	46	ENSP00000441107:S46F;ENSP00000440444:S46F;ENSP00000386566:S46F	ENSP00000386566:S46F	S	+	2	0	MAGEC3	140812241	0.000000	0.05858	0.007000	0.13788	0.016000	0.09150	-0.173000	0.09854	0.922000	0.37019	0.363000	0.22086	TCT		0.512	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		27	48	0	0	0	1	0	27	48				
LRP12	29967	broad.mit.edu	37	8	105509413	105509413	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:105509413A>G	ENST00000276654.5	-	5	1475	c.1367T>C	c.(1366-1368)tTc>tCc	p.F456S	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.F437S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	456	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTACAATGGAAATTTCCTGG	0.413																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1366-1368)tTc>tCc		low density lipoprotein receptor-related protein 12							104.0	98.0	100.0					8																	105509413		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509413A>G	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1367T>C	8.37:g.105509413A>G	ENSP00000276654:p.Phe456Ser					LRP12_ENST00000424843.2_Missense_Mutation_p.F437S	p.F456S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1475	-			456			LDL-receptor class A 5.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1367T>C	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.206968	0.79127	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.98926	-5.24;-5.24;-5.24	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.96943	3.91	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.991;0.995	D	0.98272	1.0504	10	0.87932	D	0	-26.858	16.1444	0.81555	1.0:0.0:0.0:0.0	.	437;456	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	S	437;456;45	ENSP00000399148:F437S;ENSP00000276654:F456S;ENSP00000429305:F45S	ENSP00000276654:F456S	F	-	2	0	LRP12	105578589	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.306000	0.78905	2.223000	0.72356	0.455000	0.32223	TTC		0.413	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		32	53	0	0	0	1	0	32	53				
TMEM52B	120939	broad.mit.edu	37	12	10332194	10332194	+	Silent	SNP	C	C	T	rs535551759		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10332194C>T	ENST00000381923.2	+	2	425	c.21C>T	c.(19-21)gtC>gtT	p.V7V	TMEM52B_ENST00000536952.1_Silent_p.V7V|TMEM52B_ENST00000298530.3_Missense_Mutation_p.S2L			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	7						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S2L(1)									GAGTTCATGTCGTGGCGGCCT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		17909	0.0		0.0	False		,,,				2504	0.001					ENST00000298530.3																			1	Substitution - Missense(1)	p.S2L(1)	large_intestine(1)								c.(4-6)tCg>tTg		transmembrane protein 52B							187.0	176.0	179.0					12																	10332194		2203	4300	6503	SO:0001819	synonymous_variant	120939							g.chr12:10332194C>T	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.21C>T	12.37:g.10332194C>T						TMEM52B_ENST00000381923.2_Silent_p.V7V|TMEM52B_ENST00000536952.1_Silent_p.V7V	p.S2L	NM_153022.2	NP_694567.1					1	583	+								Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37	c.5C>T		.	.	.	.	.	.	.	.	.	.	C	13.43	2.234019	0.39498	.	.	ENSG00000165685	ENST00000298530	.	.	.	5.13	-3.3	0.05003	.	.	.	.	.	T	0.23289	0.0563	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30851	-0.9964	7	0.87932	D	0	-1.0273	0.3384	0.00329	0.2688:0.2308:0.1405:0.3599	.	2	Q4KMG9-2	.	L	2	.	ENSP00000298530:S2L	S	+	2	0	C12orf59	10223461	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.674000	0.05233	-0.464000	0.06963	0.650000	0.86243	TCG		0.478	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		57	151	0	0	0	1	0	57	151				
OOSP2	219990	broad.mit.edu	37	11	59811081	59811081	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59811081G>A	ENST00000278855.2	+	2	389	c.204G>A	c.(202-204)gaG>gaA	p.E68E	PLAC1L_ENST00000532905.1_Silent_p.E37E	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		68						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATGTATATGAGTTTATATATC	0.368																																						ENST00000278855.2																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(202-204)gaG>gaA									89.0	86.0	87.0					11																	59811081		2201	4295	6496	SO:0001819	synonymous_variant	0					extracellular region		g.chr11:59811081G>A																												ENST00000278855.2:c.204G>A	11.37:g.59811081G>A						PLAC1L_ENST00000532905.1_Silent_p.E37E	p.E68E	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN			2	389	+			68					E9PJA4|Q8N9U6	Silent	SNP	ENST00000278855.2	37	c.204G>A	CCDS7979.1																																																																																				0.368	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			6	31	0	0	0	1	0	6	31				
UGT2B11	10720	broad.mit.edu	37	4	70080254	70080254	+	Missense_Mutation	SNP	G	G	T	rs201055366	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:70080254G>T	ENST00000446444.1	-	1	195	c.187C>A	c.(187-189)Ctt>Att	p.L63I	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	63					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGATCAAAAAGAATGGAAGCT	0.388													.|||	3	0.000599042	0.0	0.0	5008	,	,		19263	0.0		0.003	False		,,,				2504	0.0					ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(187-189)Ctt>Att		UDP glucuronosyltransferase 2 family, polypeptide B11		G	ILE/LEU	0,4394		0,0,2197	59.0	68.0	65.0		187	1.0	0.7	4		65	7,8533		0,7,4263	no	missense	UGT2B11	NM_001073.1	5	0,7,6460	TT,TG,GG		0.082,0.0,0.0541	benign	63/530	70080254	7,12927	2197	4270	6467	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080254G>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.187C>A	4.37:g.70080254G>T	ENSP00000387683:p.Leu63Ile					RP11-704M14.1_ENST00000505646.1_RNA	p.L63I	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			1	195	-			63					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.187C>A	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	3.079	-0.189381	0.06299	0.0	8.2E-4	ENSG00000213759	ENST00000446444	T	0.60299	0.2	1.96	1.05	0.20165	.	0.107986	0.36167	U	0.002758	T	0.46737	0.1408	L	0.54965	1.715	0.19300	N	0.999976	B	0.18863	0.031	B	0.23852	0.049	T	0.39014	-0.9634	10	0.42905	T	0.14	.	6.0646	0.19856	0.1896:0.0:0.8104:0.0	.	63	O75310	UDB11_HUMAN	I	63	ENSP00000387683:L63I	ENSP00000387683:L63I	L	-	1	0	UGT2B11	70114843	0.000000	0.05858	0.663000	0.29738	0.237000	0.25408	-0.538000	0.06120	1.087000	0.41251	0.184000	0.17185	CTT		0.388	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		28	145	1	0	4.74835e-14	1	6.14782e-14	28	145				
MCM3	4172	broad.mit.edu	37	6	52138700	52138700	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:52138700C>T	ENST00000229854.7	-	10	1465	c.1389G>A	c.(1387-1389)aaG>aaA	p.K463K	MCM3_ENST00000596288.1_Silent_p.K508K|MCM3_ENST00000419835.2_Silent_p.K417K|MCM3_ENST00000476448.1_5'Flank			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	463	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCATTGGAGTCTTATACTGGT	0.483																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1522-1524)aaG>aaA		minichromosome maintenance complex component 3							125.0	96.0	106.0					6																	52138700		2203	4300	6503	SO:0001819	synonymous_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52138700C>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1389G>A	6.37:g.52138700C>T						MCM3_ENST00000419835.2_Silent_p.K417K|MCM3_ENST00000229854.7_Silent_p.K463K	p.K508K	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			10	1551	-	Lung NSC(77;0.0931)		463					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.1524G>A																																																																																					0.483	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			20	41	0	0	0	1	0	20	41				
MRE11A	4361	broad.mit.edu	37	11	94224044	94224044	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94224044C>T	ENST00000323929.3	-	3	330	c.108G>A	c.(106-108)acG>acA	p.T36T	MRE11A_ENST00000536144.1_5'UTR|ANKRD49_ENST00000544612.1_5'Flank|MRE11A_ENST00000407439.3_Silent_p.T39T|MRE11A_ENST00000323977.3_Silent_p.T36T|MRE11A_ENST00000393241.4_Silent_p.T36T|MRE11A_ENST00000540013.1_Silent_p.T36T	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	36					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTGTTACAAACGTATCATTTC	0.328								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(106-108)acG>acA	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							135.0	132.0	133.0					11																	94224044		2201	4298	6499	SO:0001819	synonymous_variant	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94224044C>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.108G>A	11.37:g.94224044C>T						MRE11A_ENST00000393241.4_Silent_p.T36T|MRE11A_ENST00000323977.3_Silent_p.T36T|MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000407439.3_Silent_p.T39T|MRE11A_ENST00000540013.1_Silent_p.T36T	p.T36T	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			3	330	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	36					O43475	Silent	SNP	ENST00000323929.3	37	c.108G>A	CCDS8299.1																																																																																				0.328	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		19	51	0	0	0	1	0	19	51				
LHCGR	3973	broad.mit.edu	37	2	48914916	48914916	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48914916A>T	ENST00000294954.7	-	11	2041	c.2020T>A	c.(2020-2022)Tct>Act	p.S674T	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.S612T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.S647T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	674					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTGGATTGAGAAGGCTTATTT	0.428																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(2020-2022)Tct>Act		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						126.0	122.0	123.0					2																	48914916		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48914916A>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.2020T>A	2.37:g.48914916A>T	ENSP00000294954:p.Ser674Thr					LHCGR_ENST00000344775.3_Missense_Mutation_p.S612T|LHCGR_ENST00000405626.1_Missense_Mutation_p.S647T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000403273.1_3'UTR	p.S674T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	2041	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	674					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.2020T>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	4.910	0.169156	0.09339	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.76060	-0.99;-0.82;-0.89	5.4	-1.28	0.09318	.	1.206280	0.05638	N	0.582836	T	0.67822	0.2934	M	0.70595	2.14	0.09310	N	0.999999	B	0.25007	0.116	B	0.24394	0.053	T	0.49969	-0.8882	9	.	.	.	.	2.0601	0.03590	0.4988:0.1255:0.253:0.1227	.	674	P22888	LSHR_HUMAN	T	612;674;647	ENSP00000344301:S612T;ENSP00000294954:S674T;ENSP00000386033:S647T	.	S	-	1	0	LHCGR	48768420	0.731000	0.28111	0.009000	0.14445	0.175000	0.22909	1.061000	0.30542	-0.108000	0.12066	0.477000	0.44152	TCT		0.428	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		20	80	0	0	0	1	0	20	80				
FCGR1B	2210	broad.mit.edu	37	1	120927161	120927161	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120927161C>T	ENST00000369384.4	-	5	861	c.819G>A	c.(817-819)cgG>cgA	p.R273R	FCGR1B_ENST00000472543.1_5'Flank|FCGR1B_ENST00000369383.4_Silent_p.R181R|RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	273					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	GGGGCTCCTTCCGGTGCACCC	0.542																																						ENST00000369384.4																			0				breast(1)|endometrium(1)|lung(2)	4						c.(817-819)cgG>cgA		Fc fragment of IgG, high affinity Ib, receptor (CD64)							32.0	35.0	34.0					1																	120927161		2201	4297	6498	SO:0001819	synonymous_variant	2210				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity	g.chr1:120927161C>T		CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3614	protein-coding gene	gene with protein product		601502	"""Fc fragment of IgG, high affinity Ib, receptor for (CD64)"""			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.819G>A	1.37:g.120927161C>T						RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000369383.4_Silent_p.R181R	p.R273R	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	5	861	-	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	273					Q7KZ13|Q92638	Silent	SNP	ENST00000369384.4	37	c.819G>A	CCDS30821.1	.	.	.	.	.	.	.	.	.	.	C	1.661	-0.511383	0.04231	.	.	ENSG00000198019	ENST00000369178	.	.	.	1.52	0.535	0.17133	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34179	-0.9839	4	.	.	.	.	3.2858	0.06931	0.0:0.6977:0.0:0.3023	.	.	.	.	K	258	.	.	E	-	1	0	FCGR1B	120728684	0.002000	0.14202	0.115000	0.21578	0.064000	0.16182	0.147000	0.16202	0.198000	0.20407	0.184000	0.17185	GAA		0.542	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1			16	39	0	0	0	1	0	16	39				
GRAMD1C	54762	broad.mit.edu	37	3	113634593	113634593	+	Missense_Mutation	SNP	G	G	A	rs550686355		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113634593G>A	ENST00000358160.4	+	10	1490	c.998G>A	c.(997-999)cGt>cAt	p.R333H	GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R62H|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R166H|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R128H|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	333						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTTATCAACCGTATTTTTCAT	0.323																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(997-999)cGt>cAt		GRAM domain containing 1C							94.0	94.0	94.0					3																	113634593		2202	4295	6497	SO:0001583	missense	54762					integral to membrane		g.chr3:113634593G>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.998G>A	3.37:g.113634593G>A	ENSP00000350881:p.Arg333His					GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R166H|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R62H|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R128H	p.R333H	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			10	1490	+			333					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.998G>A	CCDS33826.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.363287|3.363287	0.61513|0.61513	.|.	.|.	ENSG00000178075|ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446|ENST00000488680	T;T;T;T|.	0.46819|.	1.49;0.86;0.89;0.86|.	5.98|5.98	5.1|5.1	0.69264|0.69264	.|.	0.233267|.	0.41938|.	D|.	0.000798|.	T|T	0.57651|0.57651	0.2068|0.2068	L|L	0.31845|0.31845	0.965|0.965	0.45403|0.45403	D|D	0.998383|0.998383	B;B|.	0.29955|.	0.263;0.14|.	B;B|.	0.24155|.	0.051;0.015|.	T|T	0.60068|0.60068	-0.7335|-0.7335	10|6	0.54805|0.87932	T|D	0.06|0	.|.	12.7739|12.7739	0.57436|0.57436	0.0783:0.0:0.9217:0.0|0.0783:0.0:0.9217:0.0	.|.	166;333|.	E9PHT3;Q8IYS0|.	.;GRM1C_HUMAN|.	H|I	333;62;166;128;128|33	ENSP00000350881:R333H;ENSP00000399844:R62H;ENSP00000419132:R166H;ENSP00000408135:R128H|.	ENSP00000350881:R333H|ENSP00000419571:V33I	R|V	+|+	2|1	0|0	GRAMD1C|GRAMD1C	115117283|115117283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	5.206000|5.206000	0.65192|0.65192	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.323	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		10	28	0	0	0	1	0	10	28				
PLXNC1	10154	broad.mit.edu	37	12	94543462	94543462	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94543462C>T	ENST00000258526.4	+	1	964	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	239	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGACGCCTTTCTCTGGAACGG	0.687																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(715-717)Ctc>Ttc		plexin C1							36.0	41.0	39.0					12																	94543462		2171	4281	6452	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94543462C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.715C>T	12.37:g.94543462C>T	ENSP00000258526:p.Leu239Phe						p.L239F	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			1	964	+			239			Sema.		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.715C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306301	0.40795	.	.	ENSG00000136040	ENST00000258526	T	0.04406	3.63	5.04	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	1.212410	0.05832	N	0.617778	T	0.07638	0.0192	M	0.66939	2.045	0.80722	D	1	P	0.43701	0.815	B	0.32022	0.139	T	0.30001	-0.9993	10	0.66056	D	0.02	.	9.9518	0.41642	0.1384:0.7872:0.0:0.0743	.	239	O60486	PLXC1_HUMAN	F	239	ENSP00000258526:L239F	ENSP00000258526:L239F	L	+	1	0	PLXNC1	93067593	0.936000	0.31750	0.999000	0.59377	0.990000	0.78478	2.054000	0.41335	1.088000	0.41272	0.561000	0.74099	CTC		0.687	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			9	11	0	0	0	1	0	9	11				
EPHA5	2044	broad.mit.edu	37	4	66361152	66361152	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:66361152C>A	ENST00000273854.3	-	4	1620	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.K340N|EPHA5_ENST00000354839.4_Missense_Mutation_p.K340N	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	340	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGAAATAATCCTTTTCACAGA	0.463										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1018-1020)aaG>aaT		EPH receptor A5							171.0	167.0	168.0					4																	66361152		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361152C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1020G>T	4.37:g.66361152C>A	ENSP00000273854:p.Lys340Asn	TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Missense_Mutation_p.K340N|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.K340N	p.K340N	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			4	1620	-			340			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1020G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	3.658	-0.070189	0.07228	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97089	1.62;1.62;-4.24	5.84	5.84	0.93424	.	0.107079	0.41001	D	0.000965	D	0.89750	0.6805	N	0.05554	-0.025	0.31624	N	0.649859	B;B;B;B	0.16603	0.0;0.0;0.0;0.018	B;B;B;B	0.18263	0.001;0.001;0.001;0.021	T	0.82812	-0.0272	10	0.08179	T	0.78	.	8.4655	0.32953	0.0:0.743:0.1401:0.1168	.	340;340;340;340	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	N	340	ENSP00000273854:K340N;ENSP00000346899:K340N;ENSP00000427638:K340N	ENSP00000273854:K340N	K	-	3	2	EPHA5	66043747	0.903000	0.30736	1.000000	0.80357	0.996000	0.88848	-0.093000	0.11111	2.770000	0.95276	0.460000	0.39030	AAG		0.463	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		45	80	1	0	8.48111e-28	1	1.20306e-27	45	80				
RYR2	6262	broad.mit.edu	37	1	237670013	237670013	+	Missense_Mutation	SNP	G	G	A	rs369248015		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237670013G>A	ENST00000366574.2	+	23	2934	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M	RYR2_ENST00000360064.6_Missense_Mutation_p.V871M|RYR2_ENST00000542537.1_Missense_Mutation_p.V857M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	873	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTTAGATCGTGTTGCCTCC	0.368																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2617-2619)Gtg>Atg		ryanodine receptor 2 (cardiac)		G	MET/VAL	0,3650		0,0,1825	71.0	70.0	70.0		2617	5.6	1.0	1		70	1,8163		0,1,4081	no	missense	RYR2	NM_001035.2	21	0,1,5906	AA,AG,GG		0.0122,0.0,0.0085	probably-damaging	873/4968	237670013	1,11813	1825	4082	5907	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237670013G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2617G>A	1.37:g.237670013G>A	ENSP00000355533:p.Val873Met					RYR2_ENST00000360064.6_Missense_Mutation_p.V871M|RYR2_ENST00000542537.1_Missense_Mutation_p.V857M	p.V873M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		23	2934	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	873			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2617G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366228	0.82463	0.0	1.22E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91631	-2.88;-2.88;-2.88	5.59	5.59	0.84812	Ryanodine receptor Ryr (1);	0.000000	0.56097	D	0.000028	D	0.95239	0.8456	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95089	0.8220	10	0.59425	D	0.04	.	19.5901	0.95506	0.0:0.0:1.0:0.0	.	873	Q92736	RYR2_HUMAN	M	873;871;857	ENSP00000355533:V873M;ENSP00000353174:V871M;ENSP00000443798:V857M	ENSP00000353174:V871M	V	+	1	0	RYR2	235736636	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	6.667000	0.74451	2.626000	0.88956	0.585000	0.79938	GTG		0.368	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	17	0	0	0	1	0	8	17				
CDKL5	6792	broad.mit.edu	37	X	18622738	18622738	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18622738C>A	ENST00000379989.3	+	13	1979	c.1694C>A	c.(1693-1695)tCt>tAt	p.S565Y	CDKL5_ENST00000379996.3_Missense_Mutation_p.S565Y|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	565					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACCAGACATTCTAAGACGATG	0.502																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1693-1695)tCt>tAt		cyclin-dependent kinase-like 5							130.0	116.0	121.0					X																	18622738		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622738C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1694C>A	X.37:g.18622738C>A	ENSP00000369325:p.Ser565Tyr					CDKL5_ENST00000379996.3_Missense_Mutation_p.S565Y|CDKL5_ENST00000463994.1_3'UTR	p.S565Y	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			13	1979	+	Hepatocellular(33;0.183)		565					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1694C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000830	0.54254	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71461	-0.57;-0.57	5.92	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.63070	0.2480	L	0.29908	0.895	0.26578	N	0.973431	D	0.56035	0.974	B	0.43082	0.407	T	0.61436	-0.7063	10	0.87932	D	0	-14.4307	16.0595	0.80830	0.0:0.8694:0.1306:0.0	.	565	O76039	CDKL5_HUMAN	Y	565	ENSP00000369332:S565Y;ENSP00000369325:S565Y	ENSP00000369325:S565Y	S	+	2	0	CDKL5	18532659	1.000000	0.71417	0.798000	0.32154	0.882000	0.50991	4.809000	0.62591	1.223000	0.43536	0.600000	0.82982	TCT		0.502	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		13	154	1	0	0.00010058	1	0.000108553	13	154				
CIT	11113	broad.mit.edu	37	12	120295449	120295449	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120295449C>T	ENST00000261833.7	-	4	344	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CIT_ENST00000392521.2_Missense_Mutation_p.E98K	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTCTGACTTCGAAGTCCTTT	0.458																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(292-294)Gaa>Aaa		citron (rho-interacting, serine/threonine kinase 21)							176.0	176.0	176.0					12																	120295449		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120295449C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.292G>A	12.37:g.120295449C>T	ENSP00000261833:p.Glu98Lys					CIT_ENST00000261833.7_Missense_Mutation_p.E98K	p.E98K	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	4	347	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	98			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.292G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341549	0.81911	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000536325	T;T;T	0.65916	-0.18;-0.18;-0.18	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070138	0.53938	D	0.000047	T	0.56046	0.1959	L	0.35793	1.09	0.80722	D	1	B;B	0.25486	0.127;0.011	B;B	0.17098	0.013;0.017	T	0.55592	-0.8117	10	0.72032	D	0.01	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	98;98	Q2M5E1;O14578	.;CTRO_HUMAN	K	98;98;15	ENSP00000376306:E98K;ENSP00000261833:E98K;ENSP00000443199:E15K	ENSP00000261833:E98K	E	-	1	0	CIT	118779832	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.559000	0.82265	2.687000	0.91594	0.591000	0.81541	GAA		0.458	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		47	107	0	0	0	1	0	47	107				
ATAD5	79915	broad.mit.edu	37	17	29220402	29220402	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29220402C>A	ENST00000321990.4	+	21	4909	c.4531C>A	c.(4531-4533)Ctt>Att	p.L1511I		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1511					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATATAGTAATCTTGAGTTTAT	0.348																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4531-4533)Ctt>Att		ATPase family, AAA domain containing 5							74.0	90.0	84.0					17																	29220402		2195	4295	6490	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220402C>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4531C>A	17.37:g.29220402C>A	ENSP00000313171:p.Leu1511Ile						p.L1511I	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			21	4909	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1511					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.4531C>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078647	0.76528	.	.	ENSG00000176208	ENST00000321990	T	0.19938	2.11	5.68	5.68	0.88126	.	0.189093	0.43110	N	0.000601	T	0.38161	0.1030	L	0.54323	1.7	0.41425	D	0.987823	D	0.69078	0.997	D	0.65443	0.935	T	0.01596	-1.1316	10	0.33940	T	0.23	.	13.3667	0.60689	0.0:0.9278:0.0:0.0722	.	1511	Q96QE3	ATAD5_HUMAN	I	1511	ENSP00000313171:L1511I	ENSP00000313171:L1511I	L	+	1	0	ATAD5	26244528	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.235000	0.51328	2.837000	0.97791	0.591000	0.81541	CTT		0.348	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		27	68	1	0	3.73808e-20	1	5.11168e-20	27	68				
NLRC4	58484	broad.mit.edu	37	2	32449775	32449775	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32449775G>A	ENST00000404025.2	-	10	3330	c.2842C>T	c.(2842-2844)Cgt>Tgt	p.R948C	NLRC4_ENST00000402280.1_Missense_Mutation_p.R948C|NLRC4_ENST00000360906.5_Missense_Mutation_p.R948C|NLRC4_ENST00000342905.6_Missense_Mutation_p.R283C			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	948					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGCTCACACGATTTCCCGCC	0.363																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2842-2844)Cgt>Tgt		NLR family, CARD domain containing 4							66.0	68.0	67.0					2																	32449775		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32449775G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2842C>T	2.37:g.32449775G>A	ENSP00000385090:p.Arg948Cys					NLRC4_ENST00000360906.5_Missense_Mutation_p.R948C|NLRC4_ENST00000402280.1_Missense_Mutation_p.R948C|NLRC4_ENST00000342905.6_Missense_Mutation_p.R283C	p.R948C			Q9NPP4	NLRC4_HUMAN			10	3330	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		948					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2842C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	7.503	0.653146	0.14580	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.58	0.752	0.18398	.	0.606546	0.13782	N	0.363171	T	0.20495	0.0493	N	0.01576	-0.805	0.22412	N	0.999122	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13282	-1.0515	9	0.36615	T	0.2	-0.9138	4.5937	0.12319	0.6558:0.1641:0.1801:0.0	.	283;948	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	C	948;948;283;948	ENSP00000354159:R948C;ENSP00000385428:R948C;ENSP00000339666:R283C;ENSP00000385090:R948C	ENSP00000339666:R283C	R	-	1	0	NLRC4	32303279	0.790000	0.28787	0.259000	0.24435	0.302000	0.27658	0.697000	0.25556	-0.008000	0.14320	-0.946000	0.02672	CGT		0.363	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		19	42	0	0	0	1	0	19	42				
PNPLA7	375775	broad.mit.edu	37	9	140400121	140400121	+	Missense_Mutation	SNP	G	G	A	rs369466522		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140400121G>A	ENST00000277531.4	-	13	1529	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	PNPLA7_ENST00000406427.1_Missense_Mutation_p.S473L|PNPLA7_ENST00000371457.1_Missense_Mutation_p.S54L	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	448				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GATGGCATCCGACTTCCTGCT	0.612																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1417-1419)tCg>tTg		patatin-like phospholipase domain containing 7		G	LEU/SER,LEU/SER	0,4406		0,0,2203	148.0	131.0	137.0		1418,1343	1.3	0.1	9		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	473/1343,448/1318	140400121	1,13005	2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140400121G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1343C>T	9.37:g.140400121G>A	ENSP00000277531:p.Ser448Leu					PNPLA7_ENST00000371457.1_Missense_Mutation_p.S54L|PNPLA7_ENST00000277531.4_Missense_Mutation_p.S448L	p.S473L	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	14	1754	-	all_cancers(76;0.126)		448	FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).				B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1418C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455407	0.01071	0.0	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.70869	-0.52;0.26;0.26;0.27	4.26	1.32	0.21799	.	0.658997	0.15951	N	0.236740	T	0.50069	0.1594	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.06405	0.002;0.002	T	0.33214	-0.9877	10	0.30078	T	0.28	-0.5507	7.5668	0.27883	0.3634:0.0:0.6366:0.0	.	473;448	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	L	54;448;473;448;439	ENSP00000360512:S54L;ENSP00000277531:S448L;ENSP00000384610:S473L;ENSP00000400582:S439L	ENSP00000277531:S448L	S	-	2	0	PNPLA7	139519942	0.000000	0.05858	0.066000	0.19879	0.015000	0.08874	-0.171000	0.09883	0.781000	0.33589	-0.225000	0.12378	TCG		0.612	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		48	85	0	0	0	1	0	48	85				
ING2	3622	broad.mit.edu	37	4	184431545	184431545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:184431545G>T	ENST00000302327.3	+	2	485	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	ING2_ENST00000434682.2_Nonsense_Mutation_p.E55*	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	95					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TAATAGTCAAGAATTGGGAGA	0.368																																						ENST00000302327.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(283-285)Gaa>Taa		inhibitor of growth family, member 2							112.0	128.0	123.0					4																	184431545		2203	4300	6503	SO:0001587	stop_gained	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184431545G>T	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.283G>T	4.37:g.184431545G>T	ENSP00000307183:p.Glu95*					ING2_ENST00000434682.2_Nonsense_Mutation_p.E55*	p.E95*	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	485	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	95					B6ZDS1|O95698	Nonsense_Mutation	SNP	ENST00000302327.3	37	c.283G>T	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094376	0.94149	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-25.0828	19.6941	0.96016	0.0:0.0:1.0:0.0	.	.	.	.	X	95;55;55	.	ENSP00000307183:E95X	E	+	1	0	ING2	184668539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.222000	0.95196	2.885000	0.99019	0.655000	0.94253	GAA		0.368	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		42	90	1	0	1.48646e-12	1	1.88167e-12	42	90				
SIRPG	55423	broad.mit.edu	37	20	1617063	1617063	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1617063G>T	ENST00000303415.3	-	3	583	c.519C>A	c.(517-519)ttC>ttA	p.F173L	SIRPG_ENST00000216927.4_Missense_Mutation_p.F173L|SIRPG_ENST00000381583.2_Missense_Mutation_p.F173L|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.F140L	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	173	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.F173L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTCTGGGAGAGAAGCCATGGG	0.557																																						ENST00000381580.1																			1	Substitution - Missense(1)	p.F173L(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(418-420)ttC>ttA		signal-regulatory protein gamma							147.0	133.0	138.0					20																	1617063		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1617063G>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.519C>A	20.37:g.1617063G>T	ENSP00000305529:p.Phe173Leu					SIRPG_ENST00000303415.3_Missense_Mutation_p.F173L|SIRPG_ENST00000216927.4_Missense_Mutation_p.F173L|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.F173L|RP11-77C3.3_ENST00000456177.1_RNA	p.F140L			Q9P1W8	SIRPG_HUMAN			3	599	-			173					B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.420C>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	13.88	2.368291	0.42003	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	2.09	2.09	0.27110	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.26484	0.0647	M	0.91972	3.26	0.34419	D	0.697218	P;D	0.58268	0.571;0.982	B;P	0.58660	0.408;0.843	T	0.45702	-0.9243	10	0.87932	D	0	.	7.6109	0.28129	0.0:0.0:1.0:0.0	.	173;173	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	L	140;173;173;173	ENSP00000370992:F140L;ENSP00000305529:F173L;ENSP00000370995:F173L;ENSP00000216927:F173L	ENSP00000216927:F173L	F	-	3	2	SIRPG	1565063	1.000000	0.71417	0.121000	0.21740	0.010000	0.07245	1.541000	0.36126	1.148000	0.42385	0.404000	0.27445	TTC		0.557	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		37	50	1	0	6.53348e-20	1	8.92126e-20	37	50				
ACCSL	390110	broad.mit.edu	37	11	44076774	44076774	+	Missense_Mutation	SNP	G	G	T	rs375117778		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:44076774G>T	ENST00000378832.1	+	9	1128	c.1072G>T	c.(1072-1074)Gat>Tat	p.D358Y		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	358					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGTGATCATAGATGAGATTTA	0.393																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1072-1074)Gat>Tat		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							112.0	106.0	108.0					11																	44076774		1926	4140	6066	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44076774G>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1072G>T	11.37:g.44076774G>T	ENSP00000368109:p.Asp358Tyr						p.D358Y	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			9	1128	+			358						Missense_Mutation	SNP	ENST00000378832.1	37	c.1072G>T	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297274	0.60086	.	.	ENSG00000205126	ENST00000378832	D	0.82711	-1.64	4.14	4.14	0.48551	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95978	0.8975	10	0.87932	D	0	-9.7798	14.3224	0.66496	0.0:0.0:1.0:0.0	.	358	Q4AC99	1A1L2_HUMAN	Y	358	ENSP00000368109:D358Y	ENSP00000368109:D358Y	D	+	1	0	ACCSL	44033350	1.000000	0.71417	0.320000	0.25306	0.735000	0.41995	8.121000	0.89582	2.291000	0.77112	0.655000	0.94253	GAT		0.393	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		3	14	1	0	0.115264	1	0.116507	3	14				
NTSR1	4923	broad.mit.edu	37	20	61341123	61341123	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61341123C>A	ENST00000370501.3	+	1	935	c.564C>A	c.(562-564)ttC>ttA	p.F188L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	188					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCAAGAAGTTCATCAGCGCCA	0.677																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(562-564)ttC>ttA		neurotensin receptor 1 (high affinity)							83.0	68.0	73.0					20																	61341123		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61341123C>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.564C>A	20.37:g.61341123C>A	ENSP00000359532:p.Phe188Leu						p.F188L	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	935	+	Breast(26;3.65e-08)		188					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.564C>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	C	7.345	0.621682	0.14193	.	.	ENSG00000101188	ENST00000370501	T	0.30981	1.51	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.129479	0.53938	N	0.000055	T	0.10680	0.0261	N	0.01015	-1.05	0.39437	D	0.96717	B	0.06786	0.001	B	0.10450	0.005	T	0.23190	-1.0195	10	0.12103	T	0.63	-31.767	13.2407	0.59995	0.1592:0.8408:0.0:0.0	.	188	P30989	NTR1_HUMAN	L	188	ENSP00000359532:F188L	ENSP00000359532:F188L	F	+	3	2	NTSR1	60811568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.377000	0.34317	2.404000	0.81709	0.561000	0.74099	TTC		0.677	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			33	80	1	0	1.30897e-18	1	1.77529e-18	33	80				
FRMD1	79981	broad.mit.edu	37	6	168468077	168468077	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:168468077G>T	ENST00000283309.6	-	3	418	c.354C>A	c.(352-354)ttC>ttA	p.F118L	FRMD1_ENST00000440994.2_Missense_Mutation_p.F50L|FRMD1_ENST00000432403.1_5'Flank|FRMD1_ENST00000537786.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	118	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AATCTTTTGAGAAGTACTTGC	0.478																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(352-354)ttC>ttA		FERM domain containing 1							91.0	108.0	103.0					6																	168468077		2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168468077G>T		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.354C>A	6.37:g.168468077G>T	ENSP00000283309:p.Phe118Leu					FRMD1_ENST00000440994.2_Missense_Mutation_p.F50L|FRMD1_ENST00000537786.1_5'UTR	p.F118L	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	3	418	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	118			FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.354C>A	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754868	0.31046	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000511714	T;T;T	0.74632	-0.86;-0.86;-0.86	2.8	1.76	0.24704	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.64402	U	0.000007	T	0.54822	0.1882	L	0.48986	1.54	0.80722	D	1	P;B;B	0.51449	0.945;0.002;0.002	P;B;B	0.53006	0.715;0.019;0.011	T	0.65113	-0.6247	10	0.02654	T	1	.	7.6308	0.28238	0.2438:0.0:0.7562:0.0	.	30;118;50	B7Z8G9;Q8N878;Q8N878-2	.;FRMD1_HUMAN;.	L	118;50;160	ENSP00000283309:F118L;ENSP00000414115:F50L;ENSP00000424439:F160L	ENSP00000283309:F118L	F	-	3	2	FRMD1	168210926	1.000000	0.71417	0.990000	0.47175	0.223000	0.24884	1.388000	0.34442	1.410000	0.46936	0.298000	0.19748	TTC		0.478	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		16	47	1	0	1.5739e-10	1	1.93697e-10	16	47				
PPP1CB	5500	broad.mit.edu	37	2	29001835	29001835	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:29001835G>T	ENST00000395366.2	+	3	617	c.345G>T	c.(343-345)gaG>gaT	p.E115D	PPP1CB_ENST00000358506.2_Missense_Mutation_p.E115D|PPP1CB_ENST00000296122.6_Missense_Mutation_p.E115D	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	115					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|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)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AATATCCAGAGAACTTCTTTC	0.343																																						ENST00000395366.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(343-345)gaG>gaT		protein phosphatase 1, catalytic subunit, beta isozyme							80.0	83.0	82.0					2																	29001835		2203	4300	6503	SO:0001583	missense	5500				cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding	g.chr2:29001835G>T		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.345G>T	2.37:g.29001835G>T	ENSP00000378769:p.Glu115Asp					PPP1CB_ENST00000296122.6_Missense_Mutation_p.E115D|PPP1CB_ENST00000358506.2_Missense_Mutation_p.E115D	p.E115D	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN			3	617	+	Acute lymphoblastic leukemia(172;0.155)		115					B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	ENST00000395366.2	37	c.345G>T	CCDS33169.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372157	0.82573	.	.	ENSG00000213639	ENST00000455580;ENST00000420282;ENST00000441461;ENST00000358506;ENST00000296122;ENST00000395366	T;D;D;T;T;T	0.84442	3.54;-1.85;-1.85;3.54;3.54;3.54	5.72	4.84	0.62591	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	N	0.12443	0.215	0.46654	D	0.999145	B;B	0.10296	0.003;0.0	B;B	0.17098	0.017;0.006	T	0.71377	-0.4611	10	0.87932	D	0	-15.4495	12.9649	0.58478	0.1345:0.0:0.8655:0.0	.	87;115	B4E163;P62140	.;PP1B_HUMAN	D	87;115;115;115;115;115	ENSP00000390715:E87D;ENSP00000398839:E115D;ENSP00000414918:E115D;ENSP00000351298:E115D;ENSP00000296122:E115D;ENSP00000378769:E115D	ENSP00000296122:E115D	E	+	3	2	PPP1CB	28855339	0.830000	0.29337	1.000000	0.80357	0.999000	0.98932	-0.048000	0.11944	1.562000	0.49601	0.650000	0.86243	GAG		0.343	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1			14	30	1	0	4.3838e-07	1	4.998e-07	14	30				
SPATA31C1	441452	broad.mit.edu	37	9	90535331	90535331	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:90535331G>A	ENST00000602681.1	+	0	1235							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCGGATCCTCGAACCAAGCAT	0.592																																						ENST00000602681.1																			0																				41.0	49.0	46.0					9																	90535331		692	1591	2283			0							g.chr9:90535331G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535331G>A														0	1235	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.592	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		96	169	0	0	0	1	0	96	169				
PDE2A	5138	broad.mit.edu	37	11	72289284	72289284	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72289284T>G	ENST00000334456.5	-	30	2853	c.2608A>C	c.(2608-2610)Atc>Ctc	p.I870L	PDE2A_ENST00000376450.3_Missense_Mutation_p.I614L|PDE2A_ENST00000540345.1_Missense_Mutation_p.I861L|PDE2A_ENST00000444035.2_Missense_Mutation_p.I861L|PDE2A_ENST00000544570.1_Missense_Mutation_p.I863L|PDE2A_ENST00000418754.2_Missense_Mutation_p.I755L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	870	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CACTTGTAGATGGGCATTGCA	0.557																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2608-2610)Atc>Ctc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						181.0	149.0	160.0					11																	72289284		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72289284T>G	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2608A>C	11.37:g.72289284T>G	ENSP00000334910:p.Ile870Leu					PDE2A_ENST00000418754.2_Missense_Mutation_p.I755L|PDE2A_ENST00000444035.2_Missense_Mutation_p.I861L|PDE2A_ENST00000544570.1_Missense_Mutation_p.I863L|PDE2A_ENST00000376450.3_Missense_Mutation_p.I614L|PDE2A_ENST00000540345.1_Missense_Mutation_p.I861L	p.I870L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		30	2853	-			870			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2608A>C	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	T	7.960	0.746831	0.15710	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.59	5.59	0.84812	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	N	0.00841	-1.15	0.50171	D	0.999851	B;B;B;B;B;B	0.18610	0.004;0.0;0.01;0.029;0.0;0.0	B;B;B;B;B;B	0.28385	0.089;0.003;0.058;0.07;0.003;0.007	T	0.58792	-0.7574	10	0.02654	T	1	.	13.7186	0.62712	0.0:0.0:0.0:1.0	.	755;870;861;863;870;614	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	L	870;614;861;939;863;755;861	ENSP00000334910:I870L;ENSP00000365633:I614L;ENSP00000411657:I861L;ENSP00000442256:I863L;ENSP00000410310:I755L;ENSP00000446399:I861L	ENSP00000334910:I870L	I	-	1	0	PDE2A	71966932	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.973000	0.70456	2.125000	0.65367	0.418000	0.28097	ATC		0.557	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		19	50	0	0	0	1	0	19	50				
CA8	767	broad.mit.edu	37	8	61193682	61193682	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:61193682C>A	ENST00000317995.4	-	1	289	c.25G>T	c.(25-27)Gat>Tat	p.D9Y		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	9					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	GCGACGGTATCTTCGATGAAG	0.677																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(25-27)Gat>Tat		carbonic anhydrase VIII							73.0	57.0	63.0					8																	61193682		2186	4291	6477	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61193682C>A	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.25G>T	8.37:g.61193682C>A	ENSP00000314407:p.Asp9Tyr						p.D9Y	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			1	289	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	9					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.25G>T	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716550	0.48622	.	.	ENSG00000178538	ENST00000317995	T	0.69040	-0.37	3.64	3.64	0.41730	.	0.139017	0.46442	D	0.000297	T	0.48624	0.1510	N	0.22421	0.69	0.44366	D	0.997264	B	0.33583	0.418	B	0.20384	0.029	T	0.56878	-0.7906	10	0.62326	D	0.03	.	13.4703	0.61278	0.0:1.0:0.0:0.0	.	9	P35219	CAH8_HUMAN	Y	9	ENSP00000314407:D9Y	ENSP00000314407:D9Y	D	-	1	0	CA8	61356236	0.813000	0.29090	0.996000	0.52242	0.707000	0.40811	2.973000	0.49264	1.748000	0.51833	0.462000	0.41574	GAT		0.677	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			6	10	1	0	0.217242	1	0.218251	6	10				
LRRN4	164312	broad.mit.edu	37	20	6022404	6022404	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6022404G>A	ENST00000378858.4	-	5	1711	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	496					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGGCTGAGGCGAGCTTATGCT	0.637																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1486-1488)tCg>tTg		leucine rich repeat neuronal 4							108.0	117.0	114.0					20																	6022404		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6022404G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1487C>T	20.37:g.6022404G>A	ENSP00000368135:p.Ser496Leu						p.S496L	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	1711	-			496					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1487C>T	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172563	0.38315	.	.	ENSG00000125872	ENST00000378858	T	0.57273	0.41	5.15	-6.65	0.01795	.	5.577160	0.00166	N	0.000003	T	0.22360	0.0539	N	0.04508	-0.205	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.18871	-1.0323	10	0.10111	T	0.7	2.4494	3.2983	0.06974	0.5031:0.1141:0.2664:0.1164	.	496	Q8WUT4	LRRN4_HUMAN	L	496	ENSP00000368135:S496L	ENSP00000368135:S496L	S	-	2	0	LRRN4	5970404	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.465000	0.06680	-1.566000	0.01673	0.561000	0.74099	TCG		0.637	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		61	93	0	0	0	1	0	61	93				
UBA6	55236	broad.mit.edu	37	4	68530925	68530925	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:68530925A>G	ENST00000322244.5	-	10	938	c.879T>C	c.(877-879)acT>acC	p.T293T	UBA6_ENST00000420827.2_Silent_p.T293T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	293					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CTGTTTTAGGAGTCTTAACTT	0.323																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(877-879)acT>acC		ubiquitin-like modifier activating enzyme 6							63.0	68.0	67.0					4																	68530925		2203	4296	6499	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68530925A>G	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.879T>C	4.37:g.68530925A>G						UBA6_ENST00000420827.2_Silent_p.T293T	p.T293T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			10	938	-			293					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.879T>C	CCDS3516.1																																																																																				0.323	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		4	54	0	0	0	1	0	4	54				
AIMP2	7965	broad.mit.edu	37	7	6054938	6054938	+	Silent	SNP	G	G	A	rs538013036		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:6054938G>A	ENST00000223029.3	+	2	416	c.297G>A	c.(295-297)acG>acA	p.T99T	SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000395236.2_Intron|AIMP2_ENST00000400479.2_Silent_p.T21T	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	99	Interaction with PARK2.		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).		apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ATGAGCCCACGACTTTAACCA	0.463																																						ENST00000223029.3																			0				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(295-297)acG>acA		aminoacyl tRNA synthetase complex-interacting multifunctional protein 2							109.0	97.0	101.0					7																	6054938		2203	4300	6503	SO:0001819	synonymous_variant	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6054938G>A	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.297G>A	7.37:g.6054938G>A						AIMP2_ENST00000400479.2_Silent_p.T21T|AIMP2_ENST00000395236.2_Intron	p.T99T	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN			2	416	+			99		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).	Interaction with PARK2.		Q75MR1|Q96CZ5|Q9P1L2	Silent	SNP	ENST00000223029.3	37	c.297G>A	CCDS5344.1																																																																																				0.463	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		21	48	0	0	0	1	0	21	48				
FPR3	2359	broad.mit.edu	37	19	52327920	52327920	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52327920C>T	ENST00000339223.4	+	2	1098	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	FPR3_ENST00000595991.1_Missense_Mutation_p.R307C	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	307					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTTTATGGGTCGTAACTTCCA	0.473																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(919-921)Cgt>Tgt		formyl peptide receptor 3							133.0	128.0	130.0					19																	52327920		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327920C>T		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.919C>T	19.37:g.52327920C>T	ENSP00000341821:p.Arg307Cys					FPR3_ENST00000595991.1_Missense_Mutation_p.R307C	p.R307C	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	1098	+			307						Missense_Mutation	SNP	ENST00000339223.4	37	c.919C>T	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	9.794	1.178663	0.21787	.	.	ENSG00000187474	ENST00000339223	T	0.40225	1.04	2.34	1.27	0.21489	.	0.818789	0.10312	N	0.689855	T	0.46367	0.1389	L	0.49126	1.545	0.20926	N	0.99983	D	0.65815	0.995	P	0.53450	0.726	T	0.32025	-0.9922	10	0.87932	D	0	.	6.9098	0.24329	0.4946:0.5054:0.0:0.0	.	307	P25089	FPR3_HUMAN	C	307	ENSP00000341821:R307C	ENSP00000341821:R307C	R	+	1	0	FPR3	57019732	0.000000	0.05858	0.010000	0.14722	0.004000	0.04260	0.525000	0.22956	0.329000	0.23460	-0.708000	0.03648	CGT		0.473	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		33	61	0	0	0	1	0	33	61				
APC	324	broad.mit.edu	37	5	112175861	112175861	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112175861A>G	ENST00000457016.1	+	16	4950	c.4570A>G	c.(4570-4572)Ata>Gta	p.I1524V	APC_ENST00000257430.4_Missense_Mutation_p.I1524V|APC_ENST00000508376.2_Missense_Mutation_p.I1524V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1524	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAATTAAGAATAATGCCTCC	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4570-4572)Ata>Gta		adenomatous polyposis coli							77.0	79.0	79.0					5																	112175861		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175861A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4570A>G	5.37:g.112175861A>G	ENSP00000413133:p.Ile1524Val	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.I1524V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.I1524V	p.I1524V			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4950	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1524			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4570A>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.949969	0.34377	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90069	-2.61;-2.61;-2.61	6.16	4.96	0.65561	.	0.098581	0.64402	D	0.000002	D	0.85173	0.5636	L	0.54323	1.7	0.45822	D	0.998698	B;B	0.24132	0.098;0.041	B;B	0.21360	0.034;0.014	T	0.81044	-0.1111	9	.	.	.	-20.2222	12.8996	0.58119	0.8785:0.0:0.0:0.1215	.	1526;1524	Q4LE70;P25054	.;APC_HUMAN	V	1524	ENSP00000413133:I1524V;ENSP00000257430:I1524V;ENSP00000427089:I1524V	.	I	+	1	0	APC	112203760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.493000	0.60341	2.367000	0.80283	0.528000	0.53228	ATA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		21	36	0	0	0	1	0	21	36				
TMEM67	91147	broad.mit.edu	37	8	94792860	94792860	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:94792860A>G	ENST00000453321.3	+	8	812	c.754A>G	c.(754-756)Atg>Gtg	p.M252V	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.M171V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	252			M -> T (in MKS3 and COACHS). {ECO:0000269|PubMed:19466712, ECO:0000269|PubMed:19508969, ECO:0000269|PubMed:19574260}.		cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TCTTGGAAATATGTGTGTGAT	0.368																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(754-756)Atg>Gtg		transmembrane protein 67							260.0	247.0	252.0					8																	94792860		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94792860A>G	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.754A>G	8.37:g.94792860A>G	ENSP00000389998:p.Met252Val					TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.M171V	p.M252V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		8	812	+	Breast(36;4.14e-07)		252		M -> T (in MKS3 and COACHS; also in a patient with overlaping clinical features with JBTS6).			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.754A>G	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	A	16.74	3.206267	0.58343	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623	D;D;D	0.97328	-4.34;-4.34;-4.34	5.86	5.86	0.93980	.	0.155797	0.64402	D	0.000001	D	0.96380	0.8819	M	0.72894	2.215	0.80722	D	1	B;B	0.20164	0.042;0.009	B;B	0.25614	0.062;0.014	D	0.94371	0.7596	10	0.72032	D	0.01	-4.0852	16.2559	0.82517	1.0:0.0:0.0:0.0	.	252;171	Q5HYA8;G5E9H2	MKS3_HUMAN;.	V	149;252;171	ENSP00000388671:M149V;ENSP00000389998:M252V;ENSP00000386966:M171V	ENSP00000314488:M242V	M	+	1	0	TMEM67	94862036	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.629000	0.90983	2.239000	0.73571	0.528000	0.53228	ATG		0.368	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		41	81	0	0	0	1	0	41	81				
FGD4	121512	broad.mit.edu	37	12	32754280	32754280	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32754280C>A	ENST00000427716.2	+	6	1183	c.759C>A	c.(757-759)atC>atA	p.I253I	FGD4_ENST00000266482.3_Silent_p.I5I|FGD4_ENST00000546442.1_Silent_p.I160I|FGD4_ENST00000525053.1_Silent_p.I365I|FGD4_ENST00000534526.2_Silent_p.I390I|FGD4_ENST00000531134.1_Silent_p.I338I|FGD4_ENST00000381025.3_Silent_p.I5I	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	253	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGAATAAAATCTTTTCTAATA	0.353																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(757-759)atC>atA		FYVE, RhoGEF and PH domain containing 4							74.0	85.0	81.0					12																	32754280		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32754280C>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.759C>A	12.37:g.32754280C>A						FGD4_ENST00000266482.3_Silent_p.I5I|FGD4_ENST00000381025.3_Silent_p.I5I|FGD4_ENST00000525053.1_Silent_p.I365I|FGD4_ENST00000531134.1_Silent_p.I338I|FGD4_ENST00000534526.2_Silent_p.I390I|FGD4_ENST00000546442.1_Silent_p.I160I	p.I253I	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			6	1183	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		253			DH.		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.759C>A	CCDS8727.1																																																																																				0.353	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		20	38	1	0	6.44725e-10	1	7.85205e-10	20	38				
FGF14	2259	broad.mit.edu	37	13	102379130	102379130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:102379130C>A	ENST00000376143.4	-	4	438	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	FGF14_ENST00000376131.4_Nonsense_Mutation_p.E152*	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	147					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.E147*(1)|p.E152*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAACAGATTCTTTAAACTTG	0.358																																						ENST00000376131.4																			2	Substitution - Nonsense(2)	p.E147*(1)|p.E152*(1)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(454-456)Gaa>Taa		fibroblast growth factor 14							52.0	52.0	52.0					13																	102379130		2203	4300	6503	SO:0001587	stop_gained	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102379130C>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.439G>T	13.37:g.102379130C>A	ENSP00000365313:p.Glu147*					FGF14_ENST00000376143.4_Nonsense_Mutation_p.E147*	p.E152*	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN			4	549	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		147					Q86YN7|Q96QX6	Nonsense_Mutation	SNP	ENST00000376143.4	37	c.454G>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060964	0.93846	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	.	.	.	5.86	5.86	0.93980	.	0.092783	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1854	0.98212	0.0:1.0:0.0:0.0	.	.	.	.	X	152;147	.	ENSP00000365301:E152X	E	-	1	0	FGF14	101177131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.786000	0.95864	0.591000	0.81541	GAA		0.358	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			3	19	1	0	0.184627	1	0.185817	3	19				
C16orf71	146562	broad.mit.edu	37	16	4794991	4794991	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4794991A>G	ENST00000299320.5	+	6	1500	c.1022A>G	c.(1021-1023)aAa>aGa	p.K341R	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.K355R	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	341										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAGGACACCAAAGAGGCAGAT	0.602																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(1021-1023)aAa>aGa		chromosome 16 open reading frame 71							58.0	54.0	56.0					16																	4794991		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4794991A>G	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1022A>G	16.37:g.4794991A>G	ENSP00000299320:p.Lys341Arg					C16orf71_ENST00000590191.1_Missense_Mutation_p.K355R|RP11-127I20.7_ENST00000588099.1_RNA	p.K341R	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			6	1500	+			341					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.1022A>G	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	9.710	1.156697	0.21454	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.06608	3.28	3.82	-1.07	0.09968	.	4.113190	0.00903	N	0.002366	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39292	-0.9621	10	0.48119	T	0.1	0.0636	3.8414	0.08915	0.4695:0.1982:0.3323:0.0	.	341	Q8IYS4	CP071_HUMAN	R	341;96	ENSP00000299320:K341R	ENSP00000299320:K341R	K	+	2	0	C16orf71	4734992	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.616000	0.02053	-0.229000	0.09854	0.459000	0.35465	AAA		0.602	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		5	70	0	0	0	1	0	5	70				
C1orf112	55732	broad.mit.edu	37	1	169776949	169776949	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169776949A>G	ENST00000286031.6	+	8	1281	c.581A>G	c.(580-582)cAg>cGg	p.Q194R	C1orf112_ENST00000359326.4_Missense_Mutation_p.Q194R|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.Q165R|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q252R	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	194										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTAAGCACCAGTCCATAATA	0.348																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(580-582)cAg>cGg		chromosome 1 open reading frame 112							137.0	125.0	129.0					1																	169776949		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169776949A>G	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.581A>G	1.37:g.169776949A>G	ENSP00000286031:p.Gln194Arg					C1orf112_ENST00000413811.2_Missense_Mutation_p.Q165R|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q194R|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q252R|C1orf112_ENST00000498289.1_3'UTR	p.Q194R	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			8	1281	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		194					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.581A>G	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.718766	0.68844	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.81	5.81	0.92471	.	0.209202	0.51477	D	0.000085	T	0.35480	0.0933	M	0.72118	2.19	0.45852	D	0.998719	B;P	0.43662	0.4;0.814	B;B	0.42214	0.121;0.38	T	0.31861	-0.9928	10	0.46703	T	0.11	-5.5133	14.9888	0.71371	1.0:0.0:0.0:0.0	.	165;194	B4E0A9;Q9NSG2	.;CA112_HUMAN	R	165;194;252;194	ENSP00000389257:Q165R;ENSP00000352276:Q194R;ENSP00000415583:Q252R;ENSP00000286031:Q194R	ENSP00000286031:Q194R	Q	+	2	0	C1orf112	168043573	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.516000	0.90552	2.226000	0.72624	0.377000	0.23210	CAG		0.348	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		24	35	0	0	0	1	0	24	35				
TTN	7273	broad.mit.edu	37	2	179654773	179654773	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179654773C>T	ENST00000591111.1	-	12	2094	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N	TTN_ENST00000589042.1_Missense_Mutation_p.D624N|TTN_ENST00000342992.6_Missense_Mutation_p.D624N|TTN_ENST00000360870.5_Missense_Mutation_p.D624N|TTN_ENST00000460472.2_Missense_Mutation_p.D578N|TTN_ENST00000359218.5_Missense_Mutation_p.D578N|TTN_ENST00000342175.6_Missense_Mutation_p.D578N			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATACTAAATCTTGTTCTTTG	0.348																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(1870-1872)Gat>Aat		titin							244.0	224.0	231.0					2																	179654773		2202	4300	6502	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179654773C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1870G>A	2.37:g.179654773C>T	ENSP00000465570:p.Asp624Asn					TTN_ENST00000342175.6_Missense_Mutation_p.D578N|TTN_ENST00000359218.5_Missense_Mutation_p.D578N|TTN_ENST00000342992.6_Missense_Mutation_p.D624N|TTN_ENST00000360870.5_Missense_Mutation_p.D624N|TTN_ENST00000460472.2_Missense_Mutation_p.D578N|TTN_ENST00000591111.1_Missense_Mutation_p.D624N	p.D624N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		12	2094	-			624					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.1870G>A		.	.	.	.	.	.	.	.	.	.	C	16.13	3.037314	0.54896	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.87	5.87	0.94306	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57125	0.2032	L	0.57536	1.79	0.28092	N	0.931748	P;P;P;P;D	0.53462	0.549;0.549;0.549;0.549;0.96	B;B;B;B;P	0.52856	0.346;0.346;0.346;0.346;0.711	T	0.55010	-0.8207	9	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	578;578;578;624;624	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	624;578;578;578;578;624	ENSP00000343764:D624N;ENSP00000434586:D578N;ENSP00000340554:D578N;ENSP00000352154:D578N;ENSP00000354117:D624N	ENSP00000340554:D578N	D	-	1	0	TTN	179363018	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.764000	0.55264	2.780000	0.95670	0.655000	0.94253	GAT		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	39	0	0	0	1	0	27	39				
DNMBP	23268	broad.mit.edu	37	10	101637071	101637071	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101637071A>G	ENST00000324109.4	-	17	4662	c.4571T>C	c.(4570-4572)tTc>tCc	p.F1524S	DNMBP_ENST00000543621.1_Missense_Mutation_p.F770S|DNMBP_ENST00000540316.1_Missense_Mutation_p.F460S|DNMBP_ENST00000342239.3_Missense_Mutation_p.F1548S	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1524	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCGTGCCTTGAAGGTGTAGAC	0.483																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4642-4644)tTc>tCc		dynamin binding protein							156.0	150.0	152.0					10																	101637071		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101637071A>G	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4571T>C	10.37:g.101637071A>G	ENSP00000315659:p.Phe1524Ser					DNMBP_ENST00000540316.1_Missense_Mutation_p.F460S|DNMBP_ENST00000324109.4_Missense_Mutation_p.F1524S|DNMBP_ENST00000543621.1_Missense_Mutation_p.F770S	p.F1548S			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	17	4734	-		Colorectal(252;0.234)	1524			SH3 6.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.4643T>C	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369774	0.82573	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.38	5.38	0.77491	Src homology-3 domain (4);	0.000000	0.50627	D	0.000112	T	0.81384	0.4811	H	0.97732	4.065	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87285	0.2295	10	0.87932	D	0	-20.5392	12.5218	0.56065	0.8612:0.1388:0.0:0.0	.	1524;770;1548	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	S	1548;1524;770;770;460	ENSP00000344914:F1548S;ENSP00000315659:F1524S;ENSP00000443657:F770S;ENSP00000443573:F460S	ENSP00000315659:F1524S	F	-	2	0	DNMBP	101627061	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.269000	0.78482	2.033000	0.60031	0.459000	0.35465	TTC		0.483	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		36	63	0	0	0	1	0	36	63				
ARL4A	10124	broad.mit.edu	37	7	12728459	12728459	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:12728459C>T	ENST00000396663.1	+	2	1062	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	ARL4A_ENST00000396662.1_Missense_Mutation_p.R194W|ARL4A_ENST00000396664.2_Missense_Mutation_p.R194W|ARL4A_ENST00000356797.3_Missense_Mutation_p.R194W|ARL4A_ENST00000404894.1_Missense_Mutation_p.R194W	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	194					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AAAAATGTTGCGGCAACAGAA	0.378																																						ENST00000396663.1																			0				NS(2)|lung(3)|ovary(1)	6						c.(580-582)Cgg>Tgg		ADP-ribosylation factor-like 4A							43.0	46.0	45.0					7																	12728459		2191	4283	6474	SO:0001583	missense	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728459C>T	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.580C>T	7.37:g.12728459C>T	ENSP00000379898:p.Arg194Trp					ARL4A_ENST00000356797.3_Missense_Mutation_p.R194W|ARL4A_ENST00000404894.1_Missense_Mutation_p.R194W|ARL4A_ENST00000396664.2_Missense_Mutation_p.R194W|ARL4A_ENST00000396662.1_Missense_Mutation_p.R194W	p.R194W	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	1062	+			194					A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	37	c.580C>T	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891612	0.33442	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	4.67	2.81	0.32909	.	0.000000	0.64402	D	0.000001	T	0.54062	0.1835	N	0.22421	0.69	0.46927	D	0.999259	P	0.45396	0.857	B	0.37422	0.249	T	0.59021	-0.7532	10	0.87932	D	0	.	12.703	0.57045	0.6172:0.3828:0.0:0.0	.	194	P40617	ARL4A_HUMAN	W	194	ENSP00000379897:R194W;ENSP00000349250:R194W;ENSP00000379899:R194W;ENSP00000379898:R194W;ENSP00000385236:R194W	ENSP00000349250:R194W	R	+	1	2	ARL4A	12694984	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.766000	0.38491	0.648000	0.30732	0.650000	0.86243	CGG		0.378	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		18	41	0	0	0	1	0	18	41				
YTHDF3	253943	broad.mit.edu	37	8	64099024	64099024	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:64099024G>A	ENST00000539294.1	+	4	768	c.452G>A	c.(451-453)aGt>aAt	p.S151N	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_5'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	152							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTGCTTATAGTAGCAGTTAT	0.433																																						ENST00000539294.1																			0											c.(451-453)aGt>aAt		YTH domain family, member 3							72.0	69.0	70.0					8																	64099024		1931	4164	6095	SO:0001583	missense	253943							g.chr8:64099024G>A	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.452G>A	8.37:g.64099024G>A	ENSP00000473496:p.Ser151Asn					YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_5'UTR	p.S151N	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		4	768	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	152					B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.452G>A																																																																																					0.433	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		10	26	0	0	0	1	0	10	26				
REST	5978	broad.mit.edu	37	4	57797479	57797479	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57797479G>T	ENST00000309042.7	+	4	2769	c.2455G>T	c.(2455-2457)Gat>Tat	p.D819Y		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	819					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TCTCCGAAAAGATAAAAAGGA	0.498																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2455-2457)Gat>Tat		RE1-silencing transcription factor							107.0	116.0	113.0					4																	57797479		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797479G>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2455G>T	4.37:g.57797479G>T	ENSP00000311816:p.Asp819Tyr						p.D819Y	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2769	+	Glioma(25;0.08)|all_neural(26;0.181)		819					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2455G>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362749	0.24684	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.10382	2.88	5.38	2.7	0.31948	.	1.558860	0.03956	N	0.289277	T	0.07728	0.0194	N	0.08118	0	0.09310	N	0.999999	B;B	0.28350	0.208;0.005	B;B	0.26202	0.067;0.021	T	0.40757	-0.9546	10	0.48119	T	0.1	-0.9783	10.1347	0.42699	0.0:0.2662:0.5898:0.144	.	796;819	F8WAN5;Q13127	.;REST_HUMAN	Y	819;796	ENSP00000311816:D819Y	ENSP00000311816:D819Y	D	+	1	0	REST	57492236	0.954000	0.32549	0.065000	0.19835	0.000000	0.00434	1.763000	0.38461	0.385000	0.24970	-0.913000	0.02753	GAT		0.498	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		77	117	1	0	1.52378e-38	1	2.19585e-38	77	117				
ZNF155	7711	broad.mit.edu	37	19	44503353	44503353	+	IGR	SNP	G	G	T	rs565642079		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44503353G>T	ENST00000270014.2	+	0	2596				RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ATTTATCACAGAATCCATGCT	0.393																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000586860.1																			0																				72.0	68.0	69.0					19																	44503353		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr19:44503353G>T	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901			19.37:g.44503353G>T						RP11-15A1.7_ENST00000589021.1_RNA								0	244	-								A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	RNA	SNP	ENST00000270014.2	37		CCDS12634.1																																																																																				0.393	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		12	29	1	0	0.00010058	1	0.000108553	12	29				
MUC6	4588	broad.mit.edu	37	11	1016454	1016454	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1016454G>T	ENST00000421673.2	-	31	6397	c.6347C>A	c.(6346-6348)tCt>tAt	p.S2116Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2116	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGTTGCAGAACTCAAGTG	0.522																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6346-6348)tCt>tAt		mucin 6, oligomeric mucus/gel-forming							119.0	125.0	123.0					11																	1016454		2071	4209	6280	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016454G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6347C>A	11.37:g.1016454G>T	ENSP00000406861:p.Ser2116Tyr						p.S2116Y	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6397	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2116			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6347C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195741	0.38806	.	.	ENSG00000184956	ENST00000421673	T	0.19250	2.16	2.39	1.42	0.22433	.	.	.	.	.	T	0.18130	0.0435	L	0.29908	0.895	0.09310	N	1	P	0.46064	0.872	P	0.45881	0.496	T	0.11470	-1.0586	9	0.62326	D	0.03	.	7.251	0.26150	0.1568:0.0:0.8432:0.0	.	2116	Q6W4X9	MUC6_HUMAN	Y	2116	ENSP00000406861:S2116Y	ENSP00000406861:S2116Y	S	-	2	0	MUC6	1006454	0.019000	0.18553	0.002000	0.10522	0.250000	0.25880	1.209000	0.32357	0.276000	0.22118	0.185000	0.17295	TCT		0.522	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		27	40	1	0	4.72057e-08	1	5.51616e-08	27	40				
RBM19	9904	broad.mit.edu	37	12	114364909	114364909	+	Silent	SNP	G	G	A	rs549666074		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114364909G>A	ENST00000545145.2	-	17	2272	c.2194C>T	c.(2194-2196)Ctg>Ttg	p.L732L	RBM19_ENST00000261741.5_Silent_p.L732L|RBM19_ENST00000392561.3_Silent_p.L732L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	732	RRM 5. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTAATAAACAGAGTACATCCT	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17861	0.0		0.0	False		,,,				2504	0.0					ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2194-2196)Ctg>Ttg		RNA binding motif protein 19							103.0	93.0	96.0					12																	114364909		2203	4300	6503	SO:0001819	synonymous_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114364909G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2194C>T	12.37:g.114364909G>A						RBM19_ENST00000392561.3_Silent_p.L732L|RBM19_ENST00000261741.5_Silent_p.L732L	p.L732L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			17	2272	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		732			RRM 5.		A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	c.2194C>T	CCDS9172.1																																																																																				0.483	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		15	26	0	0	0	1	0	15	26				
CAMK2D	817	broad.mit.edu	37	4	114680550	114680550	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114680550C>T	ENST00000342666.5	-	2	85	c.86G>A	c.(85-87)aGa>aAa	p.R29K	CAMK2D_ENST00000394524.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000508738.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000394526.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000296402.5_Missense_Mutation_p.R29K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000511664.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000454265.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000418639.2_Missense_Mutation_p.R29K			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	29	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CATACATCTTCTCACCACTGA	0.328																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(85-87)aGa>aAa		calcium/calmodulin-dependent protein kinase II delta							102.0	102.0	102.0					4																	114680550		2203	4300	6503	SO:0001583	missense	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114680550C>T	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.86G>A	4.37:g.114680550C>T	ENSP00000339740:p.Arg29Lys					CAMK2D_ENST00000394526.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000511664.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000296402.5_Missense_Mutation_p.R29K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000394524.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000342666.5_Missense_Mutation_p.R29K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000508738.1_Missense_Mutation_p.R29K	p.R29K			Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	2	944	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	29			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.86G>A	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688599	0.48097	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.98	5.15	0.70609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.141177	0.45606	D	0.000346	T	0.37046	0.0989	L	0.31157	0.91	0.80722	D	1	B;D;D;B;D	0.57571	0.232;0.98;0.98;0.011;0.971	B;D;D;B;D	0.79108	0.161;0.986;0.986;0.033;0.992	T	0.07712	-1.0758	10	0.20046	T	0.44	.	14.8013	0.69919	0.0:0.9305:0.0:0.0695	.	29;29;29;29;29	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	K	29	ENSP00000378032:R29K;ENSP00000415248:R29K;ENSP00000415707:R29K;ENSP00000406131:R29K;ENSP00000378034:R29K;ENSP00000296402:R29K;ENSP00000425824:R29K;ENSP00000339740:R29K;ENSP00000423482:R29K;ENSP00000423677:R29K;ENSP00000378030:R29K;ENSP00000424245:R29K;ENSP00000369098:R29K;ENSP00000422566:R29K	ENSP00000296402:R29K	R	-	2	0	CAMK2D	114899999	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.381000	0.79718	1.553000	0.49476	-0.218000	0.12543	AGA		0.328	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			20	47	0	0	0	1	0	20	47				
TFPI	7035	broad.mit.edu	37	2	188331683	188331683	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188331683T>G	ENST00000233156.3	-	8	1189	c.895A>C	c.(895-897)Att>Ctt	p.I299L	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.I299L	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	299					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TTAACAAAAATTTCTTCATAT	0.249																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(895-897)Att>Ctt		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						27.0	30.0	29.0					2																	188331683		2155	4230	6385	SO:0001583	missense	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188331683T>G		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.895A>C	2.37:g.188331683T>G	ENSP00000233156:p.Ile299Leu					TFPI_ENST00000392365.1_Missense_Mutation_p.I299L|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	p.I299L	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		8	1189	-			299					O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.895A>C	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.439414	0.25900	.	.	ENSG00000003436	ENST00000392365;ENST00000233156	T;T	0.55930	0.49;0.49	4.63	-0.621	0.11564	.	0.341919	0.28742	N	0.014285	T	0.45256	0.1333	M	0.61703	1.905	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.39057	-0.9632	10	0.56958	D	0.05	.	9.1757	0.37109	0.0:0.3463:0.0:0.6537	.	299	P10646	TFPI1_HUMAN	L	299	ENSP00000376172:I299L;ENSP00000233156:I299L	ENSP00000233156:I299L	I	-	1	0	TFPI	188039928	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.220000	0.09215	-0.645000	0.05458	-1.139000	0.01908	ATT		0.249	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		8	15	0	0	0	1	0	8	15				
CXorf22	170063	broad.mit.edu	37	X	35984785	35984785	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35984785C>T	ENST00000297866.5	+	9	1580	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	505								p.S505L(2)|p.S505W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAATCTTTGTCGGTAAAATCT	0.368																																						ENST00000297866.5																			3	Substitution - Missense(3)	p.S505L(2)|p.S505W(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1513-1515)tCg>tTg		chromosome X open reading frame 22							142.0	129.0	133.0					X																	35984785		2202	4299	6501	SO:0001583	missense	170063							g.chrX:35984785C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1514C>T	X.37:g.35984785C>T	ENSP00000297866:p.Ser505Leu						p.S505L	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			9	1580	+			505					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1514C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	3.909	-0.020521	0.07634	.	.	ENSG00000165164	ENST00000297866	T	0.15256	2.44	5.7	2.71	0.32032	.	0.471841	0.21941	N	0.066878	T	0.13586	0.0329	L	0.57536	1.79	0.09310	N	1	B	0.23377	0.084	B	0.14023	0.01	T	0.23190	-1.0195	10	0.26408	T	0.33	-38.5711	3.9214	0.09245	0.3138:0.4772:0.0:0.2089	.	505	Q6ZTR5	CX022_HUMAN	L	505	ENSP00000297866:S505L	ENSP00000297866:S505L	S	+	2	0	CXorf22	35894706	0.014000	0.17966	0.001000	0.08648	0.001000	0.01503	1.445000	0.35079	0.580000	0.29522	-0.199000	0.12753	TCG		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		27	44	0	0	0	1	0	27	44				
ITIH6	347365	broad.mit.edu	37	X	54785156	54785156	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54785156G>A	ENST00000218436.6	-	8	1380	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	451	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TCATATATGCGCCGGGCTATT	0.577																																						ENST00000218436.6																			0											c.(1351-1353)Cgc>Tgc		inter-alpha-trypsin inhibitor heavy chain family, member 6							46.0	42.0	44.0					X																	54785156		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785156G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1351C>T	X.37:g.54785156G>A	ENSP00000218436:p.Arg451Cys						p.R451C	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	1380	-			451			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1351C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	4.720	0.133954	0.09032	.	.	ENSG00000102313	ENST00000218436	T	0.14144	2.53	3.66	0.549	0.17213	von Willebrand factor, type A (3);	0.148173	0.39759	U	0.001262	T	0.16300	0.0392	L	0.58969	1.84	0.09310	N	1	P	0.52692	0.955	P	0.49361	0.608	T	0.09164	-1.0687	10	0.66056	D	0.02	.	4.604	0.12368	0.2151:0.0:0.6125:0.1725	.	451	Q6UXX5	ITH5L_HUMAN	C	451	ENSP00000218436:R451C	ENSP00000218436:R451C	R	-	1	0	ITIH5L	54801881	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.470000	0.22084	0.002000	0.14630	-0.196000	0.12772	CGC		0.577	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		19	37	0	0	0	1	0	19	37				
YTHDC2	64848	broad.mit.edu	37	5	112903439	112903439	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112903439T>C	ENST00000161863.4	+	23	3350	c.3137T>C	c.(3136-3138)aTa>aCa	p.I1046T		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1046					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCCCATAGAATAGCTAATATT	0.423																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3136-3138)aTa>aCa		YTH domain containing 2							89.0	84.0	86.0					5																	112903439		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112903439T>C	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3137T>C	5.37:g.112903439T>C	ENSP00000161863:p.Ile1046Thr						p.I1046T	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	23	3350	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1046					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3137T>C	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.115179	0.37339	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02525	4.26	5.47	5.47	0.80525	Domain of unknown function DUF1605 (1);	0.044150	0.85682	D	0.000000	T	0.02571	0.0078	N	0.08118	0	0.80722	D	1	B	0.21071	0.051	B	0.28465	0.09	T	0.60016	-0.7345	10	0.39692	T	0.17	.	15.5343	0.75990	0.0:0.0:0.0:1.0	.	1046	Q9H6S0	YTDC2_HUMAN	T	1046;956	ENSP00000161863:I1046T	ENSP00000161863:I1046T	I	+	2	0	YTHDC2	112931338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.412000	0.59787	2.070000	0.61991	0.533000	0.62120	ATA		0.423	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		19	26	0	0	0	1	0	19	26				
PLXNA3	55558	broad.mit.edu	37	X	153697246	153697246	+	Silent	SNP	G	G	A	rs140777906	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153697246G>A	ENST00000369682.3	+	25	4543	c.4368G>A	c.(4366-4368)acG>acA	p.T1456T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1456					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					ATGCCATCACGGGCGAGGCAC	0.617													G|||	1	0.000264901	0.0	0.0	3775	,	,		14424	0.0		0.001	False		,,,				2504	0.0					ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(4366-4368)acG>acA		plexin A3		G		1,3834		0,1,0,1631,571	116.0	87.0	97.0		4368	-9.7	0.3	X	dbSNP_134	97	3,6725		0,2,1,2426,1871	no	coding-synonymous	PLXNA3	NM_017514.3		0,3,1,4057,2442	AA,AG,A,GG,G		0.0446,0.0261,0.0379		1456/1872	153697246	4,10559	2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153697246G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4368G>A	X.37:g.153697246G>A							p.T1456T	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			25	4543	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		1456					Q5HY36	Silent	SNP	ENST00000369682.3	37	c.4368G>A	CCDS14752.1																																																																																				0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		26	73	0	0	0	1	0	26	73				
SCUBE2	57758	broad.mit.edu	37	11	9069544	9069544	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9069544C>T	ENST00000309263.3	-	14	1726	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	SCUBE2_ENST00000457346.2_Missense_Mutation_p.E581K|SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E581K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	552						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATAAACATTTCCTTAGGGGTG	0.498																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1741-1743)Gaa>Aaa		signal peptide, CUB domain, EGF-like 2							172.0	179.0	177.0					11																	9069544		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9069544C>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1654G>A	11.37:g.9069544C>T	ENSP00000310658:p.Glu552Lys					RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E581K|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000309263.3_Missense_Mutation_p.E552K	p.E581K			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	15	1815	-			552					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1741G>A		.	.	.	.	.	.	.	.	.	.	C	17.66	3.444113	0.63067	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000520467	T;D;D	0.81579	-1.33;-1.5;-1.51	4.89	3.98	0.46160	.	0.095256	0.64402	D	0.000001	D	0.83995	0.5375	.	.	.	0.40108	D	0.976452	P;P	0.41393	0.748;0.632	P;B	0.52109	0.69;0.41	T	0.83148	-0.0105	9	0.35671	T	0.21	.	13.5568	0.61763	0.0:0.9237:0.0:0.0763	.	581;552	Q9NQ36-2;Q9NQ36	.;SCUB2_HUMAN	K	581;552;581	ENSP00000390481:E581K;ENSP00000310658:E552K;ENSP00000429969:E581K	ENSP00000310658:E552K	E	-	1	0	SCUBE2	9026120	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.812000	0.75226	1.189000	0.43028	0.655000	0.94253	GAA		0.498	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		77	135	0	0	0	1	0	77	135				
FTH1P3	2498	broad.mit.edu	37	5	17354391	17354391	+	lincRNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:17354391G>A	ENST00000511821.1	+	0	250				FTH1P10_ENST00000401830.3_RNA																							GTTCTTCAAAGCCACATCATC	0.502																																						ENST00000511821.1																			0																																																			0							g.chr5:17354391G>A																													5.37:g.17354391G>A						FTH1P10_ENST00000401830.3_RNA								0	250	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.502	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			6	73	0	0	0	1	0	6	73				
CCDC30	728621	broad.mit.edu	37	1	43076678	43076678	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43076678G>T	ENST00000340612.4	+	9	1413	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	CCDC30_ENST00000390640.4_Missense_Mutation_p.E260D|CCDC30_ENST00000507855.1_Missense_Mutation_p.E260D|CCDC30_ENST00000428554.2_Missense_Mutation_p.E471D|CCDC30_ENST00000342022.4_Missense_Mutation_p.E471D			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	471						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AATTGTCAGAGAAGCTATCTA	0.368																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1411-1413)gaG>gaT		coiled-coil domain containing 30							114.0	107.0	109.0					1																	43076678		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43076678G>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1413G>T	1.37:g.43076678G>T	ENSP00000340378:p.Glu471Asp					CCDC30_ENST00000507855.1_Missense_Mutation_p.E260D|CCDC30_ENST00000342022.4_Missense_Mutation_p.E471D|CCDC30_ENST00000340612.4_Missense_Mutation_p.E471D|CCDC30_ENST00000390640.4_Missense_Mutation_p.E260D	p.E471D			Q5VVM6	CCD30_HUMAN			17	2556	+			471					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1413G>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224599	0.39300	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.68	0.488	0.16848	.	0.293752	0.37304	N	0.002146	T	0.50377	0.1612	M	0.72894	2.215	0.27788	N	0.942919	P;D	0.57571	0.872;0.98	P;P	0.54856	0.495;0.762	T	0.42565	-0.9444	10	0.30854	T	0.27	.	4.3304	0.11060	0.3669:0.1604:0.4728:0.0	.	471;260	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	D	471;260;471;471;260	ENSP00000397035:E471D;ENSP00000426711:E260D;ENSP00000340378:E471D;ENSP00000339280:E471D;ENSP00000375051:E260D	ENSP00000340378:E471D	E	+	3	2	CCDC30	42849265	1.000000	0.71417	0.889000	0.34880	0.005000	0.04900	0.526000	0.22971	0.042000	0.15717	-0.251000	0.11542	GAG		0.368	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		15	44	1	0	7.93312e-07	1	8.98086e-07	15	44				
ZFX	7543	broad.mit.edu	37	X	24228960	24228960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24228960G>T	ENST00000379177.1	+	11	2312	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*	ZFX_ENST00000540034.1_Nonsense_Mutation_p.E668*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.E579*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.E629*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.E400*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.E629*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	629					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TATCCACCAAGAAAGCAAAAC	0.418																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1885-1887)Gaa>Taa		zinc finger protein, X-linked							119.0	99.0	106.0					X																	24228960		2203	4300	6503	SO:0001587	stop_gained	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24228960G>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1885G>T	X.37:g.24228960G>T	ENSP00000368475:p.Glu629*					ZFX_ENST00000338565.3_Nonsense_Mutation_p.E579*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.E668*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.E400*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.E629*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.E629*	p.E629*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2312	+			629					B9EG97|O43668|Q8WYJ8	Nonsense_Mutation	SNP	ENST00000379177.1	37	c.1885G>T	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	38	6.647217	0.97730	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	.	.	.	5.11	4.23	0.50019	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	3.5553	14.9324	0.70926	0.0:0.14:0.86:0.0	.	.	.	.	X	400;629;351;629;629;668;579	.	ENSP00000304985:E629X	E	+	1	0	ZFX	24138881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	1.018000	0.39521	0.594000	0.82650	GAA		0.418	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		32	69	1	0	2.85442e-18	1	3.86477e-18	32	69				
ATP8B4	79895	broad.mit.edu	37	15	50366349	50366349	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:50366349T>C	ENST00000284509.6	-	3	203	c.62A>G	c.(61-63)gAa>gGa	p.E21G	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E21G	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	21						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCATTATATTCACGGTCATT	0.368																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(61-63)gAa>gGa		ATPase, class I, type 8B, member 4							221.0	190.0	200.0					15																	50366349		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50366349T>C	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.62A>G	15.37:g.50366349T>C	ENSP00000284509:p.Glu21Gly					ATP8B4_ENST00000559829.1_Missense_Mutation_p.E21G	p.E21G	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	3	203	-		all_lung(180;0.00183)	21					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.62A>G	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719013	0.48622	.	.	ENSG00000104043	ENST00000284509	T	0.76186	-1.0	5.15	5.15	0.70609	.	1.184750	0.06579	N	0.749993	T	0.71013	0.3290	L	0.50993	1.605	0.35782	D	0.821708	B	0.31174	0.311	B	0.28991	0.097	T	0.63625	-0.6595	10	0.38643	T	0.18	.	11.3524	0.49596	0.0:0.0:0.0:1.0	.	21	Q8TF62	AT8B4_HUMAN	G	21	ENSP00000284509:E21G	ENSP00000284509:E21G	E	-	2	0	ATP8B4	48153641	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.236000	0.43052	1.942000	0.56320	0.528000	0.53228	GAA		0.368	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		17	30	0	0	0	1	0	17	30				
GOLGA4	2803	broad.mit.edu	37	3	37285051	37285051	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37285051A>G	ENST00000361924.2	+	1	384	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E	GOLGA4_ENST00000444882.1_Missense_Mutation_p.K4E|GOLGA4_ENST00000356847.4_Missense_Mutation_p.K4E|RP11-259K5.2_ENST00000604992.1_RNA|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	4					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATGTTCAAGAAACTGAAGCA	0.617																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(10-12)Aaa>Gaa		golgin A4							41.0	42.0	42.0					3																	37285051		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37285051A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.10A>G	3.37:g.37285051A>G	ENSP00000354486:p.Lys4Glu					GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Missense_Mutation_p.K4E|GOLGA4_ENST00000356847.4_Missense_Mutation_p.K4E|RP11-259K5.2_ENST00000604992.1_RNA	p.K4E	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			1	384	+			4					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.10A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823449	0.71143	.	.	ENSG00000144674	ENST00000361924;ENST00000444882;ENST00000356847;ENST00000450863;ENST00000429018;ENST00000431105	T;T	0.38077	1.16;1.25	4.47	4.47	0.54385	.	.	.	.	.	T	0.49695	0.1572	L	0.43152	1.355	0.32552	N	0.532212	D;D;D;D	0.67145	0.996;0.996;0.993;0.996	D;D;D;D	0.75484	0.981;0.986;0.968;0.981	T	0.60326	-0.7285	9	0.87932	D	0	.	10.4074	0.44272	1.0:0.0:0.0:0.0	.	4;4;4;4	Q86W71;F8W8Q7;Q13439;E7EVX2	.;.;GOGA4_HUMAN;.	E	4	ENSP00000354486:K4E;ENSP00000349305:K4E	ENSP00000349305:K4E	K	+	1	0	GOLGA4	37260055	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.310000	0.59141	1.760000	0.52011	0.377000	0.23210	AAA		0.617	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		21	45	0	0	0	1	0	21	45				
LOC401127	401127	broad.mit.edu	37	4	39482879	39482879	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:39482879C>T	ENST00000513652.1	+	0	886																											TTGCTAATTTCTCTGTTACTG	0.468																																						ENST00000513652.1																			0																																																			0							g.chr4:39482879C>T																													4.37:g.39482879C>T														0	886	+									RNA	SNP	ENST00000513652.1	37																																																																																						0.468	RP11-472B18.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361032.1			19	34	0	0	0	1	0	19	34				
ACLY	47	broad.mit.edu	37	17	40063734	40063734	+	Silent	SNP	G	G	A	rs374252025		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40063734G>A	ENST00000352035.2	-	7	838	c.708C>T	c.(706-708)atC>atT	p.I236I	ACLY_ENST00000353196.1_Silent_p.I236I|ACLY_ENST00000393896.2_Silent_p.I236I|ACLY_ENST00000590151.1_Silent_p.I236I|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	236	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GAGGGAACTCGATGTCACCCC	0.587																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(706-708)atC>atT		ATP citrate lyase		G	,	2,4404	4.2+/-10.8	0,2,2201	93.0	85.0	87.0		708,708	-8.1	0.6	17		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ACLY	NM_001096.2,NM_198830.1	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	236/1102,236/1092	40063734	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40063734G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.708C>T	17.37:g.40063734G>A						ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.I236I|ACLY_ENST00000393896.2_Silent_p.I236I|ACLY_ENST00000590151.1_Silent_p.I236I	p.I236I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			7	838	-		Breast(137;0.000143)	236					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.708C>T	CCDS11412.1																																																																																				0.587	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		35	69	0	0	0	1	0	35	69				
PCDHB3	56132	broad.mit.edu	37	5	140480258	140480258	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140480258C>A	ENST00000231130.2	+	1	25	c.25C>A	c.(25-27)Ctt>Att	p.L9I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	9					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGCGATTTCTTAGACAAAG	0.522																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(25-27)Ctt>Att									94.0	104.0	101.0					5																	140480258		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480258C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.25C>A	5.37:g.140480258C>A	ENSP00000231130:p.Leu9Ile					AC005754.7_ENST00000607216.1_RNA	p.L9I	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	25	+			9					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.25C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349169	0.24426	.	.	ENSG00000113205	ENST00000231130	T	0.50548	0.74	4.56	4.56	0.56223	.	.	.	.	.	T	0.45518	0.1346	L	0.60455	1.87	0.09310	N	1	B	0.27498	0.18	B	0.27796	0.083	T	0.33163	-0.9879	9	0.33141	T	0.24	.	13.2037	0.59782	0.0:1.0:0.0:0.0	.	9	Q9Y5E6	PCDB3_HUMAN	I	9	ENSP00000231130:L9I	ENSP00000231130:L9I	L	+	1	0	PCDHB3	140460442	0.010000	0.17322	0.814000	0.32528	0.945000	0.59286	1.013000	0.29937	2.237000	0.73441	0.655000	0.94253	CTT		0.522	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		23	44	1	0	4.26978e-12	1	5.35675e-12	23	44				
SRSF3	6428	broad.mit.edu	37	6	36566754	36566754	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:36566754G>A	ENST00000373715.6	+	3	451	c.335G>A	c.(334-336)cGt>cAt	p.R112H	SRSF3_ENST00000339436.7_Missense_Mutation_p.R112H	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	112	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						CCTCCACCTCGTCGCAGGTAC	0.468																																						ENST00000373715.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(334-336)cGt>cAt		serine/arginine-rich splicing factor 3							90.0	84.0	86.0					6																	36566754		2203	4300	6503	SO:0001583	missense	6428				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:36566754G>A	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10785	protein-coding gene	gene with protein product		603364	"""splicing factor, arginine/serine-rich 3"""	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.335G>A	6.37:g.36566754G>A	ENSP00000362820:p.Arg112His					SRSF3_ENST00000339436.7_Missense_Mutation_p.R112H	p.R112H	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN			3	451	+			112			Arg/Ser-rich (RS domain).		B4E241|O08831|P23152|Q5R3K0	Missense_Mutation	SNP	ENST00000373715.6	37	c.335G>A	CCDS4823.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390894	0.82902	.	.	ENSG00000112081	ENST00000373715;ENST00000339436	T;T	0.23147	1.92;2.49	5.59	5.59	0.84812	.	0.047673	0.85682	D	0.000000	T	0.29190	0.0726	M	0.81112	2.525	0.58432	D	0.999997	P;D	0.56287	0.878;0.975	B;B	0.43155	0.05;0.41	T	0.37220	-0.9715	10	0.72032	D	0.01	.	19.5798	0.95461	0.0:0.0:1.0:0.0	.	112;112	B4E241;P84103	.;SRSF3_HUMAN	H	112	ENSP00000362820:R112H;ENSP00000344762:R112H	ENSP00000344762:R112H	R	+	2	0	SRSF3	36674732	1.000000	0.71417	0.948000	0.38648	0.982000	0.71751	9.869000	0.99810	2.622000	0.88805	0.563000	0.77884	CGT		0.468	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017		4	80	0	0	0	1	0	4	80				
CATSPERB	79820	broad.mit.edu	37	14	92159544	92159544	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92159544A>C	ENST00000256343.3	-	9	913	c.757T>G	c.(757-759)Ttt>Gtt	p.F253V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	253					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATAACTAAAAAATGATTCGTT	0.338																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(757-759)Ttt>Gtt		catsper channel auxiliary subunit beta							117.0	113.0	115.0					14																	92159544		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92159544A>C	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.757T>G	14.37:g.92159544A>C	ENSP00000256343:p.Phe253Val						p.F253V	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			9	913	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	253					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.757T>G	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463763	0.43736	.	.	ENSG00000133962	ENST00000256343	T	0.44083	0.93	5.88	2.18	0.27775	.	0.628911	0.15008	N	0.285774	T	0.31071	0.0785	L	0.53249	1.67	0.28692	N	0.904563	B	0.27351	0.176	B	0.24541	0.054	T	0.20075	-1.0286	10	0.20519	T	0.43	-11.2695	4.6509	0.12594	0.5136:0.3488:0.1376:0.0	.	253	Q9H7T0	CTSRB_HUMAN	V	253	ENSP00000256343:F253V	ENSP00000256343:F253V	F	-	1	0	CATSPERB	91229297	0.904000	0.30761	0.972000	0.41901	0.483000	0.33249	0.560000	0.23500	0.444000	0.26612	0.459000	0.35465	TTT		0.338	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		20	53	0	0	0	1	0	20	53				
HSD3B2	3284	broad.mit.edu	37	1	119964880	119964880	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:119964880C>A	ENST00000543831.1	+	4	1005	c.756C>A	c.(754-756)ttC>ttA	p.F252L	HSD3B2_ENST00000369416.3_Missense_Mutation_p.F252L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	252					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GAGGTCAATTCTATTACATCT	0.527																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(754-756)ttC>ttA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						52.0	56.0	54.0					1																	119964880		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964880C>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.756C>A	1.37:g.119964880C>A	ENSP00000445122:p.Phe252Leu					HSD3B2_ENST00000369416.3_Missense_Mutation_p.F252L	p.F252L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	1005	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	252					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.756C>A	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	15.82	2.946728	0.53186	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.87571	-2.27;-2.27	3.98	3.07	0.35406	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.048758	0.85682	D	0.000000	D	0.91549	0.7331	M	0.91459	3.21	0.42338	D	0.99232	D	0.56287	0.975	P	0.62184	0.899	D	0.91862	0.5500	9	.	.	.	0.6244	10.4856	0.44719	0.0:0.9022:0.0:0.0977	.	252	P26439	3BHS2_HUMAN	L	252	ENSP00000445122:F252L;ENSP00000358424:F252L	.	F	+	3	2	HSD3B2	119766403	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	2.294000	0.43567	0.681000	0.31386	0.298000	0.19748	TTC		0.527	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		31	51	1	0	5.60225e-13	1	7.13348e-13	31	51				
MAST4	375449	broad.mit.edu	37	5	66448468	66448468	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:66448468T>C	ENST00000403625.2	+	25	3594	c.3299T>C	c.(3298-3300)aTg>aCg	p.M1100T	MAST4_ENST00000261569.7_Missense_Mutation_p.M906T|MAST4_ENST00000403666.1_Missense_Mutation_p.M911T|MAST4_ENST00000404260.3_Missense_Mutation_p.M1103T|MAST4_ENST00000405643.1_Missense_Mutation_p.M921T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1103	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTTACAGATATGTTTGCTGTT	0.542																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3307-3309)aTg>aCg		microtubule associated serine/threonine kinase family member 4							116.0	116.0	116.0					5																	66448468		1956	4166	6122	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66448468T>C	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3299T>C	5.37:g.66448468T>C	ENSP00000385727:p.Met1100Thr					MAST4_ENST00000405643.1_Missense_Mutation_p.M921T|MAST4_ENST00000403666.1_Missense_Mutation_p.M911T|MAST4_ENST00000261569.7_Missense_Mutation_p.M906T|MAST4_ENST00000403625.2_Missense_Mutation_p.M1100T	p.M1103T			O15021	MAST4_HUMAN		Lung(70;0.011)	25	3616	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1103			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.3308T>C	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876790	0.33162	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.63744	-0.04;-0.04;-0.06;-0.06;-0.04	6.17	5.03	0.67393	.	0.236312	0.45867	D	0.000337	T	0.40322	0.1112	N	0.08118	0	0.26566	N	0.973648	B;B	0.31581	0.329;0.055	B;B	0.32762	0.152;0.041	T	0.28776	-1.0033	10	0.21540	T	0.41	-30.6796	11.8368	0.52330	0.0:0.0673:0.0:0.9327	.	1103;911	O15021;O15021-3	MAST4_HUMAN;.	T	1103;1100;911;921;921;906;839	ENSP00000385048:M1103T;ENSP00000385727:M1100T;ENSP00000384313:M911T;ENSP00000384099:M921T;ENSP00000261569:M906T	ENSP00000261569:M906T	M	+	2	0	MAST4	66484224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.695000	0.47043	2.371000	0.80710	0.533000	0.62120	ATG		0.542	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			41	66	0	0	0	1	0	41	66				
XK	7504	broad.mit.edu	37	X	37586899	37586899	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:37586899G>T	ENST00000378616.3	+	3	722	c.519G>T	c.(517-519)atG>atT	p.M173I	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	173					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTCTCCTCATGACCATATCCC	0.498																																						ENST00000378616.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(517-519)atG>atT		X-linked Kx blood group (McLeod syndrome)							77.0	61.0	67.0					X																	37586899		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37586899G>T	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.519G>T	X.37:g.37586899G>T	ENSP00000367879:p.Met173Ile					TM4SF2_ENST00000465127.1_Intron	p.M173I	NM_021083.2	NP_066569.1	P51811	XK_HUMAN			3	722	+		all_lung(315;0.175)	173					Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.519G>T	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247384	0.59103	.	.	ENSG00000047597	ENST00000378616	T	0.61158	0.13	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	L	0.58669	1.825	0.80722	D	1	P	0.49358	0.923	P	0.54544	0.755	T	0.61013	-0.7148	10	0.13108	T	0.6	-12.288	18.198	0.89829	0.0:0.0:1.0:0.0	.	173	P51811	XK_HUMAN	I	173	ENSP00000367879:M173I	ENSP00000367879:M173I	M	+	3	0	XK	37471838	1.000000	0.71417	0.182000	0.23118	0.588000	0.36517	9.350000	0.97070	2.235000	0.73313	0.556000	0.70494	ATG		0.498	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		9	34	1	0	3.09899e-07	1	3.54467e-07	9	34				
SLC16A7	9194	broad.mit.edu	37	12	60098718	60098718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:60098718G>T	ENST00000261187.4	+	2	300	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	SLC16A7_ENST00000552432.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000547379.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000552024.1_Nonsense_Mutation_p.E46*	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	46					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATTCTTCAAAGAAATTCAGCA	0.423																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(136-138)Gaa>Taa		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						113.0	106.0	108.0					12																	60098718		2203	4300	6503	SO:0001587	stop_gained	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60098718G>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.136G>T	12.37:g.60098718G>T	ENSP00000261187:p.Glu46*					SLC16A7_ENST00000552432.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000547379.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000549465.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000552024.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000549588.1_3'UTR	p.E46*	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	2	300	+			46					Q8NEM3|Q9UPB3	Nonsense_Mutation	SNP	ENST00000261187.4	37	c.136G>T	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	37	6.611112	0.97705	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000549465;ENST00000552024;ENST00000548610;ENST00000261187	.	.	.	5.74	5.74	0.90152	.	0.206025	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3075	0.98634	0.0:0.0:1.0:0.0	.	.	.	.	X	46	.	.	E	+	1	0	SLC16A7	58384985	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.718000	0.98758	2.880000	0.98712	0.650000	0.86243	GAA		0.423	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		4	41	1	0	0.00909568	1	0.00935351	4	41				
SON	6651	broad.mit.edu	37	21	34927011	34927011	+	Missense_Mutation	SNP	G	G	A	rs372837748		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34927011G>A	ENST00000356577.4	+	3	5949	c.5474G>A	c.(5473-5475)cGa>cAa	p.R1825Q	SON_ENST00000300278.4_Missense_Mutation_p.R1825Q|SON_ENST00000290239.6_Missense_Mutation_p.R1825Q|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.R1825Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1825					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTAAGATCTCGAAGTAAGCGT	0.393																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(5473-5475)cGa>cAa		SON DNA binding protein							83.0	85.0	84.0					21																	34927011		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34927011G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5474G>A	21.37:g.34927011G>A	ENSP00000348984:p.Arg1825Gln					SON_ENST00000290239.6_Missense_Mutation_p.R1825Q|SON_ENST00000381679.4_Missense_Mutation_p.R1825Q|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.R1825Q	p.R1825Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	5949	+			1825					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5474G>A	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.084669|3.084669	0.55861|0.55861	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.19250	.|2.16;2.16;2.16;2.16	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.42548	.|D	.|0.000695	T|T	0.46386|0.46386	0.1390|0.1390	L|L	0.56769|0.56769	1.78|1.78	0.39909|0.39909	D|D	0.974005|0.974005	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.997;0.992;0.992;0.996;0.996	T|T	0.39522|0.39522	-0.9610|-0.9610	5|10	.|0.66056	.|D	.|0.02	.|.	19.7329|19.7329	0.96190|0.96190	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1825;1825;1506;1825;1825	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	K|Q	820|1825	.|ENSP00000348984:R1825Q;ENSP00000290239:R1825Q;ENSP00000300278:R1825Q;ENSP00000371095:R1825Q	.|ENSP00000290239:R1825Q	E|R	+|+	1|2	0|0	SON|SON	33848881|33848881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.818000|3.818000	0.55678|0.55678	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.393	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		28	54	0	0	0	1	0	28	54				
CCDC30	728621	broad.mit.edu	37	1	43031966	43031966	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43031966G>T	ENST00000340612.4	+	5	675		c.e5-1		CCDC30_ENST00000390640.4_Splice_Site|CCDC30_ENST00000507855.1_Splice_Site|CCDC30_ENST00000428554.2_Splice_Site|RNU6-536P_ENST00000363384.1_RNA|CCDC30_ENST00000342022.4_Splice_Site			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTTTGCTTTAGCATCCATCAT	0.383																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.e13-1		coiled-coil domain containing 30							42.0	42.0	42.0					1																	43031966		2203	4298	6501	SO:0001630	splice_region_variant	728621							g.chr1:43031966G>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.676-1G>T	1.37:g.43031966G>T						CCDC30_ENST00000507855.1_Splice_Site|CCDC30_ENST00000342022.4_Splice_Site|CCDC30_ENST00000340612.4_Splice_Site|CCDC30_ENST00000390640.4_Splice_Site				Q5VVM6	CCD30_HUMAN			13	1818	+								Q14F06|Q5VVM5	Splice_Site	SNP	ENST00000340612.4	37		CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072186	0.36566	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3305	0.87262	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC30	42804553	0.997000	0.39634	0.945000	0.38365	0.196000	0.23810	3.943000	0.56621	2.769000	0.95229	0.655000	0.94253	.		0.383	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	Intron	9	10	1	0	2.52707e-12	1	3.18246e-12	9	10				
YME1L1	10730	broad.mit.edu	37	10	27411889	27411889	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27411889C>T	ENST00000326799.3	-	12	1435	c.1287G>A	c.(1285-1287)gcG>gcA	p.A429A	YME1L1_ENST00000376016.3_Silent_p.A372A|YME1L1_ENST00000375972.3_Silent_p.A339A|YME1L1_ENST00000463270.1_5'Flank	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	429					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAGGAGCATTCGCCTTTGCTT	0.328																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1285-1287)gcG>gcA		YME1-like 1 ATPase							97.0	95.0	95.0					10																	27411889		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27411889C>T	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1287G>A	10.37:g.27411889C>T						YME1L1_ENST00000376016.3_Silent_p.A372A|YME1L1_ENST00000375972.3_Silent_p.A339A	p.A429A	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			12	1435	-			429					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.1287G>A	CCDS7152.1																																																																																				0.328	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		16	32	0	0	0	1	0	16	32				
TSPYL5	85453	broad.mit.edu	37	8	98289208	98289208	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:98289208T>G	ENST00000322128.3	-	1	968	c.865A>C	c.(865-867)Aga>Cga	p.R289R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	289					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TAGCCCAATCTGGCAAGGCCG	0.468																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(865-867)Aga>Cga		TSPY-like 5							79.0	84.0	82.0					8																	98289208		2203	4300	6503	SO:0001819	synonymous_variant	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289208T>G	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.865A>C	8.37:g.98289208T>G							p.R289R	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	968	-	Breast(36;2.56e-06)		289					B3KRF0|Q9C0B3	Silent	SNP	ENST00000322128.3	37	c.865A>C	CCDS34927.1																																																																																				0.468	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		10	57	0	0	0	1	0	10	57				
ZNF106	64397	broad.mit.edu	37	15	42742156	42742156	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42742156G>A	ENST00000263805.4	-	2	2571	c.2245C>T	c.(2245-2247)Cca>Tca	p.P749S	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	749					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P749T(1)									TTGAGGTTTGGCTCAGGAAGG	0.512																																						ENST00000263805.4																			1	Substitution - Missense(1)	p.P749T(1)	endometrium(1)								c.(2245-2247)Cca>Tca		zinc finger protein 106							153.0	143.0	146.0					15																	42742156		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742156G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2245C>T	15.37:g.42742156G>A	ENSP00000263805:p.Pro749Ser					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.P749S	NM_022473.1	NP_071918.1					2	2571	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2245C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532497	0.85812	.	.	ENSG00000103994	ENST00000263805	T	0.33216	1.42	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57051	-0.7877	10	0.87932	D	0	-14.836	20.3226	0.98684	0.0:0.0:1.0:0.0	.	532;749	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	S	749	ENSP00000263805:P749S	ENSP00000263805:P749S	P	-	1	0	ZFP106	40529448	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.367000	0.97148	2.805000	0.96524	0.650000	0.86243	CCA		0.512	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		26	89	0	0	0	1	0	26	89				
BRCC3	79184	broad.mit.edu	37	X	154319106	154319106	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154319106G>T	ENST00000369462.1	+	7	565	c.540G>T	c.(538-540)aaG>aaT	p.K180N	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.K180N|BRCC3_ENST00000369459.2_Missense_Mutation_p.K180N|BRCC3_ENST00000340647.4_Missense_Mutation_p.K181N|BRCC3_ENST00000330045.7_Missense_Mutation_p.K180N	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	180					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGCCCAAAAGAGTTCAGAGT	0.353																																						ENST00000369462.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(538-540)aaG>aaT		BRCA1/BRCA2-containing complex, subunit 3							108.0	93.0	98.0					X																	154319106		1833	4081	5914	SO:0001583	missense	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154319106G>T	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.540G>T	X.37:g.154319106G>T	ENSP00000358474:p.Lys180Asn					BRCC3_ENST00000340647.4_Missense_Mutation_p.K181N|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.K180N|BRCC3_ENST00000369459.2_Missense_Mutation_p.K180N|BRCC3_ENST00000330045.7_Missense_Mutation_p.K180N	p.K180N	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN			7	565	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		180					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	c.540G>T	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337231	0.60963	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026	T;T;T;T;T;T	0.49720	0.83;0.84;0.77;0.86;0.88;0.86	4.68	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.929;0.996	T	0.54873	-0.8228	10	0.20046	T	0.44	-22.1552	10.1228	0.42632	0.105:0.0:0.895:0.0	.	180;180	P46736-2;P46736	.;BRCC3_HUMAN	N	181;180;180;180;156;180;180	ENSP00000344103:K181N;ENSP00000328641:K180N;ENSP00000358471:K180N;ENSP00000358474:K180N;ENSP00000413170:K156N;ENSP00000381998:K180N	ENSP00000328641:K180N	K	+	3	2	BRCC3	153972300	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.197000	0.51028	1.051000	0.40369	0.544000	0.68410	AAG		0.353	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		4	13	1	0	3.59834e-05	1	3.93264e-05	4	13				
BARX2	8538	broad.mit.edu	37	11	129246058	129246058	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:129246058C>T	ENST00000281437.4	+	1	224	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	43					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGAAACTTTCCCTCTACTCC	0.582											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000281437.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(127-129)tCc>tTc		BARX homeobox 2							154.0	167.0	162.0					11																	129246058		2201	4297	6498	SO:0001583	missense	8538							g.chr11:129246058C>T	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.128C>T	11.37:g.129246058C>T	ENSP00000281437:p.Ser43Phe		OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1571		p.S43F	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	1	224	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	43					O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	c.128C>T	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550280	0.86127	.	.	ENSG00000043039	ENST00000281437	D	0.90955	-2.76	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.92759	0.6222	10	0.56958	D	0.05	.	14.9592	0.71144	0.0:1.0:0.0:0.0	.	43	Q9UMQ3	BARX2_HUMAN	F	43	ENSP00000281437:S43F	ENSP00000281437:S43F	S	+	2	0	BARX2	128751268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.050000	0.76620	2.294000	0.77228	0.585000	0.79938	TCC		0.582	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		56	179	0	0	0	1	0	56	179				
FIBCD1	84929	broad.mit.edu	37	9	133787197	133787197	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133787197T>C	ENST00000372338.4	-	5	1170	c.928A>G	c.(928-930)Acc>Gcc	p.T310A	FIBCD1_ENST00000372337.2_Missense_Mutation_p.T152A|FIBCD1_ENST00000448616.1_Missense_Mutation_p.T310A|FIBCD1_ENST00000253018.4_Missense_Mutation_p.T152A	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	310	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TGCTCCCCGGTGAGCCTGCCA	0.667																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(928-930)Acc>Gcc		fibrinogen C domain containing 1							38.0	35.0	36.0					9																	133787197		2200	4298	6498	SO:0001583	missense	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133787197T>C	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.928A>G	9.37:g.133787197T>C	ENSP00000361413:p.Thr310Ala					FIBCD1_ENST00000372337.2_Missense_Mutation_p.T152A|FIBCD1_ENST00000253018.4_Missense_Mutation_p.T152A|FIBCD1_ENST00000448616.1_Missense_Mutation_p.T310A	p.T310A	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	5	1170	-	all_hematologic(7;0.0028)		310			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Missense_Mutation	SNP	ENST00000372338.4	37	c.928A>G	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473042	0.63737	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337;ENST00000253018	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-0.94	5.17	3.98	0.46160	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	L	0.33137	0.985	0.50039	D	0.999843	B	0.29341	0.242	B	0.37198	0.243	T	0.64223	-0.6458	10	0.13108	T	0.6	.	11.1838	0.48644	0.0:0.0:0.1534:0.8466	.	310	Q8N539	FBCD1_HUMAN	A	310;310;152;152	ENSP00000414501:T310A;ENSP00000361413:T310A;ENSP00000361412:T152A;ENSP00000253018:T152A	ENSP00000253018:T152A	T	-	1	0	FIBCD1	132777018	1.000000	0.71417	0.994000	0.49952	0.548000	0.35241	3.382000	0.52463	1.947000	0.56498	0.397000	0.26171	ACC		0.667	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		5	9	0	0	0	1	0	5	9				
SYTL2	54843	broad.mit.edu	37	11	85407247	85407247	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85407247G>T	ENST00000528231.1	-	17	2915	c.2638C>A	c.(2638-2640)Ctt>Att	p.L880I	SYTL2_ENST00000389958.3_Missense_Mutation_p.L311I|SYTL2_ENST00000527523.1_Missense_Mutation_p.L848I|SYTL2_ENST00000525423.1_Missense_Mutation_p.L1202I|SYTL2_ENST00000529581.1_Missense_Mutation_p.L322I|SYTL2_ENST00000524452.1_Missense_Mutation_p.L856I|SYTL2_ENST00000389960.4_Missense_Mutation_p.L856I|SYTL2_ENST00000354566.3_Missense_Mutation_p.L1218I|SYTL2_ENST00000533892.1_Missense_Mutation_p.L282I|SYTL2_ENST00000525702.1_Missense_Mutation_p.L322I|SYTL2_ENST00000359152.5_Missense_Mutation_p.L1726I|SYTL2_ENST00000316356.4_Missense_Mutation_p.L881I	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	880	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCAATACGAAGACCTCCCAAA	0.403																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(5176-5178)Ctt>Att		synaptotagmin-like 2							103.0	100.0	101.0					11																	85407247		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85407247G>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2638C>A	11.37:g.85407247G>T	ENSP00000431701:p.Leu880Ile					SYTL2_ENST00000527523.1_Missense_Mutation_p.L848I|SYTL2_ENST00000524452.1_Missense_Mutation_p.L856I|SYTL2_ENST00000316356.4_Missense_Mutation_p.L881I|SYTL2_ENST00000533892.1_Missense_Mutation_p.L282I|SYTL2_ENST00000528231.1_Missense_Mutation_p.L880I|SYTL2_ENST00000354566.3_Missense_Mutation_p.L1218I|SYTL2_ENST00000525423.1_Missense_Mutation_p.L1202I|SYTL2_ENST00000389960.4_Missense_Mutation_p.L856I|SYTL2_ENST00000529581.1_Missense_Mutation_p.L322I|SYTL2_ENST00000389958.3_Missense_Mutation_p.L311I|SYTL2_ENST00000525702.1_Missense_Mutation_p.L322I	p.L1726I	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	11	5175	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	880					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.5176C>A	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933603	0.73442	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452	T;T;T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.95	5.95	0.96441	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.134457	0.50627	D	0.000106	T	0.69975	0.3171	N	0.17379	0.485	0.51012	D	0.999909	P;D;D;P;P;P;B;P;B;P	0.69078	0.725;0.997;0.972;0.532;0.911;0.712;0.175;0.542;0.077;0.526	B;D;P;B;P;P;B;P;B;B	0.63877	0.444;0.919;0.823;0.343;0.674;0.493;0.316;0.55;0.075;0.254	T	0.67929	-0.5543	9	.	.	.	-17.8649	13.5695	0.61838	0.0706:0.0:0.9294:0.0	.	848;856;880;881;698;1178;1202;1218;311;282	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	I	856;1726;1218;881;322;1202;322;311;597;880;282;848;856	ENSP00000374610:L856I;ENSP00000352065:L1726I;ENSP00000346576:L1218I;ENSP00000318803:L881I;ENSP00000432996:L322I;ENSP00000432694:L1202I;ENSP00000435855:L322I;ENSP00000374608:L311I;ENSP00000435009:L597I;ENSP00000431701:L880I;ENSP00000432144:L282I;ENSP00000434010:L848I;ENSP00000435238:L856I	.	L	-	1	0	SYTL2	85084895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.960000	0.56752	2.824000	0.97209	0.655000	0.94253	CTT		0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		28	53	1	0	5.45727e-16	1	7.22369e-16	28	53				
GABBR1	2550	broad.mit.edu	37	6	29577119	29577119	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29577119C>A	ENST00000377034.4	-	15	2081	c.1746G>T	c.(1744-1746)aaG>aaT	p.K582N	GABBR1_ENST00000377012.4_Missense_Mutation_p.K465N|GABBR1_ENST00000355973.3_Missense_Mutation_p.K465N|GABBR1_ENST00000377016.4_Missense_Mutation_p.K520N|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	582					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	AGCGGAATGTCTTGATGACCA	0.527																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1744-1746)aaG>aaT		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						104.0	85.0	92.0					6																	29577119		1511	2709	4220	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29577119C>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1746G>T	6.37:g.29577119C>A	ENSP00000366233:p.Lys582Asn					GABBR1_ENST00000377012.4_Missense_Mutation_p.K465N|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Missense_Mutation_p.K465N|GABBR1_ENST00000377016.4_Missense_Mutation_p.K520N	p.K582N	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			15	2081	-			582					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1746G>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748086	0.30955	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;T	0.83419	-1.72;-1.64;-1.72;-0.5	5.93	5.93	0.95920	.	0.344653	0.32147	N	0.006503	T	0.64136	0.2571	L	0.34521	1.04	0.80722	D	1	B;B;B	0.20887	0.043;0.049;0.049	B;B;B	0.21360	0.034;0.014;0.01	T	0.60188	-0.7312	10	0.27082	T	0.32	-40.0518	12.7496	0.57300	0.1638:0.8362:0.0:0.0	.	520;582;465	Q9UBS5-3;Q9UBS5;Q5SUJ9	.;GABR1_HUMAN;.	N	465;520;465;582	ENSP00000348248:K465N;ENSP00000366215:K520N;ENSP00000366211:K465N;ENSP00000366233:K582N	ENSP00000348248:K465N	K	-	3	2	GABBR1	29685098	0.895000	0.30542	1.000000	0.80357	0.998000	0.95712	-0.060000	0.11712	2.826000	0.97356	0.655000	0.94253	AAG		0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			49	12	1	0	1.51926e-22	1	2.11298e-22	49	12				
ANXA9	8416	broad.mit.edu	37	1	150959104	150959104	+	Silent	SNP	C	C	A	rs1126954		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150959104C>A	ENST00000368947.4	+	9	1055	c.579C>A	c.(577-579)atC>atA	p.I193I		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	193					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTCTGGAATCATTGACTATA	0.502																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(577-579)atC>atA		annexin A9							98.0	101.0	100.0					1																	150959104		2203	4300	6503	SO:0001819	synonymous_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150959104C>A	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.579C>A	1.37:g.150959104C>A							p.I193I	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		9	1055	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		193					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	c.579C>A	CCDS975.2																																																																																				0.502	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		36	59	1	0	2.40579e-17	1	3.22781e-17	36	59				
HMMR	3161	broad.mit.edu	37	5	162900240	162900240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162900240G>T	ENST00000358715.3	+	8	739	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	HMMR_ENST00000432118.2_Nonsense_Mutation_p.E149*|HMMR_ENST00000353866.3_Nonsense_Mutation_p.E220*|HMMR_ENST00000393915.4_Nonsense_Mutation_p.E236*			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	235					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAAACTCTTGGAATACATCGA	0.264																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(361-363)Gaa>Taa		hyaluronan-mediated motility receptor (RHAMM)							32.0	34.0	34.0					5																	162900240		2181	4272	6453	SO:0001587	stop_gained	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162900240G>T	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.703G>T	5.37:g.162900240G>T	ENSP00000351554:p.Glu235*					HMMR_ENST00000432118.2_Nonsense_Mutation_p.E149*|HMMR_ENST00000358715.3_Nonsense_Mutation_p.E235*|HMMR_ENST00000393915.4_Nonsense_Mutation_p.E236*|HMMR_ENST00000353866.3_Nonsense_Mutation_p.E220*	p.E121*			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	8	858	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	235					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Nonsense_Mutation	SNP	ENST00000358715.3	37	c.361G>T	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709593	0.96821	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	.	.	.	5.61	4.73	0.59995	.	0.334906	0.36134	N	0.002776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-15.2641	13.1025	0.59228	0.0753:0.0:0.9247:0.0	.	.	.	.	X	121;220;220;236;212;149;235	.	ENSP00000185942:E220X	E	+	1	0	HMMR	162832818	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.398000	0.52579	2.639000	0.89480	0.655000	0.94253	GAA		0.264	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		6	15	1	0	0.00116845	1	0.00122532	6	15				
NXNL1	115861	broad.mit.edu	37	19	17571484	17571484	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17571484G>T	ENST00000301944.2	-	1	279	c.195C>A	c.(193-195)ttC>ttA	p.F65L	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	65	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						GCAGTACATAGAACTCATCTG	0.597																																						ENST00000301944.2																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(193-195)ttC>ttA		nucleoredoxin-like 1							76.0	71.0	73.0					19																	17571484		2203	4300	6503	SO:0001583	missense	115861				cell redox homeostasis	nuclear outer membrane		g.chr19:17571484G>T	BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"""thioredoxin-like 6"""	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.195C>A	19.37:g.17571484G>T	ENSP00000305631:p.Phe65Leu					CTD-2521M24.10_ENST00000594663.1_5'UTR	p.F65L	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN			1	279	-			65			Thioredoxin.		Q0QD37	Missense_Mutation	SNP	ENST00000301944.2	37	c.195C>A	CCDS12360.1	.	.	.	.	.	.	.	.	.	.	g	14.42	2.528933	0.44969	.	.	ENSG00000171773	ENST00000301944	D	0.84223	-1.82	3.92	3.92	0.45320	Thioredoxin-like fold (3);	0.238696	0.42682	D	0.000679	D	0.83783	0.5329	L	0.40543	1.245	0.47778	D	0.999516	P	0.48162	0.906	P	0.52343	0.696	T	0.80439	-0.1382	10	0.20046	T	0.44	-21.1237	13.4448	0.61134	0.0:0.0:1.0:0.0	.	65	Q96CM4	NXNL1_HUMAN	L	65	ENSP00000305631:F65L	ENSP00000305631:F65L	F	-	3	2	NXNL1	17432484	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	1.091000	0.30915	2.018000	0.59344	0.467000	0.42956	TTC		0.597	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1	NM_138454		42	74	1	0	4.14481e-20	1	5.66236e-20	42	74				
ATP12A	479	broad.mit.edu	37	13	25280568	25280568	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25280568G>T	ENST00000381946.3	+	15	2303	c.2136G>T	c.(2134-2136)caG>caT	p.Q712H	ATP12A_ENST00000218548.6_Missense_Mutation_p.Q718H|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	712					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.Q712H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCCCCCAGCAGAAGCTGATCA	0.562																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - Missense(1)	p.Q712H(1)	large_intestine(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2152-2154)caG>caT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						97.0	75.0	83.0					13																	25280568		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25280568G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2136G>T	13.37:g.25280568G>T	ENSP00000371372:p.Gln712His					ATP12A_ENST00000381946.3_Missense_Mutation_p.Q712H	p.Q718H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	15	2487	+		Lung SC(185;0.0225)|Breast(139;0.077)	712					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2154G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544556	0.65198	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96232	-3.95;-3.95	5.79	3.0	0.34707	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.95968	0.8687	L	0.37630	1.12	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94717	0.7897	10	0.87932	D	0	.	7.8015	0.29176	0.3528:0.0:0.6472:0.0	.	718;712	P54707-2;P54707	.;AT12A_HUMAN	H	718;712	ENSP00000218548:Q718H;ENSP00000371372:Q712H	ENSP00000218548:Q718H	Q	+	3	2	ATP12A	24178568	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.214000	0.42853	0.723000	0.32274	0.563000	0.77884	CAG		0.562	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		14	36	1	0	1.49906e-05	1	1.64923e-05	14	36				
ITGB8	3696	broad.mit.edu	37	7	20418911	20418911	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:20418911A>C	ENST00000222573.4	+	4	1310	c.626A>C	c.(625-627)aAt>aCt	p.N209T	ITGB8_ENST00000537992.1_Missense_Mutation_p.N74T|SNORD56_ENST00000363883.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	209	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGGATTCATAATCAATGCAGG	0.328																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(625-627)aAt>aCt		integrin, beta 8							79.0	76.0	77.0					7																	20418911		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418911A>C		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.626A>C	7.37:g.20418911A>C	ENSP00000222573:p.Asn209Thr					ITGB8_ENST00000537992.1_Missense_Mutation_p.N74T	p.N209T	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			4	1310	+			209			VWFA.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.626A>C	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727018	0.89390	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.98090	-4.71;-4.71	5.93	5.93	0.95920	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	0.983;1.0	D;D	0.91635	0.973;0.999	D	0.99790	1.1031	10	0.72032	D	0.01	-24.236	16.3709	0.83357	1.0:0.0:0.0:0.0	.	209;209	P26012;Q9BUG9	ITB8_HUMAN;.	T	74;209	ENSP00000441561:N74T;ENSP00000222573:N209T	ENSP00000222573:N209T	N	+	2	0	ITGB8	20385436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.261000	0.74972	0.528000	0.53228	AAT		0.328	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		13	19	0	0	0	1	0	13	19				
CCNT1	904	broad.mit.edu	37	12	49087243	49087243	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49087243A>C	ENST00000261900.3	-	9	1976	c.1754T>G	c.(1753-1755)tTt>tGt	p.F585C		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	585	Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGGATGATCAAACACAGCCCC	0.453																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1753-1755)tTt>tGt		cyclin T1							80.0	82.0	82.0					12																	49087243		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087243A>C	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1754T>G	12.37:g.49087243A>C	ENSP00000261900:p.Phe585Cys						p.F585C	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1976	-			585			Ser-rich.		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1754T>G	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.309344	0.23821	.	.	ENSG00000129315	ENST00000261900	T	0.17370	2.28	4.96	1.12	0.20585	.	0.539636	0.21442	N	0.074472	T	0.08044	0.0201	N	0.14661	0.345	0.25239	N	0.989765	P	0.36495	0.556	B	0.36289	0.221	T	0.19549	-1.0302	10	0.39692	T	0.17	-6.5275	4.514	0.11926	0.3993:0.0:0.0937:0.507	.	585	O60563	CCNT1_HUMAN	C	585	ENSP00000261900:F585C	ENSP00000261900:F585C	F	-	2	0	CCNT1	47373510	1.000000	0.71417	0.981000	0.43875	0.938000	0.57974	2.993000	0.49425	0.826000	0.34661	0.459000	0.35465	TTT		0.453	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		30	49	0	0	0	1	0	30	49				
KDM4C	23081	broad.mit.edu	37	9	6980999	6980999	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6980999G>A	ENST00000381309.3	+	9	1561	c.996G>A	c.(994-996)caG>caA	p.Q332Q	RP11-403H13.1_ENST00000445708.1_RNA|KDM4C_ENST00000442236.2_Silent_p.Q151Q|KDM4C_ENST00000536108.1_Silent_p.Q151Q|KDM4C_ENST00000543771.1_Silent_p.Q332Q|KDM4C_ENST00000535193.1_Silent_p.Q354Q|KDM4C_ENST00000381306.3_Silent_p.Q332Q|KDM4C_ENST00000428870.2_Silent_p.Q19Q	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	332					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ACAGATATCAGCTTTGGAAAC	0.453																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(994-996)caG>caA		lysine (K)-specific demethylase 4C							141.0	129.0	133.0					9																	6980999		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6980999G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.996G>A	9.37:g.6980999G>A						KDM4C_ENST00000428870.2_Silent_p.Q19Q|KDM4C_ENST00000543771.1_Silent_p.Q332Q|KDM4C_ENST00000535193.1_Silent_p.Q354Q|KDM4C_ENST00000442236.2_Silent_p.Q151Q|KDM4C_ENST00000381306.3_Silent_p.Q332Q|KDM4C_ENST00000536108.1_Silent_p.Q151Q	p.Q332Q	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			9	1561	+			332					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.996G>A	CCDS6471.1																																																																																				0.453	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		19	43	0	0	0	1	0	19	43				
GAA	2548	broad.mit.edu	37	17	78078718	78078718	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:78078718C>T	ENST00000302262.3	+	2	552	c.333C>T	c.(331-333)atC>atT	p.I111I	GAA_ENST00000390015.3_Silent_p.I111I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	111	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GTTGCTACATCCCTGCAAAGC	0.647																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(331-333)atC>atT		glucosidase, alpha; acid	Acarbose(DB00284)						25.0	23.0	24.0					17																	78078718		2202	4297	6499	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78078718C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.333C>T	17.37:g.78078718C>T						GAA_ENST00000390015.3_Silent_p.I111I	p.I111I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		2	552	+	all_neural(118;0.117)		111			P-type.		Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.333C>T	CCDS32760.1																																																																																				0.647	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			15	23	0	0	0	1	0	15	23				
PPFIBP2	8495	broad.mit.edu	37	11	7663587	7663587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7663587C>T	ENST00000299492.4	+	17	1964	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.R368*|PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.R383*|PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.R414*|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	526					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGCAGAGTTTCGACGAGGTGG	0.527																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1576-1578)Cga>Tga		PTPRF interacting protein, binding protein 2 (liprin beta 2)							57.0	53.0	55.0					11																	7663587		2201	4296	6497	SO:0001587	stop_gained	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7663587C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1576C>T	11.37:g.7663587C>T	ENSP00000299492:p.Arg526*					PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.R383*|PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.R414*|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.R368*|PPFIBP2_ENST00000530582.1_3'UTR	p.R526*	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	17	1964	+			526					B7Z433|E9PK77|O75337|Q8WW26	Nonsense_Mutation	SNP	ENST00000299492.4	37	c.1576C>T	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.301294|5.301294	0.95601|0.95601	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181|ENST00000534409	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.101238|.	0.42964|.	D|.	0.000640|.	.|T	.|0.63319	.|0.2501	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68712	.|-0.5336	.|3	0.05351|.	T|.	0.99|.	-9.0482|-9.0482	12.6855|12.6855	0.56946|0.56946	0.1647:0.8353:0.0:0.0|0.1647:0.8353:0.0:0.0	.|.	.|.	.|.	.|.	X|L	526;368;368;449;414;383|216	.|.	ENSP00000299492:R526X|.	R|S	+|+	1|2	2|0	PPFIBP2|PPFIBP2	7620163|7620163	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.722000|2.722000	0.47269|0.47269	2.798000|2.798000	0.96311|0.96311	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.527	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		11	21	0	0	0	1	0	11	21				
OGDHL	55753	broad.mit.edu	37	10	50952051	50952051	+	Missense_Mutation	SNP	T	T	C	rs200144529		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50952051T>C	ENST00000374103.4	-	14	1935	c.1850A>G	c.(1849-1851)aAg>aGg	p.K617R	OGDHL_ENST00000432695.1_Missense_Mutation_p.K408R|OGDHL_ENST00000419399.1_Missense_Mutation_p.K560R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	617					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGTGTGGATCTTAAAGTCCTC	0.617																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1849-1851)aAg>aGg		oxoglutarate dehydrogenase-like							83.0	74.0	77.0					10																	50952051		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50952051T>C	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1850A>G	10.37:g.50952051T>C	ENSP00000363216:p.Lys617Arg					OGDHL_ENST00000419399.1_Missense_Mutation_p.K560R|OGDHL_ENST00000432695.1_Missense_Mutation_p.K408R	p.K617R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			14	1935	-			617					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1850A>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145677	0.37923	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.06068	3.35;3.35;3.36	5.61	0.304	0.15796	.	0.338573	0.34110	N	0.004247	T	0.03739	0.0106	L	0.31926	0.97	0.37582	D	0.91986	B;B;B	0.12013	0.005;0.001;0.0	B;B;B	0.15870	0.014;0.008;0.002	T	0.43475	-0.9389	10	0.20519	T	0.43	.	2.5389	0.04721	0.117:0.1371:0.1371:0.6089	.	560;408;617	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	R	617;560;408	ENSP00000363216:K617R;ENSP00000401356:K560R;ENSP00000390240:K408R	ENSP00000363216:K617R	K	-	2	0	OGDHL	50622057	0.821000	0.29204	0.989000	0.46669	0.943000	0.58893	0.083000	0.14871	0.152000	0.19188	-0.256000	0.11100	AAG		0.617	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		16	29	0	0	0	1	0	16	29				
CD55	1604	broad.mit.edu	37	1	207495831	207495831	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207495831T>G	ENST00000367064.3	+	2	463	c.205T>G	c.(205-207)Ttt>Gtt	p.F69V	CD55_ENST00000391920.4_Missense_Mutation_p.F69V|CD55_ENST00000367063.2_Missense_Mutation_p.F69V|CD55_ENST00000391921.4_Missense_Mutation_p.F69V|CD55_ENST00000367062.4_Missense_Mutation_p.F69V|CD55_ENST00000314754.8_Missense_Mutation_p.F69V|CD55_ENST00000367065.5_Missense_Mutation_p.F69V|CD55_ENST00000367067.4_Missense_Mutation_p.F69V	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGAAGAAAGCTTTGTGAAAAT	0.448																																						ENST00000367064.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(205-207)Ttt>Gtt		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)						104.0	109.0	107.0					1																	207495831		2203	4300	6503	SO:0001583	missense	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207495831T>G	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.205T>G	1.37:g.207495831T>G	ENSP00000356031:p.Phe69Val					CD55_ENST00000314754.8_Missense_Mutation_p.F69V|CD55_ENST00000367065.5_Missense_Mutation_p.F69V|CD55_ENST00000391920.4_Missense_Mutation_p.F69V|CD55_ENST00000391921.4_Missense_Mutation_p.F69V|CD55_ENST00000367067.4_Missense_Mutation_p.F69V|CD55_ENST00000367062.4_Missense_Mutation_p.F69V|CD55_ENST00000367063.2_Missense_Mutation_p.F69V	p.F69V	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN			2	463	+			69			Sushi 1.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	c.205T>G	CCDS31006.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934268	0.73442	.	.	ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000367067;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;1.48;-0.42;-0.42;-0.42;-0.42;-0.42	5.44	5.44	0.79542	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000014	D	0.82655	0.5084	M	0.87180	2.865	0.25604	N	0.986569	D;P;D;D;D	0.71674	0.993;0.945;0.998;0.972;0.995	D;P;D;D;D	0.76071	0.936;0.87;0.987;0.926;0.982	T	0.77327	-0.2629	10	0.72032	D	0.01	.	11.9006	0.52682	0.0:0.0:0.0:1.0	.	69;69;69;69;69	B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.;.;.;DAF_HUMAN;.	V	69	ENSP00000356031:F69V;ENSP00000356030:F69V;ENSP00000375788:F69V;ENSP00000356034:F69V;ENSP00000316333:F69V;ENSP00000356032:F69V;ENSP00000375787:F69V;ENSP00000356029:F69V	ENSP00000316333:F69V	F	+	1	0	CD55	205562454	0.409000	0.25368	0.034000	0.17996	0.003000	0.03518	3.680000	0.54641	2.065000	0.61736	0.528000	0.53228	TTT		0.448	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		11	49	0	0	0	1	0	11	49				
DNAH3	55567	broad.mit.edu	37	16	20944541	20944541	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20944541T>C	ENST00000261383.3	-	62	12285	c.12286A>G	c.(12286-12288)Aca>Gca	p.T4096A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4096					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCATGTCTGTTGGAAGCTCA	0.498																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(12286-12288)Aca>Gca		dynein, axonemal, heavy chain 3							152.0	155.0	154.0					16																	20944541		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20944541T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.12286A>G	16.37:g.20944541T>C	ENSP00000261383:p.Thr4096Ala					DNAH3_ENST00000415178.1_3'UTR	p.T4096A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	62	12285	-			4096					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.12286A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054167	0.55218	.	.	ENSG00000158486	ENST00000261383	T	0.61742	0.08	5.25	5.25	0.73442	Dynein heavy chain (1);	0.074045	0.53938	D	0.000054	T	0.66086	0.2754	M	0.83953	2.67	0.80722	D	1	P	0.44309	0.832	P	0.48368	0.575	T	0.70821	-0.4768	10	0.59425	D	0.04	.	8.9664	0.35879	0.2857:0.0:0.0:0.7143	.	4096	Q8TD57	DYH3_HUMAN	A	4096	ENSP00000261383:T4096A	ENSP00000261383:T4096A	T	-	1	0	DNAH3	20852042	0.945000	0.32115	0.718000	0.30602	0.988000	0.76386	1.795000	0.38784	1.992000	0.58205	0.533000	0.62120	ACA		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		45	85	0	0	0	1	0	45	85				
SULF1	23213	broad.mit.edu	37	8	70512901	70512901	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:70512901A>G	ENST00000260128.4	+	9	1515	c.798A>G	c.(796-798)ccA>ccG	p.P266P	SULF1_ENST00000458141.2_Silent_p.P266P|SULF1_ENST00000419716.3_Silent_p.P266P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.P266P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	266					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACACAGGACCAATGCTGCCCA	0.393																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(796-798)ccA>ccG		sulfatase 1							157.0	148.0	151.0					8																	70512901		2203	4300	6503	SO:0001819	synonymous_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70512901A>G	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.798A>G	8.37:g.70512901A>G						SULF1_ENST00000458141.2_Silent_p.P266P|SULF1_ENST00000419716.3_Silent_p.P266P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.P266P	p.P266P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		9	1515	+	Breast(64;0.0654)		266					Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	c.798A>G	CCDS6204.1																																																																																				0.393	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		43	59	0	0	0	1	0	43	59				
OR2C3	81472	broad.mit.edu	37	1	247695252	247695252	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247695252G>T	ENST00000366487.3	-	2	923	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ACACAAGCCAGTTGCATAATG	0.547																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(562-564)Ctg>Atg		olfactory receptor, family 2, subfamily C, member 3							74.0	68.0	70.0					1																	247695252		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695252G>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.562C>A	1.37:g.247695252G>T	ENSP00000355443:p.Leu188Met					GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron	p.L188M	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	923	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	188					Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.562C>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007586	0.35415	.	.	ENSG00000196242	ENST00000366487	T	0.00402	7.56	3.86	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.361960	0.16323	U	0.219486	T	0.00815	0.0027	M	0.78223	2.4	0.23727	N	0.997004	D	0.89917	1.0	D	0.81914	0.995	T	0.50849	-0.8779	10	0.32370	T	0.25	.	3.6927	0.08353	0.2124:0.0:0.5952:0.1923	.	188	Q8N628	OR2C3_HUMAN	M	188	ENSP00000355443:L188M	ENSP00000355443:L188M	L	-	1	2	OR2C3	245761875	0.966000	0.33281	0.486000	0.27416	0.918000	0.54935	1.262000	0.32992	0.413000	0.25759	0.644000	0.83932	CTG		0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		15	28	1	0	2.31682e-05	1	2.54096e-05	15	28				
NAV3	89795	broad.mit.edu	37	12	78562559	78562559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78562559G>T	ENST00000397909.2	+	24	5067	c.4894G>T	c.(4894-4896)Gaa>Taa	p.E1632*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.E1455*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E1632*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E1632*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1632						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAACTAAGAGAAACCATTGA	0.403										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4894-4896)Gaa>Taa		neuron navigator 3							74.0	75.0	75.0					12																	78562559		1810	4081	5891	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78562559G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4894G>T	12.37:g.78562559G>T	ENSP00000381007:p.Glu1632*	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Nonsense_Mutation_p.E1632*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.E1455*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E1632*	p.E1632*			Q8IVL0	NAV3_HUMAN			24	5067	+			1632					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.4894G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.862260|12.862260	0.99702|0.99702	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	.|D	.|0.94966	.|-3.57	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.41294|.	U|.	0.000917|.	.|D	.|0.96065	.|0.8718	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.96010	.|0.9001	.|6	0.13853|0.87932	T|D	0.58|0	-24.083|-24.083	12.8592|12.8592	0.57903|0.57903	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	.|.	.|.	.|.	X|I	1632;1632;1632;1455;253;261|526	.|ENSP00000446644:R526I	ENSP00000228327:E1632X|ENSP00000446644:R526I	E|R	+|+	1|2	0|0	NAV3|NAV3	77086690|77086690	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	4.187000|4.187000	0.58344|0.58344	2.706000|2.706000	0.92434|0.92434	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.403	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		23	48	1	0	3.7963e-18	1	5.12524e-18	23	48				
RP11-24M17.5	0	broad.mit.edu	37	15	76073307	76073307	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:76073307A>C	ENST00000395215.3	+	0	500																											TCATTACAGAAGAGTCCAAGG	0.537																																						ENST00000395215.3																			0																																																			0							g.chr15:76073307A>C																													15.37:g.76073307A>C														0	500	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	8.441	0.850791	0.17034	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	T	0.41903	0.1179	.	.	.	.	.	.	D	0.54772	0.968	P	0.56960	0.81	T	0.46261	-0.9204	6	0.25751	T	0.34	.	2.8498	0.05554	0.5876:0.0:0.0:0.4124	.	153	B4DZE6	.	D	153	.	ENSP00000378641:E153D	E	+	3	2	AC019294.2	73860362	0.997000	0.39634	0.407000	0.26434	0.447000	0.32167	0.253000	0.18296	0.588000	0.29660	0.136000	0.15936	GAA		0.537	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			33	46	0	0	0	1	0	33	46				
NUP107	57122	broad.mit.edu	37	12	69096538	69096538	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69096538G>T	ENST00000229179.4	+	8	1035	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	NUP107_ENST00000378905.2_Nonsense_Mutation_p.E84*|NUP107_ENST00000539906.1_Nonsense_Mutation_p.E206*	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	235					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTCTGCATTAGAAGAGGAAAG	0.274																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(703-705)Gaa>Taa		nucleoporin 107kDa							85.0	87.0	87.0					12																	69096538		2203	4299	6502	SO:0001587	stop_gained	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69096538G>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.703G>T	12.37:g.69096538G>T	ENSP00000229179:p.Glu235*					NUP107_ENST00000539906.1_Nonsense_Mutation_p.E206*|NUP107_ENST00000378905.2_Nonsense_Mutation_p.E84*	p.E235*	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		8	1035	+	Breast(13;6.25e-06)		235					B4DZ67|Q6PJE1	Nonsense_Mutation	SNP	ENST00000229179.4	37	c.703G>T	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	37	6.632870	0.97722	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.1	3.23	0.37069	.	0.041972	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3919	10.7498	0.46203	0.0732:0.1325:0.7943:0.0	.	.	.	.	X	235;84;206	.	.	E	+	1	0	NUP107	67382805	1.000000	0.71417	0.998000	0.56505	0.718000	0.41266	4.268000	0.58883	0.778000	0.33520	-0.136000	0.14681	GAA		0.274	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		20	34	1	0	2.4624e-09	1	2.95225e-09	20	34				
OSBPL3	26031	broad.mit.edu	37	7	24846441	24846441	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:24846441T>C	ENST00000313367.2	-	21	2849	c.2398A>G	c.(2398-2400)Aag>Gag	p.K800E	OSBPL3_ENST00000409069.1_Missense_Mutation_p.K733E|OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.K769E|OSBPL3_ENST00000431825.2_Missense_Mutation_p.K733E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.K769E|OSBPL3_ENST00000396429.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.K764E	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	800					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AATAAAGACTTTGATGATGGA	0.368																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(2398-2400)Aag>Gag		oxysterol binding protein-like 3							139.0	131.0	134.0					7																	24846441		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24846441T>C	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2398A>G	7.37:g.24846441T>C	ENSP00000315410:p.Lys800Glu					OSBPL3_ENST00000409069.1_Missense_Mutation_p.K733E|OSBPL3_ENST00000396429.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.K769E|OSBPL3_ENST00000431825.2_Missense_Mutation_p.K733E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.K769E	p.K800E	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			21	2849	-			800					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.2398A>G	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653734	0.47362	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.68	3.17	0.36434	.	0.378699	0.31415	N	0.007687	T	0.22704	0.0548	L	0.35288	1.05	0.09310	N	1	B;B;B;B	0.34349	0.153;0.395;0.0;0.45	B;B;B;B	0.37833	0.168;0.168;0.004;0.259	T	0.11275	-1.0594	10	0.29301	T	0.29	-8.2547	8.2241	0.31558	0.0:0.0697:0.1339:0.7964	.	733;769;764;800	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	E	800;769;764;733;769;764;733	ENSP00000315410:K800E;ENSP00000315331:K769E;ENSP00000315277:K764E;ENSP00000389779:K733E;ENSP00000379708:K769E;ENSP00000379706:K764E;ENSP00000386953:K733E	ENSP00000315410:K800E	K	-	1	0	OSBPL3	24812966	0.826000	0.29277	0.193000	0.23327	0.906000	0.53458	2.715000	0.47210	0.981000	0.38548	0.454000	0.30748	AAG		0.368	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			20	54	0	0	0	1	0	20	54				
ANO1	55107	broad.mit.edu	37	11	69951871	69951871	+	Missense_Mutation	SNP	G	G	A	rs200322701		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:69951871G>A	ENST00000355303.5	+	5	1029	c.724G>A	c.(724-726)Gac>Aac	p.D242N	ANO1_ENST00000538023.1_Missense_Mutation_p.D242N|ANO1_ENST00000530676.1_Missense_Mutation_p.D126N|ANO1_ENST00000531349.1_5'Flank|ANO1_ENST00000398543.2_Missense_Mutation_p.D126N|ANO1_ENST00000316296.5_Missense_Mutation_p.D214N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	242					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TTCCTTTTTCGACAGCAAAAC	0.488																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(724-726)Gac>Aac		anoctamin 1, calcium activated chloride channel			ASN/ASP	2,3848		0,2,1923	101.0	100.0	100.0		724	5.2	1.0	11		100	0,8244		0,0,4122	yes	missense	ANO1	NM_018043.5	23	0,2,6045	AA,AG,GG		0.0,0.0519,0.0165	probably-damaging	242/987	69951871	2,12092	1925	4122	6047	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69951871G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.724G>A	11.37:g.69951871G>A	ENSP00000347454:p.Asp242Asn					ANO1_ENST00000530676.1_Missense_Mutation_p.D126N|ANO1_ENST00000398543.2_Missense_Mutation_p.D126N|ANO1_ENST00000538023.1_Missense_Mutation_p.D242N|ANO1_ENST00000316296.5_Missense_Mutation_p.D214N	p.D242N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			5	1029	+			242					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.724G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175282	0.57692	5.19E-4	0.0	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	L	0.37800	1.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	T	0.65561	-0.6138	9	.	.	.	.	17.7725	0.88497	0.0:0.0:1.0:0.0	.	214;242	Q5XXA6-3;Q5XXA6	.;ANO1_HUMAN	N	242;242;126;26;209;214;126	ENSP00000347454:D242N;ENSP00000444689:D242N;ENSP00000381551:D126N;ENSP00000436392:D209N;ENSP00000319477:D214N;ENSP00000435797:D126N	.	D	+	1	0	ANO1	69629519	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	8.975000	0.93437	2.437000	0.82529	0.650000	0.86243	GAC		0.488	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		18	28	0	0	0	1	0	18	28				
FAM135A	57579	broad.mit.edu	37	6	71245997	71245997	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71245997C>T	ENST00000418814.2	+	19	4614	c.4000C>T	c.(4000-4002)Cgt>Tgt	p.R1334C	FAM135A_ENST00000361499.3_Missense_Mutation_p.R1138C|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1121C|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1334C|FAM135A_ENST00000370479.3_Missense_Mutation_p.R1121C|FAM135A_ENST00000505769.1_Missense_Mutation_p.R914C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1334										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTTAATAATTCGTTCAGTGCT	0.343																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(4000-4002)Cgt>Tgt		family with sequence similarity 135, member A							127.0	129.0	129.0					6																	71245997		2202	4299	6501	SO:0001583	missense	57579							g.chr6:71245997C>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.4000C>T	6.37:g.71245997C>T	ENSP00000410768:p.Arg1334Cys					FAM135A_ENST00000370479.3_Missense_Mutation_p.R1121C|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1138C|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1334C|FAM135A_ENST00000505769.1_Missense_Mutation_p.R914C|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1121C	p.R1334C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			19	4614	+			1334					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.4000C>T	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062890	0.93898	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.51	5.51	0.81932	Domain of unknown function DUF676, lipase-like (1);	0.054621	0.64402	D	0.000001	T	0.77605	0.4155	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.99;0.991;1.0;1.0;0.999	T	0.83086	-0.0135	10	0.87932	D	0	.	19.4777	0.94995	0.0:1.0:0.0:0.0	.	914;1334;1334;1138;1121	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	C	1334;1121;914;1121;1138;1334	ENSP00000410768:R1334C;ENSP00000359510:R1121C;ENSP00000423785:R914C;ENSP00000409201:R1121C;ENSP00000354913:R1138C;ENSP00000423307:R1334C	ENSP00000354913:R1138C	R	+	1	0	FAM135A	71302718	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.740000	0.84986	2.575000	0.86900	0.585000	0.79938	CGT		0.343	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		18	30	0	0	0	1	0	18	30				
MIR17HG	407975	broad.mit.edu	37	13	92003483	92003483	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:92003483C>T	ENST00000362310.2	+	0	184				MIR17HG_ENST00000385233.2_RNA|MIR17HG_ENST00000384878.1_RNA|MIR17HG_ENST00000385012.1_RNA|MIR17HG_ENST00000384829.1_RNA|MIR17HG_ENST00000362279.1_RNA	NR_029488.1		Q75NE6	MIRH1_HUMAN	miR-17-92 cluster host gene (non-protein coding)							integral component of membrane (GO:0016021)											TTGCATCCAGCTGTGTGATAT	0.448																																						ENST00000384829.1																			0																				253.0	218.0	229.0					13																	92003483		1568	3582	5150			0							g.chr13:92003483C>T	AB176707		13q31.3	2014-07-18	2011-02-14	2009-07-24	ENSG00000215417	ENSG00000215417		"""-"""	23564	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 48"", ""long intergenic non-protein coding RNA 48"""	609415	"""chromosome 13 open reading frame 25"", ""microRNA host gene 1 (non-protein coding)"", ""MIR17 host gene (non-protein coding)"""	C13orf25, MIRHG1		15126345, 15944707, 16266980, 17210683, 23551855	Standard	NR_027349		Approved	FLJ14178, MIRH1, MIHG1, NCRNA00048, miR-17-92, LINC00048	uc010tie.1	Q75NE6	OTTHUMG00000017195		13.37:g.92003483C>T								NR_029490.1						0	38	+								A4QMU7|Q75NE7	RNA	SNP	ENST00000362310.2	37																																																																																						0.448	MIR17HG-202	KNOWN	basic	miRNA	processed_transcript		NR_027349		6	126	0	0	0	1	0	6	126				
RPUSD3	285367	broad.mit.edu	37	3	9883747	9883747	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:9883747C>T	ENST00000383820.5	-	4	328	c.327G>A	c.(325-327)acG>acA	p.T109T	RPUSD3_ENST00000424438.1_Silent_p.T77T|RPUSD3_ENST00000485705.1_5'UTR|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Silent_p.T94T	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	109					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					CTGAGAACAACGTCAGCTCTC	0.522																																						ENST00000383820.5																			0				central_nervous_system(2)|endometrium(3)|lung(2)	7						c.(325-327)acG>acA		RNA pseudouridylate synthase domain containing 3							128.0	127.0	127.0					3																	9883747		2203	4300	6503	SO:0001819	synonymous_variant	285367				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr3:9883747C>T	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.327G>A	3.37:g.9883747C>T						TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_Silent_p.T77T|RPUSD3_ENST00000485705.1_5'UTR|RPUSD3_ENST00000433535.2_Silent_p.T94T	p.T109T	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN			4	328	-	Medulloblastoma(99;0.227)		109					B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Silent	SNP	ENST00000383820.5	37	c.327G>A	CCDS2586.2	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.534889	0.00942	.	.	ENSG00000156990	ENST00000427174;ENST00000433555	.	.	.	5.12	-10.2	0.00374	.	.	.	.	.	T	0.41766	0.1173	.	.	.	0.47819	D	0.999528	.	.	.	.	.	.	T	0.59658	-0.7413	4	.	.	.	.	4.6112	0.12404	0.2943:0.4235:0.0741:0.2081	.	.	.	.	H	100;51	.	.	R	-	2	0	RPUSD3	9858747	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-9.422000	0.00011	-4.872000	0.00029	-1.119000	0.02030	CGT		0.522	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1	NM_173659		72	94	0	0	0	1	0	72	94				
PRDM1	639	broad.mit.edu	37	6	106552805	106552805	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:106552805A>G	ENST00000369096.4	+	5	1004	c.770A>G	c.(769-771)gAc>gGc	p.D257G	PRDM1_ENST00000369091.2_Missense_Mutation_p.D221G|PRDM1_ENST00000369089.3_Missense_Mutation_p.D123G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	257					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CTAAAATTGGACTCCAACCCC	0.468			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(769-771)gAc>gGc		PR domain containing 1, with ZNF domain							227.0	243.0	238.0					6																	106552805		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106552805A>G		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.770A>G	6.37:g.106552805A>G	ENSP00000358092:p.Asp257Gly					PRDM1_ENST00000369089.3_Missense_Mutation_p.D123G|PRDM1_ENST00000369091.2_Missense_Mutation_p.D221G	p.D257G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1004	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	257					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.770A>G	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803190	0.31869	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;T;T	0.58506	3.13;3.09;0.33;3.11	5.59	5.59	0.84812	.	0.189976	0.47852	D	0.000208	T	0.36771	0.0979	L	0.57536	1.79	0.22446	N	0.999099	P;P	0.40144	0.704;0.704	B;B	0.36134	0.218;0.154	T	0.38993	-0.9635	10	0.54805	T	0.06	-45.8864	11.7265	0.51712	0.8527:0.1473:0.0:0.0	.	123;257	Q86WM7;O75626	.;PRDM1_HUMAN	G	221;257;221;136;123	ENSP00000358087:D221G;ENSP00000358092:D257G;ENSP00000399772:D136G;ENSP00000358085:D123G	ENSP00000358085:D123G	D	+	2	0	PRDM1	106659498	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	4.555000	0.60767	2.134000	0.65973	0.533000	0.62120	GAC		0.468	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			10	390	0	0	0	1	0	10	390				
PPP1R8	5511	broad.mit.edu	37	1	28167551	28167551	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:28167551C>T	ENST00000311772.5	+	4	356	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	100	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CDC5L, SF3B1 and MELK.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTCACATTCGGTTGGAACC	0.478																																						ENST00000311772.5																			0				breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(298-300)Cgg>Tgg		protein phosphatase 1, regulatory subunit 8							140.0	139.0	139.0					1																	28167551		2203	4300	6503	SO:0001583	missense	5511				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding	g.chr1:28167551C>T	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.298C>T	1.37:g.28167551C>T	ENSP00000311677:p.Arg100Trp					PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	p.R100W	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	4	356	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	100			FHA.|Interaction with CDC5L, SF3B1 and MELK.		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	ENST00000311772.5	37	c.298C>T	CCDS311.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798448	0.90538	.	.	ENSG00000117751	ENST00000311772;ENST00000434313	D	0.89746	-2.56	5.58	4.65	0.58169	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97344	0.9959	10	0.87932	D	0	-8.312	15.6807	0.77367	0.1383:0.8617:0.0:0.0	.	100	Q12972	PP1R8_HUMAN	W	100	ENSP00000311677:R100W	ENSP00000311677:R100W	R	+	1	2	PPP1R8	28040138	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.666000	0.83877	1.331000	0.45412	0.561000	0.74099	CGG		0.478	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		38	78	0	0	0	1	0	38	78				
EDRF1	26098	broad.mit.edu	37	10	127418874	127418874	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127418874T>G	ENST00000356792.4	+	9	1266	c.1034T>G	c.(1033-1035)aTt>aGt	p.I345S	C10orf137_ENST00000337623.3_Missense_Mutation_p.I311S	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACAAACCAATTAATGTGCTA	0.308																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(931-933)aTt>aGt		chromosome 10 open reading frame 137							210.0	199.0	203.0					10																	127418874		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127418874T>G																												ENST00000356792.4:c.1034T>G	10.37:g.127418874T>G	ENSP00000349244:p.Ile345Ser					C10orf137_ENST00000356792.4_Missense_Mutation_p.I345S	p.I311S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			8	1037	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	345					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.932T>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.343886	0.82022	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.12774	2.65;2.65	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.994;0.996	T	0.33445	-0.9868	10	0.87932	D	0	.	15.6709	0.77274	0.0:0.0:0.0:1.0	.	345;311;345	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	S	345;345;311	ENSP00000349244:I345S;ENSP00000336727:I311S	ENSP00000336727:I311S	I	+	2	0	C10orf137	127408864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.099000	0.63709	0.482000	0.46254	ATT		0.308	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			15	53	0	0	0	1	0	15	53				
DCAF12	25853	broad.mit.edu	37	9	34088497	34088497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34088497C>A	ENST00000361264.4	-	9	1554	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	405					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTCCAGGTTTCATCATGATTC	0.483																																						ENST00000361264.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1213-1215)Gaa>Taa		DDB1 and CUL4 associated factor 12							145.0	140.0	142.0					9																	34088497		2203	4300	6503	SO:0001587	stop_gained	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34088497C>A	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.1213G>T	9.37:g.34088497C>A	ENSP00000355114:p.Glu405*					RP11-537H15.3_ENST00000448245.1_RNA	p.E405*	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN			9	1554	-			405					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Nonsense_Mutation	SNP	ENST00000361264.4	37	c.1213G>T	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	40	8.511611	0.98843	.	.	ENSG00000198876	ENST00000361264	.	.	.	5.11	5.11	0.69529	.	0.111799	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.948	18.532	0.90996	0.0:1.0:0.0:0.0	.	.	.	.	X	405	.	ENSP00000355114:E405X	E	-	1	0	DCAF12	34078497	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.330000	0.79181	2.374000	0.81015	0.655000	0.94253	GAA		0.483	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		38	71	1	0	1.60099e-16	1	2.13174e-16	38	71				
ABO	28	broad.mit.edu	37	9	136135231	136135231	+	RNA	SNP	C	C	T	rs371449103		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136135231C>T	ENST00000453660.2	-	0	206							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		ACCTTGGCAACGAGACATGCT	0.517																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)		C		0,4252		0,0,2126	110.0	107.0	108.0		195	-2.6	0.0	9		108	1,8461		0,1,4230	no	coding-synonymous	ABO	NM_020469.2		0,1,6356	TT,TC,CC		0.0118,0.0,0.0079		65/355	136135231	1,12713	2126	4231	6357			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136135231C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136135231C>T										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	206	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.517	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		11	70	0	0	0	1	0	11	70				
LRRK2	120892	broad.mit.edu	37	12	40668394	40668394	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40668394A>C	ENST00000298910.7	+	15	1724	c.1666A>C	c.(1666-1668)Aat>Cat	p.N556H	LRRK2_ENST00000343742.2_Missense_Mutation_p.N556H	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	556					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTCATTGGAAATCCTGGGAT	0.318																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(1666-1668)Aat>Cat		leucine-rich repeat kinase 2							118.0	122.0	120.0					12																	40668394		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40668394A>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1666A>C	12.37:g.40668394A>C	ENSP00000298910:p.Asn556His					LRRK2_ENST00000343742.2_Missense_Mutation_p.N556H	p.N556H	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			15	1724	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	556					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1666A>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.725111	0.30593	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.65732	-0.17;-0.17;-0.17	6.07	6.07	0.98685	Armadillo-like helical (1);Armadillo-type fold (1);	0.043892	0.85682	D	0.000000	T	0.49762	0.1576	L	0.29908	0.895	0.29937	N	0.821361	B;B	0.14012	0.009;0.001	B;B	0.09377	0.004;0.002	T	0.49881	-0.8892	10	0.40728	T	0.16	.	11.9544	0.52973	0.7355:0.2645:0.0:0.0	.	556;556	E9PC85;Q5S007	.;LRRK2_HUMAN	H	304;556;556	ENSP00000398726:N304H;ENSP00000341930:N556H;ENSP00000298910:N556H	ENSP00000298910:N556H	N	+	1	0	LRRK2	38954661	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.511000	0.53400	2.326000	0.78906	0.533000	0.62120	AAT		0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		15	52	0	0	0	1	0	15	52				
SCN9A	6335	broad.mit.edu	37	2	167149755	167149755	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167149755T>G	ENST00000409435.1	-	8	1092	c.1093A>C	c.(1093-1095)Aac>Cac	p.N365H	SCN9A_ENST00000375387.4_Missense_Mutation_p.N366H|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.N365H|SCN9A_ENST00000303354.6_Missense_Mutation_p.N366H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	365					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGTAAAGGTTTTCCCAGTAA	0.408																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1096-1098)Aac>Cac		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						38.0	39.0	39.0					2																	167149755		1946	4165	6111	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167149755T>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1093A>C	2.37:g.167149755T>G	ENSP00000386330:p.Asn365His					SCN9A_ENST00000409672.1_Missense_Mutation_p.N365H|SCN9A_ENST00000409435.1_Missense_Mutation_p.N365H|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.N366H	p.N366H			Q15858	SCN9A_HUMAN			9	1436	-			365					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1096A>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572912	0.86542	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	5.88	5.88	0.94601	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98994	0.9657	H	0.96547	3.84	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.993;0.999;0.99	D	0.99466	1.0944	10	0.72032	D	0.01	.	16.275	0.82640	0.0:0.0:0.0:1.0	.	365;365;366	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	H	365;366;366;365;230;230	ENSP00000386306:N365H;ENSP00000364536:N366H;ENSP00000304748:N366H;ENSP00000386330:N365H;ENSP00000413212:N230H;ENSP00000393141:N230H	ENSP00000304748:N366H	N	-	1	0	SCN9A	166858001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.092000	0.64511	2.248000	0.74166	0.477000	0.44152	AAC		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		5	8	0	0	0	1	0	5	8				
TRANK1	9881	broad.mit.edu	37	3	36875328	36875328	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36875328C>T	ENST00000429976.2	-	21	5861	c.5614G>A	c.(5614-5616)Gca>Aca	p.A1872T	TRANK1_ENST00000428977.2_Missense_Mutation_p.A1322T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1322T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1872							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGATACTTTGCTGCAGCTTCC	0.433																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5614-5616)Gca>Aca		tetratricopeptide repeat and ankyrin repeat containing 1							106.0	101.0	102.0					3																	36875328		1883	4107	5990	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36875328C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5614G>A	3.37:g.36875328C>T	ENSP00000416168:p.Ala1872Thr					TRANK1_ENST00000428977.2_Missense_Mutation_p.A1322T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1322T	p.A1872T			O15050	TRNK1_HUMAN			21	5861	-			1872					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.5614G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825373	0.71143	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35048	1.33;1.74;1.33	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000032	T	0.49474	0.1559	L	0.32530	0.975	0.50313	D	0.999868	D	0.89917	1.0	D	0.80764	0.994	T	0.26538	-1.0100	10	0.21540	T	0.41	.	19.2867	0.94077	0.0:1.0:0.0:0.0	.	1872	O15050	TRNK1_HUMAN	T	1322;1872;1322	ENSP00000416826:A1322T;ENSP00000416168:A1872T;ENSP00000301807:A1322T	ENSP00000301807:A1322T	A	-	1	0	TRANK1	36850332	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.987000	0.56944	2.638000	0.89438	0.549000	0.68633	GCA		0.433	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		33	65	0	0	0	1	0	33	65				
GRIA3	2892	broad.mit.edu	37	X	122460031	122460031	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122460031C>T	ENST00000371251.1	+	4	715	c.663C>T	c.(661-663)tgC>tgT	p.C221C	GRIA3_ENST00000541091.1_Silent_p.C205C|GRIA3_ENST00000542149.1_Silent_p.C221C|GRIA3_ENST00000264357.5_Silent_p.C221C|GRIA3_ENST00000371256.5_Silent_p.C221C			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	221					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TGATTGACTGCGAAGTCGAAA	0.418																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(661-663)tgC>tgT		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						133.0	113.0	120.0					X																	122460031		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122460031C>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.663C>T	X.37:g.122460031C>T						GRIA3_ENST00000542149.1_Silent_p.C221C|GRIA3_ENST00000371251.1_Silent_p.C221C|GRIA3_ENST00000541091.1_Silent_p.C205C|GRIA3_ENST00000371256.5_Silent_p.C221C	p.C221C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			4	955	+			221					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.663C>T	CCDS14604.1																																																																																				0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		43	61	0	0	0	1	0	43	61				
ZNF43	7594	broad.mit.edu	37	19	21992001	21992001	+	Missense_Mutation	SNP	G	G	A	rs199618668		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21992001G>A	ENST00000354959.4	-	4	1007	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	ZNF43_ENST00000595461.1_Missense_Mutation_p.R274C|ZNF43_ENST00000598381.1_Missense_Mutation_p.R274C|ZNF43_ENST00000594012.1_Missense_Mutation_p.R274C	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTCCAGTGCGAATTATCTTA	0.333																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(820-822)Cgc>Tgc		zinc finger protein 43							55.0	59.0	58.0					19																	21992001		2203	4299	6502	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992001G>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.838C>T	19.37:g.21992001G>A	ENSP00000347045:p.Arg280Cys					ZNF43_ENST00000595461.1_Missense_Mutation_p.R274C|ZNF43_ENST00000354959.4_Missense_Mutation_p.R280C|ZNF43_ENST00000598381.1_Missense_Mutation_p.R274C	p.R274C	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1334	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	280					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.820C>T	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369023	0.24771	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.28255	1.62	1.54	1.54	0.23209	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17492	0.0420	N	0.12502	0.225	0.32962	D	0.521145	B	0.02656	0.0	B	0.01281	0.0	T	0.16512	-1.0400	9	0.72032	D	0.01	.	9.9829	0.41824	0.0:0.0:1.0:0.0	.	280	P17038	ZNF43_HUMAN	C	279;280	ENSP00000347045:R280C	ENSP00000347045:R280C	R	-	1	0	ZNF43	21783841	0.974000	0.33945	0.001000	0.08648	0.033000	0.12548	2.154000	0.42291	0.833000	0.34828	0.195000	0.17529	CGC		0.333	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		19	31	0	0	0	1	0	19	31				
CXorf22	170063	broad.mit.edu	37	X	35988963	35988963	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35988963G>A	ENST00000297866.5	+	11	1959	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	631										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACAGCAAAAGAAATTACATG	0.308																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1891-1893)aaG>aaA		chromosome X open reading frame 22							40.0	35.0	37.0					X																	35988963		2202	4293	6495	SO:0001819	synonymous_variant	170063							g.chrX:35988963G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1893G>A	X.37:g.35988963G>A							p.K631K	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			11	1959	+			631					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.1893G>A	CCDS14237.2																																																																																				0.308	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		5	16	0	0	0	1	0	5	16				
UPF2	26019	broad.mit.edu	37	10	12071012	12071012	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:12071012T>G	ENST00000356352.2	-	2	1350	c.877A>C	c.(877-879)Aat>Cat	p.N293H	UPF2_ENST00000397053.2_Missense_Mutation_p.N293H|UPF2_ENST00000357604.5_Missense_Mutation_p.N293H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	293	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAATAATATTTTTTAGCTGT	0.378																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(877-879)Aat>Cat		UPF2 regulator of nonsense transcripts homolog (yeast)							61.0	61.0	61.0					10																	12071012		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12071012T>G	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.877A>C	10.37:g.12071012T>G	ENSP00000348708:p.Asn293His					UPF2_ENST00000397053.2_Missense_Mutation_p.N293H|UPF2_ENST00000357604.5_Missense_Mutation_p.N293H	p.N293H			Q9HAU5	RENT2_HUMAN			2	1350	-		Renal(717;0.228)	293			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.877A>C	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.237428	0.22711	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.21734	1.99;1.99;1.99	6.17	5.03	0.67393	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.199552	0.51477	D	0.000091	T	0.27098	0.0664	L	0.36672	1.1	0.50632	D	0.999885	D;B	0.59767	0.986;0.191	P;B	0.56865	0.808;0.044	T	0.01578	-1.1320	10	0.15952	T	0.53	.	12.6751	0.56889	0.0:0.065:0.0:0.935	.	263;293	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	H	293;293;263;293;263	ENSP00000348708:N293H;ENSP00000350221:N293H;ENSP00000380244:N293H	ENSP00000313617:N263H	N	-	1	0	UPF2	12111018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.249000	0.72427	2.371000	0.80710	0.533000	0.62120	AAT		0.378	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			22	26	0	0	0	1	0	22	26				
RNF20	56254	broad.mit.edu	37	9	104316985	104316985	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104316985C>A	ENST00000389120.3	+	15	2119	c.2029C>A	c.(2029-2031)Cta>Ata	p.L677I		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	677					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GTTGGAAGATCTAAGGCAAAG	0.363																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2029-2031)Cta>Ata		ring finger protein 20, E3 ubiquitin protein ligase							60.0	61.0	61.0					9																	104316985		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104316985C>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2029C>A	9.37:g.104316985C>A	ENSP00000373772:p.Leu677Ile						p.L677I	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	15	2119	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	677					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2029C>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412687	0.62511	.	.	ENSG00000155827	ENST00000389120	T	0.45668	0.89	5.55	3.69	0.42338	.	0.063292	0.64402	D	0.000004	T	0.49304	0.1549	M	0.62088	1.915	0.58432	D	0.999999	P	0.45283	0.855	P	0.51355	0.667	T	0.44003	-0.9356	10	0.49607	T	0.09	-6.5843	9.4334	0.38624	0.0:0.7623:0.0:0.2377	.	677	Q5VTR2	BRE1A_HUMAN	I	677	ENSP00000373772:L677I	ENSP00000373772:L677I	L	+	1	2	RNF20	103356806	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	3.025000	0.49681	0.686000	0.31488	0.561000	0.74099	CTA		0.363	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		10	24	1	0	0.00829132	1	0.00855608	10	24				
TNIP3	79931	broad.mit.edu	37	4	122078361	122078361	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122078361C>A	ENST00000509841.1	-	7	560	c.482G>T	c.(481-483)aGa>aTa	p.R161I	TNIP3_ENST00000057513.3_Missense_Mutation_p.R84I|TNIP3_ENST00000454328.1_Missense_Mutation_p.R84I|TNIP3_ENST00000507879.1_Missense_Mutation_p.R154I	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GCTGAGGAATCTTTCCGCGGC	0.587																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(250-252)aGa>aTa		TNFAIP3 interacting protein 3							212.0	232.0	225.0					4																	122078361		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122078361C>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.482G>T	4.37:g.122078361C>A	ENSP00000426613:p.Arg161Ile					TNIP3_ENST00000507879.1_Missense_Mutation_p.R154I|TNIP3_ENST00000057513.3_Missense_Mutation_p.R84I|TNIP3_ENST00000509841.1_Missense_Mutation_p.R161I	p.R84I			Q96KP6	TNIP3_HUMAN			6	478	-			84						Missense_Mutation	SNP	ENST00000509841.1	37	c.251G>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124248	0.37533	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.16	2.35	0.29111	.	0.464644	0.23038	N	0.052657	T	0.70605	0.3243	M	0.68952	2.095	0.09310	N	1	D;D;B	0.71674	0.998;0.994;0.114	D;P;B	0.72075	0.976;0.808;0.032	T	0.57774	-0.7753	10	0.48119	T	0.1	-0.2459	5.0205	0.14358	0.0:0.6637:0.2172:0.1191	.	154;84;84	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	I	84;84;154;161	ENSP00000057513:R84I;ENSP00000411817:R84I;ENSP00000427106:R154I;ENSP00000426613:R161I	ENSP00000057513:R84I	R	-	2	0	TNIP3	122297811	0.000000	0.05858	0.001000	0.08648	0.128000	0.20619	0.228000	0.17814	0.658000	0.30925	0.484000	0.47621	AGA		0.587	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		85	283	1	0	2.56221e-42	1	3.70845e-42	85	283				
PSMA7	5688	broad.mit.edu	37	20	60713283	60713283	+	Missense_Mutation	SNP	C	C	T	rs12041		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:60713283C>T	ENST00000370873.4	-	5	661	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_Missense_Mutation_p.E109K	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	179					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCAATGGCTTCGTCAGTATAG	0.493																																						ENST00000370873.4																			0				large_intestine(1)|lung(2)	3						c.(535-537)Gaa>Aaa		proteasome (prosome, macropain) subunit, alpha type, 7							206.0	133.0	158.0					20																	60713283		2203	4300	6503	SO:0001583	missense	5688				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr20:60713283C>T	AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.535G>A	20.37:g.60713283C>T	ENSP00000359910:p.Glu179Lys					PSMA7_ENST00000370861.1_Missense_Mutation_p.E109K|PSMA7_ENST00000484488.1_5'UTR	p.E179K	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		5	661	-	Breast(26;3.97e-09)		179					B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Missense_Mutation	SNP	ENST00000370873.4	37	c.535G>A	CCDS13489.1	.	.	.	.	.	.	.	.	.	.	.	15.97	2.989605	0.53934	.	.	ENSG00000101182	ENST00000370873;ENST00000370861	T;T	0.23950	1.88;1.88	5.12	4.18	0.49190	.	0.182422	0.64402	N	0.000017	T	0.30634	0.0771	M	0.72576	2.205	0.80722	D	1	B	0.25351	0.124	B	0.24394	0.053	T	0.13602	-1.0503	10	0.62326	D	0.03	.	13.631	0.62196	0.0:0.925:0.0:0.075	rs12041;rs11552071;rs12041	179	O14818	PSA7_HUMAN	K	179;109	ENSP00000359910:E179K;ENSP00000359898:E109K	ENSP00000359898:E109K	E	-	1	0	PSMA7	60146678	1.000000	0.71417	0.381000	0.26106	0.672000	0.39443	7.479000	0.81095	1.177000	0.42855	0.563000	0.77884	GAA		0.493	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079975.1	NM_002792		25	29	0	0	0	1	0	25	29				
PNLIPRP1	5407	broad.mit.edu	37	10	118359564	118359564	+	Missense_Mutation	SNP	C	C	T	rs199754358		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118359564C>T	ENST00000528052.1	+	9	891	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R274W|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R274W			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	274					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCCAGGAACCCGGGACTTTGT	0.488																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(820-822)Cgg>Tgg		pancreatic lipase-related protein 1							106.0	112.0	110.0					10																	118359564		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118359564C>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.820C>T	10.37:g.118359564C>T	ENSP00000433933:p.Arg274Trp					PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R274W|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R274W	p.R274W			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	9	891	+			274					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.820C>T	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464481	0.26335	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	D;D;D	0.91124	-2.79;-2.79;-2.79	5.22	1.07	0.20283	Lipase, N-terminal (1);	0.505731	0.18928	N	0.127291	D	0.92512	0.7622	M	0.85777	2.775	0.80722	D	1	D	0.69078	0.997	P	0.54965	0.765	D	0.89512	0.3772	10	0.62326	D	0.03	-2.8247	6.2491	0.20835	0.2608:0.5942:0.0:0.145	.	274	P54315	LIPR1_HUMAN	W	274	ENSP00000351695:R274W;ENSP00000433933:R274W;ENSP00000434159:R274W	ENSP00000351695:R274W	R	+	1	2	PNLIPRP1	118349554	0.999000	0.42202	0.941000	0.38009	0.972000	0.66771	0.950000	0.29122	-0.002000	0.14469	0.655000	0.94253	CGG		0.488	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		26	71	0	0	0	1	0	26	71				
MPP4	58538	broad.mit.edu	37	2	202510091	202510091	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202510091T>A	ENST00000409474.3	-	22	1963	c.1756A>T	c.(1756-1758)Aga>Tga	p.R586*	MPP4_ENST00000315506.7_Nonsense_Mutation_p.R542*|TMEM237_ENST00000409444.2_5'Flank|MPP4_ENST00000359962.5_Nonsense_Mutation_p.R586*|MPP4_ENST00000409143.1_Nonsense_Mutation_p.R528*|MPP4_ENST00000396886.3_Nonsense_Mutation_p.R511*|TMEM237_ENST00000409883.2_5'Flank|MPP4_ENST00000447335.2_Nonsense_Mutation_p.R579*|MPP4_ENST00000428900.2_Nonsense_Mutation_p.R562*|RNU6-651P_ENST00000411040.1_RNA	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	586	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						GTTTCCATTCTTTGGGCTAAA	0.378																																						ENST00000409474.3																			0				kidney(1)|lung(11)	12						c.(1756-1758)Aga>Tga		membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)							64.0	65.0	65.0					2																	202510091		1865	4106	5971	SO:0001587	stop_gained	58538					cytoplasm	protein binding	g.chr2:202510091T>A	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1756A>T	2.37:g.202510091T>A	ENSP00000387278:p.Arg586*					MPP4_ENST00000428900.2_Nonsense_Mutation_p.R562*|MPP4_ENST00000447335.2_Nonsense_Mutation_p.R579*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.R542*|MPP4_ENST00000359962.5_Nonsense_Mutation_p.R586*|MPP4_ENST00000396886.3_Nonsense_Mutation_p.R511*|MPP4_ENST00000409143.1_Nonsense_Mutation_p.R528*	p.R586*	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN			22	1963	-			586			Guanylate kinase-like.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Nonsense_Mutation	SNP	ENST00000409474.3	37	c.1756A>T	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	T	39	7.296291	0.98192	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	.	.	.	5.38	5.38	0.77491	.	0.180058	0.47093	D	0.000246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	15.4125	0.74937	0.0:0.0:0.0:1.0	.	.	.	.	X	586;542;511;586;551;515;562;528;579	.	ENSP00000319363:R542X	R	-	1	2	MPP4	202218336	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.604000	0.61112	2.035000	0.60131	0.533000	0.62120	AGA		0.378	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			5	35	0	0	0	1	0	5	35				
ERCC4	2072	broad.mit.edu	37	16	14029408	14029408	+	Missense_Mutation	SNP	C	C	T	rs368830992		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:14029408C>T	ENST00000311895.7	+	8	1628	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	540					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AATTTGTCATCGGATGCTGCT	0.468			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1618-1620)tCg>tTg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4		C	LEU/SER	0,4394		0,0,2197	61.0	64.0	63.0		1619	5.1	0.1	16		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERCC4	NM_005236.2	145	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	540/917	14029408	1,12993	2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029408C>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1619C>T	16.37:g.14029408C>T	ENSP00000310520:p.Ser540Leu					CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	p.S540L	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			8	1628	+			540					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1619C>T	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016534	0.75161	0.0	1.16E-4	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.60171	0.21	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	L	0.52126	1.63	0.80722	D	1	D	0.60160	0.987	P	0.46885	0.53	T	0.56378	-0.7989	10	0.28530	T	0.3	-19.3108	17.9232	0.88973	0.0:1.0:0.0:0.0	.	540	Q92889	XPF_HUMAN	L	540;529	ENSP00000310520:S540L	ENSP00000310520:S540L	S	+	2	0	ERCC4	13936909	1.000000	0.71417	0.055000	0.19348	0.663000	0.39108	7.445000	0.80570	2.533000	0.85409	0.591000	0.81541	TCG		0.468	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		30	56	0	0	0	1	0	30	56				
LMX1B	4010	broad.mit.edu	37	9	129453169	129453169	+	Silent	SNP	C	C	T	rs540034621		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:129453169C>T	ENST00000373474.4	+	3	388	c.381C>T	c.(379-381)ttC>ttT	p.F127F	LMX1B_ENST00000561065.1_Silent_p.F104F|LMX1B_ENST00000526117.1_Silent_p.F127F|LMX1B_ENST00000425646.2_Silent_p.F104F|LMX1B_ENST00000355497.5_Silent_p.F127F			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	127	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CCACCGAGTTCGTGATGCGGG	0.637									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(379-381)ttC>ttT		LIM homeobox transcription factor 1, beta							57.0	50.0	52.0					9																	129453169		2203	4300	6503	SO:0001819	synonymous_variant	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129453169C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.381C>T	9.37:g.129453169C>T						LMX1B_ENST00000373474.4_Silent_p.F127F|LMX1B_ENST00000561065.1_Silent_p.F104F|LMX1B_ENST00000425646.2_Silent_p.F104F|LMX1B_ENST00000526117.1_Silent_p.F127F	p.F127F	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			3	388	+			104			LIM zinc-binding 2.		F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.381C>T	CCDS55342.1																																																																																				0.637	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			16	23	0	0	0	1	0	16	23				
STK24	8428	broad.mit.edu	37	13	99127579	99127579	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:99127579C>T	ENST00000376547.3	-	4	545	c.400G>A	c.(400-402)Gct>Act	p.A134T	STK24_ENST00000397517.2_Missense_Mutation_p.A122T|STK24_ENST00000539966.1_Missense_Mutation_p.A103T	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AATATAGTAGCGATCTGGGTT	0.333																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(364-366)Gct>Act		serine/threonine kinase 24							82.0	82.0	82.0					13																	99127579		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99127579C>T	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.400G>A	13.37:g.99127579C>T	ENSP00000365730:p.Ala134Thr					STK24_ENST00000539966.1_Missense_Mutation_p.A103T|STK24_ENST00000376547.3_Missense_Mutation_p.A134T	p.A122T	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		4	440	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		134			Protein kinase.		O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.364G>A	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.428787|5.428787	0.96131|0.96131	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110|ENST00000444574	T;T;T|.	0.25414|.	1.8;1.8;1.8|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.56097|.	U|.	0.000034|.	T|T	0.71247|0.71247	0.3317|0.3317	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.77557|.	0.988;0.99;0.99|.	T|T	0.68500|0.68500	-0.5392|-0.5392	10|5	0.87932|.	D|.	0|.	.|.	18.8424|18.8424	0.92189|0.92189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	103;122;134|.	B4DR80;Q5U0E6;Q9Y6E0|.	.;.;STK24_HUMAN|.	T|H	122;134;103;110;122|39	ENSP00000380651:A122T;ENSP00000365730:A134T;ENSP00000442539:A103T|.	ENSP00000365716:A110T|.	A|R	-|-	1|2	0|0	STK24|STK24	97925580|97925580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.662000|7.662000	0.83803|0.83803	2.528000|2.528000	0.85240|0.85240	0.549000|0.549000	0.68633|0.68633	GCT|CGC		0.333	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		10	28	0	0	0	1	0	10	28				
DDX43	55510	broad.mit.edu	37	6	74124304	74124304	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74124304C>T	ENST00000370336.4	+	14	1798	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	547	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACTGATCTAGCCTCTAGAGGA	0.383																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1639-1641)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							115.0	105.0	109.0					6																	74124304		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74124304C>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1640C>T	6.37:g.74124304C>T	ENSP00000359361:p.Ala547Val					MB21D1_ENST00000370318.1_Intron	p.A547V	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			14	1798	+			547			Helicase C-terminal.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.1640C>T	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179360	0.57800	.	.	ENSG00000080007	ENST00000370336	T	0.76578	-1.03	4.3	4.3	0.51218	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	M	0.81614	2.55	0.80722	D	1	D	0.64830	0.994	D	0.67900	0.954	D	0.86891	0.2048	10	0.54805	T	0.06	-0.0568	16.8753	0.86051	0.0:1.0:0.0:0.0	.	547	Q9NXZ2	DDX43_HUMAN	V	547	ENSP00000359361:A547V	ENSP00000359361:A547V	A	+	2	0	DDX43	74181025	1.000000	0.71417	0.911000	0.35937	0.013000	0.08279	5.367000	0.66127	2.358000	0.79984	0.650000	0.86243	GCC		0.383	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		31	45	0	0	0	1	0	31	45				
EIF2D	1939	broad.mit.edu	37	1	206773144	206773144	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:206773144A>G	ENST00000271764.2	-	9	1203	c.995T>C	c.(994-996)gTg>gCg	p.V332A	EIF2D_ENST00000472709.2_5'Flank|EIF2D_ENST00000367114.3_Missense_Mutation_p.V208A	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	332					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAGCTCCTTCACCTGTATAAT	0.562																																						ENST00000271764.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(994-996)gTg>gCg		eukaryotic translation initiation factor 2D							139.0	118.0	125.0					1																	206773144		2203	4300	6503	SO:0001583	missense	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206773144A>G	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.995T>C	1.37:g.206773144A>G	ENSP00000271764:p.Val332Ala					EIF2D_ENST00000367114.3_Missense_Mutation_p.V208A	p.V332A	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			9	1203	-			332					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	c.995T>C	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985154	0.74474	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.49720	0.77;0.78	5.75	5.75	0.90469	.	0.054173	0.64402	D	0.000001	T	0.60222	0.2252	L	0.58583	1.82	0.80722	D	1	D;P	0.65815	0.995;0.766	P;P	0.57371	0.819;0.493	T	0.61831	-0.6982	10	0.52906	T	0.07	-12.0327	14.9021	0.70687	1.0:0.0:0.0:0.0	.	208;332	P41214-2;P41214	.;EIF2D_HUMAN	A	208;332	ENSP00000356081:V208A;ENSP00000271764:V332A	ENSP00000271764:V332A	V	-	2	0	EIF2D	204839767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.016000	0.93645	2.192000	0.70111	0.460000	0.39030	GTG		0.562	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		10	61	0	0	0	1	0	10	61				
LZTR1	8216	broad.mit.edu	37	22	21344752	21344752	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21344752C>A	ENST00000215739.8	+	8	1088	c.729C>A	c.(727-729)ttC>ttA	p.F243L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	243					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTTTGTATTCTCTGGGCAAA	0.567																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(727-729)ttC>ttA		leucine-zipper-like transcription regulator 1							109.0	103.0	105.0					22																	21344752		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21344752C>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.729C>A	22.37:g.21344752C>A	ENSP00000215739:p.Phe243Leu					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L	p.F243L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		8	1088	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	243					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.729C>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873846	0.72180	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.68624	-0.34;-0.34	5.7	4.68	0.58851	Kelch-type beta propeller (1);	0.097484	0.64402	D	0.000001	T	0.73783	0.3631	M	0.80616	2.505	0.58432	D	0.999999	B;P;B;B	0.35944	0.046;0.529;0.026;0.012	B;P;B;B	0.46585	0.066;0.521;0.022;0.02	T	0.76926	-0.2778	10	0.87932	D	0	-33.8228	9.3171	0.37941	0.0:0.837:0.0:0.163	.	224;202;243;202	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	L	202;243;224	ENSP00000215739:F243L;ENSP00000374006:F224L	ENSP00000215739:F243L	F	+	3	2	LZTR1	19674752	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.106000	0.31098	2.688000	0.91661	0.655000	0.94253	TTC		0.567	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		34	67	1	0	1.56442e-22	1	2.17472e-22	34	67				
STOX1	219736	broad.mit.edu	37	10	70641820	70641820	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70641820A>G	ENST00000298596.6	+	2	500	c.417A>G	c.(415-417)gtA>gtG	p.V139V	STOX1_ENST00000399165.4_Silent_p.V139V|STOX1_ENST00000399162.2_Silent_p.V139V|STOX1_ENST00000421961.2_Silent_p.V29V|STOX1_ENST00000399169.4_Silent_p.V139V	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	139						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCAGATTGTAGTAACGCAGG	0.363																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(415-417)gtA>gtG		storkhead box 1							161.0	144.0	149.0					10																	70641820		1850	4093	5943	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70641820A>G	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.417A>G	10.37:g.70641820A>G						STOX1_ENST00000421961.2_Silent_p.V29V|STOX1_ENST00000399165.4_Silent_p.V139V|STOX1_ENST00000399169.4_Silent_p.V139V|STOX1_ENST00000399162.2_Silent_p.V139V	p.V139V	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			2	500	+			139					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.417A>G	CCDS41535.1																																																																																				0.363	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		23	44	0	0	0	1	0	23	44				
GTF2E1	2960	broad.mit.edu	37	3	120469578	120469578	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:120469578G>A	ENST00000283875.5	+	2	272	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	60	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCAACTTCGATCAGTTTTG	0.453																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(178-180)cGa>cAa		general transcription factor IIE, polypeptide 1, alpha 56kDa							97.0	92.0	94.0					3																	120469578		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469578G>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.179G>A	3.37:g.120469578G>A	ENSP00000283875:p.Arg60Gln						p.R60Q	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	272	+			60			HTH TFE/IIEalpha-type.		Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.179G>A	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657442	0.96724	.	.	ENSG00000153767	ENST00000283875;ENST00000492959	T	0.55930	0.49	5.92	5.92	0.95590	TFIIEalpha/SarR/Rpc3 HTH domain (1);Transcription factor TFE/TFIIEalpha HTH domain (1);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77938	-0.2400	9	.	.	.	-16.6536	19.2962	0.94122	0.0:0.0:1.0:0.0	.	60;60	P29083;Q53F88	T2EA_HUMAN;.	Q	60	ENSP00000283875:R60Q	.	R	+	2	0	GTF2E1	121952268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.845000	0.99498	2.795000	0.96236	0.655000	0.94253	CGA		0.453	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		23	41	0	0	0	1	0	23	41				
APOD	347	broad.mit.edu	37	3	195300766	195300766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195300766G>T	ENST00000343267.3	-	3	561	c.200C>A	c.(199-201)tCa>tAa	p.S67*		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	67					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTCCATTAGTGAGTAGTTGGC	0.512																																						ENST00000343267.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(199-201)tCa>tAa		apolipoprotein D							169.0	146.0	154.0					3																	195300766		2203	4300	6503	SO:0001587	stop_gained	347				lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding	g.chr3:195300766G>T		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"""Lipocalins"", ""Apolipoproteins"""	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.200C>A	3.37:g.195300766G>T	ENSP00000345179:p.Ser67*						p.S67*	NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	561	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	67					B2R579|D3DNW6|Q6IBG6	Nonsense_Mutation	SNP	ENST00000343267.3	37	c.200C>A	CCDS33925.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956366	0.92726	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	.	.	.	5.73	5.73	0.89815	.	0.289830	0.34268	N	0.004116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5641	15.3967	0.74801	0.0:0.0:1.0:0.0	.	.	.	.	X	67;95;67	.	ENSP00000345179:S67X	S	-	2	0	APOD	196782055	0.990000	0.36364	0.962000	0.40283	0.530000	0.34684	3.967000	0.56802	2.700000	0.92200	0.655000	0.94253	TCA		0.512	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		6	61	1	0	0.0293803	1	0.0299069	6	61				
TPTE	7179	broad.mit.edu	37	21	10906987	10906987	+	Missense_Mutation	SNP	C	C	T	rs376317057	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10906987C>T	ENST00000361285.4	-	24	1903	c.1574G>A	c.(1573-1575)aGa>aAa	p.R525K	TPTE_ENST00000298232.7_Missense_Mutation_p.R507K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R487K	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	525	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGATAAATTCTCCGTGCTTT	0.358																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1519-1521)aGa>aAa		transmembrane phosphatase with tensin homology							124.0	111.0	116.0					21																	10906987		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906987C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1574G>A	21.37:g.10906987C>T	ENSP00000355208:p.Arg525Lys					TPTE_ENST00000342420.5_Missense_Mutation_p.R487K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R525K	p.R507K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	23	1887	-			525			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1520G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.086514	0.00367	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.82081	-1.57;-1.57;-1.57	2.39	2.39	0.29439	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.246048	0.40302	N	0.001128	T	0.41949	0.1181	N	0.00215	-1.835	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.52373	-0.8584	10	0.02654	T	1	-6.0425	6.033	0.19690	0.0:0.1407:0.0:0.8593	.	487;507;525	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	507;525;487	ENSP00000298232:R507K;ENSP00000355208:R525K;ENSP00000344441:R487K	ENSP00000298232:R507K	R	-	2	0	TPTE	9928858	1.000000	0.71417	0.167000	0.22817	0.003000	0.03518	2.119000	0.41958	0.341000	0.23771	-1.461000	0.01025	AGA		0.358	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	54	0	0	0	1	0	6	54				
TRIML2	205860	broad.mit.edu	37	4	189022278	189022278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:189022278C>A	ENST00000512729.1	-	3	636	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	TRIML2_ENST00000536972.1_Nonsense_Mutation_p.E138*|TRIML2_ENST00000326754.3_Nonsense_Mutation_p.E88*	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	88					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGAAGGGTTTCTCTCAGGTTC	0.438																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(262-264)Gaa>Taa		tripartite motif family-like 2							142.0	134.0	137.0					4																	189022278		2203	4300	6503	SO:0001587	stop_gained	205860						ligase activity	g.chr4:189022278C>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.262G>T	4.37:g.189022278C>A	ENSP00000422581:p.Glu88*					TRIML2_ENST00000326754.3_Nonsense_Mutation_p.E88*|TRIML2_ENST00000536972.1_Nonsense_Mutation_p.E138*	p.E88*	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	3	636	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	88					B7Z6J6	Nonsense_Mutation	SNP	ENST00000512729.1	37	c.262G>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963618	0.74016	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	.	.	.	5.23	2.55	0.30701	.	0.355323	0.20582	N	0.089519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.9754	0.19375	0.0:0.6686:0.1571:0.1743	.	.	.	.	X	88;88;138	.	ENSP00000317498:E88X	E	-	1	0	TRIML2	189259272	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.123000	0.15708	0.415000	0.25817	0.655000	0.94253	GAA		0.438	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		13	21	1	0	3.27435e-08	1	3.83577e-08	13	21				
CC2D2B	387707	broad.mit.edu	37	10	97772424	97772424	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97772424A>G	ENST00000344386.3	+	4	420	c.256A>G	c.(256-258)Aag>Gag	p.K86E	CC2D2B_ENST00000410012.2_Missense_Mutation_p.K86E|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	86										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AAGATATATCAAGGCATTAAA	0.299																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(256-258)Aag>Gag		coiled-coil and C2 domain containing 2B							95.0	92.0	93.0					10																	97772424		1845	4088	5933	SO:0001583	missense	387707							g.chr10:97772424A>G	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.256A>G	10.37:g.97772424A>G	ENSP00000343747:p.Lys86Glu					ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K86E|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	p.K86E	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	4	420	+		Colorectal(252;0.158)	86					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	c.256A>G	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.832178	0.71258	.	.	ENSG00000188649	ENST00000424464;ENST00000451649;ENST00000410012;ENST00000344386	T;T;T	0.81163	-1.46;-0.67;-0.67	5.19	3.98	0.46160	.	.	.	.	.	T	0.74794	0.3763	M	0.72894	2.215	0.23204	N	0.99813	P;B	0.46142	0.873;0.361	B;B	0.36464	0.225;0.157	T	0.65792	-0.6082	9	0.25106	T	0.35	.	9.6198	0.39714	0.8244:0.1756:0.0:0.0	.	86;86	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	E	147;86;86;86	ENSP00000391834:K147E;ENSP00000386988:K86E;ENSP00000343747:K86E	ENSP00000343747:K86E	K	+	1	0	CC2D2B	97762414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.244000	0.51399	1.974000	0.57490	0.477000	0.44152	AAG		0.299	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		14	34	0	0	0	1	0	14	34				
AIFM3	150209	broad.mit.edu	37	22	21331227	21331227	+	Splice_Site	SNP	G	G	A	rs551037156		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21331227G>A	ENST00000399167.2	+	13	1458	c.1218G>A	c.(1216-1218)aaG>aaA	p.K406K	AIFM3_ENST00000399163.2_Splice_Site_p.K406K|AIFM3_ENST00000440238.2_Splice_Site_p.K406K|AIFM3_ENST00000405089.1_Splice_Site_p.K412K|AIFM3_ENST00000333607.6_Splice_Site_p.K406K|AIFM3_ENST00000335375.5_Splice_Site_p.K394K|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	406					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGAGGGAAAGGTGGGCCCTT	0.607																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.e13+1		apoptosis-inducing factor, mitochondrion-associated, 3							145.0	144.0	144.0					22																	21331227		2203	4300	6503	SO:0001630	splice_region_variant	150209							g.chr22:21331227G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1218+1G>A	22.37:g.21331227G>A						AIFM3_ENST00000333607.6_Splice_Site_p.K406_splice|AIFM3_ENST00000399163.2_Splice_Site_p.K406_splice|AIFM3_ENST00000335375.5_Splice_Site_p.K394_splice|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Splice_Site_p.K412_splice|AIFM3_ENST00000440238.2_Splice_Site_p.K406_splice	p.K406_splice	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		13	1458	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Splice_Site	SNP	ENST00000399167.2	37	c.1218_splice	CCDS13786.1																																																																																				0.607	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704	Silent	24	57	0	0	0	1	0	24	57				
TXNDC5	81567	broad.mit.edu	37	6	7886244	7886244	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7886244G>A	ENST00000379757.4	-	8	1033	c.996C>T	c.(994-996)ttC>ttT	p.F332F	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Silent_p.F260F|TXNDC5_ENST00000473453.1_Silent_p.F224F	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	332	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TGGTGTCATCGAAGTTATTTT	0.423																																					Ovarian(119;1430 1625 3928 26125 34589)	ENST00000539054.1																			0											c.(778-780)ttC>ttT									155.0	126.0	136.0					6																	7886244		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr6:7886244G>A	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.996C>T	6.37:g.7886244G>A						TXNDC5_ENST00000379757.4_Silent_p.F332F|BLOC1S5-TXNDC5_ENST00000604490.1_Silent_p.F224F|TXNDC5_ENST00000473453.1_Silent_p.F224F	p.F260F							8	779	-								B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	ENST00000379757.4	37	c.780C>T	CCDS4505.1																																																																																				0.423	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		14	19	0	0	0	1	0	14	19				
LRP2	4036	broad.mit.edu	37	2	170081836	170081836	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170081836C>A	ENST00000263816.3	-	33	5807	c.5522G>T	c.(5521-5523)aGa>aTa	p.R1841I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1841					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGACTGAGTTCTAGGATTGGT	0.388																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(5521-5523)aGa>aTa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						93.0	88.0	90.0					2																	170081836		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170081836C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5522G>T	2.37:g.170081836C>A	ENSP00000263816:p.Arg1841Ile						p.R1841I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	33	5807	-			1841					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.5522G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	9.188	1.025183	0.19433	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.78	0.604	0.17547	Six-bladed beta-propeller, TolB-like (1);	0.777644	0.12578	N	0.456718	T	0.76969	0.4062	N	0.11064	0.09	0.09310	N	1	B	0.24882	0.113	B	0.15484	0.013	T	0.63265	-0.6676	10	0.35671	T	0.21	.	5.1306	0.14907	0.1038:0.367:0.4006:0.1286	.	1841	P98164	LRP2_HUMAN	I	1841	ENSP00000263816:R1841I	ENSP00000263816:R1841I	R	-	2	0	LRP2	169790082	0.000000	0.05858	0.024000	0.17045	0.637000	0.38172	0.067000	0.14510	-0.190000	0.10465	0.650000	0.86243	AGA		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	36	1	0	0.00621372	1	0.0064192	10	36				
A4GNT	51146	broad.mit.edu	37	3	137843320	137843320	+	Missense_Mutation	SNP	C	C	T	rs570351376		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:137843320C>T	ENST00000236709.3	-	3	1010	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	270					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.R270H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TTCATAGTAGCGCCTCCACTC	0.498																																						ENST00000236709.3																			1	Substitution - Missense(1)	p.R270H(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						c.(808-810)cGc>cAc		alpha-1,4-N-acetylglucosaminyltransferase							92.0	89.0	90.0					3																	137843320		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843320C>T	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.809G>A	3.37:g.137843320C>T	ENSP00000236709:p.Arg270His						p.R270H	NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN			3	1010	-			270					Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.809G>A	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605401	0.66445	.	.	ENSG00000118017	ENST00000236709	D	0.82711	-1.64	5.39	2.31	0.28768	Alpha 1,4-glycosyltransferase domain (1);	0.403521	0.22739	N	0.056237	D	0.88179	0.6367	M	0.81239	2.535	0.18873	N	0.999985	D	0.89917	1.0	D	0.68621	0.959	T	0.77043	-0.2734	10	0.45353	T	0.12	-7.9379	6.5038	0.22184	0.2362:0.6206:0.0:0.1432	.	270	Q9UNA3	A4GCT_HUMAN	H	270	ENSP00000236709:R270H	ENSP00000236709:R270H	R	-	2	0	A4GNT	139326010	0.408000	0.25360	0.998000	0.56505	0.978000	0.69477	0.171000	0.16685	1.253000	0.44018	0.563000	0.77884	CGC		0.498	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		25	38	0	0	0	1	0	25	38				
RALGAPA1	253959	broad.mit.edu	37	14	36155765	36155765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36155765G>A	ENST00000389698.3	-	18	2932	c.2542C>T	c.(2542-2544)Cga>Tga	p.R848*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.R848*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.R861*|RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.R895*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	848					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTACCACTTCGAAGTCGTTCT	0.368																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2683-2685)Cga>Tga		Ral GTPase activating protein, alpha subunit 1 (catalytic)							45.0	41.0	43.0					14																	36155765		2203	4300	6503	SO:0001587	stop_gained	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36155765G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2542C>T	14.37:g.36155765G>A	ENSP00000374348:p.Arg848*					RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.R848*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.R861*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.R848*	p.R895*			Q6GYQ0	RGPA1_HUMAN			19	3073	-			848					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	c.2683C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	41	8.555699	0.98861	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.97	5.97	0.96955	.	0.065135	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1002	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	X	848;848;848;895;861;895	.	ENSP00000258840:R895X	R	-	1	2	RALGAPA1	35225516	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	6.315000	0.72853	2.833000	0.97629	0.585000	0.79938	CGA		0.368	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		11	10	0	0	0	1	0	11	10				
H2BFM	286436	broad.mit.edu	37	X	103294803	103294803	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103294803C>T	ENST00000355016.3	+	1	288	c.260C>T	c.(259-261)tCt>tTt	p.S87F	H2BFM_ENST00000243297.5_Missense_Mutation_p.S190F	NM_001164416.1	NP_001157888.1	P0C1H6	H2BFM_HUMAN	H2B histone family, member M	87						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(1)|ovary(1)	3						GTCATGGATTCTATGATCCAT	0.602																																						ENST00000243297.5																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(568-570)tCt>tTt		H2B histone family, member M							30.0	31.0	31.0					X																	103294803		692	1591	2283	SO:0001583	missense	286436							g.chrX:103294803C>T	AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812		"""Histones / Replication-independent"""	27867	protein-coding gene	gene with protein product							Standard	NM_001164416		Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.260C>T	X.37:g.103294803C>T	ENSP00000347119:p.Ser87Phe					H2BFM_ENST00000355016.3_Missense_Mutation_p.S87F	p.S190F							3	569	+								A6NP82	Missense_Mutation	SNP	ENST00000355016.3	37	c.569C>T	CCDS55468.1	.	.	.	.	.	.	.	.	.	.	.	14.02	2.411850	0.42817	.	.	ENSG00000101812	ENST00000243297;ENST00000355016	T;T	0.70986	-0.53;-0.53	2.64	-0.612	0.11597	Histone-fold (2);Histone core (1);	0.000000	0.35936	U	0.002889	D	0.82518	0.5054	M	0.91300	3.195	0.39264	D	0.964267	D	0.71674	0.998	D	0.68621	0.959	T	0.80034	-0.1551	10	0.87932	D	0	.	6.6723	0.23076	0.1851:0.4581:0.3568:0.0	.	190	P0C1H6	H2BFM_HUMAN	F	190;87	ENSP00000243297:S190F;ENSP00000347119:S87F	ENSP00000243297:S190F	S	+	2	0	H2BFM	103181459	0.989000	0.36119	0.000000	0.03702	0.000000	0.00434	2.861000	0.48380	-0.410000	0.07542	-0.340000	0.08031	TCT		0.602	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057758.2	XM_210048		6	20	0	0	0	1	0	6	20				
SLC18A3	6572	broad.mit.edu	37	10	50820378	50820378	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50820378G>A	ENST00000374115.3	+	1	2032	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	531					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TACTACACCCGCAGCTAGCAT	0.667																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1591-1593)cGc>cAc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							56.0	65.0	62.0					10																	50820378		2191	4272	6463	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820378G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1592G>A	10.37:g.50820378G>A	ENSP00000363229:p.Arg531His					CHAT_ENST00000339797.1_Intron	p.R531H	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	2032	+			531					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1592G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815876	0.50527	.	.	ENSG00000187714	ENST00000374115	T	0.05081	3.5	3.99	1.9	0.25705	.	0.829833	0.10151	U	0.709614	T	0.02267	0.0070	N	0.08118	0	0.21220	N	0.99975	P	0.51791	0.948	B	0.30316	0.114	T	0.41466	-0.9507	10	0.87932	D	0	-7.0867	3.5348	0.07790	0.2365:0.2157:0.5478:0.0	.	531	Q16572	VACHT_HUMAN	H	531	ENSP00000363229:R531H	ENSP00000363229:R531H	R	+	2	0	SLC18A3	50490384	0.793000	0.28825	1.000000	0.80357	0.336000	0.28762	0.572000	0.23684	0.979000	0.38497	0.555000	0.69702	CGC		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		15	133	0	0	0	1	0	15	133				
TSPYL5	85453	broad.mit.edu	37	8	98288981	98288981	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:98288981C>A	ENST00000322128.3	-	1	1195	c.1092G>T	c.(1090-1092)aaG>aaT	p.K364N		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	364					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TCTCCACAATCTTGTCAGACT	0.468																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(1090-1092)aaG>aaT		TSPY-like 5							156.0	165.0	162.0					8																	98288981		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98288981C>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1092G>T	8.37:g.98288981C>A	ENSP00000322802:p.Lys364Asn						p.K364N	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	1195	-	Breast(36;2.56e-06)		364					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.1092G>T	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232918	0.58777	.	.	ENSG00000180543	ENST00000322128	T	0.29397	1.57	4.3	3.35	0.38373	.	0.000000	0.34460	N	0.003958	T	0.37892	0.1020	L	0.46157	1.445	0.33855	D	0.63311	D	0.57571	0.98	P	0.58577	0.841	T	0.52711	-0.8539	10	0.72032	D	0.01	-26.6221	6.1457	0.20285	0.0:0.8419:0.0:0.1581	.	364	Q86VY4	TSYL5_HUMAN	N	364	ENSP00000322802:K364N	ENSP00000322802:K364N	K	-	3	2	TSPYL5	98358157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.786000	0.26844	1.266000	0.44231	0.563000	0.77884	AAG		0.468	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		60	118	1	0	1.16596e-39	1	1.68366e-39	60	118				
APC	324	broad.mit.edu	37	5	112178190	112178190	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112178190C>A	ENST00000457016.1	+	16	7279	c.6899C>A	c.(6898-6900)tCt>tAt	p.S2300Y	APC_ENST00000257430.4_Missense_Mutation_p.S2300Y|APC_ENST00000508376.2_Missense_Mutation_p.S2300Y|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2300	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGCACCTTCTAGATCAGGA	0.493		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(6898-6900)tCt>tAt		adenomatous polyposis coli							59.0	55.0	56.0					5																	112178190		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112178190C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6899C>A	5.37:g.112178190C>A	ENSP00000413133:p.Ser2300Tyr	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.S2300Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S2300Y	p.S2300Y			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	7279	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2300			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.6899C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444713	0.43429	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89552	-2.53;-2.53;-2.53	6.02	6.02	0.97574	Adenomatous polyposis coli protein basic domain (1);	0.095150	0.64402	D	0.000001	D	0.93864	0.8037	M	0.66939	2.045	0.53005	D	0.999966	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.961	D	0.92357	0.5894	9	.	.	.	-14.4644	20.5373	0.99239	0.0:1.0:0.0:0.0	.	2302;2300	Q4LE70;P25054	.;APC_HUMAN	Y	2300	ENSP00000413133:S2300Y;ENSP00000257430:S2300Y;ENSP00000427089:S2300Y	.	S	+	2	0	APC	112206089	1.000000	0.71417	0.997000	0.53966	0.625000	0.37756	5.442000	0.66575	2.857000	0.98124	0.650000	0.86243	TCT		0.493	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		20	47	1	0	5.35267e-07	1	6.09026e-07	20	47				
THADA	63892	broad.mit.edu	37	2	43798951	43798951	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:43798951T>G	ENST00000405006.4	-	13	2310	c.1959A>C	c.(1957-1959)gaA>gaC	p.E653D	THADA_ENST00000403856.1_Missense_Mutation_p.E653D|THADA_ENST00000330266.7_Missense_Mutation_p.E363D|THADA_ENST00000404790.1_Missense_Mutation_p.E653D|THADA_ENST00000405975.2_Missense_Mutation_p.E653D|THADA_ENST00000415080.2_Missense_Mutation_p.E363D|THADA_ENST00000402360.2_Missense_Mutation_p.E653D	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	653										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGGAAACAATTTCTGTGCTCC	0.358																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1957-1959)gaA>gaC		thyroid adenoma associated							129.0	132.0	131.0					2																	43798951		1867	4102	5969	SO:0001583	missense	63892						binding	g.chr2:43798951T>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1959A>C	2.37:g.43798951T>G	ENSP00000385995:p.Glu653Asp					THADA_ENST00000405006.4_Missense_Mutation_p.E653D|THADA_ENST00000330266.7_Missense_Mutation_p.E363D|THADA_ENST00000415080.2_Missense_Mutation_p.E363D|THADA_ENST00000405975.2_Missense_Mutation_p.E653D|THADA_ENST00000404790.1_Missense_Mutation_p.E653D|THADA_ENST00000402360.2_Missense_Mutation_p.E653D	p.E653D			Q6YHU6	THADA_HUMAN			14	2106	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	653					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.1959A>C	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873883	0.51695	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;1.24;1.24;1.49	5.16	-0.252	0.12999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	L	0.61036	1.89	0.23537	N	0.997467	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.997;0.999	D;D;D;P;D	0.87578	0.998;0.996;0.955;0.904;0.991	T	0.61931	-0.6961	10	0.44086	T	0.13	-0.3917	9.8574	0.41094	0.0:0.3435:0.0:0.6565	.	653;653;653;363;653	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	D	363;653;653;363;653;653;653;653	ENSP00000331105:E363D;ENSP00000386088:E653D;ENSP00000416048:E363D;ENSP00000385995:E653D;ENSP00000385441:E653D;ENSP00000384266:E653D;ENSP00000385469:E653D	ENSP00000331105:E363D	E	-	3	2	THADA	43652455	0.358000	0.24947	0.385000	0.26158	0.757000	0.42996	0.487000	0.22356	0.076000	0.16826	-0.376000	0.06991	GAA		0.358	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		39	60	0	0	0	1	0	39	60				
USP9X	8239	broad.mit.edu	37	X	41025176	41025176	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41025176A>C	ENST00000324545.8	+	16	2670	c.2037A>C	c.(2035-2037)caA>caC	p.Q679H	USP9X_ENST00000378308.2_Missense_Mutation_p.Q679H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	679					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGGCAAAACAAATATGGAAAT	0.368																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2035-2037)caA>caC		ubiquitin specific peptidase 9, X-linked							129.0	123.0	125.0					X																	41025176		2195	4297	6492	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41025176A>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2037A>C	X.37:g.41025176A>C	ENSP00000316357:p.Gln679His					USP9X_ENST00000378308.2_Missense_Mutation_p.Q679H	p.Q679H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			16	2670	+			679					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.2037A>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.484078	0.63962	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03212	4.01;4.01	4.92	2.51	0.30379	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	M	0.74258	2.255	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.976	T	0.00260	-1.1869	10	0.46703	T	0.11	.	8.6041	0.33762	0.8387:0.0:0.1613:0.0	.	679;679	Q93008-1;Q93008	.;USP9X_HUMAN	H	679	ENSP00000367558:Q679H;ENSP00000316357:Q679H	ENSP00000316357:Q679H	Q	+	3	2	USP9X	40910120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.863000	0.39459	0.186000	0.20125	0.486000	0.48141	CAA		0.368	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		5	90	0	0	0	1	0	5	90				
PRND	23627	broad.mit.edu	37	20	4705395	4705395	+	Silent	SNP	C	C	T	rs369768460		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4705395C>T	ENST00000305817.2	+	2	269	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	66	Globular.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCCGCAAGCTCGACATTGACT	0.602																																						ENST00000305817.2																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						c.(196-198)ctC>ctT		prion protein 2 (dublet)		C		0,4406		0,0,2203	75.0	56.0	62.0		198	-10.7	0.0	20		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRND	NM_012409.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		66/177	4705395	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705395C>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.198C>T	20.37:g.4705395C>T							p.L66L	NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN			2	269	+			66			Globular.		A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	ENST00000305817.2	37	c.198C>T	CCDS13081.1																																																																																				0.602	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		25	45	0	0	0	1	0	25	45				
SLC8A1	6546	broad.mit.edu	37	2	40401859	40401859	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40401859T>C	ENST00000403092.1	-	6	1989	c.1956A>G	c.(1954-1956)ggA>ggG	p.G652G	SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000332839.4_Splice_Site_p.G652G|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000408028.2_Splice_Site_p.G644G|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Intron|SLC8A1_ENST00000542756.1_Intron|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	652					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACAGGTATTTTCCTTCATTAA	0.274																																						ENST00000403092.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.e6-1		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						46.0	53.0	51.0					2																	40401859		2186	4289	6475	SO:0001630	splice_region_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40401859T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1955-1A>G	2.37:g.40401859T>C						SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Splice_Site_p.G644_splice|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Splice_Site_p.G652_splice|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Intron|SLC8A1_ENST00000542024.1_Intron	p.G652_splice			P32418	NAC1_HUMAN			6	1989	-			652					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Splice_Site	SNP	ENST00000403092.1	37	c.1954_splice	CCDS1806.1																																																																																				0.274	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	Silent	7	22	0	0	0	1	0	7	22				
USP47	55031	broad.mit.edu	37	11	11941759	11941759	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:11941759T>G	ENST00000399455.2	+	10	1206	c.1086T>G	c.(1084-1086)taT>taG	p.Y362*	USP47_ENST00000527733.1_Nonsense_Mutation_p.Y342*|USP47_ENST00000339865.5_Nonsense_Mutation_p.Y274*|USP47_ENST00000539466.1_De_novo_Start_OutOfFrame	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	362	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAAATCAGTATTTTTGTGAAC	0.313																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(820-822)taT>taG		ubiquitin specific peptidase 47							122.0	111.0	115.0					11																	11941759		1833	4065	5898	SO:0001587	stop_gained	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11941759T>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.1086T>G	11.37:g.11941759T>G	ENSP00000382382:p.Tyr362*					USP47_ENST00000399455.2_Nonsense_Mutation_p.Y362*|USP47_ENST00000527733.1_Nonsense_Mutation_p.Y342*|USP47_ENST00000539466.1_De_novo_Start_OutOfFrame	p.Y274*	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	8	1585	+			362					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Nonsense_Mutation	SNP	ENST00000399455.2	37	c.822T>G		.	.	.	.	.	.	.	.	.	.	T	29.5	5.015345	0.93404	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000535588	.	.	.	5.38	-5.52	0.02560	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.189	0.81972	0.0:0.5915:0.0:0.4085	.	.	.	.	X	274;342;362;362	.	ENSP00000339957:Y274X	Y	+	3	2	USP47	11898335	0.601000	0.26907	0.607000	0.28956	0.927000	0.56198	-0.184000	0.09698	-0.869000	0.04052	-0.400000	0.06385	TAT		0.313	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		4	70	0	0	0	1	0	4	70				
PDZD2	23037	broad.mit.edu	37	5	32088777	32088777	+	Silent	SNP	C	C	T	rs74814525		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32088777C>T	ENST00000438447.1	+	20	5611	c.5223C>T	c.(5221-5223)gaC>gaT	p.D1741D	PDZD2_ENST00000282493.3_Silent_p.D1741D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1741					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGCTAGATGACGAAACCCTGA	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20902	0.0		0.0	False		,,,				2504	0.0					ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5221-5223)gaC>gaT		PDZ domain containing 2							130.0	105.0	114.0					5																	32088777		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088777C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5223C>T	5.37:g.32088777C>T						PDZD2_ENST00000282493.3_Silent_p.D1741D	p.D1741D			O15018	PDZD2_HUMAN			20	5611	+			1741					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.5223C>T	CCDS34137.1																																																																																				0.473	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			32	56	0	0	0	1	0	32	56				
SLCO1B1	10599	broad.mit.edu	37	12	21294589	21294589	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21294589G>A	ENST00000256958.2	+	2	177	c.81G>A	c.(79-81)ttG>ttA	p.L27L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	27					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)	GCAATGGATTGAAGGTAGAAT	0.279																																						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.(79-81)ttG>ttA		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						63.0	65.0	64.0					12																	21294589		2203	4295	6498	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.chr12:21294589G>A		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.81G>A	12.37:g.21294589G>A							p.L27L	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			2	177	+			27					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.81G>A	CCDS8685.1																																																																																				0.279	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		14	26	0	0	0	1	0	14	26				
TMC2	117532	broad.mit.edu	37	20	2597824	2597824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2597824G>T	ENST00000358864.1	+	16	2062	c.2047G>T	c.(2047-2049)Gaa>Taa	p.E683*	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	683					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGTACCCCATGAACGCGTGTT	0.582																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2047-2049)Gaa>Taa		transmembrane channel-like 2							194.0	135.0	155.0					20																	2597824		2203	4300	6503	SO:0001587	stop_gained	117532					integral to membrane		g.chr20:2597824G>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2047G>T	20.37:g.2597824G>T	ENSP00000351732:p.Glu683*					TMC2_ENST00000496948.1_3'UTR	p.E683*	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			16	2062	+			683					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Nonsense_Mutation	SNP	ENST00000358864.1	37	c.2047G>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	39	7.432637	0.98282	.	.	ENSG00000149488	ENST00000358864	.	.	.	5.35	5.35	0.76521	.	0.095322	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.9998	16.9259	0.86176	0.0:0.0:1.0:0.0	.	.	.	.	X	683	.	ENSP00000351732:E683X	E	+	1	0	TMC2	2545824	1.000000	0.71417	0.958000	0.39756	0.944000	0.59088	9.869000	0.99810	2.656000	0.90262	0.650000	0.86243	GAA		0.582	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			9	92	1	0	0.000442599	1	0.00046913	9	92				
NEO1	4756	broad.mit.edu	37	15	73566199	73566199	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73566199T>C	ENST00000339362.5	+	21	3460	c.3013T>C	c.(3013-3015)Tgg>Cgg	p.W1005R	NEO1_ENST00000558964.1_Missense_Mutation_p.W1005R|NEO1_ENST00000560262.1_Missense_Mutation_p.W1005R|NEO1_ENST00000261908.6_Missense_Mutation_p.W1005R			Q92859	NEO1_HUMAN	neogenin 1	1005	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GATACATGACTGGGTTATTGA	0.403																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(3013-3015)Tgg>Cgg		neogenin 1							145.0	133.0	137.0					15																	73566199		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73566199T>C	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3013T>C	15.37:g.73566199T>C	ENSP00000341198:p.Trp1005Arg					NEO1_ENST00000261908.6_Missense_Mutation_p.W1005R|NEO1_ENST00000558964.1_Missense_Mutation_p.W1005R|NEO1_ENST00000560262.1_Missense_Mutation_p.W1005R	p.W1005R			Q92859	NEO1_HUMAN			21	3460	+			1005			Fibronectin type-III 6.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3013T>C	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539750	0.85917	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.58652	0.32;0.32	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80352	0.4607	M	0.89353	3.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83716	0.0190	10	0.62326	D	0.03	-6.2251	16.4237	0.83790	0.0:0.0:0.0:1.0	.	1005;1005;727;1005	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	R	1005;727;1005	ENSP00000341198:W1005R;ENSP00000261908:W1005R	ENSP00000261908:W1005R	W	+	1	0	NEO1	71353252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	TGG		0.403	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		18	41	0	0	0	1	0	18	41				
ZNF793	390927	broad.mit.edu	37	19	38027836	38027836	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38027836G>A	ENST00000587143.1	+	6	511	c.276G>A	c.(274-276)cgG>cgA	p.R92R	ZNF793_ENST00000589319.1_Silent_p.R92R|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Silent_p.R92R|ZNF793_ENST00000445217.1_Silent_p.R92R			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAAGACGGCAAGACATGC	0.393																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(274-276)cgG>cgA		zinc finger protein 793							41.0	44.0	43.0					19																	38027836		1866	4099	5965	SO:0001819	synonymous_variant	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38027836G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.276G>A	19.37:g.38027836G>A						ZNF793_ENST00000587143.1_Silent_p.R92R|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Silent_p.R92R|ZNF793_ENST00000589319.1_Silent_p.R92R	p.R92R			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	311	+			92					E9PGN4|Q7Z3Q9	Silent	SNP	ENST00000587143.1	37	c.276G>A	CCDS46062.1																																																																																				0.393	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		10	13	0	0	0	1	0	10	13				
MRPS35	60488	broad.mit.edu	37	12	27869353	27869353	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:27869353G>A	ENST00000081029.3	+	3	354	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	MRPS35_ENST00000538315.1_Missense_Mutation_p.V95M	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.V95M(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AAAAAAGGGCGTGCCCATGGC	0.443																																						ENST00000081029.3																			1	Substitution - Missense(1)	p.V95M(1)	endometrium(1)	breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(283-285)Gtg>Atg		mitochondrial ribosomal protein S35							80.0	76.0	78.0					12																	27869353		2203	4300	6503	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27869353G>A	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.283G>A	12.37:g.27869353G>A	ENSP00000081029:p.Val95Met					MRPS35_ENST00000538315.1_Missense_Mutation_p.V95M	p.V95M	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN			3	354	+	Lung SC(9;0.0873)		95					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.283G>A	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867837	0.51588	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.52526	0.7;0.66	5.88	4.99	0.66335	.	0.053065	0.85682	N	0.000000	T	0.37972	0.1023	L	0.52206	1.635	0.48341	D	0.999631	P;B	0.38677	0.642;0.127	B;B	0.25987	0.065;0.022	T	0.37361	-0.9709	10	0.59425	D	0.04	-23.4614	12.7139	0.57103	0.0755:0.0:0.9245:0.0	.	95;95	P82673-2;P82673	.;RT35_HUMAN	M	95	ENSP00000081029:V95M;ENSP00000445390:V95M	ENSP00000081029:V95M	V	+	1	0	MRPS35	27760620	1.000000	0.71417	0.627000	0.29227	0.614000	0.37383	4.326000	0.59241	1.504000	0.48704	-0.122000	0.15005	GTG		0.443	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		16	43	0	0	0	1	0	16	43				
SEMG2	6407	broad.mit.edu	37	20	43851032	43851032	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43851032T>G	ENST00000372769.3	+	2	849	c.759T>G	c.(757-759)atT>atG	p.I253M		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	253	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCAAAGACATTTTTACTACCC	0.403																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(757-759)atT>atG		semenogelin II							117.0	116.0	116.0					20																	43851032		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851032T>G		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.759T>G	20.37:g.43851032T>G	ENSP00000361855:p.Ile253Met						p.I253M	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	849	+		Myeloproliferative disorder(115;0.0122)	253			Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.759T>G	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	T	9.801	1.180475	0.21787	.	.	ENSG00000124157	ENST00000372769	T	0.10288	2.89	1.57	0.428	0.16499	.	.	.	.	.	T	0.21145	0.0509	L	0.54323	1.7	0.09310	N	1	D;D;D	0.71674	0.997;0.998;0.996	D;D;D	0.80764	0.994;0.973;0.951	T	0.11348	-1.0591	9	0.62326	D	0.03	.	3.3447	0.07131	0.0:0.236:0.0:0.764	.	253;253;253	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	M	253	ENSP00000361855:I253M	ENSP00000361855:I253M	I	+	3	3	SEMG2	43284446	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.082000	0.11304	0.084000	0.17077	-0.250000	0.11733	ATT		0.403	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		38	73	0	0	0	1	0	38	73				
COL6A3	1293	broad.mit.edu	37	2	238285704	238285704	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238285704A>C	ENST00000295550.4	-	7	3233	c.2781T>G	c.(2779-2781)atT>atG	p.I927M	COL6A3_ENST00000346358.4_Missense_Mutation_p.I727M|COL6A3_ENST00000392003.2_Missense_Mutation_p.I520M|COL6A3_ENST00000347401.3_Missense_Mutation_p.I726M|COL6A3_ENST00000353578.4_Missense_Mutation_p.I721M|COL6A3_ENST00000392004.3_Missense_Mutation_p.I721M|COL6A3_ENST00000472056.1_Missense_Mutation_p.I320M|COL6A3_ENST00000409809.1_Missense_Mutation_p.I721M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	927	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTTCACAAAAATGTACCTCT	0.537																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(2779-2781)atT>atG		collagen, type VI, alpha 3							85.0	74.0	77.0					2																	238285704		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285704A>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2781T>G	2.37:g.238285704A>C	ENSP00000295550:p.Ile927Met					COL6A3_ENST00000392003.2_Missense_Mutation_p.I520M|COL6A3_ENST00000353578.4_Missense_Mutation_p.I721M|COL6A3_ENST00000347401.3_Missense_Mutation_p.I726M|COL6A3_ENST00000472056.1_Missense_Mutation_p.I320M|COL6A3_ENST00000392004.3_Missense_Mutation_p.I721M|COL6A3_ENST00000346358.4_Missense_Mutation_p.I727M|COL6A3_ENST00000409809.1_Missense_Mutation_p.I721M	p.I927M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3233	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	927			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2781T>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.017268	0.35606	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.55	-6.26	0.02033	von Willebrand factor, type A (3);	0.463539	0.18400	N	0.142388	T	0.80160	0.4572	L	0.39245	1.2	0.23101	N	0.998298	P;D;D;P;D;P	0.65815	0.81;0.992;0.957;0.915;0.995;0.884	P;D;P;P;D;P	0.72982	0.546;0.979;0.835;0.845;0.952;0.647	T	0.70835	-0.4764	10	0.39692	T	0.17	.	4.1187	0.10095	0.4675:0.2726:0.1802:0.0797	.	727;320;520;721;721;927	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	M	927;726;721;320;721;727;721;520	ENSP00000295550:I927M;ENSP00000315609:I726M;ENSP00000315873:I721M;ENSP00000418285:I320M;ENSP00000386844:I721M;ENSP00000295546:I727M;ENSP00000375861:I721M;ENSP00000375860:I520M	ENSP00000295550:I927M	I	-	3	3	COL6A3	237950443	0.458000	0.25760	0.018000	0.16275	0.286000	0.27126	-0.264000	0.08658	-1.367000	0.02152	-1.100000	0.02121	ATT		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		8	80	0	0	0	1	0	8	80				
SLC32A1	140679	broad.mit.edu	37	20	37356342	37356342	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37356342A>G	ENST00000217420.1	+	2	901	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	213					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CAGATCATCGAGCTGGTGATG	0.632																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(637-639)gAg>gGg		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						121.0	92.0	102.0					20																	37356342		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356342A>G	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.638A>G	20.37:g.37356342A>G	ENSP00000217420:p.Glu213Gly						p.E213G	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	901	+		Myeloproliferative disorder(115;0.00878)	213					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.638A>G	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034645	0.75617	.	.	ENSG00000101438	ENST00000217420	T	0.02472	4.28	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00290	-1.1843	10	0.59425	D	0.04	-21.8598	12.3261	0.55011	1.0:0.0:0.0:0.0	.	213	Q9H598	VIAAT_HUMAN	G	213	ENSP00000217420:E213G	ENSP00000217420:E213G	E	+	2	0	SLC32A1	36789756	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.253000	0.95501	1.877000	0.54381	0.460000	0.39030	GAG		0.632	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		5	63	0	0	0	1	0	5	63				
CYFIP1	23191	broad.mit.edu	37	15	22933766	22933766	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22933766G>A	ENST00000313077.7	+	8	810	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E229K	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCAGCTCGAAGTGATTTC	0.532																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(685-687)Gaa>Aaa		cytoplasmic FMR1 interacting protein 1							116.0	118.0	117.0					15																	22933766		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22933766G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.685G>A	15.37:g.22933766G>A	ENSP00000324549:p.Glu229Lys					CYFIP1_ENST00000560848.1_Missense_Mutation_p.E229K	p.E229K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	8	810	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	229						Missense_Mutation	SNP	ENST00000313077.7	37	c.685G>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901709	0.52227	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.44881	0.91	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.32530	0.975	0.80722	D	1	D;P	0.69078	0.997;0.894	D;B	0.68039	0.955;0.154	T	0.27806	-1.0063	10	0.07813	T	0.8	-24.6786	19.7269	0.96168	0.0:0.0:1.0:0.0	.	257;229	E7EQ04;Q7L576	.;CYFP1_HUMAN	K	229;257	ENSP00000324549:E229K	ENSP00000324549:E229K	E	+	1	0	CYFIP1	20485207	1.000000	0.71417	0.976000	0.42696	0.205000	0.24178	9.705000	0.98719	2.675000	0.91044	0.555000	0.69702	GAA		0.532	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		53	93	0	0	0	1	0	53	93				
POP1	10940	broad.mit.edu	37	8	99139912	99139912	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99139912A>G	ENST00000401707.2	+	3	313	c.232A>G	c.(232-234)Aaa>Gaa	p.K78E	POP1_ENST00000349693.3_Missense_Mutation_p.K78E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	78					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTCTTCCTCCAAAGGGATGTT	0.498																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(232-234)Aaa>Gaa		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							117.0	111.0	113.0					8																	99139912		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99139912A>G	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.232A>G	8.37:g.99139912A>G	ENSP00000385787:p.Lys78Glu					POP1_ENST00000349693.3_Missense_Mutation_p.K78E	p.K78E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		3	313	+	Breast(36;1.78e-06)		78					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.232A>G	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692430	0.30052	.	.	ENSG00000104356	ENST00000522319;ENST00000401707;ENST00000349693	T;T;T	0.46819	0.86;1.21;1.21	6.08	4.93	0.64822	.	0.776490	0.12284	N	0.482575	T	0.31670	0.0804	L	0.27053	0.805	0.09310	N	1	B	0.25441	0.126	B	0.24701	0.055	T	0.27839	-1.0062	10	0.12103	T	0.63	-3.0564	7.6414	0.28296	0.8378:0.0:0.1622:0.0	.	78	Q99575	POP1_HUMAN	E	78	ENSP00000428945:K78E;ENSP00000385787:K78E;ENSP00000339529:K78E	ENSP00000339529:K78E	K	+	1	0	POP1	99209088	0.973000	0.33851	0.596000	0.28811	0.855000	0.48748	3.040000	0.49799	1.129000	0.42072	0.482000	0.46254	AAA		0.498	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		28	51	0	0	0	1	0	28	51				
MED14	9282	broad.mit.edu	37	X	40586033	40586033	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:40586033A>G	ENST00000324817.1	-	3	431	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	105					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTATTAGCCCATTTCACTAAA	0.323																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(313-315)Tgg>Cgg		mediator complex subunit 14							54.0	50.0	52.0					X																	40586033		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40586033A>G	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.313T>C	X.37:g.40586033A>G	ENSP00000323720:p.Trp105Arg						p.W105R	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			3	431	-			105					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.313T>C	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.291638	0.80914	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.85767	0.5773	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89453	0.3731	9	0.87932	D	0	.	13.907	0.63843	1.0:0.0:0.0:0.0	.	105	O60244	MED14_HUMAN	R	105	.	ENSP00000323720:W105R	W	-	1	0	MED14	40470977	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.747000	0.91610	1.809000	0.52856	0.441000	0.28932	TGG		0.323	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		10	29	0	0	0	1	0	10	29				
EPPK1	83481	broad.mit.edu	37	8	144941131	144941131	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144941131G>C	ENST00000525985.1	-	2	6362	c.6291C>G	c.(6289-6291)gaC>gaG	p.D2097E				P58107	EPIPL_HUMAN	epiplakin 1	2097						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCTCGTCTCGTCATCGATGT	0.587																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6289-6291)gaC>gaG		epiplakin 1							102.0	111.0	108.0					8																	144941131		2154	4247	6401	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941131G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6291C>G	8.37:g.144941131G>C	ENSP00000436337:p.Asp2097Glu						p.D2097E			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6362	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2097					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6291C>G		.	.	.	.	.	.	.	.	.	.	G	2.341	-0.351150	0.05173	.	.	ENSG00000227184	ENST00000525985	T	0.63096	-0.02	4.71	-0.435	0.12279	.	.	.	.	.	T	0.17916	0.0430	N	0.00471	-1.455	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34428	-0.9829	9	0.02654	T	1	.	0.307	0.00282	0.3069:0.2911:0.1555:0.2466	.	2097	E9PPU0	.	E	2097	ENSP00000436337:D2097E	ENSP00000436337:D2097E	D	-	3	2	EPPK1	145013119	0.001000	0.12720	0.018000	0.16275	0.001000	0.01503	0.017000	0.13399	0.223000	0.20920	-1.503000	0.00956	GAC		0.587	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		12	139	0	0	0	1	0	12	139				
RALB	5899	broad.mit.edu	37	2	121043521	121043521	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121043521T>G	ENST00000272519.5	+	3	456	c.186T>G	c.(184-186)gtT>gtG	p.V62V	RALB_ENST00000470417.1_Intron|RALB_ENST00000474855.2_Silent_p.V84V|RALB_ENST00000420510.1_Silent_p.V62V|RALB_ENST00000404963.3_Silent_p.V83V	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	62					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GGGAAGAAGTTCAGATAGATA	0.413																																						ENST00000272519.5																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(184-186)gtT>gtG		v-ral simian leukemia viral oncogene homolog B							106.0	101.0	103.0					2																	121043521		2203	4300	6503	SO:0001819	synonymous_variant	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121043521T>G		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.186T>G	2.37:g.121043521T>G						RALB_ENST00000420510.1_Silent_p.V62V|RALB_ENST00000474855.2_Silent_p.V84V|RALB_ENST00000404963.3_Silent_p.V83V|RALB_ENST00000470417.1_Intron	p.V62V	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN			3	456	+		Prostate(154;0.122)	62					B4E040|Q53T32|Q6ZS74	Silent	SNP	ENST00000272519.5	37	c.186T>G	CCDS2131.1																																																																																				0.413	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		14	38	0	0	0	1	0	14	38				
FAM154A	158297	broad.mit.edu	37	9	18950823	18950823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:18950823C>A	ENST00000380534.4	-	2	430	c.151G>T	c.(151-153)Gag>Tag	p.E51*	FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Nonsense_Mutation_p.E51*|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	51										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TTGAAGGACTCTCTGGGCAGG	0.463																																						ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(151-153)Gag>Tag		family with sequence similarity 154, member A							200.0	185.0	190.0					9																	18950823		2203	4300	6503	SO:0001587	stop_gained	158297							g.chr9:18950823C>A	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.151G>T	9.37:g.18950823C>A	ENSP00000369907:p.Glu51*					FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Nonsense_Mutation_p.E51*|FAM154A_ENST00000542071.1_5'UTR	p.E51*	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	2	430	-			51					Q5VY58	Nonsense_Mutation	SNP	ENST00000380534.4	37	c.151G>T	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	C	38	6.711544	0.97780	.	.	ENSG00000155875	ENST00000380534;ENST00000380530	.	.	.	5.54	4.63	0.57726	.	0.483430	0.18855	N	0.129289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-1.5897	11.2968	0.49282	0.0:0.9099:0.0:0.0901	.	.	.	.	X	51	.	ENSP00000369902:E51X	E	-	1	0	FAM154A	18940823	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.082000	0.41605	1.314000	0.45095	0.655000	0.94253	GAG		0.463	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		50	78	1	0	8.94452e-30	1	1.27491e-29	50	78				
SLC1A2	6506	broad.mit.edu	37	11	35308373	35308373	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:35308373G>A	ENST00000278379.3	-	8	1499	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	SLC1A2_ENST00000606205.1_Missense_Mutation_p.A406V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A397V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A397V|SLC1A2_ENST00000479543.1_5'Flank|RP1-68D18.3_ENST00000532760.1_RNA	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	406					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GGCGGCTACCGCTTCATAAAG	0.468																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1216-1218)gCg>gTg		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						184.0	167.0	173.0					11																	35308373		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35308373G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1217C>T	11.37:g.35308373G>A	ENSP00000278379:p.Ala406Val					SLC1A2_ENST00000606205.1_Missense_Mutation_p.A406V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A397V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A397V	p.A406V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		8	1499	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	406					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1217C>T	CCDS31459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.749669|4.749669	0.89753|0.89753	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.59772|.	0.24;0.24;0.24|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Sodium:dicarboxylate symporter, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84165|0.84165	0.5412|0.5412	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.969;0.999|.	D|D	0.85013|0.85013	0.0907|0.0907	10|5	0.87932|.	D|.	0|.	-21.4502|-21.4502	20.024|20.024	0.97514|0.97514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	406;406|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	V|W	406;397;397|124	ENSP00000278379:A406V;ENSP00000379099:A397V;ENSP00000379102:A397V|.	ENSP00000278379:A406V|.	A|R	-|-	2|1	0|2	SLC1A2|SLC1A2	35264949|35264949	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.388000|0.388000	0.30384|0.30384	9.813000|9.813000	0.99286|0.99286	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.468	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		23	115	0	0	0	1	0	23	115				
PCDHGB1	56104	broad.mit.edu	37	5	140730012	140730012	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140730012G>A	ENST00000523390.1	+	1	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCAACTCGAAAACTGCGG	0.522											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(184-186)cGa>cAa									77.0	76.0	77.0					5																	140730012		1884	4101	5985	SO:0001583	missense	0							g.chr5:140730012G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.185G>A	5.37:g.140730012G>A	ENSP00000429273:p.Arg62Gln		OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R62Q	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	185	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.185G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.904581	0.92035	.	.	ENSG00000254221	ENST00000523390	T	0.40225	1.04	5.52	4.65	0.58169	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.73651	0.3614	H	0.98256	4.185	0.27532	N	0.951053	D;D	0.67145	0.983;0.996	B;P	0.57720	0.299;0.826	T	0.75210	-0.3398	9	0.72032	D	0.01	.	14.2571	0.66060	0.0727:0.0:0.9273:0.0	.	62;62	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	Q	62	ENSP00000429273:R62Q	ENSP00000429273:R62Q	R	+	2	0	PCDHGB1	140710196	0.896000	0.30565	0.997000	0.53966	0.994000	0.84299	3.584000	0.53936	1.462000	0.47948	0.563000	0.77884	CGA		0.522	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		21	30	0	0	0	1	0	21	30				
OR5R1	219479	broad.mit.edu	37	11	56185045	56185045	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56185045T>C	ENST00000312253.1	-	1	663	c.664A>G	c.(664-666)Att>Gtt	p.I222V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	222						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATAGCGGCAATAATAAAGATG	0.453																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(664-666)Att>Gtt		olfactory receptor, family 5, subfamily R, member 1							116.0	104.0	108.0					11																	56185045		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185045T>C	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.664A>G	11.37:g.56185045T>C	ENSP00000308595:p.Ile222Val						p.I222V	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	663	-	Esophageal squamous(21;0.00448)		222						Missense_Mutation	SNP	ENST00000312253.1	37	c.664A>G	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	T	7.470	0.646447	0.14451	.	.	ENSG00000174942	ENST00000312253	T	0.00145	8.67	5.53	0.0656	0.14357	GPCR, rhodopsin-like superfamily (1);	0.330908	0.17129	U	0.185905	T	0.00073	0.0002	N	0.25890	0.77	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.28964	-1.0027	10	0.34782	T	0.22	-7.9112	1.7227	0.02915	0.1076:0.2334:0.2432:0.4158	.	222	Q8NH85	OR5R1_HUMAN	V	222	ENSP00000308595:I222V	ENSP00000308595:I222V	I	-	1	0	OR5R1	55941621	0.000000	0.05858	0.135000	0.22099	0.922000	0.55478	-0.454000	0.06770	0.390000	0.25115	0.472000	0.43445	ATT		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		33	51	0	0	0	1	0	33	51				
GJA4	2701	broad.mit.edu	37	1	35259970	35259970	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35259970C>T	ENST00000342280.4	+	2	244	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	52					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATCAGATTTCGAGTGTAACA	0.597																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(154-156)ttC>ttT		gap junction protein, alpha 4, 37kDa							173.0	148.0	156.0					1																	35259970		2203	4300	6503	SO:0001819	synonymous_variant	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35259970C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.156C>T	1.37:g.35259970C>T							p.F52F	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	244	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	52					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	c.156C>T	CCDS30669.1																																																																																				0.597	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		48	91	0	0	0	1	0	48	91				
COPA	1314	broad.mit.edu	37	1	160276964	160276964	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160276964G>A	ENST00000241704.7	-	14	1520	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	COPA_ENST00000368069.3_Missense_Mutation_p.R431W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	431					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.R431W(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAATGCATCCGATCTAGGACA	0.478																																						ENST00000241704.7																			1	Substitution - Missense(1)	p.R431W(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1291-1293)Cgg>Tgg		coatomer protein complex, subunit alpha							168.0	164.0	165.0					1																	160276964		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160276964G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1291C>T	1.37:g.160276964G>A	ENSP00000241704:p.Arg431Trp					COPA_ENST00000368069.3_Missense_Mutation_p.R431W	p.R431W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	1520	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		431					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.1291C>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581389	0.86748	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62364	0.05;0.03	5.46	5.46	0.80206	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.81671	-0.0827	10	0.87932	D	0	-17.1783	18.0325	0.89289	0.0:0.0:1.0:0.0	.	431;431	P53621;P53621-2	COPA_HUMAN;.	W	431	ENSP00000357048:R431W;ENSP00000241704:R431W	ENSP00000241704:R431W	R	-	1	2	COPA	158543588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.405000	0.80007	2.847000	0.97988	0.591000	0.81541	CGG		0.478	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		77	128	0	0	0	1	0	77	128				
CTR9	9646	broad.mit.edu	37	11	10785209	10785209	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10785209T>C	ENST00000361367.2	+	9	1403	c.977T>C	c.(976-978)tTt>tCt	p.F326S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	326					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GACCAAGCTTTTCAGTACTAT	0.313																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(976-978)tTt>tCt		CTR9, Paf1/RNA polymerase II complex component							95.0	98.0	97.0					11																	10785209		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10785209T>C	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.977T>C	11.37:g.10785209T>C	ENSP00000355013:p.Phe326Ser						p.F326S	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	9	1403	+			326					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.977T>C	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810107	0.70797	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T;T	0.62639	0.29;0.01	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	M	0.70595	2.14	0.80722	D	1	D	0.64830	0.994	P	0.62885	0.908	T	0.71971	-0.4431	10	0.21540	T	0.41	-17.3521	16.1657	0.81754	0.0:0.0:0.0:1.0	.	326	Q6PD62	CTR9_HUMAN	S	326;277	ENSP00000355013:F326S;ENSP00000431458:F277S	ENSP00000355013:F326S	F	+	2	0	CTR9	10741785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.886000	0.87288	2.276000	0.75962	0.528000	0.53228	TTT		0.313	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		14	29	0	0	0	1	0	14	29				
ZYG11B	79699	broad.mit.edu	37	1	53237447	53237447	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:53237447G>A	ENST00000294353.6	+	3	1096		c.e3+1		ZYG11B_ENST00000545132.1_Splice_Site|ZYG11B_ENST00000443756.2_Splice_Site	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator											breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ACATTTGAAGGTTAGACTTTA	0.363																																						ENST00000294353.6																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.e3+1		zyg-11 family member B, cell cycle regulator							69.0	70.0	70.0					1																	53237447		2203	4290	6493	SO:0001630	splice_region_variant	79699						protein binding	g.chr1:53237447G>A	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.951+1G>A	1.37:g.53237447G>A						ZYG11B_ENST00000443756.2_Splice_Site|ZYG11B_ENST00000545132.1_Splice_Site		NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN			3	1096	+								Q8N2X3|Q9H8L8	Splice_Site	SNP	ENST00000294353.6	37		CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828305	0.71143	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7646	0.91866	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZYG11B	53010035	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.498000	0.97972	2.660000	0.90430	0.644000	0.83932	.		0.363	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646	Intron	8	71	0	0	0	1	0	8	71				
ARSJ	79642	broad.mit.edu	37	4	114824392	114824392	+	Missense_Mutation	SNP	C	C	T	rs200459738		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114824392C>T	ENST00000315366.7	-	2	1704	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ARSJ_ENST00000541197.1_Missense_Mutation_p.E280K	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	280					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.E280K(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CGGTAGTGTTCGAAATACCTG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		22078	0.001		0.0	False		,,,				2504	0.0					ENST00000315366.7																			1	Substitution - Missense(1)	p.E280K(1)	large_intestine(1)	endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(838-840)Gaa>Aaa		arylsulfatase family, member J							119.0	110.0	112.0					4																	114824392		1962	4167	6129	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114824392C>T		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.838G>A	4.37:g.114824392C>T	ENSP00000320219:p.Glu280Lys					ARSJ_ENST00000541197.1_Missense_Mutation_p.E280K	p.E280K	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	1704	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	280					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.838G>A	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	C	5.021	0.189605	0.09547	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.96427	-4.01;-4.01	5.64	3.92	0.45320	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.134780	0.48286	N	0.000188	D	0.90577	0.7046	N	0.12961	0.28	0.37040	D	0.897114	P;P	0.38617	0.64;0.64	B;B	0.40199	0.265;0.322	D	0.87832	0.2645	10	0.10902	T	0.67	.	11.9815	0.53123	0.0:0.8604:0.0:0.1396	.	280;280	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	K	280	ENSP00000320219:E280K;ENSP00000438836:E280K	ENSP00000320219:E280K	E	-	1	0	ARSJ	115043841	0.998000	0.40836	0.501000	0.27601	0.948000	0.59901	2.351000	0.44071	0.745000	0.32763	0.655000	0.94253	GAA		0.418	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		29	36	0	0	0	1	0	29	36				
SLCO4C1	353189	broad.mit.edu	37	5	101576442	101576442	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101576442A>C	ENST00000310954.6	-	11	2142	c.1856T>G	c.(1855-1857)tTt>tGt	p.F619C		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGGACCATAAATTGTATTCC	0.318																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1855-1857)tTt>tGt		solute carrier organic anion transporter family, member 4C1							137.0	145.0	143.0					5																	101576442		2203	4298	6501	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101576442A>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1856T>G	5.37:g.101576442A>C	ENSP00000309741:p.Phe619Cys						p.F619C	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	11	2142	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	619						Missense_Mutation	SNP	ENST00000310954.6	37	c.1856T>G	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396771	0.25205	.	.	ENSG00000173930	ENST00000310954	T	0.40476	1.03	5.96	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.254323	0.34853	N	0.003638	T	0.37625	0.1010	L	0.60455	1.87	0.32797	N	0.500398	B	0.15473	0.013	B	0.23852	0.049	T	0.46119	-0.9214	10	0.40728	T	0.16	.	6.673	0.23078	0.5982:0.3243:0.0775:0.0	.	619	Q6ZQN7	SO4C1_HUMAN	C	619	ENSP00000309741:F619C	ENSP00000309741:F619C	F	-	2	0	SLCO4C1	101604341	0.904000	0.30761	0.959000	0.39883	0.598000	0.36846	1.446000	0.35090	1.106000	0.41623	0.533000	0.62120	TTT		0.318	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		35	70	0	0	0	1	0	35	70				
CCR8	1237	broad.mit.edu	37	3	39374588	39374588	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39374588G>A	ENST00000326306.4	+	2	904	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	CCR8_ENST00000545843.1_Missense_Mutation_p.V173M|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	256					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CCCATTCAACGTGGTTCTTTT	0.463																																						ENST00000326306.4																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(766-768)Gtg>Atg		chemokine (C-C motif) receptor 8							134.0	110.0	118.0					3																	39374588		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374588G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.766G>A	3.37:g.39374588G>A	ENSP00000326432:p.Val256Met					CCR8_ENST00000545843.1_Missense_Mutation_p.V173M|CCR8_ENST00000414803.1_3'UTR	p.V256M	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	904	+			256					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.766G>A	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	G	3.334	-0.136032	0.06711	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.74106	-0.81;-0.81	4.76	-0.495	0.12030	GPCR, rhodopsin-like superfamily (1);	0.374837	0.26300	N	0.025170	T	0.66829	0.2829	L	0.49571	1.57	0.09310	N	1	B;P	0.34815	0.294;0.47	B;B	0.42163	0.21;0.378	T	0.60403	-0.7270	10	0.66056	D	0.02	.	4.484	0.11781	0.5065:0.1733:0.3202:0.0	.	256;173	P51685;Q3KNR3	CCR8_HUMAN;.	M	256;173	ENSP00000326432:V256M;ENSP00000440474:V173M	ENSP00000326432:V256M	V	+	1	0	CCR8	39349592	0.000000	0.05858	0.402000	0.26371	0.054000	0.15201	-0.778000	0.04664	-0.001000	0.14495	-1.799000	0.00621	GTG		0.463	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		15	29	0	0	0	1	0	15	29				
OR5AP2	338675	broad.mit.edu	37	11	56409495	56409495	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56409495G>A	ENST00000302981.1	-	1	420	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	OR5AP2_ENST00000544374.1_Missense_Mutation_p.L142F	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CCAGACACGAGAACTGGGTAG	0.488																																						ENST00000544374.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(424-426)Ctc>Ttc		olfactory receptor, family 5, subfamily AP, member 2							66.0	69.0	68.0					11																	56409495		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409495G>A	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.421C>T	11.37:g.56409495G>A	ENSP00000303111:p.Leu141Phe					OR5AP2_ENST00000302981.1_Missense_Mutation_p.L141F	p.L142F			Q8NGF4	O5AP2_HUMAN			1	452	-			141					B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.424C>T	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	G	0.408	-0.914538	0.02415	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.01379	4.96;4.96	4.82	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.517985	0.16312	N	0.219973	T	0.01905	0.0060	L	0.55743	1.74	0.21105	N	0.999784	P	0.44946	0.846	B	0.42625	0.393	T	0.46965	-0.9153	10	0.51188	T	0.08	.	5.3851	0.16215	0.0781:0.1119:0.5305:0.2796	.	141	Q8NGF4	O5AP2_HUMAN	F	142;141	ENSP00000442701:L142F;ENSP00000303111:L141F	ENSP00000303111:L141F	L	-	1	0	OR5AP2	56166071	0.000000	0.05858	0.711000	0.30485	0.003000	0.03518	-0.306000	0.08178	0.570000	0.29347	0.637000	0.83480	CTC		0.488	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		18	42	0	0	0	1	0	18	42				
ZNF625	90589	broad.mit.edu	37	19	12256655	12256655	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12256655T>G	ENST00000355738.1	-	4	727	c.378A>C	c.(376-378)aaA>aaC	p.K126N	CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.K192N|ZNF625_ENST00000542938.1_Missense_Mutation_p.K126N			Q96I27	ZN625_HUMAN	zinc finger protein 625	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AAAAGTTACATTTGTAGGGTC	0.413																																						ENST00000355738.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(376-378)aaA>aaC		zinc finger protein 625							132.0	126.0	128.0					19																	12256655		2203	4300	6503	SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256655T>G	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.378A>C	19.37:g.12256655T>G	ENSP00000347977:p.Lys126Asn					ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.K126N|ZNF625_ENST00000439556.2_Missense_Mutation_p.K192N	p.K126N			Q96I27	ZN625_HUMAN			4	727	-			126					A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.378A>C		.	.	.	.	.	.	.	.	.	.	T	16.02	3.003339	0.54254	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.08546	3.08;3.08;3.08	1.13	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22781	0.0550	M	0.77103	2.36	0.09310	N	1	P;D	0.76494	0.81;0.999	B;D	0.69824	0.246;0.966	T	0.05750	-1.0866	9	0.72032	D	0.01	.	4.4398	0.11568	0.0:0.0:0.0:1.0	.	126;126	A8K8U0;Q96I27	.;ZN625_HUMAN	N	126;126;192	ENSP00000438436:K126N;ENSP00000347977:K126N;ENSP00000394380:K192N	ENSP00000347977:K126N	K	-	3	2	AC022415.5	12117655	0.021000	0.18746	0.022000	0.16811	0.757000	0.42996	-0.596000	0.05720	0.774000	0.33427	0.260000	0.18958	AAA		0.413	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		53	78	0	0	0	1	0	53	78				
FAT2	2196	broad.mit.edu	37	5	150942953	150942953	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150942953T>G	ENST00000261800.5	-	2	3519	c.3507A>C	c.(3505-3507)aaA>aaC	p.K1169N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1169	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGCTTCCCTTTGGAGCTGG	0.527																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3505-3507)aaA>aaC		FAT atypical cadherin 2							109.0	107.0	108.0					5																	150942953		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150942953T>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3507A>C	5.37:g.150942953T>G	ENSP00000261800:p.Lys1169Asn						p.K1169N	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	3519	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1169			Cadherin 10.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3507A>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	0.213	-1.035119	0.02029	.	.	ENSG00000086570	ENST00000261800	T	0.37411	1.2	5.03	-3.97	0.04094	Cadherin (4);Cadherin-like (1);	0.940200	0.08931	N	0.873014	T	0.04407	0.0121	N	0.00043	-2.47	0.21290	N	0.999735	B	0.09022	0.002	B	0.12156	0.007	T	0.30650	-0.9971	10	0.02654	T	1	.	2.8509	0.05558	0.1114:0.3723:0.2282:0.2881	.	1169	Q9NYQ8	FAT2_HUMAN	N	1169	ENSP00000261800:K1169N	ENSP00000261800:K1169N	K	-	3	2	FAT2	150923146	0.000000	0.05858	0.014000	0.15608	0.839000	0.47603	-1.462000	0.02364	-0.896000	0.03915	0.459000	0.35465	AAA		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	71	0	0	0	1	0	5	71				
EML1	2009	broad.mit.edu	37	14	100376649	100376649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:100376649C>A	ENST00000262233.6	+	12	1449	c.1310C>A	c.(1309-1311)tCa>tAa	p.S437*	EML1_ENST00000327921.9_Nonsense_Mutation_p.S425*|EML1_ENST00000334192.4_Nonsense_Mutation_p.S456*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	437	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACTGGAGATTCAAGTGGCAAC	0.343																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1309-1311)tCa>tAa		echinoderm microtubule associated protein like 1							96.0	93.0	94.0					14																	100376649		2203	4300	6503	SO:0001587	stop_gained	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100376649C>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1310C>A	14.37:g.100376649C>A	ENSP00000262233:p.Ser437*					EML1_ENST00000334192.4_Nonsense_Mutation_p.S456*|EML1_ENST00000327921.9_Nonsense_Mutation_p.S425*	p.S437*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			12	1449	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	437					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	ENST00000262233.6	37	c.1310C>A	CCDS32155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.707621|13.707621	0.99758|0.99758	.|.	.|.	ENSG00000066629|ENSG00000066629	ENST00000554386|ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46737|.	0.1408|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39981|.	-0.9587|.	3|.	.|0.02654	.|T	.|1	-10.6722|-10.6722	18.8337|18.8337	0.92151|0.92151	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	129|425;437;456;456	.|.	.|ENSP00000262233:S437X	F|S	+|+	3|2	2|0	EML1|EML1	99446402|99446402	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.948000|0.948000	0.59901|0.59901	7.651000|7.651000	0.83577|0.83577	2.443000|2.443000	0.82685|0.82685	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.343	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		8	32	1	0	2.74318e-10	1	3.35981e-10	8	32				
AHRR	57491	broad.mit.edu	37	5	354006	354006	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:354006G>A	ENST00000505113.1	+	3	280	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	AHRR_ENST00000515206.1_Missense_Mutation_p.R75Q|AHRR_ENST00000316418.5_Missense_Mutation_p.R79Q|AHRR_ENST00000512529.1_Intron	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	79	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTTACCTCCGGGTGAAGAGC	0.597																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(235-237)cGg>cAg		aryl-hydrocarbon receptor repressor							104.0	113.0	110.0					5																	354006		2115	4237	6352	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:354006G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.236G>A	5.37:g.354006G>A	ENSP00000424601:p.Arg79Gln					AHRR_ENST00000505113.1_Missense_Mutation_p.R79Q|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.R75Q	p.R79Q	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		3	280	+			79			Helix-loop-helix motif.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.236G>A	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	g	32	5.107625	0.94292	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000510400;ENST00000515206;ENST00000504625	D;D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63;-4.63	4.95	4.95	0.65309	Helix-loop-helix DNA-binding (4);	0.064498	0.64402	D	0.000007	D	0.98137	0.9385	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.98254	1.0495	9	.	.	.	.	15.6613	0.77190	0.0:0.0:1.0:0.0	.	79;79	A9YTQ3;A9YTQ3-2	AHRR_HUMAN;.	Q	79;79;75;75;75	ENSP00000424601:R79Q;ENSP00000323816:R79Q;ENSP00000428893:R75Q;ENSP00000430842:R75Q;ENSP00000429944:R75Q	.	R	+	2	0	AHRR	407006	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.174000	0.94824	2.278000	0.76064	0.491000	0.48974	CGG		0.597	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		22	51	0	0	0	1	0	22	51				
TTN	7273	broad.mit.edu	37	2	179542573	179542573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179542573C>A	ENST00000591111.1	-	144	33339	c.33115G>T	c.(33115-33117)Gaa>Taa	p.E11039*	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E11356*|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E10112*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10179	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E10112*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAACAATTTCTTCTTCAAAT	0.408																																						ENST00000589042.1																			1	Substitution - Nonsense(1)	p.E10112*(1)	large_intestine(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(34066-34068)Gaa>Taa		titin							88.0	87.0	87.0					2																	179542573		1838	4083	5921	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542573C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33115G>T	2.37:g.179542573C>A	ENSP00000465570:p.Glu11039*					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.E10112*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E11039*	p.E11356*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		146	34290	-			11039			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.34066G>T		.	.	.	.	.	.	.	.	.	.	C	60	47.406482	0.99987	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9098	0.19020	0.141:0.648:0.1364:0.0746	.	.	.	.	X	10112	.	ENSP00000343764:E10112X	E	-	1	0	TTN	179250818	0.074000	0.21230	1.000000	0.80357	0.390000	0.30446	0.500000	0.22562	2.878000	0.98634	0.650000	0.86243	GAA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	60	1	0	2.09667e-21	1	2.89385e-21	36	60				
KIF20A	10112	broad.mit.edu	37	5	137521258	137521258	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137521258T>C	ENST00000394894.3	+	16	2210	c.1984T>C	c.(1984-1986)Tca>Cca	p.S662P	KIF20A_ENST00000508792.1_Missense_Mutation_p.S644P	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	662					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGACAACAGTCAGTGGCCCA	0.517																																						ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1984-1986)Tca>Cca		kinesin family member 20A							79.0	81.0	80.0					5																	137521258		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137521258T>C	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1984T>C	5.37:g.137521258T>C	ENSP00000378356:p.Ser662Pro					KIF20A_ENST00000508792.1_Missense_Mutation_p.S644P	p.S662P	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		16	2210	+			662					B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.1984T>C	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	T	7.792	0.711701	0.15306	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.70869	-0.51;-0.52	5.1	1.06	0.20224	.	0.743865	0.11527	N	0.555102	T	0.48241	0.1489	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31503	-0.9941	10	0.30078	T	0.28	-0.519	10.3876	0.44150	0.0:0.6709:0.0:0.3291	.	644;662	B4DL79;O95235	.;KI20A_HUMAN	P	662;644	ENSP00000378356:S662P;ENSP00000420880:S644P	ENSP00000378356:S662P	S	+	1	0	KIF20A	137549157	0.000000	0.05858	0.728000	0.30774	0.810000	0.45777	-0.736000	0.04882	0.324000	0.23333	-0.479000	0.04858	TCA		0.517	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		50	72	0	0	0	1	0	50	72				
NAA15	80155	broad.mit.edu	37	4	140262166	140262166	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:140262166A>C	ENST00000296543.5	+	4	668	c.345A>C	c.(343-345)caA>caC	p.Q115H	NAA15_ENST00000398947.1_Missense_Mutation_p.Q115H|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	115					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACAATCTTCAAATCTTAAGGG	0.363																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(343-345)caA>caC		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							98.0	91.0	93.0					4																	140262166		1831	4089	5920	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140262166A>C	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.345A>C	4.37:g.140262166A>C	ENSP00000296543:p.Gln115His					NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.Q115H	p.Q115H	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			4	668	+			115					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.345A>C	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622206	0.46840	.	.	ENSG00000164134	ENST00000296543;ENST00000398947	T;T	0.54479	0.57;0.57	5.78	2.65	0.31530	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	M	0.84219	2.685	0.80722	D	1	B	0.25609	0.13	B	0.33042	0.157	T	0.58451	-0.7634	10	0.59425	D	0.04	-14.8982	8.9005	0.35493	0.7115:0.0:0.2885:0.0	.	115	Q9BXJ9	NAA15_HUMAN	H	115	ENSP00000296543:Q115H;ENSP00000381920:Q115H	ENSP00000296543:Q115H	Q	+	3	2	NAA15	140481616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.470000	0.35354	0.814000	0.34374	0.482000	0.46254	CAA		0.363	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		18	29	0	0	0	1	0	18	29				
ITGA11	22801	broad.mit.edu	37	15	68654041	68654041	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68654041G>A	ENST00000315757.7	-	5	445	c.359C>T	c.(358-360)gCc>gTc	p.A120V	ITGA11_ENST00000423218.2_Splice_Site_p.A120V|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	120					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGGGCTGCAGGCCTGGGGAGG	0.602																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.e5-1		integrin, alpha 11	Tirofiban(DB00775)						34.0	34.0	34.0					15																	68654041		1949	4138	6087	SO:0001630	splice_region_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68654041G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.358-1C>T	15.37:g.68654041G>A						ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Splice_Site_p.A120_splice	p.A120_splice			Q9UKX5	ITA11_HUMAN			5	454	-			120					J3KQM2|Q8WYI8|Q9UKQ1	Splice_Site	SNP	ENST00000315757.7	37	c.357_splice	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171426	0.94807	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.70516	-0.49;-0.49	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.82981	0.5155	M	0.76727	2.345	0.58432	D	0.999998	D;D	0.89917	1.0;0.994	D;P	0.70016	0.967;0.851	D	0.83695	0.0179	10	0.44086	T	0.13	.	16.9346	0.86200	0.0:0.0:1.0:0.0	.	120;120	A8K8T0;Q9UKX5	.;ITA11_HUMAN	V	120	ENSP00000327290:A120V;ENSP00000403392:A120V	ENSP00000327290:A120V	A	-	2	0	ITGA11	66441095	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.001000	0.88508	2.287000	0.76781	0.561000	0.74099	GCC		0.602	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	Missense_Mutation	5	18	0	0	0	1	0	5	18				
KDM3B	51780	broad.mit.edu	37	5	137754915	137754915	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137754915A>G	ENST00000314358.5	+	14	3909	c.3709A>G	c.(3709-3711)Aca>Gca	p.T1237A	KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.T893A|KDM3B_ENST00000542866.1_Missense_Mutation_p.T269A	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1237					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TAAAGAAGAAACAAAAGGTGA	0.478																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3709-3711)Aca>Gca		lysine (K)-specific demethylase 3B							58.0	60.0	60.0					5																	137754915		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137754915A>G	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3709A>G	5.37:g.137754915A>G	ENSP00000326563:p.Thr1237Ala					KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.T893A|KDM3B_ENST00000542866.1_Missense_Mutation_p.T269A	p.T1237A	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			14	3909	+			1237					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.3709A>G	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.009843	0.93346	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.71461	0.01;-0.57;-0.46	5.63	5.63	0.86233	.	0.046039	0.85682	D	0.000000	T	0.77864	0.4194	L	0.51422	1.61	0.58432	D	0.999998	D;B	0.53151	0.958;0.112	P;B	0.57776	0.827;0.168	T	0.79240	-0.1885	10	0.56958	D	0.05	-11.7967	15.8375	0.78811	1.0:0.0:0.0:0.0	.	893;1237	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	A	1237;1027;893;269	ENSP00000326563:T1237A;ENSP00000378335:T893A;ENSP00000439462:T269A	ENSP00000326563:T1237A	T	+	1	0	KDM3B	137782814	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.938000	0.63519	2.152000	0.67230	0.528000	0.53228	ACA		0.478	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		5	37	0	0	0	1	0	5	37				
PRTG	283659	broad.mit.edu	37	15	55912375	55912375	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55912375A>G	ENST00000389286.4	-	20	3335	c.3288T>C	c.(3286-3288)ggT>ggC	p.G1096G		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGTTGTCTGACCTGGGGAGC	0.488																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3286-3288)ggT>ggC		protogenin							109.0	107.0	108.0					15																	55912375		1891	4111	6002	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55912375A>G	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3288T>C	15.37:g.55912375A>G							p.G1096G	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	20	3335	-			1096						Silent	SNP	ENST00000389286.4	37	c.3288T>C	CCDS42040.1																																																																																				0.488	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		35	60	0	0	0	1	0	35	60				
PUS10	150962	broad.mit.edu	37	2	61189976	61189976	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61189976T>C	ENST00000316752.6	-	9	1034	c.773A>G	c.(772-774)gAa>gGa	p.E258G	PUS10_ENST00000407787.1_Missense_Mutation_p.E258G	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	258					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GAAATCCTCTTCCTTTATCTT	0.313																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.(772-774)gAa>gGa		pseudouridylate synthase 10							66.0	62.0	64.0					2																	61189976		2196	4295	6491	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61189976T>C	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.773A>G	2.37:g.61189976T>C	ENSP00000326003:p.Glu258Gly					PUS10_ENST00000407787.1_Missense_Mutation_p.E258G	p.E258G	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		9	1034	-			258					Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.773A>G	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352873	0.61293	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.46	5.46	0.80206	.	0.102234	0.64402	D	0.000003	T	0.51024	0.1650	L	0.54323	1.7	0.80722	D	1	P;P	0.38504	0.634;0.634	B;B	0.34242	0.178;0.178	T	0.49698	-0.8912	9	0.20519	T	0.43	1.1293	15.8338	0.78782	0.0:0.0:0.0:1.0	.	258;258	A8K6R4;Q3MIT2	.;PUS10_HUMAN	G	258	.	ENSP00000326003:E258G	E	-	2	0	PUS10	61043480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.021000	0.76425	2.199000	0.70637	0.477000	0.44152	GAA		0.313	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		7	5	0	0	0	1	0	7	5				
CDHR3	222256	broad.mit.edu	37	7	105672986	105672986	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:105672986G>A	ENST00000317716.9	+	19	2581	c.2501G>A	c.(2500-2502)aGa>aAa	p.R834K	CDHR3_ENST00000478080.1_Missense_Mutation_p.R746K|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.R834K	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	834					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GGGTCACTGAGAAGTGCCAAC	0.562																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(2500-2502)aGa>aAa		cadherin-related family member 3							87.0	92.0	90.0					7																	105672986		2080	4233	6313	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105672986G>A	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2501G>A	7.37:g.105672986G>A	ENSP00000325954:p.Arg834Lys					CDHR3_ENST00000478080.1_Missense_Mutation_p.R746K|CDHR3_ENST00000317716.9_Missense_Mutation_p.R834K|CDHR3_ENST00000343407.5_3'UTR	p.R834K			Q6ZTQ4	CDHR3_HUMAN			19	2609	+			834					Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.2501G>A	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036377	0.19669	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.54675	0.63;0.63;0.56	4.93	2.92	0.33932	.	0.830119	0.10651	N	0.649903	T	0.43765	0.1262	L	0.57536	1.79	0.09310	N	1	B;B	0.26318	0.146;0.146	B;B	0.22386	0.039;0.039	T	0.32534	-0.9903	9	.	.	.	-0.461	4.4017	0.11390	0.094:0.1558:0.5903:0.1599	.	821;834	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	K	834;834;746	ENSP00000439766:R834K;ENSP00000325954:R834K;ENSP00000417771:R746K	.	R	+	2	0	CDHR3	105460222	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	0.912000	0.28597	1.272000	0.44329	0.655000	0.94253	AGA		0.562	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		24	46	0	0	0	1	0	24	46				
ANKRD42	338699	broad.mit.edu	37	11	82909623	82909623	+	Intron	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82909623A>C	ENST00000393392.2	+	2	300				ANKRD42_ENST00000393389.3_Missense_Mutation_p.E54A|ANKRD42_ENST00000533342.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000526731.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000260047.6_Missense_Mutation_p.E54A|ANKRD42_ENST00000528722.1_5'UTR|ANKRD42_ENST00000531895.1_Missense_Mutation_p.E54A	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42						positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGCATTAATGAACTTGATGTT	0.413																																						ENST00000393389.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(160-162)gAa>gCa		ankyrin repeat domain 42							100.0	89.0	92.0					11																	82909623		2203	4300	6503	SO:0001627	intron_variant	338699							g.chr11:82909623A>C	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.138+23A>C	11.37:g.82909623A>C						ANKRD42_ENST00000533342.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000526731.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000393392.2_Intron|ANKRD42_ENST00000260047.6_Missense_Mutation_p.E54A|ANKRD42_ENST00000531895.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000528722.1_5'UTR	p.E54A			Q8N9B4	ANR42_HUMAN			2	1093	+			46					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.161A>C	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701942	0.68501	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000533342	T;T;T;T;T	0.62105	0.05;2.37;0.05;2.37;0.05	5.68	5.68	0.88126	.	.	.	.	.	T	0.76335	0.3973	.	.	.	0.35492	D	0.799095	D;D;D;D	0.76494	0.981;0.989;0.999;0.997	P;P;P;D	0.63597	0.704;0.845;0.908;0.916	T	0.82619	-0.0368	7	.	.	.	-11.5098	15.5814	0.76445	1.0:0.0:0.0:0.0	.	54;54;319;145	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0	.;.;.;.	A	373;54;54;54;54;54	ENSP00000377049:E54A;ENSP00000260047:E54A;ENSP00000433585:E54A;ENSP00000434666:E54A;ENSP00000435790:E54A	.	E	+	2	0	ANKRD42	82587271	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.235000	0.72332	2.161000	0.67846	0.533000	0.62120	GAA		0.413	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		6	20	0	0	0	1	0	6	20				
SSTR5	6755	broad.mit.edu	37	16	1129540	1129540	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1129540C>T	ENST00000293897.4	+	1	760	c.672C>T	c.(670-672)atC>atT	p.I224I	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.I224I|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	224					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ACCTGCTCATCGTGGTGAAGG	0.687																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(670-672)atC>atT		somatostatin receptor 5	Octreotide(DB00104)						81.0	77.0	79.0					16																	1129540		2192	4295	6487	SO:0001819	synonymous_variant	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129540C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.672C>T	16.37:g.1129540C>T						SSTR5_ENST00000397547.2_Silent_p.I224I|SSTR5_ENST00000562758.1_Intron	p.I224I	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	760	+		Hepatocellular(780;0.00369)	224					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.672C>T	CCDS10429.1																																																																																				0.687	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			17	25	0	0	0	1	0	17	25				
RFWD2	64326	broad.mit.edu	37	1	176132999	176132999	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176132999T>G	ENST00000367669.3	-	4	1108	c.594A>C	c.(592-594)caA>caC	p.Q198H	RFWD2_ENST00000308769.8_Missense_Mutation_p.Q198H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	198					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTCAAATCTTTGCTTCTGTT	0.284																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(592-594)caA>caC		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							48.0	47.0	48.0					1																	176132999		2203	4295	6498	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176132999T>G	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.594A>C	1.37:g.176132999T>G	ENSP00000356641:p.Gln198His					RFWD2_ENST00000308769.8_Missense_Mutation_p.Q198H	p.Q198H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			4	1108	-			198					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.594A>C	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611368	0.66558	.	.	ENSG00000143207	ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306;ENST00000436424	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.24	4.13	0.48395	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.51422	1.61	0.58432	D	0.999993	D;D;P	0.57571	0.976;0.98;0.86	P;D;P	0.66979	0.722;0.948;0.585	T	0.00699	-1.1604	10	0.40728	T	0.16	-10.1674	10.165	0.42875	0.0:0.0794:0.0:0.9206	.	198;198;198	Q8NHY2-2;Q8NHY2;Q504W6	.;RFWD2_HUMAN;.	H	198;53;198;57;198	ENSP00000356641:Q198H;ENSP00000356638:Q53H;ENSP00000310943:Q198H;ENSP00000433810:Q57H	ENSP00000310943:Q198H	Q	-	3	2	RFWD2	174399622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.879000	0.39618	1.974000	0.57490	0.482000	0.46254	CAA		0.284	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		9	23	0	0	0	1	0	9	23				
ZBTB38	253461	broad.mit.edu	37	3	141163404	141163404	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141163404C>T	ENST00000514251.1	+	4	2453	c.2174C>T	c.(2173-2175)tCg>tTg	p.S725L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S726L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S725L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CAGTTTTCATCGGTGATCATG	0.502																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2173-2175)tCg>tTg		zinc finger and BTB domain containing 38							72.0	75.0	74.0					3																	141163404		2068	4206	6274	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163404C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2174C>T	3.37:g.141163404C>T	ENSP00000426387:p.Ser725Leu					ZBTB38_ENST00000441582.2_Missense_Mutation_p.S725L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S726L	p.S725L			Q8NAP3	ZBT38_HUMAN			4	2453	+			725						Missense_Mutation	SNP	ENST00000514251.1	37	c.2174C>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	35	5.476049	0.96291	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.30714	2.6;1.53;1.53;1.52	5.55	5.55	0.83447	.	0.175829	0.39274	N	0.001410	T	0.55210	0.1906	M	0.61703	1.905	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49753	-0.8906	9	.	.	.	-15.1512	19.505	0.95111	0.0:1.0:0.0:0.0	.	726;725	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	725;725;725;726	ENSP00000424254:S725L;ENSP00000426387:S725L;ENSP00000406955:S725L;ENSP00000372635:S726L	.	S	+	2	0	ZBTB38	142646094	1.000000	0.71417	0.909000	0.35828	0.978000	0.69477	7.395000	0.79876	2.603000	0.88011	0.650000	0.86243	TCG		0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			20	61	0	0	0	1	0	20	61				
ITIH5	80760	broad.mit.edu	37	10	7614359	7614359	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7614359G>A	ENST00000397145.2	-	12	2140	c.2035C>T	c.(2035-2037)Cgt>Tgt	p.R679C	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000446830.2_Intron	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	679					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGAAGCCACGAACTGAAAAA	0.363																																						ENST00000397145.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2035-2037)Cgt>Tgt		inter-alpha-trypsin inhibitor heavy chain family, member 5							46.0	44.0	45.0					10																	7614359		1836	4083	5919	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7614359G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000397145.2:c.2035C>T	10.37:g.7614359G>A	ENSP00000380332:p.Arg679Cys					ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000256861.6_Intron	p.R679C	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN			12	2140	-			679					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000397145.2	37	c.2035C>T		.	.	.	.	.	.	.	.	.	.	G	8.203	0.798558	0.16397	.	.	ENSG00000123243	ENST00000397145	T	0.02579	4.24	3.87	1.94	0.25998	.	.	.	.	.	T	0.04452	0.0122	M	0.83774	2.66	0.09310	N	1	P	0.34615	0.459	B	0.18871	0.023	T	0.29336	-1.0015	9	0.72032	D	0.01	.	5.9213	0.19084	0.2535:0.0:0.7465:0.0	.	679	G5E9D8	.	C	679	ENSP00000380332:R679C	ENSP00000380332:R679C	R	-	1	0	ITIH5	7654365	0.034000	0.19679	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	0.554000	0.29061	-0.137000	0.14449	CGT		0.363	ITIH5-201	KNOWN	basic	protein_coding	protein_coding		NM_030569		6	16	0	0	0	1	0	6	16				
ZNF254	9534	broad.mit.edu	37	19	24309134	24309134	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24309134G>T	ENST00000357002.4	+	4	447	c.332G>T	c.(331-333)aGa>aTa	p.R111I	ZNF254_ENST00000342944.6_Missense_Mutation_p.R26I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	111					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATACTGAGAAGATATGGAAAA	0.343																																						ENST00000357002.4																			0											c.(331-333)aGa>aTa		zinc finger protein 254							56.0	59.0	58.0					19																	24309134		2202	4299	6501	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309134G>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.332G>T	19.37:g.24309134G>T	ENSP00000349494:p.Arg111Ile					ZNF254_ENST00000342944.6_Missense_Mutation_p.R26I	p.R111I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	447	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	111					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.332G>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	6.859	0.527772	0.13127	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.10573	2.86;3.16	1.09	-0.495	0.12030	.	.	.	.	.	T	0.19805	0.0476	M	0.69523	2.12	0.09310	N	1	P	0.44380	0.834	P	0.53450	0.726	T	0.14062	-1.0486	9	0.87932	D	0	.	4.1052	0.10033	0.5044:0.0:0.4956:0.0	.	111	O75437	ZN254_HUMAN	I	26;111;111	ENSP00000445527:R26I;ENSP00000349494:R111I	ENSP00000445527:R26I	R	+	2	0	ZNF254	24100974	0.000000	0.05858	0.002000	0.10522	0.110000	0.19582	-1.150000	0.03178	-0.286000	0.09076	0.313000	0.20887	AGA		0.343	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		7	40	1	0	5.18039e-06	1	5.75679e-06	7	40				
PPFIA1	8500	broad.mit.edu	37	11	70171616	70171616	+	Missense_Mutation	SNP	G	G	A	rs372608196		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:70171616G>A	ENST00000253925.7	+	5	757	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R181Q|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	181					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTGAGAGAGCGATTACGAGTA	0.353																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(541-543)cGa>cAa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1		G	GLN/ARG,GLN/ARG	1,4399	2.1+/-5.4	0,1,2199	116.0	111.0	113.0		542,542	3.2	0.4	11		113	0,8588		0,0,4294	no	missense,missense	PPFIA1	NM_003626.2,NM_177423.1	43,43	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	181/1203,181/1186	70171616	1,12987	2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70171616G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.542G>A	11.37:g.70171616G>A	ENSP00000253925:p.Arg181Gln					CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R181Q	p.R181Q	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		5	757	+			181					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.542G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712639	0.68730	2.27E-4	0.0	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.40756	1.02;1.02	5.12	3.25	0.37280	.	0.079832	0.48286	U	0.000189	T	0.44180	0.1281	M	0.74467	2.265	0.39258	D	0.964151	P;P	0.49783	0.735;0.928	B;B	0.42245	0.38;0.381	T	0.53121	-0.8483	10	0.72032	D	0.01	.	11.5139	0.50509	0.1458:0.0:0.8542:0.0	.	181;181	Q13136;Q13136-2	LIPA1_HUMAN;.	Q	181	ENSP00000253925:R181Q;ENSP00000374198:R181Q	ENSP00000253925:R181Q	R	+	2	0	PPFIA1	69849264	1.000000	0.71417	0.428000	0.26697	0.970000	0.65996	9.381000	0.97205	0.569000	0.29329	0.558000	0.71614	CGA		0.353	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		30	72	0	0	0	1	0	30	72				
PCDH9	5101	broad.mit.edu	37	13	67802265	67802265	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:67802265T>G	ENST00000377865.2	-	1	442	c.308A>C	c.(307-309)tAt>tCt	p.Y103S	PCDH9_ENST00000377861.3_Missense_Mutation_p.Y103S|PCDH9_ENST00000328454.5_Missense_Mutation_p.Y103S|PCDH9_ENST00000544246.1_Missense_Mutation_p.Y103S|PCDH9_ENST00000456367.1_Missense_Mutation_p.Y103S			Q9HC56	PCDH9_HUMAN	protocadherin 9	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTCCTCAGCATATGAGGCGCC	0.438																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(307-309)tAt>tCt		protocadherin 9							66.0	63.0	64.0					13																	67802265		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802265T>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.308A>C	13.37:g.67802265T>G	ENSP00000367096:p.Tyr103Ser					PCDH9_ENST00000377861.3_Missense_Mutation_p.Y103S|PCDH9_ENST00000328454.5_Missense_Mutation_p.Y103S|PCDH9_ENST00000456367.1_Missense_Mutation_p.Y103S|PCDH9_ENST00000377865.2_Missense_Mutation_p.Y103S	p.Y103S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	999	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	103			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.308A>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	4.119	0.020250	0.08006	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52295	0.73;0.73;0.67;0.67;0.68	6.07	6.07	0.98685	Cadherin, N-terminal (1);Cadherin (3);	0.108903	0.64402	D	0.000004	T	0.28200	0.0696	N	0.08118	0	0.47659	D	0.99948	B;B;B;B	0.29508	0.001;0.246;0.001;0.006	B;B;B;B	0.21360	0.0;0.034;0.01;0.028	T	0.13019	-1.0525	10	0.21540	T	0.41	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	103;103;103;103	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	S	103	ENSP00000442186:Y103S;ENSP00000367096:Y103S;ENSP00000401699:Y103S;ENSP00000332060:Y103S;ENSP00000367092:Y103S	ENSP00000332060:Y103S	Y	-	2	0	PCDH9	66700266	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	5.505000	0.66981	2.326000	0.78906	0.533000	0.62120	TAT		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		25	46	0	0	0	1	0	25	46				
MAGI2	9863	broad.mit.edu	37	7	77885413	77885413	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77885413G>T	ENST00000354212.4	-	10	2147	c.1894C>A	c.(1894-1896)Ctt>Att	p.L632I	MAGI2_ENST00000536571.1_Missense_Mutation_p.L464I|MAGI2_ENST00000535697.1_Missense_Mutation_p.L469I|MAGI2_ENST00000419488.1_Missense_Mutation_p.L632I|MAGI2_ENST00000522391.1_Missense_Mutation_p.L632I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	632	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGAATGTCAAGTATTTGTTTC	0.493																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1894-1896)Ctt>Att		membrane associated guanylate kinase, WW and PDZ domain containing 2							73.0	62.0	66.0					7																	77885413		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885413G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1894C>A	7.37:g.77885413G>T	ENSP00000346151:p.Leu632Ile					MAGI2_ENST00000535697.1_Missense_Mutation_p.L469I|MAGI2_ENST00000419488.1_Missense_Mutation_p.L632I|MAGI2_ENST00000522391.1_Missense_Mutation_p.L632I|MAGI2_ENST00000536571.1_Missense_Mutation_p.L464I	p.L632I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			10	2147	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	632			PDZ 3.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1894C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008900	0.75046	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.32488	U	0.006023	T	0.51568	0.1682	L	0.61387	1.9	0.58432	D	0.999998	D;B;D;D;D;D	0.89917	1.0;0.337;0.999;0.999;1.0;0.999	D;B;D;D;D;D	0.91635	0.999;0.439;0.998;0.998;0.999;0.994	T	0.50857	-0.8778	10	0.66056	D	0.02	.	12.2552	0.54619	0.0769:0.0:0.923:0.0	.	469;464;632;632;632;632	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	I	632;632;632;632;464;469	ENSP00000405766:L632I;ENSP00000346151:L632I;ENSP00000428389:L632I;ENSP00000441584:L464I;ENSP00000441603:L469I	ENSP00000346151:L632I	L	-	1	0	MAGI2	77723349	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.804000	0.55568	2.700000	0.92200	0.561000	0.74099	CTT		0.493	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		11	15	1	0	0.000673444	1	0.000709932	11	15				
L3MBTL3	84456	broad.mit.edu	37	6	130413911	130413911	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:130413911A>G	ENST00000529410.1	+	19	2019	c.1540A>G	c.(1540-1542)Aat>Gat	p.N514D	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.N489D|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.N489D|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.N489D			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	514					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGGCTGGAACAATTGCTATGA	0.423																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(1540-1542)Aat>Gat		l(3)mbt-like 3 (Drosophila)							163.0	148.0	153.0					6																	130413911		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130413911A>G	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1540A>G	6.37:g.130413911A>G	ENSP00000431962:p.Asn514Asp					L3MBTL3_ENST00000533560.1_Missense_Mutation_p.N489D|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.N489D|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.N489D	p.N514D			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	19	2019	+			514					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1540A>G	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	A	7.585	0.669537	0.14776	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.42	4.27	0.50696	.	0.456909	0.26808	N	0.022397	T	0.04003	0.0112	N	0.02169	-0.655	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42413	-0.9453	10	0.08179	T	0.78	.	5.7532	0.18158	0.7709:0.0:0.0807:0.1484	.	489;514	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	D	514;489;514;489;489;514	ENSP00000431962:N514D;ENSP00000437185:N489D;ENSP00000354526:N514D;ENSP00000357121:N489D;ENSP00000436706:N489D;ENSP00000357118:N514D	ENSP00000354526:N514D	N	+	1	0	L3MBTL3	130455604	0.002000	0.14202	0.810000	0.32431	0.755000	0.42902	1.246000	0.32803	0.908000	0.36671	0.482000	0.46254	AAT		0.423	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		13	32	0	0	0	1	0	13	32				
SMG5	23381	broad.mit.edu	37	1	156222291	156222291	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156222291G>A	ENST00000361813.5	-	19	2811	c.2667C>T	c.(2665-2667)atC>atT	p.I889I	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	889	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAGGCCATCGATCACTGGTG	0.527																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(2665-2667)atC>atT		SMG5 nonsense mediated mRNA decay factor							53.0	51.0	52.0					1																	156222291		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156222291G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2667C>T	1.37:g.156222291G>A						SMG5_ENST00000368267.4_Intron	p.I889I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			19	2811	-	Hepatocellular(266;0.158)		889			PINc.		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.2667C>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	G	8.655	0.899171	0.17686	.	.	ENSG00000198952	ENST00000420555	.	.	.	4.43	-5.7	0.02421	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-26.976	6.5625	0.22493	0.5459:0.0:0.2471:0.207	.	.	.	.	X	11	.	.	R	-	1	2	SMG5	154488915	0.000000	0.05858	0.773000	0.31616	0.900000	0.52787	-2.045000	0.01410	-1.287000	0.02381	-0.672000	0.03802	CGA		0.527	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		15	28	0	0	0	1	0	15	28				
FBXO27	126433	broad.mit.edu	37	19	39517572	39517572	+	Missense_Mutation	SNP	G	G	T	rs375252138		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39517572G>T	ENST00000292853.4	-	5	765	c.646C>A	c.(646-648)Cta>Ata	p.L216I	FBXO27_ENST00000509137.2_Missense_Mutation_p.L216I|FBXO27_ENST00000600828.1_Missense_Mutation_p.L215I	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	216	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AATTTATCTAGAACAGTCTGG	0.557																																						ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(646-648)Cta>Ata		F-box protein 27							186.0	174.0	178.0					19																	39517572		2203	4300	6503	SO:0001583	missense	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39517572G>T	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.646C>A	19.37:g.39517572G>T	ENSP00000292853:p.Leu216Ile					FBXO27_ENST00000509137.2_Missense_Mutation_p.L216I|FBXO27_ENST00000600828.1_Missense_Mutation_p.L215I	p.L216I	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	765	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		216			FBA.		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	c.646C>A	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391999	0.25118	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.34667	1.35;1.35	4.06	2.99	0.34606	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.572512	0.14399	N	0.322060	T	0.16128	0.0388	N	0.04705	-0.18	0.09310	N	1	B	0.28552	0.215	B	0.32624	0.149	T	0.29058	-1.0024	10	0.05959	T	0.93	-4.7758	8.7294	0.34489	0.0:0.0:0.7627:0.2373	.	216	Q8NI29	FBX27_HUMAN	I	216	ENSP00000292853:L216I;ENSP00000437662:L216I	ENSP00000292853:L216I	L	-	1	2	FBXO27	44209412	0.244000	0.23889	0.008000	0.14137	0.268000	0.26511	0.947000	0.29082	0.982000	0.38575	0.491000	0.48974	CTA		0.557	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			52	122	1	0	9.40368e-32	1	1.3465e-31	52	122				
IGF2BP1	10642	broad.mit.edu	37	17	47075230	47075230	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:47075230C>A	ENST00000290341.3	+	1	457	c.123C>A	c.(121-123)ttC>ttA	p.F41L	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.F41L|IGF2BP1_ENST00000515586.1_3'UTR|RP11-501C14.5_ENST00000505903.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	41	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTACGCCTTCGTGGACTGCC	0.587																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(121-123)ttC>ttA		insulin-like growth factor 2 mRNA binding protein 1							107.0	107.0	107.0					17																	47075230		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47075230C>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.123C>A	17.37:g.47075230C>A	ENSP00000290341:p.Phe41Leu					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.F41L|IGF2BP1_ENST00000515586.1_3'UTR	p.F41L	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			1	457	+			41			RRM 1.		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.123C>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716583	0.89205	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.13307	2.6;2.6	4.87	2.79	0.32731	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.92880	3.355	0.28727	N	0.902695	P;D	0.61080	0.778;0.989	P;P	0.61658	0.447;0.892	T	0.34675	-0.9819	10	0.72032	D	0.01	-22.7509	2.5953	0.04853	0.2378:0.5019:0.0:0.2603	.	41;41	C9JT33;Q9NZI8	.;IF2B1_HUMAN	L	41	ENSP00000290341:F41L;ENSP00000389135:F41L	ENSP00000290341:F41L	F	+	3	2	IGF2BP1	44430229	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.084000	0.30828	1.114000	0.41781	0.650000	0.86243	TTC		0.587	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		17	133	1	0	5.03518e-11	1	6.23768e-11	17	133				
ABCC12	94160	broad.mit.edu	37	16	48138169	48138169	+	Missense_Mutation	SNP	C	C	A	rs141043396	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48138169C>A	ENST00000311303.3	-	20	3129	c.2784G>T	c.(2782-2784)gaG>gaT	p.E928D	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	928	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCAGAAAGTTCTCTGCGTGAA	0.498																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2782-2784)gaG>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							173.0	165.0	168.0					16																	48138169		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48138169C>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2784G>T	16.37:g.48138169C>A	ENSP00000311030:p.Glu928Asp					ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	p.E928D	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			20	3129	-		all_cancers(37;0.0474)|all_lung(18;0.047)	928			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2784G>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641519	0.67244	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.89810	-2.57	5.55	4.6	0.57074	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.052063	0.85682	D	0.000000	D	0.90109	0.6910	L	0.42008	1.315	0.80722	D	1	B	0.32409	0.37	P	0.50754	0.649	D	0.88403	0.3016	10	0.44086	T	0.13	.	11.2992	0.49295	0.0:0.9148:0.0:0.0852	.	928	Q96J65	MRP9_HUMAN	D	928;846	ENSP00000311030:E928D	ENSP00000311030:E928D	E	-	3	2	ABCC12	46695670	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	0.607000	0.24209	1.333000	0.45449	0.655000	0.94253	GAG		0.498	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		51	100	1	0	2.01872e-29	1	2.87446e-29	51	100				
BMP4	652	broad.mit.edu	37	14	54418862	54418862	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:54418862T>C	ENST00000245451.4	-	3	472	c.79A>G	c.(79-81)Ata>Gta	p.I27V	BMP4_ENST00000558984.1_Missense_Mutation_p.I27V|BMP4_ENST00000417573.1_Missense_Mutation_p.I27V|BMP4_ENST00000559087.1_Missense_Mutation_p.I27V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	27					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GTCTCAGGTATCAAACTAGCA	0.587																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(79-81)Ata>Gta		bone morphogenetic protein 4							57.0	60.0	59.0					14																	54418862		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54418862T>C	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.79A>G	14.37:g.54418862T>C	ENSP00000245451:p.Ile27Val					BMP4_ENST00000558984.1_Missense_Mutation_p.I27V|BMP4_ENST00000559087.1_Missense_Mutation_p.I27V|BMP4_ENST00000417573.1_Missense_Mutation_p.I27V	p.I27V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			3	472	-			27					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.79A>G	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.742906	0.69418	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.72835	-0.69;-0.69	5.2	5.2	0.72013	.	0.341521	0.30911	N	0.008637	T	0.77096	0.4080	L	0.39397	1.21	0.58432	D	0.999998	D	0.71674	0.998	D	0.80764	0.994	T	0.74896	-0.3508	10	0.31617	T	0.26	.	14.4084	0.67099	0.0:0.0:0.0:1.0	.	27	P12644	BMP4_HUMAN	V	27	ENSP00000245451:I27V;ENSP00000394165:I27V	ENSP00000245451:I27V	I	-	1	0	BMP4	53488612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.963000	0.70372	2.194000	0.70268	0.533000	0.62120	ATA		0.587	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		4	72	0	0	0	1	0	4	72				
DOCK3	1795	broad.mit.edu	37	3	51413217	51413217	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51413217C>T	ENST00000266037.9	+	51	5474	c.5451C>T	c.(5449-5451)gtC>gtT	p.V1817V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1817					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1817V(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCAAGTGGTCGGAGCCTGCA	0.517																																						ENST00000266037.9																			1	Substitution - coding silent(1)	p.V1817V(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5449-5451)gtC>gtT		dedicator of cytokinesis 3							125.0	139.0	134.0					3																	51413217		2059	4177	6236	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51413217C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5451C>T	3.37:g.51413217C>T							p.V1817V	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	51	5474	+			1817					O15017	Silent	SNP	ENST00000266037.9	37	c.5451C>T	CCDS46835.1																																																																																				0.517	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		28	62	0	0	0	1	0	28	62				
SEPT6	23157	broad.mit.edu	37	X	118763353	118763353	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118763353G>A	ENST00000343984.5	-	9	1472	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	SEPT6_ENST00000489216.1_Missense_Mutation_p.A403V|SEPT6_ENST00000360156.7_Missense_Mutation_p.A403V|SEPT6_ENST00000394616.4_Missense_Mutation_p.A345V|SEPT6_ENST00000354416.3_Missense_Mutation_p.A403V|SEPT6_ENST00000394617.2_Missense_Mutation_p.A433V|SEPT6_ENST00000394610.1_Missense_Mutation_p.A403V|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354228.4_Missense_Mutation_p.A403V	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	403					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GAGCAGCTCAGCCGCCGTCTT	0.512			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(1207-1209)gCt>gTt		septin 6							127.0	124.0	125.0					X																	118763353		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118763353G>A	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.1208C>T	X.37:g.118763353G>A	ENSP00000341524:p.Ala403Val					SEPT6_ENST00000394616.4_Missense_Mutation_p.A345V|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394617.2_Missense_Mutation_p.A433V|SEPT6_ENST00000489216.1_Missense_Mutation_p.A403V|SEPT6_ENST00000360156.7_Missense_Mutation_p.A403V|SEPT6_ENST00000343984.5_Missense_Mutation_p.A403V|SEPT6_ENST00000354416.3_Missense_Mutation_p.A403V|SEPT6_ENST00000354228.4_Missense_Mutation_p.A403V	p.A403V	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			9	1472	-			403					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.1208C>T	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	G	7.982	0.751355	0.15778	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.41	5.41	0.78517	.	0.102964	0.64402	D	0.000003	T	0.74427	0.3715	N	0.17082	0.46	0.80722	D	1	P;B;B;B	0.43477	0.808;0.0;0.001;0.0	P;B;B;B	0.44811	0.461;0.001;0.003;0.003	T	0.71988	-0.4426	10	0.10902	T	0.67	.	17.1462	0.86767	0.0:0.0:1.0:0.0	.	433;345;403;403	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	V	403;403;403;403;403;403;345;433	ENSP00000353278:A403V;ENSP00000346169:A403V;ENSP00000418715:A403V;ENSP00000346397:A403V;ENSP00000378108:A403V;ENSP00000341524:A403V;ENSP00000378114:A345V;ENSP00000378115:A433V	ENSP00000341524:A403V	A	-	2	0	SEPT6	118647381	1.000000	0.71417	0.051000	0.19133	0.112000	0.19704	7.647000	0.83462	2.259000	0.74868	0.600000	0.82982	GCT		0.512	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		49	90	0	0	0	1	0	49	90				
TP53	7157	broad.mit.edu	37	17	7578389	7578389	+	Missense_Mutation	SNP	G	G	A	rs587782596		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7578389G>A	ENST00000269305.4	-	5	730	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	TP53_ENST00000455263.2_Missense_Mutation_p.R181C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R181C|TP53_ENST00000420246.2_Missense_Mutation_p.R181C|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C	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	181	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(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)	TCTGAGCAGCGCTCATGGTGG	0.637		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"""		63	Substitution - Missense(24)|Deletion - In frame(17)|Deletion - Frameshift(13)|Whole gene deletion(8)|Complex - insertion inframe(1)	p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)	large_intestine(13)|lung(9)|upper_aerodigestive_tract(7)|liver(6)|breast(5)|central_nervous_system(4)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|stomach(2)|biliary_tract(1)|endometrium(1)|pancreas(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	GRCh37	CM920672	TP53	M		c.(541-543)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578389		2203	4300	6503	SO:0001583	missense	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.chr17:7578389G>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.541C>T	17.37:g.7578389G>A	ENSP00000269305:p.Arg181Cys	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_ENST00000455263.2_Missense_Mutation_p.R181C|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C|TP53_ENST00000445888.2_Missense_Mutation_p.R181C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R181C	p.R181C	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)	5	673	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	181		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.541C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710022	0.48517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.83953	2.67	0.80722	D	1	B;B;D;P;B;B;P	0.71674	0.292;0.143;0.998;0.578;0.183;0.173;0.765	B;B;D;B;B;B;B	0.70227	0.078;0.072;0.968;0.104;0.192;0.144;0.182	D	0.97431	1.0015	10	0.87932	D	0	-14.2374	17.1938	0.86887	0.0:0.0:1.0:0.0	.	142;181;181;88;181;181;181	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	181;181;181;181;181;181;170;88;49;88;49	ENSP00000410739:R181C;ENSP00000352610:R181C;ENSP00000269305:R181C;ENSP00000398846:R181C;ENSP00000391127:R181C;ENSP00000391478:R181C;ENSP00000425104:R49C;ENSP00000423862:R88C	ENSP00000269305:R181C	R	-	1	0	TP53	7519114	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	7.058000	0.76676	2.735000	0.93741	0.563000	0.77884	CGC		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	44	0	0	0	1	0	16	44				
ZFYVE9	9372	broad.mit.edu	37	1	52704252	52704252	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52704252A>C	ENST00000371591.1	+	3	1294	c.1163A>C	c.(1162-1164)aAt>aCt	p.N388T	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N388T|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.N388T	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	388					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						GAATTCCTTAATATGACAGAG	0.373																																						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.(1162-1164)aAt>aCt		zinc finger, FYVE domain containing 9							77.0	75.0	75.0					1																	52704252		2203	4300	6503	SO:0001583	missense	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.chr1:52704252A>C	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.1163A>C	1.37:g.52704252A>C	ENSP00000360647:p.Asn388Thr					ZFYVE9_ENST00000361625.1_Missense_Mutation_p.N388T|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N388T|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.N388T	p.N388T	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	1335	+			388					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1163A>C	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	5.797	0.331354	0.10956	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.54479	1.06;0.57;1.07;1.07	4.29	3.13	0.36017	.	0.433119	0.18863	N	0.129063	T	0.30759	0.0775	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.001;0.001;0.004	T	0.09443	-1.0674	10	0.29301	T	0.29	.	7.4844	0.27423	0.8426:0.0:0.1574:0.0	.	388;388;388	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	T	388	ENSP00000349737:N388T;ENSP00000355358:N388T;ENSP00000287727:N388T;ENSP00000360647:N388T	ENSP00000287727:N388T	N	+	2	0	ZFYVE9	52476840	0.018000	0.18449	0.243000	0.24186	0.905000	0.53344	0.880000	0.28159	1.806000	0.52798	0.533000	0.62120	AAT		0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		31	51	0	0	0	1	0	31	51				
ZAN	7455	broad.mit.edu	37	7	100363120	100363120	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100363120C>T	ENST00000348028.3	+	0	4578				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCAGTGGCCTCGAGTGCATAC	0.617																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							44.0	47.0	46.0					7																	100363120		2109	4236	6345			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100363120C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100363120C>T						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4561	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.617	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	13	0	0	0	1	0	10	13				
CACNA1H	8912	broad.mit.edu	37	16	1255242	1255242	+	Silent	SNP	C	C	T	rs374317639		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1255242C>T	ENST00000348261.5	+	11	2828	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	CACNA1H_ENST00000565831.1_Silent_p.F860F|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Silent_p.F860F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	860					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ACAACATCTTCGACGGCATCA	0.602																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2578-2580)ttC>ttT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)	G	,	1,4117		0,1,2058	87.0	90.0	89.0		2580,2580	-5.3	0.6	16		89	0,8386		0,0,4193	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,1,6251	TT,TC,CC		0.0,0.0243,0.0080	,	860/2348,860/2354	1255242	1,12503	2059	4193	6252	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1255242C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2580C>T	16.37:g.1255242C>T						CACNA1H_ENST00000565831.1_Silent_p.F860F|CACNA1H_ENST00000358590.4_Silent_p.F860F	p.F860F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			11	2828	+		Hepatocellular(780;0.00369)	860					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.2580C>T	CCDS45375.1																																																																																				0.602	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		41	47	0	0	0	1	0	41	47				
CAST	831	broad.mit.edu	37	5	96106290	96106290	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96106290C>T	ENST00000341926.3	+	28	2237	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V	CAST_ENST00000508830.1_Missense_Mutation_p.A775V|CAST_ENST00000395813.1_Missense_Mutation_p.A775V|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000359176.4_Missense_Mutation_p.A756V|CAST_ENST00000511782.1_Missense_Mutation_p.A678V|CAST_ENST00000504465.1_Missense_Mutation_p.A620V|CAST_ENST00000509903.1_Missense_Mutation_p.A657V|CAST_ENST00000395812.2_Missense_Mutation_p.A734V|CAST_ENST00000511049.1_Missense_Mutation_p.A677V|CAST_ENST00000508608.1_Missense_Mutation_p.A738V|CAST_ENST00000515663.1_Missense_Mutation_p.A415V|CAST_ENST00000338252.3_Missense_Mutation_p.A679V|CAST_ENST00000510756.1_Missense_Mutation_p.A753V|CAST_ENST00000325674.7_Missense_Mutation_p.A740V|CAST_ENST00000309190.5_Missense_Mutation_p.A670V|CAST_ENST00000508579.1_Missense_Mutation_p.A407V			P20810	ICAL_HUMAN	calpastatin	692					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GGAGGTAAAGCGAAGGATTCA	0.393																																						ENST00000395813.1																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(2323-2325)gCg>gTg		calpastatin							105.0	98.0	100.0					5																	96106290		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96106290C>T	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.2075C>T	5.37:g.96106290C>T	ENSP00000339914:p.Ala692Val					CAST_ENST00000510756.1_Missense_Mutation_p.A753V|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000395812.2_Missense_Mutation_p.A734V|CAST_ENST00000511049.1_Missense_Mutation_p.A677V|CAST_ENST00000509903.1_Missense_Mutation_p.A657V|CAST_ENST00000508579.1_Missense_Mutation_p.A407V|CAST_ENST00000515663.1_Missense_Mutation_p.A415V|CAST_ENST00000325674.7_Missense_Mutation_p.A740V|CAST_ENST00000309190.5_Missense_Mutation_p.A670V|CAST_ENST00000359176.4_Missense_Mutation_p.A756V|CAST_ENST00000508830.1_Missense_Mutation_p.A775V|CAST_ENST00000508608.1_Missense_Mutation_p.A738V|CAST_ENST00000504465.1_Missense_Mutation_p.A620V|CAST_ENST00000511782.1_Missense_Mutation_p.A678V|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.A692V|CAST_ENST00000338252.3_Missense_Mutation_p.A679V	p.A775V			P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	30	2510	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	692					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.2324C>T		.	.	.	.	.	.	.	.	.	.	C	16.67	3.188976	0.57909	.	.	ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.20463	2.07;2.08;2.08;2.07;2.07;2.08;2.09;2.08;2.08;2.09;2.09;2.09;2.07;2.09;2.24;2.15	4.96	4.96	0.65561	.	0.430568	0.22912	N	0.054135	T	0.44456	0.1294	M	0.66939	2.045	0.80722	D	1	D;D;P;P;P;P;D;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;0.702;0.702;0.944;0.904;0.997;1.0;0.904;1.0;0.968;1.0;1.0;0.968;0.997	D;D;B;B;B;B;P;D;B;D;P;D;D;P;P	0.85130	0.99;0.972;0.086;0.086;0.23;0.23;0.804;0.996;0.23;0.996;0.503;0.997;0.987;0.503;0.804	T	0.28427	-1.0044	10	0.66056	D	0.02	-12.6313	13.8918	0.63744	0.0:1.0:0.0:0.0	.	620;738;415;414;677;657;670;651;692;740;734;756;753;775;679	E9PDE4;B7Z468;E7EQA0;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2	.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.	V	679;775;775;756;740;734;753;738;692;677;670;620;657;678;407;415	ENSP00000343421:A679V;ENSP00000425721:A775V;ENSP00000379158:A775V;ENSP00000352098:A756V;ENSP00000320319:A740V;ENSP00000379157:A734V;ENSP00000422176:A753V;ENSP00000422677:A738V;ENSP00000339914:A692V;ENSP00000421130:A677V;ENSP00000312523:A670V;ENSP00000425670:A620V;ENSP00000426946:A657V;ENSP00000423638:A678V;ENSP00000425787:A407V;ENSP00000422929:A415V	ENSP00000312523:A670V	A	+	2	0	CAST	96132046	1.000000	0.71417	0.993000	0.49108	0.318000	0.28184	3.233000	0.51311	2.740000	0.93945	0.561000	0.74099	GCG		0.393	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		6	35	0	0	0	1	0	6	35				
XCL2	6846	broad.mit.edu	37	1	168513198	168513198	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:168513198C>A	ENST00000367819.2	-	1	37	c.5G>T	c.(4-6)aGa>aTa	p.R2I		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	2					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					GATGAGAAGTCTCATGGCTGA	0.522																																						ENST00000367819.2																			0				large_intestine(1)|lung(6)|ovary(1)	8						c.(4-6)aGa>aTa		chemokine (C motif) ligand 2							115.0	104.0	108.0					1																	168513198		2203	4300	6503	SO:0001583	missense	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168513198C>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.5G>T	1.37:g.168513198C>A	ENSP00000356793:p.Arg2Ile						p.R2I	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			1	37	-	all_hematologic(923;0.215)		2						Missense_Mutation	SNP	ENST00000367819.2	37	c.5G>T	CCDS1273.1	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768215	0.15983	.	.	ENSG00000143185	ENST00000367819	T	0.03772	3.81	2.49	0.508	0.16972	.	0.254613	0.33792	N	0.004554	T	0.01523	0.0049	L	0.56769	1.78	0.27819	N	0.941877	P	0.42757	0.789	B	0.33521	0.165	T	0.46693	-0.9173	9	0.72032	D	0.01	-15.6353	4.1214	0.10108	0.0:0.6258:0.0:0.3742	.	2	Q9UBD3	XCL2_HUMAN	I	2	ENSP00000356793:R2I	ENSP00000356793:R2I	R	-	2	0	XCL2	166779822	0.924000	0.31332	0.871000	0.34182	0.120000	0.20174	0.252000	0.18278	0.367000	0.24454	0.195000	0.17529	AGA		0.522	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		20	48	1	0	7.41877e-09	1	8.8016e-09	20	48				
MYH1	4619	broad.mit.edu	37	17	10402095	10402095	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10402095G>T	ENST00000226207.5	-	30	4123	c.4029C>A	c.(4027-4029)gaC>gaA	p.D1343E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1343					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGGTCACAGTCATGGCGGG	0.507																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4027-4029)gaC>gaA		myosin, heavy chain 1, skeletal muscle, adult							112.0	103.0	106.0					17																	10402095		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10402095G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4029C>A	17.37:g.10402095G>T	ENSP00000226207:p.Asp1343Glu					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.D1343E	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			30	4123	-			1343					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4029C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667278	0.88348	.	.	ENSG00000109061	ENST00000226207	T	0.78924	-1.22	5.41	4.44	0.53790	Myosin tail (1);	0.000000	0.45606	U	0.000356	D	0.84946	0.5585	M	0.67625	2.065	0.46849	D	0.999221	D	0.71674	0.998	D	0.68765	0.96	D	0.85943	0.1459	10	0.66056	D	0.02	.	11.5691	0.50824	0.1441:0.0:0.8559:0.0	.	1343	P12882	MYH1_HUMAN	E	1343	ENSP00000226207:D1343E	ENSP00000226207:D1343E	D	-	3	2	MYH1	10342820	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.103000	0.57783	1.427000	0.47276	0.655000	0.94253	GAC		0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		31	54	1	0	1.68508e-10	1	2.06928e-10	31	54				
TTK	7272	broad.mit.edu	37	6	80717701	80717701	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80717701A>C	ENST00000369798.2	+	3	426	c.315A>C	c.(313-315)caA>caC	p.Q105H	TTK_ENST00000230510.3_Missense_Mutation_p.Q105H|TTK_ENST00000509894.1_Missense_Mutation_p.Q105H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	105					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	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)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATATGGCCAAAATGAGAGTT	0.333																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(313-315)caA>caC		TTK protein kinase							57.0	59.0	59.0					6																	80717701		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80717701A>C		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.315A>C	6.37:g.80717701A>C	ENSP00000358813:p.Gln105His					TTK_ENST00000230510.3_Missense_Mutation_p.Q105H|TTK_ENST00000369798.2_Missense_Mutation_p.Q105H	p.Q105H			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	3	1144	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	105					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.315A>C	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951049	0.34471	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000502580;ENST00000511260;ENST00000504040	D;D;D;D;D;T	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;1.4	5.66	2.07	0.26955	.	0.150410	0.64402	D	0.000010	T	0.66557	0.2801	L	0.43152	1.355	0.29146	N	0.878672	B;B	0.31241	0.315;0.174	B;B	0.23018	0.043;0.031	T	0.55964	-0.8057	10	0.36615	T	0.2	.	4.8013	0.13298	0.6121:0.1508:0.2372:0.0	.	105;105	P33981;A8K8U5	TTK_HUMAN;.	H	105	ENSP00000422936:Q105H;ENSP00000230510:Q105H;ENSP00000358813:Q105H;ENSP00000424851:Q105H;ENSP00000421636:Q105H;ENSP00000427483:Q105H	ENSP00000230510:Q105H	Q	+	3	2	TTK	80774420	0.115000	0.22152	1.000000	0.80357	0.994000	0.84299	-0.449000	0.06812	0.529000	0.28599	-0.256000	0.11100	CAA		0.333	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			21	34	0	0	0	1	0	21	34				
CAMSAP1	157922	broad.mit.edu	37	9	138709842	138709842	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138709842C>T	ENST00000389532.4	-	14	4316	c.4252G>A	c.(4252-4254)Ggg>Agg	p.G1418R	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G1140R|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G1429R|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1418					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTGTGCCCCCGGAATGAACG	0.637																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(4252-4254)Ggg>Agg		calmodulin regulated spectrin-associated protein 1							41.0	43.0	43.0					9																	138709842		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138709842C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4252G>A	9.37:g.138709842C>T	ENSP00000374183:p.Gly1418Arg					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G1429R|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G1140R	p.G1418R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	14	4316	-			1418					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.4252G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589504	0.66105	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.16073	2.38;2.37;2.38	5.29	5.29	0.74685	.	0.049522	0.85682	D	0.000000	T	0.37156	0.0993	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	T	0.09530	-1.0670	10	0.87932	D	0	-2.8997	18.9257	0.92544	0.0:1.0:0.0:0.0	.	1418;1429	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	R	1418;1140;1429	ENSP00000374183:G1418R;ENSP00000312463:G1140R;ENSP00000386420:G1429R	ENSP00000312463:G1140R	G	-	1	0	CAMSAP1	137849663	1.000000	0.71417	0.448000	0.26945	0.006000	0.05464	4.595000	0.61048	2.489000	0.83994	0.462000	0.41574	GGG		0.637	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		14	20	0	0	0	1	0	14	20				
GAD1	2571	broad.mit.edu	37	2	171715386	171715386	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171715386C>T	ENST00000358196.3	+	16	2144	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	532			R -> Q (in dbSNP:rs769402). {ECO:0000269|Ref.9}.		gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CCCTCAACGACGGGAAAAGCT	0.453																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(1594-1596)Cgg>Tgg		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						83.0	85.0	84.0					2																	171715386		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171715386C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1594C>T	2.37:g.171715386C>T	ENSP00000350928:p.Arg532Trp						p.R532W	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			16	2144	+			532		R -> Q (in dbSNP:rs769402).			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1594C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504677	0.44558	.	.	ENSG00000128683	ENST00000358196	T	0.17370	2.28	5.63	4.73	0.59995	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.174131	0.50627	D	0.000104	T	0.12092	0.0294	N	0.20845	0.615	0.80722	D	1	D	0.67145	0.996	B	0.40677	0.337	T	0.04870	-1.0921	10	0.40728	T	0.16	-7.3586	14.6086	0.68498	0.3439:0.6561:0.0:0.0	.	532	Q99259	DCE1_HUMAN	W	532	ENSP00000350928:R532W	ENSP00000350928:R532W	R	+	1	2	GAD1	171423632	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.326000	0.33735	1.322000	0.45245	0.655000	0.94253	CGG		0.453	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			11	27	0	0	0	1	0	11	27				
TFE3	7030	broad.mit.edu	37	X	48891263	48891263	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48891263C>A	ENST00000315869.7	-	7	1297	c.1038G>T	c.(1036-1038)caG>caT	p.Q346H	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	346	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TGTCTTTCTTCTGCCGTTCCT	0.557			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1036-1038)caG>caT		transcription factor binding to IGHM enhancer 3							111.0	90.0	97.0					X																	48891263		2203	4300	6503	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48891263C>A	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1038G>T	X.37:g.48891263C>A	ENSP00000314129:p.Gln346His					TFE3_ENST00000493583.1_5'UTR	p.Q346H	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			7	1297	-			346					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.1038G>T	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	c	17.14	3.314232	0.60414	.	.	ENSG00000068323	ENST00000315869	D	0.97598	-4.45	5.68	4.82	0.62117	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.84219	2.685	0.80722	D	1	P	0.37864	0.61	B	0.44163	0.443	D	0.96484	0.9358	10	0.87932	D	0	-12.5308	11.2258	0.48882	0.0:0.9094:0.0:0.0906	.	346	P19532	TFE3_HUMAN	H	346	ENSP00000314129:Q346H	ENSP00000314129:Q346H	Q	-	3	2	TFE3	48778207	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	3.098000	0.50259	1.159000	0.42565	0.462000	0.41574	CAG		0.557	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		10	19	1	0	0.00621372	1	0.0064192	10	19				
KLHL9	55958	broad.mit.edu	37	9	21334077	21334077	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21334077C>T	ENST00000359039.4	-	1	1302	c.782G>A	c.(781-783)aGa>aAa	p.R261K	KLHL9_ENST00000537938.1_Missense_Mutation_p.R193K			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	261					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATTGTCTGTTCTCATGAAATC	0.413																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(781-783)aGa>aAa		kelch-like family member 9							134.0	123.0	127.0					9																	21334077		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334077C>T	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.782G>A	9.37:g.21334077C>T	ENSP00000351933:p.Arg261Lys					KLHL9_ENST00000537938.1_Missense_Mutation_p.R193K	p.R261K			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1302	-			261					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.782G>A	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	7.676	0.688087	0.14973	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70164	-0.44;-0.46	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	L	0.46157	1.445	0.53688	D	0.999978	B	0.31351	0.32	B	0.32533	0.147	T	0.56111	-0.8033	10	0.17832	T	0.49	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	261	Q9P2J3	KLHL9_HUMAN	K	261;193	ENSP00000351933:R261K;ENSP00000437733:R193K	ENSP00000351933:R261K	R	-	2	0	KLHL9	21324077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.408000	0.80041	2.688000	0.91661	0.650000	0.86243	AGA		0.413	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		24	56	0	0	0	1	0	24	56				
FIGNL1	63979	broad.mit.edu	37	7	50514215	50514215	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50514215C>A	ENST00000419119.1	-	2	2324	c.771G>T	c.(769-771)agG>agT	p.R257S	FIGNL1_ENST00000433017.1_Missense_Mutation_p.R257S|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R257S|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R257S			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	257					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAAAGACTTCCTCTGTGGAT	0.388																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(769-771)agG>agT		fidgetin-like 1							82.0	85.0	84.0					7																	50514215		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514215C>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.771G>T	7.37:g.50514215C>A	ENSP00000410811:p.Arg257Ser					FIGNL1_ENST00000356889.4_Missense_Mutation_p.R257S|FIGNL1_ENST00000433017.1_Missense_Mutation_p.R257S|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R257S	p.R257S			Q6PIW4	FIGL1_HUMAN			2	2324	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	257					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.771G>T	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	1.936	-0.444785	0.04604	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.86	0.608	0.17569	.	0.226563	0.41194	D	0.000933	D	0.89420	0.6710	L	0.59436	1.845	0.42438	D	0.992701	B	0.17465	0.022	B	0.11329	0.006	T	0.79794	-0.1653	10	0.30078	T	0.28	-9.8519	10.0261	0.42072	0.0:0.4094:0.0:0.5906	.	257	Q6PIW4	FIGL1_HUMAN	S	257	ENSP00000349356:R257S;ENSP00000378924:R257S;ENSP00000399997:R257S;ENSP00000410811:R257S	ENSP00000349356:R257S	R	-	3	2	FIGNL1	50481709	0.675000	0.27558	0.000000	0.03702	0.008000	0.06430	0.123000	0.15708	-0.175000	0.10725	-0.794000	0.03295	AGG		0.388	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		5	59	1	0	0.014758	1	0.015099	5	59				
MAP2K3	5606	broad.mit.edu	37	17	21202199	21202199	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:21202199G>A	ENST00000342679.4	+	3	375	c.126G>A	c.(124-126)cgG>cgA	p.R42R	MAP2K3_ENST00000361818.5_Silent_p.R13R|MAP2K3_ENST00000316920.6_Silent_p.R13R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	42					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GACCCCCCCGGAACCTGGACT	0.622																																						ENST00000342679.4																			0											c.(124-126)cgG>cgA		mitogen-activated protein kinase kinase 3							74.0	71.0	72.0					17																	21202199		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21202199G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.126G>A	17.37:g.21202199G>A						MAP2K3_ENST00000316920.6_Silent_p.R13R|MAP2K3_ENST00000361818.5_Silent_p.R13R	p.R42R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	3	375	+			42					B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.126G>A	CCDS11217.1																																																																																				0.622	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		6	95	0	0	0	1	0	6	95				
TTN	7273	broad.mit.edu	37	2	179631267	179631267	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179631267C>A	ENST00000591111.1	-	41	9768	c.9544G>T	c.(9544-9546)Gat>Tat	p.D3182Y	TTN_ENST00000589042.1_Missense_Mutation_p.D3182Y|TTN_ENST00000342992.6_Missense_Mutation_p.D3182Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3182Y|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3136Y|TTN_ENST00000359218.5_Missense_Mutation_p.D3136Y|TTN_ENST00000342175.6_Missense_Mutation_p.D3136Y			Q8WZ42	TITIN_HUMAN	titin	13514					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATGCCATCTTTATACCAG	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9544-9546)Gat>Tat		titin							141.0	128.0	132.0					2																	179631267		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179631267C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9544G>T	2.37:g.179631267C>A	ENSP00000465570:p.Asp3182Tyr					TTN_ENST00000342175.6_Missense_Mutation_p.D3136Y|TTN_ENST00000359218.5_Missense_Mutation_p.D3136Y|TTN_ENST00000342992.6_Missense_Mutation_p.D3182Y|TTN_ENST00000360870.5_Missense_Mutation_p.D3182Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3136Y|TTN_ENST00000591111.1_Missense_Mutation_p.D3182Y	p.D3182Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		41	9768	-			2917					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.9544G>T		.	.	.	.	.	.	.	.	.	.	C	13.84	2.356757	0.41801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35219	0.0924	M	0.82323	2.585	0.37047	D	0.897437	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.78314	0.979;0.979;0.979;0.979;0.991	T	0.32877	-0.9890	9	0.87932	D	0	.	19.8277	0.96624	0.0:1.0:0.0:0.0	.	3136;3136;3136;3182;3182	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	3182;3136;3136;3136;3136;3182	ENSP00000343764:D3182Y;ENSP00000434586:D3136Y;ENSP00000340554:D3136Y;ENSP00000352154:D3136Y;ENSP00000354117:D3182Y	ENSP00000340554:D3136Y	D	-	1	0	TTN	179339512	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.745000	0.68672	2.695000	0.91970	0.591000	0.81541	GAT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	26	1	0	2.94398e-08	1	3.45884e-08	20	26				
DNAH11	8701	broad.mit.edu	37	7	21675657	21675657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21675657C>T	ENST00000409508.3	+	26	4700	c.4669C>T	c.(4669-4671)Cga>Tga	p.R1557*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R1562*|DNAH11_ENST00000465593.1_3'UTR	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1562	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGATATTCGAATCCAGCT	0.388									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4684-4686)Cga>Tga		dynein, axonemal, heavy chain 11							85.0	80.0	81.0					7																	21675657		1865	4101	5966	SO:0001587	stop_gained	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21675657C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4669C>T	7.37:g.21675657C>T	ENSP00000475939:p.Arg1557*					DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R1557*	p.R1562*			Q96DT5	DYH11_HUMAN			26	4715	+			1562			Stem (By similarity).		Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.4684C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.217168	0.99361	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.56	4.62	0.57501	.	0.154257	0.43919	D	0.000507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2773	0.49174	0.3324:0.6676:0.0:0.0	.	.	.	.	X	1562	.	ENSP00000330671:R1562X	R	+	1	2	DNAH11	21642182	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.183000	0.32041	2.596000	0.87737	0.650000	0.86243	CGA		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	12	0	0	0	1	0	4	12				
GPR116	221395	broad.mit.edu	37	6	46826811	46826811	+	Missense_Mutation	SNP	C	C	A	rs144073167		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46826811C>A	ENST00000283296.7	-	17	3117	c.2829G>T	c.(2827-2829)aaG>aaT	p.K943N	GPR116_ENST00000545669.1_Missense_Mutation_p.K372N|GPR116_ENST00000456426.2_Missense_Mutation_p.K801N|GPR116_ENST00000362015.4_Missense_Mutation_p.K943N|GPR116_ENST00000265417.7_Missense_Mutation_p.K943N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	943					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCTATTGTTCTTAAAAGTCA	0.473																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2827-2829)aaG>aaT		G protein-coupled receptor 116							108.0	100.0	103.0					6																	46826811		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826811C>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2829G>T	6.37:g.46826811C>A	ENSP00000283296:p.Lys943Asn					GPR116_ENST00000456426.2_Missense_Mutation_p.K801N|GPR116_ENST00000362015.4_Missense_Mutation_p.K943N|GPR116_ENST00000265417.7_Missense_Mutation_p.K943N|GPR116_ENST00000545669.1_Missense_Mutation_p.K372N	p.K943N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3117	-			943					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2829G>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421952	0.25639	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.32	2.54	0.30619	.	0.095575	0.45867	D	0.000328	T	0.35189	0.0923	M	0.66939	2.045	0.28758	N	0.901065	P;B;D;B;D	0.65815	0.539;0.249;0.995;0.364;0.995	B;B;P;B;P	0.59357	0.19;0.085;0.856;0.176;0.856	T	0.18272	-1.0342	10	0.46703	T	0.11	-23.6097	5.047	0.14488	0.1336:0.5011:0.0:0.3653	.	372;498;943;801;943	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	N	943;943;943;801;314;943;372	ENSP00000283296:K943N;ENSP00000354563:K943N;ENSP00000412866:K801N;ENSP00000265417:K943N;ENSP00000441581:K372N	ENSP00000265417:K943N	K	-	3	2	GPR116	46934770	0.047000	0.20315	0.996000	0.52242	0.757000	0.42996	-0.247000	0.08866	0.225000	0.20959	0.555000	0.69702	AAG		0.473	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		24	45	1	0	7.33628e-21	1	1.00811e-20	24	45				
PLCL1	5334	broad.mit.edu	37	2	198950849	198950849	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:198950849C>T	ENST00000428675.1	+	2	3006	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	PLCL1_ENST00000437704.2_Missense_Mutation_p.R772W	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	870					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAGAAAGTTCGGGAATATAC	0.418																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2608-2610)Cgg>Tgg		phospholipase C-like 1	Quinacrine(DB01103)						94.0	80.0	85.0					2																	198950849		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950849C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2608C>T	2.37:g.198950849C>T	ENSP00000402861:p.Arg870Trp					PLCL1_ENST00000437704.2_Missense_Mutation_p.R772W	p.R870W	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	3006	+			870					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2608C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580704	0.46006	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.20598	2.06;2.09	5.41	4.47	0.54385	.	0.000000	0.56097	D	0.000023	T	0.44891	0.1315	M	0.83953	2.67	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.65140	0.932;0.932	T	0.39251	-0.9623	9	.	.	.	.	11.384	0.49773	0.3442:0.6558:0.0:0.0	.	870;796	Q15111;B4DYZ4	PLCL1_HUMAN;.	W	870;772	ENSP00000402861:R870W;ENSP00000414138:R772W	.	R	+	1	2	PLCL1	198659094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.613000	0.46351	2.814000	0.96858	0.591000	0.81541	CGG		0.418	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		16	43	0	0	0	1	0	16	43				
ZBTB41	360023	broad.mit.edu	37	1	197128599	197128599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197128599G>A	ENST00000367405.4	-	10	2688	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	874					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGTTCAGGTCGAACTGGGTGA	0.408																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(2620-2622)Cga>Tga		zinc finger and BTB domain containing 41							215.0	218.0	217.0					1																	197128599		2203	4299	6502	SO:0001587	stop_gained	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128599G>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2620C>T	1.37:g.197128599G>A	ENSP00000356375:p.Arg874*					ZBTB41_ENST00000467322.1_5'UTR	p.R874*	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			10	2688	-			874					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Nonsense_Mutation	SNP	ENST00000367405.4	37	c.2620C>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	37	6.042350	0.97231	.	.	ENSG00000177888	ENST00000367405	.	.	.	5.63	5.63	0.86233	.	0.000000	0.36200	N	0.002722	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.405	0.67075	0.0:0.0:0.8166:0.1834	.	.	.	.	X	874	.	ENSP00000356375:R874X	R	-	1	2	ZBTB41	195395222	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.475000	0.66787	2.657000	0.90304	0.591000	0.81541	CGA		0.408	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		38	98	0	0	0	1	0	38	98				
OR1S2	219958	broad.mit.edu	37	11	57971527	57971527	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57971527G>T	ENST00000302592.6	-	1	126	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CTCAGGAAAAGCACAAAGAGG	0.453																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(127-129)Ctt>Att		olfactory receptor, family 1, subfamily S, member 2							181.0	172.0	175.0					11																	57971527		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971527G>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.127C>A	11.37:g.57971527G>T	ENSP00000305469:p.Leu43Ile						p.L43I	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	126	-		Breast(21;0.0589)	43					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.127C>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	9.508	1.105099	0.20632	.	.	ENSG00000197887	ENST00000302592	T	0.16457	2.34	4.25	1.15	0.20763	.	0.320705	0.22463	N	0.059730	T	0.11750	0.0286	L	0.41027	1.25	0.18873	N	0.999982	B	0.23591	0.088	B	0.21708	0.036	T	0.20140	-1.0284	10	0.54805	T	0.06	.	4.1225	0.10112	0.1797:0.0:0.4823:0.3381	.	43	Q8NGQ3	OR1S2_HUMAN	I	43	ENSP00000305469:L43I	ENSP00000305469:L43I	L	-	1	0	OR1S2	57728103	0.000000	0.05858	0.616000	0.29078	0.761000	0.43186	-0.501000	0.06398	0.133000	0.18654	0.650000	0.86243	CTT		0.453	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		44	76	1	0	2.2871e-25	1	3.22072e-25	44	76				
MUC17	140453	broad.mit.edu	37	7	100685698	100685698	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100685698C>A	ENST00000306151.4	+	3	11065	c.11001C>A	c.(10999-11001)atC>atA	p.I3667I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3667	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGATCACTTCTACCC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10999-11001)atC>atA		mucin 17, cell surface associated							202.0	179.0	187.0					7																	100685698		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685698C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11001C>A	7.37:g.100685698C>A							p.I3667I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11065	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3667			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.11001C>A	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		84	150	1	0	1.59627e-33	1	2.29092e-33	84	150				
TNFRSF10A	8797	broad.mit.edu	37	8	23049432	23049432	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:23049432G>A	ENST00000221132.3	-	10	1246	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	RP11-1149O23.2_ENST00000518308.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	394	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TGACCACATCGATCTCATTTT	0.527																																						ENST00000221132.3																			0				NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(1180-1182)atC>atT		tumor necrosis factor receptor superfamily, member 10a							149.0	122.0	131.0					8																	23049432		2203	4300	6503	SO:0001819	synonymous_variant	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23049432G>A	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1182C>T	8.37:g.23049432G>A							p.I394I	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	10	1246	-		Prostate(55;0.0421)|Breast(100;0.14)	394			Death.		A8K5I4|Q53Y72|Q96E62	Silent	SNP	ENST00000221132.3	37	c.1182C>T	CCDS6039.1																																																																																				0.527	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		37	71	0	0	0	1	0	37	71				
NSD1	64324	broad.mit.edu	37	5	176665324	176665324	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176665324T>G	ENST00000439151.2	+	7	4053	c.4008T>G	c.(4006-4008)atT>atG	p.I1336M	NSD1_ENST00000347982.4_Missense_Mutation_p.I1067M|NSD1_ENST00000361032.4_Missense_Mutation_p.I1233M|NSD1_ENST00000354179.4_Missense_Mutation_p.I1067M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1336					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATTCTTTGATTTCAACCAAAG	0.502			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4006-4008)atT>atG		nuclear receptor binding SET domain protein 1							93.0	99.0	97.0					5																	176665324		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176665324T>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4008T>G	5.37:g.176665324T>G	ENSP00000395929:p.Ile1336Met	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.I1067M|NSD1_ENST00000361032.4_Missense_Mutation_p.I1233M|NSD1_ENST00000347982.4_Missense_Mutation_p.I1067M	p.I1336M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	7	4053	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1336					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4008T>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360000	0.61403	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94138	-3.26;-3.26;-3.26;-3.36	5.19	1.25	0.21368	.	0.396419	0.24422	N	0.038667	D	0.89255	0.6663	N	0.19112	0.55	0.25718	N	0.985409	D;D;P	0.61080	0.969;0.989;0.947	P;P;B	0.54100	0.742;0.673;0.355	T	0.82129	-0.0610	10	0.66056	D	0.02	.	6.0152	0.19598	0.158:0.0:0.3292:0.5128	.	1067;1233;1336	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	M	1067;1336;1067;1233	ENSP00000346111:I1067M;ENSP00000395929:I1336M;ENSP00000343209:I1067M;ENSP00000354310:I1233M	ENSP00000343209:I1067M	I	+	3	3	NSD1	176597930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.011000	0.29911	0.069000	0.16605	0.533000	0.62120	ATT		0.502	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		21	85	0	0	0	1	0	21	85				
ARHGEF25	115557	broad.mit.edu	37	12	58010626	58010626	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58010626A>C	ENST00000286494.4	+	15	2152	c.1692A>C	c.(1690-1692)aaA>aaC	p.K564N	ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K603N	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	564						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CAACTCCAAAAACCCCTCCCT	0.537																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1690-1692)aaA>aaC		Rho guanine nucleotide exchange factor (GEF) 25							106.0	118.0	114.0					12																	58010626		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010626A>C		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1692A>C	12.37:g.58010626A>C	ENSP00000286494:p.Lys564Asn					AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000477314.1_3'UTR|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K603N|AC025165.8_ENST00000593846.1_RNA	p.K564N	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			15	2152	+			564					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1692A>C	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	N	0.014	-1.583909	0.00872	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.37752	1.21;1.18	4.83	-1.87	0.07737	.	1.093990	0.07176	N	0.853231	T	0.10035	0.0246	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24512	-1.0158	10	0.15952	T	0.53	.	0.2732	0.00234	0.265:0.2396:0.2548:0.2406	.	603;564	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	N	603;564	ENSP00000335560:K603N;ENSP00000286494:K564N	ENSP00000286494:K564N	K	+	3	2	ARHGEF25	56296893	0.000000	0.05858	0.045000	0.18777	0.610000	0.37248	-0.250000	0.08830	-0.145000	0.11294	-1.214000	0.01621	AAA		0.537	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		56	94	0	0	0	1	0	56	94				
ARFGEF2	10564	broad.mit.edu	37	20	47630161	47630161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47630161C>T	ENST00000371917.4	+	29	3979	c.3979C>T	c.(3979-3981)Cga>Tga	p.R1327*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1327					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTCTGGGTCCGAGGCTGGTT	0.458																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3979-3981)Cga>Tga		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							124.0	119.0	121.0					20																	47630161		2203	4300	6503	SO:0001587	stop_gained	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47630161C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3979C>T	20.37:g.47630161C>T	ENSP00000360985:p.Arg1327*						p.R1327*	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		29	3979	+			1327					Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	c.3979C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	42	9.456242	0.99175	.	.	ENSG00000124198	ENST00000371917	.	.	.	5.7	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7436	0.62862	0.3472:0.6528:0.0:0.0	.	.	.	.	X	1327	.	ENSP00000360985:R1327X	R	+	1	2	ARFGEF2	47063568	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.117000	0.64667	1.348000	0.45733	0.491000	0.48974	CGA		0.458	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		32	46	0	0	0	1	0	32	46				
NFIL3	4783	broad.mit.edu	37	9	94172299	94172299	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94172299T>C	ENST00000297689.3	-	2	1112	c.718A>G	c.(718-720)Aca>Gca	p.T240A		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	240					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						ATGGACGCTGTGTAAGAGCCT	0.488																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(718-720)Aca>Gca		nuclear factor, interleukin 3 regulated							127.0	127.0	127.0					9																	94172299		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172299T>C	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.718A>G	9.37:g.94172299T>C	ENSP00000297689:p.Thr240Ala						p.T240A	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	1112	-			240					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.718A>G	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	T	0.949	-0.707098	0.03230	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	-4.86	0.03132	Vertebrate interleukin-3 regulated transcription factor (1);	1.183400	0.06237	N	0.689728	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21861	-1.0233	9	0.27785	T	0.31	-0.652	5.6188	0.17446	0.0785:0.1026:0.2408:0.5781	.	240	Q16649	NFIL3_HUMAN	A	240	.	ENSP00000297689:T240A	T	-	1	0	NFIL3	93212120	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.268000	0.08607	-0.710000	0.05001	-0.441000	0.05720	ACA		0.488	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		26	56	0	0	0	1	0	26	56				
ZNF700	90592	broad.mit.edu	37	19	12059468	12059468	+	Missense_Mutation	SNP	G	G	A	rs375165208		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12059468G>A	ENST00000254321.5	+	4	772	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Missense_Mutation_p.R192Q	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAAGCATTCGAAGACACATG	0.378																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(574-576)cGa>cAa		zinc finger protein 700		G	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	89.0	94.0	92.0		629	-0.6	0.0	19		92	0,8600		0,0,4300	no	missense	ZNF700	NM_144566.1	43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	210/743	12059468	3,13003	2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059468G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.629G>A	19.37:g.12059468G>A	ENSP00000254321:p.Arg210Gln					CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.R210Q|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	p.R192Q			Q9H0M5	ZN700_HUMAN			3	993	+			210					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.575G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	2.494	-0.316794	0.05386	6.81E-4	0.0	ENSG00000196757	ENST00000254321	T	0.07444	3.19	0.554	-0.601	0.11638	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.25286	0.73	0.09310	N	1	B	0.21905	0.062	B	0.17722	0.019	T	0.47235	-0.9133	9	0.10902	T	0.67	.	3.7097	0.08414	0.6262:0.0:0.3738:0.0	.	210	Q9H0M5	ZN700_HUMAN	Q	210	ENSP00000254321:R210Q	ENSP00000254321:R210Q	R	+	2	0	ZNF700	11920468	0.000000	0.05858	0.031000	0.17742	0.346000	0.29079	-0.806000	0.04525	-0.289000	0.09038	0.305000	0.20034	CGA		0.378	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		32	67	0	0	0	1	0	32	67				
OR10V1	390201	broad.mit.edu	37	11	59480843	59480843	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59480843G>T	ENST00000307552.2	-	1	494	c.476C>A	c.(475-477)cCa>cAa	p.P159Q	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AATGGTGAGTGGCAGTGACAA	0.532																																						ENST00000307552.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(475-477)cCa>cAa		olfactory receptor, family 10, subfamily V, member 1							86.0	74.0	78.0					11																	59480843		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480843G>T	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.476C>A	11.37:g.59480843G>T	ENSP00000302199:p.Pro159Gln						p.P159Q	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN			1	494	-			159					Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.476C>A	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	G	0.752	-0.772480	0.02951	.	.	ENSG00000172289	ENST00000307552	T	0.51325	0.71	4.57	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.396131	0.21546	N	0.072806	T	0.34250	0.0891	L	0.33753	1.03	0.30993	N	0.721146	B	0.25667	0.131	B	0.29353	0.101	T	0.32375	-0.9909	10	0.36615	T	0.2	.	6.7553	0.23510	0.2234:0.0:0.7766:0.0	.	159	Q8NGI7	O10V1_HUMAN	Q	159	ENSP00000302199:P159Q	ENSP00000302199:P159Q	P	-	2	0	OR10V1	59237419	0.000000	0.05858	0.208000	0.23602	0.084000	0.17831	0.226000	0.17776	1.210000	0.43336	-0.420000	0.06012	CCA		0.532	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		5	53	1	0	1	1	1	5	53				
ROCK2	9475	broad.mit.edu	37	2	11337450	11337450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:11337450G>A	ENST00000315872.6	-	27	3752	c.3304C>T	c.(3304-3306)Cga>Tga	p.R1102*	ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R859*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1102					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGTTCAATTCGAATCTGGCTC	0.368																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(3304-3306)Cga>Tga		Rho-associated, coiled-coil containing protein kinase 2							109.0	99.0	102.0					2																	11337450		1907	4134	6041	SO:0001587	stop_gained	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11337450G>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3304C>T	2.37:g.11337450G>A	ENSP00000317985:p.Arg1102*					ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R859*	p.R1102*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	27	3752	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1102					Q53QZ0|Q53SJ7|Q9UQN5	Nonsense_Mutation	SNP	ENST00000315872.6	37	c.3304C>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	46	12.105282	0.99636	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	15.2303	0.73383	0.0:0.0:0.7929:0.2071	.	.	.	.	X	1102;859;460	.	ENSP00000317985:R1102X	R	-	1	2	ROCK2	11254901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.649000	0.67936	2.700000	0.92200	0.563000	0.77884	CGA		0.368	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			16	33	0	0	0	1	0	16	33				
RPGRIP1	57096	broad.mit.edu	37	14	21793213	21793213	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21793213C>T	ENST00000400017.2	+	14	2199	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	RPGRIP1_ENST00000307974.4_Silent_p.G92G|RPGRIP1_ENST00000206660.6_Silent_p.G733G|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Silent_p.G695G|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	733					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGTCCATGGCTTGGCCACAC	0.512																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2197-2199)ggC>ggT		retinitis pigmentosa GTPase regulator interacting protein 1							114.0	106.0	109.0					14																	21793213		1993	4169	6162	SO:0001819	synonymous_variant	57096				response to stimulus|visual perception	cilium		g.chr14:21793213C>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2199C>T	14.37:g.21793213C>T						RPGRIP1_ENST00000557771.1_Silent_p.G695G|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Silent_p.G92G|RPGRIP1_ENST00000400017.2_Silent_p.G733G|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron	p.G733G			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	2199	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	733					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	c.2199C>T	CCDS45080.1																																																																																				0.512	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		32	75	0	0	0	1	0	32	75				
ABCC8	6833	broad.mit.edu	37	11	17448598	17448598	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17448598G>A	ENST00000389817.3	-	16	2288	c.2220C>T	c.(2218-2220)agC>agT	p.S740S	ABCC8_ENST00000302539.4_Silent_p.S740S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	740	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGTATTACCTGCTCCAGAAGA	0.557																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2218-2220)agC>agT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						74.0	68.0	70.0					11																	17448598		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17448598G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2220C>T	11.37:g.17448598G>A						ABCC8_ENST00000389817.3_Silent_p.S740S	p.S740S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	16	2345	-			740			ABC transporter 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.2220C>T	CCDS31437.1																																																																																				0.557	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		15	25	0	0	0	1	0	15	25				
CASP8	841	broad.mit.edu	37	2	202137360	202137360	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202137360G>T	ENST00000432109.2	+	5	600		c.e5-1		CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000358485.4_Splice_Site|CASP8_ENST00000323492.7_Splice_Site	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTCCTCTTAGAACCTGCTGG	0.408										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.e4-1		caspase 8, apoptosis-related cysteine peptidase							99.0	104.0	102.0					2																	202137360		2203	4300	6503	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202137360G>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.412-1G>T	2.37:g.202137360G>T		HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site		NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			4	784	+								O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	SNP	ENST00000432109.2	37		CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	8.825	0.938586	0.18206	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.969	0.86294	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASP8	201845605	1.000000	0.71417	0.514000	0.27761	0.071000	0.16799	6.789000	0.75110	2.682000	0.91365	0.585000	0.79938	.		0.408	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Intron	41	73	1	0	6.2361e-21	1	8.5756e-21	41	73				
TRAPPC6B	122553	broad.mit.edu	37	14	39639223	39639223	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:39639223T>C	ENST00000330149.5	-	1	303	c.77A>G	c.(76-78)gAg>gGg	p.E26G	TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.E26G	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	26					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		ACTCACCACCTCCCCCTGCTC	0.547																																						ENST00000330149.5																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(76-78)gAg>gGg		trafficking protein particle complex 6B							189.0	142.0	158.0					14																	39639223		2203	4300	6503	SO:0001583	missense	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39639223T>C	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"""Trafficking protein particle complex"""	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.77A>G	14.37:g.39639223T>C	ENSP00000330289:p.Glu26Gly					TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.E26G	p.E26G	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	1	303	-	Hepatocellular(127;0.213)		26					B3KPS2|Q5JPD6|Q86U35|Q86X35	Missense_Mutation	SNP	ENST00000330149.5	37	c.77A>G	CCDS41947.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907923	0.72868	.	.	ENSG00000182400	ENST00000330149;ENST00000347691;ENST00000554018	T;T;T	0.50813	0.73;0.73;0.73	5.33	5.33	0.75918	NO signalling/Golgi transport  ligand-binding domain (1);	0.096704	0.64402	D	0.000001	T	0.29749	0.0743	N	0.10685	0.025	0.80722	D	1	B;B;B	0.32876	0.0;0.388;0.154	B;B;B	0.31442	0.0;0.118;0.13	T	0.20773	-1.0265	10	0.45353	T	0.12	.	15.1314	0.72527	0.0:0.0:0.0:1.0	.	26;26;26	B4DFZ8;Q86SZ2-2;Q86SZ2	.;.;TPC6B_HUMAN	G	26	ENSP00000330289:E26G;ENSP00000335171:E26G;ENSP00000450670:E26G	ENSP00000330289:E26G	E	-	2	0	TRAPPC6B	38708974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.441000	0.52893	2.240000	0.73641	0.533000	0.62120	GAG		0.547	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452		7	38	0	0	0	1	0	7	38				
DRD2	1813	broad.mit.edu	37	11	113285165	113285165	+	Missense_Mutation	SNP	C	C	T	rs201628227		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113285165C>T	ENST00000362072.3	-	6	1086	c.742G>A	c.(742-744)Gag>Aag	p.E248K	DRD2_ENST00000535984.1_5'UTR|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000544518.1_Missense_Mutation_p.E247K|DRD2_ENST00000355319.2_Missense_Mutation_p.E248K|DRD2_ENST00000542968.1_Missense_Mutation_p.E248K|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000538967.1_Missense_Mutation_p.E248K	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	248	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCATGTCCTCGGGGTGAGTA	0.567																																						ENST00000362072.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(742-744)Gag>Aag		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						159.0	149.0	152.0					11																	113285165		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113285165C>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.742G>A	11.37:g.113285165C>T	ENSP00000354859:p.Glu248Lys					DRD2_ENST00000542968.1_Missense_Mutation_p.E248K|DRD2_ENST00000538967.1_Missense_Mutation_p.E248K|DRD2_ENST00000355319.2_Missense_Mutation_p.E248K|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000544518.1_Missense_Mutation_p.E247K	p.E248K	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	6	1086	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	248			Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.742G>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694622	0.68386	.	.	ENSG00000149295	ENST00000355319;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T	0.73152	-0.71;-0.69;-0.72;-0.69;-0.71	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.093450	0.64402	D	0.000001	T	0.66819	0.2828	L	0.60845	1.875	0.80722	D	1	B;B;B	0.32283	0.362;0.362;0.075	B;B;B	0.24155	0.051;0.051;0.042	T	0.65639	-0.6119	10	0.33141	T	0.24	.	18.904	0.92453	0.0:1.0:0.0:0.0	.	247;248;248	F8VUV1;P14416-3;P14416	.;.;DRD2_HUMAN	K	248;248;247;248;248	ENSP00000347474:E248K;ENSP00000354859:E248K;ENSP00000441068:E247K;ENSP00000442172:E248K;ENSP00000438215:E248K	ENSP00000347474:E248K	E	-	1	0	DRD2	112790375	1.000000	0.71417	0.968000	0.41197	0.993000	0.82548	7.625000	0.83145	2.451000	0.82905	0.462000	0.41574	GAG		0.567	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		58	103	0	0	0	1	0	58	103				
DTX3	196403	broad.mit.edu	37	12	58002452	58002452	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58002452A>C	ENST00000548198.1	+	4	2404	c.900A>C	c.(898-900)acA>acC	p.T300T	DTX3_ENST00000337737.3_Silent_p.T300T|ARHGEF25_ENST00000286494.4_5'Flank|DTX3_ENST00000548804.1_Silent_p.T300T|DTX3_ENST00000551632.1_Silent_p.T303T|ARHGEF25_ENST00000333972.7_5'Flank			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	300					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCATGACCACAGGGAGACCGA	0.597																																						ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(898-900)acA>acC		deltex homolog 3 (Drosophila)							67.0	73.0	71.0					12																	58002452		2162	4265	6427	SO:0001819	synonymous_variant	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58002452A>C	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.900A>C	12.37:g.58002452A>C						DTX3_ENST00000548804.1_Silent_p.T300T|DTX3_ENST00000551632.1_Silent_p.T303T|DTX3_ENST00000337737.3_Silent_p.T300T	p.T300T			Q8N9I9	DTX3_HUMAN			4	2404	+	Melanoma(17;0.122)		300					Q53ZZ2|Q8NAU6|Q8NDS8	Silent	SNP	ENST00000548198.1	37	c.900A>C	CCDS41800.1																																																																																				0.597	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		10	25	0	0	0	1	0	10	25				
MAN1A2	10905	broad.mit.edu	37	1	118042105	118042105	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118042105G>T	ENST00000356554.3	+	11	2341	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	536					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGAAGTAATTGAAACCTATTG	0.453																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27						c.(1606-1608)Gaa>Taa		mannosidase, alpha, class 1A, member 2							81.0	78.0	79.0					1																	118042105		2203	4300	6503	SO:0001587	stop_gained	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:118042105G>T	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1606G>T	1.37:g.118042105G>T	ENSP00000348959:p.Glu536*						p.E536*	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	11	2341	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	536					Q9H510	Nonsense_Mutation	SNP	ENST00000356554.3	37	c.1606G>T	CCDS895.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	36|36|36	5.845408|5.845408|5.845408	0.97016|0.97016|0.97016	.|.|.	.|.|.	ENSG00000198162|ENSG00000198162|ENSG00000198162	ENST00000356554;ENST00000369450;ENST00000329466|ENST00000449370|ENST00000421535	.|.|.	.|.|.	.|.|.	5.18|5.18|5.18	5.18|5.18|5.18	0.71444|0.71444|0.71444	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|.	.|0.64338|.	.|0.2589|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.64584|.	.|-0.6373|.	.|3|.	0.87932|.|.	D|.|.	0|.|.	-24.3336|-24.3336|-24.3336	16.1857|16.1857|16.1857	0.81950|0.81950|0.81950	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|F|L	536;300;70|268|102	.|.|.	ENSP00000358462:E70X|.|.	E|L|X	+|+|+	1|3|2	0|2|2	MAN1A2|MAN1A2|MAN1A2	117843628|117843628|117843628	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	9.827000|9.827000|9.827000	0.99397|0.99397|0.99397	2.422000|2.422000|2.422000	0.82143|0.82143|0.82143	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|TTG|TGA		0.453	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		14	29	1	0	0.0202918	1	0.0207569	14	29				
ATP6AP1	537	broad.mit.edu	37	X	153663731	153663731	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153663731C>T	ENST00000369762.2	+	9	1144	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	361					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CTTCCCAGGTCACAGGGCCCA	0.612																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1081-1083)gtC>gtT		ATPase, H+ transporting, lysosomal accessory protein 1							61.0	50.0	54.0					X																	153663731		2203	4300	6503	SO:0001819	synonymous_variant	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153663731C>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1083C>T	X.37:g.153663731C>T							p.V361V	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			9	1144	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		361					A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	ENST00000369762.2	37	c.1083C>T	CCDS35451.1																																																																																				0.612	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		27	58	0	0	0	1	0	27	58				
XIRP2	129446	broad.mit.edu	37	2	168103196	168103196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168103196C>A	ENST00000409195.1	+	9	5383	c.5294C>A	c.(5293-5295)tCa>tAa	p.S1765*	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S1543*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S1765*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1590					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACACAGAGTCAAATGAAACA	0.403																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5293-5295)tCa>tAa		xin actin-binding repeat containing 2							108.0	102.0	104.0					2																	168103196		1885	4106	5991	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103196C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5294C>A	2.37:g.168103196C>A	ENSP00000386840:p.Ser1765*					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S1765*|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S1543*	p.S1765*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5383	+			1590					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.5294C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	42	9.805868	0.99268	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.57	4.68	0.58851	.	0.347113	0.31167	N	0.008128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1381	14.5294	0.67915	0.148:0.852:0.0:0.0	.	.	.	.	X	1765;1765;1543	.	ENSP00000295237:S1765X	S	+	2	0	XIRP2	167811442	1.000000	0.71417	0.983000	0.44433	0.112000	0.19704	5.736000	0.68597	1.319000	0.45190	0.637000	0.83480	TCA		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		21	37	1	0	1.2644e-06	1	1.4261e-06	21	37				
PASK	23178	broad.mit.edu	37	2	242079939	242079939	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242079939T>G	ENST00000405260.1	-	3	1124	c.426A>C	c.(424-426)acA>acC	p.T142T	PASK_ENST00000358649.4_Silent_p.T142T|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000234040.4_Silent_p.T142T|PASK_ENST00000403638.3_Silent_p.T142T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	142	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAAATACCTCTGTGGTCTTGG	0.498																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(424-426)acA>acC		PAS domain containing serine/threonine kinase							66.0	58.0	61.0					2																	242079939		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242079939T>G	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.426A>C	2.37:g.242079939T>G						PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Silent_p.T142T|PASK_ENST00000405260.1_Silent_p.T142T|PASK_ENST00000358649.4_Silent_p.T142T	p.T142T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	3	517	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	142			PAS 1.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.426A>C	CCDS2545.1																																																																																				0.498	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		4	10	0	0	0	1	0	4	10				
AKAP9	10142	broad.mit.edu	37	7	91724364	91724364	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:91724364A>G	ENST00000359028.2	+	40	9843	c.9618A>G	c.(9616-9618)gaA>gaG	p.E3206E	AKAP9_ENST00000356239.3_Silent_p.E3202E|AKAP9_ENST00000358100.2_Silent_p.E3152E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3206					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGACAGATGAAGTACATTTGC	0.383			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(9616-9618)gaA>gaG		A kinase (PRKA) anchor protein 9							77.0	78.0	78.0					7																	91724364		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91724364A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9618A>G	7.37:g.91724364A>G						AKAP9_ENST00000358100.2_Silent_p.E3152E|AKAP9_ENST00000356239.3_Silent_p.E3202E	p.E3206E			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		40	9843	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3206					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.9618A>G																																																																																					0.383	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		18	33	0	0	0	1	0	18	33				
TDRD5	163589	broad.mit.edu	37	1	179599930	179599930	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179599930A>C	ENST00000367614.1	+	7	1360	c.1001A>C	c.(1000-1002)aAa>aCa	p.K334T	TDRD5_ENST00000444136.1_Missense_Mutation_p.K334T|TDRD5_ENST00000294848.8_Missense_Mutation_p.K334T	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	334	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTATCACCAAAAAAATTAGGC	0.328																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1000-1002)aAa>aCa		tudor domain containing 5							85.0	84.0	84.0					1																	179599930		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179599930A>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1001A>C	1.37:g.179599930A>C	ENSP00000356586:p.Lys334Thr					TDRD5_ENST00000367614.1_Missense_Mutation_p.K334T|TDRD5_ENST00000294848.8_Missense_Mutation_p.K334T	p.K334T	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			7	1251	+			334			Lotus/OST-HTH 3.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1001A>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833425	0.71258	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.46819	0.86;0.86;0.86	5.25	5.25	0.73442	.	0.657537	0.15226	N	0.273672	T	0.64843	0.2635	M	0.64997	1.995	0.36181	D	0.849428	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.67304	-0.5704	10	0.34782	T	0.22	-27.0764	13.4085	0.60929	1.0:0.0:0.0:0.0	.	334;334	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	T	334	ENSP00000356586:K334T;ENSP00000294848:K334T;ENSP00000406052:K334T	ENSP00000294848:K334T	K	+	2	0	TDRD5	177866553	1.000000	0.71417	0.970000	0.41538	0.973000	0.67179	2.700000	0.47085	2.105000	0.64084	0.528000	0.53228	AAA		0.328	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		16	34	0	0	0	1	0	16	34				
RRP15	51018	broad.mit.edu	37	1	218475894	218475894	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:218475894T>G	ENST00000366932.3	+	2	428	c.398T>G	c.(397-399)aTa>aGa	p.I133R	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	133						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CTAGAGAAAATAAAACAGGTA	0.348																																						ENST00000366932.3																		ACBD6/RRP15(2)	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(397-399)aTa>aGa		ribosomal RNA processing 15 homolog (S. cerevisiae)							66.0	76.0	72.0					1																	218475894		2201	4299	6500	SO:0001583	missense	51018					mitochondrion|nucleolus	protein binding	g.chr1:218475894T>G		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.398T>G	1.37:g.218475894T>G	ENSP00000355899:p.Ile133Arg					RRP15_ENST00000491428.1_3'UTR	p.I133R	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	2	428	+			133						Missense_Mutation	SNP	ENST00000366932.3	37	c.398T>G	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	T	1.304	-0.604057	0.03717	.	.	ENSG00000067533	ENST00000366932	T	0.38077	1.16	5.94	1.91	0.25777	.	0.252893	0.46145	N	0.000307	T	0.08268	0.0206	N	0.00926	-1.1	0.34565	D	0.712797	B	0.06786	0.001	B	0.06405	0.002	T	0.31392	-0.9945	10	0.02654	T	1	.	3.4721	0.07571	0.3173:0.0:0.389:0.2938	.	133	Q9Y3B9	RRP15_HUMAN	R	133	ENSP00000355899:I133R	ENSP00000355899:I133R	I	+	2	0	RRP15	216542517	1.000000	0.71417	0.840000	0.33206	0.515000	0.34225	1.909000	0.39917	0.101000	0.17610	-1.117000	0.02048	ATA		0.348	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		8	110	0	0	0	1	0	8	110				
OR2W5	441932	broad.mit.edu	37	1	247654907	247654907	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247654907T>C	ENST00000522351.1	+	0	538							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTCATCATGTGTCCTCAGAC	0.572																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															118.0	91.0	100.0					1																	247654907		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654907T>C			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654907T>C										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	538	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.572	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		39	65	0	0	0	1	0	39	65				
UTP20	27340	broad.mit.edu	37	12	101693498	101693498	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101693498G>T	ENST00000261637.4	+	13	1643	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	490					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCCAAGGGAAGAAACGAACAG	0.358																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1468-1470)aGa>aTa		UTP20, small subunit (SSU) processome component, homolog (yeast)							58.0	60.0	59.0					12																	101693498		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101693498G>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1469G>T	12.37:g.101693498G>T	ENSP00000261637:p.Arg490Ile						p.R490I	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			13	1643	+			490					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.1469G>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	5.064	0.197510	0.09652	.	.	ENSG00000120800	ENST00000261637	T	0.64618	-0.11	5.75	2.66	0.31614	Armadillo-type fold (1);	0.644899	0.16108	N	0.229247	T	0.43122	0.1233	N	0.19112	0.55	0.09310	N	0.999992	B	0.22346	0.068	B	0.19391	0.025	T	0.26883	-1.0090	10	0.39692	T	0.17	-0.9215	7.2642	0.26219	0.5718:0.0:0.4282:0.0	.	490	O75691	UTP20_HUMAN	I	490	ENSP00000261637:R490I	ENSP00000261637:R490I	R	+	2	0	UTP20	100217629	0.302000	0.24454	0.002000	0.10522	0.052000	0.14988	0.584000	0.23864	0.284000	0.22305	0.650000	0.86243	AGA		0.358	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		12	40	1	0	1.08611e-07	1	1.25818e-07	12	40				
IMPACT	55364	broad.mit.edu	37	18	22028085	22028085	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:22028085T>G	ENST00000284202.4	+	9	838	c.697T>G	c.(697-699)Tta>Gta	p.L233V		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	233					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					ACAGACCTTCTTACAGGATTG	0.353																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(697-699)Tta>Gta		impact RWD domain protein							122.0	115.0	118.0					18																	22028085		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22028085T>G	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.697T>G	18.37:g.22028085T>G	ENSP00000284202:p.Leu233Val						p.L233V	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			9	838	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		233					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.697T>G	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.317602	0.60524	.	.	ENSG00000154059	ENST00000284202	T	0.31247	1.5	4.38	-0.792	0.10925	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.077517	0.52532	D	0.000065	T	0.19406	0.0466	L	0.39692	1.235	0.38682	D	0.952557	P	0.38129	0.619	B	0.40506	0.331	T	0.13495	-1.0507	10	0.16896	T	0.51	.	4.4798	0.11762	0.1469:0.35:0.0:0.5031	.	233	Q9P2X3	IMPCT_HUMAN	V	233	ENSP00000284202:L233V	ENSP00000284202:L233V	L	+	1	2	IMPACT	20282083	0.996000	0.38824	0.986000	0.45419	0.990000	0.78478	0.223000	0.17719	-0.208000	0.10171	0.533000	0.62120	TTA		0.353	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		6	68	0	0	0	1	0	6	68				
UBFD1	56061	broad.mit.edu	37	16	23573949	23573949	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23573949C>T	ENST00000395878.3	+	5	1015	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	UBFD1_ENST00000567212.1_Missense_Mutation_p.R203C|UBFD1_ENST00000219638.4_Missense_Mutation_p.R436C|UBFD1_ENST00000571064.1_3'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	212							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CCTTCAGGAGCGCCTGCCAAC	0.517																																					Melanoma(22;290 1069 22358 48158)	ENST00000395878.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(634-636)Cgc>Tgc		ubiquitin family domain containing 1																																				SO:0001583	missense	56061							g.chr16:23573949C>T	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.634C>T	16.37:g.23573949C>T	ENSP00000379217:p.Arg212Cys					UBFD1_ENST00000567212.1_Missense_Mutation_p.R203C|UBFD1_ENST00000219638.4_Missense_Mutation_p.R436C|UBFD1_ENST00000571064.1_3'UTR	p.R212C	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	5	1015	+			212					A8MW58|D3DWF2	Missense_Mutation	SNP	ENST00000395878.3	37	c.634C>T	CCDS10613.2	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595243	0.66219	.	.	ENSG00000103353	ENST00000219638;ENST00000395878;ENST00000399462	.	.	.	5.78	5.78	0.91487	.	0.055871	0.64402	D	0.000001	T	0.42539	0.1207	L	0.36672	1.1	0.80722	D	1	D	0.61080	0.989	B	0.39299	0.296	T	0.48246	-0.9052	9	0.66056	D	0.02	-7.9567	13.9202	0.63926	0.1518:0.8482:0.0:0.0	.	212	O14562	UBFD1_HUMAN	C	436;212;89	.	ENSP00000219638:R436C	R	+	1	0	UBFD1	23481450	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.565000	0.67365	2.732000	0.93576	0.655000	0.94253	CGC		0.517	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		16	23	0	0	0	1	0	16	23				
SH3BP1	23616	broad.mit.edu	37	22	38039669	38039669	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:38039669G>T	ENST00000357436.4	+	7	805	c.492G>T	c.(490-492)aaG>aaT	p.K164N	SH3BP1_ENST00000442465.2_Missense_Mutation_p.K164N|SH3BP1_ENST00000599616.1_Missense_Mutation_p.K100N|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.K164N|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	164	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGGCAACCAAGAATTCAGGCA	0.587											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(298-300)aaG>aaT		SH3-domain binding protein 1							141.0	105.0	117.0					22																	38039669		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38039669G>T		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.492G>T	22.37:g.38039669G>T	ENSP00000350018:p.Lys164Asn		OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000336738.5_Missense_Mutation_p.K164N|SH3BP1_ENST00000357436.4_Missense_Mutation_p.K164N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.K164N	p.K100N			Q9Y3L3	3BP1_HUMAN			5	300	+	Melanoma(58;0.0574)		164			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.300G>T	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957584	0.73902	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.69806	-0.43;-0.43;-0.43	5.2	4.16	0.48862	BAR (2);	0.269330	0.31246	N	0.007993	T	0.77883	0.4197	M	0.63843	1.955	0.43321	D	0.995347	D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.999	D;D;D;D;D	0.72338	0.975;0.966;0.977;0.966;0.966	T	0.78732	-0.2089	10	0.54805	T	0.06	.	13.8882	0.63721	0.0784:0.0:0.9216:0.0	.	164;78;100;164;78	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	N	164;164;164;78	ENSP00000350018:K164N;ENSP00000337213:K164N;ENSP00000395126:K164N	ENSP00000337213:K164N	K	+	3	2	SH3BP1	36369615	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.187000	0.50950	2.606000	0.88127	0.561000	0.74099	AAG		0.587	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		9	51	1	0	3.86212e-05	1	4.21111e-05	9	51				
FAN1	22909	broad.mit.edu	37	15	31210381	31210381	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31210381C>T	ENST00000362065.4	+	6	2117	c.1826C>T	c.(1825-1827)aCg>aTg	p.T609M		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	609					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCAGCAGCCACGCACATGCTG	0.468								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1825-1827)aCg>aTg	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							109.0	105.0	106.0					15																	31210381		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31210381C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1826C>T	15.37:g.31210381C>T	ENSP00000354497:p.Thr609Met						p.T609M	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			6	2117	+			609					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.1826C>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	2.608	-0.291514	0.05568	.	.	ENSG00000198690	ENST00000362065	T	0.36699	1.24	5.89	-1.92	0.07618	.	0.474561	0.24869	N	0.034949	T	0.13286	0.0322	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.22521	-1.0214	10	0.36615	T	0.2	-0.7397	12.8743	0.57982	0.0:0.4961:0.0:0.5039	.	609;609	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	M	609	ENSP00000354497:T609M	ENSP00000354497:T609M	T	+	2	0	FAN1	28997673	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.029000	0.12329	-0.235000	0.09767	-0.290000	0.09829	ACG		0.468	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		21	91	0	0	0	1	0	21	91				
ARHGEF12	23365	broad.mit.edu	37	11	120278467	120278467	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120278467G>A	ENST00000397843.2	+	3	243	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R26Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	26					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTTTGAACCGAGAGTCACCA	0.328			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(76-78)cGa>cAa		Rho guanine nucleotide exchange factor (GEF) 12							145.0	134.0	137.0					11																	120278467		1903	4147	6050	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120278467G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.77G>A	11.37:g.120278467G>A	ENSP00000380942:p.Arg26Gln					ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R26Q	p.R26Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	3	243	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	26					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.77G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520827	0.96416	.	.	ENSG00000196914	ENST00000397843;ENST00000356641	T;T	0.69306	-0.33;-0.39	5.65	5.65	0.86999	.	0.000000	0.38492	N	0.001677	T	0.71409	0.3336	N	0.24115	0.695	0.44937	D	0.99795	D;D	0.76494	0.998;0.999	P;P	0.62184	0.899;0.844	T	0.73300	-0.4026	10	0.52906	T	0.07	-8.9993	19.7179	0.96131	0.0:0.0:1.0:0.0	.	26;26	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	Q	26	ENSP00000380942:R26Q;ENSP00000349056:R26Q	ENSP00000349056:R26Q	R	+	2	0	ARHGEF12	119783677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.081000	0.64444	2.675000	0.91044	0.650000	0.86243	CGA		0.328	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		29	49	0	0	0	1	0	29	49				
SLITRK1	114798	broad.mit.edu	37	13	84454060	84454060	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:84454060C>T	ENST00000377084.2	-	1	2468	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	528					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAGGGGTTTCCGTGGAGGTC	0.552																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1582-1584)gGa>gAa		SLIT and NTRK-like family, member 1							53.0	53.0	53.0					13																	84454060		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454060C>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1583G>A	13.37:g.84454060C>T	ENSP00000366288:p.Gly528Glu						p.G528E	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2468	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	528					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1583G>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	1.740	-0.491850	0.04322	.	.	ENSG00000178235	ENST00000377084	T	0.56444	0.46	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	N	0.26042	0.785	0.58432	D	0.999999	B	0.06786	0.001	B	0.10450	0.005	T	0.26430	-1.0103	10	0.06891	T	0.86	-8.0611	17.693	0.88273	0.0:1.0:0.0:0.0	.	528	Q96PX8	SLIK1_HUMAN	E	528	ENSP00000366288:G528E	ENSP00000366288:G528E	G	-	2	0	SLITRK1	83352061	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.046000	0.57376	2.603000	0.88011	0.655000	0.94253	GGA		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		25	37	0	0	0	1	0	25	37				
OR14A16	284532	broad.mit.edu	37	1	247978588	247978588	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247978588C>T	ENST00000357627.1	-	1	443	c.444G>A	c.(442-444)ctG>ctA	p.L148L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GACCCCCATACAGCCAAGACA	0.502																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(442-444)ctG>ctA		olfactory receptor, family 14, subfamily A, member 16							122.0	112.0	115.0					1																	247978588		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978588C>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.444G>A	1.37:g.247978588C>T							p.L148L	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	443	-			148					Q6IF96	Silent	SNP	ENST00000357627.1	37	c.444G>A	CCDS31097.1																																																																																				0.502	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		43	95	0	0	0	1	0	43	95				
AKAP6	9472	broad.mit.edu	37	14	33290942	33290942	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:33290942A>G	ENST00000280979.4	+	13	4093	c.3923A>G	c.(3922-3924)aAt>aGt	p.N1308S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1308					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGAAAAACAATCCAAAGGTC	0.408																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(3922-3924)aAt>aGt		A kinase (PRKA) anchor protein 6							54.0	50.0	51.0					14																	33290942		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33290942A>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3923A>G	14.37:g.33290942A>G	ENSP00000280979:p.Asn1308Ser					AKAP6_ENST00000557272.1_Intron	p.N1308S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4093	+	Breast(36;0.0388)|Prostate(35;0.15)		1308					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3923A>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.982323	0.00448	.	.	ENSG00000151320	ENST00000280979	T	0.04234	3.67	5.92	-2.41	0.06562	.	0.639518	0.16344	N	0.218520	T	0.01254	0.0041	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45498	-0.9257	10	0.02654	T	1	-1.7428	9.7755	0.40616	0.3456:0.1234:0.531:0.0	.	1308	Q13023	AKAP6_HUMAN	S	1308	ENSP00000280979:N1308S	ENSP00000280979:N1308S	N	+	2	0	AKAP6	32360693	0.000000	0.05858	0.006000	0.13384	0.943000	0.58893	-0.368000	0.07543	-0.338000	0.08413	0.533000	0.62120	AAT		0.408	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		10	28	0	0	0	1	0	10	28				
CXorf58	254158	broad.mit.edu	37	X	23953371	23953371	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:23953371G>A	ENST00000379211.3	+	7	1163	c.614G>A	c.(613-615)cGc>cAc	p.R205H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	205										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AACAGCTGGCGCAAATTAAAT	0.418																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(613-615)cGc>cAc		chromosome X open reading frame 58							97.0	100.0	99.0					X																	23953371		2203	4300	6503	SO:0001583	missense	254158							g.chrX:23953371G>A	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.614G>A	X.37:g.23953371G>A	ENSP00000368511:p.Arg205His						p.R205H	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			7	1163	+			205						Missense_Mutation	SNP	ENST00000379211.3	37	c.614G>A	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	g	17.15	3.315955	0.60524	.	.	ENSG00000165182	ENST00000379211	T	0.53206	0.63	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000014	T	0.70378	0.3217	M	0.73962	2.25	0.41120	D	0.985801	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73623	-0.3924	10	0.87932	D	0	-18.6997	17.8725	0.88815	0.0:0.0:1.0:0.0	.	205;205	B7ZLS7;Q96LI9	.;CX058_HUMAN	H	205	ENSP00000368511:R205H	ENSP00000368511:R205H	R	+	2	0	CXorf58	23863292	1.000000	0.71417	0.997000	0.53966	0.072000	0.16883	4.173000	0.58249	2.496000	0.84212	0.417000	0.27973	CGC		0.418	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		55	87	0	0	0	1	0	55	87				
SAMD4A	23034	broad.mit.edu	37	14	55169170	55169170	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55169170C>A	ENST00000554335.1	+	3	1250	c.587C>A	c.(586-588)tCt>tAt	p.S196Y	SAMD4A_ENST00000392067.3_Missense_Mutation_p.S196Y|SAMD4A_ENST00000357634.3_Missense_Mutation_p.S195Y|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000251091.5_Missense_Mutation_p.S196Y			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	196					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCTCGGGATTCTGGGATTTGC	0.522																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(586-588)tCt>tAt		sterile alpha motif domain containing 4A							79.0	67.0	71.0					14																	55169170		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55169170C>A	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.587C>A	14.37:g.55169170C>A	ENSP00000452535:p.Ser196Tyr					SAMD4A_ENST00000554335.1_Missense_Mutation_p.S196Y|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Missense_Mutation_p.S195Y|SAMD4A_ENST00000392067.3_Missense_Mutation_p.S196Y	p.S196Y	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			2	892	+			196					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.587C>A	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505792	0.85282	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	.	.	.	6.02	6.02	0.97574	.	0.125811	0.56097	D	0.000032	T	0.74336	0.3703	L	0.47716	1.5	0.40329	D	0.978902	D;D;D	0.76494	0.999;0.993;0.998	D;P;D	0.69479	0.964;0.858;0.921	T	0.68561	-0.5376	9	0.30078	T	0.28	-9.4807	20.5407	0.99260	0.0:1.0:0.0:0.0	.	95;196;196	Q9UPU9-2;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	Y	196;196;196;195;195	.	ENSP00000306381:S196Y	S	+	2	0	SAMD4A	54238920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.103000	0.77014	2.865000	0.98341	0.655000	0.94253	TCT		0.522	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		25	53	1	0	9.57634e-11	1	1.18295e-10	25	53				
TTN	7273	broad.mit.edu	37	2	179605938	179605938	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179605938G>A	ENST00000591111.1	-	46	11295	c.11071C>T	c.(11071-11073)Ctc>Ttc	p.L3691F	TTN_ENST00000589042.1_Missense_Mutation_p.L4008F|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3645F|TTN_ENST00000359218.5_Missense_Mutation_p.L3770F|TTN_ENST00000342175.6_Missense_Mutation_p.L3837F			Q8WZ42	TITIN_HUMAN	titin	13993	Ig-like 22.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATATAGAGGCCACTGTCT	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12022-12024)Ctc>Ttc		titin							68.0	70.0	69.0					2																	179605938		1912	4130	6042	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605938G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11071C>T	2.37:g.179605938G>A	ENSP00000465570:p.Leu3691Phe					TTN_ENST00000342175.6_Missense_Mutation_p.L3837F|TTN_ENST00000359218.5_Missense_Mutation_p.L3770F|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3645F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L3691F	p.L4008F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	12246	-			3691					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12022C>T		.	.	.	.	.	.	.	.	.	.	G	4.676	0.125710	0.08931	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.67345	-0.26;-0.26;-0.26	5.87	1.81	0.25067	.	.	.	.	.	T	0.56031	0.1958	L	0.56199	1.76	0.21256	N	0.999742	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.12156	0.007;0.007;0.007	T	0.53718	-0.8399	9	0.87932	D	0	.	2.2712	0.04091	0.1852:0.1129:0.4696:0.2323	.	3645;3770;3837	D3DPF9;E7EQE6;E7ET18	.;.;.	F	3645;3837;3770;3645	ENSP00000434586:L3645F;ENSP00000340554:L3837F;ENSP00000352154:L3770F	ENSP00000340554:L3837F	L	-	1	0	TTN	179314183	0.204000	0.23447	0.999000	0.59377	0.152000	0.21847	0.031000	0.13710	0.463000	0.27118	-0.150000	0.13652	CTC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	62	0	0	0	1	0	27	62				
ATRX	546	broad.mit.edu	37	X	76907620	76907620	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76907620C>T	ENST00000373344.5	-	15	4755	c.4541G>A	c.(4540-4542)cGa>cAa	p.R1514Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R1476Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1514					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAATTTTTCTCGCTCACGCTC	0.428			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4540-4542)cGa>cAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						275.0	239.0	251.0					X																	76907620		2203	4300	6503	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907620C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4541G>A	X.37:g.76907620C>T	ENSP00000362441:p.Arg1514Gln					ATRX_ENST00000395603.3_Missense_Mutation_p.R1476Q|ATRX_ENST00000480283.1_5'UTR	p.R1514Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4755	-			1514					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4541G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.738977	0.69304	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.20738	2.05;2.05	4.9	4.9	0.64082	.	0.069353	0.53938	N	0.000041	T	0.40473	0.1118	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.984	T	0.09443	-1.0674	10	0.30854	T	0.27	-6.1781	16.8775	0.86056	0.0:1.0:0.0:0.0	.	1476;1514	P46100-4;P46100	.;ATRX_HUMAN	Q	1514;1476	ENSP00000362441:R1514Q;ENSP00000378967:R1476Q	ENSP00000362441:R1514Q	R	-	2	0	ATRX	76794276	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.301000	0.72782	2.002000	0.58637	0.594000	0.82650	CGA		0.428	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		12	150	0	0	0	1	0	12	150				
MYBL1	4603	broad.mit.edu	37	8	67488572	67488572	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67488572A>C	ENST00000522677.3	-	10	1550	c.1140T>G	c.(1138-1140)atT>atG	p.I380M	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.I380M	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	380	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CAGCATCAGAAATATCAAAAC	0.378																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(1138-1140)atT>atG		v-myb avian myeloblastosis viral oncogene homolog-like 1							128.0	122.0	124.0					8																	67488572		1874	4125	5999	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67488572A>C	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1140T>G	8.37:g.67488572A>C	ENSP00000429633:p.Ile380Met					MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.I380M	p.I380M	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		10	1550	-			380			Negative regulatory domain (By similarity).		E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.1140T>G	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926499	0.34002	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.17854	2.74;2.25	5.5	4.28	0.50868	.	0.266976	0.37623	N	0.002004	T	0.06416	0.0165	N	0.03608	-0.345	0.23913	N	0.99648	B;B;B	0.23735	0.006;0.09;0.006	B;B;B	0.24006	0.005;0.05;0.003	T	0.15009	-1.0452	10	0.44086	T	0.13	-9.2907	3.066	0.06214	0.6352:0.1475:0.0757:0.1416	.	380;379;380	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	M	380	ENSP00000429633:I380M;ENSP00000428011:I380M	ENSP00000429633:I380M	I	-	3	3	MYBL1	67651126	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.565000	0.23578	2.102000	0.63906	0.482000	0.46254	ATT		0.378	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		59	92	0	0	0	1	0	59	92				
MYL6	4637	broad.mit.edu	37	12	56554045	56554045	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56554045A>G	ENST00000550697.1	+	5	609	c.368A>G	c.(367-369)gAa>gGa	p.E123G	MYL6_ENST00000536128.1_Missense_Mutation_p.E216G|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000547649.1_Missense_Mutation_p.E123G|MYL6_ENST00000293422.5_Missense_Mutation_p.E124G|MYL6_ENST00000548580.1_Missense_Mutation_p.E75G|MYL6_ENST00000551589.1_Missense_Mutation_p.E123G|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000548293.1_Missense_Mutation_p.E123G|MYL6_ENST00000547408.1_Missense_Mutation_p.E123G|MYL6_ENST00000549566.1_Missense_Mutation_p.E168G|MYL6_ENST00000549017.1_Missense_Mutation_p.E19G|MYL6_ENST00000548400.1_Missense_Mutation_p.E87G|MYL6_ENST00000348108.4_Missense_Mutation_p.E124G	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	123	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			ATGACAGAGGAAGAAGTAGAG	0.488																																						ENST00000551589.1																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(367-369)gAa>gGa		myosin, light chain 6, alkali, smooth muscle and non-muscle							80.0	71.0	74.0					12																	56554045		2203	4300	6503	SO:0001583	missense	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56554045A>G	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.368A>G	12.37:g.56554045A>G	ENSP00000446955:p.Glu123Gly					MYL6_ENST00000547408.1_Missense_Mutation_p.E123G|MYL6_ENST00000550697.1_Missense_Mutation_p.E123G|MYL6_ENST00000547649.1_Missense_Mutation_p.E123G|MYL6_ENST00000536128.1_Missense_Mutation_p.E216G|MYL6_ENST00000549566.1_Missense_Mutation_p.E168G|MYL6_ENST00000293422.5_Missense_Mutation_p.E124G|MYL6_ENST00000548580.1_Missense_Mutation_p.E75G|MYL6_ENST00000548293.1_Missense_Mutation_p.E123G|MYL6_ENST00000548400.1_Missense_Mutation_p.E87G|MYL6_ENST00000549017.1_Missense_Mutation_p.E19G|MYL6_ENST00000348108.4_Missense_Mutation_p.E124G	p.E123G			P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		5	401	+			123			EF-hand 3.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.368A>G	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815253	0.70912	.	.	ENSG00000092841	ENST00000550697;ENST00000548580;ENST00000293422;ENST00000348108;ENST00000549017;ENST00000549566;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000549392;ENST00000548400;ENST00000548293	D;T;D;D;T;D;D;D;D;D;D;D;D	0.81821	-1.54;-0.63;-1.54;-1.54;0.7;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	4.01	4.01	0.46588	EF-hand-like domain (1);	0.201561	0.44483	D	0.000444	D	0.91362	0.7275	H	0.94264	3.515	0.80722	D	1	D;B;D;D	0.89917	1.0;0.264;0.989;0.994	D;B;P;D	0.70016	0.967;0.262;0.828;0.931	D	0.93004	0.6426	10	0.62326	D	0.03	.	12.3705	0.55252	1.0:0.0:0.0:0.0	.	216;123;123;123	B7Z6Z4;P60660-2;P60660;F8W1R7	.;.;MYL6_HUMAN;.	G	123;75;124;124;19;168;216;123;123;123;111;87;123	ENSP00000446955:E123G;ENSP00000446640:E75G;ENSP00000293422:E124G;ENSP00000301540:E124G;ENSP00000449086:E19G;ENSP00000446709:E168G;ENSP00000441750:E216G;ENSP00000446714:E123G;ENSP00000446721:E123G;ENSP00000446687:E123G;ENSP00000450116:E111G;ENSP00000448859:E87G;ENSP00000448101:E123G	ENSP00000293422:E124G	E	+	2	0	MYL6	54840312	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.137000	0.71710	1.840000	0.53500	0.379000	0.24179	GAA		0.488	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			20	40	0	0	0	1	0	20	40				
FLG2	388698	broad.mit.edu	37	1	152329831	152329831	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152329831G>T	ENST00000388718.5	-	3	503	c.431C>A	c.(430-432)tCt>tAt	p.S144Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	144	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCCAGAACTATATCC	0.463																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(430-432)tCt>tAt		filaggrin family member 2							238.0	234.0	235.0					1																	152329831		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329831G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.431C>A	1.37:g.152329831G>T	ENSP00000373370:p.Ser144Tyr					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S144Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	503	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		144			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.431C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179360	0.38511	.	.	ENSG00000143520	ENST00000388718	T	0.00760	5.73	5.62	4.71	0.59529	.	.	.	.	.	T	0.01287	0.0042	M	0.61703	1.905	0.27393	N	0.955087	D	0.69078	0.997	D	0.66847	0.947	T	0.49011	-0.8983	9	0.59425	D	0.04	-8.4261	10.2724	0.43491	0.0906:0.0:0.9094:0.0	.	144	Q5D862	FILA2_HUMAN	Y	144	ENSP00000373370:S144Y	ENSP00000373370:S144Y	S	-	2	0	FLG2	150596455	0.457000	0.25752	0.976000	0.42696	0.768000	0.43524	2.120000	0.41968	1.388000	0.46506	0.557000	0.71058	TCT		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		53	108	1	0	6.56871e-35	1	9.43686e-35	53	108				
MGA	23269	broad.mit.edu	37	15	42040968	42040968	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42040968T>G	ENST00000570161.1	+	15	5346	c.5346T>G	c.(5344-5346)ctT>ctG	p.L1782L	MGA_ENST00000219905.7_Silent_p.L1782L|MGA_ENST00000566586.1_Silent_p.L1573L|MGA_ENST00000389936.4_Intron|MGA_ENST00000545763.1_Silent_p.L1573L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACACACAACTTCAGGGACATC	0.488																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5344-5346)ctT>ctG		MGA, MAX dimerization protein							117.0	110.0	112.0					15																	42040968		1982	4175	6157	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42040968T>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5346T>G	15.37:g.42040968T>G						MGA_ENST00000545763.1_Silent_p.L1573L|MGA_ENST00000566586.1_Silent_p.L1573L|MGA_ENST00000389936.4_Intron|MGA_ENST00000570161.1_Silent_p.L1782L	p.L1782L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	16	5527	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1763					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.5346T>G	CCDS55959.1																																																																																				0.488	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		12	46	0	0	0	1	0	12	46				
BCORL1	63035	broad.mit.edu	37	X	129150157	129150157	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129150157A>G	ENST00000218147.7	+	4	3606	c.3409A>G	c.(3409-3411)Aag>Gag	p.K1137E	BCORL1_ENST00000540052.1_Missense_Mutation_p.K1137E|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1137E|BCORL1_ENST00000303743.5_Missense_Mutation_p.K1137E			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1137					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCACAAGCCAAGGCCGTGGT	0.587																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3409-3411)Aag>Gag		BCL6 corepressor-like 1							22.0	19.0	20.0					X																	129150157		2202	4296	6498	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129150157A>G	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3409A>G	X.37:g.129150157A>G	ENSP00000218147:p.Lys1137Glu					BCORL1_ENST00000303743.5_Missense_Mutation_p.K1137E|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1137E|BCORL1_ENST00000218147.7_Missense_Mutation_p.K1137E	p.K1137E	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	3453	+			1137					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3409A>G	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.52|14.52	2.558689|2.558689	0.45590|0.45590	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.47528|.	0.84;1.22;0.91;0.84;1.3|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.38492|.	N|.	0.001662|.	T|T	0.37265|0.37265	0.0997|0.0997	L|L	0.29908|0.29908	0.895|0.895	0.18873|0.18873	N|N	0.999986|0.999986	D;D|.	0.63880|.	0.978;0.993|.	P;P|.	0.54629|.	0.731;0.757|.	T|T	0.24261|0.24261	-1.0165|-1.0165	10|5	0.33940|.	T|.	0.23|.	-16.1705|-16.1705	12.2974|12.2974	0.54857|0.54857	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1137;1137|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	E|R	1137;1137;1137;1137;737|572	ENSP00000218147:K1137E;ENSP00000307541:K1137E;ENSP00000352253:K1137E;ENSP00000437775:K1137E;ENSP00000399483:K737E|.	ENSP00000218147:K1137E|.	K|Q	+|+	1|2	0|0	BCORL1|BCORL1	128977838|128977838	0.997000|0.997000	0.39634|0.39634	0.193000|0.193000	0.23327|0.23327	0.223000|0.223000	0.24884|0.24884	3.085000|3.085000	0.50151|0.50151	1.816000|1.816000	0.52996|0.52996	0.486000|0.486000	0.48141|0.48141	AAG|CAA		0.587	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		8	34	0	0	0	1	0	8	34				
ZIM2	23619	broad.mit.edu	37	19	57290833	57290833	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57290833C>A	ENST00000391708.3	-	11	1196	c.654G>T	c.(652-654)caG>caT	p.Q218H	ZIM2_ENST00000221722.5_Missense_Mutation_p.Q218H|ZIM2_ENST00000593711.1_Missense_Mutation_p.Q218H|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q218H|ZIM2_ENST00000599935.1_Missense_Mutation_p.Q218H	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	218	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GTTTAGAGAACTGGTGCCCTG	0.458																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(652-654)caG>caT		zinc finger, imprinted 2							167.0	136.0	147.0					19																	57290833		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57290833C>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.654G>T	19.37:g.57290833C>A	ENSP00000375589:p.Gln218His					ZIM2_ENST00000599935.1_Missense_Mutation_p.Q218H|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q218H|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q218H|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.Q218H	p.Q218H	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	11	1196	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.654G>T	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.020070	0.00418	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.00808	5.67;5.67	3.95	-4.97	0.03029	Krueppel-associated box (3);	.	.	.	.	T	0.01029	0.0034	N	0.25060	0.705	.	.	.	D	0.65815	0.995	P	0.51582	0.674	T	0.34750	-0.9816	8	0.22706	T	0.39	.	7.5587	0.27839	0.0:0.274:0.1268:0.5992	.	218	Q9NZV7	ZIM2_HUMAN	H	218	ENSP00000375589:Q218H;ENSP00000221722:Q218H	ENSP00000221722:Q218H	Q	-	3	2	ZIM2	61982645	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.520000	0.02241	-1.305000	0.02327	-4.046000	0.00012	CAG		0.458	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			4	73	1	0	0.00024832	1	0.000265255	4	73				
TSSC2	650368	broad.mit.edu	37	11	3423022	3423022	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:3423022C>A	ENST00000529482.1	+	0	611									tumor suppressing subtransferable candidate 2 pseudogene																		CAGCATCTTTCTTTCAAGAGA	0.557																																						ENST00000529482.1																			0																																																			0							g.chr11:3423022C>A			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3423022C>A														0	611	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.557	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			13	27	1	0	2.27111e-07	1	2.60515e-07	13	27				
BAGE2	85319	broad.mit.edu	37	21	11039094	11039094	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:11039094C>A	ENST00000470054.1	-	0	1109							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTCCTTTTCTCCTTGTAGC	0.408																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039094C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039094C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1109	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.408	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		18	253	1	0	2.48551e-13	1	3.17925e-13	18	253				
PLEKHG7	440107	broad.mit.edu	37	12	93163929	93163929	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93163929A>C	ENST00000344636.3	+	12	1282	c.1098A>C	c.(1096-1098)aaA>aaC	p.K366N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	366							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAACCAAGAAAATATCTTTAT	0.318																																						ENST00000344636.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						c.(1096-1098)aaA>aaC		pleckstrin homology domain containing, family G (with RhoGef domain) member 7							97.0	99.0	99.0					12																	93163929		2203	4299	6502	SO:0001583	missense	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93163929A>C	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.1098A>C	12.37:g.93163929A>C	ENSP00000344961:p.Lys366Asn						p.K366N	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN			12	1282	+			366					B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	c.1098A>C	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470458	0.26423	.	.	ENSG00000187510	ENST00000344636	T	0.34275	1.37	6.07	0.792	0.18625	.	0.374853	0.27210	N	0.020408	T	0.17789	0.0427	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11108	-1.0601	10	0.31617	T	0.26	-0.0609	2.1712	0.03850	0.5104:0.2432:0.1295:0.1169	.	366	Q6ZR37	PKHG7_HUMAN	N	366	ENSP00000344961:K366N	ENSP00000344961:K366N	K	+	3	2	PLEKHG7	91688060	0.483000	0.25956	0.050000	0.19076	0.483000	0.33249	0.987000	0.29603	-0.094000	0.12374	-0.313000	0.08912	AAA		0.318	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		24	45	0	0	0	1	0	24	45				
UMODL1	89766	broad.mit.edu	37	21	43531635	43531635	+	Missense_Mutation	SNP	T	T	C	rs375360386		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43531635T>C	ENST00000408910.2	+	12	1919	c.1919T>C	c.(1918-1920)aTg>aCg	p.M640T	UMODL1_ENST00000400424.2_Missense_Mutation_p.M568T|UMODL1_ENST00000400427.1_Missense_Mutation_p.M696T|UMODL1_ENST00000408989.2_Missense_Mutation_p.M768T|C21orf128_ENST00000329015.2_5'Flank	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	640					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						AACTCCATCATGGAGCCACCC	0.637																																					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.(2086-2088)aTg>aCg		uromodulin-like 1		T	THR/MET,THR/MET,THR/MET,THR/MET	0,3966		0,0,1983	50.0	56.0	54.0		1919,2087,1703,2303	-9.2	0.0	21		54	1,8287		0,1,4143	no	missense,missense,missense,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	81,81,81,81	0,1,6126	CC,CT,TT		0.0121,0.0,0.0082	benign,benign,benign,benign	640/1319,696/1375,568/1247,768/1447	43531635	1,12253	1983	4144	6127	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43531635T>C		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.1919T>C	21.37:g.43531635T>C	ENSP00000386147:p.Met640Thr					UMODL1_ENST00000408989.2_Missense_Mutation_p.M768T|UMODL1_ENST00000400424.1_Missense_Mutation_p.M568T|UMODL1_ENST00000408910.2_Missense_Mutation_p.M640T	p.M696T	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			11	2483	+			693					C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2087T>C	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	T	1.580	-0.531916	0.04112	0.0	1.21E-4	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.71698	-0.55;-0.59;-0.55;-0.59	4.6	-9.2	0.00682	.	1.896680	0.02567	N	0.097398	T	0.39118	0.1066	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	0.31613	-0.9937	10	0.13853	T	0.58	-0.8026	1.8583	0.03184	0.201:0.1299:0.1911:0.4781	.	768;640	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	696;568;768;640	ENSP00000383279:M696T;ENSP00000383276:M568T;ENSP00000386126:M768T;ENSP00000386147:M640T	ENSP00000383276:M568T	M	+	2	0	UMODL1	42404704	0.060000	0.20803	0.000000	0.03702	0.006000	0.05464	-0.041000	0.12084	-1.755000	0.01320	-0.231000	0.12243	ATG		0.637	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	77	0	0	0	1	0	5	77				
CASR	846	broad.mit.edu	37	3	122002980	122002980	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122002980C>T	ENST00000490131.1	+	7	2551	c.2179C>T	c.(2179-2181)Ctg>Ttg	p.L727L	CASR_ENST00000296154.5_Silent_p.L727L|CASR_ENST00000498619.1_Silent_p.L737L|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	727			L -> Q (in HYPOC1; the mutant receptor demonstrates a significant leftward shift in the extracellular calcium/ intracellular signaling dose-response curve versus that for the wild-type receptor). {ECO:0000269|PubMed:16608894}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGTTCCTGCTGGTTTTCCT	0.567																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2209-2211)Ctg>Ttg		calcium-sensing receptor	Cinacalcet(DB01012)						55.0	50.0	52.0					3																	122002980		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002980C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2179C>T	3.37:g.122002980C>T						CASR_ENST00000490131.1_Silent_p.L727L|CASR_ENST00000296154.5_Silent_p.L727L	p.L737L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2647	+			727					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.2209C>T	CCDS3010.1																																																																																				0.567	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		18	41	0	0	0	1	0	18	41				
HMBOX1	79618	broad.mit.edu	37	8	28866664	28866664	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:28866664T>G	ENST00000397358.3	+	6	1366	c.662T>G	c.(661-663)tTt>tGt	p.F221C	HMBOX1_ENST00000524238.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000523613.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000287701.10_Missense_Mutation_p.F221C|HMBOX1_ENST00000403668.2_Missense_Mutation_p.F221C|HMBOX1_ENST00000519047.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000558662.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000444075.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000355231.5_Missense_Mutation_p.F221C	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	221					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AAAAGAGCATTTTACCGATGG	0.373																																						ENST00000397358.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11						c.(661-663)tTt>tGt		homeobox containing 1							113.0	106.0	109.0					8																	28866664		2203	4300	6503	SO:0001583	missense	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28866664T>G	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.662T>G	8.37:g.28866664T>G	ENSP00000380516:p.Phe221Cys					HMBOX1_ENST00000558662.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000524238.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000519047.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000523613.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000403668.2_Missense_Mutation_p.F221C|HMBOX1_ENST00000355231.5_Missense_Mutation_p.F221C|HMBOX1_ENST00000287701.10_Missense_Mutation_p.F221C|HMBOX1_ENST00000444075.1_Missense_Mutation_p.F221C	p.F221C	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	6	1366	+		Ovarian(32;0.0192)	221					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	c.662T>G	CCDS6071.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805533	0.90623	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.81	5.81	0.92471	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.61703	1.905	0.58432	D	0.999999	P;D;D;P;P;P	0.56968	0.933;0.978;0.973;0.793;0.808;0.946	P;P;P;P;B;P	0.53722	0.614;0.733;0.614;0.487;0.424;0.733	D	0.99264	1.0891	10	0.72032	D	0.01	-6.2815	16.1574	0.81676	0.0:0.0:0.0:1.0	.	221;221;221;221;221;221	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	C	221	ENSP00000287701:F221C;ENSP00000401769:F221C;ENSP00000384261:F221C;ENSP00000430059:F221C;ENSP00000380516:F221C;ENSP00000430110:F221C	ENSP00000287701:F221C	F	+	2	0	HMBOX1	28922583	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.662000	0.83803	2.221000	0.72209	0.533000	0.62120	TTT		0.373	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		20	32	0	0	0	1	0	20	32				
PLXNC1	10154	broad.mit.edu	37	12	94575310	94575310	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94575310C>A	ENST00000258526.4	+	3	1541	c.1292C>A	c.(1291-1293)cCt>cAt	p.P431H	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	431	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAACTCGTTCCTGATCCTGTG	0.308																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1291-1293)cCt>cAt		plexin C1							97.0	107.0	104.0					12																	94575310		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94575310C>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1292C>A	12.37:g.94575310C>A	ENSP00000258526:p.Pro431His					RP11-74K11.2_ENST00000550759.1_RNA	p.P431H	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			3	1541	+			431			Sema.		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1292C>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628278	0.46944	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	T;T	0.04454	3.62;3.62	6.08	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.322169	0.36555	N	0.002524	T	0.10423	0.0255	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	P	0.54140	0.743	T	0.00127	-1.2019	10	0.66056	D	0.02	.	8.4099	0.32638	0.0:0.8495:0.0:0.1505	.	431	O60486	PLXC1_HUMAN	H	431;47	ENSP00000258526:P431H;ENSP00000447843:P47H	ENSP00000258526:P431H	P	+	2	0	PLXNC1	93099441	1.000000	0.71417	0.947000	0.38551	0.329000	0.28539	2.683000	0.46943	2.894000	0.99253	0.591000	0.81541	CCT		0.308	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			27	56	1	0	1.50538e-07	1	1.73672e-07	27	56				
ACTR10	55860	broad.mit.edu	37	14	58697164	58697164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58697164C>A	ENST00000254286.4	+	11	916	c.836C>A	c.(835-837)tCa>tAa	p.S279*		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	279					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						GAAGAGCAATCAGTTGCCACT	0.289																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(835-837)tCa>tAa		actin-related protein 10 homolog (S. cerevisiae)							81.0	87.0	85.0					14																	58697164		2203	4291	6494	SO:0001587	stop_gained	55860					cytoplasm		g.chr14:58697164C>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.836C>A	14.37:g.58697164C>A	ENSP00000254286:p.Ser279*						p.S279*	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			11	916	+			279					Q9H9Y5|Q9NWY2	Nonsense_Mutation	SNP	ENST00000254286.4	37	c.836C>A	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092343	0.94149	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	.	.	.	5.74	4.84	0.62591	.	0.239518	0.42548	D	0.000699	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-11.0136	15.8759	0.79162	0.0:0.8642:0.1358:0.0	.	.	.	.	X	279	.	ENSP00000254286:S279X	S	+	2	0	ACTR10	57766917	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.559000	0.60796	1.421000	0.47157	0.549000	0.68633	TCA		0.289	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			4	59	1	0	0.150653	1	0.151842	4	59				
SLU7	10569	broad.mit.edu	37	5	159835009	159835009	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:159835009G>A	ENST00000297151.4	-	9	1273	c.886C>T	c.(886-888)Cct>Tct	p.P296S		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	296					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGCATAAGGATTCTCTCTC	0.308																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(886-888)Cct>Tct		SLU7 splicing factor homolog (S. cerevisiae)							148.0	159.0	155.0					5																	159835009		2203	4299	6502	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159835009G>A	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.886C>T	5.37:g.159835009G>A	ENSP00000297151:p.Pro296Ser						p.P296S	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1273	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	296					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.886C>T	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227262	0.95173	.	.	ENSG00000164609	ENST00000297151	T	0.51574	0.7	6.16	6.16	0.99307	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71817	-0.4478	10	0.87932	D	0	-12.1327	20.8598	0.99761	0.0:0.0:1.0:0.0	.	296	O95391	SLU7_HUMAN	S	296	ENSP00000297151:P296S	ENSP00000297151:P296S	P	-	1	0	SLU7	159767587	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.937000	0.99478	0.650000	0.86243	CCT		0.308	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		29	52	0	0	0	1	0	29	52				
CENPE	1062	broad.mit.edu	37	4	104061119	104061119	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:104061119A>C	ENST00000265148.3	-	38	6120	c.6031T>G	c.(6031-6033)Tta>Gta	p.L2011V	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2011				AQNLSMQSVR -> PNYLCKCE (in Ref. 1; CAA78727). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCATAGATAAGTTTTGGGCC	0.328																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(6031-6033)Tta>Gta		centromere protein E, 312kDa							129.0	117.0	121.0					4																	104061119		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104061119A>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6031T>G	4.37:g.104061119A>C	ENSP00000265148:p.Leu2011Val					CENPE_ENST00000380026.3_Intron	p.L2011V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	38	6120	-			2011	AQNLSMQSVR -> PNYLCKCE (in Ref. 1; CAA78727).				A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.6031T>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	1.007	-0.688991	0.03328	.	.	ENSG00000138778	ENST00000265148;ENST00000394771	T	0.70164	-0.46	5.29	1.47	0.22746	.	.	.	.	.	T	0.50973	0.1647	L	0.48642	1.525	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.32079	-0.9920	9	0.20519	T	0.43	.	2.4178	0.04440	0.6016:0.1607:0.0837:0.1539	.	2011	Q02224	CENPE_HUMAN	V	2011	ENSP00000265148:L2011V	ENSP00000265148:L2011V	L	-	1	2	CENPE	104280568	0.000000	0.05858	0.051000	0.19133	0.188000	0.23474	-0.101000	0.10973	0.300000	0.22699	-0.350000	0.07774	TTA		0.328	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	31	0	0	0	1	0	14	31				
ARHGAP6	395	broad.mit.edu	37	X	11682852	11682852	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11682852G>A	ENST00000337414.4	-	1	969	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R33C|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R33C	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	33					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGGTCTGGCGCAGCTTCCTC	0.721																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(97-99)Cgc>Tgc		Rho GTPase activating protein 6							5.0	6.0	6.0					X																	11682852		1767	3565	5332	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11682852G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.97C>T	X.37:g.11682852G>A	ENSP00000338967:p.Arg33Cys					ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R33C|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R33C	p.R33C	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			1	969	-			33					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.97C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933064	0.92458	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.53857	1.06;0.84;0.6	4.82	4.82	0.62117	.	.	.	.	.	T	0.59238	0.2179	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.981	T	0.65022	-0.6269	9	0.87932	D	0	.	14.4354	0.67277	0.0:0.0:1.0:0.0	.	33;33	O43182-2;O43182	.;RHG06_HUMAN	C	33	ENSP00000338967:R33C;ENSP00000370094:R33C;ENSP00000370108:R33C	ENSP00000338967:R33C	R	-	1	0	ARHGAP6	11592773	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.179000	0.71974	1.987000	0.57996	0.594000	0.82650	CGC		0.721	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		5	10	0	0	0	1	0	5	10				
KRT9	3857	broad.mit.edu	37	17	39725739	39725739	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39725739T>C	ENST00000246662.4	-	4	1048	c.983A>G	c.(982-984)cAg>cGg	p.Q328R	KRT9_ENST00000588431.1_Missense_Mutation_p.Q95R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	328	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTCATACTCCTGACGCATGTC	0.502																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(982-984)cAg>cGg		keratin 9							216.0	174.0	188.0					17																	39725739		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39725739T>C		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.983A>G	17.37:g.39725739T>C	ENSP00000246662:p.Gln328Arg					KRT9_ENST00000588431.1_Missense_Mutation_p.Q95R	p.Q328R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			4	1048	-		Breast(137;0.000307)	328			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.983A>G	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	T	8.679	0.904618	0.17760	.	.	ENSG00000171403	ENST00000246662	T	0.80738	-1.41	4.25	4.25	0.50352	Filament (1);	.	.	.	.	T	0.70448	0.3225	L	0.43152	1.355	0.09310	N	1	P	0.34864	0.473	B	0.34991	0.193	T	0.58020	-0.7710	9	0.23302	T	0.38	.	6.0647	0.19856	0.0:0.0881:0.1631:0.7487	.	328	P35527	K1C9_HUMAN	R	328	ENSP00000246662:Q328R	ENSP00000246662:Q328R	Q	-	2	0	KRT9	36979265	0.000000	0.05858	0.008000	0.14137	0.197000	0.23852	0.040000	0.13905	1.538000	0.49270	0.459000	0.35465	CAG		0.502	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		5	47	0	0	0	1	0	5	47				
CCDC102B	79839	broad.mit.edu	37	18	66721328	66721328	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66721328G>T	ENST00000360242.5	+	8	1613	c.1496G>T	c.(1495-1497)aGa>aTa	p.R499I	CCDC102B_ENST00000319445.6_Missense_Mutation_p.R499I	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	499								p.R499K(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAGAAAGAAAGAAATGAAAAC	0.368																																						ENST00000360242.5																			1	Substitution - Missense(1)	p.R499K(1)	large_intestine(1)	breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(1495-1497)aGa>aTa		coiled-coil domain containing 102B							78.0	77.0	77.0					18																	66721328		2203	4299	6502	SO:0001583	missense	79839							g.chr18:66721328G>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1496G>T	18.37:g.66721328G>T	ENSP00000353377:p.Arg499Ile					CCDC102B_ENST00000319445.6_Missense_Mutation_p.R499I	p.R499I	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN			8	1613	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	499					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1496G>T	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	7.755	0.704236	0.15172	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.12039	2.72;2.72	5.05	-4.57	0.03421	.	1.856880	0.03418	N	0.205832	T	0.08358	0.0208	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28902	-1.0029	10	0.33141	T	0.24	3.982	1.5756	0.02624	0.1284:0.1771:0.2728:0.4218	.	499	Q68D86	C102B_HUMAN	I	499	ENSP00000316237:R499I;ENSP00000353377:R499I	ENSP00000316237:R499I	R	+	2	0	CCDC102B	64872308	0.000000	0.05858	0.022000	0.16811	0.161000	0.22273	-1.180000	0.03088	-0.765000	0.04645	-0.531000	0.04308	AGA		0.368	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		21	42	1	0	3.5997e-14	1	4.67138e-14	21	42				
PPP6R3	55291	broad.mit.edu	37	11	68369357	68369357	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68369357C>A	ENST00000393800.2	+	21	2473	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	PPP6R3_ENST00000524845.1_Missense_Mutation_p.S711Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S734Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S660Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S705Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S660Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S740Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S508Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S694Y|PPP6R3_ENST00000393799.2_Missense_Mutation_p.S740Y	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	740					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGAGTAATTCTCCAGTGGAA	0.493																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2218-2220)tCt>tAt		protein phosphatase 6, regulatory subunit 3							103.0	113.0	110.0					11																	68369357		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68369357C>A	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2219C>A	11.37:g.68369357C>A	ENSP00000377389:p.Ser740Tyr					PPP6R3_ENST00000393801.3_Missense_Mutation_p.S740Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S694Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S711Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.S740Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S660Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S508Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S660Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S705Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S734Y	p.S740Y			Q5H9R7	PP6R3_HUMAN			21	2486	+			740					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.2219C>A	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882164	0.72294	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	4.91	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.64404	1.975	0.58432	D	0.999995	D;P;D;D;D;D;D;D	0.89917	0.999;0.948;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D	0.91635	0.994;0.548;0.996;0.996;0.998;0.996;0.999;0.993	T	0.76940	-0.2773	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.8592:0.1408:0.0	.	423;508;660;711;734;740;740;660	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	Y	740;740;508;711;694;734;740;660;660;705;447	ENSP00000377388:S740Y;ENSP00000377389:S740Y;ENSP00000434429:S508Y;ENSP00000431415:S711Y;ENSP00000265637:S694Y;ENSP00000433058:S734Y;ENSP00000377390:S740Y;ENSP00000265636:S660Y;ENSP00000437329:S660Y;ENSP00000433565:S705Y;ENSP00000436209:S447Y	ENSP00000265636:S660Y	S	+	2	0	PPP6R3	68125933	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	6.823000	0.75282	1.276000	0.44395	0.591000	0.81541	TCT		0.493	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		54	90	1	0	1.27862e-28	1	1.81741e-28	54	90				
LAS1L	81887	broad.mit.edu	37	X	64743516	64743516	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64743516C>T	ENST00000374811.3	-	11	1412	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	LAS1L_ENST00000374804.5_Missense_Mutation_p.A399T|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.A441T	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	458					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCAAGGGAGGCGGAGCAGTTG	0.577																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1372-1374)Gcc>Acc		LAS1-like (S. cerevisiae)							41.0	29.0	33.0					X																	64743516		2200	4299	6499	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64743516C>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1372G>A	X.37:g.64743516C>T	ENSP00000363944:p.Ala458Thr					LAS1L_ENST00000374807.5_Missense_Mutation_p.A441T|LAS1L_ENST00000374804.5_Missense_Mutation_p.A399T|LAS1L_ENST00000312391.8_3'UTR	p.A458T	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN			11	1412	-			458					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.1372G>A	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	5.962	0.361469	0.11296	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.89	0.527	0.17084	.	0.887967	0.09881	N	0.743608	T	0.25975	0.0633	L	0.41236	1.265	0.09310	N	1	B;B;B	0.27559	0.038;0.177;0.181	B;B;B	0.18561	0.006;0.022;0.016	T	0.20009	-1.0288	9	0.19590	T	0.45	.	3.0271	0.06095	0.4057:0.3642:0.0:0.2301	.	399;441;458	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	T	441;458;399	.	ENSP00000363937:A399T	A	-	1	0	LAS1L	64660241	0.002000	0.14202	0.162000	0.22713	0.558000	0.35554	-0.189000	0.09629	0.322000	0.23283	0.287000	0.19450	GCC		0.577	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		6	11	0	0	0	1	0	6	11				
PDE1C	5137	broad.mit.edu	37	7	31848655	31848655	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31848655C>A	ENST00000396191.1	-	16	2336	c.1881G>T	c.(1879-1881)aaG>aaT	p.K627N	PDE1C_ENST00000396193.1_Missense_Mutation_p.K687N|PDE1C_ENST00000396182.2_Missense_Mutation_p.K627N|PDE1C_ENST00000396184.3_Missense_Mutation_p.K627N|PDE1C_ENST00000321453.7_Missense_Mutation_p.K627N|PDE1C_ENST00000479980.1_5'UTR	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	627					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CATCTGTTTTCTTTGAATCAT	0.303																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1879-1881)aaG>aaT		phosphodiesterase 1C, calmodulin-dependent 70kDa							148.0	131.0	136.0					7																	31848655		2202	4298	6500	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31848655C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1881G>T	7.37:g.31848655C>A	ENSP00000379494:p.Lys627Asn					PDE1C_ENST00000321453.7_Missense_Mutation_p.K627N|PDE1C_ENST00000396191.1_Missense_Mutation_p.K627N|PDE1C_ENST00000396193.1_Missense_Mutation_p.K687N|PDE1C_ENST00000396182.2_Missense_Mutation_p.K627N|PDE1C_ENST00000479980.1_5'UTR	p.K627N	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		17	2085	-			627					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1881G>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907402	0.52333	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-0.93;-0.93	5.35	5.35	0.76521	.	0.168226	0.40818	N	0.001012	T	0.81969	0.4935	L	0.32530	0.975	0.39518	D	0.968469	D;D;P	0.61080	0.989;0.981;0.608	D;D;B	0.72625	0.978;0.95;0.109	D	0.84025	0.0356	10	0.87932	D	0	.	14.4381	0.67296	0.0:1.0:0.0:0.0	.	627;687;627	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	N	687;627;627;627;627	ENSP00000379496:K687N;ENSP00000379494:K627N;ENSP00000318105:K627N;ENSP00000379487:K627N;ENSP00000379485:K627N	ENSP00000318105:K627N	K	-	3	2	PDE1C	31815180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.018000	0.57174	2.770000	0.95276	0.650000	0.86243	AAG		0.303	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			3	14	1	0	0.115264	1	0.116507	3	14				
POLE2	5427	broad.mit.edu	37	14	50118061	50118061	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:50118061G>T	ENST00000216367.5	-	16	1345	c.1246C>A	c.(1246-1248)Cgt>Agt	p.R416S	POLE2_ENST00000539565.2_Missense_Mutation_p.R390S|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.R416S	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	416					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	AAGTCTTCACGGAAGACAGTA	0.308																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(1168-1170)Cgt>Agt		polymerase (DNA directed), epsilon 2, accessory subunit							65.0	65.0	65.0					14																	50118061		2203	4300	6503	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50118061G>T	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1246C>A	14.37:g.50118061G>T	ENSP00000216367:p.Arg416Ser					POLE2_ENST00000216367.5_Missense_Mutation_p.R416S|POLE2_ENST00000554396.1_Missense_Mutation_p.R416S|POLE2_ENST00000556584.1_5'UTR	p.R390S	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN			15	1386	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		416					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.1168C>A	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314979	0.81358	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.27890	1.64;1.64;1.64	5.52	4.62	0.57501	DNA polymerase alpha/epsilon, subunit B (1);	0.045210	0.85682	D	0.000000	T	0.66237	0.2769	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.83275	0.996;0.97;0.97	T	0.77411	-0.2598	10	0.87932	D	0	-8.5529	14.5239	0.67873	0.0707:0.0:0.9293:0.0	.	416;390;416	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	S	416;390;416	ENSP00000216367:R416S;ENSP00000446313:R390S;ENSP00000451621:R416S	ENSP00000216367:R416S	R	-	1	0	POLE2	49187811	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.086000	0.71352	1.454000	0.47793	0.655000	0.94253	CGT		0.308	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		6	16	1	0	0.000157383	1	0.000169016	6	16				
LRP6	4040	broad.mit.edu	37	12	12300346	12300346	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12300346A>C	ENST00000261349.4	-	15	3427	c.3351T>G	c.(3349-3351)ttT>ttG	p.F1117L	LRP6_ENST00000543091.1_Missense_Mutation_p.F1117L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1117	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATCAGCCCAAAAGAGCTTGC	0.433																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3349-3351)ttT>ttG		low density lipoprotein receptor-related protein 6							101.0	103.0	102.0					12																	12300346		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12300346A>C	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3351T>G	12.37:g.12300346A>C	ENSP00000261349:p.Phe1117Leu					LRP6_ENST00000543091.1_Missense_Mutation_p.F1117L	p.F1117L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			15	3427	-		Prostate(47;0.0865)	1117			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3351T>G	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804457	0.90623	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.97016	-4.21;-4.21	5.39	-1.64	0.08318	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000011	D	0.96981	0.9014	M	0.72894	2.215	0.58432	D	0.999996	D;D	0.76494	0.992;0.999	D;D	0.70716	0.97;0.935	D	0.95485	0.8564	10	0.62326	D	0.03	.	12.6166	0.56580	0.3094:0.0:0.6906:0.0	.	1117;1117	F5H7J9;O75581	.;LRP6_HUMAN	L	1117	ENSP00000261349:F1117L;ENSP00000442472:F1117L	ENSP00000261349:F1117L	F	-	3	2	LRP6	12191613	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	1.499000	0.35671	-0.199000	0.10317	0.460000	0.39030	TTT		0.433	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			5	91	0	0	0	1	0	5	91				
HIST1H2BO	8348	broad.mit.edu	37	6	27861429	27861429	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:27861429G>T	ENST00000303806.4	+	1	227	c.189G>T	c.(187-189)atG>atT	p.M63I	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	63					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										TGGGCATCATGAACTCCTTCG	0.562																																						ENST00000303806.4																			0											c.(187-189)atG>atT		histone cluster 1, H2bo							155.0	140.0	145.0					6																	27861429		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861429G>T	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.189G>T	6.37:g.27861429G>T	ENSP00000303408:p.Met63Ile						p.M63I	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	227	+			63					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.189G>T	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541780	0.65198	.	.	ENSG00000196331	ENST00000303806	T	0.69306	-0.39	3.51	3.51	0.40186	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.63283	0.2498	M	0.84511	2.7	0.46113	D	0.998874	B	0.24533	0.105	B	0.30029	0.11	T	0.72554	-0.4258	9	0.72032	D	0.01	.	14.8991	0.70664	0.0:0.0:1.0:0.0	.	63	P23527	H2B1O_HUMAN	I	63	ENSP00000303408:M63I	ENSP00000303408:M63I	M	+	3	0	HIST1H2BO	27969408	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.029000	0.93718	2.270000	0.75569	0.556000	0.70494	ATG		0.562	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		25	223	1	0	1.85244e-09	1	2.22951e-09	25	223				
ZNF292	23036	broad.mit.edu	37	6	87969514	87969514	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:87969514C>T	ENST00000369577.3	+	8	6210	c.6167C>T	c.(6166-6168)tCt>tTt	p.S2056F	ZNF292_ENST00000339907.4_Missense_Mutation_p.S2051F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2056						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACAGAAAGTTCTTTACAAGTG	0.353																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6166-6168)tCt>tTt		zinc finger protein 292							36.0	33.0	34.0					6																	87969514		1815	4068	5883	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969514C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6167C>T	6.37:g.87969514C>T	ENSP00000358590:p.Ser2056Phe					ZNF292_ENST00000339907.4_Missense_Mutation_p.S2051F	p.S2056F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6210	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2056					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6167C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273592	0.59649	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.09163	3.01;3.02	5.64	5.64	0.86602	.	0.305164	0.36519	N	0.002556	T	0.11067	0.0270	L	0.54323	1.7	0.42134	D	0.991486	P	0.49961	0.93	P	0.44732	0.459	T	0.01670	-1.1299	10	0.62326	D	0.03	.	19.726	0.96164	0.0:1.0:0.0:0.0	.	2056	O60281	ZN292_HUMAN	F	2056;2051	ENSP00000358590:S2056F;ENSP00000342847:S2051F	ENSP00000342847:S2051F	S	+	2	0	ZNF292	88026233	0.185000	0.23213	0.963000	0.40424	0.735000	0.41995	1.302000	0.33459	2.678000	0.91216	0.655000	0.94253	TCT		0.353	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		9	16	0	0	0	1	0	9	16				
DHX9	1660	broad.mit.edu	37	1	182821465	182821465	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:182821465T>G	ENST00000367549.3	+	4	460	c.350T>G	c.(349-351)cTg>cGg	p.L117R		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	117	Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CCTCCACATCTGGCTCTCAAA	0.468																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(349-351)cTg>cGg		DEAH (Asp-Glu-Ala-His) box helicase 9							71.0	68.0	69.0					1																	182821465		1965	4147	6112	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182821465T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.350T>G	1.37:g.182821465T>G	ENSP00000356520:p.Leu117Arg						p.L117R	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			4	460	+			117			Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.350T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.332878	0.24167	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.04083	3.71	4.46	4.46	0.54185	.	0.000000	0.56097	D	0.000033	T	0.12008	0.0292	M	0.68952	2.095	0.49687	D	0.999811	D	0.55172	0.97	P	0.56088	0.791	T	0.24154	-1.0168	10	0.13853	T	0.58	.	11.5754	0.50858	0.0:0.0:0.0:1.0	.	117	Q08211	DHX9_HUMAN	R	117	ENSP00000356520:L117R	ENSP00000356520:L117R	L	+	2	0	DHX9	181088088	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	4.942000	0.63547	1.782000	0.52362	0.477000	0.44152	CTG		0.468	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		12	23	0	0	0	1	0	12	23				
PRIMPOL	201973	broad.mit.edu	37	4	185580506	185580506	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185580506T>C	ENST00000314970.6	+	4	626	c.193T>C	c.(193-195)Ttt>Ctt	p.F65L	PRIMPOL_ENST00000515774.1_5'UTR|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.F65L|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.F65L	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	65					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										CGTTCATGTATTTGCTTTGGA	0.338																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(193-195)Ttt>Ctt									201.0	186.0	191.0					4																	185580506		2203	4300	6503	SO:0001583	missense	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185580506T>C	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.193T>C	4.37:g.185580506T>C	ENSP00000313816:p.Phe65Leu					CCDC111_ENST00000515774.1_5'UTR|CCDC111_ENST00000512834.1_Missense_Mutation_p.F65L|CCDC111_ENST00000503752.1_Missense_Mutation_p.F65L	p.F65L	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	4	626	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	65					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.193T>C	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325960	0.60743	.	.	ENSG00000164306	ENST00000314970;ENST00000503752;ENST00000512834	T;T;T	0.52526	0.67;0.67;0.66	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.81341	2.54	0.52099	D	0.999945	P;D	0.63880	0.926;0.993	P;P	0.56700	0.629;0.804	T	0.68055	-0.5510	10	0.42905	T	0.14	-8.7884	15.5712	0.76337	0.0:0.0:0.0:1.0	.	65;65	Q96LW4;D6RDM1	CC111_HUMAN;.	L	65	ENSP00000313816:F65L;ENSP00000420860:F65L;ENSP00000425316:F65L	ENSP00000313816:F65L	F	+	1	0	CCDC111	185817500	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	6.173000	0.71937	2.086000	0.62901	0.363000	0.22086	TTT		0.338	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		28	32	0	0	0	1	0	28	32				
ROBO3	64221	broad.mit.edu	37	11	124748211	124748211	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124748211G>A	ENST00000397801.1	+	22	3391	c.3199G>A	c.(3199-3201)Gtg>Atg	p.V1067M	ROBO3_ENST00000543966.1_Intron|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1045M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1067					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGGAGGCAAAGTGAAGCTTCT	0.582																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(3199-3201)Gtg>Atg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							48.0	61.0	57.0					11																	124748211		1941	4143	6084	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124748211G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3199G>A	11.37:g.124748211G>A	ENSP00000380903:p.Val1067Met					ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1045M	p.V1067M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	22	3391	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1067						Missense_Mutation	SNP	ENST00000397801.1	37	c.3199G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940048	0.52972	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.62639	0.01;0.02	5.44	3.31	0.37934	.	0.775582	0.10490	N	0.668507	T	0.49201	0.1543	N	0.22421	0.69	0.80722	D	1	P	0.34780	0.468	B	0.36808	0.233	T	0.44862	-0.9300	10	0.51188	T	0.08	.	9.2744	0.37690	0.0:0.1469:0.6827:0.1704	.	1067	Q96MS0	ROBO3_HUMAN	M	1067;1045	ENSP00000380903:V1067M;ENSP00000441797:V1045M	ENSP00000380903:V1067M	V	+	1	0	ROBO3	124253421	1.000000	0.71417	0.888000	0.34837	0.972000	0.66771	3.361000	0.52306	1.254000	0.44035	0.650000	0.86243	GTG		0.582	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		9	14	0	0	0	1	0	9	14				
HUWE1	10075	broad.mit.edu	37	X	53562435	53562435	+	Missense_Mutation	SNP	G	G	A	rs121918527		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:53562435G>A	ENST00000342160.3	-	80	13016	c.12559C>T	c.(12559-12561)Cgt>Tgt	p.R4187C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4187C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4187	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.		R -> C (in MRXS-Turner). {ECO:0000269|PubMed:18252223}.		base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGAGGTCACGAACTTCACAA	0.438																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153	GRCh37	CM081661	HUWE1	M	rs121918527	c.(12559-12561)Cgt>Tgt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							165.0	125.0	139.0					X																	53562435		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53562435G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12559C>T	X.37:g.53562435G>A	ENSP00000340648:p.Arg4187Cys					HUWE1_ENST00000262854.6_Missense_Mutation_p.R4187C	p.R4187C			Q7Z6Z7	HUWE1_HUMAN			80	13016	-			4187		R -> C (in MRXS-Turner).	HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12559C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.98|13.98	2.397590|2.397590	0.42512|0.42512	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.57752|.	0.38;0.38|.	5.39|5.39	5.39|5.39	0.77823|0.77823	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86049|0.86049	0.5840|0.5840	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	A|A	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79108|.	0.992;0.986|.	D|D	0.89519|0.89519	0.3777|0.3777	9|4	0.38643|.	T|.	0.18|.	.|.	17.1547|17.1547	0.86788|0.86788	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4187;4171|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	C|L	4187|3220;1009	ENSP00000340648:R4187C;ENSP00000262854:R4187C|.	ENSP00000262854:R4187C|.	R|S	-|-	1|2	0|0	HUWE1|HUWE1	53579160|53579160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.802000|6.802000	0.75175|0.75175	2.403000|2.403000	0.81681|0.81681	0.600000|0.600000	0.82982|0.82982	CGT|TCG		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		12	25	0	0	0	1	0	12	25				
SFMBT2	57713	broad.mit.edu	37	10	7242375	7242375	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7242375C>T	ENST00000361972.4	-	14	1649		c.e14+1		SFMBT2_ENST00000397167.1_Splice_Site	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2						negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.?(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGACTGATTACCTGTGGTGTC	0.468																																						ENST00000361972.4																			1	Unknown(1)	p.?(1)	large_intestine(1)	NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.e14+1		Scm-like with four mbt domains 2							109.0	109.0	109.0					10																	7242375		2203	4300	6503	SO:0001630	splice_region_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7242375C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1558+1G>A	10.37:g.7242375C>T						SFMBT2_ENST00000397167.1_Splice_Site		NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			14	1649	-								A7MD09|Q9HCF5	Splice_Site	SNP	ENST00000361972.4	37		CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088673	0.76756	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.259	0.90028	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFMBT2	7282381	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.554000	0.60760	2.736000	0.93811	0.655000	0.94253	.		0.468	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	Intron	24	47	0	0	0	1	0	24	47				
ZC2HC1C	79696	broad.mit.edu	37	14	75537671	75537671	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75537671G>A	ENST00000524913.1	+	2	884	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	ACYP1_ENST00000555463.1_5'Flank|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.R132Q|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.R132Q	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	132							metal ion binding (GO:0046872)										ACAAAGAAACGAGTTGGAGTG	0.512																																						ENST00000524913.1																			0											c.(394-396)cGa>cAa		zinc finger, C2HC-type containing 1C							99.0	97.0	97.0					14																	75537671		1862	4097	5959	SO:0001583	missense	79696							g.chr14:75537671G>A	AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"""Zinc fingers, C2HC-type containing"""	20354	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 140"", ""family with sequence similarity 164, member C"""	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.395G>A	14.37:g.75537671G>A	ENSP00000435550:p.Arg132Gln					ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.R132Q|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.R132Q	p.R132Q	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN			2	884	+			132					E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	ENST00000524913.1	37	c.395G>A	CCDS41972.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265992	0.59540	.	.	ENSG00000119703	ENST00000524913;ENST00000238686;ENST00000554763;ENST00000439583;ENST00000526130	T	0.52754	0.65	4.53	3.63	0.41609	.	0.183052	0.32372	N	0.006183	T	0.41328	0.1154	M	0.70595	2.14	0.26960	N	0.965835	D;P	0.53151	0.958;0.93	B;B	0.37144	0.242;0.191	T	0.45396	-0.9264	9	.	.	.	-1.5626	9.7568	0.40508	0.1814:0.0:0.8186:0.0	.	132;132	Q53FD0;E9PJQ0	F164C_HUMAN;.	Q	132	ENSP00000435550:R132Q	.	R	+	2	0	FAM164C	74607424	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	1.562000	0.36353	1.131000	0.42111	0.557000	0.71058	CGA		0.512	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430		61	100	0	0	0	1	0	61	100				
BRDT	676	broad.mit.edu	37	1	92467660	92467660	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:92467660G>T	ENST00000362005.3	+	17	2760	c.2342G>T	c.(2341-2343)aGt>aTt	p.S781I	BRDT_ENST00000370389.2_Missense_Mutation_p.S708I|BRDT_ENST00000399546.2_Missense_Mutation_p.S781I|BRDT_ENST00000394530.3_Missense_Mutation_p.S735I|BRDT_ENST00000402388.1_Missense_Mutation_p.S781I	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	781					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCTGGTGATAGTGACACAACG	0.338																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(2122-2124)aGt>aTt		bromodomain, testis-specific							121.0	111.0	114.0					1																	92467660		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92467660G>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2342G>T	1.37:g.92467660G>T	ENSP00000354568:p.Ser781Ile					BRDT_ENST00000402388.1_Missense_Mutation_p.S781I|BRDT_ENST00000394530.3_Missense_Mutation_p.S735I|BRDT_ENST00000399546.2_Missense_Mutation_p.S781I|BRDT_ENST00000362005.3_Missense_Mutation_p.S781I	p.S708I	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	16	3047	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	781					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.2123G>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	g	6.628	0.484374	0.12641	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	3.71	-1.63	0.08345	.	1.146050	0.06387	N	0.716268	T	0.09730	0.0239	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.26395	-1.0104	10	0.34782	T	0.22	-1.3712	2.383	0.04358	0.4074:0.0:0.2279:0.3647	.	735;735;785;781	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	I	781;708;781;735;781	ENSP00000354568:S781I;ENSP00000359416:S708I;ENSP00000387822:S781I;ENSP00000378038:S735I;ENSP00000384051:S781I	ENSP00000354568:S781I	S	+	2	0	BRDT	92240248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.971000	0.03806	-0.306000	0.08818	-0.285000	0.09966	AGT		0.338	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		6	26	1	0	0.00307968	1	0.00320271	6	26				
CYSLTR2	57105	broad.mit.edu	37	13	49281071	49281071	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49281071T>G	ENST00000282018.3	+	1	121	c.118T>G	c.(118-120)Ttt>Gtt	p.F40V		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	40					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CAAGAGAGAATTTTTCCCAAT	0.398																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(118-120)Ttt>Gtt		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						84.0	89.0	87.0					13																	49281071		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281071T>G	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.118T>G	13.37:g.49281071T>G	ENSP00000282018:p.Phe40Val						p.F40V	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	121	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	40					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.118T>G	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.320718	0.01320	.	.	ENSG00000152207	ENST00000282018	T	0.35789	1.29	6.08	4.83	0.62350	.	0.174316	0.37219	N	0.002199	T	0.16041	0.0386	N	0.08118	0	0.34215	D	0.674776	B	0.23128	0.08	B	0.18871	0.023	T	0.19778	-1.0295	10	0.21540	T	0.41	.	6.248	0.20830	0.2149:0.0:0.1326:0.6525	.	40	Q9NS75	CLTR2_HUMAN	V	40	ENSP00000282018:F40V	ENSP00000282018:F40V	F	+	1	0	CYSLTR2	48179072	0.955000	0.32602	0.791000	0.31998	0.224000	0.24922	1.565000	0.36386	2.333000	0.79357	0.533000	0.62120	TTT		0.398	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			16	36	0	0	0	1	0	16	36				
GPRASP1	9737	broad.mit.edu	37	X	101912218	101912218	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101912218G>A	ENST00000361600.5	+	5	4178	c.3377G>A	c.(3376-3378)cGa>cAa	p.R1126Q	GPRASP1_ENST00000537097.1_Missense_Mutation_p.R1126Q|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R1126Q|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R1126Q	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1126	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGGAAATTCGAGAGCATCTT	0.463													G|||	1	0.000264901	0.0	0.0	3775	,	,		13336	0.0		0.0	False		,,,				2504	0.001					ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3376-3378)cGa>cAa		G protein-coupled receptor associated sorting protein 1							121.0	108.0	112.0					X																	101912218		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912218G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3377G>A	X.37:g.101912218G>A	ENSP00000355146:p.Arg1126Gln					GPRASP1_ENST00000444152.1_Missense_Mutation_p.R1126Q|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R1126Q|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R1126Q	p.R1126Q	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4190	+			1126			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3377G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	7.402	0.632894	0.14322	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	2.74	1.86	0.25419	Armadillo-type fold (1);	.	.	.	.	T	0.11965	0.0291	M	0.66939	2.045	0.23411	N	0.997734	P	0.36438	0.553	B	0.25140	0.058	T	0.21415	-1.0246	9	0.56958	D	0.05	-1.9212	4.949	0.14004	0.1795:0.0:0.8205:0.0	.	1126	Q5JY77	GASP1_HUMAN	Q	1126	ENSP00000393691:R1126Q;ENSP00000409420:R1126Q;ENSP00000355146:R1126Q;ENSP00000445683:R1126Q	ENSP00000355146:R1126Q	R	+	2	0	GPRASP1	101798874	0.982000	0.34865	0.995000	0.50966	0.686000	0.39977	0.891000	0.28309	0.568000	0.29311	0.284000	0.19432	CGA		0.463	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		52	76	0	0	0	1	0	52	76				
KCNMA1	3778	broad.mit.edu	37	10	78868324	78868324	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:78868324A>G	ENST00000286628.8	-	9	1137	c.1138T>C	c.(1138-1140)Ttt>Ctt	p.F380L	KCNMA1_ENST00000354353.5_Missense_Mutation_p.F380L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F380L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F380L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000286627.5_Missense_Mutation_p.F380L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.F380L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	380					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TAGCTGGCAAACATGGCCTGA	0.468																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(1138-1140)Ttt>Ctt		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						85.0	85.0	85.0					10																	78868324		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78868324A>G	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1138T>C	10.37:g.78868324A>G	ENSP00000286628:p.Phe380Leu					KCNMA1_ENST00000372443.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.F380L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F380L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.F380L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F380L	p.F380L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		9	2090	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		380					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.1138T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.7|29.7	5.032314|5.032314	0.93575|0.93575	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	D;D;D;D;D;D;D;D;D|.	0.97959|.	-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Ion transport (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55178|0.55178	0.1904|0.1904	N|N	0.26092|0.26092	0.79|0.79	0.80722|0.80722	D|D	1|1	D;P;D;D;P;D;D|.	0.89917|.	0.994;0.924;0.992;1.0;0.931;0.997;0.999|.	D;D;D;D;P;D;D|.	0.91635|.	0.992;0.953;0.985;0.999;0.908;0.996;0.997|.	T|T	0.51560|0.51560	-0.8690|-0.8690	10|5	0.87932|.	D|.	0|.	-11.2123|-11.2123	16.3662|16.3662	0.83325|0.83325	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	380;380;380;380;380;162;380|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.|.	L|A	380;317;315;354;317;380;380;354;380;380;380;162|368;58	ENSP00000361517:F380L;ENSP00000361485:F317L;ENSP00000361514:F315L;ENSP00000396608:F354L;ENSP00000361520:F380L;ENSP00000286627:F380L;ENSP00000385552:F380L;ENSP00000346321:F380L;ENSP00000385806:F380L|.	ENSP00000286627:F380L|.	F|V	-|-	1|2	0|0	KCNMA1|KCNMA1	78538330|78538330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.932000|8.932000	0.92897|0.92897	2.274000|2.274000	0.75844|0.75844	0.533000|0.533000	0.62120|0.62120	TTT|GTT		0.468	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		17	34	0	0	0	1	0	17	34				
FAM160A2	84067	broad.mit.edu	37	11	6244441	6244441	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6244441A>G	ENST00000449352.2	-	4	1068	c.805T>C	c.(805-807)Tac>Cac	p.Y269H	FAM160A2_ENST00000265978.4_Missense_Mutation_p.Y269H|FAM160A2_ENST00000524416.1_Missense_Mutation_p.Y269H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	269					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGATGAGTACAGGGCACTG	0.478																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(805-807)Tac>Cac		family with sequence similarity 160, member A2							106.0	108.0	107.0					11																	6244441		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244441A>G		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.805T>C	11.37:g.6244441A>G	ENSP00000416918:p.Tyr269His					FAM160A2_ENST00000524416.1_Missense_Mutation_p.Y269H|FAM160A2_ENST00000449352.2_Missense_Mutation_p.Y269H	p.Y269H	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			4	1163	-			269					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.805T>C	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316610	0.81469	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.61627	0.09;0.09;0.09	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.88979	2.995	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.83367	0.0005	10	0.66056	D	0.02	-14.7519	14.4538	0.67404	1.0:0.0:0.0:0.0	.	269;269;269	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	269;194;269;269	ENSP00000416918:Y269H;ENSP00000265978:Y269H;ENSP00000431773:Y269H	ENSP00000265978:Y269H	Y	-	1	0	FAM160A2	6201017	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.139000	0.94554	2.209000	0.71365	0.533000	0.62120	TAC		0.478	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		20	168	0	0	0	1	0	20	168				
ZNF624	57547	broad.mit.edu	37	17	16527311	16527311	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:16527311T>C	ENST00000311331.7	-	6	980	c.889A>G	c.(889-891)Act>Gct	p.T297A		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTAGTATGAGTTCTTTGATGT	0.343																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(889-891)Act>Gct		zinc finger protein 624							110.0	115.0	113.0					17																	16527311		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527311T>C	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.889A>G	17.37:g.16527311T>C	ENSP00000310472:p.Thr297Ala						p.T297A	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	980	-			297					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.889A>G	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249929	0.22880	.	.	ENSG00000197566	ENST00000311331	T	0.11930	2.73	3.32	3.32	0.38043	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.46947	1.48	0.23478	N	0.997599	B	0.19445	0.036	B	0.22601	0.04	T	0.13308	-1.0514	9	0.48119	T	0.1	.	10.0065	0.41959	0.0:0.0:0.0:1.0	.	297	Q9P2J8	ZN624_HUMAN	A	297	ENSP00000310472:T297A	ENSP00000310472:T297A	T	-	1	0	ZNF624	16468036	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	0.753000	0.26376	1.532000	0.49169	0.460000	0.39030	ACT		0.343	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		21	51	0	0	0	1	0	21	51				
SLITRK3	22865	broad.mit.edu	37	3	164907717	164907717	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164907717C>A	ENST00000475390.1	-	2	1345	c.902G>T	c.(901-903)aGt>aTt	p.S301I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S301I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	301					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATTCTCCTTACTTGATGACGA	0.438										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(901-903)aGt>aTt		SLIT and NTRK-like family, member 3							125.0	128.0	127.0					3																	164907717		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907717C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.902G>T	3.37:g.164907717C>A	ENSP00000420091:p.Ser301Ile	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.S301I	p.S301I			O94933	SLIK3_HUMAN			2	1345	-			301					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.902G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	2.500	-0.315364	0.05422	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.44083	0.93;0.93	5.75	0.373	0.16178	.	0.182609	0.26820	N	0.022339	T	0.31827	0.0809	L	0.49350	1.555	0.40116	D	0.97654	B	0.32693	0.38	B	0.31191	0.125	T	0.06679	-1.0813	10	0.28530	T	0.3	-2.3861	9.8478	0.41037	0.0:0.6328:0.0:0.3672	.	301	O94933	SLIK3_HUMAN	I	301	ENSP00000420091:S301I;ENSP00000241274:S301I	ENSP00000241274:S301I	S	-	2	0	SLITRK3	166390411	0.998000	0.40836	0.660000	0.29694	0.204000	0.24138	0.661000	0.25023	-0.228000	0.09869	0.655000	0.94253	AGT		0.438	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		37	65	1	0	3.6622e-26	1	5.17531e-26	37	65				
USP24	23358	broad.mit.edu	37	1	55624553	55624553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55624553C>A	ENST00000294383.6	-	10	1224	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	USP24_ENST00000407756.1_Nonsense_Mutation_p.E297*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	409					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAACTTACTTCTTTGAGAGAA	0.348																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1225-1227)Gaa>Taa		ubiquitin specific peptidase 24							59.0	55.0	56.0					1																	55624553		1839	4089	5928	SO:0001587	stop_gained	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55624553C>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1225G>T	1.37:g.55624553C>A	ENSP00000294383:p.Glu409*					USP24_ENST00000407756.1_Nonsense_Mutation_p.E297*	p.E409*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			10	1224	-			409					Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	ENST00000294383.6	37	c.1225G>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	38	6.641463	0.97726	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.9089	0.97019	0.0:1.0:0.0:0.0	.	.	.	.	X	409;297	.	ENSP00000294383:E409X	E	-	1	0	USP24	55397141	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.610000	0.82949	2.709000	0.92574	0.591000	0.81541	GAA		0.348	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			5	11	1	0	0.000602214	1	0.000636035	5	11				
SLC12A6	9990	broad.mit.edu	37	15	34531322	34531322	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34531322A>C	ENST00000354181.3	-	20	2968	c.2476T>G	c.(2476-2478)Ttc>Gtc	p.F826V	SLC12A6_ENST00000560164.1_Missense_Mutation_p.F638V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.F826V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.F826V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.F638V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.F775V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.F811V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.F817V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	826					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGCTGGCAGAATCCTTTTACC	0.527																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2476-2478)Ttc>Gtc		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						151.0	142.0	145.0					15																	34531322		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34531322A>C	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2476T>G	15.37:g.34531322A>C	ENSP00000346112:p.Phe826Val					SLC12A6_ENST00000560611.1_Missense_Mutation_p.F826V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.F638V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.F638V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.F811V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.F817V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.F775V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.F826V	p.F826V			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	20	2968	-		all_lung(180;2.78e-08)	826					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2476T>G	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685826	0.88639	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.97907	0.9312	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.981;0.969	D;D;D;P	0.80764	0.993;0.994;0.933;0.678	D	0.98824	1.0748	10	0.87932	D	0	.	13.7847	0.63102	1.0:0.0:0.0:0.0	.	811;826;775;638	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	V	775;811;817;767;767;638	ENSP00000290209:F775V;ENSP00000380819:F811V;ENSP00000380814:F767V;ENSP00000387725:F767V;ENSP00000390199:F638V	ENSP00000290209:F775V	F	-	1	0	SLC12A6	32318614	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.120000	0.94369	2.078000	0.62432	0.455000	0.32223	TTC		0.527	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		52	101	0	0	0	1	0	52	101				
PDCD1	5133	broad.mit.edu	37	2	242795030	242795030	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242795030G>A	ENST00000334409.5	-	2	248	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	60	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GAAGCTCTCCGATGTGTTGGA	0.657																																						ENST00000334409.5																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(178-180)tCg>tTg		programmed cell death 1							65.0	56.0	59.0					2																	242795030		2203	4300	6503	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242795030G>A	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.179C>T	2.37:g.242795030G>A	ENSP00000335062:p.Ser60Leu						p.S60L	NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	2	248	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	60			Ig-like V-type.		O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.179C>T	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	8.698	0.909151	0.17833	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.22336	1.96	3.53	1.61	0.23674	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.849075	0.10091	N	0.717174	T	0.17023	0.0409	L	0.32530	0.975	0.09310	N	1	D	0.56746	0.977	B	0.43018	0.405	T	0.16571	-1.0398	10	0.37606	T	0.19	-10.7589	9.5893	0.39537	0.0:0.3795:0.6205:0.0	.	60	Q15116	PDCD1_HUMAN	L	60	ENSP00000335062:S60L	ENSP00000335062:S60L	S	-	2	0	PDCD1	242443703	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	1.124000	0.31320	0.438000	0.26450	0.556000	0.70494	TCG		0.657	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		14	26	0	0	0	1	0	14	26				
TLR8	51311	broad.mit.edu	37	X	12938499	12938499	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:12938499T>C	ENST00000218032.6	+	2	1427	c.1340T>C	c.(1339-1341)tTt>tCt	p.F447S	TLR8_ENST00000311912.5_Missense_Mutation_p.F465S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	447					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AGTTCCTCTTTTCAACGTCAT	0.378																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1339-1341)tTt>tCt		toll-like receptor 8							64.0	61.0	62.0					X																	12938499		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938499T>C	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1340T>C	X.37:g.12938499T>C	ENSP00000218032:p.Phe447Ser					TLR8_ENST00000311912.5_Missense_Mutation_p.F465S	p.F447S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	1427	+			447					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.1340T>C	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	0.043	-1.276187	0.01410	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.44881	0.91;0.91	4.93	-3.85	0.04243	.	0.643773	0.12863	N	0.432925	T	0.18257	0.0438	N	0.12182	0.205	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.08055	0.003;0.003	T	0.18903	-1.0322	10	0.22109	T	0.4	.	6.706	0.23250	0.0:0.3755:0.4425:0.182	.	447;465	Q9NR97;D1CS70	TLR8_HUMAN;.	S	447;465	ENSP00000218032:F447S;ENSP00000312082:F465S	ENSP00000218032:F447S	F	+	2	0	TLR8	12848420	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.355000	0.07671	-0.686000	0.05170	0.486000	0.48141	TTT		0.378	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		43	18	0	0	0	1	0	43	18				
ZNF418	147686	broad.mit.edu	37	19	58441904	58441904	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58441904C>A	ENST00000396147.1	-	3	316	c.25G>T	c.(25-27)Gat>Tat	p.D9Y	ZNF418_ENST00000425570.3_Missense_Mutation_p.D30Y|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.D9Y|ZNF418_ENST00000600989.1_Missense_Mutation_p.D9Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACAGCCACATCTTCAAATGCC	0.512																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(25-27)Gat>Tat		zinc finger protein 418							166.0	150.0	155.0					19																	58441904		2203	4300	6503	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58441904C>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.25G>T	19.37:g.58441904C>A	ENSP00000379451:p.Asp9Tyr					ZNF418_ENST00000425570.3_Missense_Mutation_p.D30Y|ZNF418_ENST00000595830.1_Missense_Mutation_p.D9Y|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000600989.1_Missense_Mutation_p.D9Y	p.D9Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	3	316	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	9			KRAB.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.25G>T	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	14.14	2.447405	0.43429	.	.	ENSG00000196724	ENST00000396147;ENST00000425570	T;T	0.12039	2.72;2.72	2.75	2.75	0.32379	Krueppel-associated box (4);	.	.	.	.	T	0.58552	0.2130	H	0.99914	4.94	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60637	-0.7224	9	0.87932	D	0	.	11.2376	0.48951	0.0:1.0:0.0:0.0	.	9	Q8TF45	ZN418_HUMAN	Y	9;30	ENSP00000379451:D9Y;ENSP00000407039:D30Y	ENSP00000379451:D9Y	D	-	1	0	ZNF418	63133716	0.701000	0.27806	0.050000	0.19076	0.111000	0.19643	3.878000	0.56130	1.536000	0.49237	0.313000	0.20887	GAT		0.512	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		34	82	1	0	2.20474e-14	1	2.87106e-14	34	82				
YAE1D1	57002	broad.mit.edu	37	7	39611989	39611989	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:39611989A>T	ENST00000223273.2	+	3	408	c.365A>T	c.(364-366)aAa>aTa	p.K122I	YAE1D1_ENST00000448268.1_3'UTR|YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	122																	AAACATCTGAAATCAATCACT	0.378																																						ENST00000223273.2																			0											c.(364-366)aAa>aTa		Yae1 domain containing 1							132.0	121.0	124.0					7																	39611989		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39611989A>T	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.365A>T	7.37:g.39611989A>T	ENSP00000223273:p.Lys122Ile					YAE1D1_ENST00000448268.1_3'UTR|YAE1D1_ENST00000432096.2_Intron	p.K122I	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN			3	408	+			122					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.365A>T	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817318	0.50633	.	.	ENSG00000241127	ENST00000223273	T	0.49139	0.79	5.93	3.63	0.41609	.	0.679220	0.15527	N	0.257692	T	0.42675	0.1213	L	0.60455	1.87	0.22918	N	0.998567	P	0.45902	0.868	B	0.37047	0.24	T	0.34153	-0.9840	10	0.56958	D	0.05	-0.5911	12.8451	0.57825	0.6948:0.3052:0.0:0.0	.	122	Q9NRH1	CG036_HUMAN	I	122	ENSP00000223273:K122I	ENSP00000223273:K122I	K	+	2	0	C7orf36	39578514	0.870000	0.30015	0.977000	0.42913	0.963000	0.63663	1.633000	0.37113	1.062000	0.40625	-0.313000	0.08912	AAA		0.378	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		19	42	0	0	0	1	0	19	42				
PCDHA4	56144	broad.mit.edu	37	5	140188074	140188074	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140188074G>A	ENST00000530339.1	+	1	1302	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	PCDHA4_ENST00000512229.2_Silent_p.S434S|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.S434S|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCTTCGCTGTGGGCCA	0.612																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1300-1302)tcG>tcA									96.0	98.0	97.0					5																	140188074		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188074G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1302G>A	5.37:g.140188074G>A						PCDHA4_ENST00000356878.4_Silent_p.S434S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.S434S	p.S434S	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1302	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1302G>A	CCDS54916.1																																																																																				0.612	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		93	144	0	0	0	1	0	93	144				
DNAH11	8701	broad.mit.edu	37	7	21747358	21747358	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21747358G>A	ENST00000409508.3	+	40	6619	c.6588G>A	c.(6586-6588)caG>caA	p.Q2196Q	DNAH11_ENST00000328843.6_Silent_p.Q2203Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2203	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACATGAAACAGAAGCCGGTTT	0.388									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(6607-6609)caG>caA		dynein, axonemal, heavy chain 11							74.0	71.0	72.0					7																	21747358		1849	4088	5937	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21747358G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6588G>A	7.37:g.21747358G>A						DNAH11_ENST00000409508.3_Silent_p.Q2196Q	p.Q2203Q			Q96DT5	DYH11_HUMAN			41	6640	+			2203			AAA 2 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.6609G>A																																																																																					0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		9	23	0	0	0	1	0	9	23				
CTNNA2	1496	broad.mit.edu	37	2	80874726	80874726	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:80874726C>T	ENST00000402739.4	+	18	2596	c.2591C>T	c.(2590-2592)tCg>tTg	p.S864L	CTNNA2_ENST00000361291.4_Missense_Mutation_p.S850L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S771L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S495L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S816L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	864					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGTGCCACATCGCTTATCCAG	0.448																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2446-2448)tCg>tTg		catenin (cadherin-associated protein), alpha 2							112.0	110.0	111.0					2																	80874726		1960	4167	6127	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874726C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2591C>T	2.37:g.80874726C>T	ENSP00000384638:p.Ser864Leu					CTNNA2_ENST00000402739.4_Missense_Mutation_p.S864L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S850L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S771L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S495L	p.S816L			P26232	CTNA2_HUMAN			22	3171	+			864					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2447C>T		.	.	.	.	.	.	.	.	.	.	C	25.3	4.628847	0.87560	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	6.07	6.07	0.98685	.	0.142751	0.48767	D	0.000172	T	0.78413	0.4279	M	0.87038	2.855	0.80722	D	1	P;D;D;D	0.89917	0.926;1.0;1.0;1.0	P;D;D;D	0.97110	0.468;1.0;1.0;0.981	T	0.78907	-0.2019	9	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	448;864;771;816	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	L	816;816;850;864;816;771;495	ENSP00000418191:S816L;ENSP00000419295:S816L;ENSP00000355398:S850L;ENSP00000384638:S864L;ENSP00000444675:S816L;ENSP00000441705:S771L;ENSP00000341500:S495L	.	S	+	2	0	CTNNA2	80728237	1.000000	0.71417	0.915000	0.36163	0.993000	0.82548	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	TCG		0.448	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		33	69	0	0	0	1	0	33	69				
THNSL1	79896	broad.mit.edu	37	10	25314002	25314002	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25314002A>G	ENST00000524413.1	+	3	2197	c.1850A>G	c.(1849-1851)gAc>gGc	p.D617G	THNSL1_ENST00000376356.4_Missense_Mutation_p.D617G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	617						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	TTTGTAGCTGACTGGTGCTCT	0.413																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1849-1851)gAc>gGc		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						83.0	91.0	88.0					10																	25314002		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25314002A>G	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1850A>G	10.37:g.25314002A>G	ENSP00000434887:p.Asp617Gly					THNSL1_ENST00000376356.4_Missense_Mutation_p.D617G	p.D617G			Q8IYQ7	THNS1_HUMAN			3	2197	+			617					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.1850A>G	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	A	0.492	-0.874804	0.02550	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.10477	2.87;2.87	5.94	4.82	0.62117	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.055946	0.64402	D	0.000001	T	0.02767	0.0083	N	0.01188	-0.97	0.40776	D	0.983132	B	0.09022	0.002	B	0.12156	0.007	T	0.35943	-0.9768	10	0.02654	T	1	-20.9885	7.0789	0.25219	0.7949:0.0:0.2051:0.0	.	617	Q8IYQ7	THNS1_HUMAN	G	617	ENSP00000434887:D617G;ENSP00000365534:D617G	ENSP00000365534:D617G	D	+	2	0	THNSL1	25354008	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	4.350000	0.59392	2.279000	0.76181	0.459000	0.35465	GAC		0.413	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		29	45	0	0	0	1	0	29	45				
TPTE	7179	broad.mit.edu	37	21	10920137	10920137	+	Nonsense_Mutation	SNP	G	G	A	rs537312499	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10920137G>A	ENST00000361285.4	-	19	1446	c.1117C>T	c.(1117-1119)Cga>Tga	p.R373*	TPTE_ENST00000298232.7_Nonsense_Mutation_p.R355*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R335*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	373	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTATCTGTTCGCCTTTCTCCA	0.383													.|||	2	0.000399361	0.0	0.0	5008	,	,		44876	0.002		0.0	False		,,,				2504	0.0					ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1063-1065)Cga>Tga		transmembrane phosphatase with tensin homology							100.0	94.0	96.0					21																	10920137		2203	4299	6502	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10920137G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1117C>T	21.37:g.10920137G>A	ENSP00000355208:p.Arg373*					TPTE_ENST00000342420.5_Nonsense_Mutation_p.R335*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.R373*	p.R355*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	18	1430	-			373			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.1063C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	20.3	3.959749	0.74016	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.32	0.0779	0.14410	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0153	3.162	0.06523	0.165:0.0:0.5866:0.2484	.	.	.	.	X	355;373;335	.	ENSP00000298232:R355X	R	-	1	2	TPTE	9942008	0.933000	0.31639	0.576000	0.28549	0.119000	0.20118	1.274000	0.33132	0.234000	0.21139	-1.109000	0.02080	CGA		0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			11	61	0	0	0	1	0	11	61				
RIMS1	22999	broad.mit.edu	37	6	72806813	72806813	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:72806813G>A	ENST00000521978.1	+	3	407	c.407G>A	c.(406-408)cGc>cAc	p.R136H	RIMS1_ENST00000522291.1_Missense_Mutation_p.R136H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R136H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R136H|RIMS1_ENST00000348717.5_Missense_Mutation_p.R136H|RIMS1_ENST00000520567.1_Missense_Mutation_p.R136H|RIMS1_ENST00000264839.7_Missense_Mutation_p.R136H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R136H	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	136	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R136H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCCTATTGTCGCACTAAGTTC	0.507																																						ENST00000264839.7																			1	Substitution - Missense(1)	p.R136H(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(406-408)cGc>cAc		regulating synaptic membrane exocytosis 1							85.0	88.0	87.0					6																	72806813		2088	4236	6324	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72806813G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.407G>A	6.37:g.72806813G>A	ENSP00000428417:p.Arg136His					RIMS1_ENST00000522291.1_Missense_Mutation_p.R136H|RIMS1_ENST00000521978.1_Missense_Mutation_p.R136H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R136H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R136H|RIMS1_ENST00000348717.5_Missense_Mutation_p.R136H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R136H|RIMS1_ENST00000520567.1_Missense_Mutation_p.R136H	p.R136H			Q86UR5	RIMS1_HUMAN			3	407	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	136			RabBD.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.407G>A	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990869	0.93106	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000011	T	0.63236	0.2494	L	0.32530	0.975	0.80722	D	1	P	0.46064	0.872	B	0.38683	0.279	T	0.70920	-0.4741	10	0.66056	D	0.02	-8.618	20.0804	0.97772	0.0:0.0:1.0:0.0	.	136	Q86UR5	RIMS1_HUMAN	H	136	ENSP00000430101:R136H;ENSP00000275037:R136H;ENSP00000264839:R136H;ENSP00000429959:R136H;ENSP00000430408:R136H;ENSP00000430502:R136H;ENSP00000430932:R136H;ENSP00000428417:R136H	ENSP00000264839:R136H	R	+	2	0	RIMS1	72863534	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.297000	0.78799	2.738000	0.93877	0.655000	0.94253	CGC		0.507	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			14	25	0	0	0	1	0	14	25				
CLCN7	1186	broad.mit.edu	37	16	1510831	1510831	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1510831C>T	ENST00000382745.4	-	5	1075	c.470G>A	c.(469-471)aGg>aAg	p.R157K	CLCN7_ENST00000262318.8_Missense_Mutation_p.R133K|CLCN7_ENST00000448525.1_Missense_Mutation_p.R133K	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	157					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CTTGATGACCCTGTACTTGAG	0.637																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(469-471)aGg>aAg		chloride channel, voltage-sensitive 7							93.0	78.0	83.0					16																	1510831		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1510831C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.470G>A	16.37:g.1510831C>T	ENSP00000372193:p.Arg157Lys					CLCN7_ENST00000448525.1_Missense_Mutation_p.R133K|CLCN7_ENST00000262318.8_Missense_Mutation_p.R133K	p.R157K	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			5	1075	-		Hepatocellular(780;0.0893)	157					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.470G>A	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	4.418	0.077213	0.08485	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.84223	-1.82;-1.82	4.7	3.7	0.42460	Chloride channel, core (2);	0.650704	0.15751	N	0.246406	T	0.63686	0.2532	N	0.04508	-0.205	0.21220	N	0.999754	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49670	-0.8915	10	0.07644	T	0.81	-21.6841	7.1096	0.25382	0.0:0.7711:0.0:0.2289	.	133;157	E9PDB9;P51798	.;CLCN7_HUMAN	K	133;110;157;99	ENSP00000410907:R133K;ENSP00000372193:R157K	ENSP00000262318:R110K	R	-	2	0	CLCN7	1450832	0.000000	0.05858	0.776000	0.31678	0.951000	0.60555	0.416000	0.21198	0.828000	0.34709	0.591000	0.81541	AGG		0.637	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		15	41	0	0	0	1	0	15	41				
TBC1D2	55357	broad.mit.edu	37	9	100961799	100961799	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100961799A>G	ENST00000375066.5	-	13	2709	c.2618T>C	c.(2617-2619)gTc>gCc	p.V873A	TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V666A|TBC1D2_ENST00000375063.1_Missense_Mutation_p.V424A	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	884					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTCCCGGTGGACCATGCGCAG	0.637																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2617-2619)gTc>gCc		TBC1 domain family, member 2							122.0	129.0	127.0					9																	100961799		2203	4298	6501	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100961799A>G	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2618T>C	9.37:g.100961799A>G	ENSP00000364207:p.Val873Ala					TBC1D2_ENST00000342112.5_Missense_Mutation_p.V666A|TBC1D2_ENST00000375063.1_Missense_Mutation_p.V424A|TBC1D2_ENST00000375064.1_3'UTR	p.V873A	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	13	2709	-		Myeloproliferative disorder(762;0.0255)	884					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	c.2618T>C	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	A	3.261	-0.151187	0.06585	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.07114	3.22;3.65;3.22	5.51	-2.16	0.07080	.	1.098330	0.06770	N	0.783317	T	0.02047	0.0064	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.44757	-0.9307	10	0.15499	T	0.54	.	1.6494	0.02768	0.4869:0.1179:0.1746:0.2207	.	884;873	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	A	873;666;424	ENSP00000364207:V873A;ENSP00000341567:V666A;ENSP00000364203:V424A	ENSP00000341567:V666A	V	-	2	0	TBC1D2	100001620	0.000000	0.05858	0.009000	0.14445	0.525000	0.34531	-0.402000	0.07223	-0.249000	0.09569	-0.558000	0.04189	GTC		0.637	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		89	171	0	0	0	1	0	89	171				
OCRL	4952	broad.mit.edu	37	X	128696430	128696430	+	Missense_Mutation	SNP	C	C	T	rs137853831		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128696430C>T	ENST00000371113.4	+	11	1174	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	OCRL_ENST00000357121.5_Missense_Mutation_p.R337C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	337	5-phosphatase.		R -> C (in OCRL; associated with I-361; dbSNP:rs137853831). {ECO:0000269|PubMed:21031565}.|R -> P (in OCRL).		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCGATACATTCGTGATATTGC	0.393																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1009-1011)Cgt>Tgt		oculocerebrorenal syndrome of Lowe							230.0	200.0	210.0					X																	128696430		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128696430C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1009C>T	X.37:g.128696430C>T	ENSP00000360154:p.Arg337Cys					OCRL_ENST00000357121.5_Missense_Mutation_p.R337C	p.R337C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			11	1174	+			337		R -> C (in OCRL; associated with I-361; dbSNP:rs137853831).|R -> P (in OCRL).			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1009C>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329893	0.41297	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95656	-3.77;-3.77	5.54	4.69	0.59074	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.232471	0.42053	N	0.000761	D	0.94377	0.8192	M	0.84326	2.69	0.58432	D	0.999999	B;B	0.16603	0.007;0.018	B;B	0.15484	0.003;0.013	D	0.91478	0.5202	10	0.62326	D	0.03	.	8.1593	0.31190	0.1663:0.7482:0.0:0.0855	.	337;337	Q01968-2;Q01968	.;OCRL_HUMAN	C	337	ENSP00000360154:R337C;ENSP00000349635:R337C	ENSP00000349635:R337C	R	+	1	0	OCRL	128524111	0.723000	0.28027	0.993000	0.49108	0.972000	0.66771	1.167000	0.31847	1.108000	0.41662	0.513000	0.50165	CGT		0.393	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		53	103	0	0	0	1	0	53	103				
PDE1B	5153	broad.mit.edu	37	12	54963137	54963137	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54963137A>G	ENST00000243052.3	+	4	833	c.397A>G	c.(397-399)Atc>Gtc	p.I133V	PDE1B_ENST00000550620.1_Missense_Mutation_p.I113V|PDE1B_ENST00000538346.1_Missense_Mutation_p.I92V|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	133					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GCAGGCTGGGATCTTCGTGGA	0.637																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(397-399)Atc>Gtc		phosphodiesterase 1B, calmodulin-dependent							52.0	53.0	52.0					12																	54963137		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963137A>G	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.397A>G	12.37:g.54963137A>G	ENSP00000243052:p.Ile133Val					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.I92V|PDE1B_ENST00000550620.1_Missense_Mutation_p.I113V	p.I133V	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			4	833	+			133					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.397A>G	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294309	0.81025	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70631	-0.5;-0.46;-0.47	5.21	5.21	0.72293	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	M	0.69248	2.105	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.82581	-0.0386	10	0.51188	T	0.08	.	13.3537	0.60615	1.0:0.0:0.0:0.0	.	113;133	Q01064-2;Q01064	.;PDE1B_HUMAN	V	133;92;113	ENSP00000243052:I133V;ENSP00000442559:I92V;ENSP00000448519:I113V	ENSP00000243052:I133V	I	+	1	0	PDE1B	53249404	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.011000	0.93618	2.105000	0.64084	0.533000	0.62120	ATC		0.637	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			20	38	0	0	0	1	0	20	38				
CHST8	64377	broad.mit.edu	37	19	34263626	34263626	+	Silent	SNP	C	C	T	rs571799934		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:34263626C>T	ENST00000262622.4	+	4	1691	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CHST8_ENST00000434302.1_Silent_p.F311F|CHST8_ENST00000438847.3_Silent_p.F311F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	311					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCCCGAGTTCGTCCAGTACC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17556	0.0		0.001	False		,,,				2504	0.0					ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(931-933)ttC>ttT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							56.0	49.0	51.0					19																	34263626		2203	4300	6503	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263626C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.933C>T	19.37:g.34263626C>T						CHST8_ENST00000438847.2_Silent_p.F311F|CHST8_ENST00000434302.1_Silent_p.F311F	p.F311F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1691	+	Esophageal squamous(110;0.162)		311					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.933C>T	CCDS12433.1																																																																																				0.652	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		21	35	0	0	0	1	0	21	35				
CD109	135228	broad.mit.edu	37	6	74472181	74472181	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74472181A>G	ENST00000287097.5	+	8	945	c.833A>G	c.(832-834)aAa>aGa	p.K278R	CD109_ENST00000422508.2_Missense_Mutation_p.K201R|CD109_ENST00000437994.2_Missense_Mutation_p.K278R			Q6YHK3	CD109_HUMAN	CD109 molecule	278					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAAAGAAGAAAAATATTACA	0.289																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(832-834)aAa>aGa		CD109 molecule							46.0	50.0	49.0					6																	74472181		2203	4291	6494	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74472181A>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.833A>G	6.37:g.74472181A>G	ENSP00000287097:p.Lys278Arg					CD109_ENST00000422508.2_Missense_Mutation_p.K201R|CD109_ENST00000287097.5_Missense_Mutation_p.K278R	p.K278R	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			8	1264	+			278					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.833A>G	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	A	4.948	0.176049	0.09443	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.24151	1.87;2.08;1.87	5.08	3.91	0.45181	.	0.459428	0.24856	N	0.035042	T	0.02688	0.0081	N	0.10972	0.075	0.31550	N	0.658884	B;B;B;B	0.11235	0.001;0.002;0.001;0.004	B;B;B;B	0.10450	0.001;0.002;0.005;0.003	T	0.42832	-0.9428	10	0.05620	T	0.96	.	4.4468	0.11602	0.6598:0.169:0.1712:0.0	.	201;278;278;278	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	R	278;201;278	ENSP00000388062:K278R;ENSP00000404475:K201R;ENSP00000287097:K278R	ENSP00000287097:K278R	K	+	2	0	CD109	74528902	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	2.017000	0.40981	1.054000	0.40438	0.533000	0.62120	AAA		0.289	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		11	17	0	0	0	1	0	11	17				
ZNF585A	199704	broad.mit.edu	37	19	37644184	37644184	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37644184C>A	ENST00000356958.4	-	5	875	c.617G>T	c.(616-618)aGa>aTa	p.R206I	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000355533.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000292841.5_Missense_Mutation_p.R151I			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTATGAATTCTCTGATGCCT	0.388																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(616-618)aGa>aTa		zinc finger protein 585A							100.0	95.0	97.0					19																	37644184		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644184C>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.617G>T	19.37:g.37644184C>A	ENSP00000349440:p.Arg206Ile					ZNF585A_ENST00000292841.5_Missense_Mutation_p.R151I|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000355533.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000588723.1_Intron	p.R206I			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	875	-			206					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.617G>T		.	.	.	.	.	.	.	.	.	.	C	12.00	1.807843	0.31961	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	2.88	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001015	T	0.48314	0.1493	M	0.73962	2.25	0.47949	D	0.999553	D	0.89917	1.0	D	0.81914	0.995	T	0.53556	-0.8422	10	0.54805	T	0.06	.	12.9538	0.58415	0.0:1.0:0.0:0.0	.	206	Q6P3V2	Z585A_HUMAN	I	206;151;151;151	ENSP00000349440:R206I;ENSP00000292841:R151I;ENSP00000375998:R151I;ENSP00000347724:R151I	ENSP00000292841:R151I	R	-	2	0	ZNF585A	42336024	0.000000	0.05858	0.988000	0.46212	0.141000	0.21300	0.567000	0.23608	1.612000	0.50221	0.561000	0.74099	AGA		0.388	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		23	54	1	0	5.26018e-13	1	6.70247e-13	23	54				
HECTD1	25831	broad.mit.edu	37	14	31637631	31637631	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31637631C>A	ENST00000399332.1	-	10	1983	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	HECTD1_ENST00000553700.1_Missense_Mutation_p.D499Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	499					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGTTTGTATCTTTCTTTTTC	0.328																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(1495-1497)Gat>Tat		HECT domain containing E3 ubiquitin protein ligase 1							230.0	224.0	226.0					14																	31637631		1824	4078	5902	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31637631C>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1495G>T	14.37:g.31637631C>A	ENSP00000382269:p.Asp499Tyr					HECTD1_ENST00000553700.1_Missense_Mutation_p.D499Y	p.D499Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	10	1983	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		499					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.1495G>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583041	0.86748	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.72394	0.95;0.95;-0.65	5.26	5.26	0.73747	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.976;0.999	P;D	0.77557	0.549;0.99	T	0.79329	-0.1848	10	0.72032	D	0.01	-17.664	19.2271	0.93821	0.0:1.0:0.0:0.0	.	499;499	D3DS86;Q9ULT8	.;HECD1_HUMAN	Y	499	ENSP00000450697:D499Y;ENSP00000382269:D499Y;ENSP00000452015:D499Y	ENSP00000261312:D499Y	D	-	1	0	HECTD1	30707382	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.583000	0.82559	2.606000	0.88127	0.467000	0.42956	GAT		0.328	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			44	65	1	0	5.20006e-24	1	7.2863e-24	44	65				
BCKDK	10295	broad.mit.edu	37	16	31122015	31122015	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31122015T>G	ENST00000394951.1	+	9	1272	c.649T>G	c.(649-651)Ttt>Gtt	p.F217V	BCKDK_ENST00000394950.3_Missense_Mutation_p.F217V|BCKDK_ENST00000287507.3_Missense_Mutation_p.F217V|BCKDK_ENST00000219794.6_Missense_Mutation_p.F217V|AC135050.1_ENST00000517000.2_RNA			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	217	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						CCAGCCTGACTTTGTCGGCAT	0.577																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(649-651)Ttt>Gtt		branched chain ketoacid dehydrogenase kinase							125.0	126.0	126.0					16																	31122015		2197	4300	6497	SO:0001583	missense	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31122015T>G	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.649T>G	16.37:g.31122015T>G	ENSP00000378405:p.Phe217Val					BCKDK_ENST00000394950.3_Missense_Mutation_p.F217V|BCKDK_ENST00000219794.6_Missense_Mutation_p.F217V|BCKDK_ENST00000287507.3_Missense_Mutation_p.F217V	p.F217V			O14874	BCKD_HUMAN			9	1272	+			217			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.649T>G	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967730	0.53507	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.52	4.52	0.55395	ATPase-like, ATP-binding domain (1);Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.051139	0.85682	D	0.000000	T	0.27098	0.0664	L	0.42008	1.315	0.80722	D	1	P;P	0.38677	0.642;0.642	B;B	0.36808	0.233;0.233	T	0.07102	-1.0790	10	0.46703	T	0.11	-18.8566	13.2787	0.60202	0.0:0.0:0.0:1.0	.	217;217	Q96G95;O14874	.;BCKD_HUMAN	V	217	ENSP00000378405:F217V;ENSP00000219794:F217V;ENSP00000378404:F217V;ENSP00000287507:F217V	ENSP00000219794:F217V	F	+	1	0	BCKDK	31029516	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.750000	0.74888	2.026000	0.59711	0.533000	0.62120	TTT		0.577	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		7	135	0	0	0	1	0	7	135				
MAK	4117	broad.mit.edu	37	6	10819165	10819165	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10819165C>A	ENST00000313243.2	-	3	492	c.110G>T	c.(109-111)aGa>aTa	p.R37I	MAK_ENST00000474039.1_Missense_Mutation_p.R37I|MAK_ENST00000538030.1_Missense_Mutation_p.R37I|MAK_ENST00000536370.1_Missense_Mutation_p.R37I|MAK_ENST00000354489.2_Missense_Mutation_p.R37I|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ATAGAACTTTCTCTTCATCCT	0.378																																						ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(109-111)aGa>aTa		male germ cell-associated kinase							116.0	106.0	110.0					6																	10819165		2202	4299	6501	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10819165C>A		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.110G>T	6.37:g.10819165C>A	ENSP00000313021:p.Arg37Ile					MAK_ENST00000536370.1_Missense_Mutation_p.R37I|MAK_ENST00000474039.1_Missense_Mutation_p.R37I|MAK_ENST00000354489.2_Missense_Mutation_p.R37I|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Missense_Mutation_p.R37I|RP11-637O19.3_ENST00000480294.1_Intron	p.R37I			P20794	MAK_HUMAN			3	492	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	37			Protein kinase.		F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.110G>T	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904934	0.92035	.	.	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030;ENST00000536370	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.087082	0.85682	D	0.000000	T	0.60366	0.2263	N	0.20401	0.57	0.80722	D	1	D	0.58970	0.984	D	0.65010	0.931	T	0.68187	-0.5475	10	0.72032	D	0.01	.	18.6683	0.91501	0.0:1.0:0.0:0.0	.	37	P20794	MAK_HUMAN	I	37	ENSP00000313021:R37I;ENSP00000346484:R37I;ENSP00000442250:R37I;ENSP00000442221:R37I	ENSP00000313021:R37I	R	-	2	0	MAK	10927151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.243000	0.78219	2.413000	0.81919	0.655000	0.94253	AGA		0.378	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		7	4	1	0	0.000157383	1	0.000169016	7	4				
TTC39C	125488	broad.mit.edu	37	18	21644103	21644103	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21644103G>T	ENST00000317571.3	+	2	403		c.e2-1		TTC39C_ENST00000578150.1_Splice_Site|TTC39C_ENST00000304621.6_Splice_Site	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C											breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTTTTTAACAGAAATCATAGC	0.294																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.e2-1		tetratricopeptide repeat domain 39C							138.0	140.0	140.0					18																	21644103		2203	4300	6503	SO:0001630	splice_region_variant	125488						binding	g.chr18:21644103G>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.168-1G>T	18.37:g.21644103G>T						TTC39C_ENST00000578150.1_Splice_Site|TTC39C_ENST00000304621.6_Splice_Site		NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			2	403	+								B7WP63|J3QRR1|Q0VAJ2|Q8N284	Splice_Site	SNP	ENST00000317571.3	37		CCDS45839.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515640	0.85389	.	.	ENSG00000168234	ENST00000317571	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3708	0.94484	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC39C	19898101	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.368000	0.97152	2.580000	0.87095	0.650000	0.86243	.		0.294	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211	Intron	22	30	1	0	3.08376e-08	1	3.62155e-08	22	30				
ZDBF2	57683	broad.mit.edu	37	2	207174556	207174556	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207174556G>T	ENST00000374423.3	+	5	5690	c.5304G>T	c.(5302-5304)aaG>aaT	p.K1768N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1768							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAACTGTTAAGAAAAGACACC	0.423																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5302-5304)aaG>aaT		zinc finger, DBF-type containing 2							55.0	55.0	55.0					2																	207174556		1872	4102	5974	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207174556G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5304G>T	2.37:g.207174556G>T	ENSP00000363545:p.Lys1768Asn						p.K1768N	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	5690	+			1768					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5304G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	7.909	0.736171	0.15574	.	.	ENSG00000204186	ENST00000374423	T	0.55760	0.5	5.01	-0.0674	0.13760	.	.	.	.	.	T	0.24851	0.0603	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17623	-1.0363	9	0.16420	T	0.52	.	2.485	0.04596	0.1694:0.1176:0.4685:0.2445	.	1768	Q9HCK1	ZDBF2_HUMAN	N	1768	ENSP00000363545:K1768N	ENSP00000363545:K1768N	K	+	3	2	ZDBF2	206882801	0.016000	0.18221	0.000000	0.03702	0.373000	0.29922	0.146000	0.16180	0.129000	0.18514	-0.271000	0.10264	AAG		0.423	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		11	22	1	0	0.000978159	1	0.00102903	11	22				
RNF32	140545	broad.mit.edu	37	7	156451252	156451252	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:156451252C>A	ENST00000405335.1	+	8	1081	c.672C>A	c.(670-672)ttC>ttA	p.F224L	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000311822.8_Missense_Mutation_p.F224L|RNF32_ENST00000392741.2_Missense_Mutation_p.F224L|RNF32_ENST00000317955.5_Missense_Mutation_p.F224L|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000343665.4_Missense_Mutation_p.F200L|RNF32_ENST00000392743.2_Missense_Mutation_p.F224L|RNF32_ENST00000432459.2_Missense_Mutation_p.F224L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	224						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAAAAAATTCTTTGAAAAAA	0.423																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(670-672)ttC>ttA		ring finger protein 32							75.0	79.0	78.0					7																	156451252		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156451252C>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.672C>A	7.37:g.156451252C>A	ENSP00000385285:p.Phe224Leu					RNF32_ENST00000405335.1_Missense_Mutation_p.F224L|RNF32_ENST00000343665.4_Missense_Mutation_p.F200L|RNF32_ENST00000392743.2_Missense_Mutation_p.F224L|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.F224L|RNF32_ENST00000311822.8_Missense_Mutation_p.F224L|RNF32_ENST00000432459.2_Missense_Mutation_p.F224L	p.F224L			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	6	760	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	224					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.672C>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862689	0.71949	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	T;T;T;T;T;T;T	0.56275	2.04;2.04;2.04;1.51;2.04;0.47;1.83	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	M	0.82056	2.57	0.80722	D	1	D;P;D	0.89917	1.0;0.61;0.997	D;B;P	0.85130	0.997;0.258;0.856	T	0.72620	-0.4238	9	.	.	.	-28.7867	9.3494	0.38129	0.1453:0.7771:0.0:0.0776	.	224;224;224	Q9H0A6-4;G5E940;Q9H0A6	.;.;RNF32_HUMAN	L	224;224;224;224;224;224;200	ENSP00000405588:F224L;ENSP00000315950:F224L;ENSP00000385285:F224L;ENSP00000308894:F224L;ENSP00000376499:F224L;ENSP00000376497:F224L;ENSP00000341185:F200L	.	F	+	3	2	RNF32	156144013	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	1.286000	0.33273	2.369000	0.80426	0.650000	0.86243	TTC		0.423	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		14	25	1	0	3.27435e-08	1	3.83577e-08	14	25				
ME2	4200	broad.mit.edu	37	18	48446854	48446854	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:48446854G>A	ENST00000321341.5	+	8	1035	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ME2_ENST00000382927.3_Missense_Mutation_p.E255K	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	255					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CATTCAGTTCGAAGACTTTGG	0.338																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(763-765)Gaa>Aaa		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						82.0	79.0	80.0					18																	48446854		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48446854G>A	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.763G>A	18.37:g.48446854G>A	ENSP00000321070:p.Glu255Lys					ME2_ENST00000382927.3_Missense_Mutation_p.E255K	p.E255K	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	8	1035	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	255					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.763G>A	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792285	0.70452	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.69926	-0.44;-0.44	5.75	4.88	0.63580	Malic enzyme, N-terminal (2);	0.093379	0.64402	D	0.000001	D	0.84817	0.5556	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88209	0.2889	10	0.87932	D	0	-32.7179	13.8913	0.63740	0.0746:0.0:0.9254:0.0	.	255;255	Q9BWL6;P23368	.;MAOM_HUMAN	K	255	ENSP00000321070:E255K;ENSP00000372384:E255K	ENSP00000321070:E255K	E	+	1	0	ME2	46700852	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	9.843000	0.99491	1.446000	0.47643	-0.157000	0.13467	GAA		0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		8	23	0	0	0	1	0	8	23				
ABCA5	23461	broad.mit.edu	37	17	67302906	67302906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67302906C>A	ENST00000392676.3	-	6	812	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	ABCA5_ENST00000392677.2_Nonsense_Mutation_p.E250*|ABCA5_ENST00000588877.1_Nonsense_Mutation_p.E250*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	250					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTTAAAAATTCTTTTATTTTT	0.239																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(748-750)Gaa>Taa		ATP-binding cassette, sub-family A (ABC1), member 5							14.0	16.0	15.0					17																	67302906		2119	4222	6341	SO:0001587	stop_gained	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67302906C>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.748G>T	17.37:g.67302906C>A	ENSP00000376443:p.Glu250*					ABCA5_ENST00000392677.2_Nonsense_Mutation_p.E250*|ABCA5_ENST00000588877.1_Nonsense_Mutation_p.E250*	p.E250*			Q8WWZ7	ABCA5_HUMAN			6	812	-	Breast(10;3.72e-11)		250					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Nonsense_Mutation	SNP	ENST00000392676.3	37	c.748G>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	48	14.922770	0.99815	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5867	0.91192	0.0:1.0:0.0:0.0	.	.	.	.	X	250	.	.	E	-	1	0	ABCA5	64814501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.561000	0.73955	2.353000	0.79882	0.655000	0.94253	GAA		0.239	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		7	17	1	0	0.27861	1	0.279356	7	17				
SEMA5B	54437	broad.mit.edu	37	3	122641234	122641234	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122641234C>T	ENST00000357599.3	-	11	1719	c.1333G>A	c.(1333-1335)Gcg>Acg	p.A445T	SEMA5B_ENST00000195173.4_Missense_Mutation_p.A445T|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A499T	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	445	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGCGCTGCGCGTCCTGCAGG	0.701																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1333-1335)Gcg>Acg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							28.0	28.0	28.0					3																	122641234		2203	4299	6502	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122641234C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1333G>A	3.37:g.122641234C>T	ENSP00000350215:p.Ala445Thr					SEMA5B_ENST00000357599.3_Missense_Mutation_p.A445T|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A499T	p.A445T			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	11	1636	-			445			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1333G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560637	0.96527	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	M	0.77486	2.375	0.80722	D	1	P;D;D	0.54047	0.732;0.964;0.964	B;P;P	0.48921	0.366;0.595;0.595	T	0.02774	-1.1112	10	0.52906	T	0.07	.	18.0865	0.89458	0.0:1.0:0.0:0.0	.	387;445;445	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	T	445;445;387;499;445	ENSP00000350215:A445T;ENSP00000195173:A445T;ENSP00000389588:A499T;ENSP00000377208:A445T	ENSP00000195173:A445T	A	-	1	0	SEMA5B	124123924	1.000000	0.71417	0.283000	0.24790	0.976000	0.68499	7.600000	0.82769	2.759000	0.94783	0.591000	0.81541	GCG		0.701	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		8	12	0	0	0	1	0	8	12				
USP34	9736	broad.mit.edu	37	2	61575414	61575414	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61575414C>A	ENST00000398571.2	-	15	1952	c.1876G>T	c.(1876-1878)Gac>Tac	p.D626Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	626					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATCATCGTCTTCATCTTCC	0.488																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(1876-1878)Gac>Tac		ubiquitin specific peptidase 34							77.0	76.0	76.0					2																	61575414		2027	4186	6213	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575414C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1876G>T	2.37:g.61575414C>A	ENSP00000381577:p.Asp626Tyr						p.D626Y	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	1952	-			626					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1876G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357680	0.41801	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.50277	0.75	5.92	5.92	0.95590	.	0.161857	0.51477	D	0.000087	T	0.37293	0.0998	N	0.08118	0	0.58432	D	0.999999	P	0.35844	0.524	B	0.39617	0.305	T	0.40156	-0.9578	10	0.62326	D	0.03	.	20.3213	0.98679	0.0:1.0:0.0:0.0	.	626	Q70CQ2	UBP34_HUMAN	Y	474;474;626	ENSP00000381577:D626Y	ENSP00000263989:D474Y	D	-	1	0	USP34	61428918	1.000000	0.71417	0.978000	0.43139	0.069000	0.16628	5.577000	0.67444	2.810000	0.96702	0.650000	0.86243	GAC		0.488	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			22	37	1	0	4.35082e-09	1	5.20082e-09	22	37				
RGAG1	57529	broad.mit.edu	37	X	109695280	109695280	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109695280G>T	ENST00000465301.2	+	3	1681	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C	RGAG1_ENST00000540313.1_Missense_Mutation_p.G479C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	479										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATGCCCACAGGCTCTATGAA	0.507																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1435-1437)Ggc>Tgc		retrotransposon gag domain containing 1							131.0	119.0	123.0					X																	109695280		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695280G>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1435G>T	X.37:g.109695280G>T	ENSP00000419786:p.Gly479Cys					RGAG1_ENST00000540313.1_Missense_Mutation_p.G479C	p.G479C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1681	+			479					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1435G>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907499	0.33721	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.74315	-0.83;-0.83	3.81	1.05	0.20165	.	0.478255	0.15658	N	0.251026	T	0.75496	0.3857	L	0.39898	1.24	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.61912	-0.6965	9	.	.	.	-0.6677	5.0136	0.14324	0.2171:0.1729:0.61:0.0	.	479	Q8NET4	RGAG1_HUMAN	C	479	ENSP00000419786:G479C;ENSP00000441452:G479C	.	G	+	1	0	RGAG1	109581936	0.133000	0.22466	0.002000	0.10522	0.005000	0.04900	1.263000	0.33004	0.086000	0.17137	-0.279000	0.10071	GGC		0.507	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		15	311	1	0	2.61681e-11	1	3.25035e-11	15	311				
N4BP2L2	10443	broad.mit.edu	37	13	33110531	33110531	+	Missense_Mutation	SNP	T	T	G	rs373675561		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33110531T>G	ENST00000267068.3	-	2	798	c.634A>C	c.(634-636)Aat>Cat	p.N212H	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N212H|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	212					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAGAGACCATTATTATGACCC	0.348																																						ENST00000267068.3																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(634-636)Aat>Cat		NEDD4 binding protein 2-like 2							70.0	71.0	71.0					13																	33110531		2203	4299	6502	SO:0001583	missense	10443							g.chr13:33110531T>G	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.634A>C	13.37:g.33110531T>G	ENSP00000267068:p.Asn212His					N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N212H|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	p.N212H	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	798	-		Lung SC(185;0.0262)	212					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.634A>C	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506924	0.26949	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.43688	0.94;0.94;0.94	5.58	5.58	0.84498	.	.	.	.	.	T	0.52370	0.1730	L	0.59436	1.845	0.25816	N	0.984348	D;P	0.61080	0.989;0.93	P;P	0.55667	0.781;0.533	T	0.47812	-0.9088	9	0.36615	T	0.2	-0.8003	11.5685	0.50820	0.0:0.0:0.1598:0.8402	.	212;212	D6R968;Q92802	.;N42L2_HUMAN	H	212	ENSP00000394239:N212H;ENSP00000423362:N212H;ENSP00000267068:N212H	ENSP00000267068:N212H	N	-	1	0	N4BP2L2	32008531	0.000000	0.05858	0.019000	0.16419	0.758000	0.43043	0.518000	0.22847	2.134000	0.65973	0.460000	0.39030	AAT		0.348	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		19	39	0	0	0	1	0	19	39				
NAA16	79612	broad.mit.edu	37	13	41943339	41943339	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41943339A>C	ENST00000379406.3	+	15	2191	c.1867A>C	c.(1867-1869)Aat>Cat	p.N623H	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	623					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						tcaacagaaaaatcaaaagaa	0.358																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1867-1869)Aat>Cat		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							67.0	71.0	70.0					13																	41943339		2203	4299	6502	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41943339A>C	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1867A>C	13.37:g.41943339A>C	ENSP00000368716:p.Asn623His					NAA16_ENST00000497143.1_3'UTR	p.N623H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			15	2191	+			623					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.1867A>C	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.014117	0.54468	.	.	ENSG00000172766	ENST00000379406	T	0.42131	0.98	5.38	5.38	0.77491	.	0.481278	0.22244	N	0.062641	T	0.34513	0.0900	L	0.33753	1.03	0.80722	D	1	B	0.11235	0.004	B	0.17979	0.02	T	0.08576	-1.0715	10	0.26408	T	0.33	-3.8531	15.3785	0.74633	1.0:0.0:0.0:0.0	.	623	Q6N069	NAA16_HUMAN	H	623	ENSP00000368716:N623H	ENSP00000368716:N623H	N	+	1	0	NAA16	40841339	1.000000	0.71417	0.943000	0.38184	0.955000	0.61496	6.369000	0.73109	2.032000	0.59987	0.533000	0.62120	AAT		0.358	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		20	27	0	0	0	1	0	20	27				
HEPACAM2	253012	broad.mit.edu	37	7	92838084	92838084	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92838084G>T	ENST00000394468.2	-	4	898	c.821C>A	c.(820-822)tCt>tAt	p.S274Y	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S262Y|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S297Y|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S262Y	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	274	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGGGGGATGAGAATCAGCAGA	0.438																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(820-822)tCt>tAt		HEPACAM family member 2							143.0	137.0	139.0					7																	92838084		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92838084G>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.821C>A	7.37:g.92838084G>T	ENSP00000377980:p.Ser274Tyr					HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S262Y|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S262Y|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S297Y	p.S274Y	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			4	898	-			274			Ig-like C2-type 2.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.821C>A	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464947	0.84425	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.23	5.23	0.72850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84224	0.5425	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	D	0.85384	0.1121	10	0.87932	D	0	-20.0171	19.6959	0.96026	0.0:0.0:1.0:0.0	.	297;262;274;262	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	Y	274;262;262;297	ENSP00000377980:S274Y;ENSP00000340532:S262Y;ENSP00000389592:S262Y;ENSP00000390204:S297Y	ENSP00000340532:S262Y	S	-	2	0	HEPACAM2	92676020	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.610000	0.90902	2.826000	0.97356	0.655000	0.94253	TCT		0.438	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		6	68	1	0	3.59834e-05	1	3.93264e-05	6	68				
LY6G6F	259215	broad.mit.edu	37	6	31678182	31678182	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:31678182T>C	ENST00000375832.4	+	5	878	c.856T>C	c.(856-858)Ttg>Ctg	p.L286L	LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GAACATCCATTTGGCCCGTCT	0.542																																						ENST00000375832.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						c.(856-858)Ttg>Ctg		lymphocyte antigen 6 complex, locus G6F							211.0	233.0	225.0					6																	31678182		1511	2709	4220	SO:0001819	synonymous_variant	259215					integral to membrane|plasma membrane		g.chr6:31678182T>C		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.856T>C	6.37:g.31678182T>C						XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron	p.L286L	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN			5	878	+			286					B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Silent	SNP	ENST00000375832.4	37	c.856T>C	CCDS34403.1																																																																																				0.542	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		169	56	0	0	0	1	0	169	56				
SCN7A	6332	broad.mit.edu	37	2	167284347	167284347	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167284347C>A	ENST00000409855.1	-	17	2930	c.2804G>T	c.(2803-2805)tGg>tTg	p.W935L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	935					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACACTTAAACCAATTGTTCTC	0.448																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2803-2805)tGg>tTg		sodium channel, voltage-gated, type VII, alpha subunit							128.0	122.0	124.0					2																	167284347		1890	4118	6008	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167284347C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2804G>T	2.37:g.167284347C>A	ENSP00000386796:p.Trp935Leu						p.W935L	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			17	2930	-			935						Missense_Mutation	SNP	ENST00000409855.1	37	c.2804G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770815	0.31320	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.88896	-2.44	5.02	-0.369	0.12534	Sodium ion transport-associated (1);	0.509186	0.18350	N	0.143911	D	0.88328	0.6407	M	0.83953	2.67	0.34574	D	0.713775	B	0.31125	0.309	B	0.28232	0.087	D	0.87058	0.2151	10	0.87932	D	0	.	14.3515	0.66705	0.6335:0.3665:0.0:0.0	.	935	Q01118	SCN7A_HUMAN	L	935	ENSP00000386796:W935L	ENSP00000259060:W935L	W	-	2	0	SCN7A	166992593	0.997000	0.39634	0.356000	0.25785	0.416000	0.31233	1.237000	0.32695	-0.168000	0.10853	0.591000	0.81541	TGG		0.448	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			16	17	1	0	2.23348e-06	1	2.50077e-06	16	17				
ADCY2	108	broad.mit.edu	37	5	7784477	7784477	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7784477G>T	ENST00000338316.4	+	19	2473		c.e19-1		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						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						TTTTTTAATAGACCAGGCATT	0.393																																						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.e19-1		adenylate cyclase 2 (brain)							158.0	144.0	149.0					5																	7784477		2203	4300	6503	SO:0001630	splice_region_variant	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.chr5:7784477G>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.2385-1G>T	5.37:g.7784477G>T						ADCY2_ENST00000537121.1_Splice_Site		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			19	2473	+								B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Splice_Site	SNP	ENST00000338316.4	37		CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490925	0.64074	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	.	.	.	5.67	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8757	0.86051	0.0:0.1283:0.8717:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCY2	7837477	1.000000	0.71417	0.988000	0.46212	0.881000	0.50899	7.398000	0.79919	1.397000	0.46682	-0.195000	0.12781	.		0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	Intron	9	23	1	0	3.09899e-07	1	3.54467e-07	9	23				
SLC12A5	57468	broad.mit.edu	37	20	44671793	44671793	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44671793G>T	ENST00000454036.2	+	9	1186	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D	SLC12A5_ENST00000243964.3_Splice_Site_p.E356D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	379					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCCACAGAGAACCTCTGGA	0.607																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.e9-1		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						124.0	119.0	121.0					20																	44671793		2203	4300	6503	SO:0001630	splice_region_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671793G>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1136-1G>T	20.37:g.44671793G>T						SLC12A5_ENST00000243964.3_Splice_Site_p.E356_splice|SLC12A5_ENST00000539566.1_Intron	p.E379_splice	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			9	1213	+		Myeloproliferative disorder(115;0.0122)	379					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Splice_Site	SNP	ENST00000454036.2	37	c.1135_splice	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	9.797	1.179557	0.21787	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.68765	-0.35;-0.35	4.47	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	N	0.20845	0.615	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.28396	-1.0045	10	0.11794	T	0.64	.	7.4351	0.27150	0.0896:0.0:0.7415:0.1689	.	379;356	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	D	379;356	ENSP00000387694:E379D;ENSP00000243964:E356D	ENSP00000243964:E356D	E	+	3	2	SLC12A5	44105200	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.587000	0.36622	2.470000	0.83445	0.462000	0.41574	GAG		0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		Missense_Mutation	7	217	1	0	0.248553	1	0.24944	7	217				
PIK3C2A	5286	broad.mit.edu	37	11	17141460	17141460	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17141460T>C	ENST00000265970.7	-	15	2718	c.2719A>G	c.(2719-2721)Aat>Gat	p.N907D	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N527D|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	907	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GGAAGACAATTTGGGTGTTTG	0.353																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2719-2721)Aat>Gat		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						101.0	104.0	103.0					11																	17141460		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17141460T>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2719A>G	11.37:g.17141460T>C	ENSP00000265970:p.Asn907Asp					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N527D|PIK3C2A_ENST00000531428.1_Intron	p.N907D	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			15	2718	-			907					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2719A>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.875952	0.51695	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.62941	-0.01;-0.01	5.28	4.14	0.48551	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.220871	0.45361	D	0.000364	T	0.52741	0.1753	L	0.35644	1.08	0.48236	D	0.999611	P	0.43231	0.801	B	0.43990	0.438	T	0.41288	-0.9517	10	0.19590	T	0.45	-14.0746	10.9425	0.47281	0.0:0.0741:0.0:0.9259	.	907	O00443	P3C2A_HUMAN	D	907;527	ENSP00000265970:N907D;ENSP00000438687:N527D	ENSP00000265970:N907D	N	-	1	0	PIK3C2A	17098036	1.000000	0.71417	0.999000	0.59377	0.594000	0.36715	2.493000	0.45320	0.844000	0.35094	0.477000	0.44152	AAT		0.353	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		22	40	0	0	0	1	0	22	40				
MED13L	23389	broad.mit.edu	37	12	116408498	116408498	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116408498C>A	ENST00000281928.3	-	27	6174	c.5968G>T	c.(5968-5970)Gat>Tat	p.D1990Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1990						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAAGAAGCATCTTGAGGGGTG	0.453																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5968-5970)Gat>Tat		mediator complex subunit 13-like							183.0	150.0	161.0					12																	116408498		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116408498C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5968G>T	12.37:g.116408498C>A	ENSP00000281928:p.Asp1990Tyr						p.D1990Y	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	27	6174	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1990					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5968G>T	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.149061|5.149061	0.94645|0.94645	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000281928|ENST00000552447	D|.	0.83755|.	-1.76|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83543|0.83543	0.5277|0.5277	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.84168|0.84168	0.0432|0.0432	10|5	0.87932|.	D|.	0|.	.|.	19.6941|19.6941	0.96016|0.96016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1990|.	Q71F56|.	MD13L_HUMAN|.	Y|I	1990|194	ENSP00000281928:D1990Y|.	ENSP00000281928:D1990Y|.	D|R	-|-	1|2	0|0	MED13L|MED13L	114892881|114892881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.320000|7.320000	0.79064|0.79064	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			27	37	1	0	1.03073e-24	1	1.44895e-24	27	37				
GCKR	2646	broad.mit.edu	37	2	27728635	27728635	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27728635G>T	ENST00000264717.2	+	10	864	c.801G>T	c.(799-801)aaG>aaT	p.K267N	GCKR_ENST00000424318.2_Missense_Mutation_p.K77N	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	267	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTGCCACCAAGATTCTGCTGG	0.542																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(799-801)aaG>aaT		glucokinase (hexokinase 4) regulator							99.0	90.0	93.0					2																	27728635		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728635G>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.801G>T	2.37:g.27728635G>T	ENSP00000264717:p.Lys267Asn					GCKR_ENST00000424318.2_Missense_Mutation_p.K77N	p.K267N	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			10	864	+	Acute lymphoblastic leukemia(172;0.155)		267			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.801G>T	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664640	0.47572	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	D;T	0.84442	-1.85;-0.11	3.88	2.99	0.34606	Glucokinase regulatory, conserved site (1);Sugar isomerase (SIS) (1);	0.144429	0.44483	N	0.000454	D	0.89118	0.6624	M	0.80422	2.495	0.32346	N	0.559159	P;P;P	0.51240	0.933;0.916;0.943	P;P;P	0.54100	0.557;0.455;0.742	D	0.91020	0.4856	10	0.87932	D	0	-7.4494	11.3723	0.49707	0.0:0.1855:0.8145:0.0	.	77;267;267	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	N	267;77	ENSP00000264717:K267N;ENSP00000409109:K77N	ENSP00000264717:K267N	K	+	3	2	GCKR	27582139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.485000	0.35519	0.958000	0.37956	0.655000	0.94253	AAG		0.542	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		34	67	1	0	9.78485e-24	1	1.37003e-23	34	67				
CYP4F12	66002	broad.mit.edu	37	19	15795927	15795927	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15795927G>A	ENST00000550308.1	+	9	1415	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A	CYP4F12_ENST00000324632.10_Silent_p.A345A	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	345					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ACAACCTTGCGAGGCACCCAG	0.592																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(1033-1035)gcG>gcA		cytochrome P450, family 4, subfamily F, polypeptide 12							57.0	54.0	55.0					19																	15795927		2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15795927G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1035G>A	19.37:g.15795927G>A						CYP4F12_ENST00000324632.9_Silent_p.A345A	p.A345A	NM_023944.3	NP_076433.3					9	1415	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.1035G>A	CCDS42517.1																																																																																				0.592	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			22	36	0	0	0	1	0	22	36				
GRM7	2917	broad.mit.edu	37	3	7620981	7620981	+	Silent	SNP	G	G	A	rs117160055	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:7620981G>A	ENST00000357716.4	+	8	2662	c.2388G>A	c.(2386-2388)acG>acA	p.T796T	GRM7_ENST00000486284.1_Silent_p.T796T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.T796T|GRM7_ENST00000403881.1_Silent_p.T796T|GRM7_ENST00000402647.2_Silent_p.T796T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	796					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CTATGTACACGACATGTATAG	0.403													G|||	11	0.00219649	0.0008	0.0	5008	,	,		19856	0.0099		0.0	False		,,,				2504	0.0					ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2386-2388)acG>acA		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)	G	,	2,4404	4.2+/-10.8	0,2,2201	58.0	56.0	57.0		2388,2388	-6.0	0.5	3	dbSNP_133	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRM7	NM_000844.3,NM_181874.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	796/916,796/923	7620981	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620981G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2388G>A	3.37:g.7620981G>A						GRM7_ENST00000402647.2_Silent_p.T796T|GRM7_ENST00000357716.4_Silent_p.T796T|GRM7_ENST00000403881.1_Silent_p.T796T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.T796T	p.T796T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2662	+			796					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.2388G>A	CCDS43042.1																																																																																				0.403	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		15	20	0	0	0	1	0	15	20				
KDM1A	23028	broad.mit.edu	37	1	23408000	23408000	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23408000C>T	ENST00000356634.3	+	17	2309	c.2160C>T	c.(2158-2160)gaC>gaT	p.D720D	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.D744D|KDM1A_ENST00000400181.4_Silent_p.D744D	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	720	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACATAAGTGACGATGTGATTG	0.483																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(2230-2232)gaC>gaT		lysine (K)-specific demethylase 1A							129.0	117.0	121.0					1																	23408000		2203	4300	6503	SO:0001819	synonymous_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23408000C>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2160C>T	1.37:g.23408000C>T						KDM1A_ENST00000356634.3_Silent_p.D720D|KDM1A_ENST00000542151.1_Silent_p.D744D|RP1-184J9.2_ENST00000427154.1_RNA	p.D744D	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			19	2336	+			720			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.2232C>T	CCDS30627.1																																																																																				0.483	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		31	43	0	0	0	1	0	31	43				
FLG	2312	broad.mit.edu	37	1	152275493	152275493	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152275493G>T	ENST00000368799.1	-	3	11904	c.11869C>A	c.(11869-11871)Cat>Aat	p.H3957N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3957					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGATAATGATAAGAACTA	0.428									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11869-11871)Cat>Aat		filaggrin							144.0	134.0	137.0					1																	152275493		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275493G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11869C>A	1.37:g.152275493G>T	ENSP00000357789:p.His3957Asn					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H3957N	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11904	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3957					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11869C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	0.289	-0.981210	0.02197	.	.	ENSG00000143631	ENST00000368799	T	0.01159	5.25	3.05	-6.1	0.02138	.	.	.	.	.	T	0.00109	0.0003	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	9	0.14656	T	0.56	.	2.2533	0.04049	0.2143:0.2043:0.4389:0.1426	.	3957	P20930	FILA_HUMAN	N	3957	ENSP00000357789:H3957N	ENSP00000357789:H3957N	H	-	1	0	FLG	150542117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.971000	0.03806	-3.162000	0.00227	-2.207000	0.00302	CAT		0.428	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		38	50	1	0	6.70999e-13	1	8.51699e-13	38	50				
USP29	57663	broad.mit.edu	37	19	57642424	57642424	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57642424A>G	ENST00000254181.4	+	4	2835	c.2381A>G	c.(2380-2382)aAc>aGc	p.N794S	USP29_ENST00000598197.1_Missense_Mutation_p.N794S|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	794	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACCCAGGAAACAAAAACATT	0.458																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2380-2382)aAc>aGc		ubiquitin specific peptidase 29							53.0	46.0	48.0					19																	57642424		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642424A>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2381A>G	19.37:g.57642424A>G	ENSP00000254181:p.Asn794Ser					USP29_ENST00000598197.1_Missense_Mutation_p.N794S	p.N794S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2835	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	794						Missense_Mutation	SNP	ENST00000254181.4	37	c.2381A>G	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	A	8.783	0.928761	0.18131	.	.	ENSG00000131864	ENST00000254181	T	0.73575	-0.76	1.4	1.4	0.22301	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.65354	0.2683	L	0.49126	1.545	0.09310	N	1	P	0.43578	0.811	B	0.40825	0.341	T	0.58618	-0.7605	9	0.72032	D	0.01	-8.1845	4.9404	0.13963	1.0:0.0:0.0:0.0	.	794	Q9HBJ7	UBP29_HUMAN	S	794	ENSP00000254181:N794S	ENSP00000254181:N794S	N	+	2	0	USP29	62334236	0.999000	0.42202	0.006000	0.13384	0.005000	0.04900	0.434000	0.21494	0.877000	0.35895	0.383000	0.25322	AAC		0.458	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			5	37	0	0	0	1	0	5	37				
RAD51B	5890	broad.mit.edu	37	14	68353863	68353863	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:68353863A>C	ENST00000487270.1	+	7	746	c.698A>C	c.(697-699)aAg>aCg	p.K233T	RAD51B_ENST00000488612.1_Missense_Mutation_p.K233T|RAD51B_ENST00000390683.3_Missense_Mutation_p.K233T|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Missense_Mutation_p.K233T|RAD51B_ENST00000471583.1_Missense_Mutation_p.K233T	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	233					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAAAGAAACAAGTTCTTGGCA	0.363								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(697-699)aAg>aCg	Direct reversal of damage	RAD51 paralog B							87.0	91.0	89.0					14																	68353863		2203	4300	6503	SO:0001583	missense	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68353863A>C	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.698A>C	14.37:g.68353863A>C	ENSP00000419471:p.Lys233Thr					RAD51B_ENST00000488612.1_Missense_Mutation_p.K233T|RAD51B_ENST00000487861.1_Missense_Mutation_p.K233T|RAD51B_ENST00000390683.3_Missense_Mutation_p.K233T|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000471583.1_Missense_Mutation_p.K233T	p.K233T	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN			7	746	+			233					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	ENST00000487270.1	37	c.698A>C	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345837	0.41599	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.9	4.76	0.60689	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.066229	0.56097	D	0.000027	T	0.42471	0.1204	N	0.05554	-0.025	0.31739	N	0.635986	P;P;B;B;B;B	0.36282	0.458;0.546;0.191;0.356;0.191;0.01	B;B;B;B;B;B	0.39562	0.303;0.229;0.095;0.161;0.095;0.037	T	0.50372	-0.8836	10	0.27082	T	0.32	-35.9268	10.6241	0.45497	0.9276:0.0:0.0724:0.0	.	233;233;233;233;233;233	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	T	233	ENSP00000419881:K233T;ENSP00000418859:K233T;ENSP00000419471:K233T;ENSP00000420061:K233T;ENSP00000375101:K233T	ENSP00000343531:K233T	K	+	2	0	RAD51B	67423616	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.131000	0.64751	1.069000	0.40788	-0.263000	0.10527	AAG		0.363	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			18	30	0	0	0	1	0	18	30				
POF1B	79983	broad.mit.edu	37	X	84563198	84563198	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:84563198G>A	ENST00000262753.4	-	10	1127	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	POF1B_ENST00000373145.3_Missense_Mutation_p.L328F	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	328						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTAGTCGGAGTGACTTATCA	0.338																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(982-984)Ctc>Ttc		premature ovarian failure, 1B							92.0	79.0	83.0					X																	84563198		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84563198G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.982C>T	X.37:g.84563198G>A	ENSP00000262753:p.Leu328Phe					POF1B_ENST00000373145.3_Missense_Mutation_p.L328F	p.L328F	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			10	1127	-			328					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.982C>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835319	0.71373	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	T;T	0.12672	2.67;2.66	5.86	5.86	0.93980	.	0.142496	0.64402	D	0.000017	T	0.19765	0.0475	L	0.43152	1.355	0.35146	D	0.769294	D;D	0.53885	0.963;0.963	P;P	0.49922	0.626;0.626	T	0.11397	-1.0589	10	0.59425	D	0.04	-4.1786	12.8266	0.57723	0.0:0.0:0.8368:0.1632	.	328;328	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	F	328	ENSP00000262753:L328F;ENSP00000362238:L328F	ENSP00000262753:L328F	L	-	1	0	POF1B	84449854	0.979000	0.34478	0.997000	0.53966	0.969000	0.65631	1.636000	0.37144	2.471000	0.83476	0.600000	0.82982	CTC		0.338	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		11	28	0	0	0	1	0	11	28				
MMRN1	22915	broad.mit.edu	37	4	90857447	90857447	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90857447G>A	ENST00000394980.1	+	7	2935	c.2616G>A	c.(2614-2616)acG>acA	p.T872T	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.T614T|MMRN1_ENST00000264790.2_Silent_p.T872T			Q13201	MMRN1_HUMAN	multimerin 1	872					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTACCCAGACGCTCATACCTT	0.343																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2614-2616)acG>acA		multimerin 1							39.0	42.0	41.0					4																	90857447		2201	4294	6495	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857447G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2616G>A	4.37:g.90857447G>A						MMRN1_ENST00000508372.1_Silent_p.T614T|MMRN1_ENST00000264790.2_Silent_p.T872T|MMRN1_ENST00000394981.1_Intron	p.T872T			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2935	+		Hepatocellular(203;0.114)	872					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.2616G>A	CCDS3635.1																																																																																				0.343	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		10	17	0	0	0	1	0	10	17				
HELLS	3070	broad.mit.edu	37	10	96354558	96354558	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96354558T>G	ENST00000348459.5	+	19	2300	c.2195T>G	c.(2194-2196)aTt>aGt	p.I732S	RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.I778S|HELLS_ENST00000394045.1_Missense_Mutation_p.I634S|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATCAGAAAATTGTGGAAAGA	0.373																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(2194-2196)aTt>aGt		helicase, lymphoid-specific							109.0	99.0	103.0					10																	96354558		2203	4300	6503	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96354558T>G	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2195T>G	10.37:g.96354558T>G	ENSP00000239027:p.Ile732Ser					HELLS_ENST00000371332.4_Missense_Mutation_p.I778S|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.I634S	p.I732S	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	19	2300	+		Colorectal(252;0.0429)	732			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000348459.5	37	c.2195T>G	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647879	0.87958	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.98	5.98	0.97165	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	M	0.91768	3.24	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.991;0.979;0.994;0.996;0.983	D	0.93387	0.6748	10	0.87932	D	0	-22.7018	15.6593	0.77169	0.0:0.0:0.0:1.0	.	716;703;602;634;732	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	S	732;634;778;169	ENSP00000239027:I732S;ENSP00000377609:I634S;ENSP00000360383:I778S;ENSP00000360378:I169S	ENSP00000239027:I732S	I	+	2	0	HELLS	96344548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.288000	0.76882	0.528000	0.53228	ATT		0.373	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		4	26	0	0	0	1	0	4	26				
FDXR	2232	broad.mit.edu	37	17	72860427	72860427	+	Missense_Mutation	SNP	C	C	T	rs111830964	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72860427C>T	ENST00000293195.5	-	9	923	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	FDXR_ENST00000420580.2_Missense_Mutation_p.R242Q|FDXR_ENST00000582944.1_Missense_Mutation_p.R274Q|FDXR_ENST00000442102.2_Missense_Mutation_p.R325Q|FDXR_ENST00000455107.2_Missense_Mutation_p.R238Q|FDXR_ENST00000544854.1_Missense_Mutation_p.R230Q|FDXR_ENST00000413947.2_Missense_Mutation_p.R313Q|FDXR_ENST00000581530.1_Missense_Mutation_p.R288Q|FDXR_ENST00000583917.1_Missense_Mutation_p.R254Q|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000581969.1_5'Flank	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	282					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TGTGGCCGTTCGAAGCAGCAG	0.687													C|||	7	0.00139776	0.0	0.0	5008	,	,		14056	0.0		0.0	False		,,,				2504	0.0072					ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(712-714)cGa>cAa		ferredoxin reductase							16.0	19.0	18.0					17																	72860427		2145	4190	6335	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860427C>T	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.845G>A	17.37:g.72860427C>T	ENSP00000293195:p.Arg282Gln					FDXR_ENST00000442102.2_Missense_Mutation_p.R325Q|FDXR_ENST00000413947.2_Missense_Mutation_p.R313Q|FDXR_ENST00000544854.1_Missense_Mutation_p.R230Q|FDXR_ENST00000583917.1_Missense_Mutation_p.R254Q|FDXR_ENST00000420580.2_Missense_Mutation_p.R242Q|FDXR_ENST00000582944.1_Missense_Mutation_p.R274Q|FDXR_ENST00000293195.5_Missense_Mutation_p.R282Q|FDXR_ENST00000581530.1_Missense_Mutation_p.R288Q	p.R238Q			P22570	ADRO_HUMAN			10	1129	-	all_lung(278;0.172)|Lung NSC(278;0.207)		282					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.713G>A	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349766	0.24426	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	4.38	-0.331	0.12679	.	0.358121	0.28436	N	0.015353	T	0.08626	0.0214	N	0.03999	-0.3	0.36008	D	0.837841	B;B;B;B;B;B;B;B;B;B	0.18610	0.029;0.022;0.02;0.008;0.004;0.002;0.002;0.008;0.002;0.008	B;B;B;B;B;B;B;B;B;B	0.16722	0.003;0.016;0.002;0.001;0.001;0.001;0.0;0.001;0.0;0.001	T	0.17379	-1.0371	10	0.39692	T	0.17	-33.5401	9.3393	0.38069	0.0:0.393:0.0:0.607	.	242;325;313;280;230;313;282;274;282;288	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	Q	242;230;288;238;325;313	ENSP00000414172:R242Q;ENSP00000445432:R230Q;ENSP00000390875:R238Q;ENSP00000416515:R325Q;ENSP00000408595:R313Q	ENSP00000293195:R288Q	R	-	2	0	FDXR	70372022	0.969000	0.33509	0.464000	0.27143	0.038000	0.13279	0.756000	0.26419	-0.029000	0.13827	-0.367000	0.07326	CGA		0.687	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		15	28	0	0	0	1	0	15	28				
CDC7	8317	broad.mit.edu	37	1	91967372	91967372	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91967372G>T	ENST00000428239.1	+	2	358	c.99G>T	c.(97-99)caG>caT	p.Q33H	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.Q33H|CDC7_ENST00000430031.2_Missense_Mutation_p.Q33H	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	33					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AAAACGAGCAGAATTTTAAAC	0.393																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(97-99)caG>caT		cell division cycle 7							72.0	78.0	76.0					1																	91967372		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91967372G>T	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.99G>T	1.37:g.91967372G>T	ENSP00000393139:p.Gln33His					CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.Q33H|CDC7_ENST00000430031.2_Missense_Mutation_p.Q33H	p.Q33H	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	2	358	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	33					D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.99G>T	CCDS734.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828017	0.71143	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.51325	0.71;0.82;0.82;1.87	5.42	4.5	0.54988	.	0.296081	0.32970	N	0.005426	T	0.44973	0.1319	L	0.29908	0.895	0.35811	D	0.823852	D;D	0.76494	0.996;0.999	D;D	0.75484	0.986;0.962	T	0.51687	-0.8674	10	0.48119	T	0.1	-0.9853	14.0338	0.64632	0.0:0.1508:0.8492:0.0	.	33;33	B7Z5H7;O00311	.;CDC7_HUMAN	H	33	ENSP00000407477:Q33H;ENSP00000234626:Q33H;ENSP00000393139:Q33H;ENSP00000398077:Q33H	ENSP00000234626:Q33H	Q	+	3	2	CDC7	91739960	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.897000	0.48664	1.400000	0.46741	0.591000	0.81541	CAG		0.393	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		4	69	1	0	0.150653	1	0.151842	4	69				
ANAPC4	29945	broad.mit.edu	37	4	25418156	25418156	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:25418156T>C	ENST00000315368.3	+	27	2153	c.2011T>C	c.(2011-2013)Ttg>Ctg	p.L671L	ANAPC4_ENST00000510092.1_Silent_p.L672L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	671					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CCAGCTGCCTTTGTCTTTAGT	0.358																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(2011-2013)Ttg>Ctg		anaphase promoting complex subunit 4							118.0	112.0	114.0					4																	25418156		2203	4300	6503	SO:0001819	synonymous_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25418156T>C	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2011T>C	4.37:g.25418156T>C						ANAPC4_ENST00000510092.1_Silent_p.L672L	p.L671L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			27	2153	+		Breast(46;0.0503)	671					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	c.2011T>C	CCDS3434.1																																																																																				0.358	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		16	43	0	0	0	1	0	16	43				
ZNF431	170959	broad.mit.edu	37	19	21365476	21365476	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21365476G>T	ENST00000311048.7	+	5	514	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	ZNF431_ENST00000600692.1_Missense_Mutation_p.R131I|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	124					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGACATAAAAGATTCTTTTCA	0.333																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(370-372)Gat>Tat		zinc finger protein 431							64.0	65.0	65.0					19																	21365476		2203	4300	6503	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365476G>T	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.370G>T	19.37:g.21365476G>T	ENSP00000308578:p.Asp124Tyr					ZNF431_ENST00000600692.1_Missense_Mutation_p.R131I|ZNF431_ENST00000594425.1_Intron	p.D124Y	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	514	+			124					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.370G>T	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	3.985	-0.005639	0.07773	.	.	ENSG00000196705	ENST00000311048	T	0.07021	3.23	0.362	0.362	0.16113	.	.	.	.	.	T	0.16342	0.0393	M	0.88241	2.94	0.09310	N	1	B	0.27450	0.179	B	0.34242	0.178	T	0.21415	-1.0246	8	0.56958	D	0.05	.	.	.	.	.	124	Q8TF32	ZN431_HUMAN	Y	124	ENSP00000308578:D124Y	ENSP00000308578:D124Y	D	+	1	0	ZNF431	21157316	0.000000	0.05858	0.065000	0.19835	0.062000	0.15995	-1.438000	0.02416	0.433000	0.26313	0.436000	0.28706	GAT		0.333	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		20	25	1	0	5.03518e-11	1	6.23768e-11	20	25				
FNBP4	23360	broad.mit.edu	37	11	47767735	47767735	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47767735T>A	ENST00000263773.5	-	7	1130	c.1118A>T	c.(1117-1119)gAa>gTa	p.E373V	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	373						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAACATAATTTCCTGTGGCTT	0.388																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(1117-1119)gAa>gTa		formin binding protein 4							250.0	245.0	247.0					11																	47767735		1852	4098	5950	SO:0001583	missense	23360							g.chr11:47767735T>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1118A>T	11.37:g.47767735T>A	ENSP00000263773:p.Glu373Val					FNBP4_ENST00000534003.1_5'UTR	p.E373V	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			7	1130	-			373					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1118A>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173490	0.57584	.	.	ENSG00000109920	ENST00000263773	T	0.34275	1.37	6.17	6.17	0.99709	.	0.410761	0.28989	N	0.013486	T	0.25975	0.0633	N	0.24115	0.695	0.33644	D	0.607598	B	0.31730	0.337	B	0.32211	0.142	T	0.41233	-0.9520	10	0.42905	T	0.14	-13.8616	11.0511	0.47889	0.0:0.0685:0.0:0.9315	.	373	Q8N3X1	FNBP4_HUMAN	V	373	ENSP00000263773:E373V	ENSP00000263773:E373V	E	-	2	0	FNBP4	47724311	0.999000	0.42202	0.944000	0.38274	0.767000	0.43475	6.415000	0.73328	2.371000	0.80710	0.533000	0.62120	GAA		0.388	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			44	96	0	0	0	1	0	44	96				
SULT1C2	6819	broad.mit.edu	37	2	108921632	108921632	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:108921632T>G	ENST00000437390.2	+	6	726	c.549T>G	c.(547-549)gtT>gtG	p.V183V	SULT1C2_ENST00000326853.5_Silent_p.V180V|SULT1C2_ENST00000409880.1_Silent_p.V132V|SULT1C2_ENST00000251481.6_Silent_p.V169V			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	175					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTTCAGTGGTTTGGGGTTCCT	0.428																																						ENST00000326853.5																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(538-540)gtT>gtG		sulfotransferase family, cytosolic, 1C, member 2							239.0	222.0	228.0					2																	108921632		2203	4300	6503	SO:0001819	synonymous_variant	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108921632T>G	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.549T>G	2.37:g.108921632T>G						SULT1C2_ENST00000437390.2_Silent_p.V183V|SULT1C2_ENST00000409880.1_Silent_p.V132V|SULT1C2_ENST00000251481.6_Silent_p.V169V	p.V180V	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN			7	993	+			169					Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000437390.2	37	c.540T>G		.	.	.	.	.	.	.	.	.	.	T	7.546	0.661678	0.14645	.	.	ENSG00000198203	ENST00000409067	.	.	.	4.64	-9.27	0.00659	.	.	.	.	.	T	0.58836	0.2150	.	.	.	0.48288	D	0.99962	.	.	.	.	.	.	T	0.67673	-0.5610	4	.	.	.	.	14.2245	0.65850	0.098:0.6724:0.0:0.2296	.	.	.	.	V	166	.	.	L	+	1	2	SULT1C2	108288064	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-5.872000	0.00093	-1.968000	0.01006	-0.366000	0.07423	TTG		0.428	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		43	65	0	0	0	1	0	43	65				
CCKAR	886	broad.mit.edu	37	4	26487340	26487340	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26487340A>G	ENST00000295589.3	-	3	739	c.545T>C	c.(544-546)tTg>tCg	p.L182S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	182					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AAAAGGCACCAAGTTGCTATA	0.458																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(544-546)tTg>tCg		cholecystokinin A receptor	Ceruletide(DB00403)						121.0	114.0	117.0					4																	26487340		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26487340A>G	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.545T>C	4.37:g.26487340A>G	ENSP00000295589:p.Leu182Ser						p.L182S	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			3	739	-		Breast(46;0.0503)	182					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.545T>C	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.730667	0.89390	.	.	ENSG00000163394	ENST00000295589	T	0.71698	-0.59	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.070231	0.56097	D	0.000030	D	0.84206	0.5421	M	0.79693	2.465	0.58432	D	0.999999	D	0.67145	0.996	D	0.70227	0.968	D	0.85491	0.1185	10	0.51188	T	0.08	.	15.9584	0.79906	1.0:0.0:0.0:0.0	.	182	P32238	CCKAR_HUMAN	S	182	ENSP00000295589:L182S	ENSP00000295589:L182S	L	-	2	0	CCKAR	26096438	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.962000	0.93254	2.165000	0.68154	0.528000	0.53228	TTG		0.458	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			16	34	0	0	0	1	0	16	34				
ATCAY	85300	broad.mit.edu	37	19	3905590	3905590	+	Missense_Mutation	SNP	G	G	A	rs201501328		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:3905590G>A	ENST00000450849.2	+	4	762	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ATCAY_ENST00000301260.6_Missense_Mutation_p.E99K|ATCAY_ENST00000398448.3_Missense_Mutation_p.E105K|ATCAY_ENST00000600960.1_Missense_Mutation_p.E99K	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	99					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGATGACATCGAGACCCCCGA	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14162	0.0		0.0	False		,,,				2504	0.0					ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(295-297)Gag>Aag		ataxia, cerebellar, Cayman type							124.0	123.0	123.0					19																	3905590		1966	4148	6114	SO:0001583	missense	85300				transport		protein binding	g.chr19:3905590G>A		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.295G>A	19.37:g.3905590G>A	ENSP00000390941:p.Glu99Lys					ATCAY_ENST00000301260.6_Missense_Mutation_p.E99K|ATCAY_ENST00000398448.3_Missense_Mutation_p.E105K|ATCAY_ENST00000600960.1_Missense_Mutation_p.E99K	p.E99K	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	4	762	+		Hepatocellular(1079;0.137)	99					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.295G>A	CCDS45923.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	32	5.136635	0.94517	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.46063	0.91;0.91;0.88	4.77	4.77	0.60923	.	0.310345	0.34362	N	0.004023	T	0.56262	0.1973	M	0.79693	2.465	0.80722	D	1	D;P	0.55800	0.973;0.846	P;P	0.49887	0.625;0.531	T	0.63834	-0.6547	10	0.49607	T	0.09	-3.0407	16.8389	0.85963	0.0:0.0:1.0:0.0	.	105;99	B4DS11;Q86WG3	.;ATCAY_HUMAN	K	99;99;99;105;77	ENSP00000390941:E99K;ENSP00000301260:E99K;ENSP00000381466:E105K	ENSP00000301260:E99K	E	+	1	0	ATCAY	3856590	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	9.159000	0.94728	2.206000	0.71126	0.543000	0.68304	GAG		0.557	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			47	55	0	0	0	1	0	47	55				
BCAR3	8412	broad.mit.edu	37	1	94027904	94027904	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94027904T>C	ENST00000370244.1	-	14	2660	c.2372A>G	c.(2371-2373)aAa>aGa	p.K791R	BCAR3_ENST00000370243.1_Missense_Mutation_p.K791R|BCAR3_ENST00000539242.1_Missense_Mutation_p.K467R|BCAR3_ENST00000370247.3_Missense_Mutation_p.K700R|BCAR3_ENST00000260502.6_Missense_Mutation_p.K791R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	791	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTGTGCACCTTTGCTGCCCCA	0.388																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2371-2373)aAa>aGa		breast cancer anti-estrogen resistance 3							154.0	146.0	149.0					1																	94027904		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94027904T>C	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2372A>G	1.37:g.94027904T>C	ENSP00000359264:p.Lys791Arg					BCAR3_ENST00000260502.6_Missense_Mutation_p.K791R|BCAR3_ENST00000370247.3_Missense_Mutation_p.K700R|BCAR3_ENST00000539242.1_Missense_Mutation_p.K467R|BCAR3_ENST00000370243.1_Missense_Mutation_p.K791R	p.K791R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	14	2660	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	791			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2372A>G	CCDS745.1	.	.	.	.	.	.	.	.	.	.	T	5.790	0.330040	0.10956	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.45	5.45	0.79879	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.142193	0.64402	D	0.000013	T	0.10078	0.0247	N	0.11756	0.17	0.47276	D	0.999377	B;B	0.10296	0.0;0.003	B;B	0.06405	0.001;0.002	T	0.11324	-1.0592	10	0.05351	T	0.99	-29.904	15.5104	0.75776	0.0:0.0:0.0:1.0	.	791;700	O75815;Q5TEW3	BCAR3_HUMAN;.	R	700;791;791;791;467	ENSP00000359267:K700R;ENSP00000260502:K791R;ENSP00000359264:K791R;ENSP00000359263:K791R;ENSP00000441343:K467R	ENSP00000260502:K791R	K	-	2	0	BCAR3	93800492	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.657000	0.67996	2.069000	0.61940	0.459000	0.35465	AAA		0.388	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			33	49	0	0	0	1	0	33	49				
PROX1	5629	broad.mit.edu	37	1	214171528	214171528	+	Silent	SNP	C	C	A	rs35176368		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:214171528C>A	ENST00000366958.4	+	2	2258	c.1650C>A	c.(1648-1650)ctC>ctA	p.L550L	PROX1_ENST00000261454.4_Silent_p.L550L|PROX1_ENST00000498508.2_Silent_p.L550L|PROX1_ENST00000435016.1_Silent_p.L550L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	550					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGAAGGGCTCTCCTTGTCGC	0.517																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1648-1650)ctC>ctA		prospero homeobox 1							93.0	96.0	95.0					1																	214171528		2203	4300	6503	SO:0001819	synonymous_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171528C>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1650C>A	1.37:g.214171528C>A						PROX1_ENST00000498508.2_Silent_p.L550L|PROX1_ENST00000435016.1_Silent_p.L550L|PROX1_ENST00000261454.4_Silent_p.L550L	p.L550L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	2258	+			550					A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.1650C>A	CCDS31021.1																																																																																				0.517	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		38	83	1	0	2.2871e-25	1	3.22072e-25	38	83				
APC	324	broad.mit.edu	37	5	112179240	112179240	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112179240C>T	ENST00000457016.1	+	16	8329	c.7949C>T	c.(7948-7950)gCt>gTt	p.A2650V	APC_ENST00000257430.4_Missense_Mutation_p.A2650V|APC_ENST00000508376.2_Missense_Mutation_p.A2650V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2650	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGGCACCTGCTGTTTCTAAA	0.418		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(7948-7950)gCt>gTt		adenomatous polyposis coli							96.0	105.0	102.0					5																	112179240		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112179240C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7949C>T	5.37:g.112179240C>T	ENSP00000413133:p.Ala2650Val	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.A2650V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A2650V	p.A2650V			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	8329	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2650			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.7949C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010685	0.35511	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90324	-2.65;-2.65;-2.65	6.17	6.17	0.99709	.	0.252386	0.39759	N	0.001276	D	0.87233	0.6126	L	0.29908	0.895	0.41971	D	0.99075	B;B	0.31383	0.321;0.181	B;B	0.34180	0.177;0.1	T	0.82684	-0.0335	9	.	.	.	-12.0893	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2652;2650	Q4LE70;P25054	.;APC_HUMAN	V	2650	ENSP00000413133:A2650V;ENSP00000257430:A2650V;ENSP00000427089:A2650V	.	A	+	2	0	APC	112207139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.759000	0.74934	2.941000	0.99782	0.655000	0.94253	GCT		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		37	49	0	0	0	1	0	37	49				
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	C	T	rs144660402		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000478730.2_Silent_p.F211F|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	211						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15618	0.0		0.001	False		,,,				2504	0.0					ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(631-633)ttC>ttT		ORAI calcium release-activated calcium modulator 2		C	,	0,4406		0,0,2203	42.0	36.0	38.0		633,633	0.3	1.0	7	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ORAI2	NM_001126340.1,NM_032831.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	211/255,211/255	102087367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087367C>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.633C>T	7.37:g.102087367C>T						ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Silent_p.F211F	p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	868	+			211					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.633C>T	CCDS5722.1																																																																																				0.667	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		14	37	0	0	0	1	0	14	37				
EIF4ENIF1	56478	broad.mit.edu	37	22	31859097	31859097	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:31859097C>T	ENST00000397525.1	-	6	831	c.608G>A	c.(607-609)cGt>cAt	p.R203H	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R203H|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R203H|RP11-247I13.8_ENST00000439588.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	203	Arg-rich.					cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACCAAAGACACGCTTACTATC	0.403																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(607-609)cGt>cAt		eukaryotic translation initiation factor 4E nuclear import factor 1							92.0	80.0	84.0					22																	31859097		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31859097C>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.608G>A	22.37:g.31859097C>T	ENSP00000380659:p.Arg203His					RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R203H|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R203H	p.R203H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			6	831	-			203			Arg-rich.		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.608G>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308286	0.95629	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.51	5.51	0.81932	.	0.054061	0.64402	D	0.000001	T	0.78966	0.4367	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77892	-0.2418	9	0.46703	T	0.11	-11.8609	18.4292	0.90619	0.0:1.0:0.0:0.0	.	203	Q9NRA8	4ET_HUMAN	H	203	.	ENSP00000328103:R203H	R	-	2	0	EIF4ENIF1	30189097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.220000	0.78008	2.781000	0.95711	0.650000	0.86243	CGT		0.403	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		3	24	0	0	0	1	0	3	24				
STRIP2	57464	broad.mit.edu	37	7	129100195	129100195	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:129100195G>T	ENST00000249344.2	+	13	1498	c.1458G>T	c.(1456-1458)gaG>gaT	p.E486D	STRIP2_ENST00000435494.2_Missense_Mutation_p.E486D	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	486					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AGGAGCTGGAGAAGTGCCCTA	0.473																																						ENST00000249344.2																			0											c.(1456-1458)gaG>gaT		striatin interacting protein 2							98.0	87.0	91.0					7																	129100195		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129100195G>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1458G>T	7.37:g.129100195G>T	ENSP00000249344:p.Glu486Asp					STRIP2_ENST00000435494.2_Missense_Mutation_p.E486D	p.E486D	NM_020704.2	NP_065755.1					13	1498	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.1458G>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	9.541	1.113379	0.20795	.	.	ENSG00000128578	ENST00000249344;ENST00000435494;ENST00000450266	T;T	0.47528	0.85;0.84	5.49	2.7	0.31948	.	0.052955	0.85682	D	0.000000	T	0.36635	0.0974	L	0.38838	1.175	0.42635	D	0.993398	P;B	0.37061	0.58;0.217	B;B	0.40256	0.324;0.138	T	0.07233	-1.0783	10	0.24483	T	0.36	-26.1295	9.2106	0.37316	0.3608:0.0:0.6392:0.0	.	486;486	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	D	486;486;157	ENSP00000249344:E486D;ENSP00000392393:E486D	ENSP00000249344:E486D	E	+	3	2	FAM40B	128887431	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.982000	0.40638	0.681000	0.31386	-0.229000	0.12294	GAG		0.473	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		7	17	1	0	8.12818e-05	1	8.79784e-05	7	17				
ANAPC2	29882	broad.mit.edu	37	9	140082342	140082342	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140082342G>A	ENST00000323927.2	-	2	335	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCGTCAAGGAGTAGCAAAAGG	0.587																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(331-333)Ctc>Ttc		anaphase promoting complex subunit 2							91.0	96.0	94.0					9																	140082342		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140082342G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.331C>T	9.37:g.140082342G>A	ENSP00000314004:p.Leu111Phe						p.L111F	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	2	335	-	all_cancers(76;0.0926)		111					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.331C>T	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377813	0.42105	.	.	ENSG00000176248	ENST00000323927	T	0.70986	-0.53	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	L	0.59436	1.845	0.80722	D	1	B	0.21753	0.06	B	0.20767	0.031	T	0.56571	-0.7957	10	0.17369	T	0.5	-26.2622	9.3517	0.38142	0.0985:0.0:0.9015:0.0	.	111	Q9UJX6	ANC2_HUMAN	F	111	ENSP00000314004:L111F	ENSP00000314004:L111F	L	-	1	0	ANAPC2	139202163	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.211000	0.65219	2.295000	0.77249	0.462000	0.41574	CTC		0.587	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		33	80	0	0	0	1	0	33	80				
ENPP3	5169	broad.mit.edu	37	6	132006568	132006568	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132006568C>A	ENST00000414305.1	+	14	1513	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	ENPP3_ENST00000357639.3_Missense_Mutation_p.F395L|ENPP3_ENST00000358229.5_Missense_Mutation_p.F395L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	395	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|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)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GAATAAACTTCTTCTACATGT	0.363																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1183-1185)ttC>ttA		ectonucleotide pyrophosphatase/phosphodiesterase 3							134.0	150.0	145.0					6																	132006568		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132006568C>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1185C>A	6.37:g.132006568C>A	ENSP00000406261:p.Phe395Leu					ENPP3_ENST00000357639.3_Missense_Mutation_p.F395L|ENPP3_ENST00000358229.5_Missense_Mutation_p.F395L	p.F395L			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	14	1513	+	Breast(56;0.0753)		395			Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1185C>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115421	0.37339	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.70869	-0.52;-0.52;-0.52	5.69	3.9	0.45041	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	N	0.01168	-0.975	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.16335	-1.0406	10	0.52906	T	0.07	-18.524	6.432	0.21803	0.0:0.6817:0.0:0.3183	.	395	O14638	ENPP3_HUMAN	L	395	ENSP00000406261:F395L;ENSP00000350265:F395L;ENSP00000350964:F395L	ENSP00000350265:F395L	F	+	3	2	ENPP3	132048261	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.036000	0.41165	1.422000	0.47177	0.591000	0.81541	TTC		0.363	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			45	95	1	0	8.86878e-18	1	1.19361e-17	45	95				
CALCOCO1	57658	broad.mit.edu	37	12	54110096	54110096	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54110096T>C	ENST00000550804.1	-	8	1013	c.953A>G	c.(952-954)aAa>aGa	p.K318R	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.K318R|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.K318R			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	318					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGTCTTTCAGTCGCTG	0.572																																						ENST00000548263.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(952-954)aAa>aGa		calcium binding and coiled-coil domain 1							103.0	87.0	93.0					12																	54110096		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54110096T>C	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.953A>G	12.37:g.54110096T>C	ENSP00000449960:p.Lys318Arg					CALCOCO1_ENST00000262059.4_Missense_Mutation_p.K318R|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.K318R	p.K318R			Q9P1Z2	CACO1_HUMAN			8	1001	-			318					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.953A>G	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.745078	0.30865	.	.	ENSG00000012822	ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	T;T;T	0.12569	2.67;2.67;2.67	4.78	4.78	0.61160	.	0.000000	0.48286	D	0.000196	T	0.13970	0.0338	N	0.25890	0.77	0.36196	D	0.850401	P;P;P;P	0.51449	0.945;0.872;0.872;0.895	P;P;P;P	0.50049	0.629;0.495;0.495;0.629	T	0.17228	-1.0376	10	0.26408	T	0.33	-37.1984	10.921	0.47165	0.0:0.0:0.0:1.0	.	311;318;318;318	B4DG60;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;CACO1_HUMAN	R	318;256;318;318;311;195	ENSP00000262059:K318R;ENSP00000447647:K318R;ENSP00000449960:K318R	ENSP00000262059:K318R	K	-	2	0	CALCOCO1	52396363	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	4.060000	0.57477	2.145000	0.66743	0.533000	0.62120	AAA		0.572	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		37	52	0	0	0	1	0	37	52				
DCHS2	54798	broad.mit.edu	37	4	155253722	155253722	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155253722A>C	ENST00000357232.4	-	9	2140	c.2141T>G	c.(2140-2142)aTt>aGt	p.I714S	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.I1213S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	714	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAGCTGTAATTTTGCCTAT	0.413																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2140-2142)aTt>aGt		dachsous cadherin-related 2							131.0	139.0	137.0					4																	155253722		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253722A>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2141T>G	4.37:g.155253722A>C	ENSP00000349768:p.Ile714Ser					DCHS2_ENST00000339452.1_Missense_Mutation_p.I1213S	p.I714S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	2140	-	all_hematologic(180;0.208)	Renal(120;0.0854)	714			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2141T>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195245	0.78902	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.61742	0.08;0.58	5.01	5.01	0.66863	Cadherin (3);Cadherin-like (1);	0.420237	0.21475	N	0.073927	T	0.72145	0.3424	M	0.75447	2.3	0.80722	D	1	D;P	0.60160	0.987;0.944	P;P	0.58391	0.838;0.463	T	0.76631	-0.2888	10	0.87932	D	0	.	15.0135	0.71567	1.0:0.0:0.0:0.0	.	1213;714	E9PC11;Q6V1P9	.;PCD23_HUMAN	S	714;1213;1213	ENSP00000349768:I714S;ENSP00000345062:I1213S	ENSP00000345062:I1213S	I	-	2	0	DCHS2	155473172	0.959000	0.32827	0.313000	0.25210	0.982000	0.71751	8.685000	0.91246	1.992000	0.58205	0.482000	0.46254	ATT		0.413	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		47	70	0	0	0	1	0	47	70				
FBLN5	10516	broad.mit.edu	37	14	92353567	92353567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92353567C>A	ENST00000342058.4	-	7	1302	c.709G>T	c.(709-711)Gaa>Taa	p.E237*	FBLN5_ENST00000556154.1_Nonsense_Mutation_p.E242*|FBLN5_ENST00000267620.10_Nonsense_Mutation_p.E278*	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	237	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TCCTCAAGTTCATATCCTGGG	0.552																																						ENST00000267620.10																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(832-834)Gaa>Taa		fibulin 5							213.0	185.0	194.0					14																	92353567		2203	4300	6503	SO:0001587	stop_gained	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92353567C>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.709G>T	14.37:g.92353567C>A	ENSP00000345008:p.Glu237*					FBLN5_ENST00000342058.4_Nonsense_Mutation_p.E237*|FBLN5_ENST00000556154.1_Nonsense_Mutation_p.E242*	p.E278*			Q9UBX5	FBLN5_HUMAN			8	1001	-		all_cancers(154;0.0722)	237			EGF-like 5; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Nonsense_Mutation	SNP	ENST00000342058.4	37	c.832G>T	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	C	40	8.139053	0.98672	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	.	.	.	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.7803	0.63079	0.0:0.9261:0.0:0.0739	.	.	.	.	X	278;237;242	.	ENSP00000267620:E334X	E	-	1	0	FBLN5	91423320	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.776000	0.85560	1.368000	0.46115	0.561000	0.74099	GAA		0.552	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			70	117	1	0	1.05635e-38	1	1.52265e-38	70	117				
GPR158	57512	broad.mit.edu	37	10	25887640	25887640	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25887640G>A	ENST00000376351.3	+	11	3444	c.3085G>A	c.(3085-3087)Gta>Ata	p.V1029I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1029					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCAAAAGCACGTATCTATTGT	0.458																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3085-3087)Gta>Ata		G protein-coupled receptor 158							65.0	64.0	64.0					10																	25887640		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887640G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3085G>A	10.37:g.25887640G>A	ENSP00000365529:p.Val1029Ile					GPR158_ENST00000490549.1_3'UTR	p.V1029I	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3444	+			1029					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3085G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134221	0.56828	.	.	ENSG00000151025	ENST00000376351	T	0.35789	1.29	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000010	T	0.39091	0.1065	M	0.68952	2.095	0.58432	D	0.999994	D	0.55172	0.97	B	0.39465	0.3	T	0.37663	-0.9696	10	0.33940	T	0.23	.	19.2193	0.93790	0.0:0.0:1.0:0.0	.	1029	Q5T848	GP158_HUMAN	I	1029	ENSP00000365529:V1029I	ENSP00000365529:V1029I	V	+	1	0	GPR158	25927646	1.000000	0.71417	0.603000	0.28903	0.214000	0.24535	9.476000	0.97823	2.524000	0.85096	0.655000	0.94253	GTA		0.458	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		19	52	0	0	0	1	0	19	52				
TFPI	7035	broad.mit.edu	37	2	188343453	188343453	+	Intron	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188343453G>T	ENST00000233156.3	-	6	923				AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Intron|TFPI_ENST00000409676.1_Missense_Mutation_p.H236N|TFPI_ENST00000339091.4_Missense_Mutation_p.H236N	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	ATGGATGCATGAATGCAGAAG	0.353																																						ENST00000409676.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(706-708)Cat>Aat		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						135.0	119.0	124.0					2																	188343453		2203	4300	6503	SO:0001627	intron_variant	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188343453G>T		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.628+5397C>A	2.37:g.188343453G>T						TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.H236N|TFPI_ENST00000233156.3_Intron	p.H236N			P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		8	970	-			0			BPTI/Kunitz inhibitor 3.		O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.706C>A	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317028	0.40996	.	.	ENSG00000003436	ENST00000409676;ENST00000339091	T;T	0.65364	-0.15;-0.15	4.72	-1.79	0.07932	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.27663	N	0.947012	B	0.09022	0.002	B	0.09377	0.004	T	0.23154	-1.0196	8	0.39692	T	0.17	.	0.7846	0.01046	0.4442:0.1775:0.2004:0.1779	.	236	P10646-2	.	N	236	ENSP00000386344:H236N;ENSP00000342306:H236N	ENSP00000342306:H236N	H	-	1	0	TFPI	188051698	0.337000	0.24766	0.872000	0.34217	0.995000	0.86356	0.574000	0.23714	-0.234000	0.09782	0.557000	0.71058	CAT		0.353	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		11	16	1	0	0.0692343	1	0.0701576	11	16				
ARHGAP26	23092	broad.mit.edu	37	5	142150427	142150427	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:142150427A>C	ENST00000274498.4	+	1	479	c.101A>C	c.(100-102)aAa>aCa	p.K34T	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.K34T	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	34					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGACCAACAAATTCATCAAG	0.607																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(100-102)aAa>aCa		Rho GTPase activating protein 26							64.0	57.0	60.0					5																	142150427		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142150427A>C	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.101A>C	5.37:g.142150427A>C	ENSP00000274498:p.Lys34Thr					ARHGAP26_ENST00000274498.4_Missense_Mutation_p.K34T	p.K34T	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	456	+		all_hematologic(541;0.0416)	34					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.101A>C	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518953	0.85495	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	T;T	0.40225	1.04;1.04	5.61	5.61	0.85477	IRSp53/MIM homology domain (IMD) (2);	0.051263	0.85682	D	0.000000	T	0.62974	0.2472	M	0.74647	2.275	0.58432	D	0.999994	D;P	0.67145	0.996;0.941	D;P	0.69142	0.962;0.79	T	0.63422	-0.6641	10	0.39692	T	0.17	.	14.7797	0.69756	1.0:0.0:0.0:0.0	.	34;34	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	T	34	ENSP00000274498:K34T;ENSP00000367243:K34T	ENSP00000274498:K34T	K	+	2	0	ARHGAP26	142130611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.932000	0.70121	2.126000	0.65437	0.460000	0.39030	AAA		0.607	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		30	50	0	0	0	1	0	30	50				
WASF1	8936	broad.mit.edu	37	6	110423417	110423417	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110423417G>T	ENST00000392589.1	-	10	1732	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	WASF1_ENST00000392587.2_Missense_Mutation_p.S299Y|WASF1_ENST00000392586.1_Missense_Mutation_p.S299Y|WASF1_ENST00000392588.1_Missense_Mutation_p.S299Y|WASF1_ENST00000359451.2_Missense_Mutation_p.S299Y	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	299					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ACCTGTAGCAGAACTGAAATG	0.418																																						ENST00000392589.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16						c.(895-897)tCt>tAt		WAS protein family, member 1							95.0	92.0	93.0					6																	110423417		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110423417G>T	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.896C>A	6.37:g.110423417G>T	ENSP00000376368:p.Ser299Tyr					WASF1_ENST00000392587.2_Missense_Mutation_p.S299Y|WASF1_ENST00000392588.1_Missense_Mutation_p.S299Y|WASF1_ENST00000359451.2_Missense_Mutation_p.S299Y|WASF1_ENST00000392586.1_Missense_Mutation_p.S299Y	p.S299Y	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	1732	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	299					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.896C>A	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520572	0.64747	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.64	5.64	0.86602	.	0.588848	0.18696	N	0.133721	T	0.21761	0.0524	N	0.14661	0.345	0.49915	D	0.999836	B	0.32693	0.38	B	0.33521	0.165	T	0.09292	-1.0681	10	0.21540	T	0.41	.	19.7561	0.96291	0.0:0.0:1.0:0.0	.	299	Q92558	WASF1_HUMAN	Y	299	ENSP00000376365:S299Y;ENSP00000376366:S299Y;ENSP00000376368:S299Y;ENSP00000376367:S299Y;ENSP00000352425:S299Y	ENSP00000352425:S299Y	S	-	2	0	WASF1	110530110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.154000	0.94694	2.672000	0.90937	0.539000	0.68188	TCT		0.418	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		36	68	1	0	7.04047e-22	1	9.7605e-22	36	68				
SCUBE1	80274	broad.mit.edu	37	22	43608571	43608571	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:43608571G>A	ENST00000360835.4	-	17	2207	c.2081C>T	c.(2080-2082)gCc>gTc	p.A694V	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	694					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GAAGCCATCGGCCGAGAAGAA	0.677																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2080-2082)gCc>gTc		signal peptide, CUB domain, EGF-like 1							36.0	37.0	36.0					22																	43608571		2184	4264	6448	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43608571G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2081C>T	22.37:g.43608571G>A	ENSP00000354080:p.Ala694Val						p.A694V	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			17	2207	-		all_neural(38;0.0414)|Ovarian(80;0.07)	694					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.2081C>T	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	0.662	-0.805298	0.02819	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.15603	2.41	4.3	-0.416	0.12351	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	1.237780	0.05298	N	0.522439	T	0.12178	0.0296	L	0.37697	1.125	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.35425	-0.9789	10	0.17369	T	0.5	.	4.2156	0.10533	0.2223:0.0:0.5033:0.2744	.	694	Q8IWY4	SCUB1_HUMAN	V	694;324	ENSP00000354080:A694V	ENSP00000354080:A694V	A	-	2	0	SCUBE1	41938515	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.528000	0.23002	-0.053000	0.13289	-0.793000	0.03317	GCC		0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		4	12	0	0	0	1	0	4	12				
DENND4C	55667	broad.mit.edu	37	9	19346945	19346945	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19346945C>A	ENST00000380432.2	+	18	3356	c.3323C>A	c.(3322-3324)tCt>tAt	p.S1108Y	DENND4C_ENST00000434457.2_Missense_Mutation_p.S1393Y|DENND4C_ENST00000602925.1_Missense_Mutation_p.S1344Y			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1108					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTAGTAAATTCTTTGTCAGGG	0.463																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1741-1743)tCt>tAt		DENN/MADD domain containing 4C							50.0	50.0	50.0					9																	19346945		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19346945C>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3323C>A	9.37:g.19346945C>A	ENSP00000369797:p.Ser1108Tyr					DENND4C_ENST00000434457.2_Missense_Mutation_p.S1393Y|DENND4C_ENST00000380432.2_Missense_Mutation_p.S1108Y|DENND4C_ENST00000602925.1_Missense_Mutation_p.S1344Y|DENND4C_ENST00000540671.1_Missense_Mutation_p.S438Y	p.S581Y			Q5VZ89	DEN4C_HUMAN			19	3494	+			1108					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1742C>A		.	.	.	.	.	.	.	.	.	.	C	25.3	4.624416	0.87560	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.56444	0.46;0.46	5.56	5.56	0.83823	.	4.821550	0.00465	N	0.000103	T	0.77611	0.4156	M	0.62723	1.935	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.996;1.0;0.995	D;D;D;P	0.75484	0.986;0.939;0.986;0.903	T	0.60357	-0.7279	10	0.87932	D	0	-19.9163	19.5261	0.95208	0.0:1.0:0.0:0.0	.	438;1108;290;1108	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	Y	1108;581;290;438;581;290;105	ENSP00000305795:S581Y;ENSP00000443804:S438Y	ENSP00000305795:S581Y	S	+	2	0	DENND4C	19336945	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.757000	0.68766	2.616000	0.88540	0.655000	0.94253	TCT		0.463	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		10	32	1	0	3.86212e-05	1	4.21111e-05	10	32				
PEG3	5178	broad.mit.edu	37	19	57327758	57327758	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57327758G>A	ENST00000326441.9	-	10	2415	c.2052C>T	c.(2050-2052)ctC>ctT	p.L684L	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.L684L|PEG3_ENST00000593695.1_Silent_p.L558L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.L560L|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	684					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAAAGTCACAGAGCTTCTCCT	0.448																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2050-2052)ctC>ctT		paternally expressed 3							85.0	88.0	87.0					19																	57327758		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327758G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2052C>T	19.37:g.57327758G>A						PEG3_ENST00000598410.1_Silent_p.L560L|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.L684L|PEG3_ENST00000593695.1_Silent_p.L558L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	p.L684L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2415	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	684					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.2052C>T	CCDS12948.1																																																																																				0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			16	62	0	0	0	1	0	16	62				
CFAP58	159686	broad.mit.edu	37	10	106209891	106209891	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:106209891G>T	ENST00000369704.3	+	17	2573	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		813						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAGGTAGAGAAACTTACCA	0.318																																						ENST00000369704.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(2437-2439)gaG>gaT		coiled-coil domain containing 147							75.0	80.0	78.0					10																	106209891		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106209891G>T																												ENST00000369704.3:c.2439G>T	10.37:g.106209891G>T	ENSP00000358718:p.Glu813Asp						p.E813D	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	17	2573	+		Colorectal(252;0.103)|Breast(234;0.122)	813					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.2439G>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697624	0.30142	.	.	ENSG00000120051	ENST00000369704	T	0.49720	0.77	5.76	1.9	0.25705	.	0.167173	0.52532	D	0.000078	T	0.36386	0.0965	L	0.53780	1.695	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.10800	-1.0614	10	0.14252	T	0.57	-17.6311	8.1845	0.31330	0.4332:0.0:0.5668:0.0	.	813	Q5T655	CC147_HUMAN	D	813	ENSP00000358718:E813D	ENSP00000358718:E813D	E	+	3	2	CCDC147	106199881	1.000000	0.71417	0.984000	0.44739	0.673000	0.39480	0.841000	0.27613	0.374000	0.24650	0.650000	0.86243	GAG		0.318	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			24	48	1	0	1.85244e-09	1	2.22951e-09	24	48				
DNAH2	146754	broad.mit.edu	37	17	7707670	7707670	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7707670G>T	ENST00000572933.1	+	59	10529	c.9069G>T	c.(9067-9069)gtG>gtT	p.V3023V	DNAH2_ENST00000389173.2_Silent_p.V3023V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3023	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTGCAAGTGATGTCGTTGG	0.542																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9067-9069)gtG>gtT		dynein, axonemal, heavy chain 2							145.0	118.0	127.0					17																	7707670		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7707670G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9069G>T	17.37:g.7707670G>T						DNAH2_ENST00000389173.2_Silent_p.V3023V	p.V3023V			Q9P225	DYH2_HUMAN			59	10529	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3023			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.9069G>T	CCDS32551.1																																																																																				0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		23	66	1	0	2.32416e-17	1	3.12201e-17	23	66				
FYN	2534	broad.mit.edu	37	6	112020831	112020831	+	Intron	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112020831G>A	ENST00000354650.3	-	9	1469				FYN_ENST00000368667.2_Intron|FYN_ENST00000538466.1_Missense_Mutation_p.S247L|FYN_ENST00000229470.5_Missense_Mutation_p.S198L|FYN_ENST00000368682.3_Missense_Mutation_p.S247L|FYN_ENST00000356013.2_Intron|FYN_ENST00000368678.4_Missense_Mutation_p.S247L|FYN_ENST00000229471.4_Intron|FYN_ENST00000476769.2_Intron	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase						activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GGTACAACTCGATGCAATCAC	0.418																																						ENST00000368682.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(739-741)tCg>tTg		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						117.0	109.0	112.0					6																	112020831		2203	4300	6503	SO:0001627	intron_variant	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112020831G>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.862+475C>T	6.37:g.112020831G>A						FYN_ENST00000368667.2_Intron|FYN_ENST00000356013.2_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000538466.1_Missense_Mutation_p.S247L|FYN_ENST00000354650.3_Intron|FYN_ENST00000368678.4_Missense_Mutation_p.S247L|FYN_ENST00000229470.5_Missense_Mutation_p.S198L|FYN_ENST00000476769.2_Intron	p.S247L			P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	9	961	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	247					B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.740C>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725232	0.48833	.	.	ENSG00000010810	ENST00000368682;ENST00000368678;ENST00000229470;ENST00000538466;ENST00000544792	T;T;T;T	0.75154	-0.91;-0.91;1.83;-0.91	5.87	5.87	0.94306	.	.	.	.	.	T	0.40372	0.1114	N	0.04132	-0.27	0.21355	N	0.999719	B	0.11235	0.004	B	0.09377	0.004	T	0.15780	-1.0425	9	0.20046	T	0.44	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	247	E1P556	.	L	247;247;198;247;198	ENSP00000357671:S247L;ENSP00000357667:S247L;ENSP00000229470:S198L;ENSP00000440646:S247L	ENSP00000229470:S198L	S	-	2	0	FYN	112127524	1.000000	0.71417	0.937000	0.37676	0.911000	0.54048	6.243000	0.72384	2.941000	0.99782	0.655000	0.94253	TCG		0.418	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			21	51	0	0	0	1	0	21	51				
RASSF2	9770	broad.mit.edu	37	20	4776603	4776603	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4776603C>T	ENST00000379400.3	-	5	340	c.145G>A	c.(145-147)Gag>Aag	p.E49K	RASSF2_ENST00000379376.2_Missense_Mutation_p.E49K|RASSF2_ENST00000478553.1_5'Flank	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	49					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ACAATGAACTCGTCTTCTTCC	0.552																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(145-147)Gag>Aag		Ras association (RalGDS/AF-6) domain family member 2							65.0	63.0	64.0					20																	4776603		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4776603C>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.145G>A	20.37:g.4776603C>T	ENSP00000368710:p.Glu49Lys					RASSF2_ENST00000379376.2_Missense_Mutation_p.E49K	p.E49K	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			5	340	-			49					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.145G>A	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646827	0.67358	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.14144	2.53;2.53	4.89	4.89	0.63831	.	0.121526	0.64402	D	0.000012	T	0.22322	0.0538	M	0.68952	2.095	0.80722	D	1	D	0.63880	0.993	P	0.50109	0.631	T	0.06679	-1.0813	10	0.08837	T	0.75	.	16.8063	0.85706	0.0:1.0:0.0:0.0	.	49	P50749	RASF2_HUMAN	K	49	ENSP00000368710:E49K;ENSP00000368684:E49K	ENSP00000368684:E49K	E	-	1	0	RASSF2	4724603	1.000000	0.71417	0.993000	0.49108	0.841000	0.47740	5.561000	0.67339	2.549000	0.85964	0.563000	0.77884	GAG		0.552	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		6	49	0	0	0	1	0	6	49				
RASGRF1	5923	broad.mit.edu	37	15	79320125	79320125	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79320125A>C	ENST00000419573.3	-	9	1613	c.1339T>G	c.(1339-1341)Tgt>Ggt	p.C447G	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.C447G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	447					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGATCTCACAGCCTTCGATG	0.577																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1339-1341)Tgt>Ggt		Ras protein-specific guanine nucleotide-releasing factor 1							212.0	174.0	187.0					15																	79320125		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79320125A>C	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1339T>G	15.37:g.79320125A>C	ENSP00000405963:p.Cys447Gly					RASGRF1_ENST00000558480.2_Missense_Mutation_p.C447G|RASGRF1_ENST00000560334.1_5'UTR	p.C447G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			9	1613	-			447					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.1339T>G	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995797	0.74703	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.30448	1.53	4.09	4.09	0.47781	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.80764	0.99;0.986;0.986;0.994	T	0.54002	-0.8358	10	0.33940	T	0.23	.	11.1418	0.48406	1.0:0.0:0.0:0.0	.	447;447;447;447	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	G	447	ENSP00000405963:C447G	ENSP00000378224:C447G	C	-	1	0	RASGRF1	77107180	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.844000	0.92147	1.722000	0.51474	0.392000	0.25879	TGT		0.577	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		5	109	0	0	0	1	0	5	109				
RLTPR	146206	broad.mit.edu	37	16	67681792	67681792	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67681792C>T	ENST00000334583.6	+	13	1330	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	RLTPR_ENST00000545661.1_Silent_p.F334F	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	334					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.F334F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ATGCCGCCTTCGACTCCACCC	0.672																																						ENST00000334583.6																			1	Substitution - coding silent(1)	p.F334F(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1000-1002)ttC>ttT		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							19.0	22.0	21.0					16																	67681792		1927	4133	6060	SO:0001819	synonymous_variant	146206							g.chr16:67681792C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1002C>T	16.37:g.67681792C>T						RLTPR_ENST00000545661.1_Silent_p.F334F	p.F334F	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	13	1330	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	334					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1002C>T	CCDS45513.1																																																																																				0.672	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		9	18	0	0	0	1	0	9	18				
USP25	29761	broad.mit.edu	37	21	17191113	17191113	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17191113A>G	ENST00000285679.6	+	10	1397	c.1028A>G	c.(1027-1029)gAa>gGa	p.E343G	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.E343G|USP25_ENST00000285681.2_Missense_Mutation_p.E343G	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	343	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCAATGATTGAAGGAGAAATT	0.383																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1027-1029)gAa>gGa		ubiquitin specific peptidase 25							150.0	148.0	149.0					21																	17191113		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17191113A>G	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1028A>G	21.37:g.17191113A>G	ENSP00000285679:p.Glu343Gly					USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.E343G|USP25_ENST00000400183.2_Missense_Mutation_p.E343G	p.E343G			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	10	1397	+			343					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1028A>G	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806700	0.70682	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.74947	-0.89;-0.89;-0.89	4.26	4.26	0.50523	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.102996	0.64402	D	0.000003	D	0.83036	0.5167	M	0.80982	2.52	0.80722	D	1	P;P;B	0.49253	0.837;0.921;0.322	P;P;B	0.55508	0.547;0.777;0.264	D	0.85039	0.0922	10	0.51188	T	0.08	.	14.4422	0.67325	1.0:0.0:0.0:0.0	.	343;343;343	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	G	343	ENSP00000285681:E343G;ENSP00000285679:E343G;ENSP00000383044:E343G	ENSP00000285679:E343G	E	+	2	0	USP25	16112984	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.643000	0.91040	2.149000	0.67028	0.533000	0.62120	GAA		0.383	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			32	55	0	0	0	1	0	32	55				
RP11-556N21.1	0	broad.mit.edu	37	13	25144756	25144756	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25144756G>T	ENST00000453498.1	+	0	297																											TGACGGGTATGAATATGAACA	0.478																																						ENST00000453498.1																			0																																																			0							g.chr13:25144756G>T																													13.37:g.25144756G>T														0	297	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.478	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			8	25	1	0	2.74318e-10	1	3.35981e-10	8	25				
BPI	671	broad.mit.edu	37	20	36938940	36938940	+	Missense_Mutation	SNP	C	C	T	rs201900727		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36938940C>T	ENST00000262865.4	+	4	523	c.434C>T	c.(433-435)tCg>tTg	p.S145L	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	145					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGTCCATTTCGGCTGATCTG	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21929	0.0		0.0	False		,,,				2504	0.0					ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(433-435)tCg>tTg		bactericidal/permeability-increasing protein		C	LEU/SER	0,4406		0,0,2203	108.0	94.0	99.0		434	-0.8	0.0	20		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPI	NM_001725.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	145/488	36938940	1,13005	2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36938940C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.434C>T	20.37:g.36938940C>T	ENSP00000262865:p.Ser145Leu					CTD-2308N23.2_ENST00000437016.1_RNA	p.S145L	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			4	523	+		Myeloproliferative disorder(115;0.00878)	145					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.434C>T	CCDS13303.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.77	2.038588	0.35989	0.0	1.16E-4	ENSG00000101425	ENST00000262865	T	0.05786	3.39	3.54	-0.808	0.10868	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.657350	0.03458	N	0.211768	T	0.06142	0.0159	L	0.52126	1.63	0.09310	N	1	P	0.41848	0.763	B	0.31547	0.132	T	0.42481	-0.9449	10	0.33141	T	0.24	-0.1946	6.461	0.21956	0.0:0.5126:0.0:0.4874	.	145	P17213	BPI_HUMAN	L	145	ENSP00000262865:S145L	ENSP00000262865:S145L	S	+	2	0	BPI	36372354	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.391000	0.07323	-0.119000	0.11830	-0.140000	0.14226	TCG		0.507	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		25	42	0	0	0	1	0	25	42				
ABCA6	23460	broad.mit.edu	37	17	67111054	67111054	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67111054T>C	ENST00000284425.2	-	13	1805	c.1631A>G	c.(1630-1632)aAt>aGt	p.N544S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	544	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCAGAGAGATTTTTATTATA	0.308																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1630-1632)aAt>aGt		ATP-binding cassette, sub-family A (ABC1), member 6							62.0	60.0	60.0					17																	67111054		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67111054T>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1631A>G	17.37:g.67111054T>C	ENSP00000284425:p.Asn544Ser						p.N544S	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			13	1805	-	Breast(10;5.65e-12)		544			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1631A>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822292	0.32237	.	.	ENSG00000154262	ENST00000284425	D	0.93426	-3.22	4.87	4.87	0.63330	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.208590	0.33110	N	0.005269	D	0.87014	0.6072	N	0.13098	0.295	0.80722	D	1	B	0.17465	0.022	B	0.22152	0.038	T	0.83239	-0.0059	10	0.38643	T	0.18	.	14.0864	0.64959	0.0:0.0:0.0:1.0	.	544	Q8N139	ABCA6_HUMAN	S	544	ENSP00000284425:N544S	ENSP00000284425:N544S	N	-	2	0	ABCA6	64622649	0.040000	0.19996	0.981000	0.43875	0.840000	0.47671	0.127000	0.15790	2.169000	0.68431	0.528000	0.53228	AAT		0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		15	27	0	0	0	1	0	15	27				
ZNF429	353088	broad.mit.edu	37	19	21719871	21719871	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21719871A>C	ENST00000358491.4	+	4	1224	c.1016A>C	c.(1015-1017)aAa>aCa	p.K339T	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTGGTGAGAAACCCTACAAA	0.388																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1015-1017)aAa>aCa		zinc finger protein 429							36.0	40.0	39.0					19																	21719871		2153	4276	6429	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719871A>C	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1016A>C	19.37:g.21719871A>C	ENSP00000351280:p.Lys339Thr					ZNF429_ENST00000597078.1_Intron	p.K339T	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1224	+			339					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1016A>C	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	13.61	2.287144	0.40494	.	.	ENSG00000197013	ENST00000358491	T	0.24908	1.83	0.876	0.876	0.19138	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41581	0.1165	L	0.60845	1.875	0.30013	N	0.814994	D	0.69078	0.997	D	0.91635	0.999	T	0.33497	-0.9866	9	0.87932	D	0	.	6.7189	0.23318	1.0:0.0:0.0:0.0	.	339	Q86V71	ZN429_HUMAN	T	339	ENSP00000351280:K339T	ENSP00000351280:K339T	K	+	2	0	ZNF429	21511711	0.346000	0.24844	0.822000	0.32727	0.821000	0.46438	0.515000	0.22801	0.251000	0.21505	0.248000	0.18094	AAA		0.388	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		4	58	0	0	0	1	0	4	58				
CLEC14A	161198	broad.mit.edu	37	14	38724396	38724396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:38724396C>T	ENST00000342213.2	-	1	1178	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	278	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E278Q(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTCCCCAGCTCGAAGCCCGTA	0.672																																						ENST00000342213.2																			1	Substitution - Missense(1)	p.E278Q(1)	cervix(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(832-834)Gag>Aag		C-type lectin domain family 14, member A							54.0	60.0	58.0					14																	38724396		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724396C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.832G>A	14.37:g.38724396C>T	ENSP00000353013:p.Glu278Lys						p.E278K	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1178	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		278			EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.832G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	0.620	-0.821362	0.02755	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	D	0.95482	-3.72	3.91	-1.73	0.08081	Epidermal growth factor-like (1);	0.925114	0.08812	N	0.890179	D	0.86957	0.6058	N	0.19112	0.55	0.21719	N	0.999573	B	0.17465	0.022	B	0.11329	0.006	T	0.74873	-0.3516	10	0.10111	T	0.7	-4.2138	4.008	0.09610	0.1564:0.2864:0.46:0.0972	.	278	Q86T13	CLC14_HUMAN	K	278;43	ENSP00000353013:E278K	ENSP00000353013:E278K	E	-	1	0	CLEC14A	37794147	0.000000	0.05858	0.589000	0.28718	0.057000	0.15508	-0.683000	0.05179	-0.316000	0.08690	-0.218000	0.12543	GAG		0.672	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		46	90	0	0	0	1	0	46	90				
TIMP1	7076	broad.mit.edu	37	X	47444652	47444652	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47444652G>A	ENST00000218388.4	+	4	420	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	TIMP1_ENST00000377017.1_Missense_Mutation_p.V20I|TIMP1_ENST00000377018.2_Silent_p.S7S|SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000456754.2_Missense_Mutation_p.V84I|MIR4769_ENST00000584126.1_RNA	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	84	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						CATCCGGTTCGTCTACACCCC	0.562																																						ENST00000456754.2																			0				endometrium(1)|large_intestine(2)	3						c.(250-252)Gtc>Atc		TIMP metallopeptidase inhibitor 1							59.0	50.0	53.0					X																	47444652		2203	4300	6503	SO:0001583	missense	7076				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chrX:47444652G>A		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"""tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"""	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.250G>A	X.37:g.47444652G>A	ENSP00000218388:p.Val84Ile					SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.V84I|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377018.2_Silent_p.S7S|TIMP1_ENST00000377017.1_Missense_Mutation_p.V20I	p.V84I			P01033	TIMP1_HUMAN			4	325	+			84			NTR.		Q14252|Q9UCU1	Missense_Mutation	SNP	ENST00000218388.4	37	c.250G>A	CCDS14281.1	.	.	.	.	.	.	.	.	.	.	g	1.940	-0.443792	0.04604	.	.	ENSG00000102265	ENST00000218388;ENST00000456754;ENST00000377017	D;D;D	0.93906	-3.31;-3.31;-3.31	4.55	-4.31	0.03698	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	1.064110	0.07349	N	0.881994	T	0.79227	0.4410	N	0.04805	-0.155	0.18873	N	0.999988	B	0.09022	0.002	B	0.08055	0.003	T	0.71224	-0.4656	10	0.02654	T	1	.	7.1095	0.25382	0.2622:0.447:0.2908:0.0	.	84	P01033	TIMP1_HUMAN	I	84;84;20	ENSP00000218388:V84I;ENSP00000406671:V84I;ENSP00000366216:V20I	ENSP00000218388:V84I	V	+	1	0	TIMP1	47329596	0.000000	0.05858	0.003000	0.11579	0.988000	0.76386	-0.459000	0.06728	-0.855000	0.04125	0.579000	0.79373	GTC		0.562	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056423.1	NM_003254		5	33	0	0	0	1	0	5	33				
BRWD3	254065	broad.mit.edu	37	X	79947407	79947407	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79947407T>C	ENST00000373275.4	-	30	3612	c.3396A>G	c.(3394-3396)aaA>aaG	p.K1132K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1132					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTTCCTGGGGTTTGTATAGCA	0.448																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3394-3396)aaA>aaG		bromodomain and WD repeat domain containing 3							64.0	53.0	57.0					X																	79947407		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79947407T>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3396A>G	X.37:g.79947407T>C						BRWD3_ENST00000473691.1_5'UTR	p.K1132K	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			30	3612	-			1132					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.3396A>G	CCDS14447.1																																																																																				0.448	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		11	23	0	0	0	1	0	11	23				
ATP11C	286410	broad.mit.edu	37	X	138901568	138901568	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:138901568G>T	ENST00000327569.3	-	3	273	c.175C>A	c.(175-177)Ctc>Atc	p.L59I	ATP11C_ENST00000359686.2_Missense_Mutation_p.L59I|ATP11C_ENST00000361648.2_Missense_Mutation_p.L59I|ATP11C_ENST00000370557.1_Missense_Mutation_p.L56I|ATP11C_ENST00000370543.1_Missense_Mutation_p.L59I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	59					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTGGGAGAAAATTCCAA	0.323																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(166-168)Ctc>Atc		ATPase, class VI, type 11C							28.0	31.0	30.0					X																	138901568		2196	4278	6474	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138901568G>T	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.175C>A	X.37:g.138901568G>T	ENSP00000332756:p.Leu59Ile					ATP11C_ENST00000327569.3_Missense_Mutation_p.L59I|ATP11C_ENST00000370543.1_Missense_Mutation_p.L59I|ATP11C_ENST00000359686.2_Missense_Mutation_p.L59I|ATP11C_ENST00000361648.2_Missense_Mutation_p.L59I	p.L56I			Q8NB49	AT11C_HUMAN			3	1193	-	Acute lymphoblastic leukemia(192;0.000127)		59					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.166C>A	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	2.759	-0.258326	0.05791	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.21	5.21	0.72293	.	0.068462	0.64402	D	0.000012	T	0.33030	0.0849	N	0.12527	0.23	0.42006	D	0.990915	B;B	0.15719	0.014;0.008	B;B	0.21708	0.036;0.027	T	0.16837	-1.0389	10	0.25106	T	0.35	.	10.0795	0.42381	0.0:0.0:0.8005:0.1995	.	59;59	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	I	56;59;59;59;59	ENSP00000359588:L56I;ENSP00000355165:L59I;ENSP00000332756:L59I;ENSP00000359574:L59I;ENSP00000352715:L59I	ENSP00000332756:L59I	L	-	1	0	ATP11C	138729234	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.791000	0.55469	2.419000	0.82065	0.513000	0.50165	CTC		0.323	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		5	19	1	0	0.014758	1	0.015099	5	19				
ZNF804B	219578	broad.mit.edu	37	7	88389380	88389380	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88389380G>T	ENST00000333190.4	+	1	699	c.90G>T	c.(88-90)aaG>aaT	p.K30N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	30							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCCTGTGCAAGAACGGATCTC	0.502										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(88-90)aaG>aaT		zinc finger protein 804B							114.0	104.0	108.0					7																	88389380		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88389380G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.90G>T	7.37:g.88389380G>T	ENSP00000329638:p.Lys30Asn	HNSCC(36;0.09)					p.K30N	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		1	699	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		30					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.90G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747308	0.69533	.	.	ENSG00000182348	ENST00000333190	T	0.06933	3.24	5.08	4.2	0.49525	.	0.177242	0.27294	N	0.020034	T	0.13157	0.0319	N	0.24115	0.695	0.38312	D	0.94328	D	0.59767	0.986	P	0.62435	0.902	T	0.08472	-1.0720	10	0.56958	D	0.05	-10.9491	9.8194	0.40874	0.1557:0.0:0.8443:0.0	.	30	A4D1E1	Z804B_HUMAN	N	30	ENSP00000329638:K30N	ENSP00000329638:K30N	K	+	3	2	ZNF804B	88227316	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.348000	0.59379	1.375000	0.46248	-0.225000	0.12378	AAG		0.502	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		32	80	1	0	9.65021e-13	1	1.22324e-12	32	80				
COL11A1	1301	broad.mit.edu	37	1	103548435	103548435	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:103548435G>T	ENST00000370096.3	-	2	512	c.200C>A	c.(199-201)tCt>tAt	p.S67Y	COL11A1_ENST00000512756.1_Missense_Mutation_p.S67Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.S67Y|COL11A1_ENST00000358392.2_Missense_Mutation_p.S67Y	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	67					cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGAGCCTTTAGAATTCTTTCT	0.358																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(199-201)tCt>tAt		collagen, type XI, alpha 1							139.0	139.0	139.0					1																	103548435		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103548435G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.200C>A	1.37:g.103548435G>T	ENSP00000359114:p.Ser67Tyr					COL11A1_ENST00000370096.3_Missense_Mutation_p.S67Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.S67Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.S67Y	p.S67Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	2	517	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	67			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.200C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947221	0.73672	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.89552	-2.5;-2.49;-2.51;-2.53;-2.21	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.292710	0.34555	N	0.003863	D	0.93543	0.7939	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.60575	0.963;0.988;0.988;0.979	P;P;P;P	0.58331	0.692;0.837;0.837;0.692	D	0.93831	0.7128	10	0.87932	D	0	.	19.8365	0.96659	0.0:0.0:1.0:0.0	.	67;67;67;67	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	Y	67	ENSP00000359114:S67Y;ENSP00000351163:S67Y;ENSP00000302551:S67Y;ENSP00000426533:S67Y;ENSP00000408640:S67Y	ENSP00000302551:S67Y	S	-	2	0	COL11A1	103321023	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	9.869000	0.99810	2.694000	0.91930	0.467000	0.42956	TCT		0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		20	50	1	0	1.22574e-08	1	1.45102e-08	20	50				
CUZD1	50624	broad.mit.edu	37	10	124594383	124594383	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124594383C>A	ENST00000368904.1	-	9	2170	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	CUZD1_ENST00000545804.1_Missense_Mutation_p.K407N|CUZD1_ENST00000392790.1_Missense_Mutation_p.K407N					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAAGTATAGTCTTTTCAAATG	0.333																																						ENST00000368904.1																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39						c.(1219-1221)aaG>aaT		CUB and zona pellucida-like domains 1							99.0	89.0	92.0					10																	124594383		2203	4300	6503	SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124594383C>A	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1221G>T	10.37:g.124594383C>A	ENSP00000357900:p.Lys407Asn					CUZD1_ENST00000545804.1_Missense_Mutation_p.K407N|CUZD1_ENST00000392790.1_Missense_Mutation_p.K407N	p.K407N			Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	9	2170	-		all_neural(114;0.169)|Glioma(114;0.222)	407			ZP.			Missense_Mutation	SNP	ENST00000368904.1	37	c.1221G>T	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	4.087	0.014073	0.07959	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.82526	-1.62;-1.62;-1.62	5.03	-2.91	0.05631	Zona pellucida sperm-binding protein (3);	0.752615	0.12799	N	0.438154	T	0.53286	0.1787	N	0.04787	-0.16	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44452	-0.9327	10	0.12430	T	0.62	-8.395	0.2104	0.00155	0.3256:0.1421:0.2145:0.3178	.	407	Q86UP6	CUZD1_HUMAN	N	407;126;126;41;126;407;407	ENSP00000357900:K407N;ENSP00000441590:K407N;ENSP00000376540:K407N	ENSP00000340905:K41N	K	-	3	2	CUZD1	124584373	0.000000	0.05858	0.004000	0.12327	0.512000	0.34134	-1.164000	0.03135	-0.333000	0.08476	0.460000	0.39030	AAG		0.333	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		8	25	1	0	1.06961e-07	1	1.24214e-07	8	25				
TTLL2	83887	broad.mit.edu	37	6	167755167	167755167	+	Nonstop_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:167755167A>C	ENST00000239587.5	+	3	1867	c.1779A>C	c.(1777-1779)taA>taC	p.*593Y		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	0					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AACATTCCTAAGTGGTAAAAA	0.373																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1777-1779)taA>taC		tubulin tyrosine ligase-like family, member 2							21.0	23.0	23.0					6																	167755167		2194	4292	6486	SO:0001578	stop_lost	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167755167A>C	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1779A>C	6.37:g.167755167A>C	ENSP00000239587:p.*593Tyrext*10						p.*593Y	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1867	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	0					B2RB11|B3KS77|Q7Z6R8|Q86X22	Nonstop_Mutation	SNP	ENST00000239587.5	37	c.1779A>C	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	A	1.535	-0.543347	0.04053	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	.	.	.	4.04	-1.64	0.08318	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1103	0.03701	0.2499:0.4328:0.1766:0.1407	.	.	.	.	Y	593;520	.	.	X	+	3	2	TTLL2	167675157	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.381000	0.20619	-0.499000	0.06623	-0.669000	0.03829	TAA		0.373	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		4	25	0	0	0	1	0	4	25				
SIX1	6495	broad.mit.edu	37	14	61115666	61115666	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61115666G>T	ENST00000247182.6	-	1	514	c.242C>A	c.(241-243)cCc>cAc	p.P81H	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	81					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CTGCAGTTTGGGGTGGTTGTG	0.627																																						ENST00000247182.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(241-243)cCc>cAc		SIX homeobox 1							144.0	143.0	143.0					14																	61115666		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115666G>T	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.242C>A	14.37:g.61115666G>T	ENSP00000247182:p.Pro81His					SIX1_ENST00000554986.1_Intron	p.P81H	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	514	-			81					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.242C>A	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986212	0.93044	.	.	ENSG00000126778	ENST00000247182	D	0.87491	-2.26	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.76002	2.32	0.80722	D	1	B	0.23442	0.085	B	0.22601	0.04	D	0.85208	0.1019	10	0.72032	D	0.01	-21.6295	19.6964	0.96028	0.0:0.0:1.0:0.0	.	81	Q15475	SIX1_HUMAN	H	81	ENSP00000247182:P81H	ENSP00000247182:P81H	P	-	2	0	SIX1	60185419	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.782000	0.75073	2.748000	0.94277	0.655000	0.94253	CCC		0.627	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			69	162	1	0	9.68594e-22	1	1.33983e-21	69	162				
ZXDA	7789	broad.mit.edu	37	X	57935107	57935107	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:57935107G>T	ENST00000358697.4	-	1	1960	c.1748C>A	c.(1747-1749)tCt>tAt	p.S583Y		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	583	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGGTGTAAGAGAATTTGCTGC	0.453																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(1747-1749)tCt>tAt		zinc finger, X-linked, duplicated A							183.0	156.0	165.0					X																	57935107		2186	4296	6482	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935107G>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1748C>A	X.37:g.57935107G>T	ENSP00000351530:p.Ser583Tyr						p.S583Y	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1960	-			583			Required for transcriptional activation.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.1748C>A	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	15.76	2.928739	0.52759	.	.	ENSG00000198205	ENST00000358697	T	0.10382	2.88	3.15	3.15	0.36227	.	0.248814	0.40385	N	0.001106	T	0.22360	0.0539	L	0.61218	1.895	0.47276	D	0.99937	P	0.51147	0.942	P	0.57324	0.818	T	0.00998	-1.1486	9	.	.	.	.	11.4162	0.49954	0.0:0.0:1.0:0.0	.	583	P98168	ZXDA_HUMAN	Y	583	ENSP00000351530:S583Y	.	S	-	2	0	ZXDA	57951832	1.000000	0.71417	0.955000	0.39395	0.954000	0.61252	4.293000	0.59037	1.827000	0.53221	0.415000	0.27848	TCT		0.453	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		46	98	1	0	2.24722e-20	1	3.07898e-20	46	98				
RGS22	26166	broad.mit.edu	37	8	101117607	101117607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:101117607C>A	ENST00000360863.6	-	2	243	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	RGS22_ENST00000523287.1_5'UTR|RGS22_ENST00000523437.1_Nonsense_Mutation_p.E17*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	17					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E17*(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTACAAATTCTTCTTCTGTA	0.328																																						ENST00000360863.6																		RGS22/SYCP1(2)	2	Substitution - Nonsense(2)	p.E17*(2)	large_intestine(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(49-51)Gaa>Taa		regulator of G-protein signaling 22							94.0	98.0	97.0					8																	101117607		1823	4076	5899	SO:0001587	stop_gained	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101117607C>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.49G>T	8.37:g.101117607C>A	ENSP00000354109:p.Glu17*					RGS22_ENST00000523437.1_Nonsense_Mutation_p.E17*|RGS22_ENST00000523287.1_5'UTR	p.E17*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		2	243	-			17					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Nonsense_Mutation	SNP	ENST00000360863.6	37	c.49G>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	c	33	5.194701	0.94960	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437	.	.	.	4.96	4.05	0.47172	.	1.402410	0.04637	N	0.404745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.8233	0.29300	0.0:0.8791:0.0:0.1209	.	.	.	.	X	17	.	ENSP00000354109:E17X	E	-	1	0	RGS22	101186783	0.594000	0.26849	0.817000	0.32601	0.974000	0.67602	2.115000	0.41921	1.212000	0.43366	0.651000	0.88453	GAA		0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		19	26	1	0	1.15919e-05	1	1.28007e-05	19	26				
FAM193B	54540	broad.mit.edu	37	5	176951478	176951478	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176951478G>A	ENST00000514747.1	-	6	2052	c.2004C>T	c.(2002-2004)gtC>gtT	p.V668V	FAM193B_ENST00000329540.5_Silent_p.V294V|FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000443375.2_Silent_p.V635V	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	748						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TGGGGCCAGCGACCTGGCCCT	0.682																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(880-882)gtC>gtT		family with sequence similarity 193, member B							14.0	16.0	15.0					5																	176951478		1894	4108	6002	SO:0001819	synonymous_variant	54540							g.chr5:176951478G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.2004C>T	5.37:g.176951478G>A						FAM193B_ENST00000514747.1_Silent_p.V668V|FAM193B_ENST00000443375.2_Silent_p.V635V	p.V294V			Q6IPW0	Q6IPW0_HUMAN			9	3711	-			344					E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	37	c.882C>T	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.560761	0.00910	.	.	ENSG00000146067	ENST00000524677	.	.	.	5.71	0.223	0.15292	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25606	-1.0127	4	.	.	.	6.8366	4.5867	0.12285	0.1601:0.3858:0.3636:0.0905	.	.	.	.	C	354	.	.	R	-	1	0	FAM193B	176884084	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.029000	0.12329	0.325000	0.23359	-0.347000	0.07816	CGC		0.682	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		9	20	0	0	0	1	0	9	20				
GLB1L3	112937	broad.mit.edu	37	11	134183838	134183838	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134183838T>C	ENST00000431683.2	+	17	1583	c.1583T>C	c.(1582-1584)aTa>aCa	p.I528T		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	528					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCTGCAGGAATAACTGGATCT	0.468																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1582-1584)aTa>aCa		galactosidase, beta 1-like 3							75.0	72.0	73.0					11																	134183838		1930	4133	6063	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134183838T>C		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1583T>C	11.37:g.134183838T>C	ENSP00000396615:p.Ile528Thr						p.I528T	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	17	1583	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	528					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1583T>C	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	T	7.992	0.753484	0.15778	.	.	ENSG00000166105	ENST00000431683	D	0.94793	-3.52	4.78	4.78	0.61160	Galactose-binding domain-like (1);	0.724443	0.12833	N	0.435442	D	0.96867	0.8977	M	0.87758	2.905	0.09310	N	1	P	0.52061	0.95	P	0.58210	0.835	D	0.91868	0.5505	10	0.87932	D	0	.	12.2076	0.54361	0.0:0.0:0.0:1.0	.	528	Q8NCI6	GLBL3_HUMAN	T	528	ENSP00000396615:I528T	ENSP00000396615:I528T	I	+	2	0	GLB1L3	133689048	0.213000	0.23551	0.003000	0.11579	0.008000	0.06430	4.653000	0.61462	2.126000	0.65437	0.460000	0.39030	ATA		0.468	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		11	14	0	0	0	1	0	11	14				
TTN	7273	broad.mit.edu	37	2	179588843	179588843	+	Missense_Mutation	SNP	C	C	T	rs148072021		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179588843C>T	ENST00000591111.1	-	71	20416	c.20192G>A	c.(20191-20193)cGa>cAa	p.R6731Q	TTN_ENST00000589042.1_Missense_Mutation_p.R7048Q|TTN_ENST00000342992.6_Missense_Mutation_p.R5804Q|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12356	Ig-like 49.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R5804L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGTCTTCGTGTGAAAGA	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22283	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			1	Substitution - Missense(1)	p.R5804L(1)	lung(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(21142-21144)cGa>cAa		titin							57.0	53.0	54.0					2																	179588843		1879	4111	5990	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588843C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20192G>A	2.37:g.179588843C>T	ENSP00000465570:p.Arg6731Gln					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5804Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R6731Q	p.R7048Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		73	21367	-			6731			Ig-like 52.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21143G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.32	3.360186	0.61403	.	.	ENSG00000155657	ENST00000342992	T	0.64260	-0.09	6.02	6.02	0.97574	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66356	0.2781	L	0.41492	1.28	0.80722	D	1	D	0.69078	0.997	P	0.55545	0.778	T	0.68243	-0.5460	9	0.87932	D	0	.	13.7	0.62602	0.0:0.93:0.0:0.07	.	6731	Q8WZ42	TITIN_HUMAN	Q	5804	ENSP00000343764:R5804Q	ENSP00000343764:R5804Q	R	-	2	0	TTN	179297088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.907000	0.48743	2.865000	0.98341	0.655000	0.94253	CGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	15	0	0	0	1	0	9	15				
SLC35F1	222553	broad.mit.edu	37	6	118228913	118228913	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118228913G>A	ENST00000360388.4	+	1	225	c.24G>A	c.(22-24)caG>caA	p.Q8Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	8					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AGCAGCCGCAGCAGCAGCTGC	0.741																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(22-24)caG>caA		solute carrier family 35, member F1							9.0	12.0	11.0					6																	118228913		1499	3306	4805	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118228913G>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.24G>A	6.37:g.118228913G>A							p.Q8Q	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	1	225	+			8					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.24G>A	CCDS34524.1																																																																																				0.741	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		12	11	0	0	0	1	0	12	11				
EXOC1	55763	broad.mit.edu	37	4	56738059	56738059	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56738059A>G	ENST00000381295.2	+	8	1357	c.1009A>G	c.(1009-1011)Agt>Ggt	p.S337G	EXOC1_ENST00000346134.7_Missense_Mutation_p.S337G|EXOC1_ENST00000349598.6_Missense_Mutation_p.S337G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	337					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCAGCGATTCAGTGATTTGCG	0.413																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1009-1011)Agt>Ggt		exocyst complex component 1							96.0	96.0	96.0					4																	56738059		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56738059A>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1009A>G	4.37:g.56738059A>G	ENSP00000370695:p.Ser337Gly					EXOC1_ENST00000346134.7_Missense_Mutation_p.S337G|EXOC1_ENST00000349598.6_Missense_Mutation_p.S337G	p.S337G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			8	1357	+	Glioma(25;0.08)|all_neural(26;0.101)		337					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1009A>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	6.528	0.465579	0.12402	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	6.06	0.932	0.19466	.	0.519860	0.24530	N	0.037739	T	0.51736	0.1692	L	0.47716	1.5	0.42382	D	0.992495	B;B	0.13594	0.008;0.0	B;B	0.18561	0.022;0.0	T	0.46414	-0.9193	9	0.45353	T	0.12	.	10.4599	0.44572	0.6829:0.0:0.3171:0.0	.	337;337	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	G	337	.	ENSP00000326514:S337G	S	+	1	0	EXOC1	56432816	0.087000	0.21565	0.564000	0.28396	0.002000	0.02628	0.529000	0.23019	0.170000	0.19704	-0.263000	0.10527	AGT		0.413	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		25	45	0	0	0	1	0	25	45				
RYR3	6263	broad.mit.edu	37	15	34080594	34080594	+	Silent	SNP	C	C	T	rs368742527		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34080594C>T	ENST00000389232.4	+	67	9835	c.9765C>T	c.(9763-9765)ttC>ttT	p.F3255F	RYR3_ENST00000415757.3_Silent_p.F3255F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3255					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGACGAGTTCGCGGTCCTCT	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9763-9765)ttC>ttT		ryanodine receptor 3							77.0	82.0	81.0					15																	34080594		2034	4196	6230	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080594C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9765C>T	15.37:g.34080594C>T						RYR3_ENST00000415757.3_Silent_p.F3255F	p.F3255F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	67	9835	+		all_lung(180;7.18e-09)	3255					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9765C>T	CCDS45210.1																																																																																				0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			32	74	0	0	0	1	0	32	74				
VPRBP	9730	broad.mit.edu	37	3	51500889	51500889	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51500889C>T	ENST00000335891.5	-	3	200	c.191G>A	c.(190-192)cGa>cAa	p.R64Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	64					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGATCAGCTCGACCTACCAA	0.453																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(190-192)cGa>cAa		Vpr (HIV-1) binding protein							78.0	75.0	76.0					3																	51500889		1931	4145	6076	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51500889C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.191G>A	3.37:g.51500889C>T	ENSP00000338857:p.Arg64Gln						p.R64Q			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	3	200	-			64					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.191G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.589561	0.96590	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.64991	-0.13;0.31	5.7	5.7	0.88788	.	0.058489	0.64402	N	0.000002	T	0.79724	0.4495	M	0.74467	2.265	0.35964	D	0.834844	D	0.69078	0.997	D	0.69479	0.964	D	0.84509	0.0621	10	0.87932	D	0	-2.2852	19.4156	0.94697	0.0:1.0:0.0:0.0	.	64	Q9Y4B6	VPRBP_HUMAN	Q	64	ENSP00000338857:R64Q;ENSP00000421724:R64Q	ENSP00000338857:R64Q	R	-	2	0	VPRBP	51475929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.219000	0.78000	2.686000	0.91538	0.591000	0.81541	CGA		0.453	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		20	21	0	0	0	1	0	20	21				
SSPO	23145	broad.mit.edu	37	7	149495167	149495167	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:149495167G>T	ENST00000378016.2	+	0	6915							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGGCAGAGACTGAGCACT	0.667																																						ENST00000378016.2																			0													SCO-spondin							50.0	62.0	58.0					7																	149495167		2025	4176	6201			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149495167G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149495167G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6915	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				23	34	1	0	1.85244e-09	1	2.22951e-09	23	34				
CPXCR1	53336	broad.mit.edu	37	X	88009147	88009147	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:88009147T>C	ENST00000276127.4	+	3	991	c.732T>C	c.(730-732)atT>atC	p.I244I	CPXCR1_ENST00000373111.1_Silent_p.I244I	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	244							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGATACAAATTGAAAGTATTT	0.318																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(730-732)atT>atC		CPX chromosome region, candidate 1							35.0	31.0	33.0					X																	88009147		2202	4299	6501	SO:0001819	synonymous_variant	53336					intracellular	zinc ion binding	g.chrX:88009147T>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.732T>C	X.37:g.88009147T>C						CPXCR1_ENST00000373111.1_Silent_p.I244I	p.I244I	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	991	+			244					B2R9F9|D3DTE7|Q96RS3	Silent	SNP	ENST00000276127.4	37	c.732T>C	CCDS14458.1																																																																																				0.318	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		8	4	0	0	0	1	0	8	4				
SLC9A4	389015	broad.mit.edu	37	2	103121726	103121726	+	Missense_Mutation	SNP	G	G	A	rs369636879		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:103121726G>A	ENST00000295269.4	+	4	1451	c.994G>A	c.(994-996)Gca>Aca	p.A332T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	332					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CACAGCCTGCGCAGTAACAAT	0.483																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(994-996)Gca>Aca		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4		G	THR/ALA	0,4406		0,0,2203	95.0	82.0	87.0		994	5.4	0.2	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A4	NM_001011552.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	332/799	103121726	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103121726G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.994G>A	2.37:g.103121726G>A	ENSP00000295269:p.Ala332Thr						p.A332T	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			4	1451	+			332					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.994G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266361	0.80358	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.15952	2.38	5.38	5.38	0.77491	Cation/H+ exchanger (1);	0.049983	0.85682	D	0.000000	T	0.32763	0.0840	L	0.58583	1.82	0.51767	D	0.999932	D	0.67145	0.996	P	0.54210	0.745	T	0.01819	-1.1267	10	0.62326	D	0.03	.	18.4693	0.90767	0.0:0.0:1.0:0.0	.	332	Q6AI14	SL9A4_HUMAN	T	332	ENSP00000295269:A332T	ENSP00000295269:A332T	A	+	1	0	SLC9A4	102488158	1.000000	0.71417	0.196000	0.23383	0.732000	0.41865	6.492000	0.73654	2.687000	0.91594	0.484000	0.47621	GCA		0.483	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		9	22	0	0	0	1	0	9	22				
TMC1	117531	broad.mit.edu	37	9	75445593	75445593	+	Missense_Mutation	SNP	G	G	A	rs191912512		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:75445593G>A	ENST00000297784.5	+	23	2795	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q	TMC1_ENST00000340019.3_Missense_Mutation_p.R752Q|TMC1_ENST00000396237.3_Missense_Mutation_p.R752Q|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	752	Poly-Ala.				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCAGCTGCACGAGCAGGTTGG	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		14423	0.001		0.0	False		,,,				2504	0.0				Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2254-2256)cGa>cAa		transmembrane channel-like 1							78.0	87.0	84.0					9																	75445593		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75445593G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2255G>A	9.37:g.75445593G>A	ENSP00000297784:p.Arg752Gln					TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.R752Q|TMC1_ENST00000340019.3_Missense_Mutation_p.R752Q	p.R752Q	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			23	2795	+			752			Poly-Ala.		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.2255G>A	CCDS6643.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.00	3.277679	0.59758	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.67523	-0.27;-0.27;-0.27	5.07	5.07	0.68467	.	0.214725	0.31601	N	0.007364	T	0.40979	0.1139	N	0.21194	0.64	0.25521	N	0.987362	P	0.49253	0.921	B	0.34489	0.184	T	0.49679	-0.8914	10	0.02654	T	1	-3.8772	11.4237	0.49998	0.0821:0.0:0.9179:0.0	.	752	Q8TDI8	TMC1_HUMAN	Q	752;752;719;746;752	ENSP00000297784:R752Q;ENSP00000341433:R752Q;ENSP00000379538:R752Q	ENSP00000297784:R752Q	R	+	2	0	TMC1	74635413	1.000000	0.71417	0.968000	0.41197	0.931000	0.56810	3.979000	0.56888	2.790000	0.95986	0.650000	0.86243	CGA		0.323	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			9	17	0	0	0	1	0	9	17				
STK32A	202374	broad.mit.edu	37	5	146722600	146722600	+	Missense_Mutation	SNP	G	G	A	rs375612505		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:146722600G>A	ENST00000397936.3	+	6	799	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	STK32A_ENST00000398521.3_Missense_Mutation_p.E156K|STK32A_ENST00000398523.3_Missense_Mutation_p.E156K|STK32A_ENST00000541094.1_Missense_Mutation_p.E156K	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTACTTGACGAACATGGTAA	0.373																																						ENST00000397936.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(466-468)Gaa>Aaa		serine/threonine kinase 32A		G	LYS/GLU,LYS/GLU	0,3686		0,0,1843	171.0	159.0	163.0		466,466	5.9	1.0	5		163	2,8188		0,2,4093	no	missense,missense	STK32A	NM_001112724.1,NM_145001.3	56,56	0,2,5936	AA,AG,GG		0.0244,0.0,0.0168	probably-damaging,probably-damaging	156/397,156/167	146722600	2,11874	1843	4095	5938	SO:0001583	missense	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146722600G>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.466G>A	5.37:g.146722600G>A	ENSP00000381030:p.Glu156Lys					STK32A_ENST00000398523.3_Missense_Mutation_p.E156K|STK32A_ENST00000541094.1_Missense_Mutation_p.E156K|STK32A_ENST00000398521.3_Missense_Mutation_p.E156K	p.E156K	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	799	+			156			Protein kinase.		B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	37	c.466G>A	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792934	0.90453	0.0	2.44E-4	ENSG00000169302	ENST00000397936;ENST00000541094;ENST00000398521;ENST00000398523	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000282	T	0.62085	0.2399	N	0.11284	0.12	0.54753	D	0.999982	D;D;D;D	0.76494	0.999;0.994;0.999;0.997	D;P;D;P	0.71870	0.975;0.803;0.942;0.871	T	0.62581	-0.6824	10	0.30078	T	0.28	.	15.7267	0.77766	0.0:0.0:1.0:0.0	.	156;156;156;156	B7Z9H7;Q8WU08;Q8WU08-3;Q8WU08-2	.;ST32A_HUMAN;.;.	K	156	ENSP00000381030:E156K;ENSP00000443156:E156K;ENSP00000381533:E156K;ENSP00000381535:E156K	ENSP00000381030:E156K	E	+	1	0	STK32A	146702793	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.116000	0.71571	2.769000	0.95229	0.655000	0.94253	GAA		0.373	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		27	57	0	0	0	1	0	27	57				
MUC4	4585	broad.mit.edu	37	3	195505212	195505212	+	Missense_Mutation	SNP	C	C	T	rs141462807	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195505212C>T	ENST00000346145.4	-	2	236	c.197G>A	c.(196-198)cGc>cAc	p.R66H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.R4302H|MUC4_ENST00000463781.3_Missense_Mutation_p.R4302H	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1059					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTGTGGAGCGGGTGTGCAT	0.597													.|||	2	0.000399361	0.0015	0.0	5008	,	,		10361	0.0		0.0	False		,,,				2504	0.0					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12904-12906)cGc>cAc		mucin 4, cell surface associated		C	,HIS/ARG,HIS/ARG	3,4397	6.2+/-15.9	0,3,2197	182.0	139.0	153.0		,12905,197	-3.5	0.0	3	dbSNP_134	153	0,8596		0,0,4298	yes	intron,missense,missense	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,29,29	0,3,6495	TT,TC,CC		0.0,0.0682,0.0231	,benign,benign	,4302/5413,66/1177	195505212	3,12993	2200	4298	6498	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505212C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.197G>A	3.37:g.195505212C>T	ENSP00000304207:p.Arg66His					MUC4_ENST00000346145.4_Missense_Mutation_p.R66H|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.R4302H	p.R4302H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	13364	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1059					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.12905G>A	CCDS3310.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	12.11	1.840177	0.32513	6.82E-4	0.0	ENSG00000145113	ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T	0.33438	1.47;1.42;1.41	3.1	-3.54	0.04653	.	2.930770	0.01484	N	0.016787	T	0.17619	0.0423	L	0.29908	0.895	0.09310	N	1	B;P;B	0.35401	0.054;0.499;0.054	B;B;B	0.20384	0.006;0.029;0.01	T	0.13656	-1.0501	10	0.14656	T	0.56	0.1586	9.1627	0.37032	0.0:0.2299:0.0:0.7701	.	4174;1059;66	E7ESK3;Q99102;Q99102-13	.;MUC4_HUMAN;.	H	66;4302;4302;1028	ENSP00000304207:R66H;ENSP00000417498:R4302H;ENSP00000420243:R4302H	ENSP00000304207:R66H	R	-	2	0	MUC4	196989991	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.504000	0.00449	-0.833000	0.04245	-0.385000	0.06624	CGC		0.597	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		23	43	0	0	0	1	0	23	43				
COLEC10	10584	broad.mit.edu	37	8	120079578	120079578	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:120079578C>A	ENST00000332843.2	+	1	99	c.58C>A	c.(58-60)Ctt>Att	p.L20I	RP11-278I4.2_ENST00000518362.1_RNA|COLEC10_ENST00000521788.1_Intron	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	20						collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGTACTATTTCTTTTGCAAAT	0.453																																						ENST00000332843.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(58-60)Ctt>Att		collectin sub-family member 10 (C-type lectin)							101.0	96.0	98.0					8																	120079578		2203	4300	6503	SO:0001583	missense	10584					collagen|cytoplasm	mannose binding	g.chr8:120079578C>A	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.58C>A	8.37:g.120079578C>A	ENSP00000332723:p.Leu20Ile					COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA	p.L20I	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		1	99	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		20					Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.58C>A	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211936	0.39102	.	.	ENSG00000184374	ENST00000332843	D	0.96427	-4.01	5.72	5.72	0.89469	.	0.062950	0.64402	D	0.000008	D	0.91126	0.7206	N	0.19112	0.55	0.30432	N	0.777079	B	0.32467	0.372	B	0.29267	0.1	D	0.87194	0.2236	10	0.23302	T	0.38	-15.0621	13.7429	0.62857	0.1535:0.8465:0.0:0.0	.	20	Q9Y6Z7	COL10_HUMAN	I	20	ENSP00000332723:L20I	ENSP00000332723:L20I	L	+	1	0	COLEC10	120148759	0.998000	0.40836	0.997000	0.53966	0.628000	0.37860	1.056000	0.30480	2.709000	0.92574	0.563000	0.77884	CTT		0.453	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			16	32	1	0	3.45872e-05	1	3.78815e-05	16	32				
CNTNAP4	85445	broad.mit.edu	37	16	76592493	76592493	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:76592493G>T	ENST00000476707.1	+	23	3988	c.3849G>T	c.(3847-3849)gaG>gaT	p.E1283D	RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.E1279D|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E1231D|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E1207D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1280					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAAGGTCAGAGAATGTAGACA	0.373																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(3835-3837)gaG>gaT		contactin associated protein-like 4							83.0	81.0	81.0					16																	76592493		1906	4168	6074	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76592493G>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3849G>T	16.37:g.76592493G>T	ENSP00000417628:p.Glu1283Asp					CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E1207D|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E1283D|CNTNAP4_ENST00000469589.1_3'UTR|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E1231D	p.E1279D	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			25	4222	+			1280					E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3837G>T		.	.	.	.	.	.	.	.	.	.	G	15.88	2.964090	0.53507	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.89123	-2.33;-2.43;-2.42;-2.47	5.65	3.59	0.41128	.	0.000000	0.41712	D	0.000824	D	0.89451	0.6719	.	.	.	0.37359	D	0.911126	P;D;P	0.54964	0.749;0.969;0.862	B;P;B	0.55011	0.437;0.766;0.37	D	0.89277	0.3609	9	0.49607	T	0.09	.	4.6464	0.12574	0.3779:0.0:0.622:0.0	.	1207;1283;1280	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	D	1279;1231;1207;1283	ENSP00000306893:E1279D;ENSP00000439733:E1231D;ENSP00000418741:E1207D;ENSP00000417628:E1283D	ENSP00000306893:E1279D	E	+	3	2	CNTNAP4	75149994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.398000	0.52579	1.627000	0.50400	0.655000	0.94253	GAG		0.373	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		13	21	1	0	4.3838e-07	1	4.998e-07	13	21				
SLC24A4	123041	broad.mit.edu	37	14	92958061	92958061	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92958061C>T	ENST00000532405.1	+	15	1816	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	SLC24A4_ENST00000531433.1_Silent_p.I511I|SLC24A4_ENST00000298877.1_Silent_p.I513I|SLC24A4_ENST00000351924.5_Silent_p.I494I|SLC24A4_ENST00000393265.2_Silent_p.I466I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	530					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGTTTGACATCCTGGTAGGAC	0.468																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(1588-1590)atC>atT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							193.0	165.0	174.0					14																	92958061		2203	4300	6503	SO:0001819	synonymous_variant	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92958061C>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1590C>T	14.37:g.92958061C>T						SLC24A4_ENST00000298877.1_Silent_p.I513I|SLC24A4_ENST00000393265.2_Silent_p.I466I|SLC24A4_ENST00000531433.1_Silent_p.I511I|SLC24A4_ENST00000351924.5_Silent_p.I494I	p.I530I			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	15	1816	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	530					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	c.1590C>T	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068484	0.20067	.	.	ENSG00000140090	ENST00000525557	.	.	.	5.56	4.67	0.58626	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57528	-0.7796	4	.	.	.	.	9.1436	0.36919	0.0:0.7906:0.0:0.2094	.	.	.	.	S	396	.	.	P	+	1	0	SLC24A4	92027814	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	0.837000	0.27558	1.345000	0.45676	0.561000	0.74099	CCT		0.468	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		4	63	0	0	0	1	0	4	63				
GPAT2	150763	broad.mit.edu	37	2	96690545	96690545	+	Silent	SNP	C	C	T	rs370104470		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96690545C>T	ENST00000434632.1	-	15	1863	c.1404G>A	c.(1402-1404)acG>acA	p.T468T	GPAT2_ENST00000359548.4_Silent_p.T468T|GPAT2_ENST00000453542.1_Silent_p.T397T|GPAT2_ENST00000377137.3_Silent_p.T468T|FAHD2CP_ENST00000607780.1_RNA			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	468					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AGAGCAGCAGCGTTGCCATAA	0.657																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1402-1404)acG>acA		glycerol-3-phosphate acyltransferase 2, mitochondrial		C		1,4105		0,1,2052	120.0	128.0	126.0		1404	-6.6	0.4	2		126	0,8364		0,0,4182	no	coding-synonymous	GPAT2	NM_207328.2		0,1,6234	TT,TC,CC		0.0,0.0244,0.0080		468/796	96690545	1,12469	2053	4182	6235	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690545C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1404G>A	2.37:g.96690545C>T						GPAT2_ENST00000453542.1_Silent_p.T397T|GPAT2_ENST00000359548.4_Silent_p.T468T|GPAT2_ENST00000377137.3_Silent_p.T468T	p.T468T			Q6NUI2	GPAT2_HUMAN			15	1863	-			468					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1404G>A	CCDS42714.1																																																																																				0.657	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		80	166	0	0	0	1	0	80	166				
USP36	57602	broad.mit.edu	37	17	76799474	76799474	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:76799474G>A	ENST00000542802.3	-	16	3246	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	USP36_ENST00000312010.6_Missense_Mutation_p.R935W|USP36_ENST00000449938.2_Missense_Mutation_p.R540W			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	935					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TACCTGTGCCGAAGTGGGTCC	0.562																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2803-2805)Cgg>Tgg		ubiquitin specific peptidase 36							61.0	57.0	58.0					17																	76799474		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76799474G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2803C>T	17.37:g.76799474G>A	ENSP00000441214:p.Arg935Trp					USP36_ENST00000542802.2_Missense_Mutation_p.R935W|USP36_ENST00000449938.2_Missense_Mutation_p.R540W	p.R935W	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		16	3127	-			935					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.2803C>T	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536744	0.65085	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.18502	3.25;2.21;3.25	5.22	-2.41	0.06562	.	1.502310	0.03310	N	0.190401	T	0.07279	0.0184	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37291	-0.9712	10	0.37606	T	0.19	0.0644	13.594	0.61978	0.3207:0.0:0.6793:0.0	.	935;935	Q9P275;Q9P275-2	UBP36_HUMAN;.	W	935;540;935	ENSP00000310590:R935W;ENSP00000401119:R540W;ENSP00000441214:R935W	ENSP00000310590:R935W	R	-	1	2	USP36	74311069	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-1.103000	0.03329	-0.903000	0.03881	-0.254000	0.11334	CGG		0.562	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		19	50	0	0	0	1	0	19	50				
CFAP43	80217	broad.mit.edu	37	10	105907729	105907729	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105907729A>G	ENST00000357060.3	-	29	3803	c.3688T>C	c.(3688-3690)Ttt>Ctt	p.F1230L	WDR96_ENST00000428666.1_Missense_Mutation_p.F1231L	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AATAAAGAAAATGCAAGGTTA	0.338																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3688-3690)Ttt>Ctt		WD repeat domain 96							82.0	81.0	81.0					10																	105907729		2200	4299	6499	SO:0001583	missense	80217							g.chr10:105907729A>G																												ENST00000357060.3:c.3688T>C	10.37:g.105907729A>G	ENSP00000349568:p.Phe1230Leu					WDR96_ENST00000428666.1_Missense_Mutation_p.F1231L	p.F1230L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			29	3803	-			1230						Missense_Mutation	SNP	ENST00000357060.3	37	c.3688T>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370944	0.42003	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.13307	2.63;2.6	6.07	6.07	0.98685	.	0.449602	0.26546	N	0.023771	T	0.11836	0.0288	L	0.33189	0.99	0.31465	N	0.669114	B;B	0.16166	0.004;0.016	B;B	0.17722	0.007;0.019	T	0.11891	-1.0569	10	0.11485	T	0.65	.	15.6232	0.76824	1.0:0.0:0.0:0.0	.	1231;1230	G5E9L1;Q8NDM7	.;WDR96_HUMAN	L	1230;1231	ENSP00000349568:F1230L;ENSP00000400289:F1231L	ENSP00000349568:F1230L	F	-	1	0	WDR96	105897719	1.000000	0.71417	0.892000	0.35008	0.556000	0.35491	4.809000	0.62591	2.326000	0.78906	0.533000	0.62120	TTT		0.338	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	21	0	0	0	1	0	7	21				
DPY19L4	286148	broad.mit.edu	37	8	95800138	95800138	+	Nonsense_Mutation	SNP	C	C	A	rs547862125		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95800138C>A	ENST00000414645.2	+	18	1964	c.1865C>A	c.(1864-1866)tCa>tAa	p.S622*		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	622						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CAAATCTATTCAAAGCGATCT	0.279													C|||	1	0.000199681	0.0	0.0	5008	,	,		8316	0.0		0.001	False		,,,				2504	0.0					ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(1864-1866)tCa>tAa		dpy-19-like 4 (C. elegans)							36.0	38.0	37.0					8																	95800138		2198	4298	6496	SO:0001587	stop_gained	286148					integral to membrane		g.chr8:95800138C>A		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1865C>A	8.37:g.95800138C>A	ENSP00000389630:p.Ser622*						p.S622*	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			18	1964	+	Breast(36;3.85e-06)		622					Q6ZW32|Q6ZW42|Q7Z329	Nonsense_Mutation	SNP	ENST00000414645.2	37	c.1865C>A	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	C	38	6.640052	0.97726	.	.	ENSG00000156162	ENST00000414645	.	.	.	4.92	4.02	0.46733	.	0.401786	0.25400	N	0.030945	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0966	10.5618	0.45150	0.1501:0.7054:0.1445:0.0	.	.	.	.	X	622	.	ENSP00000389630:S622X	S	+	2	0	DPY19L4	95869314	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.223000	0.58587	1.160000	0.42584	0.585000	0.79938	TCA		0.279	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		8	27	1	0	1.76689e-08	1	2.08373e-08	8	27				
MAEL	84944	broad.mit.edu	37	1	166974561	166974561	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166974561C>A	ENST00000367872.4	+	8	1016	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L227I|RNA5SP65_ENST00000363166.1_RNA	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	258					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAAAATTTCTCAAGGAGCC	0.398																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(772-774)Ctc>Atc		maelstrom spermatogenic transposon silencer							73.0	78.0	76.0					1																	166974561		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166974561C>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.772C>A	1.37:g.166974561C>A	ENSP00000356846:p.Leu258Ile					MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L227I	p.L258I	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			8	1016	+			258					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.772C>A	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825645	0.32237	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.47869	0.85;0.83;0.85	5.66	4.75	0.60458	.	0.324591	0.26193	N	0.025795	T	0.13927	0.0337	N	0.08118	0	0.23765	N	0.996906	B;B	0.32071	0.301;0.355	B;B	0.38225	0.209;0.268	T	0.05920	-1.0856	10	0.42905	T	0.14	.	7.8331	0.29355	0.0:0.7505:0.1634:0.086	.	227;258	E9JVC3;Q96JY0	.;MAEL_HUMAN	I	258;227;227	ENSP00000356846:L258I;ENSP00000356844:L227I;ENSP00000402143:L227I	ENSP00000356844:L227I	L	+	1	0	MAEL	165241185	0.611000	0.26992	0.982000	0.44146	0.989000	0.77384	1.344000	0.33941	1.389000	0.46526	0.591000	0.81541	CTC		0.398	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		14	18	1	0	1.52009e-12	1	1.92208e-12	14	18				
FAT3	120114	broad.mit.edu	37	11	92498214	92498214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92498214C>A	ENST00000298047.6	+	5	4171	c.4154C>A	c.(4153-4155)tCt>tAt	p.S1385Y	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.S1235Y|FAT3_ENST00000409404.2_Missense_Mutation_p.S1385Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1385	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGGTGGTGTCTGTGCAGCCA	0.438										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(4153-4155)tCt>tAt		FAT atypical cadherin 3							102.0	104.0	103.0					11																	92498214		1929	4114	6043	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92498214C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4154C>A	11.37:g.92498214C>A	ENSP00000298047:p.Ser1385Tyr	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.S1235Y|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.S1385Y	p.S1385Y			Q8TDW7	FAT3_HUMAN			5	4171	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1385			Cadherin 13.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4154C>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.336414	0.81801	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.62105	0.05;0.05;0.05	5.97	5.97	0.96955	.	.	.	.	.	D	0.82944	0.5147	M	0.89287	3.02	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.84994	0.0896	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1385	Q8TDW7-3	.	Y	1385;1385;1235	ENSP00000298047:S1385Y;ENSP00000387040:S1385Y;ENSP00000432586:S1235Y	ENSP00000298047:S1385Y	S	+	2	0	FAT3	92137862	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.424000	0.80242	2.836000	0.97738	0.655000	0.94253	TCT		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	20	1	0	0.00621372	1	0.0064192	10	20				
FMN1	342184	broad.mit.edu	37	15	33261472	33261472	+	Missense_Mutation	SNP	C	C	A	rs201595699		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33261472C>A	ENST00000559047.1	-	5	2429	c.2430G>T	c.(2428-2430)gaG>gaT	p.E810D	FMN1_ENST00000334528.9_Missense_Mutation_p.E587D|FMN1_ENST00000561249.1_Missense_Mutation_p.E712D|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	810	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGAGGAAGGTCTCTCTGTCTG	0.483																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1759-1761)gaG>gaT		formin 1							420.0	388.0	398.0					15																	33261472		2000	4170	6170	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261472C>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2430G>T	15.37:g.33261472C>A	ENSP00000454047:p.Glu810Asp					FMN1_ENST00000561249.1_Missense_Mutation_p.E712D|FMN1_ENST00000559047.1_Missense_Mutation_p.E810D	p.E587D	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1760	-		all_lung(180;1.14e-07)	810			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1761G>T		.	.	.	.	.	.	.	.	.	.	c	14.67	2.606019	0.46527	.	.	ENSG00000248905	ENST00000334528	T	0.60171	0.21	4.59	3.68	0.42216	.	0.054136	0.64402	D	0.000001	T	0.59211	0.2177	M	0.68952	2.095	.	.	.	P	0.35894	0.526	B	0.43867	0.434	T	0.70938	-0.4736	9	0.72032	D	0.01	.	7.5935	0.28035	0.0:0.7556:0.0:0.2444	.	587	Q68DA7-5	.	D	587	ENSP00000333950:E587D	ENSP00000333950:E587D	E	-	3	2	FMN1	31048764	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.956000	0.49129	1.166000	0.42689	0.550000	0.68814	GAG		0.483	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		24	343	1	0	1.64293e-13	1	2.10822e-13	24	343				
MYO3A	53904	broad.mit.edu	37	10	26465660	26465660	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:26465660C>A	ENST00000265944.5	+	31	4490	c.4324C>A	c.(4324-4326)Ctg>Atg	p.L1442M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1442					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATATTTCATTCTGCAGAAAAA	0.378																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4324-4326)Ctg>Atg		myosin IIIA							55.0	54.0	54.0					10																	26465660		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26465660C>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4324C>A	10.37:g.26465660C>A	ENSP00000265944:p.Leu1442Met					MYO3A_ENST00000543632.1_Intron	p.L1442M	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			31	4490	+			1442					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4324C>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683783	0.68157	.	.	ENSG00000095777	ENST00000265944	D	0.85088	-1.94	5.91	3.95	0.45737	.	0.132515	0.52532	N	0.000079	D	0.85703	0.5758	L	0.49126	1.545	0.80722	D	1	D	0.71674	0.998	P	0.60949	0.881	D	0.83450	0.0048	10	0.37606	T	0.19	.	5.3515	0.16038	0.1492:0.6265:0.1442:0.0802	.	1442	Q8NEV4	MYO3A_HUMAN	M	1442	ENSP00000265944:L1442M	ENSP00000265944:L1442M	L	+	1	2	MYO3A	26505666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.787000	0.47798	1.488000	0.48433	0.650000	0.86243	CTG		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	31	1	0	0.0381472	1	0.0387537	8	31				
FMN2	56776	broad.mit.edu	37	1	240492401	240492401	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240492401A>C	ENST00000319653.9	+	9	4471	c.4241A>C	c.(4240-4242)aAa>aCa	p.K1414T	FMN2_ENST00000545751.1_Missense_Mutation_p.K10T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1414	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAACTCGAAAAAATAGAAAAG	0.393																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4240-4242)aAa>aCa		formin 2							94.0	92.0	93.0					1																	240492401		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240492401A>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4241A>C	1.37:g.240492401A>C	ENSP00000318884:p.Lys1414Thr					FMN2_ENST00000545751.1_Missense_Mutation_p.K10T	p.K1414T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		9	4471	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1414			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4241A>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538268	0.65085	.	.	ENSG00000155816	ENST00000319653;ENST00000441342;ENST00000545751;ENST00000537355	T;T;T	0.20200	2.09;2.09;2.09	5.68	4.54	0.55810	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000003	T	0.39860	0.1094	L	0.58354	1.805	0.80722	D	1	P;B;D;P	0.76494	0.872;0.099;0.999;0.858	P;B;D;P	0.66847	0.659;0.138;0.947;0.78	T	0.15607	-1.0431	10	0.62326	D	0.03	.	12.136	0.53972	0.8714:0.0:0.0:0.1285	.	10;60;43;1414	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	T	1414;60;10;41	ENSP00000318884:K1414T;ENSP00000388922:K60T;ENSP00000437918:K10T	ENSP00000318884:K1414T	K	+	2	0	FMN2	238559024	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	4.484000	0.60271	0.959000	0.37980	0.533000	0.62120	AAA		0.393	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		28	50	0	0	0	1	0	28	50				
MON1B	22879	broad.mit.edu	37	16	77227525	77227525	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:77227525G>A	ENST00000248248.3	+	3	676	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	MON1B_ENST00000545553.1_Intron|MON1B_ENST00000320859.6_Missense_Mutation_p.R109Q|MON1B_ENST00000439557.2_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	109										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CGCAGCCAGCGGAAGCATGTG	0.612																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(325-327)cGg>cAg		MON1 secretory trafficking family member B							81.0	73.0	76.0					16																	77227525		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77227525G>A	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.326G>A	16.37:g.77227525G>A	ENSP00000248248:p.Arg109Gln					MON1B_ENST00000320859.6_Missense_Mutation_p.R109Q|MON1B_ENST00000439557.2_Intron|MON1B_ENST00000545553.1_Intron	p.R109Q	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			3	676	+			109					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.326G>A	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190383	0.94923	.	.	ENSG00000103111	ENST00000248248;ENST00000320859	.	.	.	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.31734	0.0806	L	0.42581	1.335	0.32922	D	0.51594	P	0.51537	0.946	B	0.41174	0.349	T	0.43925	-0.9361	9	0.27785	T	0.31	.	8.9135	0.35568	0.1035:0.0:0.8965:0.0	.	109	Q7L1V2	MON1B_HUMAN	Q	109	.	ENSP00000248248:R109Q	R	+	2	0	MON1B	75785026	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.790000	0.75115	2.233000	0.73108	0.563000	0.77884	CGG		0.612	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		21	44	0	0	0	1	0	21	44				
CPQ	10404	broad.mit.edu	37	8	97978234	97978234	+	Silent	SNP	C	C	A	rs376395954		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:97978234C>A	ENST00000220763.5	+	5	1131	c.921C>A	c.(919-921)gcC>gcA	p.A307A		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	307					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GCGGTGGAGCCTTTATATCAT	0.383																																						ENST00000220763.5																			0											c.(919-921)gcC>gcA		carboxypeptidase Q							98.0	97.0	98.0					8																	97978234		2203	4300	6503	SO:0001819	synonymous_variant	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97978234C>A	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.921C>A	8.37:g.97978234C>A							p.A307A	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			5	1131	+			307					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Silent	SNP	ENST00000220763.5	37	c.921C>A	CCDS6273.1																																																																																				0.383	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		7	16	1	0	0.00198382	1	0.00207034	7	16				
DSCAM	1826	broad.mit.edu	37	21	41559882	41559882	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41559882G>T	ENST00000400454.1	-	13	3063	c.2586C>A	c.(2584-2586)ttC>ttA	p.F862L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	862	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCAGGAAAAGAAACCAGAAT	0.403																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2584-2586)ttC>ttA		Down syndrome cell adhesion molecule							110.0	99.0	103.0					21																	41559882		1866	4100	5966	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41559882G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2586C>A	21.37:g.41559882G>T	ENSP00000383303:p.Phe862Leu						p.F862L	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			13	3063	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	862			Ig-like C2-type 9.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2586C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585521	0.66105	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.65916	-0.18;-0.18	4.74	4.74	0.60224	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	L	0.31926	0.97	0.46749	D	0.999185	D	0.64830	0.994	D	0.78314	0.991	T	0.61946	-0.6958	10	0.11794	T	0.64	.	18.0962	0.89490	0.0:0.0:1.0:0.0	.	862	O60469	DSCAM_HUMAN	L	862;614	ENSP00000383303:F862L;ENSP00000385342:F614L	ENSP00000383303:F862L	F	-	3	2	DSCAM	40481752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.110000	0.50352	2.309000	0.77851	0.561000	0.74099	TTC		0.403	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		16	26	1	0	2.23348e-06	1	2.50077e-06	16	26				
PLEKHM1P	440456	broad.mit.edu	37	17	62781380	62781380	+	RNA	SNP	G	G	A	rs570349529		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62781380G>A	ENST00000582986.1	-	0	2470					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										GGCATCAGGCGAAAACGTTCT	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		21160	0.0		0.0	False		,,,				2504	0.001					ENST00000582986.1																			0																																																			0							g.chr17:62781380G>A			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62781380G>A								NR_024386.1						0	2470	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.607	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		8	21	0	0	0	1	0	8	21				
PDZD11	51248	broad.mit.edu	37	X	69507613	69507613	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69507613T>C	ENST00000239666.4	-	5	428	c.296A>G	c.(295-297)gAt>gGt	p.D99G	KIF4A_ENST00000374388.3_5'Flank|KIF4A_ENST00000374403.3_5'Flank|PDZD11_ENST00000374454.1_Missense_Mutation_p.D99G|PDZD11_ENST00000473667.1_5'UTR	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	99	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						GAAATCCACATCATTCACAGC	0.473																																						ENST00000239666.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						c.(295-297)gAt>gGt		PDZ domain containing 11							180.0	137.0	152.0					X																	69507613		2203	4300	6503	SO:0001583	missense	51248					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding	g.chrX:69507613T>C	AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.296A>G	X.37:g.69507613T>C	ENSP00000239666:p.Asp99Gly					PDZD11_ENST00000473667.1_5'UTR|PDZD11_ENST00000374454.1_Missense_Mutation_p.D99G	p.D99G	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN			5	428	-			99			PDZ.		D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	c.296A>G	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	T	5.303	0.241241	0.10077	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.08807	3.05;3.05	5.19	5.19	0.71726	PDZ/DHR/GLGF (4);	0.190561	0.56097	D	0.000032	T	0.01730	0.0055	N	0.00132	-2.035	0.49483	D	0.999793	P;B	0.38827	0.649;0.166	B;B	0.38428	0.273;0.095	T	0.52200	-0.8607	10	0.02654	T	1	.	13.2318	0.59947	0.0:0.0:0.0:1.0	.	130;99	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	G	99	ENSP00000239666:D99G;ENSP00000363578:D99G	ENSP00000239666:D99G	D	-	2	0	PDZD11	69424338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.102000	0.77005	1.918000	0.55548	0.486000	0.48141	GAT		0.473	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484		23	46	0	0	0	1	0	23	46				
FBN1	2200	broad.mit.edu	37	15	48776136	48776136	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48776136G>A	ENST00000316623.5	-	31	4172	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1239	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACACTCATCGATGTCTGCAA	0.413																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(3715-3717)atC>atT		fibrillin 1							113.0	91.0	99.0					15																	48776136		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48776136G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3717C>T	15.37:g.48776136G>A							p.I1239I	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	31	4172	-		all_lung(180;0.00279)	1239			EGF-like 20; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.3717C>T	CCDS32232.1																																																																																				0.413	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			14	25	0	0	0	1	0	14	25				
PTPRT	11122	broad.mit.edu	37	20	40827896	40827896	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:40827896C>T	ENST00000373187.1	-	16	2474	c.2475G>A	c.(2473-2475)caG>caA	p.Q825Q	PTPRT_ENST00000373198.4_Silent_p.Q844Q|PTPRT_ENST00000356100.2_Silent_p.Q834Q|PTPRT_ENST00000373201.1_Silent_p.Q815Q|PTPRT_ENST00000373190.1_Silent_p.Q825Q|PTPRT_ENST00000373193.3_Silent_p.Q828Q|PTPRT_ENST00000373184.1_Silent_p.Q815Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	825					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGTTGACGTCCTGAGAACTAG	0.567																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(2539-2541)caG>caA		protein tyrosine phosphatase, receptor type, T							357.0	358.0	358.0					20																	40827896		2050	4205	6255	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40827896C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2475G>A	20.37:g.40827896C>T						PTPRT_ENST00000373193.3_Silent_p.Q828Q|PTPRT_ENST00000373184.1_Silent_p.Q815Q|PTPRT_ENST00000356100.2_Silent_p.Q834Q|PTPRT_ENST00000373190.1_Silent_p.Q825Q|PTPRT_ENST00000373187.1_Silent_p.Q825Q|PTPRT_ENST00000373201.1_Silent_p.Q815Q	p.Q847Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			17	2776	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	825					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.2541G>A	CCDS42874.1																																																																																				0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			155	348	0	0	0	1	0	155	348				
SRD5A3	79644	broad.mit.edu	37	4	56230296	56230296	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56230296C>T	ENST00000264228.4	+	3	648	c.420C>T	c.(418-420)agC>agT	p.S140S	SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596289.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	140					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GGCTGCACAGCTTACGAAGAC	0.468																																						ENST00000264228.4																			0				cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(418-420)agC>agT		steroid 5 alpha-reductase 3							255.0	211.0	226.0					4																	56230296		2203	4300	6503	SO:0001819	synonymous_variant	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56230296C>T	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.420C>T	4.37:g.56230296C>T						SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000433175.2_RNA	p.S140S	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		3	648	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		140					Q4W5Q6	Silent	SNP	ENST00000264228.4	37	c.420C>T	CCDS3498.1																																																																																				0.468	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		42	77	0	0	0	1	0	42	77				
ETV6	2120	broad.mit.edu	37	12	12038927	12038927	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12038927T>C	ENST00000396373.4	+	7	1494	c.1220T>C	c.(1219-1221)aTc>aCc	p.I407T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	407					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTAAACATTATCAGGAAGGAG	0.423			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1219-1221)aTc>aCc		ets variant 6							126.0	124.0	125.0					12																	12038927		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12038927T>C	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1220T>C	12.37:g.12038927T>C	ENSP00000379658:p.Ile407Thr						p.I407T	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			7	1494	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	407					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.1220T>C	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.149797	0.37923	.	.	ENSG00000139083	ENST00000396373	T	0.19806	2.12	4.95	4.95	0.65309	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63207	-0.6689	10	0.87932	D	0	.	14.5783	0.68265	0.0:0.0:0.0:1.0	.	407	P41212	ETV6_HUMAN	T	407	ENSP00000379658:I407T	ENSP00000379658:I407T	I	+	2	0	ETV6	11930194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	1.992000	0.58205	0.533000	0.62120	ATC		0.423	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		35	88	0	0	0	1	0	35	88				
KCNK6	9424	broad.mit.edu	37	19	38817882	38817882	+	Missense_Mutation	SNP	G	G	A	rs558034240		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38817882G>A	ENST00000263372.3	+	3	888	c.781G>A	c.(781-783)Gac>Aac	p.D261N		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	261					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCACGTGTCCGACCTCCACGG	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18146	0.0		0.0	False		,,,				2504	0.0					ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(781-783)Gac>Aac		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						75.0	59.0	64.0					19																	38817882		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817882G>A	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.781G>A	19.37:g.38817882G>A	ENSP00000263372:p.Asp261Asn						p.D261N	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		3	888	+	all_cancers(60;5.83e-07)		261					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.781G>A	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955560	0.92726	.	.	ENSG00000099337	ENST00000263372	T	0.22945	1.93	5.28	5.28	0.74379	.	0.048525	0.85682	D	0.000000	T	0.43277	0.1240	L	0.46741	1.465	0.53688	D	0.999971	D	0.71674	0.998	D	0.67725	0.953	T	0.12400	-1.0549	10	0.41790	T	0.15	.	16.4062	0.83670	0.0:0.0:1.0:0.0	.	261	Q9Y257	KCNK6_HUMAN	N	261	ENSP00000263372:D261N	ENSP00000263372:D261N	D	+	1	0	KCNK6	43509722	1.000000	0.71417	0.931000	0.37212	0.610000	0.37248	3.472000	0.53114	2.490000	0.84030	0.561000	0.74099	GAC		0.657	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		19	56	0	0	0	1	0	19	56				
SLC7A11	23657	broad.mit.edu	37	4	139101830	139101830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:139101830G>A	ENST00000280612.5	-	10	1510	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	411					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	CATTTGTATCGAAGATAAATC	0.438																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(1231-1233)Cga>Tga		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						68.0	68.0	68.0					4																	139101830		2203	4300	6503	SO:0001587	stop_gained	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139101830G>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1231C>T	4.37:g.139101830G>A	ENSP00000280612:p.Arg411*						p.R411*	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			10	1510	-	all_hematologic(180;0.166)		411					A8K2U4	Nonsense_Mutation	SNP	ENST00000280612.5	37	c.1231C>T	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	40	8.218172	0.98712	.	.	ENSG00000151012	ENST00000280612	.	.	.	5.71	5.71	0.89125	.	0.119701	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7986	0.63186	0.0:0.0:0.7445:0.2555	.	.	.	.	X	411	.	ENSP00000280612:R411X	R	-	1	2	SLC7A11	139321280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.853000	0.62911	2.687000	0.91594	0.655000	0.94253	CGA		0.438	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			12	21	0	0	0	1	0	12	21				
CBLB	868	broad.mit.edu	37	3	105452861	105452861	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:105452861C>T	ENST00000264122.4	-	9	1516	c.1195G>A	c.(1195-1197)Gca>Aca	p.A399T	CBLB_ENST00000403724.1_Missense_Mutation_p.A399T|CBLB_ENST00000394027.3_Missense_Mutation_p.A421T|CBLB_ENST00000405772.1_Missense_Mutation_p.A399T|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	399					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ACCTGCCATGCCGTAAGGCAA	0.393			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1195-1197)Gca>Aca		Cbl proto-oncogene B, E3 ubiquitin protein ligase							90.0	85.0	87.0					3																	105452861		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105452861C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1195G>A	3.37:g.105452861C>T	ENSP00000264122:p.Ala399Thr					CBLB_ENST00000405772.1_Missense_Mutation_p.A399T|CBLB_ENST00000403724.1_Missense_Mutation_p.A399T|CBLB_ENST00000394027.3_Missense_Mutation_p.A421T|CBLB_ENST00000545639.1_3'UTR	p.A399T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			9	1516	-			399					A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1195G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380548	0.61845	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.38	5.38	0.77491	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.106958	0.64402	D	0.000005	T	0.67287	0.2877	N	0.10664	0.02	0.80722	D	1	P;B;B	0.40398	0.716;0.421;0.096	P;B;B	0.45610	0.487;0.169;0.278	T	0.74144	-0.3760	10	0.87932	D	0	-4.8497	14.0198	0.64547	0.1512:0.8488:0.0:0.0	.	421;399;399	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	T	399;421;399;399	ENSP00000264122:A399T;ENSP00000377595:A421T;ENSP00000384816:A399T;ENSP00000384938:A399T	ENSP00000264122:A399T	A	-	1	0	CBLB	106935551	0.999000	0.42202	0.995000	0.50966	0.918000	0.54935	3.458000	0.53014	2.529000	0.85273	0.585000	0.79938	GCA		0.393	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		15	32	0	0	0	1	0	15	32				
ABCA1	19	broad.mit.edu	37	9	107620980	107620980	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107620980C>A	ENST00000374736.3	-	7	938		c.e7-1		ABCA1_ENST00000423487.2_Splice_Site	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCAAAAATACCTGGAAGCATT	0.393																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.e7-1		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						94.0	92.0	92.0					9																	107620980		2203	4300	6503	SO:0001630	splice_region_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107620980C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.544-1G>T	9.37:g.107620980C>A						ABCA1_ENST00000423487.2_Splice_Site		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	7	938	-								Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	SNP	ENST00000374736.3	37		CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195986	0.78902	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA1	106660801	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	4.848000	0.62874	2.941000	0.99782	0.655000	0.94253	.		0.393	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Intron	25	39	1	0	2.48779e-11	1	3.09215e-11	25	39				
PANX3	116337	broad.mit.edu	37	11	124489663	124489663	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124489663C>A	ENST00000284288.2	+	4	1078	c.1011C>A	c.(1009-1011)atC>atA	p.I337I		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	337					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GAGCTAACATCTCTGAGCTCA	0.428																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(1009-1011)atC>atA		pannexin 3							164.0	144.0	151.0					11																	124489663		2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489663C>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.1011C>A	11.37:g.124489663C>A							p.I337I	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	1078	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	337						Silent	SNP	ENST00000284288.2	37	c.1011C>A	CCDS8447.1																																																																																				0.428	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			24	55	1	0	6.44725e-10	1	7.85205e-10	24	55				
CPVL	54504	broad.mit.edu	37	7	29111427	29111427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:29111427C>A	ENST00000409850.1	-	13	1472	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	CPVL_ENST00000265394.5_Nonsense_Mutation_p.E276*|CPVL_ENST00000396276.3_Nonsense_Mutation_p.E276*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	276						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTGATGTGTTCTATGCATTCA	0.488																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(826-828)Gaa>Taa		carboxypeptidase, vitellogenic-like							121.0	107.0	112.0					7																	29111427		2203	4300	6503	SO:0001587	stop_gained	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29111427C>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.826G>T	7.37:g.29111427C>A	ENSP00000387164:p.Glu276*					CPVL_ENST00000396276.3_Nonsense_Mutation_p.E276*|CPVL_ENST00000265394.5_Nonsense_Mutation_p.E276*	p.E276*			Q9H3G5	CPVL_HUMAN			13	1472	-			276					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Nonsense_Mutation	SNP	ENST00000409850.1	37	c.826G>T	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.875467|4.875467	0.91664|0.91664	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850;ENST00000542995;ENST00000448959|ENST00000432534	.|.	.|.	.|.	5.65|5.65	1.62|1.62	0.23740|0.23740	.|.	0.259471|.	0.42172|.	D|.	0.000749|.	.|T	.|0.39860	.|0.1094	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45279	.|-0.9272	.|3	0.07030|.	T|.	0.85|.	-7.9199|-7.9199	6.4326|6.4326	0.21805|0.21805	0.0:0.0896:0.2875:0.623|0.0:0.0896:0.2875:0.623	.|.	.|.	.|.	.|.	X|I	276;276;32;276;160;206|12	.|.	ENSP00000265394:E276X|.	E|R	-|-	1|2	0|0	CPVL|CPVL	29077952|29077952	0.312000|0.312000	0.24545|0.24545	0.833000|0.833000	0.33012|0.33012	0.465000|0.465000	0.32709|0.32709	1.471000|1.471000	0.35365|0.35365	0.021000|0.021000	0.15133|0.15133	-0.274000|-0.274000	0.10170|0.10170	GAA|AGA		0.488	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		8	97	1	0	0.000157383	1	0.000169016	8	97				
PLEKHG6	55200	broad.mit.edu	37	12	6427545	6427545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6427545C>T	ENST00000396988.3	+	11	1464	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	PLEKHG6_ENST00000011684.7_Silent_p.L412L|PLEKHG6_ENST00000449001.2_Silent_p.L380L|PLEKHG6_ENST00000536531.1_Silent_p.L412L|PLEKHG6_ENST00000304581.8_5'Flank	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	412	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ACAGCTGCTGCTGGAGGGGCC	0.642																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(1138-1140)Ctg>Ttg		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							90.0	95.0	93.0					12																	6427545		2203	4300	6503	SO:0001819	synonymous_variant	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6427545C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1234C>T	12.37:g.6427545C>T						PLEKHG6_ENST00000011684.7_Silent_p.L412L|PLEKHG6_ENST00000536531.1_Silent_p.L412L|PLEKHG6_ENST00000396988.3_Silent_p.L412L	p.L380L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			10	1632	+			412					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	ENST00000396988.3	37	c.1138C>T	CCDS8541.1																																																																																				0.642	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		26	39	0	0	0	1	0	26	39				
CST8	10047	broad.mit.edu	37	20	23472478	23472478	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:23472478A>C	ENST00000246012.1	+	2	531	c.174A>C	c.(172-174)aaA>aaC	p.K58N		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	58					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AATACAACAAAGAGAGCGAGG	0.463																																						ENST00000246012.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16						c.(172-174)aaA>aaC		cystatin 8 (cystatin-related epididymal specific)							191.0	166.0	174.0					20																	23472478		2203	4300	6503	SO:0001583	missense	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23472478A>C	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.174A>C	20.37:g.23472478A>C	ENSP00000246012:p.Lys58Asn						p.K58N	NM_005492.2	NP_005483.1	O60676	CST8_HUMAN			2	531	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		58					Q2M2X6	Missense_Mutation	SNP	ENST00000246012.1	37	c.174A>C	CCDS13156.1	.	.	.	.	.	.	.	.	.	.	A	8.961	0.970561	0.18659	.	.	ENSG00000125815	ENST00000449810;ENST00000246012	T;T	0.15718	2.5;2.4	4.15	-3.86	0.04230	Proteinase inhibitor I25, cystatin (2);	0.482604	0.24393	N	0.038920	T	0.17023	0.0409	L	0.53729	1.69	0.09310	N	1	B	0.33299	0.407	B	0.41332	0.354	T	0.23476	-1.0187	10	0.25106	T	0.35	-4.9825	11.2509	0.49026	0.4013:0.0:0.5987:0.0	.	58	O60676	CST8_HUMAN	N	58	ENSP00000399144:K58N;ENSP00000246012:K58N	ENSP00000246012:K58N	K	+	3	2	CST8	23420478	0.035000	0.19736	0.000000	0.03702	0.001000	0.01503	-0.188000	0.09642	-0.835000	0.04234	-0.912000	0.02778	AAA		0.463	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			49	95	0	0	0	1	0	49	95				
SLC2A4	6517	broad.mit.edu	37	17	7186949	7186949	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7186949C>A	ENST00000317370.8	+	3	576	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	SLC2A4_ENST00000424875.2_Missense_Mutation_p.S93Y|SLC2A4_ENST00000571308.1_Missense_Mutation_p.S103Y|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	103					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						GGTATCATCTCTCAGTGGCTT	0.617																																						ENST00000317370.8																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(307-309)tCt>tAt		solute carrier family 2 (facilitated glucose transporter), member 4							88.0	90.0	89.0					17																	7186949		2203	4300	6503	SO:0001583	missense	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.chr17:7186949C>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.308C>A	17.37:g.7186949C>A	ENSP00000320935:p.Ser103Tyr					SLC2A4_ENST00000424875.2_Missense_Mutation_p.S93Y|SLC2A4_ENST00000571308.1_Missense_Mutation_p.S103Y|RP1-4G17.2_ENST00000576271.1_RNA	p.S103Y	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN			3	576	+			103					Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.308C>A	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241083	0.58995	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;D	0.83250	0.09;-1.7	5.31	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	M	0.69358	2.11	0.43242	D	0.995157	P;P	0.51791	0.892;0.948	P;B	0.50049	0.629;0.359	D	0.86385	0.1732	10	0.87932	D	0	.	11.9107	0.52737	0.0:0.9159:0.0:0.0841	.	103;93	P14672;F5H081	GTR4_HUMAN;.	Y	103;93	ENSP00000320935:S103Y;ENSP00000396887:S93Y	ENSP00000320935:S103Y	S	+	2	0	SLC2A4	7127673	0.132000	0.22450	1.000000	0.80357	0.994000	0.84299	1.086000	0.30853	1.477000	0.48234	0.561000	0.74099	TCT		0.617	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			27	62	1	0	1.17739e-12	1	1.49076e-12	27	62				
LRP1B	53353	broad.mit.edu	37	2	141607716	141607716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141607716G>A	ENST00000389484.3	-	29	5865	c.4894C>T	c.(4894-4896)Cga>Tga	p.R1632*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1632					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAAAAGCTCGTTTAATGGTT	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4894-4896)Cga>Tga		low density lipoprotein receptor-related protein 1B							175.0	182.0	180.0					2																	141607716		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141607716G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4894C>T	2.37:g.141607716G>A	ENSP00000374135:p.Arg1632*	TSP Lung(27;0.18)					p.R1632*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	29	5865	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1632					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.4894C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	49	14.982488	0.99818	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	.	.	.	5.32	4.42	0.53409	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6951	0.56999	0.0:0.0:0.574:0.426	.	.	.	.	X	1632;1570;777	.	ENSP00000374135:R1632X	R	-	1	2	LRP1B	141324186	1.000000	0.71417	0.985000	0.45067	0.383000	0.30230	3.803000	0.55560	1.215000	0.43411	0.313000	0.20887	CGA		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		26	42	0	0	0	1	0	26	42				
DLG4	1742	broad.mit.edu	37	17	7106763	7106763	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7106763T>G	ENST00000399506.2	-	6	676	c.485A>C	c.(484-486)aAg>aCg	p.K162T	DLG4_ENST00000485100.1_Missense_Mutation_p.K159T|DLG4_ENST00000302955.6_Missense_Mutation_p.K159T|DLG4_ENST00000399510.2_Missense_Mutation_p.K205T			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	162	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CTTGATGAGCTTGATCTCCAT	0.602																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(613-615)aAg>aCg		discs, large homolog 4 (Drosophila)							66.0	74.0	71.0					17																	7106763		2000	4151	6151	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7106763T>G	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.485A>C	17.37:g.7106763T>G	ENSP00000382425:p.Lys162Thr					DLG4_ENST00000399506.2_Missense_Mutation_p.K162T|DLG4_ENST00000485100.1_Missense_Mutation_p.K159T|DLG4_ENST00000302955.6_Missense_Mutation_p.K159T	p.K205T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			8	1466	-			162			PDZ 2.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.614A>C		.	.	.	.	.	.	.	.	.	.	T	17.37	3.371797	0.61624	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.78	4.78	0.61160	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.25082	0.0609	N	0.02802	-0.49	0.48236	D	0.999614	P;B;D;P;D	0.63880	0.948;0.24;0.993;0.745;0.993	P;P;D;P;D	0.76575	0.867;0.453;0.988;0.768;0.978	T	0.36065	-0.9763	9	0.38643	T	0.18	.	12.2851	0.54788	0.0:0.0:0.0:1.0	.	202;162;159;159;205	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	T	162;159;205;205;102;205;195;192	ENSP00000382425:K162T;ENSP00000307471:K159T;ENSP00000382428:K205T;ENSP00000388122:K192T	ENSP00000293813:K205T	K	-	2	0	DLG4	7047487	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.963000	0.70372	1.789000	0.52484	0.374000	0.22700	AAG		0.602	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		36	64	0	0	0	1	0	36	64				
CHRNA6	8973	broad.mit.edu	37	8	42611406	42611406	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42611406G>T	ENST00000276410.2	-	5	1291	c.936C>A	c.(934-936)atC>atA	p.I312I	CHRNA6_ENST00000534622.1_Silent_p.I297I|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	312					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GTGTGACAAAGATCATGGTGA	0.507																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(934-936)atC>atA		cholinergic receptor, nicotinic, alpha 6 (neuronal)							102.0	87.0	93.0					8																	42611406		2203	4300	6503	SO:0001819	synonymous_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611406G>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.936C>A	8.37:g.42611406G>T						CHRNA6_ENST00000534622.1_Silent_p.I297I	p.I312I	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1291	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	312					B2R8V4|B4DQH1	Silent	SNP	ENST00000276410.2	37	c.936C>A	CCDS6135.1																																																																																				0.507	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			26	48	1	0	4.47668e-21	1	6.17272e-21	26	48				
GPBP1	65056	broad.mit.edu	37	5	56545382	56545382	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:56545382A>G	ENST00000506184.2	+	9	2056	c.951A>G	c.(949-951)gaA>gaG	p.E317E	GPBP1_ENST00000264779.6_Silent_p.E324E|GPBP1_ENST00000424459.3_Silent_p.E337E|GPBP1_ENST00000454432.2_Silent_p.E337E|GPBP1_ENST00000511209.1_Silent_p.E309E|GPBP1_ENST00000514387.2_Silent_p.E146E|GPBP1_ENST00000538707.1_Silent_p.E324E			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	317					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		ATGAAGATGAAAGCCGTGCTG	0.373																																						ENST00000424459.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1009-1011)gaA>gaG		GC-rich promoter binding protein 1							92.0	92.0	92.0					5																	56545382		2201	4299	6500	SO:0001819	synonymous_variant	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56545382A>G		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.951A>G	5.37:g.56545382A>G						GPBP1_ENST00000506184.2_Silent_p.E317E|GPBP1_ENST00000511209.1_Silent_p.E309E|GPBP1_ENST00000514387.2_Silent_p.E146E|GPBP1_ENST00000538707.1_Silent_p.E324E|GPBP1_ENST00000264779.6_Silent_p.E324E|GPBP1_ENST00000454432.2_Silent_p.E337E	p.E337E	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	10	2285	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	317					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Silent	SNP	ENST00000506184.2	37	c.1011A>G	CCDS34162.1																																																																																				0.373	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		21	26	0	0	0	1	0	21	26				
ANK2	287	broad.mit.edu	37	4	114095638	114095638	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114095638C>A	ENST00000357077.4	+	2	204	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	ANK2_ENST00000264366.6_Missense_Mutation_p.L51M|ANK2_ENST00000394537.3_Missense_Mutation_p.L51M|ANK2_ENST00000506722.1_Missense_Mutation_p.L30M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	51					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGGAATATCTGAAGGGGGG	0.463																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(151-153)Ctg>Atg		ankyrin 2, neuronal							67.0	56.0	60.0					4																	114095638		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114095638C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.151C>A	4.37:g.114095638C>A	ENSP00000349588:p.Leu51Met					ANK2_ENST00000394537.3_Missense_Mutation_p.L51M|ANK2_ENST00000264366.6_Missense_Mutation_p.L51M|ANK2_ENST00000506722.1_Missense_Mutation_p.L30M	p.L51M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	2	204	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	51					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.151C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901769	0.72754	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000508613;ENST00000511380;ENST00000343056	T;T;T;T;T;T;T;T;T	0.73575	1.55;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.76;-0.66	5.54	3.79	0.43588	Ankyrin repeat-containing domain (2);	0.000000	0.41194	D	0.000940	D	0.83358	0.5237	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.984;0.996;0.999;0.997	D	0.84781	0.0773	10	0.72032	D	0.01	.	12.1073	0.53820	0.0:0.8562:0.0:0.1438	.	51;51;51;30;30	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	M	30;30;30;66;51;51;51;66;68;30	ENSP00000423799:L30M;ENSP00000421011:L30M;ENSP00000421067:L30M;ENSP00000424722:L66M;ENSP00000378044:L51M;ENSP00000349588:L51M;ENSP00000264366:L51M;ENSP00000422900:L66M;ENSP00000425775:L68M	ENSP00000264366:L51M	L	+	1	2	ANK2	114315087	0.992000	0.36948	0.998000	0.56505	0.992000	0.81027	2.985000	0.49362	1.326000	0.45319	0.655000	0.94253	CTG		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		11	22	1	0	6.40141e-05	1	6.95424e-05	11	22				
ZNF121	7675	broad.mit.edu	37	19	9677366	9677366	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9677366T>G	ENST00000586602.1	-	6	839	c.423A>C	c.(421-423)gaA>gaC	p.E141D	ZNF121_ENST00000320451.6_Missense_Mutation_p.E141D			P58317	ZN121_HUMAN	zinc finger protein 121	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CGTAGGGTTTTTCTACAGTAT	0.378																																						ENST00000586602.1																			0				breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						c.(421-423)gaA>gaC		zinc finger protein 121							83.0	77.0	79.0					19																	9677366		2203	4300	6503	SO:0001583	missense	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9677366T>G	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.423A>C	19.37:g.9677366T>G	ENSP00000468643:p.Glu141Asp					ZNF121_ENST00000320451.6_Missense_Mutation_p.E141D	p.E141D			P58317	ZN121_HUMAN			6	839	-			141						Missense_Mutation	SNP	ENST00000586602.1	37	c.423A>C		.	.	.	.	.	.	.	.	.	.	T	8.968	0.972265	0.18736	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.26810	1.71	1.3	1.3	0.21679	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21550	0.0519	L	0.43152	1.355	0.09310	N	1	B	0.14805	0.011	B	0.24541	0.054	T	0.28808	-1.0032	9	0.72032	D	0.01	.	6.6906	0.23169	0.0:0.0:0.0:1.0	.	141	P58317	ZN121_HUMAN	D	141	ENSP00000326967:E141D	ENSP00000326967:E141D	E	-	3	2	ZNF121	9538366	0.000000	0.05858	0.052000	0.19188	0.123000	0.20343	-0.796000	0.04575	0.853000	0.35312	0.402000	0.26972	GAA		0.378	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		17	24	0	0	0	1	0	17	24				
TBC1D5	9779	broad.mit.edu	37	3	17279903	17279903	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:17279903G>A	ENST00000253692.7	-	17	3004	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	TBC1D5_ENST00000429383.4_Missense_Mutation_p.A447V|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A399V|TBC1D5_ENST00000446818.2_Missense_Mutation_p.A447V|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	447						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.A447G(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGCACCTTTGGCATTGGTCCT	0.383																																						ENST00000253692.7																			1	Substitution - Missense(1)	p.A447G(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(1339-1341)gCc>gTc		TBC1 domain family, member 5							38.0	39.0	39.0					3																	17279903		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17279903G>A	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1340C>T	3.37:g.17279903G>A	ENSP00000253692:p.Ala447Val					TBC1D5_ENST00000446818.2_Missense_Mutation_p.A447V|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A399V|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A447V	p.A447V	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			17	3004	-			447					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1340C>T	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961707	0.53400	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.45276	1.46;1.46;1.46;0.9	5.89	5.02	0.67125	.	0.560495	0.20995	N	0.081979	T	0.36635	0.0974	L	0.47716	1.5	0.43647	D	0.996052	B;P;P;P	0.36086	0.083;0.536;0.536;0.536	B;B;B;B	0.33454	0.02;0.079;0.164;0.164	T	0.17806	-1.0357	10	0.44086	T	0.13	-3.2706	13.514	0.61530	0.0721:0.0:0.9279:0.0	.	399;447;447;447	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	V	447;447;447;399	ENSP00000253692:A447V;ENSP00000398127:A447V;ENSP00000402935:A447V;ENSP00000411925:A399V	ENSP00000253692:A447V	A	-	2	0	TBC1D5	17254907	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.144000	0.71762	1.489000	0.48450	0.555000	0.69702	GCC		0.383	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		6	18	0	0	0	1	0	6	18				
ZMYM3	9203	broad.mit.edu	37	X	70460939	70460939	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70460939G>A	ENST00000353904.2	-	25	4127	c.3940C>T	c.(3940-3942)Cgc>Tgc	p.R1314C	ZMYM3_ENST00000373998.1_Missense_Mutation_p.R1302C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1316C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1224C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1314C	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1314					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACATCGTTGCGAGTCCGGAGG	0.577																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3904-3906)Cgc>Tgc		zinc finger, MYM-type 3							55.0	43.0	47.0					X																	70460939		2203	4299	6502	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70460939G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3940C>T	X.37:g.70460939G>A	ENSP00000343909:p.Arg1314Cys					ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1224C|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1314C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1314C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1316C|ZMYM3_ENST00000489332.1_5'UTR	p.R1302C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			25	4601	-	Renal(35;0.156)		1314					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3904C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	16.74	3.206999	0.58343	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.54479	1.17;0.57;1.17;1.16;1.17	4.71	4.71	0.59529	.	0.206969	0.34435	N	0.003968	T	0.69886	0.3161	M	0.62088	1.915	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.74348	0.97;0.983	T	0.73981	-0.3811	10	0.72032	D	0.01	-10.4914	16.8904	0.86085	0.0:0.0:1.0:0.0	.	1302;1314	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1314;1302;1314;1224;1316	ENSP00000322845:R1314C;ENSP00000363110:R1302C;ENSP00000343909:R1314C;ENSP00000363096:R1224C;ENSP00000363100:R1316C	ENSP00000322845:R1314C	R	-	1	0	ZMYM3	70377664	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	3.239000	0.51360	2.164000	0.68074	0.594000	0.82650	CGC		0.577	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		14	20	0	0	0	1	0	14	20				
LYST	1130	broad.mit.edu	37	1	235972297	235972297	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:235972297A>G	ENST00000389794.3	-	5	1995	c.1821T>C	c.(1819-1821)ttT>ttC	p.F607F	LYST_ENST00000536965.1_Silent_p.F607F|LYST_ENST00000389793.2_Silent_p.F607F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	607					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATGCTGCTGAAAATTTTTCA	0.333																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(1819-1821)ttT>ttC		lysosomal trafficking regulator							88.0	93.0	92.0					1																	235972297		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972297A>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1821T>C	1.37:g.235972297A>G						LYST_ENST00000536965.1_Silent_p.F607F|LYST_ENST00000389793.2_Silent_p.F607F	p.F607F			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1995	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	607					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.1821T>C	CCDS31062.1																																																																																				0.333	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			37	71	0	0	0	1	0	37	71				
DNAH2	146754	broad.mit.edu	37	17	7678128	7678128	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7678128A>C	ENST00000572933.1	+	29	6013	c.4553A>C	c.(4552-4554)aAa>aCa	p.K1518T	DNAH2_ENST00000389173.2_Missense_Mutation_p.K1518T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1518	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATATTCAGAAATCTCTGGAT	0.448																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(4552-4554)aAa>aCa		dynein, axonemal, heavy chain 2							83.0	79.0	80.0					17																	7678128		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7678128A>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4553A>C	17.37:g.7678128A>C	ENSP00000458355:p.Lys1518Thr					DNAH2_ENST00000389173.2_Missense_Mutation_p.K1518T	p.K1518T			Q9P225	DYH2_HUMAN			29	6013	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1518			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.4553A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272361	0.80580	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.70986	-0.53	5.59	4.5	0.54988	Dynein heavy chain, domain-2 (1);	0.108661	0.64402	D	0.000011	D	0.87704	0.6244	H	0.96142	3.775	0.80722	D	1	D	0.56287	0.975	D	0.72075	0.976	D	0.90297	0.4327	10	0.87932	D	0	.	10.8695	0.46875	0.9235:0.0:0.0765:0.0	.	1518	Q9P225	DYH2_HUMAN	T	1518	ENSP00000373825:K1518T	ENSP00000353818:K1518T	K	+	2	0	DNAH2	7618853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.823000	0.62694	2.138000	0.66242	0.519000	0.50382	AAA		0.448	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		26	28	0	0	0	1	0	26	28				
OR56A4	120793	broad.mit.edu	37	11	6023301	6023301	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6023301T>G	ENST00000330728.4	-	1	1123	c.1078A>C	c.(1078-1080)Aac>Cac	p.N360H		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGCAGGTTTTGGATTCCC	0.418																																						ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(1078-1080)Aac>Cac		olfactory receptor, family 56, subfamily A, member 4							60.0	62.0	61.0					11																	6023301		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023301T>G	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.1078A>C	11.37:g.6023301T>G	ENSP00000328215:p.Asn360His						p.N360H	NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	1123	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	308					B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.1078A>C	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	T	9.755	1.168464	0.21621	.	.	ENSG00000183389	ENST00000330728	T	0.37752	1.18	4.15	2.98	0.34508	.	0.419670	0.17009	U	0.190602	T	0.16685	0.0401	N	0.02751	-0.505	0.09310	N	1	P	0.35944	0.529	B	0.39590	0.304	T	0.10730	-1.0617	10	0.35671	T	0.21	.	7.0422	0.25027	0.2008:0.0:0.0:0.7992	.	308	Q8NGH8	O56A4_HUMAN	H	360	ENSP00000328215:N360H	ENSP00000328215:N360H	N	-	1	0	OR56A4	5979877	0.001000	0.12720	0.005000	0.12908	0.100000	0.18952	0.989000	0.29629	0.684000	0.31448	0.533000	0.62120	AAC		0.418	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		17	32	0	0	0	1	0	17	32				
MAP1B	4131	broad.mit.edu	37	5	71491766	71491766	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71491766G>A	ENST00000296755.7	+	5	2882	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	862					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAGCTAATCGAAGACGAAGA	0.493																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2584-2586)Gaa>Aaa		microtubule-associated protein 1B							125.0	122.0	123.0					5																	71491766		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491766G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2584G>A	5.37:g.71491766G>A	ENSP00000296755:p.Glu862Lys						p.E862K	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2882	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	862					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2584G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768876	0.49680	.	.	ENSG00000131711	ENST00000296755	T	0.03272	3.99	5.34	5.34	0.76211	.	0.093811	0.45867	D	0.000337	T	0.03827	0.0108	L	0.36672	1.1	0.43559	D	0.995879	B;B	0.16802	0.019;0.004	B;B	0.09377	0.004;0.003	T	0.48258	-0.9051	10	0.28530	T	0.3	-13.4911	10.6014	0.45369	0.149:0.0:0.851:0.0	.	736;862	A2BDK6;P46821	.;MAP1B_HUMAN	K	862	ENSP00000296755:E862K	ENSP00000296755:E862K	E	+	1	0	MAP1B	71527522	1.000000	0.71417	0.724000	0.30704	0.112000	0.19704	5.618000	0.67722	2.490000	0.84030	0.591000	0.81541	GAA		0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		9	196	0	0	0	1	0	9	196				
ILKAP	80895	broad.mit.edu	37	2	239093869	239093869	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239093869A>C	ENST00000254654.3	-	6	660	c.485T>G	c.(484-486)tTt>tGt	p.F162C		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	162	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGTGCAGCAAATTTTGAGGC	0.353																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(484-486)tTt>tGt		integrin-linked kinase-associated serine/threonine phosphatase							110.0	104.0	106.0					2																	239093869		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239093869A>C	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.485T>G	2.37:g.239093869A>C	ENSP00000254654:p.Phe162Cys						p.F162C	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	6	660	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	162			PP2C-like.		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.485T>G	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815119	0.70912	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.19532	2.14;2.14	5.86	5.86	0.93980	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.51534	0.1680	M	0.90252	3.1	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.60337	-0.7283	10	0.72032	D	0.01	-4.2693	10.9192	0.47154	0.8595:0.0:0.0:0.1405	.	162	Q9H0C8	ILKAP_HUMAN	C	162;160	ENSP00000254654:F162C;ENSP00000395301:F160C	ENSP00000254654:F162C	F	-	2	0	ILKAP	238758608	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.341000	0.52151	2.241000	0.73720	0.528000	0.53228	TTT		0.353	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		12	16	0	0	0	1	0	12	16				
NAA35	60560	broad.mit.edu	37	9	88590040	88590040	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88590040G>T	ENST00000361671.5	+	8	728	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	NAA35_ENST00000376040.1_Missense_Mutation_p.D199Y	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	199					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CATGCTAAAAGATGTGGAGGA	0.294																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(595-597)Gat>Tat		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							193.0	196.0	195.0					9																	88590040		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88590040G>T	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.595G>T	9.37:g.88590040G>T	ENSP00000354972:p.Asp199Tyr					NAA35_ENST00000376040.1_Missense_Mutation_p.D199Y	p.D199Y	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN			8	728	+			199					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.595G>T	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556810	0.86231	.	.	ENSG00000135040	ENST00000361671;ENST00000376040	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	N	0.22421	0.69	0.80722	D	1	P;D	0.60575	0.947;0.988	B;P	0.51101	0.36;0.659	T	0.62191	-0.6906	9	0.87932	D	0	-18.3852	20.1379	0.98040	0.0:0.0:1.0:0.0	.	199;199	Q5VZE6;Q5VZE5	.;NAA35_HUMAN	Y	199	.	ENSP00000354972:D199Y	D	+	1	0	NAA35	87779860	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.002000	0.76304	2.779000	0.95612	0.655000	0.94253	GAT		0.294	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		18	36	1	0	8.34094e-07	1	9.42356e-07	18	36				
TM9SF2	9375	broad.mit.edu	37	13	100188971	100188971	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100188971A>G	ENST00000376387.4	+	5	761	c.571A>G	c.(571-573)Aaa>Gaa	p.K191E	TM9SF2_ENST00000463709.1_3'UTR|RNY3P6_ENST00000390895.1_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	191					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGGCCATGCAAAAGATGCCTG	0.363																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(571-573)Aaa>Gaa		transmembrane 9 superfamily member 2							195.0	177.0	183.0					13																	100188971		2203	4300	6503	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100188971A>G	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.571A>G	13.37:g.100188971A>G	ENSP00000365567:p.Lys191Glu					TM9SF2_ENST00000463709.1_3'UTR	p.K191E	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			5	761	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		191					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.571A>G	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622368	0.66787	.	.	ENSG00000125304	ENST00000376387	T	0.44881	0.91	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.74647	2.275	0.58432	D	0.999999	B	0.17852	0.024	B	0.30572	0.117	T	0.43048	-0.9415	10	0.20519	T	0.43	-19.9394	16.635	0.85050	1.0:0.0:0.0:0.0	.	191	Q99805	TM9S2_HUMAN	E	191	ENSP00000365567:K191E	ENSP00000365567:K191E	K	+	1	0	TM9SF2	98986972	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.189000	0.94928	2.330000	0.79161	0.477000	0.44152	AAA		0.363	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			17	23	0	0	0	1	0	17	23				
DSEL	92126	broad.mit.edu	37	18	65178964	65178964	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65178964A>C	ENST00000310045.7	-	2	4385	c.2912T>G	c.(2911-2913)tTt>tGt	p.F971C	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	961					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TCTCCTTTTAAATTTTCTTTT	0.378																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2911-2913)tTt>tGt		dermatan sulfate epimerase-like							43.0	50.0	47.0					18																	65178964		2180	4285	6465	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178964A>C	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2912T>G	18.37:g.65178964A>C	ENSP00000310565:p.Phe971Cys					CTD-2541J13.2_ENST00000583493.1_RNA	p.F971C	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4385	-		Esophageal squamous(42;0.129)	961					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2912T>G	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	2.659	-0.280278	0.05642	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.82167	-1.58	5.17	-1.4	0.08968	Sulfotransferase domain (1);	0.399514	0.19643	U	0.109412	T	0.72471	0.3464	L	0.29908	0.895	0.09310	N	1	B	0.23540	0.087	B	0.31547	0.132	T	0.62105	-0.6924	10	0.41790	T	0.15	0.2889	10.7418	0.46158	0.4756:0.0:0.5244:0.0	.	961	Q8IZU8	DSEL_HUMAN	C	971;961	ENSP00000310565:F971C	ENSP00000310565:F971C	F	-	2	0	DSEL	63329944	0.000000	0.05858	0.001000	0.08648	0.332000	0.28634	0.844000	0.27654	-0.245000	0.09625	-0.376000	0.06991	TTT		0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		14	34	0	0	0	1	0	14	34				
SATB2	23314	broad.mit.edu	37	2	200193516	200193516	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:200193516G>A	ENST00000417098.1	-	8	2107	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	SATB2_ENST00000457245.1_Missense_Mutation_p.R431C|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000443023.1_Missense_Mutation_p.R372C|SATB2_ENST00000260926.5_Missense_Mutation_p.R431C|SATB2_ENST00000428695.1_Missense_Mutation_p.R313C	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	431					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGTAGATGCGATCTCGCTCC	0.562																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1114-1116)Cgc>Tgc		SATB homeobox 2							130.0	112.0	118.0					2																	200193516		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200193516G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1291C>T	2.37:g.200193516G>A	ENSP00000401112:p.Arg431Cys					RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000417098.1_Missense_Mutation_p.R431C|SATB2_ENST00000428695.1_Missense_Mutation_p.R313C|SATB2_ENST00000260926.5_Missense_Mutation_p.R431C|SATB2_ENST00000457245.1_Missense_Mutation_p.R431C	p.R372C			Q9UPW6	SATB2_HUMAN			7	2579	-			431					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1114C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936441	0.92458	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.53857	0.61;0.62;0.61;0.6;0.61	4.98	4.98	0.66077	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.72805	-0.4182	10	0.87932	D	0	-13.8548	18.8143	0.92071	0.0:0.0:1.0:0.0	.	313;431	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	C	431;372;431;313;431	ENSP00000401112:R431C;ENSP00000388764:R372C;ENSP00000260926:R431C;ENSP00000388581:R313C;ENSP00000405420:R431C	ENSP00000260926:R431C	R	-	1	0	SATB2	199901761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.747000	0.94245	0.650000	0.86243	CGC		0.562	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		13	21	0	0	0	1	0	13	21				
CNTN5	53942	broad.mit.edu	37	11	99827539	99827539	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:99827539G>T	ENST00000524871.1	+	8	965	c.675G>T	c.(673-675)gaG>gaT	p.E225D	CNTN5_ENST00000279463.3_Splice_Site_p.E225D|CNTN5_ENST00000527185.1_Splice_Site_p.E225D|CNTN5_ENST00000418526.2_Splice_Site_p.E151D|CNTN5_ENST00000528682.1_Splice_Site_p.E225D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	225	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTTTCAGAGATCATCTATA	0.383																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e8-1		contactin 5							81.0	74.0	76.0					11																	99827539		1831	4078	5909	SO:0001630	splice_region_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99827539G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.674-1G>T	11.37:g.99827539G>T						CNTN5_ENST00000418526.2_Splice_Site_p.E151_splice|CNTN5_ENST00000528682.1_Splice_Site_p.E225_splice|CNTN5_ENST00000279463.3_Splice_Site_p.E225_splice|CNTN5_ENST00000527185.1_Splice_Site_p.E225_splice	p.E225_splice	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	8	965	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	225			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Splice_Site	SNP	ENST00000524871.1	37	c.673_splice	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	9.990	1.230679	0.22542	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	5.47	3.41	0.39046	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109105	0.64402	D	0.000007	T	0.12603	0.0306	L	0.28694	0.88	0.49299	D	0.999778	B;B;B	0.30870	0.298;0.033;0.298	B;B;B	0.41619	0.361;0.086;0.274	T	0.10497	-1.0627	10	0.11182	T	0.66	.	10.5971	0.45345	0.2344:0.0:0.7656:0.0	.	225;151;225	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	225;225;225;151;225	ENSP00000433575:E225D;ENSP00000436185:E225D;ENSP00000435637:E225D;ENSP00000393229:E151D;ENSP00000279463:E225D	ENSP00000279463:E225D	E	+	3	2	CNTN5	99332749	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.513000	0.45494	0.657000	0.30906	0.585000	0.79938	GAG		0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	Missense_Mutation	4	21	1	0	0.150653	1	0.151842	4	21				
GC	2638	broad.mit.edu	37	4	72631284	72631284	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:72631284G>T	ENST00000273951.8	-	4	681	c.338C>A	c.(337-339)aCc>aAc	p.T113N	GC_ENST00000513476.1_Missense_Mutation_p.T113N|GC_ENST00000504199.1_Missense_Mutation_p.T132N|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	113	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GCCCTCTTTGGTGCAGCACTC	0.517																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(337-339)aCc>aAc		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						129.0	119.0	123.0					4																	72631284		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72631284G>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.338C>A	4.37:g.72631284G>T	ENSP00000273951:p.Thr113Asn					GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.T132N|GC_ENST00000513476.1_Missense_Mutation_p.T113N	p.T113N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		4	681	-		all_hematologic(202;0.107)	113			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.338C>A	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	G	9.267	1.044727	0.19748	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476;ENST00000506245	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.5	5.5	0.81552	.	0.540879	0.19488	N	0.113043	T	0.68568	0.3015	L	0.60455	1.87	0.09310	N	1	B;P	0.42692	0.256;0.787	B;B	0.42916	0.216;0.402	T	0.67496	-0.5656	10	0.72032	D	0.01	.	10.3417	0.43882	0.1478:0.0:0.8522:0.0	.	132;113	D6RAK8;D6RF35	.;.	N	113;132;113;113	ENSP00000273951:T113N;ENSP00000421725:T132N;ENSP00000426683:T113N;ENSP00000426718:T113N	ENSP00000273951:T113N	T	-	2	0	GC	72850148	0.315000	0.24571	0.012000	0.15200	0.018000	0.09664	3.467000	0.53078	2.735000	0.93741	0.655000	0.94253	ACC		0.517	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			29	64	1	0	1.17739e-12	1	1.49076e-12	29	64				
STAU1	6780	broad.mit.edu	37	20	47733749	47733749	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47733749C>T	ENST00000371856.2	-	12	1956	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	STAU1_ENST00000371802.1_Missense_Mutation_p.E441K|STAU1_ENST00000340954.7_Missense_Mutation_p.E435K|STAU1_ENST00000371792.1_Missense_Mutation_p.E433K|STAU1_ENST00000360426.4_Missense_Mutation_p.E435K|STAU1_ENST00000371828.3_Missense_Mutation_p.E441K|STAU1_ENST00000347458.5_Missense_Mutation_p.E435K	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	516					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GATACAAATTCGTTCTTGTTG	0.483																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1321-1323)Gaa>Aaa		staufen double-stranded RNA binding protein 1							238.0	223.0	228.0					20																	47733749		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47733749C>T		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1546G>A	20.37:g.47733749C>T	ENSP00000360922:p.Glu516Lys					STAU1_ENST00000340954.7_Missense_Mutation_p.E435K|STAU1_ENST00000371802.1_Missense_Mutation_p.E441K|STAU1_ENST00000371792.1_Missense_Mutation_p.E433K|STAU1_ENST00000371856.2_Missense_Mutation_p.E516K|STAU1_ENST00000347458.5_Missense_Mutation_p.E435K|STAU1_ENST00000360426.4_Missense_Mutation_p.E435K	p.E441K	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		12	1808	-			516					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.1321G>A	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	37	6.170522	0.97343	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.71036	2.16	0.80722	D	1	D;D	0.71674	0.99;0.998	P;P	0.62649	0.781;0.905	D	0.90471	0.4453	10	0.87932	D	0	-21.9579	20.422	0.99049	0.0:1.0:0.0:0.0	.	516;441	O95793;Q5JW29	STAU1_HUMAN;.	K	441;435;516;435;435;435;441;433	ENSP00000360893:E441K;ENSP00000345425:E435K;ENSP00000360922:E516K;ENSP00000353604:E435K;ENSP00000323443:E435K;ENSP00000360867:E441K;ENSP00000360857:E433K	ENSP00000345425:E435K	E	-	1	0	STAU1	47167156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	GAA		0.483	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		39	56	0	0	0	1	0	39	56				
ELSPBP1	64100	broad.mit.edu	37	19	48525433	48525433	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48525433C>T	ENST00000339841.2	+	6	699	c.521C>T	c.(520-522)tCc>tTc	p.S174F	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.S26F	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	174					single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTAGGAATTTCCGCGTTGGTC	0.453																																						ENST00000339841.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(520-522)tCc>tTc		epididymal sperm binding protein 1							208.0	179.0	189.0					19																	48525433		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48525433C>T	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.521C>T	19.37:g.48525433C>T	ENSP00000340660:p.Ser174Phe					ELSPBP1_ENST00000597519.1_Missense_Mutation_p.S26F	p.S174F	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	6	699	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	174					Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.521C>T	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745726	0.30955	.	.	ENSG00000169393	ENST00000339841	T	0.35421	1.31	3.0	3.0	0.34707	Kringle-like fold (1);	0.451430	0.18733	N	0.132678	T	0.50514	0.1620	M	0.72894	2.215	0.09310	N	1	D	0.67145	0.996	P	0.56612	0.802	T	0.40979	-0.9534	10	0.62326	D	0.03	.	12.2173	0.54414	0.0:1.0:0.0:0.0	.	174	Q96BH3	ESPB1_HUMAN	F	174	ENSP00000340660:S174F	ENSP00000340660:S174F	S	+	2	0	ELSPBP1	53217245	0.122000	0.22280	0.018000	0.16275	0.173000	0.22820	2.471000	0.45127	1.968000	0.57251	0.609000	0.83330	TCC		0.453	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			31	64	0	0	0	1	0	31	64				
ZBTB24	9841	broad.mit.edu	37	6	109802552	109802552	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109802552A>G	ENST00000230122.3	-	2	845	c.678T>C	c.(676-678)agT>agC	p.S226S		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	226					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CCTCCTCTCTACTTGGCTCAC	0.453																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(676-678)agT>agC		zinc finger and BTB domain containing 24							240.0	236.0	237.0					6																	109802552		2203	4300	6503	SO:0001819	synonymous_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802552A>G	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.678T>C	6.37:g.109802552A>G							p.S226S	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	845	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	226					Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	c.678T>C	CCDS34509.1																																																																																				0.453	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		67	117	0	0	0	1	0	67	117				
APBA2	321	broad.mit.edu	37	15	29368262	29368262	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:29368262A>C	ENST00000558402.1	+	7	1636	c.1037A>C	c.(1036-1038)aAg>aCg	p.K346T	APBA2_ENST00000561069.1_Missense_Mutation_p.K346T|APBA2_ENST00000558259.1_Missense_Mutation_p.K346T|APBA2_ENST00000558330.1_Missense_Mutation_p.K346T|APBA2_ENST00000411764.1_Missense_Mutation_p.K346T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	346					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TAACAGACAAAGAAGGTGGCA	0.368																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1036-1038)aAg>aCg		amyloid beta (A4) precursor protein-binding, family A, member 2							185.0	184.0	184.0					15																	29368262		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29368262A>C	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1037A>C	15.37:g.29368262A>C	ENSP00000453293:p.Lys346Thr					APBA2_ENST00000558259.1_Missense_Mutation_p.K346T|APBA2_ENST00000558330.1_Missense_Mutation_p.K346T|APBA2_ENST00000561069.1_Missense_Mutation_p.K346T|APBA2_ENST00000411764.1_Missense_Mutation_p.K346T	p.K346T			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	7	1636	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	346					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1037A>C	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.171088	0.57584	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.08546	3.08	4.85	4.85	0.62838	.	0.056772	0.64402	D	0.000003	T	0.13243	0.0321	M	0.65975	2.015	0.80722	D	1	P;P;B;B	0.46706	0.54;0.883;0.349;0.075	B;B;B;B	0.42851	0.309;0.4;0.185;0.028	T	0.01375	-1.1371	10	0.62326	D	0.03	.	12.4034	0.55426	1.0:0.0:0.0:0.0	.	346;50;346;346	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	T	346;346;50	ENSP00000409312:K346T	ENSP00000219865:K346T	K	+	2	0	APBA2	27155554	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.989000	0.76219	1.821000	0.53095	0.533000	0.62120	AAG		0.368	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		5	67	0	0	0	1	0	5	67				
SACS	26278	broad.mit.edu	37	13	23904369	23904369	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23904369T>G	ENST00000382292.3	-	9	13919	c.13646A>C	c.(13645-13647)aAt>aCt	p.N4549T	SACS_ENST00000382298.3_Missense_Mutation_p.N4549T|SACS_ENST00000402364.1_Missense_Mutation_p.N3799T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4549	HEPN. {ECO:0000255|PROSITE- ProRule:PRU00105}.		N -> D (in SACS). {ECO:0000269|PubMed:15156359}.		cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAACCTGTCATTTGGGATCTG	0.373																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(13645-13647)aAt>aCt		spastic ataxia of Charlevoix-Saguenay (sacsin)							131.0	121.0	125.0					13																	23904369		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23904369T>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13646A>C	13.37:g.23904369T>G	ENSP00000371729:p.Asn4549Thr					SACS_ENST00000402364.1_Missense_Mutation_p.N3799T|SACS_ENST00000382292.3_Missense_Mutation_p.N4549T	p.N4549T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	14234	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4549		N -> D (in SACS).	HEPN.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.13646A>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488110	0.84854	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.85629	-2.01;-2.01;-2.01	5.85	5.85	0.93711	HEPN (3);	0.000000	0.85682	D	0.000000	D	0.89389	0.6701	L	0.39898	1.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90172	0.4236	10	0.62326	D	0.03	.	16.2271	0.82306	0.0:0.0:0.0:1.0	.	4549	Q9NZJ4	SACS_HUMAN	T	4549;3799;4549	ENSP00000371729:N4549T;ENSP00000385844:N3799T;ENSP00000371735:N4549T	ENSP00000371729:N4549T	N	-	2	0	SACS	22802369	1.000000	0.71417	0.871000	0.34182	0.860000	0.49131	8.040000	0.89188	2.234000	0.73211	0.460000	0.39030	AAT		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		22	49	0	0	0	1	0	22	49				
TNFSF13B	10673	broad.mit.edu	37	13	108922412	108922412	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:108922412C>T	ENST00000375887.4	+	1	347	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	TNFSF13B_ENST00000542136.1_Silent_p.L57L|TNFSF13B_ENST00000430559.1_Silent_p.L57L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	57					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	GCTGGCACTGCTGTCTTGCTG	0.622																																						ENST00000375887.4																			0				large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(169-171)Ctg>Ttg		tumor necrosis factor (ligand) superfamily, member 13b							114.0	118.0	117.0					13																	108922412		2203	4300	6503	SO:0001819	synonymous_variant	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108922412C>T	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.169C>T	13.37:g.108922412C>T						TNFSF13B_ENST00000542136.1_Silent_p.L57L|TNFSF13B_ENST00000430559.1_Silent_p.L57L	p.L57L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		1	347	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		57					E0ADT7|Q6FHD6|Q7Z5J2	Silent	SNP	ENST00000375887.4	37	c.169C>T	CCDS9509.1																																																																																				0.622	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3			30	147	0	0	0	1	0	30	147				
THAP9	79725	broad.mit.edu	37	4	83839057	83839057	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:83839057A>G	ENST00000302236.5	+	5	1743	c.1692A>G	c.(1690-1692)caA>caG	p.Q564Q	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	564					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCAATAATCAAATAATTAAAG	0.348																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(1690-1692)caA>caG		THAP domain containing 9							42.0	43.0	42.0					4																	83839057		2203	4296	6499	SO:0001819	synonymous_variant	79725						DNA binding|metal ion binding	g.chr4:83839057A>G	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1692A>G	4.37:g.83839057A>G						LIN54_ENST00000505905.1_Intron	p.Q564Q	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	1743	+		Hepatocellular(203;0.114)	564					B3KRE2|Q59AC9	Silent	SNP	ENST00000302236.5	37	c.1692A>G	CCDS3598.1																																																																																				0.348	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		21	29	0	0	0	1	0	21	29				
SMARCA2	6595	broad.mit.edu	37	9	2191349	2191349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:2191349C>T	ENST00000382203.1	+	33	4887	c.4678C>T	c.(4678-4680)Cga>Tga	p.R1560*	SMARCA2_ENST00000382186.1_Nonsense_Mutation_p.R224*|SMARCA2_ENST00000302401.3_Nonsense_Mutation_p.R248*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.R1560*|SMARCA2_ENST00000324954.5_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000382185.1_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.R1542*|SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.R1542*			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1560					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGGCCAAATCGAGGAAAAGC	0.458																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4678-4680)Cga>Tga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							178.0	139.0	152.0					9																	2191349		2203	4300	6503	SO:0001587	stop_gained	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2191349C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4678C>T	9.37:g.2191349C>T	ENSP00000371638:p.Arg1560*					SMARCA2_ENST00000382185.1_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000302401.3_Nonsense_Mutation_p.R248*|SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.R1542*|SMARCA2_ENST00000382186.1_Nonsense_Mutation_p.R224*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.R1560*|SMARCA2_ENST00000324954.5_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.R1542*	p.R1560*			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	33	4887	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1560					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Nonsense_Mutation	SNP	ENST00000382203.1	37	c.4678C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	45	11.832411	0.99608	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000302401;ENST00000324954;ENST00000382186;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000382182	.	.	.	5.71	4.81	0.61882	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-16.1751	12.963	0.58468	0.1288:0.7473:0.1239:0.0	.	.	.	.	X	1560;1542;1560;1542;248;206;224;246;206;206;89	.	ENSP00000305411:R248X	R	+	1	2	SMARCA2	2181349	0.995000	0.38212	0.998000	0.56505	0.957000	0.61999	2.011000	0.40922	1.397000	0.46682	-0.182000	0.12963	CGA		0.458	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		31	48	0	0	0	1	0	31	48				
AHNAK2	113146	broad.mit.edu	37	14	105413705	105413705	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105413705C>T	ENST00000333244.5	-	7	8202	c.8083G>A	c.(8083-8085)Gac>Aac	p.D2695N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2695						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)			ATGCTGATGTCAGTGGTCTTA	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8083-8085)Gac>Aac		AHNAK nucleoprotein 2							155.0	169.0	165.0					14																	105413705		2004	4178	6182	SO:0001583	missense	113146					nucleus		g.chr14:105413705C>T	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.8083G>A	14.37:g.105413705C>T	ENSP00000353114:p.Asp2695Asn					AHNAK2_ENST00000557457.1_Intron	p.D2695N	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	8202	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2695					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8083G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	14.30	2.494624	0.44352	.	.	ENSG00000185567	ENST00000333244	T	0.00912	5.55	3.28	0.051	0.14296	.	.	.	.	.	T	0.02230	0.0069	M	0.81341	2.54	0.09310	N	1	D	0.56035	0.974	P	0.47402	0.546	T	0.41052	-0.9530	9	0.28530	T	0.3	-11.3193	9.8054	0.40791	0.1484:0.2675:0.5841:0.0	.	2695	Q8IVF2	AHNK2_HUMAN	N	2695	ENSP00000353114:D2695N	ENSP00000353114:D2695N	D	-	1	0	AHNAK2	104484750	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.967000	0.29344	-0.447000	0.07138	-0.676000	0.03789	GAC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		12	281	0	0	0	1	0	12	281				
ZNF229	7772	broad.mit.edu	37	19	44933963	44933963	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44933963T>C	ENST00000588931.1	-	6	1426	c.993A>G	c.(991-993)agA>agG	p.R331R	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Silent_p.R325R	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCGTGTTCTGTCTGACGCCCC	0.507																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(973-975)agA>agG		zinc finger protein 229							63.0	61.0	62.0					19																	44933963		1945	4150	6095	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933963T>C	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.993A>G	19.37:g.44933963T>C						ZNF229_ENST00000588931.1_Silent_p.R331R|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	p.R325R	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	1297	-		Prostate(69;0.0352)	331					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.975A>G	CCDS42574.1																																																																																				0.507	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		5	64	0	0	0	1	0	5	64				
RLF	6018	broad.mit.edu	37	1	40705776	40705776	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40705776C>A	ENST00000372771.4	+	8	5429	c.5402C>A	c.(5401-5403)tCt>tAt	p.S1801Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1801					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|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(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTAAGTAATTCTTCACAGTCC	0.358																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(5401-5403)tCt>tAt		rearranged L-myc fusion							93.0	92.0	92.0					1																	40705776		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40705776C>A		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5402C>A	1.37:g.40705776C>A	ENSP00000361857:p.Ser1801Tyr						p.S1801Y	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	5429	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1801					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.5402C>A	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572816	0.28092	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.16196	2.36	5.35	5.35	0.76521	.	0.174682	0.51477	D	0.000091	T	0.27241	0.0668	L	0.34521	1.04	0.43688	D	0.996138	D;P	0.54964	0.969;0.947	P;P	0.54100	0.742;0.556	T	0.00546	-1.1678	10	0.87932	D	0	-14.5093	19.6142	0.95626	0.0:1.0:0.0:0.0	.	1494;1801	F5H2M5;Q13129	.;RLF_HUMAN	Y	1801;1494	ENSP00000361857:S1801Y	ENSP00000361857:S1801Y	S	+	2	0	RLF	40478363	0.013000	0.17824	1.000000	0.80357	0.915000	0.54546	0.535000	0.23114	2.941000	0.99782	0.655000	0.94253	TCT		0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		39	48	1	0	4.92203e-23	1	6.86763e-23	39	48				
SYNJ1	8867	broad.mit.edu	37	21	34003475	34003475	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34003475A>C	ENST00000322229.7	-	31	4551	c.4552T>G	c.(4552-4554)Ttg>Gtg	p.L1518V	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L1471V|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1557V|SYNJ1_ENST00000357345.3_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1518	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCATCATTCAATGTCAGGTTG	0.493																																						ENST00000382491.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(4411-4413)Ttg>Gtg		synaptojanin 1							130.0	123.0	126.0					21																	34003475		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003475A>C	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4552T>G	21.37:g.34003475A>C	ENSP00000322234:p.Leu1518Val					SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1557V|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L1518V	p.L1471V	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN			28	4535	-			1518			Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.4411T>G	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.64|12.64	1.998713|1.998713	0.35226|0.35226	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000479254;ENST00000490462;ENST00000478228|ENST00000382491;ENST00000433931;ENST00000322229	.|T;T;T	.|0.27256	.|1.68;1.68;1.68	4.59|4.59	-0.655|-0.655	0.11439|0.11439	.|.	.|0.584388	.|0.15725	.|N	.|0.247725	T|T	0.13798|0.13798	0.0334|0.0334	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.15870	.|0.014	T|T	0.16660|0.16660	-1.0395|-1.0395	5|10	.|0.54805	.|T	.|0.06	.|.	4.9296|4.9296	0.13910|0.13910	0.5431:0.0:0.3247:0.1322|0.5431:0.0:0.3247:0.1322	.|.	.|1518	.|O43426	.|SYNJ1_HUMAN	Q|V	32|1471;1557;1518	.|ENSP00000371931:L1471V;ENSP00000409667:L1557V;ENSP00000322234:L1518V	.|ENSP00000322234:L1518V	H|L	-|-	3|1	2|2	SYNJ1|SYNJ1	32925346|32925346	0.005000|0.005000	0.15991|0.15991	0.004000|0.004000	0.12327|0.12327	0.753000|0.753000	0.42808|0.42808	0.444000|0.444000	0.21661|0.21661	-0.133000|-0.133000	0.11537|0.11537	0.533000|0.533000	0.62120|0.62120	CAT|TTG		0.493	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				16	72	0	0	0	1	0	16	72				
DCC	1630	broad.mit.edu	37	18	50731697	50731697	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50731697G>T	ENST00000442544.2	+	10	2301	c.1685G>T	c.(1684-1686)aGa>aTa	p.R562I	DCC_ENST00000581580.1_Missense_Mutation_p.R217I|DCC_ENST00000412726.1_Missense_Mutation_p.R410I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	562	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAAGGTTACAGATTGTTCTGC	0.488																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1684-1686)aGa>aTa		deleted in colorectal carcinoma							200.0	181.0	188.0					18																	50731697		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50731697G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1685G>T	18.37:g.50731697G>T	ENSP00000389140:p.Arg562Ile					DCC_ENST00000581580.1_Missense_Mutation_p.R217I|DCC_ENST00000412726.1_Missense_Mutation_p.R410I	p.R562I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	10	2301	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	562			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1685G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496606	0.44352	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.58797	0.31;0.31	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	L	0.31926	0.97	0.80722	D	1	B;B;D	0.76494	0.238;0.238;0.999	B;B;D	0.79108	0.223;0.159;0.992	T	0.70802	-0.4773	10	0.87932	D	0	.	18.7793	0.91925	0.0:0.0:1.0:0.0	.	410;410;562	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	I	562;495;410	ENSP00000389140:R562I;ENSP00000397322:R410I	ENSP00000304146:R495I	R	+	2	0	DCC	48985695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.952000	0.63618	2.722000	0.93159	0.655000	0.94253	AGA		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		71	111	1	0	3.58576e-35	1	5.15276e-35	71	111				
SNAP91	9892	broad.mit.edu	37	6	84302200	84302200	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84302200G>T	ENST00000439399.2	-	21	2220	c.1904C>A	c.(1903-1905)tCt>tAt	p.S635Y	SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.S635Y|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000195649.6_Missense_Mutation_p.S635Y|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000428679.2_Missense_Mutation_p.S635Y|SNAP91_ENST00000521743.1_Missense_Mutation_p.S635Y	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	635					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GACACCTGAAGAATCCACCTT	0.423																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1903-1905)tCt>tAt		synaptosomal-associated protein, 91kDa							46.0	48.0	47.0					6																	84302200		1966	4154	6120	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84302200G>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1904C>A	6.37:g.84302200G>T	ENSP00000400459:p.Ser635Tyr					SNAP91_ENST00000521743.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000195649.6_Missense_Mutation_p.S635Y|SNAP91_ENST00000439399.2_Missense_Mutation_p.S635Y|SNAP91_ENST00000369694.2_Missense_Mutation_p.S635Y	p.S635Y			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	21	2497	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	635					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1904C>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046580	0.55110	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000521743;ENST00000521931	T;T;T;T;T;T;T	0.33865	2.36;2.38;2.38;2.36;2.4;2.38;1.39	5.66	4.8	0.61643	.	0.158083	0.45606	D	0.000351	T	0.46034	0.1372	L	0.57536	1.79	0.80722	D	1	P;D	0.69078	0.561;0.997	B;D	0.69824	0.126;0.966	T	0.52540	-0.8562	10	0.87932	D	0	-11.0686	14.6125	0.68526	0.0701:0.0:0.9299:0.0	.	516;633	B7Z2N2;E1P549	.;.	Y	635;635;635;635;635;635;448	ENSP00000429776:S635Y;ENSP00000358708:S635Y;ENSP00000400459:S635Y;ENSP00000195649:S635Y;ENSP00000412492:S635Y;ENSP00000428215:S635Y;ENSP00000430071:S448Y	ENSP00000195649:S635Y	S	-	2	0	SNAP91	84358919	1.000000	0.71417	0.986000	0.45419	0.971000	0.66376	7.126000	0.77201	1.406000	0.46857	0.650000	0.86243	TCT		0.423	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			6	13	1	0	2.7689e-08	1	3.25926e-08	6	13				
OR6T1	219874	broad.mit.edu	37	11	123814421	123814421	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123814421T>G	ENST00000321252.2	-	1	159	c.125A>C	c.(124-126)aAg>aCg	p.K42T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AATTAGCAGCTTGCCTGTGGC	0.488																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(124-126)aAg>aCg		olfactory receptor, family 6, subfamily T, member 1							125.0	117.0	120.0					11																	123814421		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814421T>G	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.125A>C	11.37:g.123814421T>G	ENSP00000325203:p.Lys42Thr						p.K42T	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	159	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	42					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.125A>C	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.281735	0.23392	.	.	ENSG00000181499	ENST00000321252	T	0.36520	1.25	3.74	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.22513	0.0543	N	0.12182	0.205	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.17930	-1.0353	9	0.87932	D	0	-54.3112	10.4275	0.44387	0.0:0.0:0.0:1.0	.	42	Q8NGN1	OR6T1_HUMAN	T	42	ENSP00000325203:K42T	ENSP00000325203:K42T	K	-	2	0	OR6T1	123319631	1.000000	0.71417	0.355000	0.25773	0.495000	0.33615	6.404000	0.73268	1.562000	0.49601	0.533000	0.62120	AAG		0.488	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		9	135	0	0	0	1	0	9	135				
FNDC4	64838	broad.mit.edu	37	2	27716803	27716803	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27716803T>G	ENST00000264703.3	-	4	839	c.448A>C	c.(448-450)Agc>Cgc	p.S150R	GCKR_ENST00000424318.2_5'Flank|GCKR_ENST00000264717.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	150						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCACCTGGGCTTGAACTGTTT	0.562																																						ENST00000264703.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9						c.(448-450)Agc>Cgc		fibronectin type III domain containing 4							70.0	75.0	73.0					2																	27716803		2203	4300	6503	SO:0001583	missense	64838					integral to membrane		g.chr2:27716803T>G	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.448A>C	2.37:g.27716803T>G	ENSP00000264703:p.Ser150Arg						p.S150R	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN			4	839	-	Acute lymphoblastic leukemia(172;0.155)		150					D6W560	Missense_Mutation	SNP	ENST00000264703.3	37	c.448A>C	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	T	6.657	0.489652	0.12702	.	.	ENSG00000115226	ENST00000264703	T	0.07327	3.2	5.46	4.31	0.51392	.	0.041457	0.85682	D	0.000000	T	0.04497	0.0123	N	0.08118	0	0.35496	D	0.799407	B	0.28128	0.201	B	0.21360	0.034	T	0.37291	-0.9712	10	0.46703	T	0.11	-30.2287	10.4092	0.44282	0.0:0.0781:0.0:0.9219	.	150	Q9H6D8	FNDC4_HUMAN	R	150	ENSP00000264703:S150R	ENSP00000264703:S150R	S	-	1	0	FNDC4	27570307	1.000000	0.71417	0.982000	0.44146	0.428000	0.31595	4.328000	0.59253	0.899000	0.36444	-0.400000	0.06385	AGC		0.562	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		23	54	0	0	0	1	0	23	54				
PHC2	1912	broad.mit.edu	37	1	33796962	33796962	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33796962C>T	ENST00000257118.5	-	11	2043	c.1990G>A	c.(1990-1992)Gct>Act	p.A664T	PHC2_ENST00000431992.1_Missense_Mutation_p.A635T|PHC2_ENST00000419414.2_Missense_Mutation_p.A665T|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000373422.3_Missense_Mutation_p.A270T|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.A129T|PHC2_ENST00000373416.1_Missense_Mutation_p.A129T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	664					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTTGCACAAGCCATGGAACAG	0.547																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1990-1992)Gct>Act		polyhomeotic homolog 2 (Drosophila)							104.0	111.0	109.0					1																	33796962		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33796962C>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1990G>A	1.37:g.33796962C>T	ENSP00000257118:p.Ala664Thr					PHC2_ENST00000373418.3_Missense_Mutation_p.A129T|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.A635T|PHC2_ENST00000419414.2_Missense_Mutation_p.A665T|PHC2_ENST00000373416.1_Missense_Mutation_p.A129T|PHC2_ENST00000373422.3_Missense_Mutation_p.A270T	p.A664T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			11	2043	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	664					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1990G>A	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012743	0.93346	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.85	5.85	0.93711	Zinc finger, FCS-type (1);	0.113194	0.64402	D	0.000010	T	0.26412	0.0645	L	0.33093	0.98	0.43025	D	0.994586	P;P;P;P	0.37731	0.473;0.473;0.473;0.607	B;B;B;B	0.30782	0.056;0.056;0.056;0.12	T	0.07558	-1.0766	10	0.12766	T	0.61	-12.2817	11.0032	0.47618	0.0:0.9162:0.0:0.0838	.	665;636;664;79	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	T	635;664;270;129;242;665;129	ENSP00000389436:A635T;ENSP00000257118:A664T;ENSP00000362521:A270T;ENSP00000362517:A129T;ENSP00000391440:A665T;ENSP00000362515:A129T	ENSP00000257118:A664T	A	-	1	0	PHC2	33569549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.904000	0.48719	2.771000	0.95319	0.561000	0.74099	GCT		0.547	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		33	85	0	0	0	1	0	33	85				
HEPH	9843	broad.mit.edu	37	X	65418735	65418735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:65418735G>T	ENST00000343002.2	+	10	2393	c.1729G>T	c.(1729-1731)Gaa>Taa	p.E577*	HEPH_ENST00000374727.3_Nonsense_Mutation_p.E580*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.E310*|HEPH_ENST00000519389.1_Nonsense_Mutation_p.E631*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.E580*|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	577	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGTGGATAAAGAATTCTTTCT	0.438																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1891-1893)Gaa>Taa		hephaestin							141.0	121.0	128.0					X																	65418735		2203	4300	6503	SO:0001587	stop_gained	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65418735G>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1729G>T	X.37:g.65418735G>T	ENSP00000343939:p.Glu577*					HEPH_ENST00000374727.3_Nonsense_Mutation_p.E580*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.E310*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.E580*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.E577*|HEPH_ENST00000419594.1_Intron	p.E631*			Q9BQS7	HEPH_HUMAN			11	2070	+			577			Plastocyanin-like 4.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Nonsense_Mutation	SNP	ENST00000343002.2	37	c.1891G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.510436	0.97624	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.9157	0.70795	0.0:0.0:1.0:0.0	.	.	.	.	X	631;580;310;580;577;534	.	ENSP00000337418:E310X	E	+	1	0	HEPH	65335460	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.212000	0.89756	1.806000	0.52798	0.271000	0.19318	GAA		0.438	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		5	92	1	0	0.00116845	1	0.00122532	5	92				
AFF2	2334	broad.mit.edu	37	X	147924957	147924957	+	Splice_Site	SNP	C	C	A	rs201881045		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:147924957C>A	ENST00000370460.2	+	7	1741	c.1262C>A	c.(1261-1263)tCg>tAg	p.S421*	AFF2_ENST00000286437.5_Splice_Site_p.S62*|AFF2_ENST00000370458.1_Intron|AFF2_ENST00000342251.3_Splice_Site_p.S388*|AFF2_ENST00000370457.5_Splice_Site_p.S388*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	421					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTCAAATCGTGAGTAGTT	0.408																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.e7+1		AF4/FMR2 family, member 2							131.0	110.0	117.0					X																	147924957		2203	4300	6503	SO:0001630	splice_region_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147924957C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1262+1C>A	X.37:g.147924957C>A						AFF2_ENST00000342251.3_Splice_Site_p.S388_splice|AFF2_ENST00000370457.5_Splice_Site_p.S388_splice|AFF2_ENST00000286437.5_Splice_Site_p.S62_splice|AFF2_ENST00000370458.1_Intron	p.S421_splice	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			7	1741	+	Acute lymphoblastic leukemia(192;6.56e-05)		421					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Splice_Site	SNP	ENST00000370460.2	37	c.1262_splice	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	41	9.116989	0.99071	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	.	.	.	5.74	0.998	0.19857	.	0.954162	0.08661	N	0.912502	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9146	0.35574	0.0:0.6304:0.0:0.3696	.	.	.	.	X	421;388;388;62	.	ENSP00000286437:S62X	S	+	2	0	AFF2	147732649	1.000000	0.71417	0.001000	0.08648	0.821000	0.46438	0.660000	0.25009	-0.253000	0.09514	0.540000	0.68198	TCG		0.408	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Nonsense_Mutation	24	43	1	0	2.21704e-12	1	2.79328e-12	24	43				
CIT	11113	broad.mit.edu	37	12	120195211	120195211	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120195211C>A	ENST00000261833.7	-	21	2596	c.2544G>T	c.(2542-2544)aaG>aaT	p.K848N	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.K890N	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	848					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCAGCCGATTCTTGTCACTGT	0.547																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(2668-2670)aaG>aaT		citron (rho-interacting, serine/threonine kinase 21)							267.0	258.0	261.0					12																	120195211		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120195211C>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2544G>T	12.37:g.120195211C>A	ENSP00000261833:p.Lys848Asn					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.K848N	p.K890N	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	22	2725	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	848					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2670G>T	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.807555|3.807555	0.70797|0.70797	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.68181|.	-0.16;-0.31|.	5.54|5.54	3.7|3.7	0.42460|0.42460	.|.	0.064498|.	0.64402|.	D|.	0.000003|.	T|T	0.42494|0.42494	0.1205|0.1205	N|N	0.24115|0.24115	0.695|0.695	0.52501|0.52501	D|D	0.999959|0.999959	D;P;P|.	0.53619|.	0.961;0.952;0.728|.	P;P;P|.	0.49637|.	0.617;0.521;0.447|.	T|T	0.20371|0.20371	-1.0277|-1.0277	10|5	0.54805|.	T|.	0.06|.	.|.	9.7579|9.7579	0.40515|0.40515	0.0:0.7862:0.0:0.2138|0.0:0.7862:0.0:0.2138	.|.	890;848;381|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	N|I	890;848|476	ENSP00000376306:K890N;ENSP00000261833:K848N|.	ENSP00000261833:K848N|.	K|R	-|-	3|2	2|0	CIT|CIT	118679594|118679594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.848000|1.848000	0.39309|0.39309	1.345000|1.345000	0.45676|0.45676	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.547	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		6	374	1	0	0.0215528	1	0.0219788	6	374				
MYPN	84665	broad.mit.edu	37	10	69935124	69935124	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69935124C>T	ENST00000358913.5	+	12	3097	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L	MYPN_ENST00000540630.1_Missense_Mutation_p.P870L|MYPN_ENST00000354393.2_Missense_Mutation_p.P595L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	870					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCTCCTCAACCAGTGAATGAT	0.423																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(2608-2610)cCa>cTa		myopalladin							101.0	95.0	97.0					10																	69935124		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69935124C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2609C>T	10.37:g.69935124C>T	ENSP00000351790:p.Pro870Leu					MYPN_ENST00000354393.2_Missense_Mutation_p.P595L|MYPN_ENST00000540630.1_Missense_Mutation_p.P870L	p.P870L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			12	3097	+			870					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2609C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	6.165	0.398674	0.11696	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.55413	0.52;0.61;0.58	5.87	3.95	0.45737	.	0.411719	0.27668	N	0.018360	T	0.20700	0.0498	N	0.02011	-0.69	0.38094	D	0.937041	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.09907	-1.0653	9	.	.	.	.	5.9226	0.19091	0.0:0.6341:0.0:0.3659	.	870;595;870	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	L	595;595;870;870	ENSP00000346369:P595L;ENSP00000351790:P870L;ENSP00000441668:P870L	.	P	+	2	0	MYPN	69605130	0.052000	0.20516	1.000000	0.80357	0.999000	0.98932	1.073000	0.30691	1.561000	0.49584	0.655000	0.94253	CCA		0.423	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		14	32	0	0	0	1	0	14	32				
NLRP11	204801	broad.mit.edu	37	19	56329275	56329275	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56329275C>T	ENST00000589093.1	-	2	359	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000443188.1_Missense_Mutation_p.R89Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.R89Q|NLRP11_ENST00000589824.2_Missense_Mutation_p.R89Q			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	89	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCACGGTTTCGTCTGCCAAT	0.418																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(265-267)cGa>cAa		NLR family, pyrin domain containing 11							96.0	88.0	91.0					19																	56329275		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56329275C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.266G>A	19.37:g.56329275C>T	ENSP00000466285:p.Arg89Gln					NLRP11_ENST00000589093.1_Missense_Mutation_p.R89Q|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.R89Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.R89Q	p.R89Q	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	976	-		Colorectal(82;0.0002)	89			DAPIN.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.266G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548556	0.27652	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.57273	0.41;0.41	2.5	0.265	0.15612	Pyrin (1);DEATH-like (2);	.	.	.	.	T	0.36524	0.0970	L	0.39898	1.24	0.09310	N	1	P	0.43519	0.809	B	0.39503	0.301	T	0.15838	-1.0423	9	0.25751	T	0.34	.	4.7859	0.13225	0.0:0.6816:0.0:0.3184	.	89	P59045	NAL11_HUMAN	Q	89	ENSP00000409898:R89Q;ENSP00000353251:R89Q	ENSP00000353251:R89Q	R	-	2	0	NLRP11	61021087	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.511000	0.22739	0.149000	0.19098	-0.156000	0.13503	CGA		0.418	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		27	39	0	0	0	1	0	27	39				
XPO5	57510	broad.mit.edu	37	6	43501728	43501728	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:43501728A>G	ENST00000265351.7	-	21	2569	c.2359T>C	c.(2359-2361)Tat>Cat	p.Y787H		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	787					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCTGGTGCATATAATGTATTG	0.403																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(2359-2361)Tat>Cat		exportin 5							132.0	127.0	128.0					6																	43501728		1844	4086	5930	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43501728A>G	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2359T>C	6.37:g.43501728A>G	ENSP00000265351:p.Tyr787His						p.Y787H	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		21	2569	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		787					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.2359T>C	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.521926	0.85600	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.66815	-0.23	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.059910	0.64402	D	0.000001	T	0.63498	0.2516	M	0.61703	1.905	0.46586	D	0.999119	D	0.67145	0.996	P	0.57548	0.823	T	0.64931	-0.6291	10	0.08837	T	0.75	-15.0627	15.5608	0.76244	1.0:0.0:0.0:0.0	.	787	Q9HAV4	XPO5_HUMAN	H	787;492;327;415	ENSP00000265351:Y787H	ENSP00000265351:Y787H	Y	-	1	0	XPO5	43609706	1.000000	0.71417	0.995000	0.50966	0.877000	0.50540	7.951000	0.87819	2.076000	0.62316	0.459000	0.35465	TAT		0.403	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		23	51	0	0	0	1	0	23	51				
DIAPH2	1730	broad.mit.edu	37	X	96192338	96192338	+	Missense_Mutation	SNP	G	G	A	rs41300144		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:96192338G>A	ENST00000324765.8	+	11	1543	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	DIAPH2_ENST00000373054.4_Missense_Mutation_p.R395Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R399Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	399	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.R399Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATGACATTCGAGCAGAAATG	0.338													G|||	1	0.000264901	0.0	0.0	3775	,	,		13913	0.0		0.001	False		,,,				2504	0.0					ENST00000324765.8																			1	Substitution - Missense(1)	p.R399Q(1)	large_intestine(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1195-1197)cGa>cAa		diaphanous-related formin 2		G	GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	70.0	57.0	62.0		1196,1196	4.5	1.0	X	dbSNP_127	62	1,6727		0,1,2427,1872	no	missense,missense	DIAPH2	NM_006729.4,NM_007309.3	43,43	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	399/1102,399/1097	96192338	1,10562	2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96192338G>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1196G>A	X.37:g.96192338G>A	ENSP00000321348:p.Arg399Gln					DIAPH2_ENST00000355827.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R395Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R399Q	p.R399Q			O60879	DIAP2_HUMAN			11	1543	+			399			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.1196G>A	CCDS14467.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.18	2.756264	0.49362	0.0	1.49E-4	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	4.48	4.48	0.54585	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000017	D	0.86636	0.5980	L	0.48174	1.505	0.39104	D	0.961347	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.75484	0.986;0.876;0.924	D	0.88000	0.2755	10	0.72032	D	0.01	.	10.172	0.42915	0.1601:0.0:0.8399:0.0	rs41300144	399;399;406	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	Q	399;395;399;399;399;406	ENSP00000362152:R399Q;ENSP00000362145:R395Q;ENSP00000348082:R399Q;ENSP00000362140:R399Q;ENSP00000321348:R399Q	ENSP00000321348:R399Q	R	+	2	0	DIAPH2	96078994	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.051000	0.64257	1.957000	0.56846	0.284000	0.19432	CGA		0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		9	28	0	0	0	1	0	9	28				
IL1B	3553	broad.mit.edu	37	2	113590973	113590973	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113590973G>T	ENST00000263341.2	-	4	489	c.279C>A	c.(277-279)ttC>ttA	p.F93L	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	93					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	TGAAGGGAAAGAAGGTGCTCA	0.532																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(277-279)ttC>ttA		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						106.0	97.0	100.0					2																	113590973		2203	4300	6503	SO:0001583	missense	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113590973G>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.279C>A	2.37:g.113590973G>T	ENSP00000263341:p.Phe93Leu					IL1B_ENST00000491056.1_5'UTR	p.F93L	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			4	489	-			93					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.279C>A	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	7.954	0.745572	0.15710	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.89	2.05	0.26809	Interleukin-1 propeptide (1);	1.048650	0.07442	N	0.897468	T	0.19725	0.0474	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21280	-1.0250	10	0.02654	T	1	-19.2338	8.6342	0.33936	0.0859:0.2929:0.6212:0.0	.	93	P01584	IL1B_HUMAN	L	93	ENSP00000263341:F93L;ENSP00000407219:F93L;ENSP00000409680:F93L;ENSP00000400854:F93L	ENSP00000263341:F93L	F	-	3	2	IL1B	113307444	0.373000	0.25073	0.001000	0.08648	0.408000	0.30992	0.217000	0.17603	0.340000	0.23745	-1.268000	0.01426	TTC		0.532	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		36	51	1	0	2.09667e-21	1	2.89385e-21	36	51				
GALNT9	50614	broad.mit.edu	37	12	132688051	132688051	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:132688051G>A	ENST00000328957.8	-	7	1261	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	GALNT9_ENST00000535228.1_Splice_Site_p.S172L|GALNT9_ENST00000541995.1_Splice_Site_p.S55L|GALNT9_ENST00000397325.2_Splice_Site_p.S55L	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	421					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S421L(1)|p.S55L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGGACTCACCGACATGGGGAT	0.682																																					Colon(186;2147 2752 13553 41466)	ENST00000328957.8																			2	Substitution - Missense(2)	p.S421L(1)|p.S55L(1)	lung(2)	breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.e7+1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)							43.0	46.0	45.0					12																	132688051		2073	4199	6272	SO:0001630	splice_region_variant	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132688051G>A	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1263+1C>T	12.37:g.132688051G>A						GALNT9_ENST00000535228.1_Splice_Site_p.S172_splice|GALNT9_ENST00000541995.1_Splice_Site_p.S55_splice|GALNT9_ENST00000397325.2_Splice_Site_p.S55_splice	p.S421_splice	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	7	1261	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	421					Q52LR8|Q6NT54|Q8NFR1	Splice_Site	SNP	ENST00000328957.8	37	c.1263_splice		.	.	.	.	.	.	.	.	.	.	g	12.27	1.887299	0.33348	.	.	ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995;ENST00000538356	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	3.87	2.97	0.34412	.	0.220504	0.45126	D	0.000382	T	0.47728	0.1461	N	0.12182	0.205	0.21719	N	0.999571	B;B;B	0.20887	0.049;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30268	-0.9984	10	0.30854	T	0.27	.	8.4984	0.33144	0.0883:0.1557:0.756:0.0	.	172;421;278	B3KNR7;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	L	55;421;172;55;55	ENSP00000380488:S55L;ENSP00000329846:S421L;ENSP00000439745:S172L;ENSP00000440544:S55L;ENSP00000444709:S55L	ENSP00000329846:S421L	S	-	2	0	GALNT9	131254004	0.998000	0.40836	0.565000	0.28409	0.375000	0.29983	2.717000	0.47227	0.714000	0.32081	0.448000	0.29417	TCG		0.682	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636	Missense_Mutation	21	26	0	0	0	1	0	21	26				
C8B	732	broad.mit.edu	37	1	57425735	57425735	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:57425735A>G	ENST00000371237.4	-	2	273	c.207T>C	c.(205-207)agT>agC	p.S69S	C8B_ENST00000543257.1_Silent_p.S17S|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000494324.1_Intron	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	69	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.S69R(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AAGAGGACCAACTAGACAGCT	0.507																																						ENST00000543257.1																			1	Substitution - Missense(1)	p.S69R(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(49-51)agT>agC		complement component 8, beta polypeptide							146.0	119.0	128.0					1																	57425735		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57425735A>G	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.207T>C	1.37:g.57425735A>G						C8B_ENST00000371237.4_Silent_p.S69S|C8B_ENST00000494324.1_Intron|C8B_ENST00000535057.1_5'UTR	p.S17S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			3	617	-			69					A1L4K7	Silent	SNP	ENST00000371237.4	37	c.51T>C	CCDS30730.1																																																																																				0.507	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			17	46	0	0	0	1	0	17	46				
ZNF99	7652	broad.mit.edu	37	19	22940624	22940624	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22940624T>G	ENST00000596209.1	-	4	2177	c.2087A>C	c.(2086-2088)aAg>aCg	p.K696T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K605T|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	696					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGAATTATCTTATGTTTCCT	0.363																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1813-1815)aAg>aCg		zinc finger protein 99							44.0	47.0	46.0					19																	22940624		2061	4220	6281	SO:0001583	missense	7652							g.chr19:22940624T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2087A>C	19.37:g.22940624T>G	ENSP00000472969:p.Lys696Thr					ZNF99_ENST00000596209.1_Missense_Mutation_p.K696T	p.K605T							5	1813	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1814A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	10.78	1.447973	0.26074	.	.	ENSG00000213973	ENST00000397104	T	0.51817	0.69	0.726	-0.425	0.12317	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35307	0.0927	N	0.16903	0.455	0.24955	N	0.991769	P	0.36465	0.554	P	0.45506	0.483	T	0.36480	-0.9746	9	0.72032	D	0.01	.	4.9238	0.13883	0.0:0.2065:0.0:0.7935	.	605	A8MXY4	ZNF99_HUMAN	T	605	ENSP00000380293:K605T	ENSP00000380293:K605T	K	-	2	0	ZNF99	22732464	0.000000	0.05858	0.010000	0.14722	0.265000	0.26407	0.148000	0.16224	-0.215000	0.10063	0.329000	0.21502	AAG		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		27	50	0	0	0	1	0	27	50				
APOBEC3F	200316	broad.mit.edu	37	22	39441500	39441500	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:39441500C>T	ENST00000308521.5	+	4	876	c.519C>T	c.(517-519)ttC>ttT	p.F173F	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	173					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGTACAAATTCGATGACAATT	0.507																																						ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(517-519)ttC>ttT		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F							366.0	300.0	322.0					22																	39441500		2203	4300	6503	SO:0001819	synonymous_variant	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39441500C>T	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.519C>T	22.37:g.39441500C>T						APOBEC3G_ENST00000452957.2_Intron	p.F173F	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN			4	876	+	Melanoma(58;0.04)		178					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	c.519C>T	CCDS33648.1																																																																																				0.507	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		85	164	0	0	0	1	0	85	164				
RBBP6	5930	broad.mit.edu	37	16	24582569	24582569	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24582569C>A	ENST00000319715.4	+	18	4614	c.4182C>A	c.(4180-4182)aaC>aaA	p.N1394K	RBBP6_ENST00000348022.2_Missense_Mutation_p.N1360K|RBBP6_ENST00000381039.3_Missense_Mutation_p.N554K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1394					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTCAAAAAACTCTGCATCTA	0.398																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4180-4182)aaC>aaA		retinoblastoma binding protein 6							48.0	48.0	48.0					16																	24582569		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582569C>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4182C>A	16.37:g.24582569C>A	ENSP00000317872:p.Asn1394Lys					RBBP6_ENST00000348022.2_Missense_Mutation_p.N1360K|RBBP6_ENST00000381039.3_Missense_Mutation_p.N554K	p.N1394K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	4614	+			1394					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4182C>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	7.963	0.747482	0.15710	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17370	2.28;2.52;2.52	5.38	-0.559	0.11792	.	0.569444	0.16618	N	0.206639	T	0.07728	0.0194	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15473	0.013;0.004;0.002	B;B;B	0.16289	0.015;0.015;0.007	T	0.41840	-0.9486	10	0.09843	T	0.71	-3.1152	9.3201	0.37959	0.0:0.4081:0.0:0.5919	.	554;1360;1394	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	K	554;1394;1360	ENSP00000370427:N554K;ENSP00000317872:N1394K;ENSP00000316291:N1360K	ENSP00000317872:N1394K	N	+	3	2	RBBP6	24490070	0.002000	0.14202	0.007000	0.13788	0.970000	0.65996	0.399000	0.20916	0.077000	0.16863	0.563000	0.77884	AAC		0.398	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		21	25	1	0	6.44725e-10	1	7.85205e-10	21	25				
ADH6	130	broad.mit.edu	37	4	100129875	100129875	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100129875C>T	ENST00000237653.7	-	6	1162	c.778G>A	c.(778-780)Gat>Aat	p.D260N	ADH6_ENST00000394899.2_Missense_Mutation_p.D260N|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.D51N|ADH6_ENST00000394897.1_Missense_Mutation_p.D260N	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	260					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ATACCAGCATCTGTCATATCA	0.408																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(778-780)Gat>Aat		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						210.0	223.0	219.0					4																	100129875		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100129875C>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.778G>A	4.37:g.100129875C>T	ENSP00000237653:p.Asp260Asn					ADH6_ENST00000394899.2_Missense_Mutation_p.D260N|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.D260N|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.D51N|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000504257.1_5'UTR	p.D260N			P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	6	860	-			260					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.778G>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110845	0.37242	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T;T	0.22743	3.74;1.94;1.94;1.94;3.74	4.71	2.89	0.33648	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.530450	0.22742	N	0.056200	T	0.13756	0.0333	N	0.16656	0.425	0.20403	N	0.999902	B;B;B;B	0.15141	0.011;0.001;0.012;0.002	B;B;B;B	0.17979	0.02;0.012;0.012;0.002	T	0.23368	-1.0190	10	0.56958	D	0.05	-8.835	12.0476	0.53489	0.0:0.8463:0.0:0.1537	.	137;260;260;260	B4DPD8;E9PBI1;P28332;P28332-2	.;.;ADH6_HUMAN;.	N	260;260;51;260;196	ENSP00000378358:D260N;ENSP00000378359:D260N;ENSP00000384997:D51N;ENSP00000237653:D260N;ENSP00000426187:D196N	ENSP00000237653:D260N	D	-	1	0	ADH6	100348898	0.000000	0.05858	0.004000	0.12327	0.306000	0.27790	0.574000	0.23714	1.060000	0.40578	0.557000	0.71058	GAT		0.408	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		81	186	0	0	0	1	0	81	186				
N4BP1	9683	broad.mit.edu	37	16	48594765	48594765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48594765G>A	ENST00000262384.3	-	2	2025	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	597					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AGAGTATCTCGAAACCTTTGA	0.428																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(1789-1791)Cga>Tga		NEDD4 binding protein 1							129.0	122.0	125.0					16																	48594765		1853	4087	5940	SO:0001587	stop_gained	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48594765G>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1789C>T	16.37:g.48594765G>A	ENSP00000262384:p.Arg597*					RP11-44I10.3_ENST00000563994.1_RNA	p.R597*	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			2	2025	-		all_cancers(37;0.179)|all_lung(18;0.11)	597					A7MD49|Q2YDX1	Nonsense_Mutation	SNP	ENST00000262384.3	37	c.1789C>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	G	40	8.126217	0.98667	.	.	ENSG00000102921	ENST00000262384	.	.	.	5.93	3.82	0.43975	.	0.186444	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.7617	9.4098	0.38485	0.1227:0.0:0.7571:0.1202	.	.	.	.	X	597	.	ENSP00000262384:R597X	R	-	1	2	N4BP1	47152266	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.123000	0.41996	2.814000	0.96858	0.591000	0.81541	CGA		0.428	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		41	72	0	0	0	1	0	41	72				
PCLO	27445	broad.mit.edu	37	7	82538315	82538315	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82538315G>A	ENST00000333891.9	-	8	13652	c.13315C>T	c.(13315-13317)Cgt>Tgt	p.R4439C	PCLO_ENST00000423517.2_Missense_Mutation_p.R4439C	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTCCTCACGACGCAGATGA	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13315-13317)Cgt>Tgt		piccolo presynaptic cytomatrix protein							90.0	80.0	83.0					7																	82538315		1937	4146	6083	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82538315G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13315C>T	7.37:g.82538315G>A	ENSP00000334319:p.Arg4439Cys					PCLO_ENST00000333891.8_Missense_Mutation_p.R4439C	p.R4439C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			8	13652	-			4370			PDZ.			Missense_Mutation	SNP	ENST00000333891.9	37	c.13315C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538635	0.45176	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.19105	2.18;2.17	5.39	5.39	0.77823	.	.	.	.	.	T	0.46870	0.1415	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.40515	-0.9559	9	0.87932	D	0	.	19.5274	0.95212	0.0:0.0:1.0:0.0	.	4439;4439	Q9Y6V0-5;Q9Y6V0-6	.;.	C	4439	ENSP00000334319:R4439C;ENSP00000388393:R4439C	ENSP00000334319:R4439C	R	-	1	0	PCLO	82376251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.217000	0.72218	2.699000	0.92147	0.591000	0.81541	CGT		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	23	0	0	0	1	0	13	23				
PRUNE2	158471	broad.mit.edu	37	9	79324748	79324748	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79324748A>C	ENST00000376718.3	-	8	2565	c.2442T>G	c.(2440-2442)aaT>aaG	p.N814K	PRUNE2_ENST00000428286.1_Missense_Mutation_p.N455K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	814					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						AATTCCAGGTATTTTTTAAAG	0.478																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(1363-1365)aaT>aaG		prune homolog 2 (Drosophila)							49.0	45.0	46.0					9																	79324748		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324748A>C	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.2442T>G	9.37:g.79324748A>C	ENSP00000365908:p.Asn814Lys					PRUNE2_ENST00000376718.3_Missense_Mutation_p.N814K	p.N455K			Q8WUY3	PRUN2_HUMAN			8	2565	-			814					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.1365T>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.304|6.304	0.424198|0.424198	0.11928|0.11928	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.20332|.	2.08;2.08|.	5.65|5.65	-3.25|-3.25	0.05079|0.05079	.|.	0.377447|.	0.22800|.	N|.	0.055486|.	T|T	0.35422|0.35422	0.0931|0.0931	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	B|.	0.17465|.	0.022|.	B|.	0.17433|.	0.018|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.45353|.	T|.	0.12|.	-9.1965|-9.1965	6.6972|6.6972	0.23205|0.23205	0.439:0.3544:0.2066:0.0|0.439:0.3544:0.2066:0.0	.|.	814|.	Q8WUY3|.	PRUN2_HUMAN|.	K|D	814;455;813|136	ENSP00000365908:N814K;ENSP00000397425:N455K|.	ENSP00000365908:N814K|.	N|Y	-|-	3|1	2|0	PRUNE2|PRUNE2	78514568|78514568	0.112000|0.112000	0.22096|0.22096	0.990000|0.990000	0.47175|0.47175	0.522000|0.522000	0.34438|0.34438	0.049000|0.049000	0.14099|0.14099	-0.166000|-0.166000	0.10890|0.10890	0.379000|0.379000	0.24179|0.24179	AAT|TAC		0.478	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		10	23	0	0	0	1	0	10	23				
NOS2	4843	broad.mit.edu	37	17	26109077	26109077	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26109077C>A	ENST00000313735.6	-	7	919	c.686G>T	c.(685-687)aGa>aTa	p.R229I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	229					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	ACGCACGTGTCTGCAGATGTG	0.542																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(685-687)aGa>aTa		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						193.0	134.0	154.0					17																	26109077		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26109077C>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.686G>T	17.37:g.26109077C>A	ENSP00000327251:p.Arg229Ile						p.R229I	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			7	919	-			229					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.686G>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468625	0.63625	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.22945	1.93	5.38	3.38	0.38709	Nitric oxide synthase, oxygenase domain (3);	0.262414	0.35124	N	0.003429	T	0.27967	0.0689	M	0.72118	2.19	0.50313	D	0.999866	B;P	0.42337	0.317;0.776	B;B	0.38921	0.144;0.285	T	0.17137	-1.0379	10	0.72032	D	0.01	.	10.8762	0.46913	0.0:0.7866:0.0:0.2134	.	229;229	F8WEM3;P35228	.;NOS2_HUMAN	I	229	ENSP00000327251:R229I	ENSP00000305638:R229I	R	-	2	0	NOS2	23133204	0.976000	0.34144	0.995000	0.50966	0.803000	0.45373	1.145000	0.31577	1.285000	0.44548	-0.347000	0.07816	AGA		0.542	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		5	39	1	0	1.23904e-05	1	1.36503e-05	5	39				
TTN	7273	broad.mit.edu	37	2	179466399	179466399	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179466399C>T	ENST00000591111.1	-	236	50719	c.50495G>A	c.(50494-50496)aGa>aAa	p.R16832K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18473K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15905K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9408K|TTN_ENST00000359218.5_Missense_Mutation_p.R9533K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9600K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16832	Ig-like 101.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTTAACTCTGCAATTTGC	0.333																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(55417-55419)aGa>aAa		titin							145.0	132.0	136.0					2																	179466399		1852	4091	5943	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466399C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50495G>A	2.37:g.179466399C>T	ENSP00000465570:p.Arg16832Lys					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9600K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9533K|TTN_ENST00000342992.6_Missense_Mutation_p.R15905K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9408K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16832K	p.R18473K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		286	55642	-			16832			Ig-like 106.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55418G>A		.	.	.	.	.	.	.	.	.	.	C	15.65	2.895250	0.52121	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70500	0.3231	N	0.21373	0.66	0.51767	D	0.99993	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.73962	-0.3817	9	0.87932	D	0	.	19.9076	0.97013	0.0:1.0:0.0:0.0	.	9408;9533;9600;16832	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	15905;9408;9600;9533;9408	ENSP00000343764:R15905K;ENSP00000434586:R9408K;ENSP00000340554:R9600K;ENSP00000352154:R9533K	ENSP00000340554:R9600K	R	-	2	0	TTN	179174644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.374000	0.79633	2.699000	0.92147	0.563000	0.77884	AGA		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	46	0	0	0	1	0	19	46				
MTBP	27085	broad.mit.edu	37	8	121528236	121528236	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:121528236G>A	ENST00000305949.1	+	18	2096	c.2051G>A	c.(2050-2052)cGt>cAt	p.R684H		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	684	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTCTTATTCGTTATGAAACT	0.408																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2050-2052)cGt>cAt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							125.0	120.0	122.0					8																	121528236		2203	4299	6502	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121528236G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2051G>A	8.37:g.121528236G>A	ENSP00000303398:p.Arg684His						p.R684H	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2096	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		684			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2051G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319509	0.95682	.	.	ENSG00000172167	ENST00000305949	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.82545	0.5060	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.82566	-0.0393	9	0.87932	D	0	-19.7041	20.6593	0.99626	0.0:0.0:1.0:0.0	.	684	Q96DY7	MTBP_HUMAN	H	684	.	ENSP00000303398:R684H	R	+	2	0	MTBP	121597417	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.046000	0.76592	2.885000	0.99019	0.655000	0.94253	CGT		0.408	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		20	44	0	0	0	1	0	20	44				
DENND3	22898	broad.mit.edu	37	8	142186774	142186774	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:142186774G>A	ENST00000262585.2	+	15	2658	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	DENND3_ENST00000519811.1_Missense_Mutation_p.E874K|DENND3_ENST00000424248.1_Missense_Mutation_p.E742K	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	794					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAAGTCTTCGAAGCCAACCT	0.512																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2620-2622)Gaa>Aaa		DENN/MADD domain containing 3							117.0	104.0	109.0					8																	142186774		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142186774G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2380G>A	8.37:g.142186774G>A	ENSP00000262585:p.Glu794Lys					DENND3_ENST00000424248.1_Missense_Mutation_p.E742K|DENND3_ENST00000262585.2_Missense_Mutation_p.E794K	p.E874K			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		15	2690	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		794					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.2620G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.470881|5.470881	0.96274|0.96274	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811|ENST00000518668	T;T;T|.	0.15603|.	2.85;2.41;2.84|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77046|0.77046	0.4073|0.4073	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.996;0.998|.	T|T	0.76586|0.76586	-0.2905|-0.2905	10|5	0.72032|.	D|.	0.01|.	-33.1944|-33.1944	19.1238|19.1238	0.93374|0.93374	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	874;794|.	E9PF32;A2RUS2|.	.;DEND3_HUMAN|.	K|Q	794;742;874|798	ENSP00000262585:E794K;ENSP00000410594:E742K;ENSP00000428714:E874K|.	ENSP00000262585:E794K|.	E|R	+|+	1|2	0|0	DENND3|DENND3	142255956|142255956	1.000000|1.000000	0.71417|0.71417	0.535000|0.535000	0.28026|0.28026	0.897000|0.897000	0.52465|0.52465	9.149000|9.149000	0.94659|0.94659	2.493000|2.493000	0.84123|0.84123	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.512	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		30	54	0	0	0	1	0	30	54				
AADAC	13	broad.mit.edu	37	3	151545599	151545599	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151545599T>C	ENST00000232892.7	+	5	965	c.839T>C	c.(838-840)tTt>tCt	p.F280S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	280					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTCTTCAAATTTGTTAATTGG	0.383																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(838-840)tTt>tCt		arylacetamide deacetylase							57.0	60.0	59.0					3																	151545599		2203	4299	6502	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545599T>C	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.839T>C	3.37:g.151545599T>C	ENSP00000232892:p.Phe280Ser					RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	p.F280S	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	965	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	280					A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.839T>C	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955441	0.73902	.	.	ENSG00000114771	ENST00000232892	T	0.57595	0.39	4.81	4.81	0.61882	.	0.097041	0.64402	D	0.000001	T	0.73923	0.3649	M	0.88640	2.97	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	T	0.78316	-0.2251	10	0.45353	T	0.12	-34.3775	14.3537	0.66722	0.0:0.0:0.0:1.0	.	280	P22760	AAAD_HUMAN	S	280	ENSP00000232892:F280S	ENSP00000232892:F280S	F	+	2	0	AADAC	153028289	1.000000	0.71417	0.577000	0.28562	0.994000	0.84299	3.956000	0.56722	1.783000	0.52377	0.482000	0.46254	TTT		0.383	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		5	60	0	0	0	1	0	5	60				
AGAP1	116987	broad.mit.edu	37	2	236792005	236792005	+	Missense_Mutation	SNP	G	G	A	rs373781245		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:236792005G>A	ENST00000304032.8	+	10	1647	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	AGAP1_ENST00000336665.5_Missense_Mutation_p.R356Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R195Q|AGAP1_ENST00000409538.1_Missense_Mutation_p.R621Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	356	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.R356Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGTTGAAGCGAAGTGGCAAA	0.388																																						ENST00000409538.1																			1	Substitution - Missense(1)	p.R356Q(1)	large_intestine(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1861-1863)cGa>cAa		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	103.0	106.0		1067,1067	5.3	1.0	2		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	356/858,356/805	236792005	2,13004	2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236792005G>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1067G>A	2.37:g.236792005G>A	ENSP00000307634:p.Arg356Gln					AGAP1_ENST00000428334.2_Missense_Mutation_p.R195Q|AGAP1_ENST00000304032.7_Missense_Mutation_p.R356Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R356Q	p.R621Q			Q9UPQ3	AGAP1_HUMAN			10	2358	+			356			Arf-GAP.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1862G>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471084	0.96274	2.27E-4	1.16E-4	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.927;0.98	D	0.85571	0.1234	10	0.40728	T	0.16	.	18.1477	0.89663	0.0:0.0:1.0:0.0	.	356;356	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	Q	356;356;621;195	ENSP00000307634:R356Q;ENSP00000338378:R356Q;ENSP00000386897:R621Q;ENSP00000411824:R195Q	ENSP00000307634:R356Q	R	+	2	0	AGAP1	236456744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.073000	0.93992	2.652000	0.90054	0.655000	0.94253	CGA		0.388	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		17	31	0	0	0	1	0	17	31				
NHSL2	340527	broad.mit.edu	37	X	71358707	71358707	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71358707G>A	ENST00000373677.1	+	2	1473	c.211G>A	c.(211-213)Gag>Aag	p.E71K	NHSL2_ENST00000535692.1_Missense_Mutation_p.E71K|NHSL2_ENST00000540800.1_Missense_Mutation_p.E437K|NHSL2_ENST00000510661.1_Missense_Mutation_p.E206K			Q5HYW2	NHSL2_HUMAN	NHS-like 2	71										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GGTTCCTAAGGAGGCTGCTAC	0.522																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(211-213)Gag>Aag		NHS-like 2							51.0	43.0	46.0					X																	71358707		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71358707G>A			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.211G>A	X.37:g.71358707G>A	ENSP00000362781:p.Glu71Lys					NHSL2_ENST00000510661.1_Missense_Mutation_p.E206K|NHSL2_ENST00000535692.1_Missense_Mutation_p.E71K|NHSL2_ENST00000540800.1_Missense_Mutation_p.E437K	p.E71K			F5H593	F5H593_HUMAN			2	1473	+	Renal(35;0.156)		437					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.211G>A		.	.	.	.	.	.	.	.	.	.	G	14.42	2.531561	0.45073	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.44482	1.53;0.94;0.92;0.94	5.73	4.68	0.58851	.	0.287805	0.32401	N	0.006152	T	0.32255	0.0823	L	0.44542	1.39	0.29657	N	0.84354	B;B;B	0.20550	0.046;0.046;0.046	B;B;B	0.17722	0.019;0.019;0.019	T	0.15263	-1.0443	10	0.14656	T	0.56	-13.9496	11.588	0.50929	0.1049:0.0:0.8951:0.0	.	437;206;71	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	K	437;71;206;71	ENSP00000444617:E437K;ENSP00000362781:E71K;ENSP00000424079:E206K;ENSP00000444914:E71K	ENSP00000362781:E71K	E	+	1	0	NHSL2	71275432	0.004000	0.15560	0.997000	0.53966	0.941000	0.58515	0.377000	0.20552	2.406000	0.81754	0.544000	0.68410	GAG		0.522	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		14	28	0	0	0	1	0	14	28				
ANAPC1	64682	broad.mit.edu	37	2	112621315	112621315	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112621315C>T	ENST00000341068.3	-	9	1761	c.989G>A	c.(988-990)cGc>cAc	p.R330H		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGAGGTTGAGCGACTCTGGCT	0.473																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(988-990)cGc>cAc		anaphase promoting complex subunit 1							66.0	68.0	67.0					2																	112621315		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112621315C>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.989G>A	2.37:g.112621315C>T	ENSP00000339109:p.Arg330His						p.R330H	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			9	1761	-			330					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.989G>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607639	0.66558	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.68	5.68	0.88126	.	0.169942	0.24879	N	0.034861	T	0.75273	0.3827	L	0.46157	1.445	0.58432	D	0.999997	D	0.76494	0.999	D	0.76071	0.987	T	0.72934	-0.4141	9	0.42905	T	0.14	-24.2012	19.7838	0.96428	0.0:1.0:0.0:0.0	.	330	Q9H1A4	APC1_HUMAN	H	330	.	ENSP00000339109:R330H	R	-	2	0	ANAPC1	112337786	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	6.164000	0.71885	2.664000	0.90586	0.650000	0.86243	CGC		0.473	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		26	45	0	0	0	1	0	26	45				
ADAP2	55803	broad.mit.edu	37	17	29253886	29253886	+	Silent	SNP	C	C	T	rs529826184		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29253886C>T	ENST00000330889.3	+	3	602	c.267C>T	c.(265-267)ttC>ttT	p.F89F	ADAP2_ENST00000580525.1_Silent_p.F95F	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	89	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)|p.F89F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGGCCAAGTTCGAAGCCAGAG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		22291	0.0		0.0	False		,,,				2504	0.001					ENST00000330889.3																			2	Unknown(1)|Substitution - coding silent(1)	p.?(1)|p.F89F(1)	breast(1)|central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(265-267)ttC>ttT		ArfGAP with dual PH domains 2							126.0	103.0	111.0					17																	29253886		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29253886C>T	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.267C>T	17.37:g.29253886C>T						ADAP2_ENST00000580525.1_Silent_p.F95F	p.F89F	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			3	602	+			89			Arf-GAP.		Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.267C>T	CCDS11261.1																																																																																				0.488	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		19	43	0	0	0	1	0	19	43				
ALDH16A1	126133	broad.mit.edu	37	19	49963000	49963000	+	Nonsense_Mutation	SNP	C	C	T	rs534259783		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:49963000C>T	ENST00000293350.4	+	4	557	c.394C>T	c.(394-396)Cga>Tga	p.R132*	ALDH16A1_ENST00000433981.2_5'UTR|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000455361.2_Nonsense_Mutation_p.R132*	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	132						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GCGGGCTGTTCGAGAGGTTCG	0.642																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(394-396)Cga>Tga		aldehyde dehydrogenase 16 family, member A1							56.0	57.0	56.0					19																	49963000		2203	4300	6503	SO:0001587	stop_gained	126133						oxidoreductase activity|protein binding	g.chr19:49963000C>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.394C>T	19.37:g.49963000C>T	ENSP00000293350:p.Arg132*					ALDH16A1_ENST00000455361.2_Nonsense_Mutation_p.R132*|ALDH16A1_ENST00000433981.2_5'UTR|ALDH16A1_ENST00000540132.1_Intron	p.R132*	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	4	557	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	132					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Nonsense_Mutation	SNP	ENST00000293350.4	37	c.394C>T	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742084	0.69418	.	.	ENSG00000161618	ENST00000293350;ENST00000455361	.	.	.	5.38	3.2	0.36748	.	0.515162	0.18506	N	0.139209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.558	7.069	0.25167	0.17:0.7416:0.0:0.0884	.	.	.	.	X	132	.	ENSP00000293350:R132X	R	+	1	2	ALDH16A1	54654812	0.022000	0.18835	0.838000	0.33150	0.056000	0.15407	0.305000	0.19254	0.738000	0.32606	0.585000	0.79938	CGA		0.642	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		25	47	0	0	0	1	0	25	47				
SH3KBP1	30011	broad.mit.edu	37	X	19725022	19725022	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19725022C>T	ENST00000397821.3	-	4	657	c.367G>A	c.(367-369)Gac>Aac	p.D123N	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D123N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D86N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	123	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCTATGATGTCGCCAACTTTC	0.572																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(367-369)Gac>Aac		SH3-domain kinase binding protein 1							88.0	72.0	77.0					X																	19725022		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19725022C>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.367G>A	X.37:g.19725022C>T	ENSP00000380921:p.Asp123Asn					SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D123N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D86N	p.D123N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			4	657	-			123			SH3 2.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.367G>A	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	c	25.7	4.669717	0.88348	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.92	5.04	0.67666	Src homology-3 domain (3);Variant SH3 (1);	0.430070	0.28312	N	0.015805	T	0.81955	0.4932	M	0.93016	3.37	0.80722	D	1	D;D	0.54772	0.968;0.967	P;P	0.61397	0.888;0.531	D	0.86112	0.1563	10	0.87932	D	0	-15.7338	14.2413	0.65959	0.1503:0.8497:0.0:0.0	.	123;86	Q96B97;Q5JPT5	SH3K1_HUMAN;.	N	64;123;31;86;59;123;70;31	ENSP00000380921:D123N;ENSP00000369020:D86N;ENSP00000369049:D59N;ENSP00000369019:D123N;ENSP00000388766:D70N;ENSP00000409292:D31N	ENSP00000369019:D123N	D	-	1	0	SH3KBP1	19634943	0.999000	0.42202	0.920000	0.36463	0.985000	0.73830	4.554000	0.60760	1.212000	0.43366	0.597000	0.82753	GAC		0.572	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		17	40	0	0	0	1	0	17	40				
PLEK	5341	broad.mit.edu	37	2	68613778	68613778	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68613778A>G	ENST00000234313.7	+	5	796	c.617A>G	c.(616-618)gAa>gGa	p.E206G		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	206	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGAACTGCTGAAAACCCTTTC	0.507																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(616-618)gAa>gGa		pleckstrin							158.0	161.0	160.0					2																	68613778		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68613778A>G	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.617A>G	2.37:g.68613778A>G	ENSP00000234313:p.Glu206Gly						p.E206G	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	5	796	+		Ovarian(717;0.0129)	206			DEP.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.617A>G	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225114	0.39300	.	.	ENSG00000115956	ENST00000234313	T	0.21361	2.01	5.38	3.0	0.34707	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.195690	0.53938	D	0.000059	T	0.13286	0.0322	L	0.31120	0.905	0.51482	D	0.999923	B;B	0.12013	0.005;0.001	B;B	0.12837	0.008;0.008	T	0.09862	-1.0655	10	0.23891	T	0.37	.	7.8256	0.29313	0.7885:0.1397:0.0717:0.0	.	224;206	Q59GZ2;P08567	.;PLEK_HUMAN	G	206	ENSP00000234313:E206G	ENSP00000234313:E206G	E	+	2	0	PLEK	68467282	1.000000	0.71417	0.453000	0.27007	0.978000	0.69477	7.405000	0.80007	0.863000	0.35553	0.533000	0.62120	GAA		0.507	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		34	64	0	0	0	1	0	34	64				
MGAT4A	11320	broad.mit.edu	37	2	99294911	99294911	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99294911C>A	ENST00000264968.3	-	2	481	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	MGAT4A_ENST00000393487.1_Nonsense_Mutation_p.E40*|MGAT4A_ENST00000409391.1_Nonsense_Mutation_p.E40*			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	40					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GCAAGGAATTCTCGTTGATAA	0.338																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(118-120)Gaa>Taa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							84.0	80.0	82.0					2																	99294911		2203	4300	6503	SO:0001587	stop_gained	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99294911C>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.118G>T	2.37:g.99294911C>A	ENSP00000264968:p.Glu40*					MGAT4A_ENST00000264968.2_Nonsense_Mutation_p.E40*|MGAT4A_ENST00000409391.1_Nonsense_Mutation_p.E40*	p.E40*	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			3	431	-			40					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Nonsense_Mutation	SNP	ENST00000264968.3	37	c.118G>T	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	37	6.132820	0.97310	.	.	ENSG00000071073	ENST00000393487;ENST00000264968;ENST00000409391	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	18.359	0.90368	0.0:1.0:0.0:0.0	.	.	.	.	X	40	.	ENSP00000264968:E40X	E	-	1	0	MGAT4A	98661343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.299000	0.78831	2.576000	0.86940	0.555000	0.69702	GAA		0.338	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		15	24	1	0	1.05317e-09	1	1.27574e-09	15	24				
ANKAR	150709	broad.mit.edu	37	2	190554573	190554573	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:190554573G>T	ENST00000520309.1	+	3	1010	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	ANKAR_ENST00000281412.6_Missense_Mutation_p.D72Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.D237Y|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.D308Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.D308Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	308						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAAGAAAAAAGATATCAGAAG	0.284																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(922-924)Gat>Tat		ankyrin and armadillo repeat containing							42.0	52.0	48.0					2																	190554573		2146	4245	6391	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190554573G>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.922G>T	2.37:g.190554573G>T	ENSP00000427882:p.Asp308Tyr					ANKAR_ENST00000438402.2_Missense_Mutation_p.D308Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.D308Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.D72Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.D237Y|ANKAR_ENST00000461516.1_3'UTR	p.D308Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		3	1010	+			308					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.922G>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884060	0.51908	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.44083	0.98;0.98;0.93;0.98;1.04	5.97	5.97	0.96955	.	0.346611	0.24942	N	0.034380	T	0.32526	0.0832	N	0.14661	0.345	0.43667	D	0.996096	P	0.44195	0.828	B	0.40101	0.319	T	0.25047	-1.0143	10	0.87932	D	0	-3.222	19.2102	0.93751	0.0:0.0:1.0:0.0	.	308	Q7Z5J8	ANKAR_HUMAN	Y	308;308;308;237;72	ENSP00000427882:D308Y;ENSP00000313513:D308Y;ENSP00000397243:D308Y;ENSP00000393043:D237Y;ENSP00000281412:D72Y	ENSP00000281412:D72Y	D	+	1	0	ANKAR	190262818	1.000000	0.71417	0.938000	0.37757	0.796000	0.44982	6.736000	0.74811	2.836000	0.97738	0.655000	0.94253	GAT		0.284	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		23	42	1	0	3.5997e-14	1	4.67138e-14	23	42				
OR4A16	81327	broad.mit.edu	37	11	55111641	55111641	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55111641C>A	ENST00000314721.2	+	1	1015	c.965C>A	c.(964-966)tCt>tAt	p.S322Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATTCCTAGTTCTAAGGCAACA	0.338																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(964-966)tCt>tAt		olfactory receptor, family 4, subfamily A, member 16							22.0	23.0	23.0					11																	55111641		2193	4271	6464	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111641C>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.965C>A	11.37:g.55111641C>A	ENSP00000325128:p.Ser322Tyr						p.S322Y	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	1015	+			322					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.965C>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	12.69	2.013317	0.35511	.	.	ENSG00000181961	ENST00000314721	T	0.00006	9.74	3.64	0.516	0.17019	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.26002	0.139	B	0.19666	0.026	T	0.01500	-1.1339	9	0.66056	D	0.02	.	3.6772	0.08297	0.1626:0.5668:0.1702:0.1004	.	322	Q8NH70	O4A16_HUMAN	Y	322	ENSP00000325128:S322Y	ENSP00000325128:S322Y	S	+	2	0	OR4A16	54868217	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-1.859000	0.01657	0.138000	0.18790	0.536000	0.68110	TCT		0.338	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		6	13	1	0	3.59834e-05	1	3.93264e-05	6	13				
RBMXL1	494115	broad.mit.edu	37	1	89449102	89449102	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89449102C>A	ENST00000321792.5	-	2	835	c.408G>T	c.(406-408)atG>atT	p.M136I	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.M136I	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	136					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGTTAAAATTCATGGAATATC	0.517																																						ENST00000399794.2																			0											c.(406-408)atG>atT		RNA binding motif protein, X-linked-like 1							131.0	140.0	137.0					1																	89449102		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89449102C>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.408G>T	1.37:g.89449102C>A	ENSP00000318415:p.Met136Ile					RBMXL1_ENST00000321792.5_Missense_Mutation_p.M136I|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron	p.M136I	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1123	-			136						Missense_Mutation	SNP	ENST00000321792.5	37	c.408G>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892770	0.33442	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.74526	-0.85;-0.85	1.76	0.777	0.18538	.	0.309910	0.29760	U	0.011274	T	0.31702	0.0805	L	0.29908	0.895	0.20821	N	0.999847	B	0.06786	0.001	B	0.04013	0.001	T	0.22906	-1.0203	10	0.19590	T	0.45	0.4712	4.1564	0.10263	0.0:0.7647:0.0:0.2353	.	136	Q96E39	RBMXL_HUMAN	I	136	ENSP00000318415:M136I;ENSP00000446099:M136I	ENSP00000318415:M136I	M	-	3	0	RBMXL1	89221690	0.000000	0.05858	0.960000	0.40013	0.810000	0.45777	-0.695000	0.05109	0.080000	0.16959	0.306000	0.20318	ATG		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		45	85	1	0	1.41504e-22	1	1.969e-22	45	85				
KCNH7	90134	broad.mit.edu	37	2	163374665	163374665	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:163374665T>G	ENST00000332142.5	-	4	566	c.467A>C	c.(466-468)aAa>aCa	p.K156T	KCNH7_ENST00000328032.4_Missense_Mutation_p.K156T|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	156					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCCAAAAAATTTCCCTATAAA	0.368																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(466-468)aAa>aCa		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						36.0	39.0	38.0					2																	163374665		2203	4296	6499	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374665T>G	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.467A>C	2.37:g.163374665T>G	ENSP00000331727:p.Lys156Thr					KCNH7_ENST00000328032.4_Missense_Mutation_p.K156T|KCNH7_ENST00000477019.1_5'UTR	p.K156T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			4	566	-			156					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.467A>C	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.361137	0.41801	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99671	-5.25;-6.35	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	L	0.29908	0.895	0.42291	D	0.992138	B;B	0.34015	0.435;0.027	B;B	0.29785	0.107;0.016	D	0.98285	1.0510	10	0.62326	D	0.03	.	11.7568	0.51880	0.0:0.0705:0.0:0.9295	.	156;156	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	T	156	ENSP00000331727:K156T;ENSP00000333781:K156T	ENSP00000333781:K156T	K	-	2	0	KCNH7	163082911	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	2.657000	0.46724	2.161000	0.67846	0.533000	0.62120	AAA		0.368	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		15	26	0	0	0	1	0	15	26				
CCNA1	8900	broad.mit.edu	37	13	37011779	37011779	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:37011779T>G	ENST00000255465.4	+	3	575	c.311T>G	c.(310-312)aTc>aGc	p.I104S	CCNA1_ENST00000440264.1_Missense_Mutation_p.I60S|CCNA1_ENST00000418263.1_Missense_Mutation_p.I103S|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000449823.1_Missense_Mutation_p.I60S			P78396	CCNA1_HUMAN	cyclin A1	104					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ATCACAAGAATCAGGTGTTAT	0.483																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(307-309)aTc>aGc		cyclin A1							110.0	121.0	117.0					13																	37011779		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37011779T>G	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.311T>G	13.37:g.37011779T>G	ENSP00000255465:p.Ile104Ser					CCNA1_ENST00000440264.1_Missense_Mutation_p.I60S|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000255465.4_Missense_Mutation_p.I104S|CCNA1_ENST00000449823.1_Missense_Mutation_p.I60S	p.I103S	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	658	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	104					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.308T>G	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.601490	0.28534	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.18174	2.31;2.31;2.23;2.23	5.47	4.26	0.50523	.	1.163670	0.05966	N	0.641548	T	0.17704	0.0425	L	0.51422	1.61	0.29514	N	0.854013	B;B	0.25904	0.137;0.051	B;B	0.25140	0.058;0.016	T	0.39231	-0.9624	10	0.11794	T	0.64	.	9.0637	0.36449	0.0:0.1513:0.0:0.8487	.	103;104	P78396-2;P78396	.;CCNA1_HUMAN	S	60;60;103;104	ENSP00000400666:I60S;ENSP00000409873:I60S;ENSP00000396479:I103S;ENSP00000255465:I104S	ENSP00000255465:I104S	I	+	2	0	CCNA1	35909779	0.670000	0.27512	0.599000	0.28851	0.822000	0.46500	2.171000	0.42453	0.873000	0.35799	0.374000	0.22700	ATC		0.483	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		34	71	0	0	0	1	0	34	71				
THSD7A	221981	broad.mit.edu	37	7	11485733	11485733	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:11485733C>T	ENST00000423059.4	-	13	3270	c.3019G>A	c.(3019-3021)Gat>Aat	p.D1007N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1007	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCATTTTGATCGTAGCATGCC	0.423										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3019-3021)Gat>Aat		thrombospondin, type I, domain containing 7A							316.0	293.0	301.0					7																	11485733		1953	4160	6113	SO:0001583	missense	221981					integral to membrane		g.chr7:11485733C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3019G>A	7.37:g.11485733C>T	ENSP00000406482:p.Asp1007Asn	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.D1007N	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3270	-			1007			TSP type-1 10.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3019G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710707	0.68730	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59772	0.24	5.63	5.63	0.86233	.	0.084948	0.85682	D	0.000000	T	0.50274	0.1606	L	0.33485	1.01	0.58432	D	0.999995	B	0.32693	0.38	B	0.32762	0.152	T	0.42916	-0.9423	10	0.30078	T	0.28	.	19.6788	0.95950	0.0:1.0:0.0:0.0	.	1007	Q9UPZ6	THS7A_HUMAN	N	1007	ENSP00000406482:D1007N	ENSP00000262042:D1007N	D	-	1	0	THSD7A	11452258	1.000000	0.71417	0.765000	0.31456	0.846000	0.48090	4.937000	0.63513	2.653000	0.90120	0.650000	0.86243	GAT		0.423	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		59	111	0	0	0	1	0	59	111				
NADSYN1	55191	broad.mit.edu	37	11	71174492	71174492	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:71174492G>A	ENST00000319023.2	+	4	466	c.278G>A	c.(277-279)cGa>cAa	p.R93Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	93	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GTAATGCACCGAAACGTCCGC	0.602																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(277-279)cGa>cAa		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						117.0	87.0	97.0					11																	71174492		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71174492G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.278G>A	11.37:g.71174492G>A	ENSP00000326424:p.Arg93Gln						p.R93Q	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			4	466	+			93			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.278G>A	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662783	0.47572	.	.	ENSG00000172890	ENST00000319023	D	0.85556	-2.0	5.06	5.06	0.68205	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.163209	0.41194	D	0.000934	T	0.78978	0.4369	L	0.55017	1.72	0.80722	D	1	P	0.43169	0.8	B	0.35607	0.206	T	0.79694	-0.1696	10	0.46703	T	0.11	-17.5377	9.8748	0.41197	0.0944:0.0:0.9056:0.0	.	93	Q6IA69	NADE_HUMAN	Q	93	ENSP00000326424:R93Q	ENSP00000326424:R93Q	R	+	2	0	NADSYN1	70852140	0.992000	0.36948	0.926000	0.36857	0.549000	0.35272	3.880000	0.56145	2.515000	0.84797	0.655000	0.94253	CGA		0.602	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		7	36	0	0	0	1	0	7	36				
LRRC37A6P	387646	broad.mit.edu	37	10	27538790	27538790	+	lincRNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27538790A>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCAGGTTTGAATGTTCCGGAG	0.502																																						ENST00000574842.1																			0																				80.0	66.0	70.0					10																	27538790		692	1591	2283			0							g.chr10:27538790A>G																													10.37:g.27538790A>G						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.502	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			66	88	0	0	0	1	0	66	88				
PPIC	5480	broad.mit.edu	37	5	122364544	122364544	+	Missense_Mutation	SNP	C	C	T	rs201311163	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122364544C>T	ENST00000306442.4	-	3	366	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	84	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AAACTTGCTTCCTTTATATCC	0.393													C|||	2	0.000399361	0.0	0.0	5008	,	,		20407	0.002		0.0	False		,,,				2504	0.0				Ovarian(99;690 1502 20765 45543 49568)	ENST00000306442.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(250-252)gGa>gAa		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						137.0	108.0	118.0					5																	122364544		2203	4300	6503	SO:0001583	missense	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122364544C>T	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.251G>A	5.37:g.122364544C>T	ENSP00000303057:p.Gly84Glu						p.G84E	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	3	366	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	84			PPIase cyclophilin-type.		A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	c.251G>A	CCDS4133.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	26.6	4.755839	0.89843	.	.	ENSG00000168938	ENST00000306442	T	0.46451	0.87	5.22	5.22	0.72569	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78823	-0.2052	10	0.87932	D	0	.	19.1373	0.93433	0.0:1.0:0.0:0.0	.	84	P45877	PPIC_HUMAN	E	84	ENSP00000303057:G84E	ENSP00000303057:G84E	G	-	2	0	PPIC	122392443	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.732000	0.68563	2.590000	0.87494	0.563000	0.77884	GGA		0.393	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		12	26	0	0	0	1	0	12	26				
GRM8	2918	broad.mit.edu	37	7	126544109	126544109	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:126544109C>A	ENST00000339582.2	-	5	1743	c.935G>T	c.(934-936)gGa>gTa	p.G312V	GRM8_ENST00000358373.3_Missense_Mutation_p.G312V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.G312V|GRM8_ENST00000405249.1_Missense_Mutation_p.G312V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	312					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TATTTTGGATCCCCAACTATC	0.403										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(934-936)gGa>gTa		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						95.0	94.0	95.0					7																	126544109		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544109C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.935G>T	7.37:g.126544109C>A	ENSP00000344173:p.Gly312Val	HNSCC(24;0.065)				GRM8_ENST00000358373.3_Missense_Mutation_p.G312V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.G312V|GRM8_ENST00000405249.1_Missense_Mutation_p.G312V	p.G312V			O00222	GRM8_HUMAN			5	1743	-		Prostate(267;0.186)	312					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.935G>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449320	0.84101	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.03	5.03	0.67393	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91626	0.7354	M	0.84156	2.68	0.80722	D	1	D;P;D	0.89917	1.0;0.884;0.999	D;B;D	0.79784	0.993;0.422;0.976	D	0.92941	0.6372	10	0.87932	D	0	.	17.3782	0.87398	0.0:1.0:0.0:0.0	.	312;312;312	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	V	312	ENSP00000344173:G312V;ENSP00000409790:G312V;ENSP00000351142:G312V;ENSP00000385731:G312V	ENSP00000344173:G312V	G	-	2	0	GRM8	126331345	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.720000	0.84759	2.350000	0.79820	0.508000	0.49915	GGA		0.403	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			19	44	1	0	8.34094e-07	1	9.42356e-07	19	44				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52390591	52390591	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52390591C>T	ENST00000443374.2	+	0	1780				RP11-50E11.3_ENST00000609579.1_RNA																							AAAGCACTTTCTGTTACCTCT	0.408																																						ENST00000443374.1																			0																																																			0							g.chr10:52390591C>T																													10.37:g.52390591C>T														0	1284	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.408	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			11	33	0	0	0	1	0	11	33				
C2orf78	388960	broad.mit.edu	37	2	74043300	74043300	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74043300C>A	ENST00000409561.1	+	3	2071	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	650										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAACTGGATTCTCTTCCTCCA	0.512																																						ENST00000409561.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(1948-1950)ttC>ttA		chromosome 2 open reading frame 78							50.0	51.0	51.0					2																	74043300		1875	4103	5978	SO:0001583	missense	388960							g.chr2:74043300C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1950C>A	2.37:g.74043300C>A	ENSP00000387124:p.Phe650Leu						p.F650L	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			3	2071	+			650						Missense_Mutation	SNP	ENST00000409561.1	37	c.1950C>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.956740	0.00465	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.38077	1.16	4.73	1.89	0.25635	.	1.478270	0.04432	N	0.369457	T	0.16257	0.0391	N	0.04203	-0.255	0.21604	N	0.999627	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	10	0.11794	T	0.64	-0.3841	3.901	0.09161	0.1673:0.5793:0.1618:0.0915	.	650	A6NCI8	CB078_HUMAN	L	650;620	ENSP00000387124:F650L	ENSP00000340692:F620L	F	+	3	2	C2orf78	73896808	0.000000	0.05858	0.147000	0.22382	0.011000	0.07611	-0.154000	0.10130	0.268000	0.21939	-0.261000	0.10672	TTC		0.512	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		19	61	1	0	1.15919e-05	1	1.28007e-05	19	61				
ZBTB32	27033	broad.mit.edu	37	19	36205547	36205547	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36205547A>C	ENST00000392197.2	+	3	337	c.19A>C	c.(19-21)Aga>Cga	p.R7R	ZBTB32_ENST00000262630.3_Silent_p.R7R			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	7					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCCCCATAAGACTGCCCAG	0.582																																						ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(19-21)Aga>Cga		zinc finger and BTB domain containing 32							107.0	115.0	112.0					19																	36205547		2199	4297	6496	SO:0001819	synonymous_variant	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205547A>C	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.19A>C	19.37:g.36205547A>C						ZBTB32_ENST00000262630.3_Silent_p.R7R	p.R7R			Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	337	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		7					Q8WVP2	Silent	SNP	ENST00000392197.2	37	c.19A>C	CCDS12471.1																																																																																				0.582	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		66	148	0	0	0	1	0	66	148				
DOCK1	1793	broad.mit.edu	37	10	128821490	128821490	+	Missense_Mutation	SNP	A	A	C	rs529958746		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128821490A>C	ENST00000280333.6	+	14	1400	c.1291A>C	c.(1291-1293)Aca>Cca	p.T431P	RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000432554.2_RNA|RP11-223P11.3_ENST00000608350.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	431	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TATCTATGTAACATTAGTTCA	0.378																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(1291-1293)Aca>Cca		dedicator of cytokinesis 1							192.0	190.0	190.0					10																	128821490		1921	4145	6066	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128821490A>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1291A>C	10.37:g.128821490A>C	ENSP00000280333:p.Thr431Pro					RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA	p.T431P	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	14	1400	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	431			DHR-1.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.1291A>C		.	.	.	.	.	.	.	.	.	.	A	23.9	4.470954	0.84533	.	.	ENSG00000150760	ENST00000280333	T	0.15952	2.38	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66508	-0.5906	10	0.87932	D	0	.	14.8236	0.70091	1.0:0.0:0.0:0.0	.	431;431	B2RUU3;Q14185	.;DOCK1_HUMAN	P	431	ENSP00000280333:T431P	ENSP00000280333:T431P	T	+	1	0	DOCK1	128711480	1.000000	0.71417	0.515000	0.27774	0.972000	0.66771	9.062000	0.93920	2.081000	0.62600	0.533000	0.62120	ACA		0.378	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		57	82	0	0	0	1	0	57	82				
SLC46A2	57864	broad.mit.edu	37	9	115652731	115652731	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115652731G>T	ENST00000374228.4	-	1	462	c.231C>A	c.(229-231)ttC>ttA	p.F77L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	77					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						AGATAATGTAGAAATTGGAGA	0.607																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(229-231)ttC>ttA		solute carrier family 46, member 2							111.0	113.0	113.0					9																	115652731		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652731G>T	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.231C>A	9.37:g.115652731G>T	ENSP00000363345:p.Phe77Leu						p.F77L	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN			1	462	-			77					B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.231C>A	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005337	0.74932	.	.	ENSG00000119457	ENST00000374228	T	0.50548	0.74	5.11	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.63843	1.955	0.53005	D	0.999962	D	0.89917	1.0	D	0.87578	0.998	T	0.54523	-0.8281	10	0.29301	T	0.29	-34.238	8.442	0.32820	0.301:0.0:0.699:0.0	.	77	Q9BY10	TSCOT_HUMAN	L	77	ENSP00000363345:F77L	ENSP00000363345:F77L	F	-	3	2	SLC46A2	114692552	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.750000	0.62162	0.554000	0.29061	0.650000	0.86243	TTC		0.607	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		10	120	1	0	1.76689e-08	1	2.08373e-08	10	120				
KIAA0754	643314	broad.mit.edu	37	1	39878370	39878370	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39878370G>T	ENST00000530275.1	+	1	2220	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	675										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTTCCAGAGAAACAAGTTA	0.453																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2023-2025)gaG>gaT		KIAA0754							42.0	43.0	43.0					1																	39878370		1873	4106	5979	SO:0001583	missense	643314							g.chr1:39878370G>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2025G>T	1.37:g.39878370G>T	ENSP00000431179:p.Glu675Asp					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron	p.E675D	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2220	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	675					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2025G>T		.	.	.	.	.	.	.	.	.	.	G	13.69	2.313399	0.40996	.	.	ENSG00000255103	ENST00000530275	T	0.27256	1.68	4.51	2.54	0.30619	.	.	.	.	.	T	0.16514	0.0397	N	0.24115	0.695	0.09310	N	1	B	0.23540	0.087	B	0.22601	0.04	T	0.19095	-1.0316	9	0.66056	D	0.02	.	6.5434	0.22392	0.1023:0.1824:0.7153:0.0	.	675	O94854	K0754_HUMAN	D	675	ENSP00000431179:E675D	ENSP00000431179:E675D	E	+	3	2	RP4-562N20.1	39650957	0.995000	0.38212	0.978000	0.43139	0.045000	0.14185	1.039000	0.30266	1.107000	0.41642	0.561000	0.74099	GAG		0.453	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	38	1	0	0.0215528	1	0.0219788	6	38				
DAAM1	23002	broad.mit.edu	37	14	59792754	59792754	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:59792754C>T	ENST00000395125.1	+	9	1156	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L	DAAM1_ENST00000351081.1_Missense_Mutation_p.P378L|DAAM1_ENST00000360909.3_Missense_Mutation_p.P378L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	378	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAGCTTACCCGCATTTCATG	0.443																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1132-1134)cCg>cTg		dishevelled associated activator of morphogenesis 1							163.0	124.0	137.0					14																	59792754		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59792754C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1133C>T	14.37:g.59792754C>T	ENSP00000378557:p.Pro378Leu					DAAM1_ENST00000360909.3_Missense_Mutation_p.P378L|DAAM1_ENST00000351081.1_Missense_Mutation_p.P378L	p.P378L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	9	1156	+			378			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.1133C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026492	0.75390	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.30448	1.53;1.53;1.53	5.53	5.53	0.82687	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.046066	0.85682	D	0.000000	T	0.64594	0.2612	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68678	-0.5345	10	0.59425	D	0.04	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	378;378	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	378	ENSP00000354162:P378L;ENSP00000247170:P378L;ENSP00000378557:P378L	ENSP00000247170:P378L	P	+	2	0	DAAM1	58862507	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.609000	0.82925	2.882000	0.98803	0.655000	0.94253	CCG		0.443	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		7	50	0	0	0	1	0	7	50				
CHGB	1114	broad.mit.edu	37	20	5904272	5904272	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5904272A>C	ENST00000378961.4	+	4	1686	c.1482A>C	c.(1480-1482)gaA>gaC	p.E494D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	494						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACACTAAAGAAAACAGGGAGG	0.488																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1480-1482)gaA>gaC		chromogranin B (secretogranin 1)							68.0	72.0	71.0					20																	5904272		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5904272A>C		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1482A>C	20.37:g.5904272A>C	ENSP00000368244:p.Glu494Asp						p.E494D	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	1686	+			494					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1482A>C	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	A	7.249	0.602819	0.13939	.	.	ENSG00000089199	ENST00000378961	T	0.01963	4.53	5.54	-1.74	0.08056	.	0.709291	0.13604	N	0.375628	T	0.03520	0.0101	M	0.75264	2.295	0.09310	N	1	B	0.24258	0.1	B	0.28916	0.096	T	0.33497	-0.9866	10	0.66056	D	0.02	-6.1819	5.0771	0.14638	0.1718:0.0928:0.5333:0.2022	.	494	P05060	SCG1_HUMAN	D	494	ENSP00000368244:E494D	ENSP00000368244:E494D	E	+	3	2	CHGB	5852272	0.082000	0.21442	0.001000	0.08648	0.029000	0.11900	0.052000	0.14163	-0.115000	0.11915	-0.290000	0.09829	GAA		0.488	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		34	50	0	0	0	1	0	34	50				
SCN11A	11280	broad.mit.edu	37	3	38968336	38968336	+	Missense_Mutation	SNP	C	C	T	rs554286806		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38968336C>T	ENST00000302328.3	-	4	773	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.R192Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R192Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.R192Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	192					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATGGATCTCGAAGGAAAGA	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20406	0.0		0.0	False		,,,				2504	0.0					ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(574-576)cGa>cAa		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						110.0	118.0	115.0					3																	38968336		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38968336C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.575G>A	3.37:g.38968336C>T	ENSP00000307599:p.Arg192Gln					SCN11A_ENST00000444237.2_Missense_Mutation_p.R192Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R192Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R192Q	p.R192Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	4	773	-			192					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.575G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507051	0.96386	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2	5.64	5.64	0.86602	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	M	0.85373	2.75	0.47009	D	0.999283	D	0.89917	1.0	D	0.91635	0.999	D	0.99525	1.0959	10	0.54805	T	0.06	.	17.1906	0.86878	0.0:1.0:0.0:0.0	.	192	Q9UI33	SCNBA_HUMAN	Q	192	ENSP00000307599:R192Q;ENSP00000400945:R192Q;ENSP00000416757:R192Q;ENSP00000408028:R192Q	ENSP00000307599:R192Q	R	-	2	0	SCN11A	38943340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.658000	0.90341	0.563000	0.77884	CGA		0.378	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		56	78	0	0	0	1	0	56	78				
NUFIP2	57532	broad.mit.edu	37	17	27620866	27620866	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27620866T>G	ENST00000225388.4	-	1	270	c.212A>C	c.(211-213)aAg>aCg	p.K71T	NUFIP2_ENST00000579665.1_Missense_Mutation_p.K71T	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	71						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TTTCAGCGGCTTTGGCTGGGC	0.597																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(211-213)aAg>aCg		nuclear fragile X mental retardation protein interacting protein 2							207.0	205.0	206.0					17																	27620866		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620866T>G	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.212A>C	17.37:g.27620866T>G	ENSP00000225388:p.Lys71Thr					NUFIP2_ENST00000579665.1_Missense_Mutation_p.K71T	p.K71T	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	270	-			71					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.212A>C	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589279	0.46214	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000002	T	0.40145	0.1105	N	0.24115	0.695	0.34876	D	0.744095	B;B	0.32245	0.22;0.361	B;B	0.33799	0.047;0.17	T	0.53173	-0.8476	9	0.30854	T	0.27	-7.0179	13.5953	0.61987	0.0:0.0:0.0:1.0	.	71;71	Q7Z417;A1L3A6	NUFP2_HUMAN;.	T	71	.	ENSP00000225388:K71T	K	-	2	0	NUFIP2	24644992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.872000	0.48467	2.100000	0.63781	0.383000	0.25322	AAG		0.597	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		9	201	0	0	0	1	0	9	201				
HGSNAT	138050	broad.mit.edu	37	8	43047473	43047473	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:43047473G>T	ENST00000458501.2	+	13	1361	c.1361G>T	c.(1360-1362)gGa>gTa	p.G454V	HGSNAT_ENST00000521576.1_Missense_Mutation_p.G143V|HGSNAT_ENST00000379644.4_Missense_Mutation_p.G426V|HGSNAT_ENST00000297798.7_Missense_Mutation_p.G158V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	454					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGGGGCATTGGAGATTTTGGC	0.483																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(1360-1362)gGa>gTa		heparan-alpha-glucosaminide N-acetyltransferase							65.0	63.0	64.0					8																	43047473		1935	4142	6077	SO:0001583	missense	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43047473G>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1361G>T	8.37:g.43047473G>T	ENSP00000389524:p.Gly454Val					HGSNAT_ENST00000379644.4_Missense_Mutation_p.G426V|HGSNAT_ENST00000521576.1_Missense_Mutation_p.G143V|HGSNAT_ENST00000297798.7_Missense_Mutation_p.G158V	p.G454V			Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		13	1361	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	454					B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.1361G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.357946|4.357946	0.82243|0.82243	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798|ENST00000524016	D;D;D;D|.	0.88586|.	-2.4;-2.4;-2.4;-2.4|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75236|0.75236	0.3822|0.3822	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.66351|.	0.943|.	T|T	0.75847|0.75847	-0.3173|-0.3173	10|5	0.42905|.	T|.	0.14|.	-12.0854|-12.0854	16.1626|16.1626	0.81731|0.81731	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	454|.	Q68CP4|.	HGNAT_HUMAN|.	V|C	454;426;143;158|127	ENSP00000389524:G454V;ENSP00000368965:G426V;ENSP00000429029:G143V;ENSP00000297798:G158V|.	ENSP00000297798:G158V|.	G|W	+|+	2|3	0|0	HGSNAT|HGSNAT	43166630|43166630	1.000000|1.000000	0.71417|0.71417	0.894000|0.894000	0.35097|0.35097	0.790000|0.790000	0.44656|0.44656	9.028000|9.028000	0.93712|0.93712	2.405000|2.405000	0.81733|0.81733	0.579000|0.579000	0.79373|0.79373	GGA|TGG		0.483	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		3	16	1	0	0.115264	1	0.116507	3	16				
ZDBF2	57683	broad.mit.edu	37	2	207170663	207170663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207170663G>T	ENST00000374423.3	+	5	1797	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	471							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E471*(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATTGTTAAAGAAATAAGTCT	0.333																																						ENST00000374423.3																			2	Substitution - Nonsense(2)	p.E471*(2)	large_intestine(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1411-1413)Gaa>Taa		zinc finger, DBF-type containing 2							43.0	41.0	42.0					2																	207170663		1847	4090	5937	SO:0001587	stop_gained	57683						nucleic acid binding|zinc ion binding	g.chr2:207170663G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1411G>T	2.37:g.207170663G>T	ENSP00000363545:p.Glu471*						p.E471*	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1797	+			471					Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	c.1411G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	38	6.993924	0.97987	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.89	4.89	0.63831	.	0.851161	0.09773	N	0.757716	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.2831	0.66226	0.0:0.0:1.0:0.0	.	.	.	.	X	471	.	ENSP00000363545:E471X	E	+	1	0	ZDBF2	206878908	0.997000	0.39634	0.033000	0.17914	0.004000	0.04260	3.749000	0.55150	2.638000	0.89438	0.603000	0.83216	GAA		0.333	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		9	23	1	0	0.000274275	1	0.000292037	9	23				
SERPINC1	462	broad.mit.edu	37	1	173881126	173881126	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173881126C>A	ENST00000367698.3	-	3	553	c.435G>T	c.(433-435)gaG>gaT	p.E145D	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	145					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CAGATGTTTTCTCAGATATGG	0.428																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(433-435)gaG>gaT		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						168.0	157.0	161.0					1																	173881126		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173881126C>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.435G>T	1.37:g.173881126C>A	ENSP00000356671:p.Glu145Asp					SERPINC1_ENST00000494024.1_5'UTR	p.E145D	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			3	553	-			145					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.435G>T	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885564	0.72410	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.82526	-1.62	5.66	1.72	0.24424	Serpin domain (3);	0.464356	0.26804	N	0.022415	T	0.69522	0.3120	L	0.43646	1.37	0.53688	D	0.999977	P	0.37207	0.587	B	0.42163	0.378	T	0.71497	-0.4575	10	0.62326	D	0.03	.	10.1891	0.43015	0.0:0.6778:0.0:0.3222	.	145	P01008	ANT3_HUMAN	D	145	ENSP00000356671:E145D	ENSP00000307953:E145D	E	-	3	2	SERPINC1	172147749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.831000	0.27476	0.760000	0.33108	0.591000	0.81541	GAG		0.428	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		31	48	1	0	9.65021e-13	1	1.22324e-12	31	48				
PDCD11	22984	broad.mit.edu	37	10	105158249	105158249	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105158249T>G	ENST00000369797.3	+	2	160	c.66T>G	c.(64-66)gcT>gcG	p.A22A	USMG5_ENST00000369825.1_5'Flank|USMG5_ENST00000369811.1_5'Flank|USMG5_ENST00000369815.1_5'Flank|USMG5_ENST00000309579.3_5'Flank|USMG5_ENST00000337003.4_5'Flank	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	22					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGAGAAAGCTTTCCAGCAGT	0.403																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(64-66)gcT>gcG		programmed cell death 11							138.0	128.0	131.0					10																	105158249		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105158249T>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.66T>G	10.37:g.105158249T>G							p.A22A	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	2	160	+		Colorectal(252;0.0747)|Breast(234;0.128)	22					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.66T>G	CCDS31276.1																																																																																				0.403	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			30	57	0	0	0	1	0	30	57				
SUSD1	64420	broad.mit.edu	37	9	114864560	114864560	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:114864560C>A	ENST00000374270.3	-	9	1349	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y	SUSD1_ENST00000374264.2_Missense_Mutation_p.D393Y|SUSD1_ENST00000374263.3_Missense_Mutation_p.D393Y	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	393						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTAAGAGATCAACTTCTAAA	0.358																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1177-1179)Gat>Tat		sushi domain containing 1							43.0	44.0	44.0					9																	114864560		2203	4296	6499	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114864560C>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1177G>T	9.37:g.114864560C>A	ENSP00000363388:p.Asp393Tyr					SUSD1_ENST00000374264.2_Missense_Mutation_p.D393Y|SUSD1_ENST00000374263.3_Missense_Mutation_p.D393Y	p.D393Y	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			9	1349	-			393					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1177G>T	CCDS6783.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.59|13.59|13.59	2.281340|2.281340|2.281340	0.40394|0.40394|0.40394	.|.|.	.|.|.	ENSG00000106868|ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000415074|ENST00000355396	T;T;T|.|.	0.74315|.|.	-0.76;-0.78;-0.83|.|.	4.41|4.41|4.41	3.43|3.43|3.43	0.39272|0.39272|0.39272	.|.|.	0.171891|.|.	0.27451|.|.	N|.|.	0.019301|.|.	T|T|.	0.55417|0.55417|.	0.1919|0.1919|.	M|M|M	0.72118|0.72118|0.72118	2.19|2.19|2.19	0.29407|0.29407|0.29407	N|N|N	0.86149|0.86149|0.86149	D;D;D|.|.	0.76494|.|.	0.999;0.999;0.999|.|.	D;D;D|.|.	0.76071|.|.	0.986;0.987;0.968|.|.	T|T|.	0.53201|0.53201|.	-0.8472|-0.8472|.	10|5|.	0.62326|.|.	D|.|.	0.03|.|.	-15.4699|-15.4699|-15.4699	9.7637|9.7637|9.7637	0.40548|0.40548|0.40548	0.0:0.789:0.211:0.0|0.0:0.789:0.211:0.0|0.0:0.789:0.211:0.0	.|.|.	393;393;393|.|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.|.	.;.;SUSD1_HUMAN|.|.	Y|F|L	393|219|376	ENSP00000363388:D393Y;ENSP00000363381:D393Y;ENSP00000363382:D393Y|.|.	ENSP00000363381:D393Y|.|.	D|L|X	-|-|-	1|3|2	0|2|2	SUSD1|SUSD1|SUSD1	113904381|113904381|113904381	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.492000|0.492000|0.492000	0.33523|0.33523|0.33523	0.806000|0.806000|0.806000	0.27126|0.27126|0.27126	2.161000|2.161000|2.161000	0.67846|0.67846|0.67846	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAT|TTG|TGA		0.358	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		7	14	1	0	0.00198382	1	0.00207034	7	14				
SORBS2	8470	broad.mit.edu	37	4	186535983	186535983	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186535983A>G	ENST00000284776.7	-	17	3393		c.e17+1		SORBS2_ENST00000449407.2_Splice_Site|SORBS2_ENST00000393528.3_Splice_Site|SORBS2_ENST00000498125.1_Splice_Site|SORBS2_ENST00000437304.2_Splice_Site|SORBS2_ENST00000431808.1_Splice_Site|SORBS2_ENST00000448662.2_Splice_Site|SORBS2_ENST00000319471.9_Splice_Site|SORBS2_ENST00000418609.1_Splice_Site|SORBS2_ENST00000355634.5_Splice_Site	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGCTGGGCTACCTTTCTCAG	0.418																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.e18+1		sorbin and SH3 domain containing 2							97.0	100.0	99.0					4																	186535983		2203	4300	6503	SO:0001630	splice_region_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186535983A>G		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2883+1T>C	4.37:g.186535983A>G						SORBS2_ENST00000437304.2_Splice_Site|SORBS2_ENST00000393528.3_Splice_Site|SORBS2_ENST00000355634.5_Splice_Site|SORBS2_ENST00000319471.9_Splice_Site|SORBS2_ENST00000284776.7_Splice_Site|SORBS2_ENST00000448662.2_Splice_Site|SORBS2_ENST00000449407.2_Splice_Site|SORBS2_ENST00000498125.1_Splice_Site|SORBS2_ENST00000418609.1_Splice_Site				O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	18	3447	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)						A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Splice_Site	SNP	ENST00000284776.7	37		CCDS3845.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048649	0.55110	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1467	0.72657	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORBS2	186772977	1.000000	0.71417	0.985000	0.45067	0.598000	0.36846	7.370000	0.79589	2.225000	0.72522	0.455000	0.32223	.		0.418	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	Intron	15	34	0	0	0	1	0	15	34				
CEP290	80184	broad.mit.edu	37	12	88465107	88465107	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88465107C>A	ENST00000552810.1	-	43	6318	c.5975G>T	c.(5974-5976)aGa>aTa	p.R1992I	CEP290_ENST00000547691.2_Missense_Mutation_p.R1052I|CEP290_ENST00000397838.3_Missense_Mutation_p.R1052I|CEP290_ENST00000309041.7_Missense_Mutation_p.R1994I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1992					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTCAAGATTTCTCTTTTTTAA	0.348																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(5974-5976)aGa>aTa		centrosomal protein 290kDa							96.0	86.0	89.0					12																	88465107		1800	4066	5866	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88465107C>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5975G>T	12.37:g.88465107C>A	ENSP00000448012:p.Arg1992Ile					CEP290_ENST00000547691.2_Missense_Mutation_p.R1052I|CEP290_ENST00000397838.3_Missense_Mutation_p.R1052I|CEP290_ENST00000309041.7_Missense_Mutation_p.R1994I	p.R1992I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			43	6318	-			1992					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.5975G>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209865	0.58343	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.66638	0.37;-0.22;-0.22;0.37	5.23	2.18	0.27775	.	0.176151	0.64402	D	0.000011	T	0.58235	0.2108	M	0.63843	1.955	0.46203	D	0.998927	P	0.43633	0.813	B	0.39904	0.313	T	0.55903	-0.8067	10	0.45353	T	0.12	.	6.8963	0.24257	0.0:0.6072:0.1174:0.2754	.	1992	O15078	CE290_HUMAN	I	1052;1992;1994;1052	ENSP00000446905:R1052I;ENSP00000448012:R1992I;ENSP00000308021:R1994I;ENSP00000380938:R1052I	ENSP00000308021:R1994I	R	-	2	0	CEP290	86989238	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.587000	0.23909	0.686000	0.31488	0.484000	0.47621	AGA		0.348	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		13	18	1	0	0.000151284	1	0.00016287	13	18				
MAP7	9053	broad.mit.edu	37	6	136667149	136667149	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136667149A>C	ENST00000354570.3	-	17	2494	c.2084T>G	c.(2083-2085)aTt>aGt	p.I695S	MAP7_ENST00000454590.1_Missense_Mutation_p.I717S|MAP7_ENST00000438100.2_Missense_Mutation_p.I680S|MAP7_ENST00000432797.2_Missense_Mutation_p.I549S|MAP7_ENST00000544465.1_Missense_Mutation_p.I680S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	695					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TAAGTTTATAATTTCTTCAAA	0.323																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2083-2085)aTt>aGt		microtubule-associated protein 7							54.0	56.0	55.0					6																	136667149		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136667149A>C	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.2084T>G	6.37:g.136667149A>C	ENSP00000346581:p.Ile695Ser					MAP7_ENST00000438100.2_Missense_Mutation_p.I680S|MAP7_ENST00000454590.1_Missense_Mutation_p.I717S|MAP7_ENST00000432797.2_Missense_Mutation_p.I549S|MAP7_ENST00000544465.1_Missense_Mutation_p.I680S	p.I695S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	17	2494	-	Colorectal(23;0.24)		695					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.2084T>G	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783414	0.49891	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45	5.71	4.52	0.55395	.	0.336436	0.25481	N	0.030363	T	0.03959	0.0111	L	0.53249	1.67	0.29318	N	0.867528	P;P;P;P;P;P;P	0.43542	0.712;0.712;0.592;0.456;0.81;0.642;0.456	B;B;B;B;B;B;B	0.41917	0.142;0.19;0.14;0.091;0.275;0.37;0.066	T	0.10405	-1.0631	10	0.72032	D	0.01	-5.2462	12.836	0.57773	0.8635:0.1365:0.0:0.0	.	680;717;680;717;601;658;695	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	S	695;717;680;680;549;601	ENSP00000346581:I695S;ENSP00000414712:I717S;ENSP00000445737:I680S;ENSP00000400790:I680S;ENSP00000414879:I549S	ENSP00000344217:I601S	I	-	2	0	MAP7	136708842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.005000	0.63972	0.963000	0.38082	0.460000	0.39030	ATT		0.323	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		13	20	0	0	0	1	0	13	20				
ATP13A5	344905	broad.mit.edu	37	3	193049090	193049090	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193049090T>G	ENST00000342358.4	-	12	1400	c.1283A>C	c.(1282-1284)aAa>aCa	p.K428T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	428						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CACAGTATCTTTTGGAGGAAC	0.542																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1282-1284)aAa>aCa		ATPase type 13A5							66.0	55.0	59.0					3																	193049090		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193049090T>G	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1283A>C	3.37:g.193049090T>G	ENSP00000341942:p.Lys428Thr						p.K428T	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	12	1400	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		428					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1283A>C	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	9.534	1.111560	0.20714	.	.	ENSG00000187527	ENST00000342358	D	0.88354	-2.37	6.16	-2.24	0.06909	ATPase, P-type, ATPase-associated domain (1);	0.914340	0.09561	N	0.785549	T	0.81541	0.4844	L	0.35487	1.065	0.09310	N	0.999997	B	0.23990	0.095	B	0.33121	0.158	T	0.65475	-0.6159	10	0.15066	T	0.55	-0.6494	8.6743	0.34170	0.0:0.313:0.108:0.579	.	428	Q4VNC0	AT135_HUMAN	T	428	ENSP00000341942:K428T	ENSP00000341942:K428T	K	-	2	0	ATP13A5	194531784	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	-0.003000	0.12901	-0.512000	0.06505	-0.248000	0.11899	AAA		0.542	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		15	23	0	0	0	1	0	15	23				
ASPM	259266	broad.mit.edu	37	1	197099114	197099114	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197099114G>A	ENST00000367409.4	-	8	2816	c.2560C>T	c.(2560-2562)Cgc>Tgc	p.R854C	ASPM_ENST00000367408.1_Missense_Mutation_p.R104C|ASPM_ENST00000294732.7_Missense_Mutation_p.R854C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	854					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAAAGTAGGCGATTCAGAATA	0.403																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(2560-2562)Cgc>Tgc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							153.0	139.0	144.0					1																	197099114		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197099114G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2560C>T	1.37:g.197099114G>A	ENSP00000356379:p.Arg854Cys					ASPM_ENST00000367408.1_Missense_Mutation_p.R104C|ASPM_ENST00000294732.7_Missense_Mutation_p.R854C	p.R854C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			8	2816	-			854					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.2560C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211535	0.95069	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.61040	0.14;0.14;0.14	5.47	5.47	0.80525	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81590	-0.0863	10	0.72032	D	0.01	.	19.2852	0.94067	0.0:0.0:1.0:0.0	.	854;854	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	C	854;854;104	ENSP00000356379:R854C;ENSP00000294732:R854C;ENSP00000356378:R104C	ENSP00000294732:R854C	R	-	1	0	ASPM	195365737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.708000	0.92522	0.650000	0.86243	CGC		0.403	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		32	51	0	0	0	1	0	32	51				
ABCA1	19	broad.mit.edu	37	9	107595031	107595031	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107595031T>C	ENST00000374736.3	-	12	1727	c.1333A>G	c.(1333-1335)Aat>Gat	p.N445D	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	445					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AAGTGGTCATTGTCCCTGCTG	0.453																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1333-1335)Aat>Gat		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						169.0	133.0	145.0					9																	107595031		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107595031T>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1333A>G	9.37:g.107595031T>C	ENSP00000363868:p.Asn445Asp						p.N445D	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	12	1727	-			445					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.1333A>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	7.337	0.620143	0.14193	.	.	ENSG00000165029	ENST00000374736	D	0.85013	-1.93	5.61	5.61	0.85477	.	0.204155	0.49916	D	0.000129	T	0.77890	0.4198	L	0.36672	1.1	0.80722	D	1	B	0.19200	0.034	B	0.20184	0.028	T	0.71800	-0.4483	10	0.12430	T	0.62	.	13.747	0.62881	0.0:0.0:0.0:1.0	.	445	O95477	ABCA1_HUMAN	D	445	ENSP00000363868:N445D	ENSP00000363868:N445D	N	-	1	0	ABCA1	106634852	1.000000	0.71417	0.972000	0.41901	0.307000	0.27823	4.404000	0.59735	2.127000	0.65507	0.460000	0.39030	AAT		0.453	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		19	50	0	0	0	1	0	19	50				
UBN1	29855	broad.mit.edu	37	16	4910743	4910743	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4910743G>T	ENST00000396658.4	+	6	1453	c.750G>T	c.(748-750)aaG>aaT	p.K250N	UBN1_ENST00000262376.6_Missense_Mutation_p.K250N|UBN1_ENST00000545171.1_Missense_Mutation_p.K250N|UBN1_ENST00000590769.1_Missense_Mutation_p.K250N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	250	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGATGCTAAAGAAATTTCAGA	0.488																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(748-750)aaG>aaT		ubinuclein 1							97.0	108.0	105.0					16																	4910743		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910743G>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.750G>T	16.37:g.4910743G>T	ENSP00000379894:p.Lys250Asn					UBN1_ENST00000590769.1_Missense_Mutation_p.K250N|UBN1_ENST00000262376.6_Missense_Mutation_p.K250N|UBN1_ENST00000545171.1_Missense_Mutation_p.K250N	p.K250N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1453	+			250			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.750G>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770235	0.69992	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.51574	1.29;0.7;1.29	5.77	5.77	0.91146	.	0.151863	0.64402	D	0.000018	T	0.59404	0.2191	L	0.48642	1.525	0.58432	D	0.999991	D;D	0.56746	0.977;0.961	P;P	0.55923	0.787;0.617	T	0.55328	-0.8158	10	0.48119	T	0.1	-21.9386	20.3473	0.98799	0.0:0.0:1.0:0.0	.	250;250	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	N	250	ENSP00000262376:K250N;ENSP00000442379:K250N;ENSP00000379894:K250N	ENSP00000262376:K250N	K	+	3	2	UBN1	4850744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.168000	0.58216	2.884000	0.98904	0.655000	0.94253	AAG		0.488	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		40	84	1	0	1.66425e-11	1	2.0722e-11	40	84				
EBF2	64641	broad.mit.edu	37	8	25897597	25897597	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:25897597C>A	ENST00000520164.1	-	5	966	c.429G>T	c.(427-429)caG>caT	p.Q143H	EBF2_ENST00000408929.3_5'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	143					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GATTCTTATTCTGTCCCTCGT	0.557																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(427-429)caG>caT		early B-cell factor 2							137.0	137.0	137.0					8																	25897597		1946	4141	6087	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25897597C>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.429G>T	8.37:g.25897597C>A	ENSP00000430241:p.Gln143His					EBF2_ENST00000408929.3_5'UTR	p.Q143H	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	5	966	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	143					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.429G>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654558	0.67472	.	.	ENSG00000221818	ENST00000520164	T	0.54071	0.59	5.5	2.55	0.30701	.	0.000000	0.64402	U	0.000001	T	0.70570	0.3239	M	0.86740	2.835	0.80722	D	1	D	0.63880	0.993	D	0.62955	0.909	T	0.71823	-0.4476	10	0.87932	D	0	-2.7934	9.9997	0.41920	0.0:0.7263:0.0:0.2737	.	143	Q9HAK2	COE2_HUMAN	H	143	ENSP00000430241:Q143H	ENSP00000430241:Q143H	Q	-	3	2	EBF2	25953514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.983000	0.29552	0.192000	0.20272	0.655000	0.94253	CAG		0.557	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		5	166	1	0	1	1	1	5	166				
ZNF280A	129025	broad.mit.edu	37	22	22869151	22869151	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22869151C>A	ENST00000302097.3	-	2	1056	c.804G>T	c.(802-804)aaG>aaT	p.K268N	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	268					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(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATTTTCTTTCTTGGGATCAA	0.428																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(802-804)aaG>aaT		zinc finger protein 280A							129.0	116.0	121.0					22																	22869151		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869151C>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.804G>T	22.37:g.22869151C>A	ENSP00000302855:p.Lys268Asn						p.K268N	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1056	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	268						Missense_Mutation	SNP	ENST00000302097.3	37	c.804G>T	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	5.419	0.262425	0.10294	.	.	ENSG00000169548	ENST00000302097	T	0.01203	5.18	3.9	2.82	0.32997	.	.	.	.	.	T	0.01695	0.0054	L	0.57536	1.79	0.09310	N	0.999998	P	0.40398	0.716	B	0.36335	0.222	T	0.45891	-0.9230	9	0.87932	D	0	-0.4466	9.2556	0.37581	0.0:0.7005:0.2995:0.0	.	268	P59817	Z280A_HUMAN	N	268	ENSP00000302855:K268N	ENSP00000302855:K268N	K	-	3	2	ZNF280A	21199151	0.959000	0.32827	0.125000	0.21846	0.020000	0.10135	0.465000	0.22004	1.106000	0.41623	0.655000	0.94253	AAG		0.428	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		26	51	1	0	3.73808e-20	1	5.11168e-20	26	51				
KIAA2018	205717	broad.mit.edu	37	3	113374248	113374248	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113374248C>T	ENST00000478658.1	-	5	6298	c.6281G>A	c.(6280-6282)cGa>cAa	p.R2094Q	KIAA2018_ENST00000316407.4_Missense_Mutation_p.R2094Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	2094						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGCTGGAGTTCGAGTGGCACT	0.443																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(6280-6282)cGa>cAa		KIAA2018							80.0	81.0	81.0					3																	113374248		2036	4192	6228	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374248C>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.6281G>A	3.37:g.113374248C>T	ENSP00000420721:p.Arg2094Gln					KIAA2018_ENST00000478658.1_Missense_Mutation_p.R2094Q|KIAA2018_ENST00000491165.1_Intron	p.R2094Q	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	6691	-			2094					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.6281G>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184910	0.78677	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.34472	1.36;1.36	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.49830	0.1580	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.52909	-0.8512	10	0.66056	D	0.02	-9.1775	19.132	0.93412	0.0:1.0:0.0:0.0	.	2094	Q68DE3	K2018_HUMAN	Q	2094	ENSP00000320794:R2094Q;ENSP00000420721:R2094Q	ENSP00000320794:R2094Q	R	-	2	0	KIAA2018	114856938	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.529000	0.85273	0.462000	0.41574	CGA		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		21	50	0	0	0	1	0	21	50				
BTN2A3P	54718	broad.mit.edu	37	6	26431307	26431307	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26431307C>A	ENST00000466808.2	+	0	1447							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											TAAGTGGATTCTCTCTCTGGA	0.512																																						ENST00000466808.2																			0																				87.0	87.0	87.0					6																	26431307		2203	4300	6503			0							g.chr6:26431307C>A	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431307C>A														0	1447	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.512	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		48	21	1	0	3.39706e-21	1	4.68637e-21	48	21				
UGT1A5	54579	broad.mit.edu	37	2	234621645	234621645	+	Missense_Mutation	SNP	C	C	G	rs150697955	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234621645C>G	ENST00000373414.3	+	1	8	c.8C>G	c.(7-9)aCa>aGa	p.T3R	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.T3R|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	3						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GAGATGGCCACAGGACTCCAG	0.587													C|||	21	0.00419329	0.0008	0.0	5008	,	,		17609	0.0		0.0	False		,,,				2504	0.0204					ENST00000373414.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22						c.(7-9)aCa>aGa				C	,,,,ARG/THR,,	2,4404	4.2+/-10.8	0,2,2201	51.0	45.0	47.0		,,,,8,,	-4.5	0.0	2	dbSNP_134	47	0,8600		0,0,4300	no	intron,intron,intron,intron,missense,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9	NM_001072.3,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,,,,71,,	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	,,,,,,	,,,,3/535,,	234621645	2,13004	2203	4300	6503	SO:0001583	missense	0							g.chr2:234621645C>G	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.8C>G	2.37:g.234621645C>G	ENSP00000362513:p.Thr3Arg					UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron	p.T3R	NM_019078.1	NP_061951.1				Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	8	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.8C>G	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	C	7.621	0.676843	0.14841	4.54E-4	0.0	ENSG00000240224	ENST00000373414	T	0.58940	0.3	4.83	-4.48	0.03515	.	0.818368	0.11359	N	0.572081	T	0.33411	0.0862	N	0.12746	0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.25745	-1.0123	10	0.15952	T	0.53	.	13.6843	0.62506	0.0:0.3191:0.0:0.6809	.	3;3	Q5DSZ9;P35504	.;UD15_HUMAN	R	3	ENSP00000362513:T3R	ENSP00000362513:T3R	T	+	2	0	UGT1A5	234286384	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-3.733000	0.00380	-0.790000	0.04492	-0.273000	0.10243	ACA		0.587	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		29	56	0	0	0	1	0	29	56				
BTBD11	121551	broad.mit.edu	37	12	108010898	108010898	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108010898C>T	ENST00000280758.5	+	8	2562	c.2034C>T	c.(2032-2034)ggC>ggT	p.G678G	BTBD11_ENST00000357167.4_Silent_p.G215G|BTBD11_ENST00000490090.2_Silent_p.G678G|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Silent_p.G678G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	678						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGGTGGAAGGCTCAGTGGAGC	0.592																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2032-2034)ggC>ggT		BTB (POZ) domain containing 11							133.0	113.0	120.0					12																	108010898		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108010898C>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2034C>T	12.37:g.108010898C>T						RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Silent_p.G215G|BTBD11_ENST00000490090.2_Silent_p.G678G|BTBD11_ENST00000420571.2_Silent_p.G678G	p.G678G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			8	2562	+			678					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.2034C>T	CCDS31893.1																																																																																				0.592	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		33	57	0	0	0	1	0	33	57				
LRRC8B	23507	broad.mit.edu	37	1	90048689	90048689	+	Silent	SNP	C	C	T	rs190907617		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:90048689C>T	ENST00000330947.2	+	5	840	c.480C>T	c.(478-480)ttC>ttT	p.F160F	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Silent_p.F160F|LRRC8B_ENST00000439853.1_Silent_p.F160F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	160					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F160F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		ACAAGTGCTTCGATTCTCCAT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19574	0.001		0.0	False		,,,				2504	0.0					ENST00000330947.2																			1	Substitution - coding silent(1)	p.F160F(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(478-480)ttC>ttT		leucine rich repeat containing 8 family, member B							84.0	89.0	87.0					1																	90048689		2203	4300	6503	SO:0001819	synonymous_variant	23507					integral to membrane		g.chr1:90048689C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.480C>T	1.37:g.90048689C>T						LRRC8B_ENST00000358200.4_Silent_p.F160F|LRRC8B_ENST00000439853.1_Silent_p.F160F	p.F160F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	840	+		all_lung(203;0.17)	160					D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	c.480C>T	CCDS724.1																																																																																				0.527	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		44	76	0	0	0	1	0	44	76				
SPTA1	6708	broad.mit.edu	37	1	158605732	158605732	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158605732C>A	ENST00000368147.4	-	38	5583	c.5403G>T	c.(5401-5403)tgG>tgT	p.W1801C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1801					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.W1801C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTCTCCCAGTGTTCAA	0.522																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.W1801C(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5401-5403)tgG>tgT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							96.0	100.0	98.0					1																	158605732		1950	4145	6095	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158605732C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5403G>T	1.37:g.158605732C>A	ENSP00000357129:p.Trp1801Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.W1801C	p.W1801C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			38	5583	-	all_hematologic(112;0.0378)		1801					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5403G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150324	0.78001	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68903	-0.36;-0.36	5.65	5.65	0.86999	.	0.000000	0.30410	N	0.009696	D	0.84999	0.5597	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87097	0.2176	10	0.72032	D	0.01	.	18.4695	0.90767	0.0:1.0:0.0:0.0	.	1801	P02549	SPTA1_HUMAN	C	1801	ENSP00000357130:W1801C;ENSP00000357129:W1801C	ENSP00000357129:W1801C	W	-	3	0	SPTA1	156872356	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.106000	0.77039	2.941000	0.99782	0.655000	0.94253	TGG		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		42	88	1	0	1.59361e-14	1	2.07668e-14	42	88				
HOMER1	9456	broad.mit.edu	37	5	78734966	78734966	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78734966C>T	ENST00000334082.6	-	5	1836	c.394G>A	c.(394-396)Gca>Aca	p.A132T	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A132T	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	132					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCCCCGCCTGCGGATTCCTTT	0.418																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(394-396)Gca>Aca		homer homolog 1 (Drosophila)							84.0	81.0	82.0					5																	78734966		1822	4083	5905	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78734966C>T	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.394G>A	5.37:g.78734966C>T	ENSP00000334382:p.Ala132Thr					HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A132T|HOMER1_ENST00000282260.6_Intron	p.A132T	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	5	1836	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	132					B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.394G>A	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770089	0.49680	.	.	ENSG00000152413	ENST00000334082;ENST00000508576	T;T	0.44083	2.21;0.93	5.46	5.46	0.80206	.	0.114681	0.64402	D	0.000019	T	0.36276	0.0961	L	0.31926	0.97	0.80722	D	1	B;B	0.15141	0.012;0.005	B;B	0.12837	0.008;0.007	T	0.07712	-1.0758	10	0.27082	T	0.32	-16.0153	19.3022	0.94148	0.0:1.0:0.0:0.0	.	132;132	Q86YM7-3;Q86YM7	.;HOME1_HUMAN	T	132	ENSP00000334382:A132T;ENSP00000426651:A132T	ENSP00000334382:A132T	A	-	1	0	HOMER1	78770722	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.377000	0.66184	2.552000	0.86080	0.585000	0.79938	GCA		0.418	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		7	50	0	0	0	1	0	7	50				
CTBP2	1488	broad.mit.edu	37	10	126678217	126678217	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:126678217A>G	ENST00000337195.5	-	11	1607	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	CTBP2_ENST00000531469.1_Missense_Mutation_p.M403T|CTBP2_ENST00000334808.6_Missense_Mutation_p.M471T|CTBP2_ENST00000411419.2_Missense_Mutation_p.M403T|CTBP2_ENST00000494626.2_Missense_Mutation_p.M403T|CTBP2_ENST00000309035.6_Missense_Mutation_p.M943T	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	403					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GATCCCTTCCATGGCTGCAGG	0.577																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2827-2829)aTg>aCg		C-terminal binding protein 2							49.0	47.0	48.0					10																	126678217		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126678217A>G	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.1208T>C	10.37:g.126678217A>G	ENSP00000338615:p.Met403Thr					CTBP2_ENST00000411419.2_Missense_Mutation_p.M403T|CTBP2_ENST00000531469.1_Missense_Mutation_p.M403T|CTBP2_ENST00000337195.5_Missense_Mutation_p.M403T|CTBP2_ENST00000494626.2_Missense_Mutation_p.M403T|CTBP2_ENST00000334808.6_Missense_Mutation_p.M471T	p.M943T	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	9	2958	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	403					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.2828T>C	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730589	0.30684	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.82619	-1.55;-1.6;-1.63;-1.55;-1.55;-1.55	5.12	5.12	0.69794	.	0.192375	0.52532	D	0.000071	T	0.72835	0.3510	N	0.14661	0.345	0.48762	D	0.999708	B;B;B	0.21688	0.0;0.059;0.001	B;B;B	0.25884	0.001;0.064;0.002	T	0.71368	-0.4614	10	0.62326	D	0.03	.	15.0938	0.72217	1.0:0.0:0.0:0.0	.	403;943;471	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	T	403;943;471;403;403;403	ENSP00000338615:M403T;ENSP00000311825:M943T;ENSP00000357816:M471T;ENSP00000434630:M403T;ENSP00000436285:M403T;ENSP00000410474:M403T	ENSP00000311825:M943T	M	-	2	0	CTBP2	126668207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.651000	0.91078	2.153000	0.67306	0.528000	0.53228	ATG		0.577	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		10	44	0	0	0	1	0	10	44				
FANCG	2189	broad.mit.edu	37	9	35079490	35079490	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35079490C>T	ENST00000378643.3	-	1	523	c.32G>A	c.(31-33)aGc>aAc	p.S11N	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	11					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCCAGGCAGCTGGAGCCCAC	0.627			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Mis, N, F, S"""	"""Fanconi anemia, complementation group G"""			L		"""AML, leukemia"""			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(31-33)aGc>aAc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							75.0	76.0	75.0					9																	35079490		2203	4300	6503	SO:0001583	missense	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35079490C>T	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.32G>A	9.37:g.35079490C>T	ENSP00000367910:p.Ser11Asn						p.S11N	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		1	523	-			11						Missense_Mutation	SNP	ENST00000378643.3	37	c.32G>A	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942581	0.53079	.	.	ENSG00000221829	ENST00000378643;ENST00000543657;ENST00000448890	T;T	0.78481	0.43;-1.18	4.96	1.04	0.20106	.	.	.	.	.	T	0.70850	0.3271	M	0.68317	2.08	0.25526	N	0.987327	B	0.12013	0.005	B	0.09377	0.004	T	0.55829	-0.8079	9	0.25106	T	0.35	-1.5716	7.1888	0.25814	0.0:0.6328:0.0:0.3672	.	11	O15287	FANCG_HUMAN	N	11	ENSP00000367910:S11N;ENSP00000409607:S11N	ENSP00000367910:S11N	S	-	2	0	FANCG	35069490	0.987000	0.35691	0.995000	0.50966	0.544000	0.35116	-0.063000	0.11655	0.091000	0.17302	-0.291000	0.09656	AGC		0.627	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		28	52	0	0	0	1	0	28	52				
ASZ1	136991	broad.mit.edu	37	7	117024855	117024855	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117024855A>G	ENST00000284629.2	-	6	674	c.612T>C	c.(610-612)ctT>ctC	p.L204L		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TATTAGCTCCAAGTTCAAGCA	0.368																																						ENST00000284629.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(610-612)ctT>ctC		ankyrin repeat, SAM and basic leucine zipper domain containing 1							154.0	139.0	144.0					7																	117024855		2203	4300	6503	SO:0001819	synonymous_variant	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117024855A>G	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.612T>C	7.37:g.117024855A>G							p.L204L	NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		6	674	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		204						Silent	SNP	ENST00000284629.2	37	c.612T>C	CCDS5772.1																																																																																				0.368	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		22	46	0	0	0	1	0	22	46				
OR4N2	390429	broad.mit.edu	37	14	20295871	20295871	+	Silent	SNP	G	G	A	rs144051874	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20295871G>A	ENST00000315947.1	+	1	264	c.264G>A	c.(262-264)gcG>gcA	p.A88A	OR4N2_ENST00000568211.1_Silent_p.A88A	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTCTCTGCGAAGAAGATAA	0.517																																						ENST00000568211.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(262-264)gcG>gcA		olfactory receptor, family 4, subfamily N, member 2		G		1,4405		0,1,2202	147.0	165.0	159.0		264	0.5	1.0	14	dbSNP_134	159	1,8599		0,1,4299	no	coding-synonymous	OR4N2	NM_001004723.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		88/308	20295871	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295871G>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.264G>A	14.37:g.20295871G>A						OR4N2_ENST00000315947.1_Silent_p.A88A	p.A88A			Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	264	+	all_cancers(95;0.00108)		88					Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.264G>A	CCDS32022.1																																																																																				0.517	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			56	289	0	0	0	1	0	56	289				
MIPOL1	145282	broad.mit.edu	37	14	37969124	37969124	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:37969124C>A	ENST00000327441.7	+	13	1509	c.1043C>A	c.(1042-1044)tCt>tAt	p.S348Y	MIPOL1_ENST00000537471.1_Missense_Mutation_p.S348Y|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S317Y|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S317Y|MIPOL1_ENST00000536774.1_Missense_Mutation_p.S167Y|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S317Y|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S348Y	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	348						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TTACACAAATCTTTATCTCAA	0.274																																						ENST00000327441.7																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1042-1044)tCt>tAt		mirror-image polydactyly 1							32.0	34.0	33.0					14																	37969124		2198	4298	6496	SO:0001583	missense	145282							g.chr14:37969124C>A	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.1043C>A	14.37:g.37969124C>A	ENSP00000333539:p.Ser348Tyr					MIPOL1_ENST00000556451.1_Missense_Mutation_p.S317Y|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S317Y|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S317Y|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S348Y|MIPOL1_ENST00000536774.1_Missense_Mutation_p.S167Y|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S348Y	p.S348Y	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	13	1509	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		348					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.1043C>A	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657473	0.67586	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.67865	-0.21;-0.18;-0.29;-0.21;-0.21;-0.29	5.15	5.15	0.70609	.	0.083999	0.48286	D	0.000187	T	0.80660	0.4665	M	0.64997	1.995	0.38135	D	0.938269	D;D	0.89917	1.0;1.0	D;D	0.76575	0.982;0.988	D	0.83449	0.0047	10	0.66056	D	0.02	-5.6411	18.9908	0.92791	0.0:1.0:0.0:0.0	.	348;317	Q8TD10;Q49AL5	MIPO1_HUMAN;.	Y	348;167;317;317;348;348;317	ENSP00000333539:S348Y;ENSP00000438319:S317Y;ENSP00000450479:S317Y;ENSP00000379589:S348Y;ENSP00000444254:S348Y;ENSP00000442529:S317Y	ENSP00000333539:S348Y	S	+	2	0	MIPOL1	37038875	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.608000	0.67654	2.567000	0.86603	0.591000	0.81541	TCT		0.274	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		12	23	1	0	0.0809354	1	0.0819999	12	23				
PCDH15	65217	broad.mit.edu	37	10	55955448	55955448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55955448C>A	ENST00000320301.6	-	11	1694	c.1300G>T	c.(1300-1302)Gaa>Taa	p.E434*	PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E412*|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E439*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.E434*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E38*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E397*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.E412*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACATCTTCTATGTCCTTG	0.373										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1300-1302)Gaa>Taa		protocadherin-related 15							89.0	84.0	85.0					10																	55955448		2203	4300	6503	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55955448C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1300G>T	10.37:g.55955448C>A	ENSP00000322604:p.Glu434*	HNSCC(58;0.16)				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E439*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E38*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.E412*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E412*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E397*	p.E434*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			11	1694	-		Melanoma(3;0.117)|Lung SC(717;0.238)	434			Cadherin 4.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.1300G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	42	9.533812	0.99198	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.0383	0.89312	0.0:1.0:0.0:0.0	.	.	.	.	X	434;439;434;434;38;434;434;434;397;434;412;412;434;434;439;434;434	.	ENSP00000322604:E434X	E	-	1	0	PCDH15	55625454	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.060000	0.71141	2.368000	0.80403	0.591000	0.81541	GAA		0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		9	39	1	0	7.48243e-07	1	8.49459e-07	9	39				
PPFIA2	8499	broad.mit.edu	37	12	81741356	81741356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:81741356G>A	ENST00000549396.1	-	18	2348	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*	PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R631*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R656*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R297*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R577*|PPFIA2_ENST00000545296.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	730					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCAGGGCTTCGAGGGGTGAGC	0.522																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2188-2190)Cga>Tga		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							145.0	148.0	147.0					12																	81741356		1985	4156	6141	SO:0001587	stop_gained	8499							g.chr12:81741356G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2188C>T	12.37:g.81741356G>A	ENSP00000450337:p.Arg730*					PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R577*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R297*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R631*|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R656*	p.R730*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			17	2483	-			656					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.2188C>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	37	6.410366	0.97546	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.	.	.	5.51	-0.154	0.13399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1454	16.1562	0.81670	0.0:0.0:0.4612:0.5388	.	.	.	.	X	730;712;297;656;741;712;730;631;730	.	ENSP00000327416:R712X	R	-	1	2	PPFIA2	80265487	1.000000	0.71417	0.087000	0.20705	0.986000	0.74619	3.103000	0.50298	-0.228000	0.09869	0.650000	0.86243	CGA		0.522	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			40	86	0	0	0	1	0	40	86				
INTS6-AS1	100507398	broad.mit.edu	37	13	52035186	52035186	+	RNA	SNP	C	C	T	rs573303151		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52035186C>T	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596050.1_RNA					INTS6 antisense RNA 1																		TCATCAAATTCGACACTGGTC	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22691	0.0		0.0	False		,,,				2504	0.0					ENST00000594959.1																			0																																																			0							g.chr13:52035186C>T	AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52035186C>T						INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000597745.1_RNA								0	411	+									RNA	SNP	ENST00000594959.1	37																																																																																						0.458	INTS6-AS1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462289.1			5	21	0	0	0	1	0	5	21				
ARHGEF10L	55160	broad.mit.edu	37	1	17961057	17961057	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17961057G>T	ENST00000361221.3	+	17	1904	c.1745G>T	c.(1744-1746)aGg>aTg	p.R582M	ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000375420.3_Splice_Site_p.R340M|ARHGEF10L_ENST00000375415.1_Splice_Site_p.R543M|ARHGEF10L_ENST00000452522.1_Splice_Site_p.R543M|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000375408.3_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	582						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCAACCACAGGTACGTGGTT	0.622																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.e17+1		Rho guanine nucleotide exchange factor (GEF) 10-like							84.0	87.0	86.0					1																	17961057		2203	4300	6503	SO:0001630	splice_region_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17961057G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1745+1G>T	1.37:g.17961057G>T						ARHGEF10L_ENST00000375420.3_Splice_Site_p.R340_splice|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000375415.1_Splice_Site_p.R543_splice|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000452522.1_Splice_Site_p.R543_splice|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375408.3_Intron	p.R582_splice	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	17	1904	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	582					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Splice_Site	SNP	ENST00000361221.3	37	c.1745_splice	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282818	0.40394	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375420	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.1	5.1	0.69264	Pleckstrin homology-type (1);	0.177293	0.48767	D	0.000169	T	0.34337	0.0894	L	0.47716	1.5	0.80722	D	1	D;D;D	0.60575	0.972;0.985;0.988	D;P;P	0.69142	0.962;0.773;0.758	T	0.01639	-1.1306	10	0.52906	T	0.07	-14.8049	15.6158	0.76767	0.0:0.0:1.0:0.0	.	340;543;582	B4DTE2;Q9HCE6-2;Q9HCE6	.;.;ARGAL_HUMAN	M	582;543;543;340	ENSP00000355060:R582M;ENSP00000399401:R543M;ENSP00000364564:R543M;ENSP00000364569:R340M	ENSP00000355060:R582M	R	+	2	0	ARHGEF10L	17833644	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.317000	0.65822	2.534000	0.85438	0.655000	0.94253	AGG		0.622	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	Missense_Mutation	9	100	1	0	0.00448238	1	0.00465112	9	100				
COG7	91949	broad.mit.edu	37	16	23415025	23415025	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23415025G>A	ENST00000307149.5	-	13	1978	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	598					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTCCATCTTCGAAATAAGCAA	0.537																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1792-1794)tCg>tTg		component of oligomeric golgi complex 7							86.0	79.0	81.0					16																	23415025		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23415025G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1793C>T	16.37:g.23415025G>A	ENSP00000305442:p.Ser598Leu						p.S598L	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	13	1978	-			598					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.1793C>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390423	0.42410	.	.	ENSG00000168434	ENST00000307149	T	0.45668	0.89	4.63	3.67	0.42095	.	0.355060	0.33650	N	0.004689	T	0.31327	0.0793	L	0.40543	1.245	0.45648	D	0.998578	P	0.35139	0.486	B	0.33042	0.157	T	0.05209	-1.0899	10	0.20519	T	0.43	-3.969	12.0525	0.53515	0.0839:0.0:0.9161:0.0	.	598	P83436	COG7_HUMAN	L	598	ENSP00000305442:S598L	ENSP00000305442:S598L	S	-	2	0	COG7	23322526	1.000000	0.71417	0.946000	0.38457	0.497000	0.33675	4.938000	0.63519	1.089000	0.41292	-0.142000	0.14014	TCG		0.537	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			23	37	0	0	0	1	0	23	37				
PJA1	64219	broad.mit.edu	37	X	68381328	68381328	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:68381328T>C	ENST00000361478.1	-	2	2131	c.1754A>G	c.(1753-1755)gAt>gGt	p.D585G	PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374583.1_Missense_Mutation_p.D585G|PJA1_ENST00000374584.3_Missense_Mutation_p.D397G|PJA1_ENST00000374571.4_Missense_Mutation_p.D530G	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	585					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TGCGCCATGATCTTCAGTGAC	0.562																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(1753-1755)gAt>gGt		praja ring finger 1, E3 ubiquitin protein ligase							128.0	89.0	102.0					X																	68381328		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68381328T>C	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1754A>G	X.37:g.68381328T>C	ENSP00000355014:p.Asp585Gly					PJA1_ENST00000374571.4_Missense_Mutation_p.D530G|PJA1_ENST00000374583.1_Missense_Mutation_p.D585G|PJA1_ENST00000374584.3_Missense_Mutation_p.D397G	p.D585G	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	2131	-			585					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1754A>G	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	T	8.466	0.856526	0.17106	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.16196	2.36;2.56;2.56;2.56	3.53	3.53	0.40419	.	0.000000	0.52532	U	0.000070	T	0.12347	0.0300	L	0.29908	0.895	0.42455	D	0.992765	P;P	0.46512	0.734;0.879	B;B	0.40165	0.321;0.295	T	0.04307	-1.0961	10	0.66056	D	0.02	-5.5849	9.6729	0.40023	0.0:0.0:0.0:1.0	.	585;397	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	G	500;397;585;585;530	ENSP00000363712:D397G;ENSP00000363711:D585G;ENSP00000355014:D585G;ENSP00000363699:D530G	ENSP00000355014:D585G	D	-	2	0	PJA1	68298053	1.000000	0.71417	0.665000	0.29768	0.018000	0.09664	5.522000	0.67092	1.639000	0.50556	0.441000	0.28932	GAT		0.562	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		36	57	0	0	0	1	0	36	57				
BRS3	680	broad.mit.edu	37	X	135570694	135570694	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135570694C>A	ENST00000370648.3	+	1	649	c.421C>A	c.(421-423)Ctc>Atc	p.L141I	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	141					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATTAACAATTCTCAGCGCTGA	0.428																																						ENST00000370648.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23						c.(421-423)Ctc>Atc		bombesin-like receptor 3							96.0	89.0	91.0					X																	135570694		2203	4300	6503	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135570694C>A		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.421C>A	X.37:g.135570694C>A	ENSP00000359682:p.Leu141Ile						p.L141I	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN			1	649	+	Acute lymphoblastic leukemia(192;0.000127)		141						Missense_Mutation	SNP	ENST00000370648.3	37	c.421C>A	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346414	0.82022	.	.	ENSG00000102239	ENST00000370648	T	0.62105	0.05	5.92	5.92	0.95590	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.67896	0.2942	L	0.33753	1.03	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.60058	-0.7337	10	0.02654	T	1	-13.6358	19.2416	0.93887	0.0:1.0:0.0:0.0	.	141	P32247	BRS3_HUMAN	I	141	ENSP00000359682:L141I	ENSP00000359682:L141I	L	+	1	0	BRS3	135398360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.496000	0.84212	0.594000	0.82650	CTC		0.428	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		27	50	1	0	6.32553e-13	1	8.04352e-13	27	50				
KRTAP6-2	337967	broad.mit.edu	37	21	31971111	31971111	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:31971111C>T	ENST00000334897.3	-	1	108	c.83G>A	c.(82-84)gGa>gAa	p.G28E	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	28						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GCGCAGGCTTCCATAGCCATA	0.572																																						ENST00000334897.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(82-84)gGa>gAa		keratin associated protein 6-2							162.0	134.0	144.0					21																	31971111		2203	4300	6503	SO:0001583	missense	337967					intermediate filament		g.chr21:31971111C>T	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.83G>A	21.37:g.31971111C>T	ENSP00000334560:p.Gly28Glu						p.G28E	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN			1	108	-			28						Missense_Mutation	SNP	ENST00000334897.3	37	c.83G>A	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	9.250	1.040541	0.19669	.	.	ENSG00000186930	ENST00000334897	T	0.20332	2.08	4.32	4.32	0.51571	.	.	.	.	.	T	0.25306	0.0615	.	.	.	0.26480	N	0.975136	P	0.45348	0.856	P	0.45195	0.473	T	0.08351	-1.0726	8	0.87932	D	0	.	12.6799	0.56916	0.0:1.0:0.0:0.0	.	28	Q3LI66	KRA62_HUMAN	E	28	ENSP00000334560:G28E	ENSP00000334560:G28E	G	-	2	0	KRTAP6-2	30892982	0.976000	0.34144	0.988000	0.46212	0.326000	0.28443	2.683000	0.46943	2.724000	0.93272	0.644000	0.83932	GGA		0.572	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			36	64	0	0	0	1	0	36	64				
ABCC12	94160	broad.mit.edu	37	16	48121866	48121866	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48121866C>T	ENST00000311303.3	-	25	3951	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1202	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGACAGGATCCTGTGGGATCA	0.438																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3604-3606)caG>caA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							94.0	87.0	89.0					16																	48121866		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48121866C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3606G>A	16.37:g.48121866C>T						ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.Q1202Q	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			25	3951	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1202			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3606G>A	CCDS10730.1																																																																																				0.438	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		10	41	0	0	0	1	0	10	41				
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D			Q9BY31	ZN717_HUMAN	zinc finger protein 717						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502																																						ENST00000478296.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19								zinc finger protein 717							18.0	14.0	15.0					3																	75790798		450	1250	1700			100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790798G>A	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.-4C>T	3.37:g.75790798G>A						ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR				C9JSV9	C9JSV9_HUMAN			0	273	-									Translation_Start_Site	SNP	ENST00000478296.1	37																																																																																						0.502	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223		3	11	0	0	0	1	0	3	11				
CTTNBP2	83992	broad.mit.edu	37	7	117417761	117417761	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117417761A>C	ENST00000160373.3	-	8	2673	c.2582T>G	c.(2581-2583)cTt>cGt	p.L861R		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	861					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTACATAAGAAGCTTGAGGCT	0.458																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2581-2583)cTt>cGt		cortactin binding protein 2							71.0	73.0	72.0					7																	117417761		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117417761A>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2582T>G	7.37:g.117417761A>C	ENSP00000160373:p.Leu861Arg						p.L861R	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	8	2673	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		861					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2582T>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745532	0.69418	.	.	ENSG00000077063	ENST00000160373	T	0.58060	0.36	5.46	5.46	0.80206	Ankyrin repeat-containing domain (3);	0.108661	0.64402	D	0.000005	T	0.65396	0.2687	L	0.50993	1.605	0.50467	D	0.999871	D	0.89917	1.0	D	0.76575	0.988	T	0.67825	-0.5570	10	0.72032	D	0.01	-10.0852	11.5676	0.50815	0.8663:0.0:0.0:0.1336	.	861	Q8WZ74	CTTB2_HUMAN	R	861	ENSP00000160373:L861R	ENSP00000160373:L861R	L	-	2	0	CTTNBP2	117204997	1.000000	0.71417	0.963000	0.40424	0.880000	0.50808	6.389000	0.73199	2.197000	0.70478	0.528000	0.53228	CTT		0.458	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		22	43	0	0	0	1	0	22	43				
PRKD2	25865	broad.mit.edu	37	19	47204175	47204175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47204175C>T	ENST00000291281.4	-	7	1227	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	PRKD2_ENST00000595515.1_Silent_p.E334E|PRKD2_ENST00000600194.1_Silent_p.E177E|PRKD2_ENST00000433867.1_Silent_p.E334E|PRKD2_ENST00000601806.1_Silent_p.E177E			Q9BZL6	KPCD2_HUMAN	protein kinase D2	334					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCTTGTCAGCCTCGCTGAAAT	0.627																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1000-1002)gaG>gaA		protein kinase D2							63.0	56.0	58.0					19																	47204175		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47204175C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1002G>A	19.37:g.47204175C>T						PRKD2_ENST00000291281.4_Silent_p.E334E|PRKD2_ENST00000601806.1_Silent_p.E177E|PRKD2_ENST00000600194.1_Silent_p.E177E|PRKD2_ENST00000595515.1_Silent_p.E334E	p.E334E	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	8	1479	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	334					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1002G>A	CCDS12689.1																																																																																				0.627	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		4	42	0	0	0	1	0	4	42				
ZNF644	84146	broad.mit.edu	37	1	91404618	91404618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91404618C>A	ENST00000370440.1	-	3	2510	c.2293G>T	c.(2293-2295)Gaa>Taa	p.E765*	ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E765*|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAACTAGCTTCTTCTTTTTTG	0.343																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2293-2295)Gaa>Taa		zinc finger protein 644							84.0	90.0	88.0					1																	91404618		2203	4300	6503	SO:0001587	stop_gained	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91404618C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2293G>T	1.37:g.91404618C>A	ENSP00000359469:p.Glu765*					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E765*|ZNF644_ENST00000467231.1_Intron	p.E765*			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	2510	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	765					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	37	c.2293G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	38	7.137870	0.98088	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	.	.	.	5.74	4.82	0.62117	.	0.357463	0.27961	N	0.017149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-10.8137	15.0487	0.71846	0.0:0.9311:0.0:0.0689	.	.	.	.	X	765;765;337	.	ENSP00000337008:E765X	E	-	1	0	ZNF644	91177206	0.702000	0.27816	0.708000	0.30435	0.998000	0.95712	1.861000	0.39438	1.392000	0.46585	0.655000	0.94253	GAA		0.343	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		24	41	1	0	1.36565e-18	1	1.85171e-18	24	41				
SNRK	54861	broad.mit.edu	37	3	43344729	43344729	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:43344729A>C	ENST00000296088.7	+	3	338	c.34A>C	c.(34-36)Att>Ctt	p.I12L	SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Missense_Mutation_p.I12L|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_Missense_Mutation_p.I12L	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGATGGAAAGATTGCTGGATT	0.398																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(34-36)Att>Ctt		SNF related kinase							123.0	118.0	120.0					3																	43344729		1845	4093	5938	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43344729A>C	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.34A>C	3.37:g.43344729A>C	ENSP00000296088:p.Ile12Leu					SNRK_ENST00000454177.1_Missense_Mutation_p.I12L|SNRK_ENST00000429705.2_Missense_Mutation_p.I12L|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_Intron	p.I12L	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	3	338	+			12						Missense_Mutation	SNP	ENST00000296088.7	37	c.34A>C	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036366	0.75617	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	D;D;D	0.81996	-1.56;-1.56;-1.56	5.8	5.8	0.92144	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	N	0.11789	0.175	0.80722	D	1	B;B	0.33964	0.033;0.434	B;B	0.37015	0.027;0.239	T	0.69038	-0.5251	10	0.10636	T	0.68	.	16.1334	0.81461	1.0:0.0:0.0:0.0	.	12;12	Q9NRH2-2;Q9NRH2	.;SNRK_HUMAN	L	12	ENSP00000401246:I12L;ENSP00000411375:I12L;ENSP00000296088:I12L	ENSP00000296088:I12L	I	+	1	0	SNRK	43319733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.205000	0.71048	0.533000	0.62120	ATT		0.398	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		9	63	0	0	0	1	0	9	63				
CBLB	868	broad.mit.edu	37	3	105586436	105586436	+	Splice_Site	SNP	C	C	T	rs55944080|rs587777935	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:105586436C>T	ENST00000264122.4	-	2	308		c.e2-1		CBLB_ENST00000403724.1_Splice_Site|CBLB_ENST00000394027.3_Splice_Site|CBLB_ENST00000405772.1_Splice_Site|CBLB_ENST00000545639.1_Splice_Site	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase						cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATTTTAGTTCTTTAAAAGGC	0.373			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.e2-1		Cbl proto-oncogene B, E3 ubiquitin protein ligase							43.0	43.0	43.0					3																	105586436		2203	4300	6503	SO:0001630	splice_region_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105586436C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.14-1G>A	3.37:g.105586436C>T						CBLB_ENST00000405772.1_Splice_Site|CBLB_ENST00000403724.1_Splice_Site|CBLB_ENST00000394027.3_Splice_Site|CBLB_ENST00000545639.1_Splice_Site		NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			2	308	-								A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Splice_Site	SNP	ENST00000264122.4	37		CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737128	0.49045	.	.	ENSG00000114423	ENST00000394027;ENST00000545639;ENST00000438603	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6935	0.40143	0.0:0.9047:0.0:0.0953	.	.	.	.	.	-1	.	.	.	-	.	.	CBLB	107069126	0.030000	0.19436	0.467000	0.27180	0.945000	0.59286	1.436000	0.34980	2.368000	0.80403	0.563000	0.77884	.		0.373	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662	Intron	11	27	0	0	0	1	0	11	27				
CD19	930	broad.mit.edu	37	16	28948597	28948597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:28948597G>T	ENST00000324662.3	+	9	1248	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	CD19_ENST00000567541.1_Nonsense_Mutation_p.E402*|CD19_ENST00000538922.1_Nonsense_Mutation_p.E402*			P15391	CD19_HUMAN	CD19 molecule	402					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCAGGCCCAGAAGAAGAGGA	0.622																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(1204-1206)Gaa>Taa		CD19 molecule							52.0	58.0	56.0					16																	28948597		2196	4300	6496	SO:0001587	stop_gained	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948597G>T		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1204G>T	16.37:g.28948597G>T	ENSP00000313419:p.Glu402*					CD19_ENST00000324662.3_Nonsense_Mutation_p.E402*|CD19_ENST00000567541.1_Nonsense_Mutation_p.E402*	p.E402*	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			9	1266	+			402					A0N0P9|F5H635|Q96S68|Q9BRD6	Nonsense_Mutation	SNP	ENST00000324662.3	37	c.1204G>T	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926262	0.73327	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	.	.	.	4.39	3.3	0.37823	.	0.409080	0.21102	N	0.080154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.0039	7.1539	0.25626	0.1575:0.0:0.8425:0.0	.	.	.	.	X	402;209;402;251	.	ENSP00000313419:E402X	E	+	1	0	CD19	28856098	0.972000	0.33761	0.866000	0.34008	0.176000	0.22953	1.559000	0.36320	0.810000	0.34279	0.462000	0.41574	GAA		0.622	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			3	18	1	0	0.00909568	1	0.00935351	3	18				
BOD1L1	259282	broad.mit.edu	37	4	13603706	13603706	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13603706G>A	ENST00000040738.5	-	10	4953	c.4818C>T	c.(4816-4818)ttC>ttT	p.F1606F		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1606						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGCTTGTGAGGAAGGTTTCAC	0.502																																						ENST00000040738.5																			0											c.(4816-4818)ttC>ttT		biorientation of chromosomes in cell division 1-like 1							73.0	71.0	72.0					4																	13603706		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13603706G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4818C>T	4.37:g.13603706G>A							p.F1606F	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	4953	-			1606					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.4818C>T	CCDS3411.2																																																																																				0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		21	41	0	0	0	1	0	21	41				
CCER1	196477	broad.mit.edu	37	12	91347382	91347382	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91347382T>G	ENST00000358859.2	-	1	1571	c.1138A>C	c.(1138-1140)Agc>Cgc	p.S380R	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	380																	AAAGTGCAGCTTATAAAGTTC	0.433																																						ENST00000358859.2																			0											c.(1138-1140)Agc>Cgc		coiled-coil glutamate-rich protein 1							106.0	111.0	109.0					12																	91347382		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347382T>G	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.1138A>C	12.37:g.91347382T>G	ENSP00000351727:p.Ser380Arg					CCER1_ENST00000548187.1_Intron	p.S380R	NM_152638.2	NP_689851.1					1	1571	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.1138A>C	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	T	6.659	0.490077	0.12702	.	.	ENSG00000197651	ENST00000358859	T	0.22945	1.93	5.41	0.398	0.16319	.	0.426217	0.17329	N	0.178195	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.24155	0.051	T	0.18935	-1.0321	10	0.72032	D	0.01	-11.0662	3.529	0.07770	0.1576:0.2586:0.0:0.5837	.	380	Q8TC90	CL012_HUMAN	R	380	ENSP00000351727:S380R	ENSP00000351727:S380R	S	-	1	0	C12orf12	89871513	0.185000	0.23213	0.005000	0.12908	0.009000	0.06853	0.188000	0.17018	-0.075000	0.12798	0.482000	0.46254	AGC		0.433	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		40	51	0	0	0	1	0	40	51				
BMS1P20	96610	broad.mit.edu	37	22	22658450	22658450	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22658450C>A	ENST00000426066.1	+	0	217					NR_027293.1				BMS1 pseudogene 20																		TTTTGATGATCTTAAAGGAGA	0.383																																						ENST00000426066.1																			0																																																			0							g.chr22:22658450C>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22658450C>A								NR_027293.1						0	217	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.383	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			21	39	1	0	2.50493e-22	1	3.48041e-22	21	39				
CHN1	1123	broad.mit.edu	37	2	175664856	175664856	+	Missense_Mutation	SNP	G	G	T	rs559753925	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175664856G>T	ENST00000409900.3	-	13	1681	c.1368C>A	c.(1366-1368)gaC>gaA	p.D456E	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.D272E|CHN1_ENST00000295497.7_Missense_Mutation_p.D331E|CHN1_ENST00000409156.3_Missense_Mutation_p.D430E	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	456	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			aaaataaaatGTCTTCGTTTT	0.358			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1366-1368)gaC>gaA		chimerin 1							42.0	37.0	39.0					2																	175664856		1830	4074	5904	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175664856G>T		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1368C>A	2.37:g.175664856G>T	ENSP00000386741:p.Asp456Glu					CHN1_ENST00000409597.1_Missense_Mutation_p.D272E|CHN1_ENST00000295497.7_Missense_Mutation_p.D331E|CHN1_ENST00000409156.3_Missense_Mutation_p.D430E|CHN1_ENST00000488080.1_5'UTR	p.D456E	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		13	1681	-			456			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1368C>A	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407550	0.42715	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.93	4.14	0.48551	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	L	0.48986	1.54	0.50313	D	0.999861	P;P;P	0.43578	0.811;0.811;0.562	B;B;B	0.42851	0.271;0.4;0.155	T	0.03175	-1.1064	10	0.26408	T	0.33	.	11.9917	0.53180	0.1394:0.0:0.8606:0.0	.	430;456;331	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	E	456;331;272;430	ENSP00000386741:D456E;ENSP00000295497:D331E;ENSP00000386469:D272E;ENSP00000386470:D430E	ENSP00000295497:D331E	D	-	3	2	CHN1	175373102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.552000	0.45828	0.846000	0.35142	0.655000	0.94253	GAC		0.358	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		5	14	1	0	0.0215528	1	0.0219788	5	14				
SEPHS1	22929	broad.mit.edu	37	10	13375827	13375827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:13375827C>A	ENST00000327347.5	-	5	925	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	SEPHS1_ENST00000545675.1_Nonsense_Mutation_p.E184*|SEPHS1_ENST00000537130.1_Nonsense_Mutation_p.E117*|SEPHS1_ENST00000378614.4_Nonsense_Mutation_p.E184*	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	184					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						ATGATAAATTCATTGGGTTGG	0.438																																						ENST00000327347.5																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(550-552)Gaa>Taa		selenophosphate synthetase 1							86.0	83.0	84.0					10																	13375827		2203	4300	6503	SO:0001587	stop_gained	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13375827C>A	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.550G>T	10.37:g.13375827C>A	ENSP00000367893:p.Glu184*					SEPHS1_ENST00000545675.1_Nonsense_Mutation_p.E184*|SEPHS1_ENST00000537130.1_Nonsense_Mutation_p.E117*|SEPHS1_ENST00000378614.4_Nonsense_Mutation_p.E184*	p.E184*	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN			5	925	-			184					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Nonsense_Mutation	SNP	ENST00000327347.5	37	c.550G>T	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	C	39	7.563265	0.98361	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000537130	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-25.2094	19.3079	0.94171	0.0:1.0:0.0:0.0	.	.	.	.	X	184;184;184;184;117	.	ENSP00000367887:E184X	E	-	1	0	SEPHS1	13415833	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.805000	0.86005	2.550000	0.86006	0.655000	0.94253	GAA		0.438	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		18	19	1	0	1.33834e-09	1	1.61283e-09	18	19				
PROS1	5627	broad.mit.edu	37	3	93605179	93605179	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93605179C>T	ENST00000394236.3	-	11	1640		c.e11+1		PROS1_ENST00000407433.1_Splice_Site	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGGATCATTACCGGTTTAATG	0.373																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.e11+1		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						92.0	97.0	95.0					3																	93605179		2203	4300	6503	SO:0001630	splice_region_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93605179C>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1323+1G>A	3.37:g.93605179C>T						PROS1_ENST00000407433.1_Splice_Site		NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			11	1640	-								A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Splice_Site	SNP	ENST00000394236.3	37		CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017652	0.35606	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	.	.	.	3.54	3.54	0.40534	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2952	0.73898	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PROS1	95087869	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	7.011000	0.76359	1.805000	0.52779	0.655000	0.94253	.		0.373	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	Intron	12	40	0	0	0	1	0	12	40				
NEK2	4751	broad.mit.edu	37	1	211847747	211847747	+	Missense_Mutation	SNP	G	G	A	rs368396189		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:211847747G>A	ENST00000366999.4	-	2	343	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	RP11-122M14.1_ENST00000415202.1_RNA|NEK2_ENST00000366998.3_Missense_Mutation_p.R69C|NEK2_ENST00000540251.1_Missense_Mutation_p.R26C	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TCATAGTAACGAACGATGTTT	0.403																																						ENST00000366999.4																			0				breast(2)|stomach(1)	3						c.(205-207)Cgt>Tgt		NIMA-related kinase 2							112.0	95.0	101.0					1																	211847747		2203	4300	6503	SO:0001583	missense	4751				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	g.chr1:211847747G>A	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.205C>T	1.37:g.211847747G>A	ENSP00000355966:p.Arg69Cys					NEK2_ENST00000366998.3_Missense_Mutation_p.R69C|NEK2_ENST00000540251.1_Missense_Mutation_p.R26C	p.R69C	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	2	343	-			69			Protein kinase.		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	ENST00000366999.4	37	c.205C>T	CCDS1500.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965205	0.74131	.	.	ENSG00000117650	ENST00000366999;ENST00000540251;ENST00000366998	T;T;T	0.46063	1.65;0.88;1.65	4.41	2.33	0.28932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110329	0.64402	D	0.000009	T	0.64627	0.2615	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.996	D;D;D	0.66716	0.943;0.946;0.91	T	0.72371	-0.4314	10	0.72032	D	0.01	.	13.4982	0.61438	0.0:0.0:0.7207:0.2793	.	69;69;69	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	C	69;26;69	ENSP00000355966:R69C;ENSP00000440237:R26C;ENSP00000355965:R69C	ENSP00000355965:R69C	R	-	1	0	NEK2	209914370	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.623000	0.54224	0.937000	0.37394	0.563000	0.77884	CGT		0.403	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		12	21	0	0	0	1	0	12	21				
IL3RA	3563	broad.mit.edu	37	X	1460715	1460715	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1460715G>A	ENST00000331035.4	+	2	406	c.57G>A	c.(55-57)acG>acA	p.T19T	IL3RA_ENST00000381469.2_Silent_p.T19T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	19					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCCTGCAAACGAAGGAAGGTA	0.587																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(55-57)acG>acA		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						190.0	163.0	172.0					X																	1460715		2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1460715G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.57G>A	X.37:g.1460715G>A						IL3RA_ENST00000381469.2_Silent_p.T19T	p.T19T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			2	406	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	19					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.57G>A	CCDS14113.1																																																																																				0.587	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			39	113	0	0	0	1	0	39	113				
GRHL1	29841	broad.mit.edu	37	2	10104055	10104055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10104055C>T	ENST00000324907.9	+	6	923	c.787C>T	c.(787-789)Cga>Tga	p.R263*	GRHL1_ENST00000324883.5_Nonsense_Mutation_p.R74*|GRHL1_ENST00000405379.2_Nonsense_Mutation_p.R263*	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	263					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AAAATCACTTCGACAGAAGCC	0.438																																						ENST00000324907.9																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(787-789)Cga>Tga		grainyhead-like 1 (Drosophila)							110.0	100.0	104.0					2																	10104055		2203	4300	6503	SO:0001587	stop_gained	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10104055C>T	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.787C>T	2.37:g.10104055C>T	ENSP00000324693:p.Arg263*					GRHL1_ENST00000324883.5_Nonsense_Mutation_p.R74*|GRHL1_ENST00000405379.2_Nonsense_Mutation_p.R263*	p.R263*	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	6	923	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		263					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Nonsense_Mutation	SNP	ENST00000324907.9	37	c.787C>T	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	35	5.437854	0.96168	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0268	0.64590	0.1511:0.8489:0.0:0.0	.	.	.	.	X	263;74;263	.	ENSP00000324494:R74X	R	+	1	2	GRHL1	10021506	0.998000	0.40836	0.802000	0.32245	0.897000	0.52465	3.732000	0.55021	2.603000	0.88011	0.655000	0.94253	CGA		0.438	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		11	31	0	0	0	1	0	11	31				
FANK1	92565	broad.mit.edu	37	10	127668792	127668792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127668792G>T	ENST00000368693.1	+	2	180	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	FANK1_ENST00000368689.1_Nonsense_Mutation_p.E20*|FANK1_ENST00000368695.1_Nonsense_Mutation_p.E20*|FANK1_ENST00000449042.2_Nonsense_Mutation_p.E20*			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	26	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TCACAGCATTGAATTATACTG	0.453																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(58-60)Gaa>Taa		fibronectin type III and ankyrin repeat domains 1							108.0	101.0	104.0					10																	127668792		2203	4300	6503	SO:0001587	stop_gained	92565					cytoplasm|nucleus		g.chr10:127668792G>T	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.76G>T	10.37:g.127668792G>T	ENSP00000357682:p.Glu26*					FANK1_ENST00000449042.2_Nonsense_Mutation_p.E20*|FANK1_ENST00000368689.1_Nonsense_Mutation_p.E20*|FANK1_ENST00000368693.1_Nonsense_Mutation_p.E26*	p.E20*	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			2	180	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	26			Fibronectin type-III.		Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	c.58G>T	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236895	0.79800	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000449042;ENST00000417114;ENST00000445510;ENST00000368691;ENST00000368689;ENST00000368692	.	.	.	4.9	3.99	0.46301	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-35.8904	7.9956	0.30267	0.09:0.1643:0.7457:0.0	.	.	.	.	X	20;26;20;20;20;20;20;26	.	ENSP00000357678:E20X	E	+	1	0	FANK1	127658782	0.998000	0.40836	0.368000	0.25939	0.793000	0.44817	3.053000	0.49901	2.255000	0.74692	0.563000	0.77884	GAA		0.453	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		19	41	1	0	3.99206e-14	1	5.17458e-14	19	41				
CDH8	1006	broad.mit.edu	37	16	61858924	61858924	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:61858924A>G	ENST00000577390.1	-	5	1781	c.827T>C	c.(826-828)tTt>tCt	p.F276S	CDH8_ENST00000577730.1_Missense_Mutation_p.F276S|CDH8_ENST00000584337.1_Missense_Mutation_p.F276S|CDH8_ENST00000299345.6_Missense_Mutation_p.F276S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	276	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACTCTGTGCAAATTTTGGAGG	0.373																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(826-828)tTt>tCt		cadherin 8, type 2							94.0	90.0	91.0					16																	61858924		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61858924A>G	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.827T>C	16.37:g.61858924A>G	ENSP00000462701:p.Phe276Ser					CDH8_ENST00000577730.1_Missense_Mutation_p.F276S|CDH8_ENST00000584337.1_Missense_Mutation_p.F276S|CDH8_ENST00000299345.6_Missense_Mutation_p.F276S	p.F276S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	5	1781	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	276			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.827T>C	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908190	0.92107	.	.	ENSG00000150394	ENST00000299345	T	0.03358	3.96	6.02	6.02	0.97574	Cadherin (3);Cadherin-like (1);	0.090275	0.85682	D	0.000000	T	0.34454	0.0898	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.957	T	0.58880	-0.7558	10	0.87932	D	0	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	92;276	Q3LID3;P55286	.;CADH8_HUMAN	S	276	ENSP00000299345:F276S	ENSP00000299345:F276S	F	-	2	0	CDH8	60416425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.281000	0.95811	2.304000	0.77564	0.528000	0.53228	TTT		0.373	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		14	28	0	0	0	1	0	14	28				
DARS2	55157	broad.mit.edu	37	1	173794441	173794441	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173794441T>C	ENST00000361951.4	+	1	801	c.74T>C	c.(73-75)aTc>aCc	p.I25T	DARS2_ENST00000239457.5_5'UTR|CENPL_ENST00000367710.3_5'Flank|CENPL_ENST00000345664.6_5'Flank|CENPL_ENST00000495275.1_5'Flank|CENPL_ENST00000356198.2_5'Flank	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	25					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ACCCAACCGATCTGGGGTTCT	0.473																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.(73-75)aTc>aCc		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						102.0	104.0	103.0					1																	173794441		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173794441T>C	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.74T>C	1.37:g.173794441T>C	ENSP00000355086:p.Ile25Thr					DARS2_ENST00000239457.5_5'UTR	p.I25T	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			1	801	+			25						Missense_Mutation	SNP	ENST00000361951.4	37	c.74T>C	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697772	0.30142	.	.	ENSG00000117593	ENST00000361951	D	0.83992	-1.79	5.07	3.93	0.45458	.	0.772050	0.11622	N	0.545643	T	0.57666	0.2069	L	0.34521	1.04	0.25330	N	0.989047	B	0.17038	0.02	B	0.12156	0.007	T	0.50955	-0.8766	10	0.37606	T	0.19	0.1797	8.9837	0.35980	0.0:0.0:0.1871:0.8129	.	25	Q6PI48	SYDM_HUMAN	T	25	ENSP00000355086:I25T	ENSP00000355086:I25T	I	+	2	0	DARS2	172061064	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.391000	0.20784	0.757000	0.33036	0.459000	0.35465	ATC		0.473	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		19	51	0	0	0	1	0	19	51				
TULP3	7289	broad.mit.edu	37	12	3031488	3031488	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:3031488C>T	ENST00000448120.2	+	4	365	c.314C>T	c.(313-315)tCc>tTc	p.S105F	TULP3_ENST00000397132.2_Missense_Mutation_p.S105F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	105					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCAGTAAGCTCCTCTGTTGTG	0.443																																						ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(313-315)tCc>tTc		tubby like protein 3							163.0	147.0	152.0					12																	3031488		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3031488C>T	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.314C>T	12.37:g.3031488C>T	ENSP00000410051:p.Ser105Phe					TULP3_ENST00000397132.2_Missense_Mutation_p.S105F	p.S105F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		4	365	+			105					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.314C>T	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406782	0.62399	.	.	ENSG00000078246	ENST00000535226;ENST00000228245;ENST00000448120;ENST00000397132	D;D	0.92699	-3.06;-3.09	5.29	5.29	0.74685	.	0.495083	0.23684	N	0.045596	D	0.94984	0.8377	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.87578	0.809;0.998	D	0.95087	0.8218	10	0.62326	D	0.03	-9.7591	15.6609	0.77188	0.0:1.0:0.0:0.0	.	105;105	O75386;F8WBZ9	TULP3_HUMAN;.	F	86;105;105;105	ENSP00000410051:S105F;ENSP00000380321:S105F	ENSP00000228245:S105F	S	+	2	0	TULP3	2901749	0.961000	0.32948	0.013000	0.15412	0.015000	0.08874	4.989000	0.63870	2.466000	0.83321	0.561000	0.74099	TCC		0.443	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		33	59	0	0	0	1	0	33	59				
COL6A3	1293	broad.mit.edu	37	2	238277715	238277715	+	Missense_Mutation	SNP	C	C	T	rs138676768		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238277715C>T	ENST00000295550.4	-	10	4843	c.4391G>A	c.(4390-4392)cGa>cAa	p.R1464Q	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1264Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1263Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1258Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R857Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1258Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1464	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGAGTCTTCGAACAATCCT	0.478																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4390-4392)cGa>cAa		collagen, type VI, alpha 3		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	66.0	62.0	64.0		3773,2570,4391	0.4	0.0	2	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	COL6A3	NM_057167.3,NM_057166.4,NM_004369.3	43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	1258/2972,857/2571,1464/3178	238277715	2,13004	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277715C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4391G>A	2.37:g.238277715C>T	ENSP00000295550:p.Arg1464Gln					COL6A3_ENST00000353578.4_Missense_Mutation_p.R1258Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1263Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R857Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1264Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1258Q	p.R1464Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4843	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1464			Nonhelical region.|VWFA 8.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4391G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	4.608	0.112905	0.08831	0.0	2.33E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.29	0.387	0.16259	von Willebrand factor, type A (3);	0.438446	0.19072	N	0.123464	T	0.50222	0.1603	N	0.11364	0.135	0.09310	N	1	P;P;B	0.42248	0.774;0.576;0.002	B;B;B	0.31495	0.131;0.045;0.002	T	0.47195	-0.9136	10	0.22706	T	0.39	.	9.9841	0.41830	0.0:0.4067:0.0:0.5933	.	857;1258;1464	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	Q	1464;1263;1258;857;1258;1264	ENSP00000295550:R1464Q;ENSP00000315609:R1263Q;ENSP00000315873:R1258Q;ENSP00000418285:R857Q;ENSP00000386844:R1258Q;ENSP00000295546:R1264Q	ENSP00000295550:R1464Q	R	-	2	0	COL6A3	237942454	0.180000	0.23148	0.000000	0.03702	0.002000	0.02628	1.329000	0.33770	-0.221000	0.09973	-0.157000	0.13467	CGA		0.478	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		7	30	0	0	0	1	0	7	30				
PLA1A	51365	broad.mit.edu	37	3	119316770	119316770	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119316770G>T	ENST00000273371.4	+	1	82	c.10G>T	c.(10-12)Ggt>Tgt	p.G4C	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_5'Flank|PLA1A_ENST00000495992.1_Missense_Mutation_p.G4C	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	4					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGCCCCCAGGTCCCTGGGA	0.542																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(10-12)Ggt>Tgt		phospholipase A1 member A							35.0	34.0	34.0					3																	119316770		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119316770G>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.10G>T	3.37:g.119316770G>T	ENSP00000273371:p.Gly4Cys					PLA1A_ENST00000495992.1_Missense_Mutation_p.G4C|PLA1A_ENST00000488919.1_5'UTR	p.G4C	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			1	82	+			4					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.10G>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324712	0.60634	.	.	ENSG00000144837	ENST00000273371;ENST00000495992	D;D	0.90444	-2.67;-2.67	5.18	2.22	0.28083	.	.	.	.	.	D	0.88470	0.6445	L	0.29908	0.895	0.09310	N	1	D;D	0.63046	0.992;0.986	P;P	0.55999	0.789;0.62	T	0.78763	-0.2077	9	0.87932	D	0	-2.9765	5.9929	0.19476	0.3246:0.0:0.6754:0.0	.	4;4	Q53H76-3;Q53H76	.;PLA1A_HUMAN	C	4	ENSP00000273371:G4C;ENSP00000417326:G4C	ENSP00000273371:G4C	G	+	1	0	PLA1A	120799460	0.008000	0.16893	0.004000	0.12327	0.322000	0.28314	0.806000	0.27126	0.775000	0.33450	0.655000	0.94253	GGT		0.542	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			4	14	1	0	0.00024832	1	0.000265255	4	14				
USP24	23358	broad.mit.edu	37	1	55567292	55567292	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55567292A>G	ENST00000294383.6	-	43	5109	c.5110T>C	c.(5110-5112)Ttc>Ctc	p.F1704L	USP24_ENST00000407756.1_Missense_Mutation_p.F1544L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1704	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGCTGCTGGAAGACTGCATTC	0.443																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(5110-5112)Ttc>Ctc		ubiquitin specific peptidase 24							61.0	60.0	60.0					1																	55567292		1951	4139	6090	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55567292A>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5110T>C	1.37:g.55567292A>G	ENSP00000294383:p.Phe1704Leu					USP24_ENST00000407756.1_Missense_Mutation_p.F1544L	p.F1704L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			43	5109	-			1704					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.5110T>C	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	14.09	2.430651	0.43122	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.01804	4.63;4.63	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.00524	0.0017	N	0.00052	-2.395	0.58432	D	0.999996	B	0.16802	0.019	B	0.12156	0.007	T	0.52457	-0.8573	10	0.02654	T	1	.	16.1269	0.81402	1.0:0.0:0.0:0.0	.	1544	B7WPF4	.	L	1704;1544	ENSP00000294383:F1704L;ENSP00000385700:F1544L	ENSP00000294383:F1704L	F	-	1	0	USP24	55339880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.910000	0.92685	2.285000	0.76669	0.477000	0.44152	TTC		0.443	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			4	17	0	0	0	1	0	4	17				
MXRA5	25878	broad.mit.edu	37	X	3238669	3238669	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3238669T>G	ENST00000217939.6	-	5	5211	c.5057A>C	c.(5056-5058)aAg>aCg	p.K1686T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1686						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCAGTAAACTTACTAGGAAT	0.438																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(5056-5058)aAg>aCg		matrix-remodelling associated 5							163.0	155.0	158.0					X																	3238669		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238669T>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5057A>C	X.37:g.3238669T>G	ENSP00000217939:p.Lys1686Thr						p.K1686T	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	5211	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1686					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5057A>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	3.933	-0.015783	0.07681	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63913	-0.07	3.2	-6.39	0.01951	.	1.464230	0.05024	N	0.473348	T	0.36276	0.0961	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.25047	-1.0143	10	0.22706	T	0.39	.	8.7447	0.34578	0.0:0.3738:0.4259:0.2004	.	1686	Q9NR99	MXRA5_HUMAN	T	1686	ENSP00000217939:K1686T	ENSP00000217939:K1686T	K	-	2	0	MXRA5	3248669	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.152000	0.10159	-1.952000	0.01027	0.352000	0.21897	AAG		0.438	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		82	141	0	0	0	1	0	82	141				
GPR152	390212	broad.mit.edu	37	11	67219701	67219701	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67219701G>A	ENST00000312457.2	-	1	499	c.495C>T	c.(493-495)ccC>ccT	p.P165P	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGACCAGCCAGGGCACGCTGA	0.677																																					Pancreas(102;800 1581 2723 7382 33622)	ENST00000312457.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(493-495)ccC>ccT		G protein-coupled receptor 152							47.0	56.0	53.0					11																	67219701		2200	4295	6495	SO:0001819	synonymous_variant	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219701G>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.495C>T	11.37:g.67219701G>A							p.P165P	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	499	-			165					Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	c.495C>T	CCDS8165.1																																																																																				0.677	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			14	96	0	0	0	1	0	14	96				
CYP11B1	1584	broad.mit.edu	37	8	143957711	143957711	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:143957711C>T	ENST00000292427.4	-	5	932	c.900G>A	c.(898-900)tcG>tcA	p.S300S	CYP11B1_ENST00000517471.1_Silent_p.S300S|CYP11B1_ENST00000377675.3_Silent_p.S371S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	300					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGGCATCTGGCGACAGTTCCG	0.582									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(898-900)tcG>tcA		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						132.0	111.0	118.0					8																	143957711		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957711C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.900G>A	8.37:g.143957711C>T						CYP11B1_ENST00000377675.3_Silent_p.S371S|CYP11B1_ENST00000517471.1_Silent_p.S300S	p.S300S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			5	932	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		300					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.900G>A	CCDS6392.1																																																																																				0.582	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			12	35	0	0	0	1	0	12	35				
SAMD4A	23034	broad.mit.edu	37	14	55168871	55168871	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55168871C>T	ENST00000554335.1	+	3	951	c.288C>T	c.(286-288)gaC>gaT	p.D96D	SAMD4A_ENST00000392067.3_Silent_p.D96D|SAMD4A_ENST00000357634.3_Silent_p.D95D|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000251091.5_Silent_p.D96D			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	96					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GAAACCTCGACGCGAAAGTAG	0.458																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(286-288)gaC>gaT		sterile alpha motif domain containing 4A							89.0	89.0	89.0					14																	55168871		2203	4300	6503	SO:0001819	synonymous_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55168871C>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.288C>T	14.37:g.55168871C>T						SAMD4A_ENST00000554335.1_Silent_p.D96D|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Silent_p.D95D|SAMD4A_ENST00000392067.3_Silent_p.D96D	p.D96D	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			2	593	+			96					A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	c.288C>T	CCDS32084.2																																																																																				0.458	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		23	45	0	0	0	1	0	23	45				
PLEC	5339	broad.mit.edu	37	8	144994413	144994413	+	Nonsense_Mutation	SNP	G	G	T	rs201460864		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144994413G>T	ENST00000322810.4	-	32	10156	c.9987C>A	c.(9985-9987)taC>taA	p.Y3329*	PLEC_ENST00000527096.1_Nonsense_Mutation_p.Y3215*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Y3192*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Y3219*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Y3160*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Y3192*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Y3196*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Y3170*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Y3178*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3329	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAGCTCGCCGTAGGTGGCCG	0.706																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9985-9987)taC>taA		plectin							7.0	9.0	8.0					8																	144994413		1930	4078	6008	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994413G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9987C>A	8.37:g.144994413G>T	ENSP00000323856:p.Tyr3329*					PLEC_ENST00000354589.3_Nonsense_Mutation_p.Y3192*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Y3170*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Y3196*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Y3219*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Y3215*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Y3178*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Y3160*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Y3192*	p.Y3329*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	10156	-			3329			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.9987C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	50	16.387205	0.99862	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.01	-6.13	0.02118	.	0.000000	0.56097	U	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0819	0.36556	0.7408:0.0:0.1482:0.111	.	.	.	.	X	3192;3196;3192;3160;3329;3170;3178;3219;3215	.	ENSP00000323856:Y3329X	Y	-	3	2	PLEC	145066401	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.734000	0.04893	-1.382000	0.02109	-0.515000	0.04445	TAC		0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	17	1	0	0.000274275	1	0.000292037	8	17				
NR1H4	9971	broad.mit.edu	37	12	100934521	100934521	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100934521C>T	ENST00000551379.1	+	7	1061	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	NR1H4_ENST00000188403.7_Missense_Mutation_p.R341C|NR1H4_ENST00000548884.1_Missense_Mutation_p.R331C|NR1H4_ENST00000549996.1_Missense_Mutation_p.R284C|NR1H4_ENST00000392986.3_Missense_Mutation_p.R335C			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	345	Agonist binding. {ECO:0000250}.|Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TATGTTCCTTCGTTCAGCTGA	0.388																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(991-993)Cgt>Tgt		nuclear receptor subfamily 1, group H, member 4							197.0	183.0	188.0					12																	100934521		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100934521C>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1033C>T	12.37:g.100934521C>T	ENSP00000447149:p.Arg345Cys					NR1H4_ENST00000188403.7_Missense_Mutation_p.R341C|NR1H4_ENST00000392986.3_Missense_Mutation_p.R335C|NR1H4_ENST00000551379.1_Missense_Mutation_p.R345C|NR1H4_ENST00000549996.1_Missense_Mutation_p.R284C	p.R331C	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN			9	1532	+			345			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.991C>T	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213805	0.58452	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	4.91	4.02	0.46733	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.049533	0.85682	N	0.000000	D	0.97835	0.9289	M	0.80847	2.515	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.938;1.0;1.0;0.996	D;B;D;D;P	0.91635	0.999;0.437;0.999;0.999;0.79	D	0.98183	1.0458	10	0.72032	D	0.01	.	13.475	0.61303	0.0:0.924:0.0:0.076	.	284;345;341;335;331	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	C	331;335;284;345;341	ENSP00000448506:R331C;ENSP00000376712:R335C;ENSP00000448978:R284C;ENSP00000447149:R345C;ENSP00000188403:R341C	ENSP00000188403:R341C	R	+	1	0	NR1H4	99458652	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.758000	0.68776	1.061000	0.40601	-0.203000	0.12734	CGT		0.388	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		36	49	0	0	0	1	0	36	49				
ZMAT1	84460	broad.mit.edu	37	X	101139144	101139144	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101139144C>A	ENST00000372782.3	-	7	1302	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	ZMAT1_ENST00000540921.1_Missense_Mutation_p.D419Y|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.D248Y	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	419						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ACAGAGCTATCTCCTATCTTT	0.403																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1255-1257)Gat>Tat		zinc finger, matrin-type 1							252.0	235.0	241.0					X																	101139144		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139144C>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1255G>T	X.37:g.101139144C>A	ENSP00000361868:p.Asp419Tyr					ZMAT1_ENST00000458570.1_Missense_Mutation_p.D248Y|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.D419Y	p.D419Y	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			7	1302	-			248					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1255G>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	7.956	0.745868	0.15710	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.27256	2.32;2.32;1.68	4.59	-2.67	0.06059	.	1.057890	0.07349	N	0.882099	T	0.34019	0.0883	M	0.65498	2.005	0.09310	N	1	D	0.62365	0.991	P	0.55161	0.77	T	0.26258	-1.0108	10	0.72032	D	0.01	0.4489	2.1428	0.03779	0.1239:0.3509:0.1199:0.4053	.	419	Q5H9K5	ZMAT1_HUMAN	Y	419;419;248	ENSP00000361868:D419Y;ENSP00000437529:D419Y;ENSP00000413044:D248Y	ENSP00000361868:D419Y	D	-	1	0	ZMAT1	101025800	0.428000	0.25522	0.000000	0.03702	0.010000	0.07245	0.959000	0.29240	-0.857000	0.04115	-1.021000	0.02439	GAT		0.403	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			17	210	1	0	2.48551e-13	1	3.17925e-13	17	210				
PCDHA9	9752	broad.mit.edu	37	5	140230511	140230511	+	Intron	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140230511T>C	ENST00000532602.1	+	1	3427				PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.F811L|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ttatataattttttttCTTGA	0.353																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(2431-2433)Ttt>Ctt									32.0	35.0	34.0					5																	140230511		1956	4135	6091	SO:0001627	intron_variant	0							g.chr5:140230511T>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+37T>C	5.37:g.140230511T>C						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.F811L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3155	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2431T>C	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.353411	0.24512	.	.	ENSG00000204961	ENST00000378122	T	0.49720	0.77	3.38	-1.09	0.09904	.	.	.	.	.	T	0.16085	0.0387	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.24977	-1.0145	8	0.02654	T	1	.	1.8981	0.03261	0.1539:0.0973:0.3512:0.3976	.	811	Q9Y5H5-2	.	L	811	ENSP00000367362:F811L	ENSP00000367362:F811L	F	+	1	0	PCDHA9	140210695	0.002000	0.14202	0.000000	0.03702	0.155000	0.21991	0.524000	0.22940	-0.301000	0.08882	0.358000	0.22013	TTT		0.353	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		46	64	0	0	0	1	0	46	64				
DNAH11	8701	broad.mit.edu	37	7	21646328	21646328	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21646328A>C	ENST00000409508.3	+	20	3860	c.3829A>C	c.(3829-3831)Aat>Cat	p.N1277H	DNAH11_ENST00000328843.6_Missense_Mutation_p.N1277H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1277	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAATGCAGAAAATCCATACAC	0.338									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3829-3831)Aat>Cat		dynein, axonemal, heavy chain 11							68.0	66.0	67.0					7																	21646328		1842	4108	5950	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21646328A>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3829A>C	7.37:g.21646328A>C	ENSP00000475939:p.Asn1277His					DNAH11_ENST00000409508.3_Missense_Mutation_p.N1277H	p.N1277H			Q96DT5	DYH11_HUMAN			20	3860	+			1277			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3829A>C		.	.	.	.	.	.	.	.	.	.	A	12.69	2.012591	0.35511	.	.	ENSG00000105877	ENST00000328843	T	0.24908	1.83	5.46	1.49	0.22878	.	0.427068	0.26654	N	0.023184	T	0.23688	0.0573	.	.	.	0.24352	N	0.994914	D	0.56521	0.976	P	0.47744	0.556	T	0.08249	-1.0731	9	0.44086	T	0.13	.	6.007	0.19551	0.6764:0.0:0.0708:0.2529	.	1277	Q96DT5	DYH11_HUMAN	H	1277	ENSP00000330671:N1277H	ENSP00000330671:N1277H	N	+	1	0	DNAH11	21612853	0.995000	0.38212	0.902000	0.35471	0.955000	0.61496	1.327000	0.33746	0.344000	0.23847	-0.290000	0.09829	AAT		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	9	0	0	0	1	0	4	9				
TRBV4-1	28617	broad.mit.edu	37	7	142013066	142013066	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142013066C>A	ENST00000390357.3	+	0	60									T cell receptor beta variable 4-1																		CTGTGCGGTTCTCTGTCTCCT	0.592																																						ENST00000390357.3																			0																				85.0	92.0	90.0					7																	142013066		2001	4159	6160			0							g.chr7:142013066C>A	U07977		7q34	2012-02-07			ENSG00000211710	ENSG00000211710		"""T cell receptors / TRB locus"""	12215	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV41, TCRBV4S1, TCRBV7S1A1N2T, BV07S1J2.7			OTTHUMG00000158522		7.37:g.142013066C>A														0	60	+									RNA	SNP	ENST00000390357.3	37																																																																																						0.592	TRBV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351228.2	NG_001333		21	37	1	0	1.96292e-10	1	2.40731e-10	21	37				
SLC6A9	6536	broad.mit.edu	37	1	44474151	44474151	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:44474151T>C	ENST00000360584.2	-	5	874	c.683A>G	c.(682-684)gAc>gGc	p.D228G	SLC6A9_ENST00000357730.2_Missense_Mutation_p.D174G|SLC6A9_ENST00000372306.3_Missense_Mutation_p.D155G|SLC6A9_ENST00000475075.2_Missense_Mutation_p.D44G|SLC6A9_ENST00000372307.3_Missense_Mutation_p.D90G|SLC6A9_ENST00000372310.3_Missense_Mutation_p.D155G|SLC6A9_ENST00000492434.2_5'Flank|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D90G	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	228					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACCGGCGCAGTCATGCGTGTT	0.592																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(463-465)gAc>gGc		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						144.0	125.0	132.0					1																	44474151		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474151T>C	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.683A>G	1.37:g.44474151T>C	ENSP00000353791:p.Asp228Gly					SLC6A9_ENST00000357730.2_Missense_Mutation_p.D174G|SLC6A9_ENST00000372307.3_Missense_Mutation_p.D90G|SLC6A9_ENST00000360584.2_Missense_Mutation_p.D228G|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D90G|SLC6A9_ENST00000372306.3_Missense_Mutation_p.D155G|SLC6A9_ENST00000475075.2_Missense_Mutation_p.D44G	p.D155G	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			5	629	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	228					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.464A>G	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	T	8.402	0.842250	0.16963	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.73	5.73	0.89815	.	0.091306	0.85682	D	0.000000	T	0.71921	0.3397	L	0.27975	0.815	0.80722	D	1	P;B;B;B;B;P	0.48230	0.846;0.005;0.049;0.005;0.009;0.907	B;B;B;B;B;P	0.51297	0.32;0.012;0.051;0.008;0.012;0.665	T	0.70317	-0.4905	10	0.29301	T	0.29	.	16.0745	0.80960	0.0:0.0:0.0:1.0	.	159;155;90;155;174;228	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	G	90;155;155;44;228;174;90	ENSP00000361381:D90G;ENSP00000361380:D155G;ENSP00000361384:D155G;ENSP00000434460:D44G;ENSP00000353791:D228G;ENSP00000350362:D174G;ENSP00000442523:D90G	ENSP00000350362:D174G	D	-	2	0	SLC6A9	44246738	1.000000	0.71417	0.996000	0.52242	0.034000	0.12701	4.057000	0.57455	2.201000	0.70794	0.529000	0.55759	GAC		0.592	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		38	67	0	0	0	1	0	38	67				
NME5	8382	broad.mit.edu	37	5	137454535	137454535	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137454535A>C	ENST00000265191.2	-	5	576	c.527T>G	c.(526-528)cTt>cGt	p.L176R	RNU6-460P_ENST00000391158.1_RNA	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	176					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGCTTACAAAGCTCTGTGAG	0.398																																						ENST00000265191.2																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(526-528)cTt>cGt		NME/NM23 family member 5							70.0	70.0	70.0					5																	137454535		2203	4300	6503	SO:0001583	missense	8382				anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding	g.chr5:137454535A>C	Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.527T>G	5.37:g.137454535A>C	ENSP00000265191:p.Leu176Arg						p.L176R	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	576	-			176					B2R5G7	Missense_Mutation	SNP	ENST00000265191.2	37	c.527T>G	CCDS4197.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.417935	0.83449	.	.	ENSG00000112981	ENST00000265191	T	0.61742	0.08	5.82	5.82	0.92795	Dpy-30 motif (1);	0.063133	0.64402	D	0.000005	D	0.83580	0.5285	H	0.96269	3.795	0.51767	D	0.999939	D	0.89917	1.0	D	0.79784	0.993	D	0.88908	0.3357	10	0.87932	D	0	.	15.843	0.78864	1.0:0.0:0.0:0.0	.	176	P56597	NDK5_HUMAN	R	176	ENSP00000265191:L176R	ENSP00000265191:L176R	L	-	2	0	NME5	137482434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.663000	0.83820	2.218000	0.71995	0.482000	0.46254	CTT		0.398	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551		8	16	0	0	0	1	0	8	16				
TXLNB	167838	broad.mit.edu	37	6	139581502	139581502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139581502C>A	ENST00000358430.3	-	6	1187	c.955G>T	c.(955-957)Gaa>Taa	p.E319*		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	319						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTCATCATTTCTTGGGCCTGC	0.408																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(955-957)Gaa>Taa		taxilin beta							117.0	102.0	107.0					6																	139581502		2203	4300	6503	SO:0001587	stop_gained	167838					cytoplasm		g.chr6:139581502C>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.955G>T	6.37:g.139581502C>A	ENSP00000351206:p.Glu319*						p.E319*	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	6	1187	-			319					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Nonsense_Mutation	SNP	ENST00000358430.3	37	c.955G>T	CCDS34545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.150150|8.150150	0.98678|0.98678	.|.	.|.	ENSG00000164440|ENSG00000164440	ENST00000358430|ENST00000367652	.|.	.|.	.|.	5.64|5.64	4.77|4.77	0.60923|0.60923	.|.	0.184078|.	0.56097|.	D|.	0.000025|.	.|T	.|0.53899	.|0.1825	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57254	.|-0.7843	.|3	.|.	.|.	.|.	-9.8481|-9.8481	14.5108|14.5108	0.67787|0.67787	0.0:0.9296:0.0:0.0704|0.0:0.9296:0.0:0.0704	.|.	.|.	.|.	.|.	X|I	319|31	.|.	.|.	E|R	-|-	1|2	0|0	TXLNB|TXLNB	139623195|139623195	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.960000|0.960000	0.62799|0.62799	2.671000|2.671000	0.46842|0.46842	1.408000|1.408000	0.46895|0.46895	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.408	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		12	25	1	0	7.03913e-09	1	8.36985e-09	12	25				
FAM183B	340286	broad.mit.edu	37	7	38725348	38725348	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:38725348C>A	ENST00000409072.3	-	2	1192	c.258G>T	c.(256-258)caG>caT	p.Q86H				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	86										endometrium(1)|lung(7)	8						GGTTTTCAGTCTGTGCCTCCG	0.547																																						ENST00000409072.3																			0				endometrium(1)|lung(7)	8						c.(256-258)caG>caT		family with sequence similarity 183, member B							135.0	136.0	136.0					7																	38725348		1950	4139	6089	SO:0001583	missense	340286							g.chr7:38725348C>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.258G>T	7.37:g.38725348C>A	ENSP00000386657:p.Gln86His						p.Q86H							2	1192	-								A4D1Y1	Missense_Mutation	SNP	ENST00000409072.3	37	c.258G>T		.	.	.	.	.	.	.	.	.	.	C	9.369	1.070000	0.20147	.	.	ENSG00000164556	ENST00000409072	.	.	.	1.16	0.0661	0.14360	.	0.072525	0.53938	D	0.000044	T	0.40094	0.1103	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39981	-0.9587	6	0.87932	D	0	.	6.2629	0.20910	0.0:0.7771:0.0:0.2229	.	.	.	.	H	86	.	ENSP00000386657:Q86H	Q	-	3	2	FAM183B	38691873	0.996000	0.38824	0.002000	0.10522	0.002000	0.02628	-0.207000	0.09384	-1.092000	0.03062	-1.119000	0.02030	CAG		0.547	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282		15	147	1	0	8.60227e-14	1	1.10942e-13	15	147				
PLP1	5354	broad.mit.edu	37	X	103040584	103040584	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040584C>A	ENST00000303958.2	+	2	224	c.78C>A	c.(76-78)ttC>ttA	p.F26L	PLP1_ENST00000361621.2_Missense_Mutation_p.F26L|PLP1_ENST00000418604.1_Missense_Mutation_p.F26L	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	26					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GATTGTGTTTCTTTGGGGTGG	0.502																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(76-78)ttC>ttA		proteolipid protein 1							206.0	191.0	196.0					X																	103040584		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103040584C>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.78C>A	X.37:g.103040584C>A	ENSP00000305152:p.Phe26Leu					PLP1_ENST00000303958.2_Missense_Mutation_p.F26L|PLP1_ENST00000361621.2_Missense_Mutation_p.F26L	p.F26L	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			3	358	+			26					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.78C>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273552	0.59649	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95	5.32	4.46	0.54185	.	0.047339	0.85682	D	0.000000	D	0.99026	0.9667	L	0.56199	1.76	0.47584	D	0.99946	P;D;P	0.57257	0.899;0.979;0.927	D;D;P	0.74023	0.95;0.982;0.801	D	0.98183	1.0458	10	0.30854	T	0.27	4.1219	7.5229	0.27639	0.0:0.8017:0.0:0.1983	.	26;26;26	B1B1G6;P60201;P60201-2	.;MYPR_HUMAN;.	L	26	ENSP00000403335:F26L;ENSP00000399913:F26L;ENSP00000409802:F26L;ENSP00000413931:F26L;ENSP00000393391:F26L;ENSP00000405750:F26L;ENSP00000391853:F26L;ENSP00000305152:F26L;ENSP00000354860:F26L	ENSP00000305152:F26L	F	+	3	2	PLP1	102927240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.659000	0.61504	1.022000	0.39626	-0.191000	0.12829	TTC		0.502	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			84	157	1	0	6.16549e-39	1	8.89393e-39	84	157				
ALG13	79868	broad.mit.edu	37	X	110978304	110978304	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:110978304C>A	ENST00000394780.3	+	22	2495	c.2483C>A	c.(2482-2484)tCt>tAt	p.S828Y	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.S724Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	828					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						AAGTCATGTTCTATGTCTCCT	0.323																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(2482-2484)tCt>tAt		ALG13, UDP-N-acetylglucosaminyltransferase subunit							115.0	93.0	100.0					X																	110978304		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110978304C>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2483C>A	X.37:g.110978304C>A	ENSP00000378260:p.Ser828Tyr					ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.S724Y	p.S828Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			22	2495	+			828					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.2483C>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582485	0.28180	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.37752	1.18;2.05	4.99	4.1	0.47936	.	0.478922	0.22113	N	0.064449	T	0.46580	0.1400	L	0.43152	1.355	0.09310	N	1	D;P;D	0.71674	0.958;0.93;0.998	P;B;D	0.67548	0.568;0.365;0.952	T	0.25222	-1.0138	10	0.52906	T	0.07	-1.3156	8.5314	0.33337	0.0:0.8137:0.0:0.1863	.	750;828;724	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	Y	724;828;461	ENSP00000251943:S724Y;ENSP00000378260:S828Y	ENSP00000251943:S724Y	S	+	2	0	ALG13	110864960	0.004000	0.15560	0.397000	0.26308	0.251000	0.25915	0.930000	0.28858	1.016000	0.39470	0.600000	0.82982	TCT		0.323	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		15	28	1	0	1.15088e-07	1	1.32965e-07	15	28				
GRIA3	2892	broad.mit.edu	37	X	122460038	122460038	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122460038G>A	ENST00000371251.1	+	4	722	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	GRIA3_ENST00000541091.1_Missense_Mutation_p.E208K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E224K|GRIA3_ENST00000264357.5_Missense_Mutation_p.E224K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E224K			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	224					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CTGCGAAGTCGAAAGGATTAA	0.418																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(670-672)Gaa>Aaa		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						123.0	106.0	112.0					X																	122460038		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122460038G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.670G>A	X.37:g.122460038G>A	ENSP00000360297:p.Glu224Lys					GRIA3_ENST00000542149.1_Missense_Mutation_p.E224K|GRIA3_ENST00000371251.1_Missense_Mutation_p.E224K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E208K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E224K	p.E224K	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			4	962	+			224					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.670G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714256	0.68730	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.66	4.8	0.61643	Extracellular ligand-binding receptor (1);	0.182950	0.56097	D	0.000022	T	0.79106	0.4390	L	0.37561	1.115	0.53688	D	0.999978	B;B;B	0.26400	0.148;0.135;0.111	B;B;B	0.22386	0.039;0.027;0.016	T	0.76293	-0.3012	10	0.87932	D	0	.	12.8719	0.57970	0.0799:0.0:0.9201:0.0	.	208;224;224	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	K	224;224;224;224;208	ENSP00000264357:E224K;ENSP00000446146:E224K;ENSP00000360302:E224K;ENSP00000360297:E224K;ENSP00000446440:E208K	ENSP00000264357:E224K	E	+	1	0	GRIA3	122287719	1.000000	0.71417	0.943000	0.38184	0.998000	0.95712	9.444000	0.97578	1.145000	0.42336	0.600000	0.82982	GAA		0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		12	89	0	0	0	1	0	12	89				
ALS2CR12	130540	broad.mit.edu	37	2	202154232	202154232	+	Nonsense_Mutation	SNP	C	C	A	rs149980324		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202154232C>A	ENST00000286190.5	-	13	1205	c.1159G>T	c.(1159-1161)Gaa>Taa	p.E387*	ALS2CR12_ENST00000439709.1_Nonsense_Mutation_p.E364*|ALS2CR12_ENST00000392257.3_Nonsense_Mutation_p.E364*|ALS2CR12_ENST00000405148.2_Nonsense_Mutation_p.E387*			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	387					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTATACTTTTCTTCAGTTTCA	0.418																																						ENST00000405148.2																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1159-1161)Gaa>Taa		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12							171.0	171.0	171.0					2																	202154232		2203	4300	6503	SO:0001587	stop_gained	130540				regulation of GTPase activity		protein binding	g.chr2:202154232C>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.1159G>T	2.37:g.202154232C>A	ENSP00000286190:p.Glu387*					ALS2CR12_ENST00000286190.5_Nonsense_Mutation_p.E387*|ALS2CR12_ENST00000392257.3_Nonsense_Mutation_p.E364*|ALS2CR12_ENST00000439709.1_Nonsense_Mutation_p.E364*	p.E387*	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN			14	1602	-			387					G5E9S3|Q53TT6|Q8N1B6	Nonsense_Mutation	SNP	ENST00000286190.5	37	c.1159G>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	38	6.680625	0.97759	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	.	.	.	4.7	4.7	0.59300	.	0.245925	0.28847	N	0.013949	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-7.4273	14.6951	0.69115	0.0:1.0:0.0:0.0	.	.	.	.	X	387;387;364;364	.	ENSP00000286190:E387X	E	-	1	0	ALS2CR12	201862477	0.999000	0.42202	0.959000	0.39883	0.214000	0.24535	3.894000	0.56250	2.442000	0.82660	0.561000	0.74099	GAA		0.418	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		24	68	1	0	9.39395e-14	1	1.21013e-13	24	68				
MMP11	4320	broad.mit.edu	37	22	24124645	24124645	+	Silent	SNP	C	C	T	rs546922322		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24124645C>T	ENST00000215743.3	+	7	1360	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	AP000349.1_ENST00000598975.1_Missense_Mutation_p.D192N	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	436					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CCTCTGAGATCGACGCTGCCT	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		18682	0.0		0.0	False		,,,				2504	0.001					ENST00000598975.1																			0											c.(574-576)Gat>Aat									35.0	27.0	30.0					22																	24124645		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr22:24124645C>T		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1308C>T	22.37:g.24124645C>T						MMP11_ENST00000215743.3_Silent_p.I436I	p.D192N							2	573	-								Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.574G>A	CCDS13816.1																																																																																				0.677	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		11	21	0	0	0	1	0	11	21				
PIGF	5281	broad.mit.edu	37	2	46842208	46842208	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46842208C>A	ENST00000281382.6	-	2	266	c.96G>T	c.(94-96)gaG>gaT	p.E32D	PIGF_ENST00000495933.1_5'UTR|CRIPT_ENST00000238892.3_5'Flank|PIGF_ENST00000306465.4_Missense_Mutation_p.E32D	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	32					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTGAGAAGTTCTCCAAGAAGA	0.343																																						ENST00000281382.6																			0				breast(1)|endometrium(1)|lung(1)|stomach(1)	4						c.(94-96)gaG>gaT		phosphatidylinositol glycan anchor biosynthesis, class F							136.0	137.0	136.0					2																	46842208		2203	4299	6502	SO:0001583	missense	5281				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity	g.chr2:46842208C>A		CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"""Phosphatidylinositol glycan anchor biosynthesis"""	8962	protein-coding gene	gene with protein product		600153	"""phosphatidylinositol glycan, class F"""			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.96G>T	2.37:g.46842208C>A	ENSP00000281382:p.Glu32Asp					PIGF_ENST00000306465.4_Missense_Mutation_p.E32D|PIGF_ENST00000495933.1_5'UTR	p.E32D	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	266	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	32					Q8WW20	Missense_Mutation	SNP	ENST00000281382.6	37	c.96G>T	CCDS1827.1	.	.	.	.	.	.	.	.	.	.	C	8.193	0.796353	0.16327	.	.	ENSG00000151665	ENST00000281382;ENST00000306465;ENST00000474980	.	.	.	5.28	2.42	0.29668	.	0.411462	0.28521	N	0.015058	T	0.07413	0.0187	N	0.01015	-1.05	0.22389	N	0.999144	B;B	0.11235	0.0;0.004	B;B	0.11329	0.001;0.006	T	0.35076	-0.9803	9	0.07175	T	0.84	-1.2944	4.3062	0.10947	0.2479:0.4246:0.2551:0.0724	.	32;32	Q07326;Q07326-2	PIGF_HUMAN;.	D	32	.	ENSP00000281382:E32D	E	-	3	2	PIGF	46695712	0.823000	0.29233	0.999000	0.59377	0.924000	0.55760	0.166000	0.16583	0.275000	0.22094	0.650000	0.86243	GAG		0.343	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250749.2	NM_173074		30	62	1	0	1.06801e-11	1	1.33247e-11	30	62				
PIK3C2G	5288	broad.mit.edu	37	12	18435082	18435082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:18435082G>T	ENST00000266497.5	+	1	105	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	PIK3C2G_ENST00000433979.1_Nonsense_Mutation_p.E23*|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.E23*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E23*			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	23					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.E23*(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGAACACCAAGAATTTCTCTT	0.388																																						ENST00000433979.1																			2	Substitution - Nonsense(2)	p.E23*(2)	large_intestine(2)	breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(67-69)Gaa>Taa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							63.0	59.0	60.0					12																	18435082		1856	4097	5953	SO:0001587	stop_gained	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435082G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.67G>T	12.37:g.18435082G>T	ENSP00000266497:p.Glu23*					PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E23*|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.E23*|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.E23*	p.E23*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			2	183	+		Hepatocellular(102;0.194)	23					A1L3U0	Nonsense_Mutation	SNP	ENST00000266497.5	37	c.67G>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728127	0.69074	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	.	.	.	4.37	2.34	0.29019	.	0.855669	0.10069	N	0.719903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-3.0495	11.1691	0.48560	0.0:0.4828:0.5172:0.0	.	.	.	.	X	23	.	ENSP00000266497:E23X	E	+	1	0	PIK3C2G	18326349	0.027000	0.19231	0.014000	0.15608	0.447000	0.32167	1.490000	0.35573	0.630000	0.30394	0.655000	0.94253	GAA		0.388	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		3	7	1	0	6.4e-05	1	6.95424e-05	3	7				
FAN1	22909	broad.mit.edu	37	15	31197613	31197613	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31197613G>T	ENST00000362065.4	+	2	1038	c.747G>T	c.(745-747)gaG>gaT	p.E249D	FAN1_ENST00000561594.1_Missense_Mutation_p.E249D|FAN1_ENST00000561607.1_Missense_Mutation_p.E249D|FAN1_ENST00000565466.1_Missense_Mutation_p.E249D	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	249					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GGGAATGTGAGAAATCAGCCC	0.403								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(745-747)gaG>gaT	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							59.0	57.0	57.0					15																	31197613		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197613G>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.747G>T	15.37:g.31197613G>T	ENSP00000354497:p.Glu249Asp					FAN1_ENST00000561607.1_Missense_Mutation_p.E249D|FAN1_ENST00000561594.1_Missense_Mutation_p.E249D|FAN1_ENST00000565466.1_Missense_Mutation_p.E249D	p.E249D	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	1038	+			249					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.747G>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	G	4.203	0.036471	0.08148	.	.	ENSG00000198690	ENST00000362065	T	0.47869	0.83	5.39	4.46	0.54185	.	0.814558	0.11081	N	0.601815	T	0.35595	0.0937	L	0.40543	1.245	0.09310	N	1	B;B	0.24092	0.097;0.053	B;B	0.18561	0.016;0.022	T	0.15235	-1.0444	10	0.12766	T	0.61	-7.0815	9.6236	0.39737	0.0799:0.0:0.767:0.1531	.	249;249	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	D	249	ENSP00000354497:E249D	ENSP00000354497:E249D	E	+	3	2	FAN1	28984905	0.025000	0.19082	0.029000	0.17559	0.745000	0.42441	1.303000	0.33470	2.687000	0.91594	0.655000	0.94253	GAG		0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		12	45	1	0	0.010729	1	0.0110271	12	45				
TMEM56	148534	broad.mit.edu	37	1	95657239	95657239	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:95657239T>C	ENST00000370203.4	+	7	898	c.607T>C	c.(607-609)Tat>Cat	p.Y203H	RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	203	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GTATTCCGTGTATGGAACAGA	0.393																																						ENST00000370203.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12						c.(607-609)Tat>Cat		transmembrane protein 56							247.0	212.0	224.0					1																	95657239		2203	4300	6503	SO:0001583	missense	148534					integral to membrane		g.chr1:95657239T>C		CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.607T>C	1.37:g.95657239T>C	ENSP00000359222:p.Tyr203His					RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron	p.Y203H	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN		all cancers(265;0.133)	7	898	+		all_lung(203;0.0232)|Lung NSC(277;0.0739)	203			TLC.		B2RPI2|D3DT48	Missense_Mutation	SNP	ENST00000370203.4	37	c.607T>C	CCDS753.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935894	0.52972	.	.	ENSG00000152078	ENST00000370203	D	0.85258	-1.96	5.94	2.31	0.28768	TRAM/LAG1/CLN8 homology domain (3);	0.456909	0.25584	N	0.029667	T	0.77778	0.4181	L	0.49350	1.555	0.40698	D	0.982454	P	0.48764	0.915	P	0.57960	0.83	T	0.72257	-0.4346	9	0.30854	T	0.27	0.0517	4.8357	0.13464	0.1184:0.0639:0.1242:0.6935	.	203	Q96MV1	TMM56_HUMAN	H	203	ENSP00000359222:Y203H	ENSP00000359222:Y203H	Y	+	1	0	TMEM56	95429827	0.892000	0.30473	0.324000	0.25361	0.693000	0.40251	3.822000	0.55708	0.134000	0.18681	0.528000	0.53228	TAT		0.393	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029935.1	NM_152487		45	73	0	0	0	1	0	45	73				
PIWIL3	440822	broad.mit.edu	37	22	25152504	25152504	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:25152504A>G	ENST00000332271.5	-	5	940	c.524T>C	c.(523-525)aTa>aCa	p.I175T	PIWIL3_ENST00000527701.1_Missense_Mutation_p.I66T|PIWIL3_ENST00000533313.1_Missense_Mutation_p.I66T|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	175					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCATCAAATATATGGCGCTC	0.343																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(523-525)aTa>aCa		piwi-like RNA-mediated gene silencing 3							89.0	90.0	90.0					22																	25152504		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25152504A>G	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.524T>C	22.37:g.25152504A>G	ENSP00000330031:p.Ile175Thr					PIWIL3_ENST00000533313.1_Missense_Mutation_p.I66T|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.I66T	p.I175T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			5	940	-			175						Missense_Mutation	SNP	ENST00000332271.5	37	c.524T>C	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	A	4.241	0.043616	0.08196	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.12774	2.65;2.65;2.65	2.51	1.46	0.22682	Argonaute/Dicer protein, PAZ (1);	0.369501	0.27705	U	0.018189	T	0.10895	0.0266	L	0.49350	1.555	0.09310	N	1	B;P;B	0.47484	0.032;0.896;0.112	B;B;B	0.41466	0.013;0.358;0.05	T	0.16571	-1.0398	10	0.36615	T	0.2	-10.0379	4.4889	0.11803	0.6974:0.0:0.3026:0.0	.	66;175;175	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	T	175;66;66	ENSP00000330031:I175T;ENSP00000431843:I66T;ENSP00000435718:I66T	ENSP00000330031:I175T	I	-	2	0	PIWIL3	23482504	0.907000	0.30839	0.004000	0.12327	0.300000	0.27592	2.720000	0.47252	0.392000	0.25172	0.374000	0.22700	ATA		0.343	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		9	18	0	0	0	1	0	9	18				
DENND4A	10260	broad.mit.edu	37	15	66048662	66048662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66048662C>A	ENST00000431932.2	-	3	335	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	DENND4A_ENST00000443035.3_Nonsense_Mutation_p.E43*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	43	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E43*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTAATAGGTTCTTTTGGTTTA	0.373																																						ENST00000443035.3																			1	Substitution - Nonsense(1)	p.E43*(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(127-129)Gaa>Taa		DENN/MADD domain containing 4A							72.0	69.0	70.0					15																	66048662		1826	4074	5900	SO:0001587	stop_gained	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66048662C>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.127G>T	15.37:g.66048662C>A	ENSP00000396830:p.Glu43*					DENND4A_ENST00000431932.2_Nonsense_Mutation_p.E43*	p.E43*	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			3	342	-			43			MABP.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	ENST00000431932.2	37	c.127G>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	39	7.770698	0.98480	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.6	5.6	0.85130	.	0.055271	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000396830:E43X	E	-	1	0	DENND4A	63835716	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.630000	0.89119	0.591000	0.81541	GAA		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		6	15	1	0	5.9392e-07	1	6.75488e-07	6	15				
GPR133	283383	broad.mit.edu	37	12	131456095	131456095	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:131456095A>G	ENST00000261654.5	+	4	839	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	GPR133_ENST00000535015.1_Missense_Mutation_p.I126V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	94					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAGCTCCTGCATCAGCAAGCC	0.507																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(280-282)Atc>Gtc		G protein-coupled receptor 133							74.0	60.0	65.0					12																	131456095		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131456095A>G	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.280A>G	12.37:g.131456095A>G	ENSP00000261654:p.Ile94Val					GPR133_ENST00000535015.1_Missense_Mutation_p.I126V	p.I94V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	4	839	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		94					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.280A>G	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609518	0.28623	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015	T;T;T	0.57436	0.68;0.4;0.69	4.73	-2.88	0.05682	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.433089	0.23395	N	0.048660	T	0.48750	0.1517	L	0.52573	1.65	0.80722	D	1	P;P	0.45396	0.857;0.726	P;P	0.48738	0.588;0.506	T	0.49041	-0.8980	10	0.87932	D	0	.	9.1375	0.36883	0.3315:0.5886:0.0799:0.0	.	126;94	B7ZLF7;Q6QNK2	.;GP133_HUMAN	V	94;94;126	ENSP00000261654:I94V;ENSP00000442501:I94V;ENSP00000444425:I126V	ENSP00000261654:I94V	I	+	1	0	GPR133	130022048	1.000000	0.71417	0.051000	0.19133	0.012000	0.07955	3.978000	0.56881	-0.874000	0.04027	-0.313000	0.08912	ATC		0.507	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		12	26	0	0	0	1	0	12	26				
AP4E1	23431	broad.mit.edu	37	15	51285572	51285572	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:51285572A>C	ENST00000261842.5	+	17	2202	c.2096A>C	c.(2095-2097)aAt>aCt	p.N699T	AP4E1_ENST00000560508.1_Missense_Mutation_p.N624T	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	699					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTTAGGACAAATAGCTTGAAG	0.388																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2095-2097)aAt>aCt		adaptor-related protein complex 4, epsilon 1 subunit							53.0	52.0	52.0					15																	51285572		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51285572A>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2096A>C	15.37:g.51285572A>C	ENSP00000261842:p.Asn699Thr					AP4E1_ENST00000560508.1_Missense_Mutation_p.N624T	p.N699T	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	17	2202	+			699					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2096A>C	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	8.013	0.757974	0.15846	.	.	ENSG00000081014	ENST00000261842	T	0.17370	2.28	5.29	-0.913	0.10500	.	0.368429	0.30840	N	0.008778	T	0.06371	0.0164	N	0.08118	0	0.26027	N	0.981797	B	0.09022	0.002	B	0.06405	0.002	T	0.41770	-0.9490	10	0.09843	T	0.71	-5.2959	9.541	0.39251	0.6486:0.0:0.3514:0.0	.	699	Q9UPM8	AP4E1_HUMAN	T	699	ENSP00000261842:N699T	ENSP00000261842:N699T	N	+	2	0	AP4E1	49072864	0.723000	0.28027	0.883000	0.34634	0.973000	0.67179	0.343000	0.19944	-0.189000	0.10482	0.460000	0.39030	AAT		0.388	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			6	24	0	0	0	1	0	6	24				
DCC	1630	broad.mit.edu	37	18	51053053	51053053	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51053053C>A	ENST00000442544.2	+	28	4794	c.4178C>A	c.(4177-4179)cCt>cAt	p.P1393H	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P1026H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1393					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCAAGATCCCCTTTGCTTCCT	0.468																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(4177-4179)cCt>cAt		deleted in colorectal carcinoma							116.0	106.0	109.0					18																	51053053		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51053053C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4178C>A	18.37:g.51053053C>A	ENSP00000389140:p.Pro1393His					DCC_ENST00000581580.1_Missense_Mutation_p.P1026H|RP11-671P2.1_ENST00000582064.1_RNA	p.P1393H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	28	4794	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1393						Missense_Mutation	SNP	ENST00000442544.2	37	c.4178C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547904	0.45383	.	.	ENSG00000187323	ENST00000442544	T	0.76448	-1.02	5.53	5.53	0.82687	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.87767	0.6260	M	0.71036	2.16	0.46376	D	0.999012	D	0.89917	1.0	D	0.97110	1.0	D	0.88102	0.2820	10	0.59425	D	0.04	-7.6915	18.261	0.90035	0.0:1.0:0.0:0.0	.	1393	P43146	DCC_HUMAN	H	1393	ENSP00000389140:P1393H	ENSP00000389140:P1393H	P	+	2	0	DCC	49307051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.540000	0.73861	2.596000	0.87737	0.655000	0.94253	CCT		0.468	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		34	53	1	0	7.11191e-15	1	9.30872e-15	34	53				
OR2M2	391194	broad.mit.edu	37	1	248343661	248343661	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248343661C>A	ENST00000359682.2	+	1	374	c.374C>A	c.(373-375)gCt>gAt	p.A125D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			CGCTATATTGCTATTTGCCAC	0.393																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(373-375)gCt>gAt		olfactory receptor, family 2, subfamily M, member 2							208.0	218.0	215.0					1																	248343661		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343661C>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.374C>A	1.37:g.248343661C>A	ENSP00000352710:p.Ala125Asp						p.A125D	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	374	+	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)		125					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.374C>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	16.47	3.132333	0.56828	.	.	ENSG00000198601	ENST00000359682	T	0.01234	5.13	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30840	U	0.008771	T	0.15652	0.0377	H	0.99590	4.645	0.31908	N	0.615064	D	0.71674	0.998	D	0.69479	0.964	T	0.49634	-0.8919	10	0.87932	D	0	.	11.6433	0.51246	0.0:1.0:0.0:0.0	.	125	Q96R28	OR2M2_HUMAN	D	125	ENSP00000352710:A125D	ENSP00000352710:A125D	A	+	2	0	OR2M2	246410284	0.998000	0.40836	0.006000	0.13384	0.008000	0.06430	5.555000	0.67301	1.056000	0.40484	0.454000	0.30748	GCT		0.393	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		12	265	1	0	2.27111e-07	1	2.60515e-07	12	265				
USP9X	8239	broad.mit.edu	37	X	41043781	41043781	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41043781G>A	ENST00000324545.8	+	23	4044	c.3411G>A	c.(3409-3411)ccG>ccA	p.P1137P	USP9X_ENST00000378308.2_Silent_p.P1137P	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1137					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTCCTACCGAATGCAGATA	0.453																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3409-3411)ccG>ccA		ubiquitin specific peptidase 9, X-linked							116.0	106.0	109.0					X																	41043781		2168	4276	6444	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41043781G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3411G>A	X.37:g.41043781G>A						USP9X_ENST00000378308.2_Silent_p.P1137P	p.P1137P	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			23	4044	+			1137					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.3411G>A	CCDS43930.1																																																																																				0.453	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		7	39	0	0	0	1	0	7	39				
CKAP4	10970	broad.mit.edu	37	12	106633909	106633909	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:106633909C>A	ENST00000378026.4	-	2	838	c.702G>T	c.(700-702)gaG>gaT	p.E234D	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	234						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACCGTGTTCTCCAGGGACG	0.552																																						ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(700-702)gaG>gaT		cytoskeleton-associated protein 4							89.0	85.0	86.0					12																	106633909		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633909C>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.702G>T	12.37:g.106633909C>A	ENSP00000367265:p.Glu234Asp					CKAP4_ENST00000552828.1_5'UTR	p.E234D	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN			2	838	-			234					Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.702G>T	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369775	0.82573	.	.	ENSG00000136026	ENST00000378026	D	0.84800	-1.9	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.90280	0.6960	M	0.76328	2.33	0.48087	D	0.999586	D	0.89917	1.0	D	0.85130	0.997	D	0.89310	0.3632	10	0.45353	T	0.12	-31.8671	7.597	0.28054	0.0:0.807:0.0:0.193	.	234	Q07065	CKAP4_HUMAN	D	234	ENSP00000367265:E234D	ENSP00000367265:E234D	E	-	3	2	CKAP4	105158039	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.749000	0.47492	2.758000	0.94735	0.563000	0.77884	GAG		0.552	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			37	63	1	0	9.45814e-24	1	1.32461e-23	37	63				
HECTD2	143279	broad.mit.edu	37	10	93258717	93258717	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:93258717G>A	ENST00000298068.5	+	17	1937		c.e17+1		HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000446394.1_Splice_Site	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AATAGAAAAGGTAAGTTAATA	0.274																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.e18+1		HECT domain containing E3 ubiquitin protein ligase 2							42.0	43.0	43.0					10																	93258717		2191	4283	6474	SO:0001630	splice_region_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93258717G>A	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1843+1G>A	10.37:g.93258717G>A						HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000298068.5_Splice_Site				Q5U5R9	HECD2_HUMAN			18	1955	+								Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Splice_Site	SNP	ENST00000298068.5	37		CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171810	0.78452	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5019	0.95098	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECTD2	93248697	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.745000	0.91600	2.776000	0.95493	0.650000	0.86243	.		0.274	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		Intron	12	20	0	0	0	1	0	12	20				
ARID2	196528	broad.mit.edu	37	12	46246346	46246346	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:46246346A>G	ENST00000334344.6	+	15	4612	c.4440A>G	c.(4438-4440)ggA>ggG	p.G1480G	ARID2_ENST00000422737.1_Silent_p.G1331G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Silent_p.G88G|ARID2_ENST00000444670.1_Silent_p.G1090G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1480					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTATACAGGGACATCAAATCA	0.448			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4438-4440)ggA>ggG		AT rich interactive domain 2 (ARID, RFX-like)							120.0	114.0	116.0					12																	46246346		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246346A>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4440A>G	12.37:g.46246346A>G						ARID2_ENST00000444670.1_Silent_p.G1090G|ARID2_ENST00000457135.1_Silent_p.G88G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.G1331G	p.G1480G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4612	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1480					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.4440A>G	CCDS31783.1																																																																																				0.448	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		38	64	0	0	0	1	0	38	64				
ZNF479	90827	broad.mit.edu	37	7	57188340	57188340	+	Missense_Mutation	SNP	C	C	A	rs186421110	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:57188340C>A	ENST00000331162.4	-	5	1052	c.782G>T	c.(781-783)aGa>aTa	p.R261I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAGTTCTCTTATGTCT	0.423																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(781-783)aGa>aTa		zinc finger protein 479							42.0	44.0	43.0					7																	57188340		2115	4247	6362	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188340C>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.782G>T	7.37:g.57188340C>A	ENSP00000333776:p.Arg261Ile						p.R261I	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1052	-			261						Missense_Mutation	SNP	ENST00000331162.4	37	c.782G>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	2.858	-0.236844	0.05944	.	.	ENSG00000185177	ENST00000331162	T	0.02446	4.29	1.01	-0.114	0.13564	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03263	0.0095	M	0.72624	2.21	0.36682	D	0.879092	B	0.10296	0.003	B	0.04013	0.001	T	0.37033	-0.9723	9	0.22109	T	0.4	.	1.8766	0.03219	0.3238:0.4445:0.0:0.2317	.	261	Q96JC4	ZN479_HUMAN	I	261	ENSP00000333776:R261I	ENSP00000333776:R261I	R	-	2	0	ZNF479	57192282	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.004000	0.13106	-0.385000	0.07833	-0.383000	0.06682	AGA		0.423	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		18	21	1	0	5.01169e-05	1	5.45927e-05	18	21				
LRRFIP1	9208	broad.mit.edu	37	2	238662113	238662113	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238662113G>T	ENST00000392000.4	+	8	762	c.645G>T	c.(643-645)gaG>gaT	p.E215D	LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E343D|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.E191D|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E159D	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	215					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTACGAAGAGAAAAACAAAG	0.438																																						ENST00000244815.5																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(571-573)gaG>gaT		leucine rich repeat (in FLII) interacting protein 1							95.0	97.0	97.0					2																	238662113		2203	4300	6503	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238662113G>T	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.645G>T	2.37:g.238662113G>T	ENSP00000375857:p.Glu215Asp					LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E343D|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.E215D|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E159D	p.E191D	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	7	813	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	215					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.573G>T	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548238	0.45383	.	.	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000392000	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.64	3.84	0.44239	.	0.330011	0.34223	N	0.004146	T	0.47021	0.1423	L	0.56280	1.765	0.52099	D	0.999945	B;B;B;B;B	0.30511	0.005;0.174;0.151;0.282;0.005	B;B;B;B;B	0.36766	0.019;0.22;0.232;0.22;0.052	T	0.36962	-0.9726	10	0.35671	T	0.21	-35.5843	6.4732	0.22020	0.2124:0.135:0.6526:0.0	.	159;159;215;191;343	B4DPC0;Q32MZ4-3;Q32MZ4;Q32MZ4-2;E9PGZ2	.;.;LRRF1_HUMAN;.;.	D	343;159;333;191;215	ENSP00000310109:E343D;ENSP00000289175:E159D;ENSP00000244815:E191D;ENSP00000375857:E215D	ENSP00000244815:E191D	E	+	3	2	LRRFIP1	238326852	0.768000	0.28519	0.989000	0.46669	0.933000	0.57130	-0.162000	0.10012	0.848000	0.35191	0.650000	0.86243	GAG		0.438	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		17	60	1	0	3.32936e-07	1	3.80431e-07	17	60				
SIRPB2	284759	broad.mit.edu	37	20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A	rs374055663		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000444444.2_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	134					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478																																						ENST00000359801.3																			2	Substitution - Missense(2)	p.S240L(1)|p.S141L(1)	large_intestine(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(421-423)tCg>tTg		signal-regulatory protein beta 2		G	LEU/SER,	2,3134		0,2,1566	181.0	156.0	164.0		422,	-0.9	0.0	20		164	0,7164		0,0,3582	no	missense,intron	SIRPB2	NM_001122962.1,NM_001134836.1	145,	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	benign,	141/343,	1460374	2,10298	1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460374G>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.422C>T	20.37:g.1460374G>A	ENSP00000352849:p.Ser141Leu					SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L	p.S141L	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			2	458	-			141			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.422C>T	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	5.872	0.344962	0.11126	6.38E-4	0.0	ENSG00000196209	ENST00000359801;ENST00000537284	T;T	0.39406	1.08;4.32	4.03	-0.905	0.10527	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.051780	0.02728	N	0.114791	T	0.17152	0.0412	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.18808	-1.0325	10	0.11485	T	0.65	-16.8466	7.1865	0.25803	0.55:0.0:0.45:0.0	.	3;141	F5H204;Q5JXA9	.;SIRB2_HUMAN	L	141;3	ENSP00000352849:S141L;ENSP00000445632:S3L	ENSP00000352849:S141L	S	-	2	0	SIRPB2	1408374	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.125000	0.31332	-0.048000	0.13401	-0.140000	0.14226	TCG		0.478	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		55	119	0	0	0	1	0	55	119				
COPB1	1315	broad.mit.edu	37	11	14480092	14480092	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:14480092G>A	ENST00000249923.3	-	21	3088	c.2788C>T	c.(2788-2790)Cgt>Tgt	p.R930C	COPB1_ENST00000439561.2_Missense_Mutation_p.R930C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	930					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTCTTTGCACGAATTCTTATA	0.413																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(2788-2790)Cgt>Tgt		coatomer protein complex, subunit beta 1							74.0	76.0	75.0					11																	14480092		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14480092G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2788C>T	11.37:g.14480092G>A	ENSP00000249923:p.Arg930Cys					COPB1_ENST00000439561.2_Missense_Mutation_p.R930C	p.R930C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			21	3088	-			930					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.2788C>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272042	0.80469	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.71461	-0.57;-0.57	5.63	5.63	0.86233	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92196	0.5764	10	0.87932	D	0	.	19.6846	0.95976	0.0:0.0:1.0:0.0	.	930	P53618	COPB_HUMAN	C	930	ENSP00000249923:R930C;ENSP00000397873:R930C	ENSP00000249923:R930C	R	-	1	0	COPB1	14436668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.855000	0.69510	2.644000	0.89710	0.655000	0.94253	CGT		0.413	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		37	55	0	0	0	1	0	37	55				
CLASP1	23332	broad.mit.edu	37	2	122120867	122120867	+	Nonsense_Mutation	SNP	G	G	A	rs145127425	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:122120867G>A	ENST00000263710.4	-	37	4476	c.4087C>T	c.(4087-4089)Cga>Tga	p.R1363*	CLASP1_ENST00000541377.1_Nonsense_Mutation_p.R1302*|CLASP1_ENST00000455322.2_Nonsense_Mutation_p.R1319*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.R1080*|CLASP1_ENST00000409078.3_Nonsense_Mutation_p.R1296*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.R1070*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.R1303*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1363	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.R1363*(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCCAGTGCTCGAATTGAATGC	0.468																																						ENST00000263710.4																			2	Substitution - Nonsense(2)	p.R1363*(2)	large_intestine(2)	NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(4087-4089)Cga>Tga		cytoplasmic linker associated protein 1							71.0	65.0	67.0					2																	122120867		1960	4154	6114	SO:0001587	stop_gained	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122120867G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4087C>T	2.37:g.122120867G>A	ENSP00000263710:p.Arg1363*					CLASP1_ENST00000409078.3_Nonsense_Mutation_p.R1296*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.R1080*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.R1303*|CLASP1_ENST00000455322.2_Nonsense_Mutation_p.R1319*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.R1070*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.R1302*	p.R1363*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			37	4476	-	Renal(3;0.0496)		1363			Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Nonsense_Mutation	SNP	ENST00000263710.4	37	c.4087C>T		.	.	.	.	.	.	.	.	.	.	G	44	11.084874	0.99513	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	.	.	.	5.34	5.34	0.76211	.	0.057652	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1363	14.2001	0.65696	0.0:0.0:0.8145:0.1855	.	.	.	.	X	1363;1319;1303;1302;1080;1296;1070	.	ENSP00000263710:R1363X	R	-	1	2	CLASP1	121837337	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	4.912000	0.63335	2.659000	0.90383	0.563000	0.77884	CGA		0.468	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		8	27	0	0	0	1	0	8	27				
SLC36A4	120103	broad.mit.edu	37	11	92901248	92901248	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92901248C>T	ENST00000326402.4	-	7	760	c.630G>A	c.(628-630)agG>agA	p.R210R	SLC36A4_ENST00000529184.1_Silent_p.R75R	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	210					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCATATATATCCTTAGGTCAA	0.348																																						ENST00000326402.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(628-630)agG>agA		solute carrier family 36 (proton/amino acid symporter), member 4							130.0	129.0	129.0					11																	92901248		2201	4296	6497	SO:0001819	synonymous_variant	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92901248C>T	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.630G>A	11.37:g.92901248C>T						SLC36A4_ENST00000529184.1_Silent_p.R75R	p.R210R	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN			7	760	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	210					Q86X30|Q8IVM5|Q8N8S6	Silent	SNP	ENST00000326402.4	37	c.630G>A	CCDS8291.1																																																																																				0.348	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			17	35	0	0	0	1	0	17	35				
FAM135B	51059	broad.mit.edu	37	8	139164359	139164359	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139164359C>T	ENST00000395297.1	-	13	2529	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787								p.D787Y(2)|p.D787N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCTTGGTGTCCGCATCTTCA	0.522										HNSCC(54;0.14)																												ENST00000395297.1																			4	Substitution - Missense(4)	p.D787Y(2)|p.D787N(2)	breast(2)|kidney(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2359-2361)Gac>Aac		family with sequence similarity 135, member B							48.0	48.0	48.0					8																	139164359		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164359C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2359G>A	8.37:g.139164359C>T	ENSP00000378710:p.Asp787Asn	HNSCC(54;0.14)					p.D787N	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2529	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		787					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2359G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620096	0.46736	.	.	ENSG00000147724	ENST00000395297	T	0.15372	2.43	5.43	5.43	0.79202	.	0.751873	0.13391	N	0.391387	T	0.27524	0.0676	L	0.34521	1.04	0.09310	N	1	D;D;P	0.57257	0.979;0.979;0.455	P;P;B	0.56563	0.801;0.714;0.193	T	0.12192	-1.0557	10	0.38643	T	0.18	-7.1553	16.4153	0.83731	0.0:1.0:0.0:0.0	.	787;787;787	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	787	ENSP00000378710:D787N	ENSP00000276737:D787N	D	-	1	0	FAM135B	139233541	0.031000	0.19500	0.005000	0.12908	0.001000	0.01503	2.627000	0.46469	2.557000	0.86248	0.655000	0.94253	GAC		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		28	42	0	0	0	1	0	28	42				
CIAPIN1	57019	broad.mit.edu	37	16	57466419	57466419	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57466419C>T	ENST00000569979.1	-	5	656	c.610G>A	c.(610-612)Gat>Aat	p.D204N	CIAPIN1_ENST00000568940.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.D191N|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.D177N|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.D204N					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCTCCATATCGTTGGCTGAG	0.488																																						ENST00000394391.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(610-612)Gat>Aat		cytokine induced apoptosis inhibitor 1							92.0	91.0	91.0					16																	57466419		1995	4186	6181	SO:0001583	missense	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57466419C>T	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.610G>A	16.37:g.57466419C>T	ENSP00000458000:p.Asp204Asn					CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.D191N|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.D177N	p.D204N	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN			6	851	-			204						Missense_Mutation	SNP	ENST00000569979.1	37	c.610G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.550299	0.96501	.	.	ENSG00000005194	ENST00000394391	T	0.37235	1.21	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.64630	1.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.55328	-0.8158	10	0.46703	T	0.11	-15.8462	19.1493	0.93481	0.0:1.0:0.0:0.0	.	191;204	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	N	204	ENSP00000377914:D204N	ENSP00000377914:D204N	D	-	1	0	CIAPIN1	56023920	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	6.886000	0.75611	2.835000	0.97688	0.650000	0.86243	GAT		0.488	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		28	60	0	0	0	1	0	28	60				
HR	55806	broad.mit.edu	37	8	21982828	21982828	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:21982828C>A	ENST00000381418.4	-	5	3226	c.1746G>T	c.(1744-1746)cgG>cgT	p.R582R	HR_ENST00000312841.8_Silent_p.R582R	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	582					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTCACCTTCCCGCTGGGCCC	0.687																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1744-1746)cgG>cgT		hair growth associated							10.0	11.0	11.0					8																	21982828		2178	4274	6452	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21982828C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1746G>T	8.37:g.21982828C>A						HR_ENST00000312841.8_Silent_p.R582R	p.R582R	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	3226	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	582					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.1746G>T	CCDS6022.1																																																																																				0.687	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			5	6	1	0	0.000602214	1	0.000636035	5	6				
HIBADH	11112	broad.mit.edu	37	7	27582659	27582659	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27582659A>C	ENST00000265395.2	-	5	751	c.545T>G	c.(544-546)tTt>tGt	p.F182C		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	182					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			GGCAGCAGCAAATTCATCTTC	0.483																																						ENST00000265395.2																			0				endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(544-546)tTt>tGt		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						99.0	84.0	89.0					7																	27582659		2203	4300	6503	SO:0001583	missense	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27582659A>C	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.545T>G	7.37:g.27582659A>C	ENSP00000265395:p.Phe182Cys						p.F182C	NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		5	751	-			182					Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	c.545T>G	CCDS5414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.968623|3.968623	0.74131|0.74131	.|.	.|.	ENSG00000106049|ENSG00000106049	ENST00000265395|ENST00000425715	T|.	0.36157|.	1.27|.	5.92|5.92	5.92|5.92	0.95590|0.95590	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);|.	0.047977|.	0.85682|.	D|.	0.000000|.	D|D	0.83552|0.83552	0.5279|0.5279	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.73708|.	0.981;0.981|.	D|D	0.86329|0.86329	0.1697|0.1697	10|5	0.87932|.	D|.	0|.	-0.0041|-0.0041	16.3631|16.3631	0.83280|0.83280	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	182;182|.	Q546Z2;P31937|.	.;3HIDH_HUMAN|.	C|V	182|125	ENSP00000265395:F182C|.	ENSP00000265395:F182C|.	F|L	-|-	2|1	0|2	HIBADH|HIBADH	27549184|27549184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.306000|4.306000	0.59117|0.59117	2.266000|2.266000	0.75297|0.75297	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.483	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		9	41	0	0	0	1	0	9	41				
ADCK2	90956	broad.mit.edu	37	7	140380894	140380894	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:140380894A>C	ENST00000072869.4	+	4	1440	c.1262A>C	c.(1261-1263)aAa>aCa	p.K421T	ADCK2_ENST00000476491.1_Missense_Mutation_p.K421T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	421	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GTGGACTTGAAAAGGAAGATT	0.562																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1261-1263)aAa>aCa		aarF domain containing kinase 2							131.0	110.0	117.0					7																	140380894		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140380894A>C	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1262A>C	7.37:g.140380894A>C	ENSP00000072869:p.Lys421Thr					ADCK2_ENST00000476491.1_Missense_Mutation_p.K421T	p.K421T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			4	1440	+	Melanoma(164;0.00956)		421			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.1262A>C	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.45|17.45	3.392743|3.392743	0.62066|0.62066	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000483369|ENST00000072869;ENST00000476491;ENST00000473512	.|T;T;T	.|0.30182	.|1.54;1.54;1.54	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	.|0.071028	.|0.56097	.|D	.|0.000032	T|T	0.35480|0.35480	0.0933|0.0933	M|M	0.67625|0.67625	2.065|2.065	0.42629|0.42629	D|D	0.993374|0.993374	.|B;P	.|0.49696	.|0.399;0.927	.|B;P	.|0.49451	.|0.287;0.611	T|T	0.21724|0.21724	-1.0237|-1.0237	5|10	.|0.46703	.|T	.|0.11	-14.6393|-14.6393	4.8077|4.8077	0.13328|0.13328	0.8248:0.0:0.1752:0.0|0.8248:0.0:0.1752:0.0	.|.	.|421;421	.|C9JE15;Q7Z695	.|.;ADCK2_HUMAN	D|T	258|421;421;61	.|ENSP00000072869:K421T;ENSP00000420512:K421T;ENSP00000420288:K61T	.|ENSP00000072869:K421T	E|K	+|+	3|2	2|0	ADCK2|ADCK2	140027363|140027363	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.762000|0.762000	0.43233|0.43233	4.839000|4.839000	0.62810|0.62810	1.749000|1.749000	0.51849|0.51849	0.459000|0.459000	0.35465|0.35465	GAA|AAA		0.562	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		23	52	0	0	0	1	0	23	52				
GBP3	2635	broad.mit.edu	37	1	89476677	89476677	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89476677A>C	ENST00000370481.4	-	8	1492	c.1272T>G	c.(1270-1272)atT>atG	p.I424M		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTTCGAATAAATTCCCGCCT	0.413																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(1270-1272)atT>atG		guanylate binding protein 3							158.0	136.0	144.0					1																	89476677		2191	3979	6170	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89476677A>C	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1272T>G	1.37:g.89476677A>C	ENSP00000359512:p.Ile424Met						p.I424M	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	8	1492	-		Lung NSC(277;0.123)	424					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.1272T>G	CCDS717.2	.	.	.	.	.	.	.	.	.	.	A	9.744	1.165663	0.21538	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.02067	4.47	3.79	1.52	0.23074	Guanylate-binding protein, C-terminal (3);	1.106510	0.06709	N	0.772853	T	0.01421	0.0046	L	0.55743	1.74	0.09310	N	1	B;P	0.35493	0.45;0.505	B;B	0.41036	0.235;0.346	T	0.48364	-0.9042	10	0.54805	T	0.06	.	6.3342	0.21287	0.7739:0.0:0.226:0.0	.	290;424	F6X827;Q9H0R5	.;GBP3_HUMAN	M	392;424;424	ENSP00000359512:I424M	ENSP00000235878:I424M	I	-	3	3	GBP3	89249265	0.055000	0.20627	0.077000	0.20336	0.022000	0.10575	0.161000	0.16481	0.642000	0.30620	0.491000	0.48974	ATT		0.413	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		86	128	0	0	0	1	0	86	128				
USP8	9101	broad.mit.edu	37	15	50769684	50769684	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:50769684G>T	ENST00000396444.3	+	10	1544	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	USP8_ENST00000433963.1_Missense_Mutation_p.K402N|USP8_ENST00000425032.3_Missense_Mutation_p.K325N|USP8_ENST00000307179.4_Missense_Mutation_p.K402N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	402					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTAGTATAAAGAATGTTCCAC	0.373																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1204-1206)aaG>aaT		ubiquitin specific peptidase 8							89.0	91.0	91.0					15																	50769684		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50769684G>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1206G>T	15.37:g.50769684G>T	ENSP00000379721:p.Lys402Asn					USP8_ENST00000396444.3_Missense_Mutation_p.K402N|USP8_ENST00000425032.3_Missense_Mutation_p.K325N|USP8_ENST00000307179.4_Missense_Mutation_p.K402N	p.K402N	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	11	1706	+			402					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1206G>T	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862064	0.51482	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.19394	2.16;2.16;2.16;2.15	4.86	1.9	0.25705	.	0.245861	0.45606	D	0.000351	T	0.20740	0.0499	L	0.29908	0.895	0.36810	D	0.885849	P;P;D	0.60160	0.455;0.455;0.987	B;B;P	0.54544	0.149;0.149;0.755	T	0.11792	-1.0573	10	0.20519	T	0.43	-11.7758	8.6076	0.33782	0.4073:0.0:0.5927:0.0	.	325;402;402	B4DKA8;P40818;A8K8N5	.;UBP8_HUMAN;.	N	402;402;402;325	ENSP00000379721:K402N;ENSP00000405537:K402N;ENSP00000302239:K402N;ENSP00000412682:K325N	ENSP00000302239:K402N	K	+	3	2	USP8	48556976	0.990000	0.36364	0.975000	0.42487	0.802000	0.45316	0.494000	0.22467	0.582000	0.29556	0.460000	0.39030	AAG		0.373	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		29	48	1	0	4.22769e-11	1	5.2466e-11	29	48				
ARSD	414	broad.mit.edu	37	X	2835914	2835914	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2835914G>A	ENST00000381154.1	-	5	869	c.794C>T	c.(793-795)aCg>aTg	p.T265M	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	265					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGTTGCTCCGTGACGTCATG	0.493																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(793-795)aCg>aTg		arylsulfatase D							49.0	45.0	46.0					X																	2835914		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2835914G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.794C>T	X.37:g.2835914G>A	ENSP00000370546:p.Thr265Met					ARSD_ENST00000217890.6_5'UTR	p.T265M	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			5	869	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	265					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.794C>T	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	g	13.78	2.339188	0.41398	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93811	-3.29	3.36	2.48	0.30137	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.565715	0.18205	U	0.148367	D	0.96269	0.8783	M	0.87456	2.885	0.28216	N	0.926719	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.951	D	0.91107	0.4919	10	0.62326	D	0.03	.	9.926	0.41492	0.1084:0.0:0.8916:0.0	.	265;265	E9PAW5;P51689	.;ARSD_HUMAN	M	265	ENSP00000370546:T265M	ENSP00000217890:T265M	T	-	2	0	ARSD	2845914	0.927000	0.31430	0.041000	0.18516	0.762000	0.43233	3.584000	0.53936	0.335000	0.23614	0.281000	0.19383	ACG		0.493	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			19	29	0	0	0	1	0	19	29				
HS6ST2	90161	broad.mit.edu	37	X	132091120	132091120	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:132091120G>A	ENST00000370836.2	-	3	1078	c.663C>T	c.(661-663)ttC>ttT	p.F221F	HS6ST2_ENST00000370833.2_Silent_p.F75F|HS6ST2_ENST00000521489.1_Silent_p.F221F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	221					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CCTTGATGTCGAAGTCTACCT	0.637																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(661-663)ttC>ttT		heparan sulfate 6-O-sulfotransferase 2							36.0	41.0	39.0					X																	132091120		2160	4258	6418	SO:0001819	synonymous_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:132091120G>A	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.663C>T	X.37:g.132091120G>A						HS6ST2_ENST00000521489.1_Silent_p.F221F|HS6ST2_ENST00000370833.2_Silent_p.F75F|HS6ST2_ENST00000370837.1_Silent_p.F75F	p.F221F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			3	1078	-	Acute lymphoblastic leukemia(192;0.000127)		221					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	ENST00000370836.2	37	c.663C>T	CCDS48169.1																																																																																				0.637	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		20	32	0	0	0	1	0	20	32				
SNPH	9751	broad.mit.edu	37	20	1285531	1285531	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1285531G>A	ENST00000381873.3	+	6	554	c.318G>A	c.(316-318)gaG>gaA	p.E106E	SNPH_ENST00000381867.1_Silent_p.E150E	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	106					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGACACAGAGATTGATGACC	0.627																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(448-450)gaG>gaA		syntaphilin							61.0	58.0	59.0					20																	1285531		2203	4300	6503	SO:0001819	synonymous_variant	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1285531G>A		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.318G>A	20.37:g.1285531G>A						SNPH_ENST00000381873.3_Silent_p.E106E	p.E150E			O15079	SNPH_HUMAN			7	1092	+			106					Q8IYI3	Silent	SNP	ENST00000381873.3	37	c.450G>A	CCDS13012.1																																																																																				0.627	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		29	72	0	0	0	1	0	29	72				
TK2	7084	broad.mit.edu	37	16	66565347	66565347	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:66565347C>T	ENST00000451102.2	-	5	661	c.311G>A	c.(310-312)cGc>cAc	p.R104H	TK2_ENST00000545043.2_Missense_Mutation_p.R79H|TK2_ENST00000527800.1_Missense_Mutation_p.R7H|TK2_ENST00000525974.1_Missense_Mutation_p.R7H|TK2_ENST00000299697.7_Missense_Mutation_p.R146H|TK2_ENST00000563369.2_Missense_Mutation_p.R7H|TK2_ENST00000564917.1_Missense_Mutation_p.R104H|TK2_ENST00000527284.1_Missense_Mutation_p.R73H|TK2_ENST00000417693.3_Missense_Mutation_p.R86H|TK2_ENST00000544898.1_Missense_Mutation_p.R55H			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	104					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		AAGACCCCAGCGAGAGGCATC	0.522																																						ENST00000299697.7																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(436-438)cGc>cAc		thymidine kinase 2, mitochondrial							130.0	92.0	105.0					16																	66565347		2201	4300	6501	SO:0001583	missense	7084				pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity	g.chr16:66565347C>T		CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.311G>A	16.37:g.66565347C>T	ENSP00000414334:p.Arg104His					TK2_ENST00000544898.1_Missense_Mutation_p.R55H|TK2_ENST00000417693.3_Missense_Mutation_p.R86H|TK2_ENST00000563369.2_Missense_Mutation_p.R7H|TK2_ENST00000525974.1_Missense_Mutation_p.R7H|TK2_ENST00000564917.1_Missense_Mutation_p.R104H|TK2_ENST00000527800.1_Missense_Mutation_p.R7H|TK2_ENST00000451102.2_Missense_Mutation_p.R104H|TK2_ENST00000545043.2_Missense_Mutation_p.R79H|TK2_ENST00000527284.1_Missense_Mutation_p.R73H	p.R146H	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)	5	661	-		Ovarian(137;0.0563)	104					B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Missense_Mutation	SNP	ENST00000451102.2	37	c.437G>A	CCDS10805.2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376437	0.61735	.	.	ENSG00000166548	ENST00000299697;ENST00000417693;ENST00000545043;ENST00000451102;ENST00000527800;ENST00000527284;ENST00000544898;ENST00000525974	D;D;D;D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43	5.95	2.94	0.34122	.	0.119814	0.56097	D	0.000038	D	0.96790	0.8952	M	0.86864	2.845	0.26138	N	0.980325	D;D;D;D;D;D	0.89917	1.0;1.0;0.991;1.0;1.0;0.991	D;D;P;D;D;P	0.76575	0.988;0.977;0.823;0.915;0.988;0.823	D	0.91268	0.5042	10	0.87932	D	0	-5.5973	8.5644	0.33531	0.0:0.7558:0.0:0.2442	.	146;104;55;68;146;73	Q8IZR3;O00142;F5GYK4;A4IF54;E5KNQ5;O00142-2	.;KITM_HUMAN;.;.;.;.	H	146;86;79;104;7;73;55;7	ENSP00000299697:R146H;ENSP00000407469:R86H;ENSP00000438143:R79H;ENSP00000414334:R104H;ENSP00000433770:R7H;ENSP00000435312:R73H;ENSP00000440898:R55H;ENSP00000434594:R7H	ENSP00000299697:R146H	R	-	2	0	TK2	65122848	0.902000	0.30710	0.971000	0.41717	0.425000	0.31504	3.795000	0.55499	0.865000	0.35603	0.491000	0.48974	CGC		0.522	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4			10	52	0	0	0	1	0	10	52				
TOP2B	7155	broad.mit.edu	37	3	25661352	25661352	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:25661352C>A	ENST00000264331.4	-	23	3063		c.e23+1		TOP2B_ENST00000542520.1_Splice_Site|TOP2B_ENST00000435706.2_Splice_Site	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa						ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TAATAAATTACCATGGAATTA	0.333																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.e23+1		topoisomerase (DNA) II beta 180kDa							57.0	54.0	55.0					3																	25661352		1805	4064	5869	SO:0001630	splice_region_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25661352C>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.3063+1G>T	3.37:g.25661352C>A						TOP2B_ENST00000542520.1_Splice_Site|TOP2B_ENST00000264331.4_Splice_Site				Q02880	TOP2B_HUMAN			23	3250	-								Q13600|Q9UMG8|Q9UQP8	Splice_Site	SNP	ENST00000264331.4	37			.	.	.	.	.	.	.	.	.	.	C	17.63	3.438112	0.62955	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6626	0.95878	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOP2B	25636356	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.643000	0.89663	0.655000	0.94253	.		0.333	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			Intron	7	11	1	0	2.0095e-06	1	2.25447e-06	7	11				
CD101	9398	broad.mit.edu	37	1	117552698	117552698	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117552698A>G	ENST00000256652.4	+	2	328	c.270A>G	c.(268-270)cgA>cgG	p.R90R	CD101_ENST00000369470.1_Silent_p.R90R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	90	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.R90R(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCGGGTGCGAAGCGGAGACG	0.532																																						ENST00000256652.4																			1	Substitution - coding silent(1)	p.R90R(1)	lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(268-270)cgA>cgG		CD101 molecule							95.0	85.0	88.0					1																	117552698		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117552698A>G	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.270A>G	1.37:g.117552698A>G						CD101_ENST00000369470.1_Silent_p.R90R	p.R90R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			2	328	+			90			Ig-like C2-type 1.		Q15856	Silent	SNP	ENST00000256652.4	37	c.270A>G	CCDS891.1																																																																																				0.532	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		22	28	0	0	0	1	0	22	28				
TGDS	23483	broad.mit.edu	37	13	95231015	95231015	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95231015A>C	ENST00000261296.5	-	8	748	c.628T>G	c.(628-630)Ttt>Gtt	p.F210V	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	210					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AAAGATATAAATTTTGGAATA	0.274																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(628-630)Ttt>Gtt		TDP-glucose 4,6-dehydratase							59.0	68.0	65.0					13																	95231015		2199	4287	6486	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95231015A>C	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.628T>G	13.37:g.95231015A>C	ENSP00000261296:p.Phe210Val					TGDS_ENST00000498294.1_5'UTR	p.F210V	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			8	748	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		210					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.628T>G	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927648	0.73327	.	.	ENSG00000088451	ENST00000261296	D	0.89415	-2.51	5.6	5.6	0.85130	NAD-dependent epimerase/dehydratase (1);	0.000000	0.85682	D	0.000000	D	0.93736	0.7998	M	0.82193	2.58	0.51482	D	0.999928	D	0.89917	1.0	D	0.87578	0.998	D	0.92396	0.5925	10	0.25751	T	0.34	.	11.711	0.51625	0.8677:0.0:0.0:0.1323	.	210	O95455	TGDS_HUMAN	V	210	ENSP00000261296:F210V	ENSP00000261296:F210V	F	-	1	0	TGDS	94029016	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.037000	0.57311	2.257000	0.74773	0.528000	0.53228	TTT		0.274	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		6	53	0	0	0	1	0	6	53				
DEFB126	81623	broad.mit.edu	37	20	126299	126299	+	Missense_Mutation	SNP	C	C	T	rs376573096		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:126299C>T	ENST00000382398.3	+	2	562	c.302C>T	c.(301-303)tCg>tTg	p.S101L	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	101					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TCGATGTCTTCGATGGCTCCT	0.453																																						ENST00000382398.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(301-303)tCg>tTg		defensin, beta 126		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	125.0	122.0	123.0		302	-1.0	0.0	20		123	0,8600		0,0,4300	no	missense	DEFB126	NM_030931.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	101/112	126299	1,13005	2203	4300	6503	SO:0001583	missense	81623				defense response to bacterium	extracellular region		g.chr20:126299C>T		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.302C>T	20.37:g.126299C>T	ENSP00000371835:p.Ser101Leu					DEFB126_ENST00000542572.1_3'UTR	p.S101L	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	562	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	101					Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	c.302C>T	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	C	6.189	0.402991	0.11696	2.27E-4	0.0	ENSG00000125788	ENST00000382398	T	0.37752	1.18	1.18	-1.03	0.10102	.	.	.	.	.	T	0.17280	0.0415	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.04013	0.001	T	0.18053	-1.0349	9	0.51188	T	0.08	-2.7273	2.5646	0.04780	0.0:0.4517:0.3171:0.2312	.	101	Q9BYW3	DB126_HUMAN	L	101	ENSP00000371835:S101L	ENSP00000371835:S101L	S	+	2	0	DEFB126	74299	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-4.206000	0.00274	-0.335000	0.08451	-0.273000	0.10243	TCG		0.453	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		48	73	0	0	0	1	0	48	73				
FAM83B	222584	broad.mit.edu	37	6	54806276	54806276	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:54806276C>T	ENST00000306858.7	+	5	2623	c.2507C>T	c.(2506-2508)tCg>tTg	p.S836L	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	836	Poly-Ser.									autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTTCCTCATCGAATTCTCAA	0.383																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2506-2508)tCg>tTg		family with sequence similarity 83, member B							48.0	45.0	46.0					6																	54806276		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806276C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2507C>T	6.37:g.54806276C>T	ENSP00000304078:p.Ser836Leu						p.S836L	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	2623	+	Lung NSC(77;0.0178)|Renal(3;0.122)		836			Poly-Ser.		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2507C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264750	0.23136	.	.	ENSG00000168143	ENST00000306858	T	0.09073	3.02	5.56	4.7	0.59300	.	0.195450	0.36066	N	0.002811	T	0.06645	0.0170	M	0.64997	1.995	0.21386	N	0.999703	D	0.65815	0.995	P	0.45119	0.47	T	0.04103	-1.0977	10	0.87932	D	0	-15.8173	14.7242	0.69332	0.0:0.9303:0.0:0.0697	.	836	Q5T0W9	FA83B_HUMAN	L	836	ENSP00000304078:S836L	ENSP00000304078:S836L	S	+	2	0	FAM83B	54914235	0.985000	0.35326	0.673000	0.29887	0.252000	0.25951	2.711000	0.47177	1.368000	0.46115	-0.123000	0.14984	TCG		0.383	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		12	23	0	0	0	1	0	12	23				
ENPP6	133121	broad.mit.edu	37	4	185012528	185012528	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185012528T>G	ENST00000296741.2	-	8	1266	c.1125A>C	c.(1123-1125)aaA>aaC	p.K375N		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	375					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGAAGTTGGATTTGAAATCTG	0.507																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(1123-1125)aaA>aaC		ectonucleotide pyrophosphatase/phosphodiesterase 6							78.0	79.0	79.0					4																	185012528		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185012528T>G	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1125A>C	4.37:g.185012528T>G	ENSP00000296741:p.Lys375Asn						p.K375N	NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	8	1266	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	375					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1125A>C	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935762	0.73442	.	.	ENSG00000164303	ENST00000296741	T	0.77358	-1.09	6.08	-4.09	0.03951	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.086182	0.85682	N	0.000000	T	0.74191	0.3684	M	0.82193	2.58	0.39592	D	0.969605	P	0.43314	0.803	B	0.40702	0.338	T	0.74179	-0.3749	10	0.66056	D	0.02	-19.2733	9.9513	0.41640	0.0:0.5224:0.1046:0.3729	.	375	Q6UWR7	ENPP6_HUMAN	N	375	ENSP00000296741:K375N	ENSP00000296741:K375N	K	-	3	2	ENPP6	185249522	0.531000	0.26338	0.943000	0.38184	0.965000	0.64279	-0.043000	0.12043	-0.531000	0.06340	-0.285000	0.09966	AAA		0.507	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		5	97	0	0	0	1	0	5	97				
ZNF536	9745	broad.mit.edu	37	19	31039523	31039523	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31039523A>G	ENST00000355537.3	+	4	3144	c.2997A>G	c.(2995-2997)gcA>gcG	p.A999A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	999					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCATTGCATGGCACGGCT	0.567																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2995-2997)gcA>gcG		zinc finger protein 536							74.0	70.0	72.0					19																	31039523		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039523A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2997A>G	19.37:g.31039523A>G							p.A999A	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3144	+	Esophageal squamous(110;0.0834)		999					A2RU18	Silent	SNP	ENST00000355537.3	37	c.2997A>G	CCDS32984.1																																																																																				0.567	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		45	84	0	0	0	1	0	45	84				
NT5C1B	93034	broad.mit.edu	37	2	18764226	18764226	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:18764226T>C	ENST00000359846.2	-	7	1186	c.1109A>G	c.(1108-1110)tAt>tGt	p.Y370C	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.Y370C|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.Y370C|NT5C1B_ENST00000304081.4_Missense_Mutation_p.Y310C|NT5C1B_ENST00000460052.1_5'Flank	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	370					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTCATCAGGATATAGATCACG	0.463																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(928-930)tAt>tGt		5'-nucleotidase, cytosolic IB							128.0	117.0	121.0					2																	18764226		2203	4300	6503	SO:0001583	missense	93034							g.chr2:18764226T>C	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1109A>G	2.37:g.18764226T>C	ENSP00000352904:p.Tyr370Cys					NT5C1B_ENST00000359846.2_Missense_Mutation_p.Y370C|NT5C1B_ENST00000600945.1_Missense_Mutation_p.Y370C|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.Y370C	p.Y310C	NM_033253.3	NP_150278.2					6	1029	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.929A>G	CCDS33150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.154805|4.154805	0.78114|0.78114	.|.	.|.	ENSG00000185013|ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000418427|ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	.|D	.|0.90444	.|-2.67	6.13|6.13	6.13|6.13	0.99165|0.99165	.|.	.|0.058705	.|0.64402	.|D	.|0.000001	D|D	0.95781|0.95781	0.8627|0.8627	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|0.984;0.984;0.984;0.984;1.0;0.973;0.984;0.991	D|D	0.95843|0.95843	0.8868|0.8868	5|10	.|0.56958	.|D	.|0.05	-16.0452|-16.0452	16.8061|16.8061	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|353;387;310;353;312;310;370;370	.|E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.|.;.;.;.;.;.;5NT1B_HUMAN;.	M|C	24|370;312;310;370	.|ENSP00000412639:Y312C	.|ENSP00000305979:Y310C	I|Y	-|-	3|2	3|0	NT5C1B|NT5C1B-RDH14;NT5C1B	18627707|18627707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	8.037000|8.037000	0.88933|0.88933	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	ATA|TAT		0.463	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			9	35	0	0	0	1	0	9	35				
KCNA5	3741	broad.mit.edu	37	12	5154876	5154876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:5154876C>A	ENST00000252321.3	+	1	1792	c.1563C>A	c.(1561-1563)taC>taA	p.Y521*		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	521					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	ACTTCAACTACTTCTACCACC	0.627																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1561-1563)taC>taA		potassium voltage-gated channel, shaker-related subfamily, member 5							84.0	77.0	80.0					12																	5154876		2203	4300	6503	SO:0001587	stop_gained	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154876C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1563C>A	12.37:g.5154876C>A	ENSP00000252321:p.Tyr521*						p.Y521*	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1792	+			521					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Nonsense_Mutation	SNP	ENST00000252321.3	37	c.1563C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	38	6.934726	0.97948	.	.	ENSG00000130037	ENST00000252321	.	.	.	4.94	4.03	0.46877	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4404	0.38666	0.0:0.8374:0.0:0.1626	.	.	.	.	X	521	.	ENSP00000252321:Y521X	Y	+	3	2	KCNA5	5025137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.248000	0.32827	2.563000	0.86464	0.561000	0.74099	TAC		0.627	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		26	51	1	0	2.79863e-10	1	3.42475e-10	26	51				
CNGB3	54714	broad.mit.edu	37	8	87680283	87680283	+	Nonsense_Mutation	SNP	G	G	A	rs267606739		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87680283G>A	ENST00000320005.5	-	5	654	c.607C>T	c.(607-609)Cga>Tga	p.R203*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	203			R -> Q (in ACHM3; unknown pathological significance; dbSNP:rs16916632). {ECO:0000269|PubMed:15712225}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTTTAATTCGCTTTAAGTAC	0.398																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80	GRCh37	CM001967	CNGB3	M		c.(607-609)Cga>Tga		cyclic nucleotide gated channel beta 3							238.0	227.0	231.0					8																	87680283		2203	4300	6503	SO:0001587	stop_gained	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87680283G>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.607C>T	8.37:g.87680283G>A	ENSP00000316605:p.Arg203*						p.R203*	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			5	654	-			203		R -> Q (in ACHM3; uncertain pathogenicity; dbSNP:rs16916632).			C9JA51|Q9NRE9	Nonsense_Mutation	SNP	ENST00000320005.5	37	c.607C>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852182	0.51270	.	.	ENSG00000170289	ENST00000320005	.	.	.	6.1	2.86	0.33363	.	1.625600	0.03560	N	0.226891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7592	0.34665	0.081:0.0:0.3603:0.5588	.	.	.	.	X	203	.	ENSP00000316605:R203X	R	-	1	2	CNGB3	87749399	0.022000	0.18835	0.002000	0.10522	0.017000	0.09413	0.748000	0.26305	0.799000	0.34018	0.650000	0.86243	CGA		0.398	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		45	82	0	0	0	1	0	45	82				
FAM83H	286077	broad.mit.edu	37	8	144808233	144808233	+	Missense_Mutation	SNP	T	T	C	rs370499410		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144808233T>C	ENST00000388913.3	-	5	3523	c.3398A>G	c.(3397-3399)tAc>tGc	p.Y1133C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1133					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGCGGCTGTACACGCGCTT	0.701																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3397-3399)tAc>tGc		family with sequence similarity 83, member H			CYS/TYR	0,4092		0,0,2046	18.0	21.0	20.0		3398	2.5	1.0	8		20	1,8343		0,1,4171	no	missense	FAM83H	NM_198488.3	194	0,1,6217	CC,CT,TT		0.012,0.0,0.0080	probably-damaging	1133/1180	144808233	1,12435	2046	4172	6218	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808233T>C	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3398A>G	8.37:g.144808233T>C	ENSP00000373565:p.Tyr1133Cys						p.Y1133C	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3523	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1133					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3398A>G	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	t	18.32	3.597478	0.66332	0.0	1.2E-4	ENSG00000180921	ENST00000388913	T	0.51071	0.72	4.96	2.54	0.30619	.	0.000000	0.44285	U	0.000468	T	0.32675	0.0837	L	0.34521	1.04	0.37329	D	0.909905	P	0.38992	0.653	B	0.34652	0.187	T	0.25467	-1.0131	10	0.72032	D	0.01	.	8.6592	0.34081	0.0:0.1592:0.0:0.8408	.	1133	Q6ZRV2	FA83H_HUMAN	C	1133	ENSP00000373565:Y1133C	ENSP00000373565:Y1133C	Y	-	2	0	FAM83H	144880221	1.000000	0.71417	0.987000	0.45799	0.973000	0.67179	7.897000	0.87356	0.248000	0.21435	0.454000	0.30748	TAC		0.701	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		12	26	0	0	0	1	0	12	26				
PPP1R15B	84919	broad.mit.edu	37	1	204379610	204379610	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:204379610C>T	ENST00000367188.4	-	1	1309	c.930G>A	c.(928-930)ggG>ggA	p.G310G	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	310					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GTAAATCTTGCCCCTTGTTAG	0.522																																						ENST00000367188.4																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(928-930)ggG>ggA		protein phosphatase 1, regulatory subunit 15B							159.0	160.0	160.0					1																	204379610		2203	4300	6503	SO:0001819	synonymous_variant	84919				regulation of translation			g.chr1:204379610C>T	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.930G>A	1.37:g.204379610C>T						RP11-739N20.2_ENST00000443515.1_RNA	p.G310G	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1309	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		310					Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP	ENST00000367188.4	37	c.930G>A	CCDS1445.1																																																																																				0.522	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		27	191	0	0	0	1	0	27	191				
LATS1	9113	broad.mit.edu	37	6	150001373	150001373	+	Missense_Mutation	SNP	C	C	T	rs200119992	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150001373C>T	ENST00000543571.1	-	5	2778	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	LATS1_ENST00000253339.5_Missense_Mutation_p.R744Q|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R744Q(2)|p.R744L(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GACTTGATTTCGAAGAAGAAC	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		20080	0.002		0.0	False		,,,				2504	0.0					ENST00000543571.1																			4	Substitution - Missense(4)	p.R744Q(2)|p.R744L(2)	large_intestine(2)|lung(2)	central_nervous_system(1)|lung(5)	6						c.(2230-2232)cGa>cAa		large tumor suppressor kinase 1							116.0	112.0	113.0					6																	150001373		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001373C>T	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2231G>A	6.37:g.150001373C>T	ENSP00000437550:p.Arg744Gln					LATS1_ENST00000253339.5_Missense_Mutation_p.R744Q|LATS1_ENST00000542747.1_5'UTR	p.R744Q	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2778	-		Ovarian(120;0.0164)	744			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2231G>A	CCDS34551.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	34	5.335617	0.95758	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.64803	-0.12;-0.12	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000335	T	0.59155	0.2173	N	0.16567	0.415	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.57985	-0.7716	9	.	.	.	.	19.7457	0.96251	0.0:1.0:0.0:0.0	.	744	O95835	LATS1_HUMAN	Q	744	ENSP00000437550:R744Q;ENSP00000253339:R744Q	.	R	-	2	0	LATS1	150043066	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.445000	0.80570	2.725000	0.93324	0.557000	0.71058	CGA		0.383	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		42	67	0	0	0	1	0	42	67				
DPP6	1804	broad.mit.edu	37	7	154667694	154667694	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:154667694C>T	ENST00000377770.3	+	20	2103	c.1962C>T	c.(1960-1962)ggC>ggT	p.G654G	DPP6_ENST00000332007.3_Silent_p.G592G|DPP6_ENST00000404039.1_Silent_p.G590G|DPP6_ENST00000427557.1_Silent_p.G547G			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	654					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCAGCCACGGCGCGGTGGTGG	0.647																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1768-1770)ggC>ggT		dipeptidyl-peptidase 6							29.0	36.0	33.0					7																	154667694		2076	4202	6278	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154667694C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1962C>T	7.37:g.154667694C>T						DPP6_ENST00000427557.1_Silent_p.G547G|DPP6_ENST00000377770.3_Silent_p.G654G|DPP6_ENST00000332007.3_Silent_p.G592G	p.G590G	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		20	2357	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	654						Silent	SNP	ENST00000377770.3	37	c.1770C>T																																																																																					0.647	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		13	23	0	0	0	1	0	13	23				
SP7	121340	broad.mit.edu	37	12	53722254	53722254	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53722254G>A	ENST00000536324.2	-	3	1255	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SP7_ENST00000537210.2_Silent_p.F306F|SP7_ENST00000303846.3_Silent_p.F324F	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	324					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGTTGCAGACGAAGGGCCTCT	0.617																																						ENST00000536324.2																			0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(970-972)ttC>ttT		Sp7 transcription factor							53.0	60.0	58.0					12																	53722254		2203	4300	6503	SO:0001819	synonymous_variant	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722254G>A	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.972C>T	12.37:g.53722254G>A						SP7_ENST00000303846.3_Silent_p.F324F|SP7_ENST00000537210.2_Silent_p.F306F	p.F324F	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN			3	1255	-			324					B3KY26|Q3MJ72|Q7Z718	Silent	SNP	ENST00000536324.2	37	c.972C>T	CCDS44897.1																																																																																				0.617	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			43	57	0	0	0	1	0	43	57				
FASTKD5	60493	broad.mit.edu	37	20	3127883	3127883	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3127883T>G	ENST00000380266.3	-	2	2155	c.1834A>C	c.(1834-1836)Aat>Cat	p.N612H	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	612					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TTGGCTACATTTTCAGCCGGC	0.428																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1834-1836)Aat>Cat		FAST kinase domains 5							65.0	70.0	68.0					20																	3127883		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3127883T>G	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1834A>C	20.37:g.3127883T>G	ENSP00000369618:p.Asn612His					UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.N612H	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	2155	-			612					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.1834A>C	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	T	0.913	-0.718450	0.03182	.	.	ENSG00000215251	ENST00000380266	T	0.14516	2.5	5.44	2.05	0.26809	.	0.830532	0.10473	N	0.670510	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B	0.24675	0.109	B	0.23716	0.048	T	0.39143	-0.9628	10	0.41790	T	0.15	.	4.3448	0.11127	0.1697:0.6146:0.0:0.2157	.	612	Q7L8L6	FAKD5_HUMAN	H	612	ENSP00000369618:N612H	ENSP00000369618:N612H	N	-	1	0	FASTKD5	3075883	0.000000	0.05858	0.001000	0.08648	0.191000	0.23601	0.136000	0.15974	0.205000	0.20568	0.402000	0.26972	AAT		0.428	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		40	65	0	0	0	1	0	40	65				
SYNE1	23345	broad.mit.edu	37	6	152674558	152674558	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152674558T>G	ENST00000367255.5	-	69	11694	c.11093A>C	c.(11092-11094)aAa>aCa	p.K3698T	SYNE1_ENST00000265368.4_Missense_Mutation_p.K3698T|SYNE1_ENST00000448038.1_Missense_Mutation_p.K3683T|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3669T|SYNE1_ENST00000423061.1_Missense_Mutation_p.K3683T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3698					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCAGGAATTTTATTTGTTC	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11092-11094)aAa>aCa		spectrin repeat containing, nuclear envelope 1							53.0	57.0	55.0					6																	152674558		2201	4300	6501	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152674558T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11093A>C	6.37:g.152674558T>G	ENSP00000356224:p.Lys3698Thr	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.K3683T|SYNE1_ENST00000265368.4_Missense_Mutation_p.K3698T|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3669T|SYNE1_ENST00000448038.1_Missense_Mutation_p.K3683T	p.K3698T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	69	11694	-		Ovarian(120;0.0955)	3698					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.11093A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616210	0.66672	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000007	T	0.50667	0.1629	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.51624	-0.8682	10	0.48119	T	0.1	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	3698;3698;3698;3683	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	3698;3683;3698;3683;3669	ENSP00000356224:K3698T;ENSP00000396024:K3683T;ENSP00000265368:K3698T;ENSP00000390975:K3683T;ENSP00000341887:K3669T	ENSP00000265368:K3698T	K	-	2	0	SYNE1	152716251	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.938000	0.70170	2.194000	0.70268	0.533000	0.62120	AAA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	36	0	0	0	1	0	12	36				
VPS13C	54832	broad.mit.edu	37	15	62315708	62315708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:62315708C>A	ENST00000261517.5	-	8	599	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E133*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E176*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E133*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTTGGCTTCTTTTGGCTTA	0.279																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(526-528)Gaa>Taa		vacuolar protein sorting 13 homolog C (S. cerevisiae)							29.0	29.0	29.0					15																	62315708		2168	4236	6404	SO:0001587	stop_gained	54832				protein localization			g.chr15:62315708C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.526G>T	15.37:g.62315708C>A	ENSP00000261517:p.Glu176*					VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E176*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E133*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E133*	p.E176*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			8	599	-			176			Lys-rich.			Nonsense_Mutation	SNP	ENST00000261517.5	37	c.526G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597197	0.96602	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.38	4.26	0.50523	.	0.058906	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.8945	0.63764	0.0:0.9103:0.0:0.0897	.	.	.	.	X	133;176;176;176	.	ENSP00000249837:E133X	E	-	1	0	VPS13C	60103000	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.345000	0.52182	2.527000	0.85204	0.585000	0.79938	GAA		0.279	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	9	1	0	0.000602214	1	0.000636035	5	9				
REXO1	57455	broad.mit.edu	37	19	1816537	1816537	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1816537C>T	ENST00000170168.4	-	14	3443	c.3349G>A	c.(3349-3351)Gac>Aac	p.D1117N	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1117	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACTTGTGTCGGCAAGGTCA	0.662																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(3349-3351)Gac>Aac		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							54.0	44.0	48.0					19																	1816537		2202	4300	6502	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1816537C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3349G>A	19.37:g.1816537C>T	ENSP00000170168:p.Asp1117Asn						p.D1117N	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3443	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	1117			Exonuclease.		Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.3349G>A	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	c	0.156	-1.086436	0.01873	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.30448	1.53	4.29	3.19	0.36642	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.094612	0.64402	D	0.000001	T	0.05777	0.0151	N	0.00468	-1.46	0.33311	D	0.566067	B;B;B	0.25390	0.125;0.012;0.093	B;B;B	0.25140	0.058;0.004;0.058	T	0.37056	-0.9722	10	0.02654	T	1	-39.1732	3.9678	0.09439	0.0:0.6812:0.0:0.3188	.	103;426;1117	B4DVD3;B4DWY3;Q8N1G1	.;.;REXO1_HUMAN	N	1117;389	ENSP00000170168:D1117N	ENSP00000170168:D1117N	D	-	1	0	REXO1	1767537	0.989000	0.36119	0.261000	0.24466	0.006000	0.05464	2.358000	0.44134	2.206000	0.71126	0.550000	0.68814	GAC		0.662	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		23	47	0	0	0	1	0	23	47				
SIK2	23235	broad.mit.edu	37	11	111583042	111583042	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:111583042A>G	ENST00000304987.3	+	9	1382	c.1209A>G	c.(1207-1209)gcA>gcG	p.A403A		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	403					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CATTTCCAGCATCTGGCTGTC	0.557																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1207-1209)gcA>gcG		salt-inducible kinase 2							84.0	76.0	79.0					11																	111583042		2201	4297	6498	SO:0001819	synonymous_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111583042A>G	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1209A>G	11.37:g.111583042A>G							p.A403A	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			9	1382	+			403					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.1209A>G	CCDS8347.1																																																																																				0.557	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		20	35	0	0	0	1	0	20	35				
TEX37	200523	broad.mit.edu	37	2	88828941	88828941	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:88828941C>A	ENST00000303254.3	+	4	634	c.492C>A	c.(490-492)gtC>gtA	p.V164V		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	164						nucleus (GO:0005634)											GCCATATAGTCAAGGTCCCCA	0.522																																						ENST00000303254.3																			0											c.(490-492)gtC>gtA		testis expressed 37							81.0	76.0	78.0					2																	88828941		2203	4300	6503	SO:0001819	synonymous_variant	200523							g.chr2:88828941C>A	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.492C>A	2.37:g.88828941C>A							p.V164V	NM_152670.2	NP_689883.1					4	634	+									Silent	SNP	ENST00000303254.3	37	c.492C>A	CCDS2003.1																																																																																				0.522	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		9	60	1	0	0.000673444	1	0.000709932	9	60				
ITCH	83737	broad.mit.edu	37	20	33080315	33080315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33080315G>T	ENST00000262650.6	+	24	2588	c.2452G>T	c.(2452-2454)Gaa>Taa	p.E818*	ITCH_ENST00000374864.4_Nonsense_Mutation_p.E777*|ITCH_ENST00000535650.1_Nonsense_Mutation_p.E667*			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	818	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTTTGTTAAAGAAATTGATAA	0.318																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2329-2331)Gaa>Taa		itchy E3 ubiquitin protein ligase							80.0	81.0	80.0					20																	33080315		2203	4300	6503	SO:0001587	stop_gained	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33080315G>T	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2452G>T	20.37:g.33080315G>T	ENSP00000262650:p.Glu818*					ITCH_ENST00000535650.1_Nonsense_Mutation_p.E667*|ITCH_ENST00000262650.6_Nonsense_Mutation_p.E818*	p.E777*	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			23	2542	+			818			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Nonsense_Mutation	SNP	ENST00000262650.6	37	c.2329G>T	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	40	8.331098	0.98764	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5497	0.91058	0.0:0.0:1.0:0.0	.	.	.	.	X	777;667;818	.	ENSP00000262650:E818X	E	+	1	0	ITCH	32543976	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.112000	0.94314	2.778000	0.95560	0.650000	0.86243	GAA		0.318	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			16	37	1	0	1.99824e-07	1	2.29918e-07	16	37				
GCNT2	2651	broad.mit.edu	37	6	10556716	10556716	+	Intron	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10556716C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Silent_p.I20I|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTATTTTTATCGTCTTCTCTG	0.388																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(58-60)atC>atT		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							103.0	100.0	101.0					6																	10556716		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556716C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26647C>T	6.37:g.10556716C>T						GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	p.I20I	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	477	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	21						Silent	SNP	ENST00000379597.3	37	c.60C>T	CCDS34338.1																																																																																				0.388	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		11	55	0	0	0	1	0	11	55				
DGCR8	54487	broad.mit.edu	37	22	20074084	20074084	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:20074084G>A	ENST00000351989.3	+	2	1027	c.598G>A	c.(598-600)Gat>Aat	p.D200N	MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.D200N|DGCR8_ENST00000383024.2_Missense_Mutation_p.D200N	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	200	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TGCAGTGCTCGATGAGTTAGA	0.483																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(598-600)Gat>Aat		DGCR8 microprocessor complex subunit							124.0	130.0	128.0					22																	20074084		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074084G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.598G>A	22.37:g.20074084G>A	ENSP00000263209:p.Asp200Asn					DGCR8_ENST00000407755.1_Missense_Mutation_p.D200N|DGCR8_ENST00000383024.2_Missense_Mutation_p.D200N	p.D200N	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			2	1027	+	Colorectal(54;0.0993)		200			Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.598G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603828	0.87157	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.51325	0.87;0.71;0.71	5.42	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.32530	0.975	0.80722	D	1	B;B	0.20459	0.045;0.027	B;B	0.15052	0.012;0.005	T	0.25152	-1.0140	10	0.54805	T	0.06	-12.8371	14.4252	0.67210	0.073:0.0:0.927:0.0	.	200;200	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	N	200	ENSP00000263209:D200N;ENSP00000372488:D200N;ENSP00000384726:D200N	ENSP00000263209:D200N	D	+	1	0	DGCR8	18454084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	2.826000	0.97356	0.491000	0.48974	GAT		0.483	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			46	102	0	0	0	1	0	46	102				
TTC13	79573	broad.mit.edu	37	1	231061365	231061365	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:231061365A>C	ENST00000366661.4	-	13	1493	c.1486T>G	c.(1486-1488)Tat>Gat	p.Y496D	TTC13_ENST00000366662.4_Missense_Mutation_p.Y443D|TTC13_ENST00000414259.1_Missense_Mutation_p.Y443D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	496										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAGGCTTATAACTCTCAAAA	0.403																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1486-1488)Tat>Gat		tetratricopeptide repeat domain 13							149.0	138.0	141.0					1																	231061365		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231061365A>C		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1486T>G	1.37:g.231061365A>C	ENSP00000355621:p.Tyr496Asp					TTC13_ENST00000414259.1_Missense_Mutation_p.Y443D|TTC13_ENST00000366662.4_Missense_Mutation_p.Y443D	p.Y496D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	13	1493	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	496					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1486T>G	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743478	0.89663	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.35421	1.31;1.31;1.31	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	L	0.54323	1.7	0.80722	D	1	P;D;D;D	0.76494	0.944;0.999;0.993;0.98	P;D;P;P	0.80764	0.587;0.994;0.878;0.714	T	0.56306	-0.8001	10	0.54805	T	0.06	-8.3465	16.0203	0.80478	1.0:0.0:0.0:0.0	.	421;443;443;496	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	D	496;443;443	ENSP00000355621:Y496D;ENSP00000355622:Y443D;ENSP00000416631:Y443D	ENSP00000355621:Y496D	Y	-	1	0	TTC13	229127988	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.339000	0.96797	2.186000	0.69663	0.523000	0.50628	TAT		0.403	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		31	54	0	0	0	1	0	31	54				
SETD2	29072	broad.mit.edu	37	3	47103827	47103827	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47103827C>T	ENST00000409792.3	-	14	6161	c.6119G>A	c.(6118-6120)cGa>cAa	p.R2040Q	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2040					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCCCTTCCTCGTTCAGTTGC	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6118-6120)cGa>cAa		SET domain containing 2							206.0	209.0	208.0					3																	47103827		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103827C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6119G>A	3.37:g.47103827C>T	ENSP00000386759:p.Arg2040Gln					SETD2_ENST00000492397.1_5'UTR	p.R2040Q	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6161	-		Acute lymphoblastic leukemia(5;0.0169)	2040					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6119G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627504	0.87560	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.90324	-2.65	4.77	4.77	0.60923	.	0.000000	0.42420	D	0.000710	D	0.94145	0.8122	L	0.58101	1.795	0.49483	D	0.999798	D;D	0.89917	1.0;1.0	D;P	0.71414	0.973;0.901	D	0.94532	0.7737	10	0.72032	D	0.01	.	18.3496	0.90333	0.0:1.0:0.0:0.0	.	2040;2040	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	2040	ENSP00000386759:R2040Q	ENSP00000386759:R2040Q	R	-	2	0	SETD2	47078831	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.752000	0.62176	2.639000	0.89480	0.455000	0.32223	CGA		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		58	116	0	0	0	1	0	58	116				
MUC16	94025	broad.mit.edu	37	19	9014641	9014641	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9014641T>C	ENST00000397910.4	-	31	38537	c.38334A>G	c.(38332-38334)aaA>aaG	p.K12778K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12780	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCAGGGCTTTTGGGGTCAA	0.557																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38332-38334)aaA>aaG		mucin 16, cell surface associated							79.0	64.0	68.0					19																	9014641		1826	4060	5886	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9014641T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38334A>G	19.37:g.9014641T>C							p.K12778K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			31	38537	-			12780	Missing (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38334A>G	CCDS54212.1																																																																																				0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		52	70	0	0	0	1	0	52	70				
DACH2	117154	broad.mit.edu	37	X	85404080	85404080	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85404080C>T	ENST00000373125.4	+	1	456	c.456C>T	c.(454-456)ttC>ttT	p.F152F	DACH2_ENST00000373131.1_Silent_p.F152F	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	152	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGAAAGACTTCGAAACTTTGT	0.577																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(454-456)ttC>ttT		dachshund homolog 2 (Drosophila)							44.0	44.0	44.0					X																	85404080		2203	4300	6503	SO:0001819	synonymous_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85404080C>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.456C>T	X.37:g.85404080C>T						DACH2_ENST00000373125.4_Silent_p.F152F	p.F152F	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			1	619	+			152			DACHbox-N.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	c.456C>T	CCDS14455.1																																																																																				0.577	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		15	35	0	0	0	1	0	15	35				
PKHD1L1	93035	broad.mit.edu	37	8	110504169	110504169	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110504169A>G	ENST00000378402.5	+	62	10286	c.10182A>G	c.(10180-10182)ggA>ggG	p.G3394G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3394					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGGCCAGGAACCTATCAGA	0.348										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10180-10182)ggA>ggG		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							39.0	41.0	40.0					8																	110504169		1811	4079	5890	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110504169A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10182A>G	8.37:g.110504169A>G		HNSCC(38;0.096)					p.G3394G	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		62	10286	+			3394					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10182A>G	CCDS47911.1																																																																																				0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	9	0	0	0	1	0	7	9				
CERS3	204219	broad.mit.edu	37	15	101031134	101031134	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101031134A>C	ENST00000394113.1	-	6	866	c.176T>G	c.(175-177)tTt>tGt	p.F59C	CERS3_ENST00000538112.2_Missense_Mutation_p.F59C|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.F59C			Q8IU89	CERS3_HUMAN	ceramide synthase 3	59					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGAAGCAACAAATCTACAAAA	0.313																																						ENST00000284382.4																			0											c.(175-177)tTt>tGt		ceramide synthase 3							67.0	68.0	68.0					15																	101031134		2202	4299	6501	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101031134A>C		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.176T>G	15.37:g.101031134A>C	ENSP00000377672:p.Phe59Cys					CERS3_ENST00000538112.2_Missense_Mutation_p.F59C|CERS3_ENST00000394113.1_Missense_Mutation_p.F59C|CERS3_ENST00000560944.1_Intron	p.F59C	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN			5	599	-			59					Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.176T>G	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077268	0.36662	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.69040	-0.37;-0.37	5.66	3.26	0.37387	.	0.514735	0.22937	N	0.053829	T	0.61553	0.2356	M	0.66560	2.04	0.35444	D	0.795101	B	0.12630	0.006	B	0.06405	0.002	T	0.63037	-0.6726	10	0.59425	D	0.04	-4.6526	8.4421	0.32820	0.6875:0.0:0.0:0.3125	.	59	Q8IU89	CERS3_HUMAN	C	59;70;59	ENSP00000284382:F59C;ENSP00000437640:F59C	ENSP00000284382:F59C	F	-	2	0	CERS3	98848657	1.000000	0.71417	0.633000	0.29310	0.896000	0.52359	2.760000	0.47581	0.458000	0.26988	0.533000	0.62120	TTT		0.313	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		16	25	0	0	0	1	0	16	25				
KIAA1109	84162	broad.mit.edu	37	4	123140528	123140528	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123140528G>A	ENST00000264501.4	+	21	2654	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D761N|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D761N			Q2LD37	K1109_HUMAN	KIAA1109	761					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATGTATATGGATTTTGAAGA	0.353																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(2281-2283)Gat>Aat		KIAA1109							167.0	156.0	159.0					4																	123140528		1839	4085	5924	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123140528G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2281G>A	4.37:g.123140528G>A	ENSP00000264501:p.Asp761Asn					KIAA1109_ENST00000455637.1_Missense_Mutation_p.D761N|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.D761N	p.D761N			Q2LD37	K1109_HUMAN			21	2654	+			761					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2281G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.313976|5.313976	0.95655|0.95655	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.28666|.	2.16;2.16;1.6|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.546120|.	0.17051|.	N|.	0.188920|.	T|T	0.76828|0.76828	0.4042|0.4042	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.87578|.	0.998;0.989|.	T|T	0.74315|0.74315	-0.3705|-0.3705	10|5	0.59425|.	D|.	0.04|.	.|.	20.1162|20.1162	0.97934|0.97934	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	761;761|.	Q2LD37-5;Q2LD37|.	.;K1109_HUMAN|.	N|E	761|593	ENSP00000264501:D761N;ENSP00000373390:D761N;ENSP00000389925:D761N|.	ENSP00000264501:D761N|.	D|G	+|+	1|2	0|0	KIAA1109|KIAA1109	123359978|123359978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	9.787000|9.787000	0.99055|0.99055	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	92	0	0	0	1	0	4	92				
ALOX5	240	broad.mit.edu	37	10	45936008	45936008	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:45936008G>A	ENST00000374391.2	+	8	1165	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	ALOX5_ENST00000542434.1_Missense_Mutation_p.R371Q	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	371	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.R371Q(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CACCTTCTGCGAACACATCTG	0.537																																						ENST00000374391.2																			1	Substitution - Missense(1)	p.R371Q(1)	large_intestine(1)	breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1111-1113)cGa>cAa		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						110.0	83.0	92.0					10																	45936008		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45936008G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1112G>A	10.37:g.45936008G>A	ENSP00000363512:p.Arg371Gln					ALOX5_ENST00000542434.1_Missense_Mutation_p.R371Q	p.R371Q	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			8	1165	+		Lung SC(717;0.0257)	371			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1112G>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357962	0.41801	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.78126	-1.15;-1.15	5.96	5.96	0.96718	Lipoxygenase, C-terminal (4);	0.252412	0.46145	D	0.000320	T	0.69726	0.3143	M	0.70787	2.145	0.43214	D	0.995087	P;B;B	0.45176	0.852;0.157;0.276	B;B;B	0.29176	0.099;0.031;0.038	T	0.71856	-0.4466	10	0.35671	T	0.21	-26.3567	11.2072	0.48775	0.0827:0.0:0.9173:0.0	.	371;371;371	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	Q	371	ENSP00000437634:R371Q;ENSP00000363512:R371Q	ENSP00000363512:R371Q	R	+	2	0	ALOX5	45256014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.062000	0.89475	2.833000	0.97629	0.650000	0.86243	CGA		0.537	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			17	24	0	0	0	1	0	17	24				
KIF23	9493	broad.mit.edu	37	15	69715499	69715499	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69715499C>T	ENST00000260363.4	+	7	682	c.565C>T	c.(565-567)Cga>Tga	p.R189*	KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000558585.1_5'UTR|KIF23_ENST00000352331.4_Splice_Site_p.R189*|KIF23_ENST00000559279.1_Splice_Site_p.R189*|KIF23_ENST00000395392.2_Splice_Site_p.R189*	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	189	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTTTTTTAGACGACAAGTAGA	0.373																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.e7-1		kinesin family member 23							64.0	72.0	70.0					15																	69715499		2199	4298	6497	SO:0001630	splice_region_variant	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69715499C>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.564-1C>T	15.37:g.69715499C>T						KIF23_ENST00000352331.4_Splice_Site_p.R189_splice|KIF23_ENST00000559279.1_Splice_Site_p.R189_splice|KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000558585.1_5'UTR|KIF23_ENST00000395392.2_Splice_Site_p.R189_splice	p.R189_splice	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			7	682	+			189			Kinesin-motor.		Q8WVP0	Splice_Site	SNP	ENST00000260363.4	37	c.563_splice	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	38	6.815076	0.97857	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	.	.	.	5.4	5.4	0.78164	.	0.126264	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1078	0.89526	0.0:1.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000260363:R189X	R	+	1	2	KIF23	67502553	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	3.214000	0.51161	2.680000	0.91292	0.563000	0.77884	CGA		0.373	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Nonsense_Mutation	12	30	0	0	0	1	0	12	30				
MAST2	23139	broad.mit.edu	37	1	46290212	46290212	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:46290212T>G	ENST00000361297.2	+	2	568	c.285T>G	c.(283-285)gaT>gaG	p.D95E	MAST2_ENST00000372009.2_Missense_Mutation_p.D95E	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTCAGGATGATTGTAAGTTAT	0.398																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(283-285)gaT>gaG		microtubule associated serine/threonine kinase 2							166.0	148.0	154.0					1																	46290212		1860	4096	5956	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46290212T>G	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.285T>G	1.37:g.46290212T>G	ENSP00000354671:p.Asp95Glu					MAST2_ENST00000372009.2_Missense_Mutation_p.D95E	p.D95E	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			2	568	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		95						Missense_Mutation	SNP	ENST00000361297.2	37	c.285T>G	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817044	0.50633	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.62788	0.01;-0.0	5.39	3.15	0.36227	.	0.000000	0.48286	D	0.000187	T	0.43722	0.1260	L	0.27053	0.805	0.27688	N	0.946208	B;B	0.33857	0.429;0.429	B;B	0.27608	0.081;0.081	T	0.40979	-0.9534	10	0.46703	T	0.11	-19.2367	9.9966	0.41902	0.0:0.7507:0.0:0.2493	.	95;95	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	E	95	ENSP00000354671:D95E;ENSP00000361079:D95E	ENSP00000354671:D95E	D	+	3	2	MAST2	46062799	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.479000	0.45197	1.253000	0.44018	-0.242000	0.12053	GAT		0.398	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		45	89	0	0	0	1	0	45	89				
SLCO1B3	28234	broad.mit.edu	37	12	21028325	21028325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21028325C>A	ENST00000381545.3	+	9	1103	c.884C>A	c.(883-885)tCa>tAa	p.S295*	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Nonsense_Mutation_p.S295*|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.S295*|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.S295*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	295					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)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ATTTCACTATCATTGCATGTG	0.313																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(883-885)tCa>tAa		solute carrier organic anion transporter family, member 1B3							77.0	76.0	76.0					12																	21028325		2203	4300	6503	SO:0001587	stop_gained	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028325C>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.884C>A	12.37:g.21028325C>A	ENSP00000370956:p.Ser295*					SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.S295*|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.S295*|LST3_ENST00000540229.1_Nonsense_Mutation_p.S295*	p.S295*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1103	+	Esophageal squamous(101;0.149)		295					E7EMT8|Q5JAR4	Nonsense_Mutation	SNP	ENST00000381545.3	37	c.884C>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	11.94	1.789487	0.31685	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	.	.	.	3.92	0.639	0.17747	.	3.253060	0.00589	N	0.000359	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4017	0.26967	0.302:0.4026:0.2954:0.0	.	.	.	.	X	295;295;295;119;295	.	.	S	+	2	0	SLCO1B3;RP11-545J16.1	20919592	.	.	0.000000	0.03702	0.002000	0.02628	.	.	0.283000	0.22279	0.461000	0.40582	TCA		0.313	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		4	38	1	0	0.00024832	1	0.000265255	4	38				
SLC25A5	292	broad.mit.edu	37	X	118603829	118603829	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118603829G>T	ENST00000317881.8	+	2	433	c.317G>T	c.(316-318)aGa>aTa	p.R106I	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	106					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GTGGACAAGAGAACCCAGTTT	0.517																																						ENST00000317881.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12						c.(316-318)aGa>aTa		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	Clodronate(DB00720)						106.0	105.0	105.0					X																	118603829		2203	4300	6503	SO:0001583	missense	292				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding	g.chrX:118603829G>T	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.317G>T	X.37:g.118603829G>T	ENSP00000360671:p.Arg106Ile					SLC25A5_ENST00000460013.1_3'UTR	p.R106I	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN			2	433	+			106					B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	c.317G>T	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907215	0.33628	.	.	ENSG00000005022	ENST00000317881	T	0.79141	-1.24	4.04	2.25	0.28309	Mitochondrial carrier domain (2);	0.150201	0.56097	D	0.000029	T	0.68439	0.3001	L	0.52126	1.63	0.39621	D	0.970034	B	0.19200	0.034	B	0.16289	0.015	T	0.63323	-0.6663	10	0.72032	D	0.01	.	7.0308	0.24967	0.3163:0.0:0.6837:0.0	.	106	P05141	ADT2_HUMAN	I	106	ENSP00000360671:R106I	ENSP00000360671:R106I	R	+	2	0	SLC25A5	118487857	0.983000	0.35010	0.988000	0.46212	0.991000	0.79684	1.255000	0.32909	0.301000	0.22738	0.529000	0.55759	AGA		0.517	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		51	142	1	0	1.95508e-11	1	2.43271e-11	51	142				
MYOM1	8736	broad.mit.edu	37	18	3151809	3151809	+	Missense_Mutation	SNP	C	C	T	rs373869989		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:3151809C>T	ENST00000356443.4	-	12	2059	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MYOM1_ENST00000261606.7_Missense_Mutation_p.E576K|MYOM1_ENST00000400569.3_Missense_Mutation_p.E576K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	576	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAACGACCTTCGATCAATCCA	0.507											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1726-1728)Gaa>Aaa		myomesin 1		C	LYS/GLU,LYS/GLU	0,3850		0,0,1925	92.0	90.0	91.0		1726,1726	4.9	1.0	18		91	1,8289		0,1,4144	no	missense,missense	MYOM1	NM_003803.3,NM_019856.1	56,56	0,1,6069	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging	576/1686,576/1590	3151809	1,12139	1925	4145	6070	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3151809C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1726G>A	18.37:g.3151809C>T	ENSP00000348821:p.Glu576Lys		OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609	MYOM1_ENST00000261606.7_Missense_Mutation_p.E576K|MYOM1_ENST00000400569.3_Missense_Mutation_p.E576K	p.E576K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			12	2059	-			576			Fibronectin type-III 1.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1726G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549205	0.86127	0.0	1.21E-4	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.57907	0.37;0.37;0.37	4.89	4.89	0.63831	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	M	0.76170	2.325	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75033	-0.3460	10	0.52906	T	0.07	.	18.2384	0.89958	0.0:1.0:0.0:0.0	.	576;576	P52179-2;P52179	.;MYOM1_HUMAN	K	576	ENSP00000348821:E576K;ENSP00000383413:E576K;ENSP00000261606:E576K	ENSP00000261606:E576K	E	-	1	0	MYOM1	3141809	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.638000	0.83328	2.552000	0.86080	0.655000	0.94253	GAA		0.507	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		20	39	0	0	0	1	0	20	39				
DNAH5	1767	broad.mit.edu	37	5	13753429	13753429	+	Silent	SNP	C	C	T	rs144055129		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13753429C>T	ENST00000265104.4	-	63	10889	c.10785G>A	c.(10783-10785)acG>acA	p.T3595T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3595	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGATGCCTTCGTGACAATAA	0.383									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10783-10785)acG>acA		dynein, axonemal, heavy chain 5		C		1,4405	2.1+/-5.4	0,1,2202	118.0	108.0	112.0		10785	-1.5	1.0	5	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH5	NM_001369.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		3595/4625	13753429	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753429C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10785G>A	5.37:g.13753429C>T							p.T3595T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			63	10889	-	Lung NSC(4;0.00476)		3595			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.10785G>A	CCDS3882.1																																																																																				0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		5	59	0	0	0	1	0	5	59				
RERG	85004	broad.mit.edu	37	12	15262170	15262170	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15262170C>A	ENST00000256953.2	-	5	810	c.474G>T	c.(472-474)gaG>gaT	p.E158D	RERG_ENST00000546331.1_Missense_Mutation_p.E139D|RERG_ENST00000538313.1_Missense_Mutation_p.E158D|RERG_ENST00000536465.1_Missense_Mutation_p.E158D	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	158					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CATAGAATATCTCTGTGATGT	0.537																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(472-474)gaG>gaT		RAS-like, estrogen-regulated, growth inhibitor							140.0	125.0	130.0					12																	15262170		2203	4300	6503	SO:0001583	missense	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262170C>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.474G>T	12.37:g.15262170C>A	ENSP00000256953:p.Glu158Asp					RERG_ENST00000546331.1_Missense_Mutation_p.E139D|RERG_ENST00000536465.1_Missense_Mutation_p.E158D|RERG_ENST00000538313.1_Missense_Mutation_p.E158D	p.E158D	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	810	-			158					B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	c.474G>T	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420255	0.42918	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	4.56	3.66	0.41972	Small GTP-binding protein domain (1);	0.048938	0.85682	D	0.000000	T	0.68118	0.2966	N	0.20685	0.6	0.80722	D	1	B;B	0.18461	0.028;0.014	B;B	0.31751	0.112;0.135	T	0.60172	-0.7315	10	0.15499	T	0.54	.	12.1038	0.53801	0.0:0.9101:0.0:0.0899	.	139;158	B4DI02;Q96A58	.;RERG_HUMAN	D	158;158;158;139	ENSP00000256953:E158D;ENSP00000441505:E158D;ENSP00000438280:E158D;ENSP00000444485:E139D	ENSP00000256953:E158D	E	-	3	2	RERG	15153437	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.094000	0.50227	2.526000	0.85167	0.655000	0.94253	GAG		0.537	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		46	70	1	0	3.05275e-18	1	4.13032e-18	46	70				
FAM72B	653820	broad.mit.edu	37	1	120846067	120846067	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120846067C>A	ENST00000369390.3	+	3	1132	c.303C>A	c.(301-303)ttC>ttA	p.F101L	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Missense_Mutation_p.F61L	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	101										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACGGACACTTCTGGATGTTTC	0.378																																						ENST00000369390.3																			0				large_intestine(1)|lung(2)	3						c.(301-303)ttC>ttA		family with sequence similarity 72, member B							293.0	272.0	279.0					1																	120846067		1868	4109	5977	SO:0001583	missense	653820							g.chr1:120846067C>A	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.303C>A	1.37:g.120846067C>A	ENSP00000358397:p.Phe101Leu					FAM72B_ENST00000355228.4_Missense_Mutation_p.F61L|FAM72B_ENST00000471903.2_3'UTR	p.F101L	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	3	1132	+	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	101					B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	c.303C>A	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233731	0.39498	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.32023	1.47;1.47;1.47	2.54	2.54	0.30619	.	0.000000	0.85682	U	0.000000	T	0.34948	0.0915	L	0.58428	1.81	0.52501	D	0.999951	D;B	0.67145	0.996;0.009	D;B	0.77557	0.99;0.013	T	0.07214	-1.0784	10	0.32370	T	0.25	.	10.8119	0.46551	0.0:1.0:0.0:0.0	.	101;61	Q86X60;Q86X60-2	FA72B_HUMAN;.	L	72;101;72;61	ENSP00000358397:F101L;ENSP00000392882:F72L;ENSP00000347368:F61L	ENSP00000347368:F61L	F	+	3	2	FAM72B	120647590	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.459000	0.66685	1.431000	0.47355	0.398000	0.26397	TTC		0.378	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			82	128	1	0	1.69331e-39	1	2.44455e-39	82	128				
DYRK4	8798	broad.mit.edu	37	12	4708218	4708218	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4708218G>T	ENST00000540757.2	+	7	745	c.585G>T	c.(583-585)aaG>aaT	p.K195N	DYRK4_ENST00000543431.1_Missense_Mutation_p.K195N|DYRK4_ENST00000010132.5_Missense_Mutation_p.K195N	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGTTGATGAAGAATAACAACT	0.393																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(583-585)aaG>aaT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							149.0	146.0	147.0					12																	4708218		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708218G>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.585G>T	12.37:g.4708218G>T	ENSP00000441755:p.Lys195Asn					DYRK4_ENST00000543431.1_Missense_Mutation_p.K195N|DYRK4_ENST00000010132.5_Missense_Mutation_p.K195N	p.K195N	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		7	745	+			195			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.585G>T	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597182	0.66332	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.29	3.46	0.39613	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052646	0.64402	D	0.000001	T	0.73877	0.3643	M	0.64676	1.99	0.80722	D	1	D;D;P	0.58620	0.983;0.97;0.838	P;P;P	0.59595	0.76;0.86;0.803	T	0.75889	-0.3158	10	0.87932	D	0	.	9.9193	0.41455	0.2215:0.0:0.7785:0.0	.	310;195;195	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	310;195;195;195	ENSP00000437534:K310N;ENSP00000441755:K195N;ENSP00000010132:K195N;ENSP00000439697:K195N	ENSP00000010132:K195N	K	+	3	2	DYRK4	4578479	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.778000	0.47726	1.229000	0.43630	-0.263000	0.10527	AAG		0.393	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			26	50	1	0	4.72057e-08	1	5.51616e-08	26	50				
OTUD7B	56957	broad.mit.edu	37	1	149943146	149943146	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:149943146T>G	ENST00000369135.4	-	3	413	c.119A>C	c.(118-120)gAt>gCt	p.D40A	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	40					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTGTTCAAAATCACTGAGGGC	0.473																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(118-120)gAt>gCt		OTU domain containing 7B							119.0	118.0	119.0					1																	149943146		1953	4146	6099	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149943146T>G	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.119A>C	1.37:g.149943146T>G	ENSP00000358131:p.Asp40Ala					OTUD7B_ENST00000479905.1_5'UTR	p.D40A	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		3	413	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		40					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.119A>C	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594402	0.86953	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.40756	1.02;1.27	5.19	5.19	0.71726	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54255	-0.8321	9	.	.	.	-3.542	14.0216	0.64558	0.0:0.0:0.0:1.0	.	40	Q6GQQ9	OTU7B_HUMAN	A	40	ENSP00000358131:D40A;ENSP00000408231:D40A	.	D	-	2	0	OTUD7B	148209770	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.439000	0.80444	2.177000	0.69029	0.528000	0.53228	GAT		0.473	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		5	64	0	0	0	1	0	5	64				
SPTA1	6708	broad.mit.edu	37	1	158582729	158582729	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158582729C>T	ENST00000368147.4	-	51	7192	c.7012G>A	c.(7012-7014)Gac>Aac	p.D2338N	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2338	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGTATAGTCCTCCAGTGAG	0.468																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(7012-7014)Gac>Aac		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							78.0	74.0	76.0					1																	158582729		1926	4134	6060	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158582729C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7012G>A	1.37:g.158582729C>T	ENSP00000357129:p.Asp2338Asn					SPTA1_ENST00000368147.3_Missense_Mutation_p.D2335N	p.D2338N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			51	7192	-	all_hematologic(112;0.0378)		2338			EF-hand 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.7012G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821535	0.90873	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.24908	1.83;1.83	5.39	5.39	0.77823	EF-hand-like domain (1);	0.239748	0.21595	N	0.072024	T	0.23289	0.0563	L	0.36672	1.1	0.53688	D	0.999978	B	0.30973	0.302	B	0.43536	0.423	T	0.08391	-1.0724	10	0.87932	D	0	.	17.8981	0.88895	0.0:1.0:0.0:0.0	.	2338	P02549	SPTA1_HUMAN	N	2338;2335	ENSP00000357130:D2338N;ENSP00000357129:D2335N	ENSP00000357129:D2335N	D	-	1	0	SPTA1	156849353	1.000000	0.71417	0.549000	0.28204	0.677000	0.39632	6.962000	0.76048	2.795000	0.96236	0.655000	0.94253	GAC		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		17	33	0	0	0	1	0	17	33				
LYST	1130	broad.mit.edu	37	1	235878565	235878565	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:235878565G>A	ENST00000389794.3	-	42	9894	c.9720C>T	c.(9718-9720)agC>agT	p.S3240S	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.S3240S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3240	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCACAGTGCCGCTATTGGAAT	0.463																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(9718-9720)agC>agT		lysosomal trafficking regulator							109.0	108.0	108.0					1																	235878565		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235878565G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9720C>T	1.37:g.235878565G>A						LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.S3240S	p.S3240S			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		42	9894	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3240			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.9720C>T	CCDS31062.1																																																																																				0.463	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			24	37	0	0	0	1	0	24	37				
ATP8B3	148229	broad.mit.edu	37	19	1787174	1787174	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1787174T>G	ENST00000310127.6	-	25	3319	c.3081A>C	c.(3079-3081)gaA>gaC	p.E1027D	ATP8B3_ENST00000539485.1_Missense_Mutation_p.E1037D|ATP8B3_ENST00000525591.1_Missense_Mutation_p.E990D	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1027					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACCATCCTTCATACAGGG	0.597																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3109-3111)gaA>gaC		ATPase, aminophospholipid transporter, class I, type 8B, member 3							50.0	54.0	53.0					19																	1787174		1916	4122	6038	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1787174T>G	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3081A>C	19.37:g.1787174T>G	ENSP00000311336:p.Glu1027Asp					ATP8B3_ENST00000525591.1_Missense_Mutation_p.E990D|ATP8B3_ENST00000310127.6_Missense_Mutation_p.E1027D	p.E1037D			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3344	-		Hepatocellular(1079;0.137)	1027					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3111A>C	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	T	1.846	-0.466338	0.04476	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.39056	1.1;1.1;1.1	4.25	2.11	0.27256	.	0.000000	0.85682	D	0.000000	T	0.19046	0.0457	L	0.27975	0.815	0.29559	N	0.850751	B;B	0.26635	0.028;0.155	B;B	0.25987	0.013;0.065	T	0.24048	-1.0171	10	0.02654	T	1	.	1.1602	0.01804	0.1474:0.1773:0.1519:0.5233	.	1027;990	O60423;Q7Z485	AT8B3_HUMAN;.	D	1027;1037;990	ENSP00000311336:E1027D;ENSP00000443574:E1037D;ENSP00000437115:E990D	ENSP00000311336:E1027D	E	-	3	2	ATP8B3	1738174	0.000000	0.05858	0.999000	0.59377	0.760000	0.43138	-0.977000	0.03782	0.155000	0.19261	0.459000	0.35465	GAA		0.597	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		8	14	0	0	0	1	0	8	14				
PTPN12	5782	broad.mit.edu	37	7	77230000	77230000	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77230000A>C	ENST00000248594.6	+	8	844	c.572A>C	c.(571-573)cAg>cCg	p.Q191P	PTPN12_ENST00000415482.2_Missense_Mutation_p.Q72P|PTPN12_ENST00000435495.2_Missense_Mutation_p.Q61P	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	191	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGGCTGTATCAGTTTCATTAT	0.338																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(571-573)cAg>cCg		protein tyrosine phosphatase, non-receptor type 12							110.0	92.0	98.0					7																	77230000		2203	4299	6502	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77230000A>C		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.572A>C	7.37:g.77230000A>C	ENSP00000248594:p.Gln191Pro					PTPN12_ENST00000415482.2_Missense_Mutation_p.Q72P|PTPN12_ENST00000435495.2_Missense_Mutation_p.Q61P	p.Q191P	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			8	844	+			191			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.572A>C	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.503622|4.503622	0.85176|0.85176	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000418110|ENST00000522115	T;D;D;T|.	0.85171|.	2.59;-1.95;-1.95;2.36|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88991|0.88991	0.6588|0.6588	H|H	0.98629|0.98629	4.285|4.285	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93243|0.93243	0.6628|0.6628	10|5	0.87932|.	D|.	0|.	.|.	15.6184|15.6184	0.76787|0.76787	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	191|.	Q05209|.	PTN12_HUMAN|.	P|R	191;72;72;61;72|130	ENSP00000248594:Q191P;ENSP00000392429:Q72P;ENSP00000397991:Q61P;ENSP00000392526:Q72P|.	ENSP00000248594:Q191P|.	Q|S	+|+	2|1	0|0	PTPN12|PTPN12	77067936|77067936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.281000|9.281000	0.95811|0.95811	2.090000|2.090000	0.63153|0.63153	0.455000|0.455000	0.32223|0.32223	CAG|AGT		0.338	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			3	13	0	0	0	1	0	3	13				
SLC25A13	10165	broad.mit.edu	37	7	95813664	95813664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:95813664C>A	ENST00000265631.5	-	11	1238	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	SLC25A13_ENST00000416240.2_Nonsense_Mutation_p.E369*|SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.E260*			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	368					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.E368*(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TACATGAGTTCTCCCACAAAA	0.398																																						ENST00000416240.2																			1	Substitution - Nonsense(1)	p.E368*(1)	large_intestine(1)	breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1105-1107)Gaa>Taa		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						92.0	87.0	89.0					7																	95813664		2203	4300	6503	SO:0001587	stop_gained	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95813664C>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1102G>T	7.37:g.95813664C>A	ENSP00000265631:p.Glu368*					SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.E260*|SLC25A13_ENST00000265631.5_Nonsense_Mutation_p.E368*	p.E369*	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		11	1295	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		368					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Nonsense_Mutation	SNP	ENST00000265631.5	37	c.1105G>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	40	8.093046	0.98651	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-19.4567	18.1211	0.89572	0.0:1.0:0.0:0.0	.	.	.	.	X	368;369;260	.	ENSP00000265631:E368X	E	-	1	0	SLC25A13	95651600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.583000	0.87209	0.655000	0.94253	GAA		0.398	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		6	52	1	0	0.0215528	1	0.0219788	6	52				
RYR3	6263	broad.mit.edu	37	15	34049795	34049795	+	Silent	SNP	C	C	T	rs186614396	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34049795C>T	ENST00000389232.4	+	60	8773	c.8703C>T	c.(8701-8703)gcC>gcT	p.A2901A	RYR3_ENST00000415757.3_Silent_p.A2901A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2901					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAATGGTGGCCGGGTGAGTCT	0.478													C|||	3	0.000599042	0.0	0.0014	5008	,	,		17239	0.001		0.001	False		,,,				2504	0.0					ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8701-8703)gcC>gcT		ryanodine receptor 3		C		0,3858		0,0,1929	58.0	54.0	55.0		8703	4.5	1.0	15		55	10,8296		0,10,4143	no	coding-synonymous	RYR3	NM_001036.3		0,10,6072	TT,TC,CC		0.1204,0.0,0.0822		2901/4871	34049795	10,12154	1929	4153	6082	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34049795C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8703C>T	15.37:g.34049795C>T						RYR3_ENST00000415757.3_Silent_p.A2901A	p.A2901A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	60	8773	+		all_lung(180;7.18e-09)	2901					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.8703C>T	CCDS45210.1																																																																																				0.478	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	8	0	0	0	1	0	7	8				
GRID1	2894	broad.mit.edu	37	10	87484239	87484239	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87484239A>G	ENST00000327946.7	-	11	1813	c.1728T>C	c.(1726-1728)gtT>gtC	p.V576V	GRID1_ENST00000536331.1_Silent_p.V147V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	576					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TCAGCACACCAACCACAGGGA	0.532										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1726-1728)gtT>gtC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						76.0	70.0	72.0					10																	87484239		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87484239A>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1728T>C	10.37:g.87484239A>G		Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Silent_p.V147V	p.V576V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			11	1813	-			576					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.1728T>C	CCDS31236.1																																																																																				0.532	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		24	51	0	0	0	1	0	24	51				
PCDHA7	56141	broad.mit.edu	37	5	140215942	140215942	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140215942G>A	ENST00000525929.1	+	1	1974	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S658S|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	658	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCCCTCGCTGACAGCCA	0.657																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1972-1974)tcG>tcA									56.0	60.0	59.0					5																	140215942		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140215942G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1974G>A	5.37:g.140215942G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S658S|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.S658S	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1974	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1974G>A	CCDS54918.1																																																																																				0.657	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		33	77	0	0	0	1	0	33	77				
CPNE2	221184	broad.mit.edu	37	16	57155661	57155661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57155661C>T	ENST00000535318.2	+	10	1217	c.856C>T	c.(856-858)Cga>Tga	p.R286*	CPNE2_ENST00000290776.8_Nonsense_Mutation_p.R286*|CPNE2_ENST00000537605.1_Nonsense_Mutation_p.R184*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.R286*			Q96FN4	CPNE2_HUMAN	copine II	286						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATCATCCTGCGATCCTGCAA	0.547																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(856-858)Cga>Tga		copine II							100.0	87.0	91.0					16																	57155661		2198	4300	6498	SO:0001587	stop_gained	221184							g.chr16:57155661C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.856C>T	16.37:g.57155661C>T	ENSP00000439018:p.Arg286*					CPNE2_ENST00000537605.1_Nonsense_Mutation_p.R184*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.R286*|CPNE2_ENST00000290776.8_Nonsense_Mutation_p.R286*	p.R286*			Q96FN4	CPNE2_HUMAN			10	1217	+		all_neural(199;0.224)	286					Q68D19|Q719H8|Q86XP9	Nonsense_Mutation	SNP	ENST00000535318.2	37	c.856C>T	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764578	0.89932	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	.	.	.	5.14	0.825	0.18824	.	0.256739	0.30501	N	0.009481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-14.1139	6.5582	0.22471	0.5331:0.3174:0.0:0.1495	.	.	.	.	X	286;184;286	.	ENSP00000290776:R286X	R	+	1	2	CPNE2	55713162	1.000000	0.71417	0.034000	0.17996	0.037000	0.13140	2.272000	0.43373	-0.071000	0.12886	-0.261000	0.10672	CGA		0.547	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		16	119	0	0	0	1	0	16	119				
TGM4	7047	broad.mit.edu	37	3	44955154	44955154	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44955154C>A	ENST00000296125.4	+	14	2060	c.1992C>A	c.(1990-1992)gtC>gtA	p.V664V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	664					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AATTTATCGTCAAGTTAAGTT	0.413											OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1990-1992)gtC>gtA		transglutaminase 4	L-Glutamine(DB00130)						131.0	127.0	128.0					3																	44955154		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44955154C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1992C>A	3.37:g.44955154C>A			OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	927		p.V664V	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	14	2060	+			664					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.1992C>A	CCDS2723.1																																																																																				0.413	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		8	63	1	0	0.0381472	1	0.0387537	8	63				
ZBBX	79740	broad.mit.edu	37	3	167016237	167016237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167016237C>A	ENST00000392766.2	-	18	2075	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*	ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E579*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E550*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	579						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q578fs*1(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAGGCTATTTCTTGTAACAAC	0.289																																						ENST00000392766.2																			2	Deletion - Frameshift(2)	p.Q578fs*1(2)	ovary(2)	NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1735-1737)Gaa>Taa		zinc finger, B-box domain containing							111.0	111.0	111.0					3																	167016237		1809	4063	5872	SO:0001587	stop_gained	79740					intracellular	zinc ion binding	g.chr3:167016237C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1735G>T	3.37:g.167016237C>A	ENSP00000376519:p.Glu579*					ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E579*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E550*	p.E579*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			18	2075	-			579					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	ENST00000392766.2	37	c.1735G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	38	6.670369	0.97751	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	4.9	3.03	0.35002	.	0.660669	0.15282	N	0.270613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-8.1564	7.4526	0.27248	0.0:0.7787:0.0:0.2213	.	.	.	.	X	579;579;579;579;550	.	ENSP00000305065:E579X	E	-	1	0	ZBBX	168498931	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	0.992000	0.29667	1.150000	0.42419	0.591000	0.81541	GAA		0.289	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		20	47	1	0	5.26018e-13	1	6.70247e-13	20	47				
BRINP3	339479	broad.mit.edu	37	1	190129925	190129925	+	Missense_Mutation	SNP	G	G	A	rs147790033		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:190129925G>A	ENST00000367462.3	-	7	1288	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R251C	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	353					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TCATAACGGCGCTGAAAATTA	0.353																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1057-1059)Cgc>Tgc				G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	126.0	135.0	132.0		1057	5.8	1.0	1	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM5C	NM_199051.1	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	353/767	190129925	2,13004	2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190129925G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1057C>T	1.37:g.190129925G>A	ENSP00000356432:p.Arg353Cys					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R251C	p.R353C	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			7	1288	-	Prostate(682;0.198)		353					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1057C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722973	0.68959	2.27E-4	1.16E-4	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18502	2.47;2.21	5.75	5.75	0.90469	.	0.060428	0.64402	D	0.000001	T	0.23451	0.0567	L	0.43152	1.355	0.58432	D	0.999999	D;D	0.67145	0.996;0.993	P;B	0.47573	0.55;0.446	T	0.00360	-1.1790	10	0.72032	D	0.01	.	17.4294	0.87535	0.0:0.0:1.0:0.0	.	251;353	B7Z260;Q76B58	.;FAM5C_HUMAN	C	353;251	ENSP00000356432:R353C;ENSP00000438022:R251C	ENSP00000356432:R353C	R	-	1	0	FAM5C	188396548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.164000	0.77533	2.718000	0.92993	0.573000	0.79308	CGC		0.353	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		46	44	0	0	0	1	0	46	44				
LETMD1	25875	broad.mit.edu	37	12	51442897	51442897	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51442897A>C	ENST00000262055.4	+	2	242	c.203A>C	c.(202-204)aAt>aCt	p.N68T	LETMD1_ENST00000550929.1_Missense_Mutation_p.N12T|LETMD1_ENST00000380123.2_Missense_Mutation_p.N68T|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.N68T|LETMD1_ENST00000418425.2_Missense_Mutation_p.N68T	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	68	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						AAAGCGATTAATGGGAAATAC	0.403																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(202-204)aAt>aCt		LETM1 domain containing 1							128.0	113.0	118.0					12																	51442897		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51442897A>C	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.203A>C	12.37:g.51442897A>C	ENSP00000262055:p.Asn68Thr					LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.N68T|LETMD1_ENST00000380123.2_Missense_Mutation_p.N68T|LETMD1_ENST00000547008.1_Missense_Mutation_p.N68T|LETMD1_ENST00000550929.1_Missense_Mutation_p.N12T|LETMD1_ENST00000548516.1_3'UTR	p.N68T	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			2	222	+			68			Required and sufficient for mitochondrial import.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.203A>C	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.46|19.46	3.832028|3.832028	0.71258|0.71258	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000547256|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008	.|T;T;T;T;T;T;T;T;T;T;T	.|0.62639	.|0.94;0.96;0.92;0.45;0.07;0.35;0.65;0.01;0.43;0.9;0.73	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66096|0.66096	0.2755|0.2755	L|L	0.34521|0.34521	1.04|1.04	0.46564|0.46564	D|D	0.999106|0.999106	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.996;1.0;1.0;0.996;1.0	.|D;D;D;D;D;D	.|0.87578	.|0.998;0.993;0.996;0.998;0.993;0.997	T|T	0.60000|0.60000	-0.7348|-0.7348	5|10	.|0.13853	.|T	.|0.58	-13.2876|-13.2876	12.466|12.466	0.55759|0.55759	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|68;68;68;68;68;68	.|B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0	.|.;.;.;.;.;LTMD1_HUMAN	L|T	13|35;12;68;68;68;68;68;68;75;68;68;68	.|ENSP00000446862:N35T;ENSP00000450163:N12T;ENSP00000262055:N68T;ENSP00000448110:N68T;ENSP00000449896:N68T;ENSP00000450275:N68T;ENSP00000447166:N68T;ENSP00000369466:N68T;ENSP00000450082:N75T;ENSP00000389903:N68T;ENSP00000447419:N68T	.|ENSP00000262055:N68T	M|N	+|+	1|2	0|0	LETMD1|LETMD1	49729164|49729164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	2.615000|2.615000	0.46368|0.46368	2.108000|2.108000	0.64289|0.64289	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.403	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		8	25	0	0	0	1	0	8	25				
TROVE2	6738	broad.mit.edu	37	1	193053858	193053858	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:193053858T>G	ENST00000367446.3	+	9	1824	c.1614T>G	c.(1612-1614)atT>atG	p.I538M	TROVE2_ENST00000416058.2_Missense_Mutation_p.I263M|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000432079.1_Missense_Mutation_p.I263M|TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000400968.2_Missense_Mutation_p.I538M|TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.I538M	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	538	VWFA-like domain. {ECO:0000250}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TAGATATGATTTAACCATAAG	0.418																																						ENST00000432079.1																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(787-789)atT>atG		TROVE domain family, member 2							147.0	135.0	139.0					1																	193053858		1910	4134	6044	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193053858T>G	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1614T>G	1.37:g.193053858T>G	ENSP00000356416:p.Ile538Met					TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000400968.2_Missense_Mutation_p.I538M|TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000416058.2_Missense_Mutation_p.I263M|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.I538M|TROVE2_ENST00000367446.3_Missense_Mutation_p.I538M|TROVE2_ENST00000460715.2_3'UTR	p.I263M			P10155	RO60_HUMAN			8	1357	+			538			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.789T>G	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518212	0.44763	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367441	.	.	.	5.22	4.1	0.47936	.	0.049398	0.85682	D	0.000000	T	0.65606	0.2707	L	0.55834	1.745	0.47659	D	0.999483	D	0.76494	0.999	D	0.68765	0.96	T	0.64364	-0.6425	9	0.52906	T	0.07	-15.0503	6.0604	0.19835	0.144:0.0768:0.0:0.7792	.	538	P10155	RO60_HUMAN	M	538;263;538;538	.	ENSP00000356411:I538M	I	+	3	3	TROVE2	191320481	1.000000	0.71417	0.997000	0.53966	0.339000	0.28857	0.983000	0.29552	0.821000	0.34540	0.377000	0.23210	ATT		0.418	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		10	43	0	0	0	1	0	10	43				
CACNA2D1	781	broad.mit.edu	37	7	81662189	81662189	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:81662189T>G	ENST00000356253.5	-	12	1322	c.1067A>C	c.(1066-1068)aAg>aCg	p.K356T	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K356T|MIR1255B1_ENST00000439234.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	356	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CATAATAATCTTATTGCAGTT	0.279																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1066-1068)aAg>aCg		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						67.0	69.0	68.0					7																	81662189		2203	4296	6499	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81662189T>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1067A>C	7.37:g.81662189T>G	ENSP00000348589:p.Lys356Thr					CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K356T	p.K356T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			12	1405	-			356			VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1067A>C		.	.	.	.	.	.	.	.	.	.	T	26.5	4.741794	0.89573	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.86956	-2.19;-2.19	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92847	0.6294	10	0.87932	D	0	-22.3631	15.8791	0.79189	0.0:0.0:0.0:1.0	.	356	P54289-2	.	T	356	ENSP00000349320:K356T;ENSP00000348589:K356T	ENSP00000284088:K356T	K	-	2	0	CACNA2D1	81500125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.720000	0.84759	2.160000	0.67779	0.477000	0.44152	AAG		0.279	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				4	30	0	0	0	1	0	4	30				
DNTTIP2	30836	broad.mit.edu	37	1	94342350	94342350	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94342350T>G	ENST00000436063.2	-	2	1198	c.1141A>C	c.(1141-1143)Agc>Cgc	p.S381R	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTATGGGGCTCTTTTTGTTG	0.393																																						ENST00000436063.2																			0				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38						c.(1141-1143)Agc>Cgc		deoxynucleotidyltransferase, terminal, interacting protein 2							257.0	239.0	244.0					1																	94342350		1871	4105	5976	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342350T>G	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1141A>C	1.37:g.94342350T>G	ENSP00000411010:p.Ser381Arg					DNTTIP2_ENST00000460191.1_5'UTR	p.S381R	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1198	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	381					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.1141A>C	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	T	2.546	-0.305172	0.05495	.	.	ENSG00000067334	ENST00000436063	T	0.17370	2.28	5.01	0.8	0.18672	.	0.774714	0.11943	N	0.514460	T	0.05593	0.0147	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36529	-0.9744	10	0.62326	D	0.03	.	3.5205	0.07740	0.0:0.316:0.2332:0.4508	.	381	Q5QJE6	TDIF2_HUMAN	R	381	ENSP00000411010:S381R	ENSP00000352137:S381R	S	-	1	0	DNTTIP2	94114938	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.365000	0.20348	0.251000	0.21505	0.460000	0.39030	AGC		0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		41	105	0	0	0	1	0	41	105				
LOC645752	645752	broad.mit.edu	37	15	78215280	78215280	+	lincRNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78215280C>A	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							ACCAATGATTCTATGTTTTCA	0.532																																						ENST00000567226.1																			0																																																			0							g.chr15:78215280C>A																													15.37:g.78215280C>A														0	297	-									RNA	SNP	ENST00000565869.1	37																																																																																						0.532	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			19	69	1	0	2.94398e-08	1	3.45884e-08	19	69				
ALDH1A3	220	broad.mit.edu	37	15	101432738	101432738	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101432738G>A	ENST00000329841.5	+	4	901	c.369G>A	c.(367-369)ggG>ggA	p.G123G	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	123					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	TGGATACAGGGAAGCCATTTC	0.463																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(367-369)ggG>ggA		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						162.0	157.0	159.0					15																	101432738		2203	4300	6503	SO:0001819	synonymous_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101432738G>A	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.369G>A	15.37:g.101432738G>A						ALDH1A3_ENST00000346623.6_Intron	p.G123G	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		4	901	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		123					Q6NT64	Silent	SNP	ENST00000329841.5	37	c.369G>A	CCDS10389.1																																																																																				0.463	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			45	78	0	0	0	1	0	45	78				
ZNF626	199777	broad.mit.edu	37	19	20808063	20808063	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:20808063C>T	ENST00000601440.1	-	4	766	c.620G>A	c.(619-621)gGc>gAc	p.G207D	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAGGCTTTGCCACATTCTTC	0.368																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(619-621)gGc>gAc		zinc finger protein 626							49.0	51.0	51.0					19																	20808063		2133	4273	6406	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808063C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.620G>A	19.37:g.20808063C>T	ENSP00000469958:p.Gly207Asp					CTC-513N18.7_ENST00000595094.1_lincRNA	p.G207D	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	766	-			207					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.620G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	1.937	-0.444440	0.04604	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	-0.6	0.11642	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43722	0.1260	N	0.21097	0.63	0.80722	D	1	B	0.25169	0.119	B	0.36504	0.226	T	0.16276	-1.0408	8	0.62326	D	0.03	.	6.4185	0.21730	0.0:0.7449:0.0:0.2551	.	207	Q68DY1	ZN626_HUMAN	D	207;131;207	.	ENSP00000445201:G207D	G	-	2	0	ZNF626	20599903	0.000000	0.05858	0.046000	0.18839	0.045000	0.14185	0.128000	0.15810	-1.281000	0.02399	-1.274000	0.01402	GGC		0.368	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		22	39	0	0	0	1	0	22	39				
ADRBK1	156	broad.mit.edu	37	11	67049829	67049829	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67049829G>A	ENST00000308595.5	+	12	1335	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	ADRBK1_ENST00000527176.1_Intron|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A349T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAAGCCCCATGCCAGCGTGTG	0.652																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1045-1047)Gcc>Acc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						66.0	66.0	66.0					11																	67049829		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67049829G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1045G>A	11.37:g.67049829G>A	ENSP00000312262:p.Ala349Thr					ADRBK1_ENST00000527176.1_Intron|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A349T	p.A349T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		12	1335	+			349			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1045G>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140226	0.94560	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.20598	2.06;2.06	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.19967	0.0480	N	0.03881	-0.34	0.58432	D	0.99999	B;D	0.53619	0.305;0.961	B;P	0.56343	0.12;0.796	T	0.30851	-0.9964	10	0.19147	T	0.46	-2.8766	19.5148	0.95159	0.0:0.0:1.0:0.0	.	349;349	P25098;E9PRV7	ARBK1_HUMAN;.	T	349	ENSP00000312262:A349T;ENSP00000434126:A349T	ENSP00000312262:A349T	A	+	1	0	ADRBK1	66806405	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.582000	0.82546	2.688000	0.91661	0.655000	0.94253	GCC		0.652	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		39	54	0	0	0	1	0	39	54				
STX19	415117	broad.mit.edu	37	3	93733669	93733669	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93733669A>G	ENST00000315099.2	-	2	701	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	149					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TTGTATATAAACATGATTTGC	0.378																																						ENST00000315099.2																			0				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						c.(445-447)Ttt>Ctt		syntaxin 19							151.0	144.0	147.0					3																	93733669		2203	4300	6503	SO:0001583	missense	415117				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	g.chr3:93733669A>G	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.445T>C	3.37:g.93733669A>G	ENSP00000320679:p.Phe149Leu					ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron	p.F149L	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN			2	701	-			149						Missense_Mutation	SNP	ENST00000315099.2	37	c.445T>C	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	A	6.111	0.388705	0.11581	.	.	ENSG00000178750	ENST00000315099	T	0.20598	2.06	4.76	2.26	0.28386	t-SNARE (1);	0.366126	0.28371	N	0.015589	T	0.08313	0.0207	N	0.12569	0.235	0.27345	N	0.956391	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	10	0.08599	T	0.76	-0.0695	4.8444	0.13507	0.5992:0.155:0.2458:0.0	.	149	Q8N4C7	STX19_HUMAN	L	149	ENSP00000320679:F149L	ENSP00000320679:F149L	F	-	1	0	STX19	95216359	0.973000	0.33851	0.892000	0.35008	0.960000	0.62799	1.454000	0.35178	0.360000	0.24265	0.529000	0.55759	TTT		0.378	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		6	99	0	0	0	1	0	6	99				
APOB	338	broad.mit.edu	37	2	21225596	21225596	+	Missense_Mutation	SNP	G	G	A	rs377125320		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:21225596G>A	ENST00000233242.1	-	29	12825	c.12698C>T	c.(12697-12699)tCg>tTg	p.S4233L	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4233					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGACTTTCGAATATACCTG	0.413																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(12697-12699)tCg>tTg		apolipoprotein B	Atorvastatin(DB01076)	A	LEU/SER	0,4406		0,0,2203	90.0	95.0	93.0		12698	2.7	0.0	2		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	APOB	NM_000384.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	4233/4564	21225596	1,13005	2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225596G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12698C>T	2.37:g.21225596G>A	ENSP00000233242:p.Ser4233Leu						p.S4233L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	12825	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4233					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12698C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	g	11.14	1.550105	0.27652	0.0	1.16E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00856	5.61	5.47	2.7	0.31948	.	0.657873	0.13321	N	0.396700	T	0.01189	0.0039	L	0.36672	1.1	0.09310	N	0.999996	B	0.16802	0.019	B	0.11329	0.006	T	0.46034	-0.9220	10	0.45353	T	0.12	.	11.4216	0.49985	0.2615:0.0:0.7385:0.0	.	4233	P04114	APOB_HUMAN	L	4233	ENSP00000233242:S4233L	ENSP00000233242:S4233L	S	-	2	0	APOB	21079101	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	1.167000	0.31847	0.046000	0.15833	-1.733000	0.00692	TCG		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			16	39	0	0	0	1	0	16	39				
MSTN	2660	broad.mit.edu	37	2	190922365	190922365	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:190922365C>T	ENST00000260950.4	-	3	880		c.e3-1		C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin						cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AAAACGGATTCTGTTTGAAAA	0.358																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.e3-1		myostatin							61.0	57.0	58.0					2																	190922365		2203	4299	6502	SO:0001630	splice_region_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190922365C>T	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.748-1G>A	2.37:g.190922365C>T						C2orf88_ENST00000478197.1_Intron		NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		3	880	-								A1C2J7|A1C2K0|Q6B0H2	Splice_Site	SNP	ENST00000260950.4	37		CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291501	0.59976	.	.	ENSG00000138379	ENST00000260950	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7537	0.96281	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MSTN	190630610	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.776000	0.85560	2.736000	0.93811	0.591000	0.81541	.		0.358	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259	Intron	13	43	0	0	0	1	0	13	43				
SIPA1L2	57568	broad.mit.edu	37	1	232619691	232619691	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:232619691C>T	ENST00000366630.1	-	5	2186	c.1828G>A	c.(1828-1830)Ggg>Agg	p.G610R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G610R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	610	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TAAAGGATCCCGATCTTGTGC	0.428																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1828-1830)Ggg>Agg		signal-induced proliferation-associated 1 like 2							82.0	79.0	80.0					1																	232619691		1902	4135	6037	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232619691C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1828G>A	1.37:g.232619691C>T	ENSP00000355589:p.Gly610Arg					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G610R	p.G610R			Q9P2F8	SI1L2_HUMAN			5	2186	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	610			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1828G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253781	0.95336	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.96554	-4.05;-4.05	5.65	5.65	0.86999	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98829	1.0750	10	0.87932	D	0	-37.0387	19.9142	0.97043	0.0:1.0:0.0:0.0	.	610	Q9P2F8	SI1L2_HUMAN	R	610	ENSP00000355589:G610R;ENSP00000262861:G610R	ENSP00000262861:G610R	G	-	1	0	SIPA1L2	230686314	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	GGG		0.428	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	60	0	0	0	1	0	6	60				
NR1H4	9971	broad.mit.edu	37	12	100928670	100928670	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100928670T>G	ENST00000551379.1	+	4	659	c.631T>G	c.(631-633)Ttg>Gtg	p.L211V	NR1H4_ENST00000188403.7_Missense_Mutation_p.L207V|NR1H4_ENST00000548884.1_Missense_Mutation_p.L197V|NR1H4_ENST00000549996.1_Missense_Mutation_p.L150V|NR1H4_ENST00000392986.3_Missense_Mutation_p.L201V			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	211					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TGTTTTAGGCTTGTTAACTGA	0.428																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(589-591)Ttg>Gtg		nuclear receptor subfamily 1, group H, member 4							88.0	72.0	78.0					12																	100928670		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100928670T>G	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.631T>G	12.37:g.100928670T>G	ENSP00000447149:p.Leu211Val					NR1H4_ENST00000188403.7_Missense_Mutation_p.L207V|NR1H4_ENST00000392986.3_Missense_Mutation_p.L201V|NR1H4_ENST00000551379.1_Missense_Mutation_p.L211V|NR1H4_ENST00000549996.1_Missense_Mutation_p.L150V	p.L197V	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN			6	1130	+			211					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.589T>G	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012821	0.54468	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96491	-3.84;-3.05;-4.03;-3.04;-3.84	5.64	4.49	0.54785	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.74647	2.275	0.80722	D	1	D;D;D;D;B	0.89917	0.999;1.0;0.999;0.998;0.371	D;D;D;D;B	0.91635	0.998;0.999;0.998;0.994;0.138	D	0.95201	0.8317	10	0.02654	T	1	.	9.184	0.37158	0.0:0.1581:0.0:0.8419	.	150;211;207;201;197	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	V	197;201;150;211;207	ENSP00000448506:L197V;ENSP00000376712:L201V;ENSP00000448978:L150V;ENSP00000447149:L211V;ENSP00000188403:L207V	ENSP00000188403:L207V	L	+	1	2	NR1H4	99452801	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.205000	0.42770	0.965000	0.38133	0.533000	0.62120	TTG		0.428	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		18	41	0	0	0	1	0	18	41				
EIF4E	1977	broad.mit.edu	37	4	99823086	99823086	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:99823086C>T	ENST00000450253.2	-	2	1590	c.66G>A	c.(64-66)acG>acA	p.T22T	EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000505992.1_Silent_p.T22T|EIF4E_ENST00000504432.1_Silent_p.T50T|EIF4E_ENST00000280892.6_Silent_p.T42T	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	22					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)	p.T22T(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GATTAGATTCCGTTTTCTCCT	0.388																																						ENST00000450253.2																			2	Substitution - coding silent(2)	p.T22T(2)	lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(64-66)acG>acA		eukaryotic translation initiation factor 4E							157.0	158.0	157.0					4																	99823086		2203	4299	6502	SO:0001819	synonymous_variant	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99823086C>T	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.66G>A	4.37:g.99823086C>T						EIF4E_ENST00000280892.6_Silent_p.T42T|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000504432.1_Silent_p.T50T|EIF4E_ENST00000505992.1_Silent_p.T22T	p.T22T	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	2	1590	-			22					B7Z6V1|D6RCQ6|Q96E95	Silent	SNP	ENST00000450253.2	37	c.66G>A	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	C	9.606	1.130082	0.21041	.	.	ENSG00000151247	ENST00000511644	.	.	.	5.85	1.8	0.24995	.	.	.	.	.	T	0.44052	0.1275	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	0.0528	2.595	0.04852	0.1879:0.0748:0.1908:0.5466	.	.	.	.	R	19	.	.	G	-	1	0	EIF4E	100042109	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.690000	0.25451	1.138000	0.42230	-0.311000	0.09066	GGA		0.388	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		41	88	0	0	0	1	0	41	88				
B4GALT4	8702	broad.mit.edu	37	3	118948740	118948740	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118948740C>T	ENST00000483209.1	-	3	848	c.207G>A	c.(205-207)acG>acA	p.T69T	B4GALT4_ENST00000359213.3_Silent_p.T69T|B4GALT4_ENST00000393765.2_Silent_p.T69T|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000471675.1_Silent_p.T22T|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000467604.1_Silent_p.T69T			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	69					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CTACCTTCTTCGTGGATGCTT	0.388																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(205-207)acG>acA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						145.0	134.0	138.0					3																	118948740		2203	4300	6503	SO:0001819	synonymous_variant	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118948740C>T	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.207G>A	3.37:g.118948740C>T						B4GALT4_ENST00000359213.3_Silent_p.T69T|B4GALT4_ENST00000483209.1_Silent_p.T69T|B4GALT4_ENST00000460321.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000471675.1_Silent_p.T22T|B4GALT4_ENST00000393765.2_Silent_p.T69T	p.T69T			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	598	-			69					Q68D68|Q9BSW3|Q9C078	Silent	SNP	ENST00000483209.1	37	c.207G>A	CCDS2986.1																																																																																				0.388	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		4	42	0	0	0	1	0	4	42				
HECTD4	283450	broad.mit.edu	37	12	112673048	112673048	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:112673048T>C	ENST00000430131.2	-	36	5627	c.4482A>G	c.(4480-4482)ccA>ccG	p.P1494P	HECTD4_ENST00000550722.1_Silent_p.P1770P|HECTD4_ENST00000377560.5_Silent_p.P1744P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1494					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)										CAGAAGCGGTTGGAGAAAGAA	0.423																																						ENST00000550722.1																			0											c.(5308-5310)ccA>ccG		HECT domain containing E3 ubiquitin protein ligase 4							77.0	75.0	75.0					12																	112673048		1889	4121	6010	SO:0001819	synonymous_variant	283450							g.chr12:112673048T>C	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.4482A>G	12.37:g.112673048T>C						HECTD4_ENST00000430131.2_Silent_p.P1494P|HECTD4_ENST00000377560.5_Silent_p.P1744P	p.P1770P	NM_001109662.3	NP_001103132.3					37	5705	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.5310A>G																																																																																					0.423	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		12	19	0	0	0	1	0	12	19				
CEP104	9731	broad.mit.edu	37	1	3739988	3739988	+	Splice_Site	SNP	G	G	A	rs548824624	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3739988G>A	ENST00000378230.3	-	19	2827	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	835						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGGCACTCACGGTTGCAATCC	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		18487	0.0		0.0	False		,,,				2504	0.002					ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.e19+1		centrosomal protein 104kDa							169.0	148.0	155.0					1																	3739988		2203	4300	6503	SO:0001630	splice_region_variant	9731					centriole	binding	g.chr1:3739988G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2503+1C>T	1.37:g.3739988G>A							p.P835_splice	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			19	2827	-			835					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Splice_Site	SNP	ENST00000378230.3	37	c.2503_splice	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228663	0.39399	.	.	ENSG00000116198	ENST00000378230	T	0.32515	1.45	5.68	5.68	0.88126	.	0.220883	0.37623	N	0.002006	T	0.46776	0.1410	M	0.78049	2.395	0.80722	D	1	D	0.61697	0.99	P	0.51297	0.665	T	0.46665	-0.9175	9	.	.	.	.	14.5859	0.68322	0.0:0.2582:0.7418:0.0	.	835	O60308	CE104_HUMAN	S	835	ENSP00000367476:P835S	.	P	-	1	0	CEP104	3729848	1.000000	0.71417	0.989000	0.46669	0.079000	0.17450	1.650000	0.37292	2.670000	0.90874	0.655000	0.94253	CCT		0.537	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	Missense_Mutation	32	76	0	0	0	1	0	32	76				
NES	10763	broad.mit.edu	37	1	156642319	156642319	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156642319T>C	ENST00000368223.3	-	4	1793	c.1661A>G	c.(1660-1662)cAa>cGa	p.Q554R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	554	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGTGACTCTTGAATCTCCTC	0.433																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1660-1662)cAa>cGa		nestin							59.0	65.0	63.0					1																	156642319		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642319T>C	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1661A>G	1.37:g.156642319T>C	ENSP00000357206:p.Gln554Arg						p.Q554R	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1793	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		554			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1661A>G	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.912321	0.33721	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.86164	-2.08	4.87	-2.36	0.06663	.	0.540328	0.14035	N	0.345879	T	0.69260	0.3091	M	0.77103	2.36	0.09310	N	1	B	0.26744	0.158	B	0.17098	0.017	T	0.61247	-0.7101	10	0.72032	D	0.01	.	1.4388	0.02350	0.2594:0.0831:0.2517:0.4059	.	554	P48681	NEST_HUMAN	R	554	ENSP00000357206:Q554R	ENSP00000255024:Q554R	Q	-	2	0	NES	154908943	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-0.452000	0.06787	-0.340000	0.08388	0.377000	0.23210	CAA		0.433	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		22	33	0	0	0	1	0	22	33				
GPR98	84059	broad.mit.edu	37	5	89938771	89938771	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89938771C>A	ENST00000405460.2	+	13	2562	c.2466C>A	c.(2464-2466)ttC>ttA	p.F822L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	822	Calx-beta 6. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCAATGAATTCTATGGAAACA	0.443																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2464-2466)ttC>ttA		G protein-coupled receptor 98							136.0	129.0	131.0					5																	89938771		1834	4086	5920	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89938771C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2466C>A	5.37:g.89938771C>A	ENSP00000384582:p.Phe822Leu						p.F822L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	13	2562	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	822			Calx-beta 6.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2466C>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.166553|4.166553	0.78339|0.78339	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.35236|.	1.32|.	5.16|5.16	4.3|4.3	0.51218|0.51218	Na-Ca exchanger/integrin-beta4 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51787|0.51787	0.1695|0.1695	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.44967|0.44967	-0.9293|-0.9293	10|5	0.62326|.	D|.	0.03|.	.|.	8.8774|8.8774	0.35354|0.35354	0.0:0.7814:0.0:0.2186|0.0:0.7814:0.0:0.2186	.|.	822|.	Q8WXG9|.	GPR98_HUMAN|.	L|I	822|411	ENSP00000384582:F822L|.	ENSP00000296619:F822L|.	F|L	+|+	3|1	2|2	GPR98|GPR98	89974527|89974527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.665000|1.665000	0.37449|0.37449	1.173000|1.173000	0.42796|0.42796	0.591000|0.591000	0.81541|0.81541	TTC|CTA		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		49	85	1	0	4.18559e-23	1	5.84444e-23	49	85				
ZP1	22917	broad.mit.edu	37	11	60635066	60635066	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60635066A>G	ENST00000278853.5	+	1	32	c.32A>G	c.(31-33)tAc>tGc	p.Y11C		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	11					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGGGGTTACCCTGTGGCC	0.672																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(31-33)tAc>tGc		zona pellucida glycoprotein 1 (sperm receptor)							59.0	57.0	58.0					11																	60635066		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60635066A>G	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.32A>G	11.37:g.60635066A>G	ENSP00000278853:p.Tyr11Cys						p.Y11C	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			1	32	+			11						Missense_Mutation	SNP	ENST00000278853.5	37	c.32A>G	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	A	6.697	0.497330	0.12762	.	.	ENSG00000149506	ENST00000278853	T	0.21543	2.0	3.6	-7.2	0.01495	.	2.474470	0.01641	N	0.024073	T	0.04634	0.0126	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	10	0.26408	T	0.33	1.7487	3.4119	0.07361	0.1076:0.2023:0.5044:0.1857	.	11	P60852	ZP1_HUMAN	C	11	ENSP00000278853:Y11C	ENSP00000278853:Y11C	Y	+	2	0	ZP1	60391642	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-1.479000	0.02327	-2.411000	0.00571	0.164000	0.16699	TAC		0.672	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		11	29	0	0	0	1	0	11	29				
GABRB3	2562	broad.mit.edu	37	15	26793009	26793009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:26793009C>T	ENST00000311550.5	-	9	1464	c.1353G>A	c.(1351-1353)tgG>tgA	p.W451*	GABRB3_ENST00000541819.2_Nonsense_Mutation_p.W507*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.W451*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.W380*|GABRB3_ENST00000545868.1_Nonsense_Mutation_p.W366*	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	451					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGATCCTGGACCATCTGTCTA	0.408																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1519-1521)tgG>tgA		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						127.0	105.0	112.0					15																	26793009		2203	4300	6503	SO:0001587	stop_gained	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26793009C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1353G>A	15.37:g.26793009C>T	ENSP00000308725:p.Trp451*					GABRB3_ENST00000545868.1_Nonsense_Mutation_p.W366*|GABRB3_ENST00000311550.5_Nonsense_Mutation_p.W451*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.W380*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.W451*	p.W507*			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	10	1623	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	451					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Nonsense_Mutation	SNP	ENST00000311550.5	37	c.1521G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531557	0.96446	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	.	.	.	X	451;507;451;380;366	.	ENSP00000299267:W451X	W	-	3	0	GABRB3	24344102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.707000	0.84623	2.861000	0.98227	0.655000	0.94253	TGG		0.408	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			7	68	0	0	0	1	0	7	68				
EXD2	55218	broad.mit.edu	37	14	69695675	69695675	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69695675G>A	ENST00000409018.3	+	3	604	c.476G>A	c.(475-477)gGc>gAc	p.G159D	EXD2_ENST00000409242.1_Missense_Mutation_p.G34D|EXD2_ENST00000312994.5_Missense_Mutation_p.G159D|EXD2_ENST00000409675.1_Missense_Mutation_p.G34D|EXD2_ENST00000409949.1_Missense_Mutation_p.G34D|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Missense_Mutation_p.G34D|EXD2_ENST00000449989.1_Missense_Mutation_p.G34D	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	159	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTGGCAGATGGCACCATTTTG	0.507																																						ENST00000409014.1																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(100-102)gGc>gAc		exonuclease 3'-5' domain containing 2							157.0	151.0	153.0					14																	69695675		2203	4300	6503	SO:0001583	missense	0				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69695675G>A	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.476G>A	14.37:g.69695675G>A	ENSP00000387331:p.Gly159Asp					EXD2_ENST00000409242.1_Missense_Mutation_p.G34D|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Missense_Mutation_p.G34D|EXD2_ENST00000409675.1_Missense_Mutation_p.G34D|EXD2_ENST00000409018.3_Missense_Mutation_p.G159D|EXD2_ENST00000312994.5_Missense_Mutation_p.G159D|EXD2_ENST00000449989.1_Missense_Mutation_p.G34D	p.G34D	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN			5	758	+			34			3'-5' exonuclease.		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.101G>A	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	0.529	-0.858654	0.02610	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.95	4.1	0.47936	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.498963	0.25408	N	0.030886	T	0.33089	0.0851	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.18398	-1.0338	10	0.11794	T	0.64	-6.2943	7.1297	0.25493	0.1988:0.1253:0.6759:0.0	.	159;34	G5E947;Q9NVH0	.;EXD2_HUMAN	D	159;159;34;34;34;34;159;34;34	ENSP00000387331:G159D;ENSP00000386915:G34D;ENSP00000386762:G34D;ENSP00000386632:G34D;ENSP00000386839:G34D;ENSP00000313140:G159D;ENSP00000409089:G34D;ENSP00000392177:G34D	ENSP00000193422:G159D	G	+	2	0	EXD2	68765428	0.998000	0.40836	0.994000	0.49952	0.447000	0.32167	2.364000	0.44187	0.837000	0.34925	0.563000	0.77884	GGC		0.507	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			34	56	0	0	0	1	0	34	56				
EXOSC9	5393	broad.mit.edu	37	4	122724127	122724127	+	Silent	SNP	G	G	A	rs368408281		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122724127G>A	ENST00000243498.5	+	4	447	c.339G>A	c.(337-339)tcG>tcA	p.S113S	EXOSC9_ENST00000512454.1_Silent_p.S97S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Silent_p.S113S	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	113	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TAAGAAATTCGAAGTGTATAG	0.378																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(289-291)tcG>tcA		exosome component 9		G	,	1,4405	2.1+/-5.4	0,1,2202	125.0	117.0	120.0		339,339	-6.5	0.8	4		120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	EXOSC9	NM_001034194.1,NM_005033.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	113/457,113/440	122724127	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122724127G>A	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.339G>A	4.37:g.122724127G>A						EXOSC9_ENST00000379663.3_Silent_p.S113S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Silent_p.S113S	p.S97S			Q06265	EXOS9_HUMAN			3	507	+			113			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	ENST00000243498.5	37	c.291G>A	CCDS3722.2																																																																																				0.378	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		11	29	0	0	0	1	0	11	29				
MICALL1	85377	broad.mit.edu	37	22	38329085	38329085	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:38329085C>T	ENST00000215957.6	+	13	2400	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	758	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.V758V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGCTGATGTCGAGTATGAGC	0.632																																						ENST00000215957.6																			1	Substitution - coding silent(1)	p.V758V(1)	urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(2272-2274)gtC>gtT		MICAL-like 1							63.0	64.0	64.0					22																	38329085		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38329085C>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2274C>T	22.37:g.38329085C>T						MICALL1_ENST00000402631.1_3'UTR	p.V758V	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			13	2400	+	Melanoma(58;0.045)		758					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.2274C>T	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548137	0.27652	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.54	2.25	0.28309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3725	0.55261	0.0682:0.15:0.7819:0.0	.	.	.	.	X	334	.	.	R	+	1	2	MICALL1	36659031	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	0.762000	0.26503	0.280000	0.22209	-0.179000	0.13096	CGA		0.632	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		37	58	0	0	0	1	0	37	58				
RABGAP1L	9910	broad.mit.edu	37	1	174219751	174219751	+	Missense_Mutation	SNP	G	G	T	rs530610651		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:174219751G>T	ENST00000251507.4	+	6	1030	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.D249Y	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGAAGACGATGGAAAAGG	0.383																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(856-858)Gat>Tat		RAB GTPase activating protein 1-like							132.0	129.0	130.0					1																	174219751		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174219751G>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.856G>T	1.37:g.174219751G>T	ENSP00000251507:p.Asp286Tyr					RABGAP1L_ENST00000357444.6_Missense_Mutation_p.D249Y|RABGAP1L_ENST00000367689.3_5'UTR	p.D286Y	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			6	1030	+			286					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.856G>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869643	0.72065	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.61510	0.1;2.76;0.46	5.8	3.89	0.44902	.	0.051503	0.85682	N	0.000000	T	0.71787	0.3381	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.72981	-0.4126	10	0.87932	D	0	.	11.0009	0.47604	0.0669:0.0:0.8036:0.1296	.	286;286;249	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	Y	249;286;286;286	ENSP00000350027:D249Y;ENSP00000251507:D286Y;ENSP00000403136:D286Y	ENSP00000251507:D286Y	D	+	1	0	RABGAP1L	172486374	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	9.476000	0.97823	0.774000	0.33427	0.561000	0.74099	GAT		0.383	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		15	49	1	0	1.3612e-06	1	1.53357e-06	15	49				
UGP2	7360	broad.mit.edu	37	2	64083494	64083494	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64083494G>A	ENST00000337130.5	+	2	550	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	UGP2_ENST00000445915.2_Missense_Mutation_p.R34Q|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Missense_Mutation_p.R14Q|UGP2_ENST00000394417.2_Missense_Mutation_p.R14Q	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	25				R -> L (in Ref. 1). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GAAGTCATTCGGCAAGAGCTA	0.398																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(73-75)cGg>cAg		UDP-glucose pyrophosphorylase 2							181.0	185.0	184.0					2																	64083494		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64083494G>A		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.74G>A	2.37:g.64083494G>A	ENSP00000338703:p.Arg25Gln					UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Missense_Mutation_p.R34Q|UGP2_ENST00000394417.2_Missense_Mutation_p.R14Q|UGP2_ENST00000467648.2_Missense_Mutation_p.R14Q	p.R25Q	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			2	550	+			25	R -> L (in Ref. 1).				Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.74G>A	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769632	0.69992	.	.	ENSG00000169764	ENST00000394417;ENST00000484142;ENST00000482668;ENST00000467648;ENST00000480679;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T	0.45276	0.92;0.92;2.34;0.9	6.08	5.18	0.71444	.	0.056075	0.64402	D	0.000001	T	0.30823	0.0777	L	0.29908	0.895	0.54753	D	0.999989	B;B	0.24618	0.107;0.051	B;B	0.17722	0.019;0.019	T	0.07177	-1.0786	10	0.15499	T	0.54	-26.5245	15.2685	0.73681	0.0:0.0:0.8542:0.1458	.	34;25	E7EUC7;Q16851	.;UGPA_HUMAN	Q	14;25;14;14;14;25;14;17;34;14;14;14	ENSP00000377939:R14Q;ENSP00000420793:R14Q;ENSP00000338703:R25Q;ENSP00000411803:R34Q	ENSP00000338703:R25Q	R	+	2	0	UGP2	63936998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.139000	0.71728	1.523000	0.49018	0.655000	0.94253	CGG		0.398	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		57	112	0	0	0	1	0	57	112				
VCP	7415	broad.mit.edu	37	9	35060826	35060826	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35060826A>G	ENST00000358901.6	-	12	2349	c.1454T>C	c.(1453-1455)gTc>gCc	p.V485A		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	485					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCACGTTTGACATCCTCTAG	0.547																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1453-1455)gTc>gCc		valosin containing protein							170.0	141.0	151.0					9																	35060826		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35060826A>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1454T>C	9.37:g.35060826A>G	ENSP00000351777:p.Val485Ala						p.V485A	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		12	2349	-			485					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1454T>C	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335669	0.81801	.	.	ENSG00000165280	ENST00000358901	D	0.94537	-3.45	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95037	0.8393	M	0.79926	2.475	0.80722	D	1	B	0.31174	0.311	B	0.37731	0.257	D	0.94036	0.7305	10	0.42905	T	0.14	-15.3742	15.9966	0.80256	1.0:0.0:0.0:0.0	.	485	P55072	TERA_HUMAN	A	485	ENSP00000351777:V485A	ENSP00000351777:V485A	V	-	2	0	VCP	35050826	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.179000	0.69175	0.460000	0.39030	GTC		0.547	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		37	90	0	0	0	1	0	37	90				
TLR4	7099	broad.mit.edu	37	9	120475079	120475079	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:120475079G>T	ENST00000355622.6	+	3	774	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.E185*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	225					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGCATTTAAAGAAATTAGGCT	0.373																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(673-675)Gaa>Taa		toll-like receptor 4							51.0	56.0	54.0					9																	120475079		2187	4296	6483	SO:0001587	stop_gained	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475079G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.673G>T	9.37:g.120475079G>T	ENSP00000363089:p.Glu225*					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.E185*	p.E225*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	774	+			225					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Nonsense_Mutation	SNP	ENST00000355622.6	37	c.673G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333957	0.81801	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	.	.	.	5.77	3.95	0.45737	.	0.773444	0.12285	N	0.482506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	11.2757	0.49165	0.2023:0.0:0.7977:0.0	.	.	.	.	X	185;225	.	ENSP00000363089:E225X	E	+	1	0	TLR4	119514900	0.923000	0.31300	0.025000	0.17156	0.550000	0.35303	2.036000	0.41165	0.796000	0.33947	0.655000	0.94253	GAA		0.373	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		12	45	1	0	0.00185496	1	0.00194308	12	45				
MUC4	4585	broad.mit.edu	37	3	195481210	195481210	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195481210C>T	ENST00000346145.4	-	18	2533	c.2494G>A	c.(2494-2496)Ggc>Agc	p.G832S	MUC4_ENST00000349607.4_Missense_Mutation_p.G781S|MUC4_ENST00000475231.1_Missense_Mutation_p.G5016S|MUC4_ENST00000463781.3_Missense_Mutation_p.G5068S	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1825	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGTAGCGGCCGAAGGTGCCC	0.657																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(15202-15204)Ggc>Agc		mucin 4, cell surface associated							38.0	39.0	39.0					3																	195481210		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195481210C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2494G>A	3.37:g.195481210C>T	ENSP00000304207:p.Gly832Ser					MUC4_ENST00000346145.4_Missense_Mutation_p.G832S|MUC4_ENST00000349607.4_Missense_Mutation_p.G781S|MUC4_ENST00000475231.1_Missense_Mutation_p.G5016S	p.G5068S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	19	15661	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1825					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.15202G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	18.64	3.666874	0.67814	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	D;D;D;D	0.89050	-2.46;-2.12;-2.46;-2.17	5.46	4.55	0.56014	.	0.000000	0.53938	D	0.000043	D	0.95140	0.8425	M	0.91510	3.215	0.30737	N	0.746637	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.997;0.997;0.999	D	0.93619	0.6946	10	0.87932	D	0	-23.2882	12.3037	0.54889	0.1697:0.8303:0.0:0.0	.	4940;781;832;5068;5016;1773	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	S	781;832;5068;5016;1568	ENSP00000338109:G781S;ENSP00000304207:G832S;ENSP00000417498:G5068S;ENSP00000420243:G5016S	ENSP00000304207:G832S	G	-	1	0	MUC4	196966881	0.974000	0.33945	0.485000	0.27403	0.046000	0.14306	4.436000	0.59948	1.241000	0.43820	0.450000	0.29827	GGC		0.657	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		6	55	0	0	0	1	0	6	55				
TIAM2	26230	broad.mit.edu	37	6	155458506	155458506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155458506C>T	ENST00000461783.3	+	7	2663	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	TIAM2_ENST00000360366.4_Nonsense_Mutation_p.R464*|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.R464*|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.R464*|TIAM2_ENST00000456144.1_Nonsense_Mutation_p.R464*			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	464					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAATTTCATGCGAGAGTTGGA	0.512																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1390-1392)Cga>Tga		T-cell lymphoma invasion and metastasis 2							104.0	112.0	109.0					6																	155458506		2203	4300	6503	SO:0001587	stop_gained	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155458506C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1390C>T	6.37:g.155458506C>T	ENSP00000437188:p.Arg464*					TIAM2_ENST00000360366.4_Nonsense_Mutation_p.R464*|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.R464*|TIAM2_ENST00000456144.1_Nonsense_Mutation_p.R464*|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.R464*|TIAM2_ENST00000367174.2_5'UTR	p.R464*			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2663	+		Ovarian(120;0.196)	464					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Nonsense_Mutation	SNP	ENST00000461783.3	37	c.1390C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	42	9.773442	0.99260	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	.	.	.	6.08	5.2	0.72013	.	0.060275	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7505	0.85484	0.1303:0.8697:0.0:0.0	.	.	.	.	X	464;710;464;464;464;464;464	.	ENSP00000327315:R464X	R	+	1	2	TIAM2	155500198	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	2.365000	0.44196	1.561000	0.49584	0.655000	0.94253	CGA		0.512	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		31	207	0	0	0	1	0	31	207				
ATAD2B	54454	broad.mit.edu	37	2	23980445	23980445	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:23980445C>A	ENST00000238789.5	-	25	4264	c.3921G>T	c.(3919-3921)aaG>aaT	p.K1307N	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1307						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGAAGAATCTTTTGTTCAG	0.383																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(3919-3921)aaG>aaT		ATPase family, AAA domain containing 2B							180.0	175.0	177.0					2																	23980445		1830	4091	5921	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23980445C>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3921G>T	2.37:g.23980445C>A	ENSP00000238789:p.Lys1307Asn					ATAD2B_ENST00000474583.1_5'UTR	p.K1307N	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			25	4264	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1307					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.3921G>T	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.82|10.82	1.457547|1.457547	0.26161|0.26161	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.92149|.	-2.98|.	5.27|5.27	3.29|3.29	0.37713|0.37713	.|.	1.374100|.	0.05028|.	N|.	0.474136|.	T|T	0.21962|0.21962	0.0529|0.0529	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.16129|0.16129	-1.0413|-1.0413	10|5	0.20519|.	T|.	0.43|.	.|.	4.4277|4.4277	0.11511|0.11511	0.3966:0.4848:0.0:0.1187|0.3966:0.4848:0.0:0.1187	.|.	1307;1302|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	N|I	1307;475|583	ENSP00000238789:K1307N|.	ENSP00000238789:K1307N|.	K|R	-|-	3|2	2|0	ATAD2B|ATAD2B	23833949|23833949	0.214000|0.214000	0.23563|0.23563	0.838000|0.838000	0.33150|0.33150	0.986000|0.986000	0.74619|0.74619	0.399000|0.399000	0.20916|0.20916	1.313000|1.313000	0.45069|0.45069	0.563000|0.563000	0.77884|0.77884	AAG|AGA		0.383	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		8	129	1	0	0.00621372	1	0.0064192	8	129				
DGKK	139189	broad.mit.edu	37	X	50167262	50167262	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50167262A>C	ENST00000376025.2	-	0	799							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGGTGTGCAAAGTAGAGCTT	0.403																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							153.0	133.0	140.0					X																	50167262		1884	4101	5985			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50167262A>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50167262A>C										Q5KSL6	DGKK_HUMAN			0	799	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.403	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		6	44	0	0	0	1	0	6	44				
PDS5B	23047	broad.mit.edu	37	13	33316752	33316752	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33316752T>C	ENST00000315596.10	+	23	2685	c.2499T>C	c.(2497-2499)gtT>gtC	p.V833V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	833					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAATGATGGTTCGATGGCTAC	0.308																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(2497-2499)gtT>gtC		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							113.0	103.0	106.0					13																	33316752		1829	4087	5916	SO:0001819	synonymous_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33316752T>C	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2499T>C	13.37:g.33316752T>C							p.V833V	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	23	2685	+		Lung SC(185;0.0367)	833					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	c.2499T>C	CCDS41878.1																																																																																				0.308	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		17	34	0	0	0	1	0	17	34				
KCNB1	3745	broad.mit.edu	37	20	47990349	47990349	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47990349C>T	ENST00000371741.4	-	2	1914	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	583					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TGACATACTTCGCATGTCAAT	0.522																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1747-1749)cGa>cAa		potassium voltage-gated channel, Shab-related subfamily, member 1							77.0	67.0	70.0					20																	47990349		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990349C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1748G>A	20.37:g.47990349C>T	ENSP00000360806:p.Arg583Gln						p.R583Q	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1914	-			583					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1748G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118046	0.77323	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.29917	1.55	6.07	6.07	0.98685	.	0.796712	0.11522	N	0.555635	T	0.54303	0.1850	M	0.66939	2.045	0.44469	D	0.997407	D	0.61697	0.99	P	0.57152	0.814	T	0.51212	-0.8734	10	0.72032	D	0.01	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	583	Q14721	KCNB1_HUMAN	Q	583;538	ENSP00000360806:R583Q	ENSP00000360806:R583Q	R	-	2	0	KCNB1	47423756	0.996000	0.38824	0.983000	0.44433	0.966000	0.64601	3.210000	0.51129	2.884000	0.98904	0.655000	0.94253	CGA		0.522	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		33	47	0	0	0	1	0	33	47				
ARHGAP10	79658	broad.mit.edu	37	4	148796274	148796274	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:148796274G>A	ENST00000336498.3	+	8	1044	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GTTTACAGCCGAAGGCTACCT	0.453																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(805-807)Gaa>Aaa		Rho GTPase activating protein 10							82.0	79.0	80.0					4																	148796274		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148796274G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.805G>A	4.37:g.148796274G>A	ENSP00000336923:p.Glu269Lys						p.E269K	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	8	1044	+	all_hematologic(180;0.151)	Renal(17;0.0166)	269			PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.805G>A	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948730	0.73787	.	.	ENSG00000071205	ENST00000336498	T	0.06528	3.29	4.85	4.85	0.62838	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053671	0.64402	D	0.000001	T	0.20455	0.0492	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.53450	0.726	T	0.01561	-1.1324	10	0.87932	D	0	.	17.9666	0.89101	0.0:0.0:1.0:0.0	.	269	A1A4S6	RHG10_HUMAN	K	269	ENSP00000336923:E269K	ENSP00000336923:E269K	E	+	1	0	ARHGAP10	149015724	1.000000	0.71417	0.944000	0.38274	0.002000	0.02628	8.976000	0.93442	2.377000	0.81083	0.650000	0.86243	GAA		0.453	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		5	57	0	0	0	1	0	5	57				
ABCB7	22	broad.mit.edu	37	X	74282175	74282175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:74282175C>T	ENST00000373394.3	-	14	1930	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	ABCB7_ENST00000339447.4_Silent_p.S601S|ABCB7_ENST00000253577.3_Silent_p.S642S|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	641	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTTCAGTAATCGAATCTAACG	0.353																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1924-1926)tcG>tcA		ATP-binding cassette, sub-family B (MDR/TAP), member 7							74.0	66.0	69.0					X																	74282175		2203	4300	6503	SO:0001819	synonymous_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74282175C>T	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1923G>A	X.37:g.74282175C>T						ABCB7_ENST00000373394.3_Silent_p.S641S|ABCB7_ENST00000339447.4_Silent_p.S601S	p.S642S	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			14	1950	-			641			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	37	c.1926G>A																																																																																					0.353	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		11	16	0	0	0	1	0	11	16				
TNMD	64102	broad.mit.edu	37	X	99852524	99852524	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99852524C>A	ENST00000373031.4	+	5	664	c.447C>A	c.(445-447)ttC>ttA	p.F149L	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	149	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CCACAACTTTCTTTGAACAGT	0.378																																						ENST00000373031.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						c.(445-447)ttC>ttA		tenomodulin							72.0	67.0	69.0					X																	99852524		2203	4300	6503	SO:0001583	missense	64102					integral to membrane		g.chrX:99852524C>A	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.447C>A	X.37:g.99852524C>A	ENSP00000362122:p.Phe149Leu					TNMD_ENST00000485971.1_3'UTR	p.F149L	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN			5	664	+			149			BRICHOS.		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	c.447C>A	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730685	0.30684	.	.	ENSG00000000005	ENST00000373031	T	0.77098	-1.07	5.84	3.14	0.36123	BRICHOS (2);	0.364548	0.30930	N	0.008586	T	0.66076	0.2753	L	0.32530	0.975	0.30870	N	0.732587	B	0.14805	0.011	B	0.12837	0.008	T	0.58233	-0.7672	10	0.35671	T	0.21	-22.8038	10.8193	0.46595	0.0:0.6579:0.0:0.3421	.	149	Q9H2S6	TNMD_HUMAN	L	149	ENSP00000362122:F149L	ENSP00000362122:F149L	F	+	3	2	TNMD	99739180	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	1.402000	0.34600	0.004000	0.14682	-1.225000	0.01585	TTC		0.378	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		20	33	1	0	5.03518e-11	1	6.23768e-11	20	33				
IQUB	154865	broad.mit.edu	37	7	123104994	123104994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123104994C>A	ENST00000466202.1	-	10	2227	c.1651G>T	c.(1651-1653)Gga>Tga	p.G551*	IQUB_ENST00000324698.6_Nonsense_Mutation_p.G551*|IQUB_ENST00000434450.1_Nonsense_Mutation_p.G551*	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	551					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTTTGACTCCTCTCATCATA	0.313																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(1651-1653)Gga>Tga		IQ motif and ubiquitin domain containing							144.0	159.0	154.0					7																	123104994		2203	4297	6500	SO:0001587	stop_gained	154865							g.chr7:123104994C>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1651G>T	7.37:g.123104994C>A	ENSP00000417769:p.Gly551*					IQUB_ENST00000434450.1_Nonsense_Mutation_p.G551*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.G551*	p.G551*			Q8NA54	IQUB_HUMAN			10	2227	-			551					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	ENST00000466202.1	37	c.1651G>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	38	6.746433	0.97809	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	.	.	.	5.41	5.41	0.78517	.	0.145341	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	13.8233	0.63336	0.0:0.9264:0.0:0.0736	.	.	.	.	X	551	.	ENSP00000324882:G551X	G	-	1	0	IQUB	122892230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.428000	0.52792	2.702000	0.92279	0.643000	0.83706	GGA		0.313	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		27	60	1	0	2.61193e-14	1	3.39424e-14	27	60				
BRD7	29117	broad.mit.edu	37	16	50384060	50384060	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50384060G>T	ENST00000394688.3	-	5	624	c.465C>A	c.(463-465)ttC>ttA	p.F155L	BRD7_ENST00000401491.3_5'UTR|snoU13_ENST00000459559.1_RNA|BRD7_ENST00000394689.2_Missense_Mutation_p.F155L			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	155	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GAAATGAAAAGAAAGCACTTG	0.333																																						ENST00000394688.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(463-465)ttC>ttA		bromodomain containing 7							73.0	69.0	71.0					16																	50384060		2198	4299	6497	SO:0001583	missense	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50384060G>T	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.465C>A	16.37:g.50384060G>T	ENSP00000378180:p.Phe155Leu					BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Missense_Mutation_p.F155L	p.F155L			Q9NPI1	BRD7_HUMAN			5	624	-		all_cancers(37;0.0127)	155			Bromo.		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	c.465C>A	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692846	0.88735	.	.	ENSG00000166164	ENST00000394688;ENST00000394689;ENST00000401491	T;T	0.17054	2.3;2.3	5.76	4.79	0.61399	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.39566	1.225	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.997	T	0.02047	-1.1223	10	0.72032	D	0.01	-3.5047	15.1885	0.73023	0.0688:0.0:0.9312:0.0	.	155;155	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	L	155	ENSP00000378180:F155L;ENSP00000378181:F155L	ENSP00000378180:F155L	F	-	3	2	BRD7	48941561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.978000	0.88095	2.725000	0.93324	0.591000	0.81541	TTC		0.333	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		6	29	1	0	0.0215528	1	0.0219788	6	29				
NMD3	51068	broad.mit.edu	37	3	160952642	160952642	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160952642A>G	ENST00000460469.1	+	5	940	c.485A>G	c.(484-486)aAg>aGg	p.K162R	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Splice_Site_p.K162R|NMD3_ENST00000351193.2_Splice_Site_p.K162R			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	162					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GTGAGGCAAAAGGTAATGAGA	0.398																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.e5+1		NMD3 ribosome export adaptor							174.0	166.0	169.0					3																	160952642		2203	4300	6503	SO:0001630	splice_region_variant	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160952642A>G	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.486+1A>G	3.37:g.160952642A>G						NMD3_ENST00000472947.1_Splice_Site_p.K162_splice|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Splice_Site_p.K162_splice	p.K162_splice			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		5	940	+			162					D3DNM7|Q9Y2Z6	Splice_Site	SNP	ENST00000460469.1	37	c.486_splice	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540613	0.85917	.	.	ENSG00000169251	ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469;ENST00000540137	T;T;T;T;T;T	0.52983	0.72;0.66;0.64;0.72;0.67;0.66	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	L	0.41415	1.275	0.80722	D	1	P;D	0.89917	0.737;1.0	P;D	0.91635	0.601;0.999	T	0.56565	-0.7958	9	.	.	.	-14.0199	13.862	0.63566	1.0:0.0:0.0:0.0	.	162;162	C9JA08;Q96D46	.;NMD3_HUMAN	R	162;162;162;162;162;162;42	ENSP00000419030:K162R;ENSP00000307525:K162R;ENSP00000417559:K162R;ENSP00000418908:K162R;ENSP00000419647:K162R;ENSP00000419004:K162R	.	K	+	2	0	NMD3	162435336	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.632000	0.90995	1.923000	0.55706	0.482000	0.46254	AAG		0.398	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938	Missense_Mutation	28	70	0	0	0	1	0	28	70				
UTP20	27340	broad.mit.edu	37	12	101759345	101759345	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101759345C>A	ENST00000261637.4	+	46	6241	c.6067C>A	c.(6067-6069)Cta>Ata	p.L2023I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2023					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGAATCCATTCTATTACTCAG	0.373																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6067-6069)Cta>Ata		UTP20, small subunit (SSU) processome component, homolog (yeast)							70.0	70.0	70.0					12																	101759345		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101759345C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6067C>A	12.37:g.101759345C>A	ENSP00000261637:p.Leu2023Ile						p.L2023I	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			46	6241	+			2023					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.6067C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214641	0.79352	.	.	ENSG00000120800	ENST00000261637	T	0.33865	1.39	5.92	5.03	0.67393	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	M	0.87971	2.92	0.52099	D	0.999949	D	0.89917	1.0	D	0.91635	0.999	T	0.71248	-0.4649	10	0.54805	T	0.06	-10.811	14.8667	0.70422	0.0:0.9315:0.0:0.0685	.	2023	O75691	UTP20_HUMAN	I	2023	ENSP00000261637:L2023I	ENSP00000261637:L2023I	L	+	1	2	UTP20	100283476	0.989000	0.36119	0.885000	0.34714	0.936000	0.57629	2.564000	0.45931	1.513000	0.48852	0.655000	0.94253	CTA		0.373	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		3	12	1	0	0.004672	1	0.00483628	3	12				
MTM1	4534	broad.mit.edu	37	X	149764986	149764986	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149764986G>T	ENST00000370396.2	+	3	142	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	MTM1_ENST00000543350.1_5'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.D30Y|MTM1_ENST00000542741.1_5'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	30	GRAM.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCAATCGAGATCTCACTGA	0.428																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(88-90)Gat>Tat		myotubularin 1							144.0	113.0	123.0					X																	149764986		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149764986G>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.88G>T	X.37:g.149764986G>T	ENSP00000359423:p.Asp30Tyr					MTM1_ENST00000413012.2_Missense_Mutation_p.D30Y|MTM1_ENST00000542741.1_5'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_5'UTR	p.D30Y	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			3	142	+	Acute lymphoblastic leukemia(192;6.56e-05)		30			GRAM.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.88G>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530457	0.64860	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	D;D;D	0.96265	-3.92;-3.64;-3.96	5.68	5.68	0.88126	GRAM (1);	0.414762	0.28187	N	0.016277	D	0.95617	0.8575	L	0.29908	0.895	0.80722	D	1	P;P	0.48911	0.917;0.917	P;P	0.53266	0.722;0.722	D	0.96190	0.9137	10	0.62326	D	0.03	.	17.424	0.87522	0.0:0.0:1.0:0.0	.	30;30	B7Z491;Q13496	.;MTM1_HUMAN	Y	30	ENSP00000359423:D30Y;ENSP00000400699:D30Y;ENSP00000389157:D30Y	ENSP00000359423:D30Y	D	+	1	0	MTM1	149515644	1.000000	0.71417	0.027000	0.17364	0.736000	0.42039	5.796000	0.69080	2.383000	0.81215	0.538000	0.68166	GAT		0.428	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		15	18	1	0	0.000566183	1	0.00059967	15	18				
NRAP	4892	broad.mit.edu	37	10	115389405	115389405	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115389405A>G	ENST00000359988.3	-	19	2226	c.1982T>C	c.(1981-1983)gTg>gCg	p.V661A	NRAP_ENST00000360478.3_Missense_Mutation_p.V626A|NRAP_ENST00000369358.4_Missense_Mutation_p.V669A|NRAP_ENST00000369360.3_Missense_Mutation_p.V634A	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCAGGCAGCACAGTGTATTC	0.498																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2005-2007)gTg>gCg		nebulin-related anchoring protein							134.0	119.0	124.0					10																	115389405		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115389405A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1982T>C	10.37:g.115389405A>G	ENSP00000353078:p.Val661Ala					NRAP_ENST00000360478.3_Missense_Mutation_p.V626A|NRAP_ENST00000369360.3_Missense_Mutation_p.V634A|NRAP_ENST00000359988.3_Missense_Mutation_p.V661A	p.V669A			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	19	2250	-		Colorectal(252;0.0233)|Breast(234;0.188)	661						Missense_Mutation	SNP	ENST00000359988.3	37	c.2006T>C	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.171118	0.38315	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.19	2.87	0.33458	.	0.186095	0.47093	D	0.000248	T	0.27384	0.0672	L	0.45422	1.42	0.31960	N	0.608503	B;B;B	0.22003	0.038;0.063;0.038	B;B;B	0.31946	0.097;0.138;0.066	T	0.25916	-1.0118	10	0.18710	T	0.47	.	4.8606	0.13581	0.7162:0.0:0.1474:0.1364	.	661;626;661	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	A	669;634;661;626	ENSP00000358365:V669A;ENSP00000358367:V634A;ENSP00000353078:V661A;ENSP00000353666:V626A	ENSP00000353078:V661A	V	-	2	0	NRAP	115379395	1.000000	0.71417	0.384000	0.26145	0.877000	0.50540	5.298000	0.65710	0.396000	0.25283	0.459000	0.35465	GTG		0.498	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		27	53	0	0	0	1	0	27	53				
ATP11C	286410	broad.mit.edu	37	X	138880864	138880864	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:138880864G>A	ENST00000327569.3	-	9	856	c.758C>T	c.(757-759)aCg>aTg	p.T253M	ATP11C_ENST00000359686.2_Missense_Mutation_p.T253M|ATP11C_ENST00000361648.2_Missense_Mutation_p.T253M|ATP11C_ENST00000370557.1_Missense_Mutation_p.T250M|ATP11C_ENST00000460773.1_5'Flank|ATP11C_ENST00000370543.1_Missense_Mutation_p.T253M	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	253					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTTTTTAGCGTAGCTCCTTT	0.338																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(748-750)aCg>aTg		ATPase, class VI, type 11C							65.0	60.0	62.0					X																	138880864		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138880864G>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.758C>T	X.37:g.138880864G>A	ENSP00000332756:p.Thr253Met					ATP11C_ENST00000327569.3_Missense_Mutation_p.T253M|ATP11C_ENST00000370543.1_Missense_Mutation_p.T253M|ATP11C_ENST00000359686.2_Missense_Mutation_p.T253M|ATP11C_ENST00000361648.2_Missense_Mutation_p.T253M	p.T250M			Q8NB49	AT11C_HUMAN			9	1776	-	Acute lymphoblastic leukemia(192;0.000127)		253					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.749C>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329598	0.81690	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.62	5.62	0.85841	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	L	0.58969	1.84	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.93636	0.6960	10	0.42905	T	0.14	.	17.4808	0.87672	0.0:0.0:1.0:0.0	.	253;253	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	M	250;253;253;253;253	ENSP00000359588:T250M;ENSP00000355165:T253M;ENSP00000332756:T253M;ENSP00000359574:T253M;ENSP00000352715:T253M	ENSP00000332756:T253M	T	-	2	0	ATP11C	138708530	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.411000	0.80078	2.343000	0.79666	0.594000	0.82650	ACG		0.338	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		21	39	0	0	0	1	0	21	39				
TSEN2	80746	broad.mit.edu	37	3	12571276	12571276	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12571276C>T	ENST00000284995.6	+	10	1539	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	TSEN2_ENST00000415684.1_Silent_p.I358I|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000444864.1_Silent_p.I358I|TSEN2_ENST00000383797.5_Silent_p.I367I|TSEN2_ENST00000402228.3_Silent_p.I384I|TSEN2_ENST00000314571.7_Silent_p.I358I|TSEN2_ENST00000454502.2_Silent_p.I325I	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	384					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTGTCATTATCGAGCTAGTTG	0.373																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(1072-1074)atC>atT		TSEN2 tRNA splicing endonuclease subunit							96.0	93.0	94.0					3																	12571276		2203	4300	6503	SO:0001819	synonymous_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12571276C>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.1152C>T	3.37:g.12571276C>T						C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000454502.2_Silent_p.I325I|TSEN2_ENST00000415684.1_Silent_p.I358I|TSEN2_ENST00000402228.3_Silent_p.I384I|TSEN2_ENST00000383797.5_Silent_p.I367I|TSEN2_ENST00000314571.7_Silent_p.I358I|TSEN2_ENST00000284995.6_Silent_p.I384I	p.I358I	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN			9	1461	+			384					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Silent	SNP	ENST00000284995.6	37	c.1074C>T	CCDS2611.1																																																																																				0.373	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		19	34	0	0	0	1	0	19	34				
CSPG5	10675	broad.mit.edu	37	3	47618877	47618877	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47618877G>A	ENST00000383738.2	-	2	2737	c.639C>T	c.(637-639)ttC>ttT	p.F213F	CSPG5_ENST00000456150.1_Silent_p.F75F|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Silent_p.F213F	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	213					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCAGTCCTTCGAAGTAGTCGA	0.592																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(637-639)ttC>ttT		chondroitin sulfate proteoglycan 5 (neuroglycan C)							51.0	53.0	52.0					3																	47618877		2203	4300	6503	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618877G>A	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.639C>T	3.37:g.47618877G>A						CSPG5_ENST00000264723.4_Silent_p.F213F|CSPG5_ENST00000456150.1_Silent_p.F75F	p.F213F	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	2737	-			213					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.639C>T	CCDS56253.1																																																																																				0.592	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		14	39	0	0	0	1	0	14	39				
SNTG2	54221	broad.mit.edu	37	2	1263164	1263164	+	Missense_Mutation	SNP	G	G	A	rs371971068		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:1263164G>A	ENST00000308624.5	+	13	1157	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	SNTG2_ENST00000407292.1_Missense_Mutation_p.R216Q	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	343	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)		GATTGGGTGCGAGCAGAAAGG	0.388																																						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.(1027-1029)cGa>cAa		syntrophin, gamma 2		G	GLN/ARG	0,3758		0,0,1879	110.0	106.0	108.0		1028	1.9	0.0	2		108	2,8238		0,2,4118	no	missense	SNTG2	NM_018968.3	43	0,2,5997	AA,AG,GG		0.0243,0.0,0.0167	benign	343/540	1263164	2,11996	1879	4120	5999	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1263164G>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.1028G>A	2.37:g.1263164G>A	ENSP00000311837:p.Arg343Gln					SNTG2_ENST00000407292.1_Missense_Mutation_p.R216Q	p.R343Q	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)	13	1157	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	343			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1028G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	5.407	0.260226	0.10239	0.0	2.43E-4	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69040	1.19;-0.37	4.76	1.89	0.25635	Pleckstrin homology domain (1);	0.222920	0.39759	N	0.001270	T	0.46833	0.1413	L	0.28504	0.86	0.35341	D	0.786466	B;B	0.28880	0.226;0.056	B;B	0.16722	0.016;0.002	T	0.43893	-0.9363	10	0.40728	T	0.16	.	6.7047	0.23244	0.1567:0.0:0.6998:0.1435	.	216;343	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	Q	343;216	ENSP00000311837:R343Q;ENSP00000385020:R216Q	ENSP00000311837:R343Q	R	+	2	0	SNTG2	1245764	1.000000	0.71417	0.005000	0.12908	0.005000	0.04900	2.081000	0.41596	0.079000	0.16929	-0.154000	0.13518	CGA		0.388	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		15	35	0	0	0	1	0	15	35				
SPATA20	64847	broad.mit.edu	37	17	48625670	48625670	+	Missense_Mutation	SNP	G	G	A	rs370629404		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48625670G>A	ENST00000356488.4	+	2	187	c.104G>A	c.(103-105)cGa>cAa	p.R35Q	SPATA20_ENST00000006658.6_Missense_Mutation_p.R51Q|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_5'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	35					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GACAAGGACCGAAGTGCGACG	0.647																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(151-153)cGa>cAa		spermatogenesis associated 20							97.0	88.0	91.0					17																	48625670		2203	4299	6502	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48625670G>A		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.104G>A	17.37:g.48625670G>A	ENSP00000348878:p.Arg35Gln					SPATA20_ENST00000393244.3_5'UTR|SPATA20_ENST00000356488.4_Missense_Mutation_p.R35Q|SPATA20_ENST00000511937.1_3'UTR	p.R51Q	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		3	272	+	Breast(11;1.23e-18)		35					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.152G>A	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890814	0.91889	.	.	ENSG00000006282	ENST00000006658;ENST00000356488	T;T	0.22945	1.93;1.93	4.69	4.69	0.59074	.	0.100181	0.37955	N	0.001870	T	0.35219	0.0924	N	0.19112	0.55	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	P;D;D	0.75484	0.847;0.953;0.986	T	0.18147	-1.0346	10	0.56958	D	0.05	-12.8715	14.4838	0.67603	0.0:0.0:1.0:0.0	.	35;35;51	B4DZC5;Q8TB22;Q8TB22-2	.;SPT20_HUMAN;.	Q	51;35	ENSP00000006658:R51Q;ENSP00000348878:R35Q	ENSP00000006658:R51Q	R	+	2	0	SPATA20	45980669	0.988000	0.35896	0.959000	0.39883	0.986000	0.74619	2.253000	0.43205	2.434000	0.82447	0.561000	0.74099	CGA		0.647	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		15	23	0	0	0	1	0	15	23				
CAPN13	92291	broad.mit.edu	37	2	30957322	30957322	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:30957322C>A	ENST00000295055.8	-	19	1967	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	CAPN13_ENST00000534090.2_Missense_Mutation_p.E597D	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	597					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TACCTGTATTCTCTATGGCCT	0.552																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1789-1791)gaG>gaT		calpain 13							84.0	91.0	89.0					2																	30957322		1893	4123	6016	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30957322C>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1791G>T	2.37:g.30957322C>A	ENSP00000295055:p.Glu597Asp					CAPN13_ENST00000534090.2_Missense_Mutation_p.E597D	p.E597D	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			19	1967	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		597					Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1791G>T	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	2.689	-0.273618	0.05679	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.30981	1.51;1.51	4.84	-3.06	0.05379	EF-hand-like domain (1);	1.035960	0.07574	N	0.919032	T	0.17408	0.0418	L	0.38953	1.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31668	-0.9935	10	0.30078	T	0.28	.	0.3154	0.00294	0.2786:0.2387:0.1362:0.3464	.	597	Q6MZZ7	CAN13_HUMAN	D	597	ENSP00000295055:E597D;ENSP00000431298:E597D	ENSP00000295055:E597D	E	-	3	2	CAPN13	30810826	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-0.649000	0.05384	-0.265000	0.09352	-0.493000	0.04662	GAG		0.552	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		12	19	1	0	3.07112e-06	1	3.42433e-06	12	19				
ARHGAP6	395	broad.mit.edu	37	X	11162029	11162029	+	Intron	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11162029A>G	ENST00000337414.4	-	11	3049				ARHGAP6_ENST00000380718.1_Silent_p.C749C|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000303025.6_Intron|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6						actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAAGAGCCCCACACCATGCCA	0.522											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380718.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2245-2247)tgT>tgC		Rho GTPase activating protein 6							134.0	130.0	131.0					X																	11162029		2203	4300	6503	SO:0001627	intron_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11162029A>G	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2176+70T>C	X.37:g.11162029A>G			OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	670	ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Intron	p.C749C	NM_006125.2	NP_006116.2	O43182	RHG06_HUMAN			11	3119	-			0					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.2247T>C	CCDS14140.1																																																																																				0.522	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		119	244	0	0	0	1	0	119	244				
ATAD5	79915	broad.mit.edu	37	17	29162582	29162582	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29162582A>C	ENST00000321990.4	+	2	1861	c.1483A>C	c.(1483-1485)Aac>Cac	p.N495H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	495					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCAGGCAAAAACAGAGAGGG	0.308																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(1483-1485)Aac>Cac		ATPase family, AAA domain containing 5							52.0	59.0	57.0					17																	29162582		2202	4297	6499	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162582A>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1483A>C	17.37:g.29162582A>C	ENSP00000313171:p.Asn495His					CTD-2349P21.11_ENST00000580873.1_RNA	p.N495H	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	1861	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	495					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.1483A>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	0.765	-0.768026	0.02974	.	.	ENSG00000176208	ENST00000321990	T	0.09163	3.01	5.96	2.59	0.31030	.	1.017460	0.07832	N	0.961559	T	0.23926	0.0579	M	0.64997	1.995	0.09310	N	1	D;P	0.63880	0.993;0.906	P;P	0.56700	0.804;0.459	T	0.12889	-1.0530	10	0.66056	D	0.02	.	8.8594	0.35247	0.7989:0.0:0.2011:0.0	.	495;495	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	H	495	ENSP00000313171:N495H	ENSP00000313171:N495H	N	+	1	0	ATAD5	26186708	0.508000	0.26154	0.185000	0.23176	0.184000	0.23303	1.703000	0.37846	1.072000	0.40860	0.533000	0.62120	AAC		0.308	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		23	45	0	0	0	1	0	23	45				
HSPH1	10808	broad.mit.edu	37	13	31713236	31713236	+	Missense_Mutation	SNP	T	T	G	rs376620526		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31713236T>G	ENST00000320027.5	-	15	2333	c.1989A>C	c.(1987-1989)caA>caC	p.Q663H	HSPH1_ENST00000380406.5_Missense_Mutation_p.Q622H|HSPH1_ENST00000380405.4_Missense_Mutation_p.Q619H|HSPH1_ENST00000429785.2_Missense_Mutation_p.Q482H|HSPH1_ENST00000445273.2_Missense_Mutation_p.Q665H	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	663					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCAAAAAATTTTGATGATCCT	0.363																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1987-1989)caA>caC		heat shock 105kDa/110kDa protein 1							89.0	84.0	86.0					13																	31713236		2203	4299	6502	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31713236T>G	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1989A>C	13.37:g.31713236T>G	ENSP00000318687:p.Gln663His					HSPH1_ENST00000445273.2_Missense_Mutation_p.Q665H|HSPH1_ENST00000380405.4_Missense_Mutation_p.Q619H|HSPH1_ENST00000380406.5_Missense_Mutation_p.Q622H|HSPH1_ENST00000429785.2_Missense_Mutation_p.Q482H	p.Q663H	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	15	2333	-		Lung SC(185;0.0257)	663					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.1989A>C	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843407	0.51057	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.92	-7.49	0.01355	.	0.301793	0.33092	N	0.005295	T	0.17450	0.0419	L	0.60455	1.87	0.09310	N	0.999999	B;B;P;B;B	0.37176	0.324;0.02;0.586;0.238;0.155	B;B;P;B;B	0.46419	0.393;0.139;0.516;0.21;0.218	T	0.10132	-1.0643	10	0.72032	D	0.01	-8.4796	6.7442	0.23453	0.0705:0.2542:0.1396:0.5357	.	482;622;665;619;663	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	H	663;619;622;665;482	ENSP00000318687:Q663H;ENSP00000369768:Q619H;ENSP00000369769:Q622H;ENSP00000396090:Q665H;ENSP00000388778:Q482H	ENSP00000318687:Q663H	Q	-	3	2	HSPH1	30611236	0.000000	0.05858	0.003000	0.11579	0.980000	0.70556	-3.278000	0.00529	-1.518000	0.01778	-0.182000	0.12963	CAA		0.363	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			10	26	0	0	0	1	0	10	26				
AFF3	3899	broad.mit.edu	37	2	100194797	100194797	+	Silent	SNP	G	G	A	rs142157056	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100194797G>A	ENST00000409236.2	-	16	3022	c.2910C>T	c.(2908-2910)ttC>ttT	p.F970F	AFF3_ENST00000409579.1_Silent_p.F995F|AFF3_ENST00000317233.4_Silent_p.F970F|AFF3_ENST00000356421.2_Silent_p.F995F			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	970					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACATATCATCGAAGACAAGTT	0.542													G|||	11	0.00219649	0.0	0.0	5008	,	,		19643	0.0109		0.0	False		,,,				2504	0.0					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2908-2910)ttC>ttT		AF4/FMR2 family, member 3		G	,	0,4406		0,0,2203	158.0	159.0	159.0		2985,2910	3.5	1.0	2	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	995/1252,970/1227	100194797	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100194797G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2910C>T	2.37:g.100194797G>A						AFF3_ENST00000409236.1_Silent_p.F970F|AFF3_ENST00000409579.1_Silent_p.F995F|AFF3_ENST00000356421.2_Silent_p.F995F	p.F970F	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			17	3145	-			970					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2910C>T	CCDS42723.1																																																																																				0.542	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		65	126	0	0	0	1	0	65	126				
CCNI2	645121	broad.mit.edu	37	5	132086667	132086667	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132086667C>T	ENST00000378731.1	+	4	803	c.752C>T	c.(751-753)aCg>aTg	p.T251M	SEPT8_ENST00000481030.1_5'Flank|CCNI2_ENST00000468733.1_3'UTR|SEPT8_ENST00000378719.2_3'UTR	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	251					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATATTGGGACGCCGCTGGAC	0.493																																						ENST00000378731.1																			0				haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						c.(751-753)aCg>aTg		cyclin I family, member 2							131.0	128.0	129.0					5																	132086667		2203	4300	6503	SO:0001583	missense	645121				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr5:132086667C>T	BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.752C>T	5.37:g.132086667C>T	ENSP00000368005:p.Thr251Met					CCNI2_ENST00000468733.1_3'UTR|SEPT8_ENST00000378719.2_3'UTR	p.T251M	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	803	+			251					B2RNE2|B7ZMB7|B7ZMB8	Missense_Mutation	SNP	ENST00000378731.1	37	c.752C>T	CCDS34236.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231981	0.58777	.	.	ENSG00000205089	ENST00000378731	T	0.36520	1.25	5.34	2.43	0.29744	.	0.051345	0.85682	D	0.000000	T	0.58148	0.2102	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.985;1.0;1.0	B;D;D	0.91635	0.417;0.993;0.999	T	0.58634	-0.7602	10	0.87932	D	0	.	9.9296	0.41514	0.0:0.7617:0.0:0.2383	.	252;251;251	B7ZMB7;B7ZMB8;Q6ZMN8	.;.;CCNI2_HUMAN	M	251	ENSP00000368005:T251M	ENSP00000368005:T251M	T	+	2	0	CCNI2	132114566	0.993000	0.37304	0.102000	0.21198	0.984000	0.73092	2.931000	0.48932	0.250000	0.21479	0.561000	0.74099	ACG		0.493	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132833.1	NM_001039780		32	58	0	0	0	1	0	32	58				
TRANK1	9881	broad.mit.edu	37	3	36897168	36897168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36897168C>A	ENST00000429976.2	-	12	4160	c.3913G>T	c.(3913-3915)Gaa>Taa	p.E1305*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E755*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E755*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1305							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GATTTTATTTCTTTCCAAATC	0.458																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(3913-3915)Gaa>Taa		tetratricopeptide repeat and ankyrin repeat containing 1							135.0	131.0	132.0					3																	36897168		1843	4097	5940	SO:0001587	stop_gained	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897168C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3913G>T	3.37:g.36897168C>A	ENSP00000416168:p.Glu1305*					TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E755*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E755*	p.E1305*			O15050	TRNK1_HUMAN			12	4160	-			1305					Q8N8K0	Nonsense_Mutation	SNP	ENST00000429976.2	37	c.3913G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	42	9.324343	0.99137	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.6889	0.95989	0.0:1.0:0.0:0.0	.	.	.	.	X	755;1305;755	.	ENSP00000301807:E755X	E	-	1	0	TRANK1	36872172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.025000	0.70864	2.735000	0.93741	0.561000	0.74099	GAA		0.458	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		16	114	1	0	2.23348e-06	1	2.50077e-06	16	114				
FAM217A	222826	broad.mit.edu	37	6	4073522	4073522	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:4073522T>C	ENST00000274673.3	-	6	692	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	97																	TTCTCTATGGTACTTCCTTCA	0.308																																						ENST00000274673.3																			0											c.(289-291)Acc>Gcc		family with sequence similarity 217, member A							89.0	91.0	90.0					6																	4073522		2202	4300	6502	SO:0001583	missense	222826							g.chr6:4073522T>C	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.289A>G	6.37:g.4073522T>C	ENSP00000274673:p.Thr97Ala					FAM217A_ENST00000380188.2_5'UTR	p.T97A	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			6	692	-			97					Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.289A>G	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023746	0.35701	.	.	ENSG00000145975	ENST00000274673;ENST00000470599;ENST00000498677	T	0.16743	2.32	5.05	1.23	0.21249	.	0.262146	0.27198	N	0.020472	T	0.04272	0.0118	L	0.34521	1.04	0.09310	N	1	P	0.47106	0.89	B	0.42495	0.389	T	0.27673	-1.0067	10	0.56958	D	0.05	-0.0048	4.0613	0.09839	0.0:0.1868:0.178:0.6352	.	97	Q8IXS0	CF146_HUMAN	A	97;225;34	ENSP00000274673:T97A	ENSP00000274673:T97A	T	-	1	0	C6orf146	4018521	0.000000	0.05858	0.000000	0.03702	0.612000	0.37316	-0.438000	0.06905	0.064000	0.16427	0.383000	0.25322	ACC		0.308	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		20	37	0	0	0	1	0	20	37				
CDC27	996	broad.mit.edu	37	17	45216210	45216210	+	Silent	SNP	A	A	C	rs62075659		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318																																						ENST00000066544.3																			2	Substitution - coding silent(2)	p.V533V(1)|p.V539V(1)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1597-1599)gtT>gtG		cell division cycle 27							36.0	40.0	39.0					17																	45216210		2200	4297	6497	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45216210A>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1599T>G	17.37:g.45216210A>C						CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000527547.1_Silent_p.V532V|CDC27_ENST00000446365.2_Silent_p.V472V	p.V533V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			13	1692	-			533					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1599T>G	CCDS11509.1																																																																																				0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	32	0	0	0	1	0	3	32				
ATXN3L	92552	broad.mit.edu	37	X	13337601	13337601	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:13337601G>T	ENST00000380622.2	-	1	917	c.453C>A	c.(451-453)ttC>ttA	p.F151L	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	151	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.F151L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATCGAGCCAAGAAATTTGCAA	0.398																																						ENST00000380622.2																			1	Substitution - Missense(1)	p.F151L(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(451-453)ttC>ttA		ataxin 3-like							67.0	62.0	64.0					X																	13337601		1568	3582	5150	SO:0001583	missense	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337601G>T		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.453C>A	X.37:g.13337601G>T	ENSP00000369996:p.Phe151Leu					GS1-600G8.3_ENST00000431486.1_RNA	p.F151L	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN			1	917	-			151			Josephin.		B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	c.453C>A	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478045	0.26511	.	.	ENSG00000123594	ENST00000380622	T	0.50813	0.73	0.661	0.661	0.17874	.	0.090728	0.85682	D	0.000000	T	0.48660	0.1512	M	0.78916	2.43	0.51767	D	0.999934	B	0.29716	0.255	B	0.37780	0.258	T	0.50783	-0.8787	10	0.62326	D	0.03	.	6.936	0.24466	1.0E-4:0.0:0.9999:0.0	.	151	Q9H3M9	ATX3L_HUMAN	L	151	ENSP00000369996:F151L	ENSP00000369996:F151L	F	-	3	2	ATXN3L	13247522	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	1.154000	0.31688	0.579000	0.29504	0.422000	0.28245	TTC		0.398	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		17	17	1	0	1.5739e-10	1	1.93697e-10	17	17				
SNAPIN	23557	broad.mit.edu	37	1	153632005	153632005	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:153632005G>A	ENST00000368685.5	+	3	362	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ILF2_ENST00000480213.1_5'Flank|SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	91	Interaction with TOR1A.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)	p.R91L(1)		lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCGGCGACGCGTTGTCTTG	0.443																																						ENST00000368685.5																			1	Substitution - Missense(1)	p.R91L(1)	lung(1)	lung(3)	3						c.(271-273)cGc>cAc		SNAP-associated protein							129.0	129.0	129.0					1																	153632005		2203	4300	6503	SO:0001583	missense	23557				intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding	g.chr1:153632005G>A	AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17145	protein-coding gene	gene with protein product	"""snapin"", ""SNAP-25-binding protein"", ""biogenesis of lysosomal organelles complex-1, subunit 7"""	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.272G>A	1.37:g.153632005G>A	ENSP00000357674:p.Arg91His					SNAPIN_ENST00000478558.1_3'UTR	p.R91H	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	362	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		91					D3DV56|Q5SXU8	Missense_Mutation	SNP	ENST00000368685.5	37	c.272G>A	CCDS1049.1	.	.	.	.	.	.	.	.	.	.	G	35	5.571320	0.96553	.	.	ENSG00000143553	ENST00000368685	T	0.58210	0.35	5.65	5.65	0.86999	.	0.055326	0.64402	D	0.000001	T	0.63640	0.2528	M	0.74881	2.28	0.49213	D	0.999765	D	0.71674	0.998	P	0.58077	0.832	T	0.66143	-0.5997	10	0.72032	D	0.01	-13.2129	17.2626	0.87075	0.0:0.0:1.0:0.0	.	91	O95295	SNAPN_HUMAN	H	91	ENSP00000357674:R91H	ENSP00000357674:R91H	R	+	2	0	SNAPIN	151898629	1.000000	0.71417	0.289000	0.24876	0.921000	0.55340	8.802000	0.91910	2.941000	0.99782	0.655000	0.94253	CGC		0.443	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		26	47	0	0	0	1	0	26	47				
CAMTA2	23125	broad.mit.edu	37	17	4873207	4873207	+	Missense_Mutation	SNP	C	C	T	rs184255864	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4873207C>T	ENST00000348066.3	-	18	3302	c.3179G>A	c.(3178-3180)cGa>cAa	p.R1060Q	CAMTA2_ENST00000381311.5_Missense_Mutation_p.R1062Q|SPAG7_ENST00000206020.3_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Missense_Mutation_p.R1059Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R1060Q|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R1065Q|SPAG7_ENST00000573366.1_5'Flank|SPAG7_ENST00000575142.1_5'Flank|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R1083Q	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1060	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTGTACTTTCGGAAGGCCGT	0.547													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20629	0.0		0.0	False		,,,				2504	0.0					ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(3175-3177)cGa>cAa		calmodulin binding transcription activator 2							138.0	127.0	131.0					17																	4873207		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4873207C>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3179G>A	17.37:g.4873207C>T	ENSP00000321813:p.Arg1060Gln					CAMTA2_ENST00000572543.1_Missense_Mutation_p.R1065Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R1083Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R1060Q|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R1062Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.R1060Q	p.R1059Q	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			17	3587	-			1060			IQ 1.		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.3176G>A	CCDS11063.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.88	3.909192	0.72868	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.73047	1.51;-0.71;0.37;-0.71;0.4	4.74	4.74	0.60224	.	0.075779	0.51477	D	0.000084	T	0.74450	0.3718	L	0.27053	0.805	0.47511	D	0.999446	B;D;B;D	0.89917	0.041;1.0;0.002;1.0	B;D;B;D	0.66847	0.002;0.947;0.001;0.947	T	0.77885	-0.2421	10	0.72032	D	0.01	-3.7448	15.3153	0.74069	0.0:1.0:0.0:0.0	.	1083;1062;1060;1059	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	Q	1083;1062;1059;1060;1060	ENSP00000412886:R1083Q;ENSP00000370712:R1062Q;ENSP00000354828:R1059Q;ENSP00000350910:R1060Q;ENSP00000321813:R1060Q	ENSP00000321813:R1060Q	R	-	2	0	CAMTA2	4813931	1.000000	0.71417	0.968000	0.41197	0.824000	0.46624	7.596000	0.82721	2.484000	0.83849	0.555000	0.69702	CGA		0.547	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		89	134	0	0	0	1	0	89	134				
HECTD1	25831	broad.mit.edu	37	14	31614112	31614112	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31614112A>C	ENST00000399332.1	-	16	3020	c.2532T>G	c.(2530-2532)caT>caG	p.H844Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.H844Q|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	844					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGCTTTAAAATGGTCATCGT	0.343																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(2530-2532)caT>caG		HECT domain containing E3 ubiquitin protein ligase 1							75.0	71.0	72.0					14																	31614112		1868	4102	5970	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31614112A>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2532T>G	14.37:g.31614112A>C	ENSP00000382269:p.His844Gln					HECTD1_ENST00000553700.1_Missense_Mutation_p.H844Q	p.H844Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	16	3020	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		844					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2532T>G	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017625	0.75161	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.74106	0.81;0.81;1.31;-0.81	5.54	4.66	0.58398	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.72334	0.3447	N	0.19112	0.55	0.58432	D	0.999996	D;P	0.54601	0.967;0.932	P;P	0.60886	0.522;0.88	T	0.74931	-0.3496	10	0.87932	D	0	-6.2031	9.006	0.36111	0.2357:0.0:0.7643:0.0	.	844;844	D3DS86;Q9ULT8	.;HECD1_HUMAN	Q	844;844;844;318;844	ENSP00000450697:H844Q;ENSP00000382269:H844Q;ENSP00000451860:H318Q;ENSP00000452015:H844Q	ENSP00000261312:H844Q	H	-	3	2	HECTD1	30683863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.966000	0.40481	1.345000	0.45676	-0.147000	0.13772	CAT		0.343	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			15	18	0	0	0	1	0	15	18				
SLCO2A1	6578	broad.mit.edu	37	3	133666229	133666229	+	Missense_Mutation	SNP	C	C	T	rs201539847	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133666229C>T	ENST00000310926.4	-	9	1439	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R313H	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	389					lipid transport (GO:0006869)|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)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GAAAACAAAGCGCTTCATGAG	0.512													C|||	25	0.00499201	0.0	0.0	5008	,	,		18374	0.0		0.0	False		,,,				2504	0.0256					ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1165-1167)cGc>cAc		solute carrier organic anion transporter family, member 2A1							119.0	108.0	111.0					3																	133666229		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133666229C>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1166G>A	3.37:g.133666229C>T	ENSP00000311291:p.Arg389His					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R313H	p.R389H	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			9	1439	-			389					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1166G>A	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390561	0.62066	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.66638	-0.22;-0.22	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.058231	0.64402	D	0.000004	D	0.85225	0.5648	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	D	0.87000	0.2116	10	0.87932	D	0	.	19.8737	0.96861	0.0:1.0:0.0:0.0	.	208;313;389	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	H	389;313	ENSP00000311291:R389H;ENSP00000418893:R313H	ENSP00000311291:R389H	R	-	2	0	SLCO2A1	135148919	0.999000	0.42202	0.965000	0.40720	0.694000	0.40290	4.659000	0.61504	2.687000	0.91594	0.655000	0.94253	CGC		0.512	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		16	44	0	0	0	1	0	16	44				
ADCY10	55811	broad.mit.edu	37	1	167844384	167844384	+	Missense_Mutation	SNP	C	C	T	rs559581965		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167844384C>T	ENST00000367851.4	-	13	1631	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	ADCY10_ENST00000367848.1_Missense_Mutation_p.D391N|ADCY10_ENST00000545172.1_Missense_Mutation_p.D330N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	483					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.D483N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAGGGTAATCCTCCTTTCTG	0.393																																						ENST00000367848.1																			1	Substitution - Missense(1)	p.D483N(1)	lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1171-1173)Gat>Aat		adenylate cyclase 10 (soluble)							111.0	105.0	107.0					1																	167844384		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167844384C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1447G>A	1.37:g.167844384C>T	ENSP00000356825:p.Asp483Asn					ADCY10_ENST00000545172.1_Missense_Mutation_p.D330N|ADCY10_ENST00000367851.4_Missense_Mutation_p.D483N	p.D391N			Q96PN6	ADCYA_HUMAN			13	1668	-			483			Guanylate cyclase 2.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1171G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	0.381	-0.928607	0.02359	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.30448	1.53;1.53;1.53	6.03	-3.28	0.05033	.	1.184050	0.05782	N	0.608796	T	0.02649	0.0080	N	0.04508	-0.205	0.23168	N	0.998184	B;B;B	0.34015	0.435;0.241;0.156	B;B;B	0.29785	0.107;0.069;0.023	T	0.20840	-1.0263	9	0.17369	T	0.5	0.2935	1.524	0.02521	0.1153:0.3121:0.2254:0.3472	.	330;391;483	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	N	330;483;391	ENSP00000441992:D330N;ENSP00000356825:D483N;ENSP00000356822:D391N	ENSP00000356822:D391N	D	-	1	0	ADCY10	166111008	0.001000	0.12720	0.009000	0.14445	0.067000	0.16453	-0.629000	0.05508	-0.603000	0.05767	-0.175000	0.13238	GAT		0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		20	37	0	0	0	1	0	20	37				
ITGA2B	3674	broad.mit.edu	37	17	42466810	42466810	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42466810A>G	ENST00000262407.5	-	1	63	c.32T>C	c.(31-33)cTc>cCc	p.L11P	ITGA2B_ENST00000353281.4_Missense_Mutation_p.L11P	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	11					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CAGAAGCCAGAGGGCTTGCAG	0.602																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(31-33)cTc>cCc		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						77.0	76.0	76.0					17																	42466810		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42466810A>G		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.32T>C	17.37:g.42466810A>G	ENSP00000262407:p.Leu11Pro					ITGA2B_ENST00000353281.4_Missense_Mutation_p.L11P	p.L11P	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	1	63	-		Prostate(33;0.0181)	11					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.32T>C	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.853791	0.51270	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	D;D	0.92752	-3.1;-3.1	5.73	4.65	0.58169	.	0.000000	0.30901	N	0.008641	D	0.89983	0.6873	M	0.67953	2.075	0.37363	D	0.911282	B	0.12630	0.006	B	0.12837	0.008	D	0.87681	0.2547	10	0.87932	D	0	.	9.6776	0.40050	0.9178:0.0:0.0822:0.0	.	11	P08514	ITA2B_HUMAN	P	11	ENSP00000262407:L11P;ENSP00000340536:L11P	ENSP00000262407:L11P	L	-	2	0	ITGA2B	39822336	0.997000	0.39634	0.382000	0.26119	0.522000	0.34438	3.734000	0.55037	1.011000	0.39340	0.459000	0.35465	CTC		0.602	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			22	47	0	0	0	1	0	22	47				
WDR48	57599	broad.mit.edu	37	3	39116403	39116403	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39116403C>T	ENST00000302313.5	+	8	887	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R205W|WDR48_ENST00000544962.1_Missense_Mutation_p.R79W	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	287					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCTGACATTCGGGTGCTAAT	0.383																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(859-861)Cgg>Tgg		WD repeat domain 48							105.0	102.0	103.0					3																	39116403		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39116403C>T	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.859C>T	3.37:g.39116403C>T	ENSP00000307491:p.Arg287Trp					WDR48_ENST00000396258.3_Missense_Mutation_p.R205W|WDR48_ENST00000544962.1_Missense_Mutation_p.R79W|WDR48_ENST00000418020.1_5'UTR	p.R287W	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	8	887	+			287					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.859C>T	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068852	0.76301	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;T;T	0.18960	2.18;2.21;2.21	5.81	4.93	0.64822	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;0.981;0.995	D;P;P;P	0.76575	0.988;0.71;0.71;0.517	T	0.07271	-1.0781	10	0.38643	T	0.18	-11.7782	14.5022	0.67729	0.2808:0.7192:0.0:0.0	.	79;205;278;287	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	W	287;79;205	ENSP00000307491:R287W;ENSP00000445187:R79W;ENSP00000379557:R205W	ENSP00000307491:R287W	R	+	1	2	WDR48	39091407	0.990000	0.36364	0.986000	0.45419	0.997000	0.91878	2.473000	0.45145	1.427000	0.47276	0.650000	0.86243	CGG		0.383	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		16	37	0	0	0	1	0	16	37				
ZNF658	26149	broad.mit.edu	37	9	40774078	40774078	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:40774078G>T	ENST00000602553.1	-	5	1491	c.1197C>A	c.(1195-1197)ctC>ctA	p.L399L	ZNF658_ENST00000377626.3_Silent_p.L399L|ZNF658_ENST00000441795.1_Silent_p.L397L			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GATGCTGAATGAGGTGTGCTT	0.403																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(1195-1197)ctC>ctA		zinc finger protein 658							224.0	223.0	224.0					9																	40774078		2203	4300	6503	SO:0001819	synonymous_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774078G>T	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1197C>A	9.37:g.40774078G>T						ZNF658_ENST00000377626.3_Silent_p.L399L|ZNF658_ENST00000441795.1_Silent_p.L397L	p.L399L			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1491	-			399					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	c.1197C>A	CCDS35023.1																																																																																				0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		63	306	1	0	3.56336e-21	1	4.91459e-21	63	306				
TRIM37	4591	broad.mit.edu	37	17	57106003	57106003	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57106003C>A	ENST00000262294.7	-	19	2289	c.2030G>T	c.(2029-2031)aGa>aTa	p.R677I	TRIM37_ENST00000393065.2_Missense_Mutation_p.R643I|TRIM37_ENST00000376149.3_Missense_Mutation_p.R555I|TRIM37_ENST00000393066.3_Missense_Mutation_p.R677I	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	677					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTTTTGAGTCTTTTTAGCAT	0.393									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1663-1665)aGa>aTa		tripartite motif containing 37							115.0	112.0	113.0					17																	57106003		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57106003C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2030G>T	17.37:g.57106003C>A	ENSP00000262294:p.Arg677Ile					TRIM37_ENST00000393065.2_Missense_Mutation_p.R643I|TRIM37_ENST00000393066.3_Missense_Mutation_p.R677I|TRIM37_ENST00000262294.7_Missense_Mutation_p.R677I	p.R555I			O94972	TRI37_HUMAN			19	2473	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		677					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.1664G>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729341	0.89390	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.991	T	0.46190	-0.9209	10	0.87932	D	0	-8.9775	19.9533	0.97211	0.0:1.0:0.0:0.0	.	643;555;677	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	I	677;677;555;643	ENSP00000376785:R677I;ENSP00000262294:R677I;ENSP00000365319:R555I;ENSP00000376784:R643I	ENSP00000262294:R677I	R	-	2	0	TRIM37	54460785	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.276000	0.72601	2.725000	0.93324	0.585000	0.79938	AGA		0.393	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		22	33	1	0	3.62473e-10	1	4.42315e-10	22	33				
SLITRK5	26050	broad.mit.edu	37	13	88330517	88330517	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:88330517C>A	ENST00000325089.6	+	2	3093	c.2874C>A	c.(2872-2874)ttC>ttA	p.F958L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.F717L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	958					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTAGCCAGTTCTAAAAGCAAA	0.398																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2872-2874)ttC>ttA		SLIT and NTRK-like family, member 5							80.0	87.0	85.0					13																	88330517		2097	4144	6241	SO:0001583	missense	26050					integral to membrane		g.chr13:88330517C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2874C>A	13.37:g.88330517C>A	ENSP00000366283:p.Phe958Leu					SLITRK5_ENST00000400028.3_Missense_Mutation_p.F717L	p.F958L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	3093	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		958					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2874C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	6.501	0.460712	0.12342	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.70869	-0.52;-0.29	5.53	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	N	0.25890	0.77	0.45567	D	0.998518	B;B	0.26120	0.025;0.142	B;B	0.23018	0.028;0.043	T	0.50145	-0.8862	9	.	.	.	.	11.3792	0.49746	0.0:0.9128:0.0:0.0872	.	717;958	B4DSH5;O94991	.;SLIK5_HUMAN	L	958;717	ENSP00000366283:F958L;ENSP00000442244:F717L	.	F	+	3	2	SLITRK5	87128518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.801000	0.47908	2.590000	0.87494	0.462000	0.41574	TTC		0.398	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			31	64	1	0	9.65021e-13	1	1.22324e-12	31	64				
AMACR	23600	broad.mit.edu	37	5	34005876	34005876	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:34005876A>T	ENST00000335606.6	-	2	464	c.376T>A	c.(376-378)Tat>Aat	p.Y126N	AMACR_ENST00000426255.2_Missense_Mutation_p.Y126N|AMACR_ENST00000382072.2_Missense_Mutation_p.Y126N|AMACR_ENST00000382068.3_Missense_Mutation_p.Y126N|AMACR_ENST00000441713.2_Missense_Mutation_p.Y126N|AMACR_ENST00000512079.1_Missense_Mutation_p.Y126N|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.L273Q|AMACR_ENST00000382085.3_Missense_Mutation_p.Y126N|AMACR_ENST00000502637.1_Missense_Mutation_p.Y126N	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	126					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AAAGCCAAATAGTTGATATCG	0.388																																						ENST00000335606.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						c.(376-378)Tat>Aat		alpha-methylacyl-CoA racemase							48.0	50.0	49.0					5																	34005876		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34005876A>T	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.376T>A	5.37:g.34005876A>T	ENSP00000334424:p.Tyr126Asn					AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000441713.2_Missense_Mutation_p.Y126N|AMACR_ENST00000502637.1_Missense_Mutation_p.Y126N|AMACR_ENST00000382085.3_Missense_Mutation_p.Y126N|AMACR_ENST00000382072.2_Missense_Mutation_p.Y126N	p.Y126N	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN			2	464	-			126					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.376T>A	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.521991	0.85600	.	.	ENSG00000242110	ENST00000335606;ENST00000382072;ENST00000382085;ENST00000502637;ENST00000441713	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.46	5.46	0.80206	CoA-transferase family III domain (2);	0.166117	0.56097	D	0.000034	D	0.84800	0.5552	H	0.99555	4.625	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.991;0.996;0.982;0.989;0.998;0.989	D	0.91596	0.5291	10	0.87932	D	0	-7.7514	15.82	0.78633	1.0:0.0:0.0:0.0	.	126;126;126;126;126;126	B3KMU8;Q6VRU4;F8W9N1;D6RB81;Q9UHK6-4;Q9UHK6	.;.;.;.;.;AMACR_HUMAN	N	126	ENSP00000334424:Y126N;ENSP00000371504:Y126N;ENSP00000371517:Y126N;ENSP00000424351:Y126N;ENSP00000403800:Y126N	ENSP00000334424:Y126N	Y	-	1	0	AMACR	34041633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.687000	0.91255	2.209000	0.71365	0.533000	0.62120	TAT		0.388	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		24	38	0	0	0	1	0	24	38				
ZNF518A	9849	broad.mit.edu	37	10	97920089	97920089	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97920089T>G	ENST00000534948.1	+	0	4867							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TCTAAACAGCTTGTGAAATGT	0.378																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							82.0	80.0	81.0					10																	97920089		1839	4082	5921			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97920089T>G	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97920089T>G										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	4867	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.378	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		17	40	0	0	0	1	0	17	40				
MCF2L2	23101	broad.mit.edu	37	3	182925518	182925518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:182925518G>A	ENST00000328913.3	-	23	2887	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*	MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.R864*|MCF2L2_ENST00000468976.1_5'Flank	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	864	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGTTTAAATCGAATCAAATCC	0.438																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2590-2592)Cga>Tga		MCF.2 cell line derived transforming sequence-like 2							142.0	139.0	140.0					3																	182925518		2203	4300	6503	SO:0001587	stop_gained	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182925518G>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2590C>T	3.37:g.182925518G>A	ENSP00000328118:p.Arg864*					MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.R864*	p.R864*	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		23	2887	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		864			PH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	c.2590C>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	41	9.122447	0.99073	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	.	.	.	4.8	2.42	0.29668	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5404	0.39248	0.0:0.0:0.4425:0.5575	.	.	.	.	X	864	.	ENSP00000328118:R864X	R	-	1	2	MCF2L2	184408212	0.980000	0.34600	0.953000	0.39169	0.991000	0.79684	2.196000	0.42686	0.977000	0.38444	0.491000	0.48974	CGA		0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		20	44	0	0	0	1	0	20	44				
CLSPN	63967	broad.mit.edu	37	1	36214035	36214035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:36214035G>A	ENST00000318121.3	-	13	2500	c.2443C>T	c.(2443-2445)Cga>Tga	p.R815*	CLSPN_ENST00000373220.3_Nonsense_Mutation_p.R751*|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.R762*|CLSPN_ENST00000251195.5_Nonsense_Mutation_p.R815*	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	815					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAACTGGCTCGAAATAGCCCA	0.468																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2443-2445)Cga>Tga		claspin							126.0	128.0	127.0					1																	36214035		2203	4300	6503	SO:0001587	stop_gained	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36214035G>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2443C>T	1.37:g.36214035G>A	ENSP00000312995:p.Arg815*					CLSPN_ENST00000373220.3_Nonsense_Mutation_p.R751*|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.R762*|CLSPN_ENST00000318121.3_Nonsense_Mutation_p.R815*	p.R815*			Q9HAW4	CLSPN_HUMAN			13	2539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	815					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Nonsense_Mutation	SNP	ENST00000318121.3	37	c.2443C>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	39	7.645043	0.98409	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	.	.	.	5.71	4.74	0.60224	.	0.113287	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1713	12.0118	0.53291	0.0:0.0:0.6647:0.3353	.	.	.	.	X	815;815;751;762	.	ENSP00000251195:R815X	R	-	1	2	CLSPN	35986622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.572000	0.45999	2.711000	0.92665	0.563000	0.77884	CGA		0.468	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		54	92	0	0	0	1	0	54	92				
GRM1	2911	broad.mit.edu	37	6	146708098	146708098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:146708098G>T	ENST00000282753.1	+	6	1910	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	GRM1_ENST00000355289.4_Nonsense_Mutation_p.E559*|GRM1_ENST00000392299.2_Nonsense_Mutation_p.E559*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.E559*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.E559*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.E559*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	559					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGTGCAAGATGAGTTCACCTG	0.438																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1675-1677)Gag>Tag		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						166.0	156.0	159.0					6																	146708098		2203	4300	6503	SO:0001587	stop_gained	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146708098G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1675G>T	6.37:g.146708098G>T	ENSP00000282753:p.Glu559*					GRM1_ENST00000282753.1_Nonsense_Mutation_p.E559*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.E559*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.E559*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.E559*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.E559*	p.E559*			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	7	2145	+		Ovarian(120;0.0387)	559					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	ENST00000282753.1	37	c.1675G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	44	10.595875	0.99434	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8113	0.92058	0.0:0.0:1.0:0.0	.	.	.	.	X	559	.	ENSP00000282753:E559X	E	+	1	0	GRM1	146749791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.132000	0.94455	2.517000	0.84864	0.585000	0.79938	GAG		0.438	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		49	90	1	0	1.67211e-32	1	2.39548e-32	49	90				
EPHA3	2042	broad.mit.edu	37	3	89478270	89478270	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89478270A>C	ENST00000336596.2	+	12	2314	c.2089A>C	c.(2089-2091)Att>Ctt	p.I697L	EPHA3_ENST00000494014.1_Missense_Mutation_p.I697L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	697	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCCAGTTATGATTGTCACAGA	0.289										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2089-2091)Att>Ctt		EPH receptor A3							103.0	108.0	106.0					3																	89478270		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89478270A>C	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2089A>C	3.37:g.89478270A>C	ENSP00000337451:p.Ile697Leu	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.I697L	p.I697L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	12	2314	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	697			Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2089A>C	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.875656	0.91664	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.83075	-1.68;-1.68	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	N	0.10618	0.005	0.80722	D	1	P	0.39665	0.682	D	0.75020	0.985	T	0.82204	-0.0573	9	.	.	.	.	16.2237	0.82280	1.0:0.0:0.0:0.0	.	697	P29320	EPHA3_HUMAN	L	697	ENSP00000337451:I697L;ENSP00000419190:I697L	.	I	+	1	0	EPHA3	89560960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.289000	0.77006	0.482000	0.46254	ATT		0.289	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		15	34	0	0	0	1	0	15	34				
ANXA13	312	broad.mit.edu	37	8	124701112	124701112	+	Splice_Site	SNP	G	G	A	rs367655009		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124701112G>A	ENST00000419625.1	-	9	789	c.717C>T	c.(715-717)ctC>ctT	p.L239L	ANXA13_ENST00000262219.6_Splice_Site_p.L280L	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	239					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTACTTTACCGAGAGTTAAAT	0.443																																						ENST00000262219.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.e10+1		annexin A13							134.0	119.0	124.0					8																	124701112		2203	4300	6503	SO:0001630	splice_region_variant	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124701112G>A	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.718+1C>T	8.37:g.124701112G>A						ANXA13_ENST00000419625.1_Splice_Site_p.L239_splice	p.L280_splice	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		10	907	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		239					Q9BQR5	Splice_Site	SNP	ENST00000419625.1	37	c.841_splice	CCDS47917.1																																																																																				0.443	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306	Silent	23	38	0	0	0	1	0	23	38				
ALLC	55821	broad.mit.edu	37	2	3727581	3727581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3727581G>T	ENST00000252505.3	+	5	457	c.295G>T	c.(295-297)Gaa>Taa	p.E99*		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	118					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AAACTTGGAAGAAGGTGCGTT	0.547										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(295-297)Gaa>Taa		allantoicase							98.0	102.0	101.0					2																	3727581		2067	4201	6268	SO:0001587	stop_gained	55821						allantoicase activity	g.chr2:3727581G>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.295G>T	2.37:g.3727581G>T	ENSP00000252505:p.Glu99*	HNSCC(21;0.051)					p.E99*	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	457	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	118					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Nonsense_Mutation	SNP	ENST00000252505.3	37	c.295G>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287007	0.95517	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	0.606	0.17559	.	0.662303	0.15447	N	0.261887	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-10.131	5.5355	0.17009	0.2466:0.3988:0.3546:0.0	.	.	.	.	X	99	.	ENSP00000252505:E99X	E	+	1	0	ALLC	3705456	0.977000	0.34250	0.779000	0.31741	0.743000	0.42351	1.537000	0.36083	0.446000	0.26666	0.655000	0.94253	GAA		0.547	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			39	48	1	0	4.92203e-23	1	6.86763e-23	39	48				
AMPH	273	broad.mit.edu	37	7	38431504	38431504	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:38431504G>A	ENST00000356264.2	-	19	1938	c.1723C>T	c.(1723-1725)Ccg>Tcg	p.P575S	AMPH_ENST00000325590.5_Missense_Mutation_p.P533S|AMPH_ENST00000428293.2_Missense_Mutation_p.P533S|AMPH_ENST00000471913.1_5'Flank	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	575					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.P575S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGGGGCCCGGAGGAGCCGCG	0.612																																						ENST00000356264.2																			1	Substitution - Missense(1)	p.P575S(1)	skin(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1723-1725)Ccg>Tcg		amphiphysin							58.0	55.0	56.0					7																	38431504		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431504G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1723C>T	7.37:g.38431504G>A	ENSP00000348602:p.Pro575Ser					AMPH_ENST00000325590.5_Missense_Mutation_p.P533S|AMPH_ENST00000428293.2_Missense_Mutation_p.P533S	p.P575S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			19	1938	-			575					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1723C>T	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.464|8.464	0.855872|0.855872	0.17106|0.17106	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	T;T;T|.	0.58940|.	0.33;0.33;0.3|.	5.5|5.5	0.158|0.158	0.14942|0.14942	.|.	1.493720|.	0.03864|.	N|.	0.274409|.	T|T	0.30324|0.30324	0.0761|0.0761	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.15930|.	0.015;0.015;0.013|.	B;B;B|.	0.15870|.	0.014;0.007;0.007|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|5	0.13108|.	T|.	0.6|.	0.6635|0.6635	11.0424|11.0424	0.47838|0.47838	0.0:0.338:0.4299:0.2321|0.0:0.338:0.4299:0.2321	.|.	533;575;463|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	S|F	533;575;533;477|457	ENSP00000317441:P533S;ENSP00000348602:P575S;ENSP00000390734:P533S|.	ENSP00000317441:P533S|.	P|S	-|-	1|2	0|0	AMPH|AMPH	38398029|38398029	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.694000|0.694000	0.25512|0.25512	-0.268000|-0.268000	0.09312|0.09312	0.591000|0.591000	0.81541|0.81541	CCG|TCC		0.612	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		24	36	0	0	0	1	0	24	36				
DSC1	1823	broad.mit.edu	37	18	28720011	28720011	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28720011C>A	ENST00000257198.5	-	10	1775	c.1514G>T	c.(1513-1515)gGc>gTc	p.G505V	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.G505V	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	505	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCACCTTAAGCCTTCACCACT	0.368																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1513-1515)gGc>gTc		desmocollin 1							73.0	77.0	76.0					18																	28720011		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28720011C>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1514G>T	18.37:g.28720011C>A	ENSP00000257198:p.Gly505Val					DSC1_ENST00000257198.5_Missense_Mutation_p.G505V|RP11-408H20.2_ENST00000581836.1_RNA	p.G505V	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		10	1775	-			505			Cadherin 4.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1514G>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739999	0.49045	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.51574	0.7;0.7	5.74	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.116475	0.38605	N	0.001631	T	0.63486	0.2515	L	0.61036	1.89	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.70016	0.967;0.93	T	0.63786	-0.6558	10	0.54805	T	0.06	.	13.0374	0.58879	0.0:0.9234:0.0:0.0766	.	505;505	Q08554;Q9HB00	DSC1_HUMAN;.	V	505	ENSP00000257197:G505V;ENSP00000257198:G505V	ENSP00000257197:G505V	G	-	2	0	DSC1	26974009	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.206000	0.51098	2.714000	0.92807	0.585000	0.79938	GGC		0.368	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		17	40	1	0	3.41278e-10	1	4.16994e-10	17	40				
TBX4	9496	broad.mit.edu	37	17	59560407	59560407	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:59560407G>T	ENST00000240335.1	+	8	1213	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Nonsense_Mutation_p.E391*	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	390					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCCCCAGAGAAGCATGTAT	0.607																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1171-1173)Gaa>Taa		T-box 4							72.0	66.0	68.0					17																	59560407		2203	4300	6503	SO:0001587	stop_gained	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560407G>T	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1168G>T	17.37:g.59560407G>T	ENSP00000240335:p.Glu390*					TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Nonsense_Mutation_p.E390*	p.E391*			P57082	TBX4_HUMAN			9	1334	+			390					A5PKU7|B2RMT1|B7ZLV3	Nonsense_Mutation	SNP	ENST00000240335.1	37	c.1171G>T	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	37	6.249981	0.97412	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	.	.	.	5.51	5.51	0.81932	.	0.049883	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	.	.	.	X	391;390	.	.	E	+	1	0	TBX4	56915189	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.411000	0.97342	2.590000	0.87494	0.655000	0.94253	GAA		0.607	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		28	54	1	0	1.68575e-08	1	1.99097e-08	28	54				
TRRAP	8295	broad.mit.edu	37	7	98519436	98519436	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98519436C>T	ENST00000359863.4	+	21	2892	c.2683C>T	c.(2683-2685)Ctc>Ttc	p.L895F	TRRAP_ENST00000355540.3_Missense_Mutation_p.L895F|TRRAP_ENST00000446306.3_Missense_Mutation_p.L894F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	895					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTACCGTGTGCTCGGTAAGTT	0.547																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2683-2685)Ctc>Ttc		transformation/transcription domain-associated protein							164.0	130.0	142.0					7																	98519436		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98519436C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2683C>T	7.37:g.98519436C>T	ENSP00000352925:p.Leu895Phe					TRRAP_ENST00000446306.3_Missense_Mutation_p.L894F|TRRAP_ENST00000355540.3_Missense_Mutation_p.L895F	p.L895F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		21	2892	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		895					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2683C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556781	0.86231	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.77489	-1.1;-1.1	5.94	5.94	0.96194	Armadillo-type fold (2);	0.000000	0.64402	D	0.000004	D	0.91835	0.7416	M	0.93939	3.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.92935	0.6367	10	0.87932	D	0	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	895;609;895	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	F	895;895;893	ENSP00000352925:L895F;ENSP00000347733:L895F	ENSP00000347733:L895F	L	+	1	0	TRRAP	98357372	1.000000	0.71417	0.186000	0.23195	0.810000	0.45777	4.397000	0.59690	2.822000	0.97130	0.557000	0.71058	CTC		0.547	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		53	90	0	0	0	1	0	53	90				
DOCK10	55619	broad.mit.edu	37	2	225672668	225672668	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225672668A>C	ENST00000258390.7	-	32	3612	c.3545T>G	c.(3544-3546)cTa>cGa	p.L1182R	DOCK10_ENST00000409592.3_Missense_Mutation_p.L1176R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1182					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTAGCCATTAGATTTTTTAG	0.423																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3526-3528)cTa>cGa		dedicator of cytokinesis 10							90.0	87.0	88.0					2																	225672668		1880	4104	5984	SO:0001583	missense	55619						GTP binding	g.chr2:225672668A>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3545T>G	2.37:g.225672668A>C	ENSP00000258390:p.Leu1182Arg					DOCK10_ENST00000258390.7_Missense_Mutation_p.L1182R	p.L1176R			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	32	3640	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1182					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.3527T>G	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.3|25.3	4.620006|4.620006	0.87460|0.87460	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390|ENST00000422684	T;T|.	0.73363|.	3.07;-0.74|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.075172|.	0.53938|.	D|.	0.000044|.	D|.	0.83468|.	0.5261|.	M|M	0.89785|0.89785	3.06|3.06	0.51012|0.51012	D|D	0.999902|0.999902	D;P;D|.	0.57257|.	0.979;0.623;0.963|.	P;P;P|.	0.59948|.	0.827;0.503;0.866|.	D|.	0.86878|.	0.2040|.	10|.	0.87932|.	D|.	0|.	.|.	15.4767|15.4767	0.75485|0.75485	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1182;45;1176|.	Q96BY6;B4DF07;B3FL70|.	DOC10_HUMAN;.;.|.	R|E	1176;1182|73	ENSP00000386694:L1176R;ENSP00000258390:L1182R|.	ENSP00000258390:L1182R|.	L|X	-|-	2|1	0|0	DOCK10|DOCK10	225380912|225380912	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.997000|0.997000	0.91878|0.91878	8.665000|8.665000	0.91144|0.91144	2.097000|2.097000	0.63578|0.63578	0.477000|0.477000	0.44152|0.44152	CTA|TAA		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			4	10	0	0	0	1	0	4	10				
EGF	1950	broad.mit.edu	37	4	110865047	110865047	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:110865047C>A	ENST00000265171.5	+	4	1004	c.559C>A	c.(559-561)Ctc>Atc	p.L187I	EGF_ENST00000509793.1_Missense_Mutation_p.L187I|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.L187I	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	187					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TAGAGCAGATCTCGATGGTGT	0.423																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(559-561)Ctc>Atc		epidermal growth factor	Sulindac(DB00605)						162.0	155.0	157.0					4																	110865047		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110865047C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.559C>A	4.37:g.110865047C>A	ENSP00000265171:p.Leu187Ile					EGF_ENST00000509793.1_Missense_Mutation_p.L187I|EGF_ENST00000503392.1_Missense_Mutation_p.L187I|EGF_ENST00000502723.1_3'UTR	p.L187I	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	4	1004	+		Hepatocellular(203;0.0893)	187					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.559C>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839670	0.32513	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.92048	-2.96;-2.96;-2.96	5.71	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.175355	0.51477	D	0.000092	D	0.92084	0.7491	M	0.83603	2.65	0.41536	D	0.988486	P;P;B	0.37914	0.477;0.611;0.339	B;B;B	0.36378	0.111;0.223;0.111	D	0.92204	0.5770	10	0.59425	D	0.04	.	14.5486	0.68050	0.0:0.9302:0.0:0.0698	.	187;187;187	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	I	187	ENSP00000424316:L187I;ENSP00000265171:L187I;ENSP00000421384:L187I	ENSP00000265171:L187I	L	+	1	0	EGF	111084496	0.812000	0.29077	0.036000	0.18154	0.272000	0.26649	1.644000	0.37228	1.429000	0.47314	0.655000	0.94253	CTC		0.423	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			10	34	1	0	9.70103e-10	1	1.17791e-09	10	34				
LMOD2	442721	broad.mit.edu	37	7	123296133	123296133	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123296133A>G	ENST00000458573.2	+	1	273	c.116A>G	c.(115-117)gAc>gGc	p.D39G	LMOD2_ENST00000456238.2_Missense_Mutation_p.D39G	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	39	Glu-rich.|Tropomyosin-binding. {ECO:0000250}.					cytoskeleton (GO:0005856)											GAGTTGGAAGACATTGAACCT	0.537																																						ENST00000458573.2																			0											c.(115-117)gAc>gGc		leiomodin 2 (cardiac)							55.0	58.0	57.0					7																	123296133		1946	4134	6080	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123296133A>G	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.116A>G	7.37:g.123296133A>G	ENSP00000411932:p.Asp39Gly					LMOD2_ENST00000456238.2_Missense_Mutation_p.D39G	p.D39G	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			1	273	+			39			Glu-rich.|Tropomyosin-binding (By similarity).		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.116A>G	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.844862	0.51164	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.34275	1.37;1.37	5.77	5.77	0.91146	.	0.000000	0.38837	N	0.001558	T	0.60327	0.2260	M	0.73217	2.22	0.53005	D	0.999963	D	0.89917	1.0	D	0.87578	0.998	T	0.61633	-0.7023	10	0.51188	T	0.08	-25.8665	16.1024	0.81184	1.0:0.0:0.0:0.0	.	39	Q6P5Q4	LMOD2_HUMAN	G	39	ENSP00000411932:D39G;ENSP00000398975:D39G	ENSP00000405123:D39G	D	+	2	0	LMOD2	123083369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.449000	0.80643	2.200000	0.70718	0.459000	0.35465	GAC		0.537	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			3	23	0	0	0	1	0	3	23				
MROH7	374977	broad.mit.edu	37	1	55118690	55118690	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55118690T>C	ENST00000421030.2	+	3	376	c.91T>C	c.(91-93)Tct>Cct	p.S31P	MROH7_ENST00000339553.5_Missense_Mutation_p.S31P|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.S31P|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.S31P	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	31						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGGATTAGGGTCTGGTACCAT	0.572																																						ENST00000414150.2																			0											c.(91-93)Tct>Cct		maestro heat-like repeat family member 7							63.0	64.0	64.0					1																	55118690		1887	4096	5983	SO:0001583	missense	374977							g.chr1:55118690T>C	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.91T>C	1.37:g.55118690T>C	ENSP00000396622:p.Ser31Pro					MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.S31P|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.S31P|MROH7_ENST00000421030.2_Missense_Mutation_p.S31P|MROH7_ENST00000409996.1_Intron	p.S31P							3	369	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.91T>C	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	T	13.81	2.347469	0.41599	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.04706	4.09;3.57;3.58	3.16	1.96	0.26148	.	1.327860	0.05790	N	0.610161	T	0.04770	0.0129	L	0.29908	0.895	0.09310	N	1	B;B;B	0.16802	0.004;0.004;0.019	B;B;B	0.15870	0.007;0.003;0.014	T	0.42361	-0.9456	10	0.87932	D	0	.	4.6463	0.12574	0.0:0.1696:0.0:0.8304	.	31;31;31	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	P	31	ENSP00000396622:S31P;ENSP00000343211:S31P;ENSP00000379044:S31P	ENSP00000343211:S31P	S	+	1	0	HEATR8	54891278	0.508000	0.26154	0.002000	0.10522	0.001000	0.01503	2.308000	0.43690	0.551000	0.29008	-0.366000	0.07423	TCT		0.572	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		24	46	0	0	0	1	0	24	46				
ACAA1	30	broad.mit.edu	37	3	38163210	38163210	+	IGR	SNP	G	G	A	rs573428697		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38163210G>A	ENST00000333167.8	-	0	1785				DLEC1_ENST00000346219.3_Missense_Mutation_p.R1653Q|ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000308059.6_Missense_Mutation_p.R1653Q|DLEC1_ENST00000452631.2_Missense_Mutation_p.R1656Q	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGCCAGCAGCGAGTCCGGGAG	0.632																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4957-4959)cGa>cAa		deleted in lung and esophageal cancer 1							69.0	76.0	74.0					3																	38163210		2059	4191	6250	SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38163210G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38163210G>A						DLEC1_ENST00000452631.2_Missense_Mutation_p.R1656Q|DLEC1_ENST00000346219.3_Missense_Mutation_p.R1653Q	p.R1653Q			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	35	4979	+			1653					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.4958G>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681901	0.29872	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05717	3.51;3.4;3.73	4.28	-1.52	0.08637	.	0.931319	0.08913	N	0.875550	T	0.03695	0.0105	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B	0.29037	0.231;0.231;0.043;0.231;0.231	B;B;B;B;B	0.19148	0.024;0.024;0.008;0.024;0.024	T	0.46219	-0.9207	10	0.18276	T	0.48	-2.525	10.8553	0.46796	0.5381:0.0:0.4619:0.0	.	1656;1653;1653;1653;1653	F8W6T4;B1B5Y4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;.;DLEC1_HUMAN	Q	1653;1653;1656	ENSP00000308597:R1653Q;ENSP00000315914:R1653Q;ENSP00000410427:R1656Q	ENSP00000308597:R1653Q	R	+	2	0	DLEC1	38138214	0.000000	0.05858	0.000000	0.03702	0.982000	0.71751	-0.523000	0.06230	-0.261000	0.09405	0.556000	0.70494	CGA		0.632	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		25	52	0	0	0	1	0	25	52				
COL5A3	50509	broad.mit.edu	37	19	10079070	10079070	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10079070C>A	ENST00000264828.3	-	59	4390	c.4305G>T	c.(4303-4305)aaG>aaT	p.K1435N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1435	Collagen-like 6.|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)			CAGGGTCTCCCTTGGGACCAG	0.607																																						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.(4303-4305)aaG>aaT		collagen, type V, alpha 3							102.0	116.0	111.0					19																	10079070		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10079070C>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.4305G>T	19.37:g.10079070C>A	ENSP00000264828:p.Lys1435Asn						p.K1435N	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		59	4390	-			1435			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4305G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954186	0.34471	.	.	ENSG00000080573	ENST00000264828	D	0.96427	-4.01	3.92	2.81	0.32909	.	0.214422	0.37715	N	0.001964	D	0.93785	0.8013	M	0.71581	2.175	0.42134	D	0.991484	P	0.42456	0.78	B	0.40444	0.329	D	0.92199	0.5766	10	0.56958	D	0.05	.	4.5625	0.12166	0.0:0.7366:0.0:0.2634	.	1435	P25940	CO5A3_HUMAN	N	1435	ENSP00000264828:K1435N	ENSP00000264828:K1435N	K	-	3	2	COL5A3	9940070	0.995000	0.38212	0.987000	0.45799	0.505000	0.33919	0.275000	0.18698	2.018000	0.59344	0.591000	0.81541	AAG		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		65	109	1	0	6.8682e-38	1	9.89239e-38	65	109				
ACE	1636	broad.mit.edu	37	17	61571794	61571794	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61571794G>T	ENST00000290866.4	+	22	3367	c.3343G>T	c.(3343-3345)Gcc>Tcc	p.A1115S	ACE_ENST00000421982.2_Missense_Mutation_p.A361S|ACE_ENST00000290863.6_Missense_Mutation_p.A541S|ACE_ENST00000413513.3_Missense_Mutation_p.A541S|ACE_ENST00000428043.1_Missense_Mutation_p.A1115S|ACE_ENST00000577647.1_Missense_Mutation_p.A541S|ACE_ENST00000490216.2_Missense_Mutation_p.A541S	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1115	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGACCCAGGGGCCAAGTTCCA	0.547																																						ENST00000577647.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1621-1623)Gcc>Tcc		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						92.0	67.0	76.0					17																	61571794		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61571794G>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3343G>T	17.37:g.61571794G>T	ENSP00000290866:p.Ala1115Ser					ACE_ENST00000428043.1_Missense_Mutation_p.A1115S|ACE_ENST00000290866.4_Missense_Mutation_p.A1115S|ACE_ENST00000290863.6_Missense_Mutation_p.A541S|ACE_ENST00000421982.2_Missense_Mutation_p.A361S|ACE_ENST00000413513.3_Missense_Mutation_p.A541S|ACE_ENST00000490216.2_Missense_Mutation_p.A541S	p.A541S			P12821	ACE_HUMAN			11	1666	+			1115			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1621G>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514399	0.27123	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	4.76	3.76	0.43208	.	0.107683	0.64402	N	0.000007	T	0.41143	0.1146	L	0.56199	1.76	0.53005	D	0.999964	B;P;B;B	0.35456	0.031;0.502;0.142;0.038	B;B;B;B	0.43950	0.117;0.437;0.171;0.163	T	0.15037	-1.0451	10	0.25751	T	0.34	-32.6648	13.7779	0.63066	0.0:0.0:0.84:0.1599	.	361;541;541;1115	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	S	1115;1115;541;541;361	ENSP00000290866:A1115S;ENSP00000397593:A1115S;ENSP00000290863:A541S;ENSP00000392247:A541S;ENSP00000387760:A361S	ENSP00000290863:A541S	A	+	1	0	ACE	58925526	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	6.278000	0.72614	0.937000	0.37394	0.313000	0.20887	GCC		0.547	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			11	25	1	0	0.0135373	1	0.0139058	11	25				
OR10AG1	282770	broad.mit.edu	37	11	55735436	55735436	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55735436G>T	ENST00000312345.2	-	1	554	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTCACAAAAGAAATGATTAA	0.403																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(502-504)ttC>ttA		olfactory receptor, family 10, subfamily AG, member 1							77.0	75.0	76.0					11																	55735436		2201	4295	6496	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735436G>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.504C>A	11.37:g.55735436G>T	ENSP00000311477:p.Phe168Leu						p.F168L	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	554	-	Esophageal squamous(21;0.0137)		168					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.504C>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286096	0.40394	.	.	ENSG00000174970	ENST00000312345	T	0.00346	8.01	5.37	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.219434	0.32608	N	0.005876	T	0.00440	0.0014	M	0.87547	2.89	0.09310	N	0.999994	B	0.26400	0.148	B	0.36766	0.232	T	0.24693	-1.0153	10	0.56958	D	0.05	.	7.467	0.27326	0.4172:0.0:0.5828:0.0	.	168	Q8NH19	O10AG_HUMAN	L	168	ENSP00000311477:F168L	ENSP00000311477:F168L	F	-	3	2	OR10AG1	55492012	0.007000	0.16637	0.998000	0.56505	0.905000	0.53344	-0.469000	0.06648	0.618000	0.30179	0.477000	0.44152	TTC		0.403	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		11	31	1	0	5.16669e-11	1	6.39918e-11	11	31				
BBS7	55212	broad.mit.edu	37	4	122765149	122765149	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122765149A>G	ENST00000264499.4	-	12	1421	c.1238T>C	c.(1237-1239)gTt>gCt	p.V413A	BBS7_ENST00000506636.1_Missense_Mutation_p.V413A	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	413					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATCTATTGGAACATCACTCTA	0.303									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1237-1239)gTt>gCt		Bardet-Biedl syndrome 7							41.0	41.0	41.0					4																	122765149		2197	4296	6493	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122765149A>G	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1238T>C	4.37:g.122765149A>G	ENSP00000264499:p.Val413Ala					BBS7_ENST00000506636.1_Missense_Mutation_p.V413A	p.V413A	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			12	1421	-			413					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.1238T>C	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424578	0.83667	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.77877	-1.13;-1.13	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	M	0.64567	1.98	0.80722	D	1	P	0.48089	0.905	P	0.49047	0.599	T	0.79541	-0.1761	10	0.33141	T	0.24	-20.9552	16.6438	0.85155	1.0:0.0:0.0:0.0	.	413	Q8IWZ6	BBS7_HUMAN	A	413	ENSP00000264499:V413A;ENSP00000423626:V413A	ENSP00000264499:V413A	V	-	2	0	BBS7	122984599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.262000	0.95591	2.333000	0.79357	0.533000	0.62120	GTT		0.303	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			5	8	0	0	0	1	0	5	8				
SLIT3	6586	broad.mit.edu	37	5	168180967	168180967	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:168180967G>A	ENST00000519560.1	-	17	2150	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SLIT3_ENST00000404867.3_Silent_p.F577F|SLIT3_ENST00000332966.8_Silent_p.F577F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	577					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCTCCATCGAAAGCTCCCT	0.532																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1729-1731)ttC>ttT		slit homolog 3 (Drosophila)							38.0	36.0	37.0					5																	168180967		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168180967G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1731C>T	5.37:g.168180967G>A						SLIT3_ENST00000404867.3_Silent_p.F577F|SLIT3_ENST00000332966.8_Silent_p.F577F	p.F577F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		17	2150	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	577					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.1731C>T	CCDS4369.1																																																																																				0.532	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		6	14	0	0	0	1	0	6	14				
CPT1B	1375	broad.mit.edu	37	22	51008020	51008020	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:51008020G>T	ENST00000360719.2	-	18	2357	c.2220C>A	c.(2218-2220)ttC>ttA	p.F740L	CPT1B_ENST00000312108.7_Missense_Mutation_p.F740L|CPT1B_ENST00000440709.1_Missense_Mutation_p.F659L|CPT1B_ENST00000457250.1_Missense_Mutation_p.F706L|CPT1B_ENST00000395650.2_Missense_Mutation_p.F740L|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.F535L|CPT1B_ENST00000405237.3_Missense_Mutation_p.F740L	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	740					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTGAGCTTGAGAACTTGCTGG	0.562																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2218-2220)ttC>ttA		carnitine palmitoyltransferase 1B (muscle)							116.0	97.0	104.0					22																	51008020		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51008020G>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2220C>A	22.37:g.51008020G>T	ENSP00000353945:p.Phe740Leu					CPT1B_ENST00000434492.2_Missense_Mutation_p.F535L|CPT1B_ENST00000440709.1_Missense_Mutation_p.F659L|CPT1B_ENST00000457250.1_Missense_Mutation_p.F706L|CPT1B_ENST00000312108.7_Missense_Mutation_p.F740L|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Missense_Mutation_p.F740L|CPT1B_ENST00000405237.3_Missense_Mutation_p.F740L	p.F740L	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	18	2357	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	740					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.2220C>A	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	9.665	1.145098	0.21288	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.2	3.09	0.35607	.	0.101299	0.64402	N	0.000002	D	0.84705	0.5531	M	0.70275	2.135	0.50813	D	0.999896	B;B;B;B	0.12630	0.004;0.001;0.003;0.006	B;B;B;B	0.15052	0.007;0.005;0.012;0.012	T	0.73867	-0.3847	10	0.11485	T	0.65	-19.3953	8.461	0.32927	0.0822:0.0:0.7652:0.1526	.	659;706;535;740	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	L	740;740;740;706;659;535;740	ENSP00000385486:F740L;ENSP00000312189:F740L;ENSP00000353945:F740L;ENSP00000409342:F706L;ENSP00000414713:F659L;ENSP00000410966:F535L;ENSP00000379011:F740L	ENSP00000312189:F740L	F	-	3	2	CPT1B	49354886	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.441000	0.44864	0.564000	0.29238	0.561000	0.74099	TTC		0.562	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		23	18	1	0	6.44725e-10	1	7.85205e-10	23	18				
LGR6	59352	broad.mit.edu	37	1	202278292	202278292	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202278292T>C	ENST00000367278.3	+	15	1483	c.1394T>C	c.(1393-1395)tTc>tCc	p.F465S	LGR6_ENST00000255432.7_Missense_Mutation_p.F413S|LGR6_ENST00000439764.2_Missense_Mutation_p.F326S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	465					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AAGGACAGTTTCCCAAAACTG	0.587																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(1393-1395)tTc>tCc		leucine-rich repeat containing G protein-coupled receptor 6							92.0	80.0	84.0					1																	202278292		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202278292T>C	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1394T>C	1.37:g.202278292T>C	ENSP00000356247:p.Phe465Ser					LGR6_ENST00000255432.7_Missense_Mutation_p.F413S|LGR6_ENST00000439764.2_Missense_Mutation_p.F326S	p.F465S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			15	1483	+			465					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.1394T>C	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686693	0.88639	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.25250	5.42;4.27;1.81	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.84219	2.685	0.47994	D	0.999567	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74348	0.982;0.983;0.976	T	0.61686	-0.7012	10	0.87932	D	0	.	15.5236	0.75885	0.0:0.0:0.0:1.0	.	326;413;465	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	S	465;413;326	ENSP00000356247:F465S;ENSP00000255432:F413S;ENSP00000387869:F326S	ENSP00000255432:F413S	F	+	2	0	LGR6	200544915	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.832000	0.86757	2.139000	0.66308	0.459000	0.35465	TTC		0.587	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		25	43	0	0	0	1	0	25	43				
NXPE1	120400	broad.mit.edu	37	11	114393211	114393211	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:114393211C>A	ENST00000424269.1	-	5	1122	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	NXPE1_ENST00000536271.1_Missense_Mutation_p.D91Y|NXPE1_ENST00000251921.2_Missense_Mutation_p.D233Y			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	375						extracellular region (GO:0005576)											TCATGAAGATCAAAAAACTTC	0.303																																						ENST00000536271.1																			0											c.(271-273)Gat>Tat		neurexophilin and PC-esterase domain family, member 1							54.0	57.0	56.0					11																	114393211		2201	4294	6495	SO:0001583	missense	120400							g.chr11:114393211C>A	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1123G>T	11.37:g.114393211C>A	ENSP00000411690:p.Asp375Tyr					NXPE1_ENST00000251921.2_Missense_Mutation_p.D233Y|NXPE1_ENST00000424269.1_Missense_Mutation_p.D375Y	p.D91Y							4	1514	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.271G>T		.	.	.	.	.	.	.	.	.	.	C	14.89	2.671401	0.47781	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.17854	2.25;2.25;2.25	4.19	3.27	0.37495	.	0.247697	0.33938	N	0.004401	T	0.40498	0.1119	M	0.88906	2.99	0.27999	N	0.935366	D	0.89917	1.0	D	0.79108	0.992	T	0.20940	-1.0260	10	0.28530	T	0.3	.	7.4166	0.27048	0.0:0.8:0.0:0.2	.	375	Q8N323	FA55A_HUMAN	Y	91;233;375	ENSP00000445200:D91Y;ENSP00000251921:D233Y;ENSP00000411690:D375Y	ENSP00000251921:D233Y	D	-	1	0	FAM55A	113898421	0.932000	0.31603	0.993000	0.49108	0.872000	0.50106	0.203000	0.17315	2.275000	0.75901	0.650000	0.86243	GAT		0.303	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		7	16	1	0	8.12818e-05	1	8.79784e-05	7	16				
MUC17	140453	broad.mit.edu	37	7	100695217	100695217	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100695217G>T	ENST00000306151.4	+	9	13141	c.13077G>T	c.(13075-13077)caG>caT	p.Q4359H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4359					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAAGTGCCAGATGTCTCTAA	0.597																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13075-13077)caG>caT		mucin 17, cell surface associated							190.0	167.0	174.0					7																	100695217		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100695217G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13077G>T	7.37:g.100695217G>T	ENSP00000302716:p.Gln4359His						p.Q4359H	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			9	13141	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4359					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.13077G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	4.690	0.128324	0.08981	.	.	ENSG00000169876	ENST00000306151	T	0.49432	0.78	4.26	1.33	0.21861	.	.	.	.	.	T	0.58018	0.2093	M	0.65498	2.005	0.09310	N	1	D	0.58970	0.984	D	0.64506	0.926	T	0.43829	-0.9367	9	0.49607	T	0.09	.	4.418	0.11466	0.2119:0.1864:0.6018:0.0	.	4359	Q685J3	MUC17_HUMAN	H	4359	ENSP00000302716:Q4359H	ENSP00000302716:Q4359H	Q	+	3	2	MUC17	100481937	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	0.622000	0.24433	0.157000	0.19338	0.561000	0.74099	CAG		0.597	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		65	115	1	0	3.57465e-26	1	5.05666e-26	65	115				
EPHA8	2046	broad.mit.edu	37	1	22919928	22919928	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:22919928C>A	ENST00000166244.3	+	6	1497	c.1425C>A	c.(1423-1425)atC>atA	p.I475I		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	475	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGTATGAGATCAAGTACTACG	0.652																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1423-1425)atC>atA		EPH receptor A8							33.0	29.0	30.0					1																	22919928		2200	4299	6499	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22919928C>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1425C>A	1.37:g.22919928C>A							p.I475I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1497	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	475			Fibronectin type-III 2.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.1425C>A	CCDS225.1																																																																																				0.652	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		12	5	1	0	0.00010058	1	0.000108553	12	5				
TMEM186	25880	broad.mit.edu	37	16	8890295	8890295	+	Missense_Mutation	SNP	C	C	A	rs145897590		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:8890295C>A	ENST00000333050.6	-	2	189	c.156G>T	c.(154-156)gaG>gaT	p.E52D	TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000537352.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	52						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ATTTCTCAGTCTCTGCGTTTG	0.537																																						ENST00000333050.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(154-156)gaG>gaT		transmembrane protein 186							139.0	140.0	140.0					16																	8890295		2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8890295C>A	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.156G>T	16.37:g.8890295C>A	ENSP00000331640:p.Glu52Asp					TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	p.E52D	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN			2	189	-			52					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.156G>T	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365888	0.41902	.	.	ENSG00000184857	ENST00000333050	.	.	.	5.18	5.18	0.71444	.	0.309039	0.23093	N	0.052001	T	0.53722	0.1814	M	0.70595	2.14	0.28239	N	0.92576	D	0.54964	0.969	P	0.55011	0.766	T	0.53472	-0.8434	9	0.45353	T	0.12	-5.0995	10.1883	0.43011	0.0:0.9081:0.0:0.0919	.	52	Q96B77	TM186_HUMAN	D	52	.	ENSP00000331640:E52D	E	-	3	2	TMEM186	8797796	0.001000	0.12720	0.481000	0.27354	0.407000	0.30961	0.278000	0.18753	2.581000	0.87130	0.561000	0.74099	GAG		0.537	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		37	71	1	0	3.09479e-21	1	4.27043e-21	37	71				
PIGA	5277	broad.mit.edu	37	X	15350106	15350106	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15350106C>A	ENST00000333590.4	-	0	31				PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_De_novo_Start_InFrame	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GAGATGTGTCCTCTATTACCT	0.408																																						ENST00000333590.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10								phosphatidylinositol glycan anchor biosynthesis, class A																																						5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15350106C>A	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.-54G>T	X.37:g.15350106C>A						PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_De_novo_Start_InFrame		NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			0	31	-	Hepatocellular(33;0.183)							B4E0V2|Q16025|Q16250	Translation_Start_Site	SNP	ENST00000333590.4	37		CCDS14165.1																																																																																				0.408	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		12	26	1	0	0.000978159	1	0.00102903	12	26				
LIMCH1	22998	broad.mit.edu	37	4	41691559	41691559	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41691559G>T	ENST00000313860.7	+	25	3084	c.3030G>T	c.(3028-3030)aaG>aaT	p.K1010N	LIMCH1_ENST00000513024.1_Missense_Mutation_p.K837N|LIMCH1_ENST00000381753.4_Missense_Mutation_p.K817N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.K983N|LIMCH1_ENST00000514096.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000512946.1_Missense_Mutation_p.K984N|LIMCH1_ENST00000512820.1_Missense_Mutation_p.K996N|LIMCH1_ENST00000511496.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000503057.1_Missense_Mutation_p.K1394N|LIMCH1_ENST00000512632.1_Missense_Mutation_p.K907N|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000509277.1_Missense_Mutation_p.K843N|LIMCH1_ENST00000396595.3_Missense_Mutation_p.K829N	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1010					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TAAGTGGAAAGAAGCTGTGCT	0.388																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(3028-3030)aaG>aaT		LIM and calponin homology domains 1							132.0	126.0	128.0					4																	41691559		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41691559G>T	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.3030G>T	4.37:g.41691559G>T	ENSP00000316891:p.Lys1010Asn					LIMCH1_ENST00000503057.1_Missense_Mutation_p.K1394N|LIMCH1_ENST00000509277.1_Missense_Mutation_p.K843N|LIMCH1_ENST00000514096.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000396595.3_Missense_Mutation_p.K829N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.K983N|LIMCH1_ENST00000381753.4_Missense_Mutation_p.K817N|LIMCH1_ENST00000513024.1_Missense_Mutation_p.K837N|LIMCH1_ENST00000512632.1_Missense_Mutation_p.K907N|LIMCH1_ENST00000511496.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000512946.1_Missense_Mutation_p.K984N|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000512820.1_Missense_Mutation_p.K996N	p.K1010N	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			25	3084	+			1010					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.3030G>T	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.68|15.68	2.903834|2.903834	0.52333|0.52333	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.57273|.	0.54;1.16;1.16;0.98;0.53;1.11;0.41;0.58;0.57;0.45;0.58;0.58|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Zinc finger, LIM-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64951|0.64951	0.2645|0.2645	M|M	0.62088|0.62088	1.915|1.915	0.80722|0.80722	D|D	1|1	D;P;B;D;P;P;D;B;P;B;B;B|.	0.76494|.	0.999;0.905;0.413;0.999;0.578;0.578;0.99;0.031;0.935;0.278;0.399;0.413|.	D;P;B;D;P;P;P;B;P;P;P;B|.	0.80764|.	0.993;0.723;0.178;0.994;0.704;0.704;0.854;0.11;0.646;0.458;0.659;0.178|.	T|T	0.63368|0.63368	-0.6653|-0.6653	10|5	0.87932|.	D|.	0|.	-29.9937|-29.9937	11.6899|11.6899	0.51510|0.51510	0.0808:0.0:0.9192:0.0|0.0808:0.0:0.9192:0.0	.|.	824;760;843;907;817;829;1394;837;996;983;984;1010|.	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	N|I	837;983;984;1010;907;996;1394;824;1393;824;843;829;817;336|844	ENSP00000425222:K837N;ENSP00000424825:K983N;ENSP00000424645:K984N;ENSP00000316891:K1010N;ENSP00000427045:K907N;ENSP00000424437:K996N;ENSP00000425631:K1394N;ENSP00000421242:K824N;ENSP00000426334:K824N;ENSP00000422864:K843N;ENSP00000379840:K829N;ENSP00000371172:K817N|.	ENSP00000316891:K1010N|.	K|R	+|+	3|2	2|0	LIMCH1|LIMCH1	41386316|41386316	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	2.658000|2.658000	0.46733|0.46733	2.549000|2.549000	0.85964|0.85964	0.558000|0.558000	0.71614|0.71614	AAG|AGA		0.388	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		6	26	1	0	0.0215528	1	0.0219788	6	26				
SELP	6403	broad.mit.edu	37	1	169582846	169582846	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169582846G>T	ENST00000263686.6	-	4	604	c.567C>A	c.(565-567)ttC>ttA	p.F189L	SELP_ENST00000367793.2_Missense_Mutation_p.F189L|SELP_ENST00000367788.2_Missense_Mutation_p.F189L|SELP_ENST00000367791.2_Missense_Mutation_p.F189L|SELP_ENST00000367786.2_Missense_Mutation_p.F189L|SELP_ENST00000367792.2_Missense_Mutation_p.F189L|SELP_ENST00000458599.2_Missense_Mutation_p.F189L|SELP_ENST00000367794.2_Missense_Mutation_p.F189L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	189	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CTGGCCCATAGAATCCAGGGT	0.448																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(565-567)ttC>ttA		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						129.0	113.0	119.0					1																	169582846		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169582846G>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.567C>A	1.37:g.169582846G>T	ENSP00000263686:p.Phe189Leu					SELP_ENST00000367792.2_Missense_Mutation_p.F189L|SELP_ENST00000367794.2_Missense_Mutation_p.F189L|SELP_ENST00000367788.2_Missense_Mutation_p.F189L|SELP_ENST00000367791.2_Missense_Mutation_p.F189L|SELP_ENST00000367793.2_Missense_Mutation_p.F189L|SELP_ENST00000367786.2_Missense_Mutation_p.F189L|SELP_ENST00000458599.2_Missense_Mutation_p.F189L	p.F189L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			4	604	-	all_hematologic(923;0.208)		189			EGF-like.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.567C>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.330442|4.330442	0.81690|0.81690	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88;0.88;0.88|.	5.01|5.01	4.09|4.09	0.47781|0.47781	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);|.	0.238742|.	0.30028|.	N|.	0.010596|.	T|T	0.72661|0.72661	0.3488|0.3488	M|M	0.86028|0.86028	2.79|2.79	0.45914|0.45914	D|D	0.998759|0.998759	D;D;D|.	0.76494|.	0.988;0.975;0.999|.	P;P;D|.	0.76575|.	0.635;0.557;0.988|.	T|T	0.74500|0.74500	-0.3645|-0.3645	10|5	0.46703|.	T|.	0.11|.	-33.7746|-33.7746	12.9341|12.9341	0.58303|0.58303	0.0836:0.0:0.9164:0.0|0.0836:0.0:0.9164:0.0	.|.	189;189;189|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	L|I	189;189;188;189;189;189;189;189;189;189;189;189;174|189	ENSP00000263686:F189L;ENSP00000356767:F189L;ENSP00000356768:F189L;ENSP00000356766:F189L;ENSP00000356765:F189L;ENSP00000356762:F189L;ENSP00000356760:F189L|.	ENSP00000263686:F189L|.	F|L	-|-	3|1	2|2	SELP|SELP	167849470|167849470	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	4.312000|4.312000	0.59154|0.59154	2.759000|2.759000	0.94783|0.94783	0.561000|0.561000	0.74099|0.74099	TTC|CTA		0.448	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		4	77	1	0	0.00909568	1	0.00935351	4	77				
SCN1A	6323	broad.mit.edu	37	2	166897798	166897798	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166897798G>T	ENST00000303395.4	-	13	2357	c.2358C>A	c.(2356-2358)gcC>gcA	p.A786A	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.A775A|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A758A|SCN1A_ENST00000423058.2_Silent_p.A786A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	786					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTGCTCCATGGCCATGAAAA	0.383																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(2356-2358)gcC>gcA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						92.0	83.0	86.0					2																	166897798		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897798G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2358C>A	2.37:g.166897798G>T						AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A758A|SCN1A_ENST00000375405.3_Silent_p.A775A|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.A786A	p.A786A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			13	2375	-			786					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.2358C>A	CCDS54413.1																																																																																				0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		19	42	1	0	1.33834e-09	1	1.61283e-09	19	42				
ZNF571	51276	broad.mit.edu	37	19	38056098	38056098	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38056098C>A	ENST00000328550.2	-	4	1331	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I	ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF540_ENST00000592533.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTATGAATTCTTTGATGTTG	0.373																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1231-1233)aGa>aTa		zinc finger protein 571							35.0	39.0	38.0					19																	38056098		2203	4299	6502	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056098C>A	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1232G>T	19.37:g.38056098C>A	ENSP00000333660:p.Arg411Ile					ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R411I|ZNF571_ENST00000451802.2_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R411I|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA	p.R411I			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1331	-			411					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.1232G>T	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094150	0.36952	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.24908	1.83;1.83;1.83	3.47	-0.315	0.12746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23289	0.0563	L	0.42487	1.325	0.26162	N	0.979985	P	0.48230	0.907	P	0.47102	0.537	T	0.15896	-1.0421	9	0.72032	D	0.01	.	4.1287	0.10139	0.0:0.5057:0.1742:0.32	.	411	Q7Z3V5	ZN571_HUMAN	I	411	ENSP00000333660:R411I;ENSP00000392638:R411I;ENSP00000351594:R411I	ENSP00000333660:R411I	R	-	2	0	ZNF571	42747938	0.000000	0.05858	0.627000	0.29227	0.588000	0.36517	0.100000	0.15231	0.170000	0.19704	0.305000	0.20034	AGA		0.373	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		13	17	1	0	7.93312e-07	1	8.98086e-07	13	17				
TLE4	7091	broad.mit.edu	37	9	82191078	82191078	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:82191078G>T	ENST00000376552.2	+	4	1256	c.238G>T	c.(238-240)Gaa>Taa	p.E80*	TLE4_ENST00000376520.4_Nonsense_Mutation_p.E80*|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Nonsense_Mutation_p.E80*|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376544.3_Nonsense_Mutation_p.E80*|TLE4_ENST00000265284.6_Nonsense_Mutation_p.E80*	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	80	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTTGAATATAGAAATGCACAA	0.303																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(238-240)Gaa>Taa		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							115.0	113.0	114.0					9																	82191078		1820	4072	5892	SO:0001587	stop_gained	7091							g.chr9:82191078G>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.238G>T	9.37:g.82191078G>T	ENSP00000365735:p.Glu80*					TLE4_ENST00000376544.3_Nonsense_Mutation_p.E80*|TLE4_ENST00000265284.6_Nonsense_Mutation_p.E80*|TLE4_ENST00000376552.2_Nonsense_Mutation_p.E80*|TLE4_ENST00000376537.4_Nonsense_Mutation_p.E80*|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376534.4_5'UTR	p.E80*			O60756	BCE1_HUMAN			4	1066	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Nonsense_Mutation	SNP	ENST00000376552.2	37	c.238G>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	G	38	7.175853	0.98114	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.535	20.3172	0.98658	0.0:0.0:1.0:0.0	.	.	.	.	X	80;80;80;80;80;80;80;78;65	.	ENSP00000265284:E80X	E	+	1	0	TLE4	81380898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.806000	0.99153	2.801000	0.96364	0.650000	0.86243	GAA		0.303	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		23	41	1	0	3.28513e-13	1	4.19729e-13	23	41				
DSCAM	1826	broad.mit.edu	37	21	41447035	41447035	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41447035A>G	ENST00000400454.1	-	27	5294	c.4817T>C	c.(4816-4818)gTc>gCc	p.V1606A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1606					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCAGCAAGACCCCCACCAG	0.582																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4816-4818)gTc>gCc		Down syndrome cell adhesion molecule							106.0	121.0	116.0					21																	41447035		2115	4228	6343	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41447035A>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4817T>C	21.37:g.41447035A>G	ENSP00000383303:p.Val1606Ala						p.V1606A	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			27	5294	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1606					O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4817T>C	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	6.059	0.379235	0.11466	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.60040	0.22;0.33	5.8	5.8	0.92144	.	0.410374	0.26963	N	0.021602	T	0.34483	0.0899	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15292	-1.0442	10	0.19147	T	0.46	.	10.4901	0.44746	0.928:0.0:0.072:0.0	.	1606	O60469	DSCAM_HUMAN	A	1606;1358	ENSP00000383303:V1606A;ENSP00000385342:V1358A	ENSP00000383303:V1606A	V	-	2	0	DSCAM	40368905	0.046000	0.20272	0.851000	0.33527	0.980000	0.70556	2.603000	0.46266	2.216000	0.71823	0.533000	0.62120	GTC		0.582	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		23	28	0	0	0	1	0	23	28				
SEMA5B	54437	broad.mit.edu	37	3	122630331	122630331	+	Intron	SNP	C	C	A	rs375345782		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122630331C>A	ENST00000357599.3	-	21	3478				SEMA5B_ENST00000195173.4_Missense_Mutation_p.R1031I|SEMA5B_ENST00000451055.2_Intron	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTCCGGTTTCTTTTACCTGC	0.607																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(3091-3093)aGa>aTa		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B		C		1,4401	2.1+/-5.4	0,1,2200	63.0	55.0	57.0			0.3	0.7	3		57	1,8599		0,1,4299	no	intron	SEMA5B	NM_001031702.2		0,2,6499	AA,AC,CC		0.0116,0.0227,0.0154			122630331	2,13000	2201	4300	6501	SO:0001627	intron_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122630331C>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3091+6G>T	3.37:g.122630331C>A						SEMA5B_ENST00000357599.3_Intron|SEMA5B_ENST00000451055.2_Intron	p.R1031I			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	21	3395	-			0					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.3092G>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	7.650	0.682703	0.14907	2.27E-4	1.16E-4	ENSG00000082684	ENST00000195173	T	0.33438	1.41	5.02	0.301	0.15781	.	.	.	.	.	T	0.17023	0.0409	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27331	-1.0077	6	0.23302	T	0.38	.	3.1113	0.06359	0.2587:0.3844:0.0:0.3569	.	.	.	.	I	1031	ENSP00000195173:R1031I	ENSP00000195173:R1031I	R	-	2	0	SEMA5B	124113021	0.001000	0.12720	0.700000	0.30305	0.204000	0.24138	0.157000	0.16402	0.458000	0.26988	0.655000	0.94253	AGA		0.607	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		9	17	1	0	1.12685e-05	1	1.24509e-05	9	17				
CPED1	79974	broad.mit.edu	37	7	120876773	120876773	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120876773T>C	ENST00000310396.5	+	17	2528	c.2061T>C	c.(2059-2061)tgT>tgC	p.C687C	CPED1_ENST00000450913.2_Silent_p.C687C|CPED1_ENST00000423795.1_Silent_p.C467C	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	687						endoplasmic reticulum (GO:0005783)											TGCAGGATTGTGGTTTGCTGA	0.318																																						ENST00000310396.5																			0											c.(2059-2061)tgT>tgC		cadherin-like and PC-esterase domain containing 1							95.0	95.0	95.0					7																	120876773		2203	4300	6503	SO:0001819	synonymous_variant	79974							g.chr7:120876773T>C		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2061T>C	7.37:g.120876773T>C						CPED1_ENST00000450913.2_Silent_p.C687C|CPED1_ENST00000423795.1_Silent_p.C467C	p.C687C	NM_024913.4	NP_079189.4					17	2528	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.2061T>C	CCDS34739.1																																																																																				0.318	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		15	51	0	0	0	1	0	15	51				
DMD	1756	broad.mit.edu	37	X	32404483	32404483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:32404483C>A	ENST00000357033.4	-	33	4824	c.4618G>T	c.(4618-4620)Gaa>Taa	p.E1540*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1536*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1540	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCATCAAGTTCTTTGGGATTT	0.398																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(4618-4620)Gaa>Taa		dystrophin							240.0	202.0	214.0					X																	32404483		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32404483C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4618G>T	X.37:g.32404483C>A	ENSP00000354923:p.Glu1540*					DMD_ENST00000378677.2_Nonsense_Mutation_p.E1536*	p.E1540*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			33	4824	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1540			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.4618G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	46	12.631302	0.99684	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.97	5.97	0.96955	.	0.000000	0.37530	U	0.002049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	14.8746	0.70485	0.0:0.8611:0.1389:0.0	.	.	.	.	X	1532;199;196;1536;1540;1540;1417	.	ENSP00000354923:E1540X	E	-	1	0	DMD	32314404	1.000000	0.71417	0.965000	0.40720	0.959000	0.62525	4.815000	0.62634	2.527000	0.85204	0.600000	0.82982	GAA		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		35	67	1	0	6.90743e-12	1	8.65044e-12	35	67				
OR6F1	343169	broad.mit.edu	37	1	247875344	247875344	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247875344G>T	ENST00000302084.2	-	1	761	c.714C>A	c.(712-714)ttC>ttA	p.F238L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGCACGTGGAGAAGGCTTTGC	0.522																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(712-714)ttC>ttA		olfactory receptor, family 6, subfamily F, member 1							118.0	107.0	111.0					1																	247875344		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875344G>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.714C>A	1.37:g.247875344G>T	ENSP00000305640:p.Phe238Leu					RP11-634B7.4_ENST00000449298.1_RNA	p.F238L	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	761	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		238					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.714C>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688576	0.29962	.	.	ENSG00000169214	ENST00000302084	T	0.00269	8.37	3.72	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000345	T	0.00440	0.0014	M	0.68317	2.08	0.34895	D	0.745907	D	0.76494	0.999	D	0.79108	0.992	T	0.68398	-0.5419	10	0.87932	D	0	-52.0338	11.2536	0.49041	0.1788:0.0:0.8212:0.0	.	238	Q8NGZ6	OR6F1_HUMAN	L	238	ENSP00000305640:F238L	ENSP00000305640:F238L	F	-	3	2	OR6F1	245941967	0.000000	0.05858	0.980000	0.43619	0.022000	0.10575	-1.197000	0.03038	0.048000	0.15891	-1.094000	0.02160	TTC		0.522	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		18	120	1	0	8.34094e-07	1	9.42356e-07	18	120				
CCP110	9738	broad.mit.edu	37	16	19547870	19547870	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19547870A>G	ENST00000381396.5	+	4	1126	c.879A>G	c.(877-879)ccA>ccG	p.P293P	CCP110_ENST00000396208.2_Silent_p.P293P|CCP110_ENST00000396212.2_Silent_p.P293P	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	293					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTGACAAACCAAGCCTTAATA	0.413																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(877-879)ccA>ccG		centriolar coiled coil protein 110kDa							76.0	74.0	75.0					16																	19547870		2197	4300	6497	SO:0001819	synonymous_variant	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547870A>G	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.879A>G	16.37:g.19547870A>G						CCP110_ENST00000396208.2_Silent_p.P293P|CCP110_ENST00000381396.5_Silent_p.P293P	p.P293P	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			5	1315	+			293					B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.879A>G	CCDS55992.1																																																																																				0.413	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		7	61	0	0	0	1	0	7	61				
ZNF594	84622	broad.mit.edu	37	17	5085278	5085278	+	Missense_Mutation	SNP	C	C	A	rs544261849		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5085278C>A	ENST00000399604.4	-	1	2414	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N	ZNF594_ENST00000575779.1_Missense_Mutation_p.K758N			Q96JF6	ZN594_HUMAN	zinc finger protein 594	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AATAAACTTTCTTTTCCTGGT	0.418													c|||	1	0.000199681	0.0	0.0	5008	,	,		22229	0.0		0.0	False		,,,				2504	0.001					ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(2272-2274)aaG>aaT		zinc finger protein 594							208.0	210.0	209.0					17																	5085278		1972	4166	6138	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085278C>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2274G>T	17.37:g.5085278C>A	ENSP00000382513:p.Lys758Asn					ZNF594_ENST00000575779.1_Missense_Mutation_p.K758N	p.K758N			Q96JF6	ZN594_HUMAN			1	2414	-			758					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.2274G>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	3.615	-0.078810	0.07141	.	.	ENSG00000180626	ENST00000399604	T	0.15487	2.42	1.04	-2.08	0.07254	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	L	0.47078	1.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24941	-1.0146	9	0.87932	D	0	.	3.4819	0.07605	0.2192:0.5269:0.0:0.2539	.	758	Q96JF6	ZN594_HUMAN	N	758	ENSP00000382513:K758N	ENSP00000382513:K758N	K	-	3	2	ZNF594	5026002	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.062000	0.14389	-1.859000	0.01156	-1.996000	0.00446	AAG		0.418	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		55	124	1	0	2.01807e-28	1	2.86628e-28	55	124				
NCAPG	64151	broad.mit.edu	37	4	17824682	17824682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17824682G>T	ENST00000251496.2	+	8	1371	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	399					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GATGACAAAAGAATTCATAGG	0.323																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1195-1197)Gaa>Taa		non-SMC condensin I complex, subunit G							69.0	72.0	71.0					4																	17824682		2203	4296	6499	SO:0001587	stop_gained	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17824682G>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1195G>T	4.37:g.17824682G>T	ENSP00000251496:p.Glu399*						p.E399*	NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	8	1371	+			399					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Nonsense_Mutation	SNP	ENST00000251496.2	37	c.1195G>T	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	38	6.961512	0.97964	.	.	ENSG00000109805	ENST00000251496	.	.	.	5.12	4.26	0.50523	.	0.154237	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.0949	16.0091	0.80385	0.0:0.1348:0.8652:0.0	.	.	.	.	X	399	.	ENSP00000251496:E399X	E	+	1	0	NCAPG	17433780	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.825000	0.75293	1.493000	0.48517	0.585000	0.79938	GAA		0.323	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		11	22	1	0	0.000673444	1	0.000709932	11	22				
C6orf211	79624	broad.mit.edu	37	6	151789606	151789606	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151789606T>G	ENST00000367294.3	+	5	946	c.687T>G	c.(685-687)ctT>ctG	p.L229L	C6orf211_ENST00000545879.1_Silent_p.L110L	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	229										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TGGAACATCTTTGGTCATTGC	0.343																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(685-687)ctT>ctG		chromosome 6 open reading frame 211							84.0	87.0	86.0					6																	151789606		2203	4300	6503	SO:0001819	synonymous_variant	79624						protein binding	g.chr6:151789606T>G	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.687T>G	6.37:g.151789606T>G						C6orf211_ENST00000545879.1_Silent_p.L110L	p.L229L	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	5	946	+			229					Q96FC6|Q9UFY5	Silent	SNP	ENST00000367294.3	37	c.687T>G	CCDS5233.1																																																																																				0.343	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		20	36	0	0	0	1	0	20	36				
USP13	8975	broad.mit.edu	37	3	179426653	179426653	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179426653G>A	ENST00000263966.3	+	6	1184	c.713G>A	c.(712-714)aGc>aAc	p.S238N	USP13_ENST00000496897.1_Missense_Mutation_p.S173N|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	238					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTCTTTGACAGCTCTGGGGGC	0.562																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(712-714)aGc>aAc		ubiquitin specific peptidase 13 (isopeptidase T-3)							158.0	140.0	146.0					3																	179426653		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179426653G>A	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.713G>A	3.37:g.179426653G>A	ENSP00000263966:p.Ser238Asn					USP13_ENST00000496897.1_Missense_Mutation_p.S173N|USP13_ENST00000482333.1_3'UTR	p.S238N	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		6	1184	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		238					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.713G>A	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695054	0.68386	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.29917	1.55;1.55	5.83	4.78	0.61160	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.091849	0.85682	D	0.000000	T	0.26629	0.0651	L	0.34521	1.04	0.40319	D	0.978809	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07443	-1.0772	10	0.72032	D	0.01	-21.1454	15.8222	0.78662	0.0753:0.0:0.9247:0.0	.	238;238	Q92995;A8K2S3	UBP13_HUMAN;.	N	238;173	ENSP00000263966:S238N;ENSP00000417146:S173N	ENSP00000263966:S238N	S	+	2	0	USP13	180909347	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.598000	0.82745	2.755000	0.94549	0.650000	0.86243	AGC		0.562	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			4	104	0	0	0	1	0	4	104				
BCLAF1	9774	broad.mit.edu	37	6	136597215	136597215	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597215T>G	ENST00000531224.1	-	5	1700	c.1448A>C	c.(1447-1449)aAa>aCa	p.K483T	BCLAF1_ENST00000527759.1_Missense_Mutation_p.K481T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K481T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K483T|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K481T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	483					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCAGAATTTTTGTCTTCTTC	0.358																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1447-1449)aAa>aCa		BCL2-associated transcription factor 1							148.0	156.0	153.0					6																	136597215		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597215T>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1448A>C	6.37:g.136597215T>G	ENSP00000435210:p.Lys483Thr					BCLAF1_ENST00000353331.4_Missense_Mutation_p.K481T|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K481T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K483T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K481T	p.K483T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1700	-	Colorectal(23;0.24)		483					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1448A>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.028023	0.54790	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.13420	2.79;2.78;2.8;2.8;2.78;2.59	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000003	T	0.14485	0.0350	L	0.29908	0.895	0.80722	D	1	D;D;D	0.61080	0.989;0.989;0.989	D;D;D	0.70487	0.969;0.969;0.969	T	0.09185	-1.0686	10	0.27785	T	0.31	-14.533	14.2596	0.66076	0.0:0.0:0.0:1.0	.	481;481;483	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	T	483;481;483;481;481;483	ENSP00000435210:K483T;ENSP00000229446:K481T;ENSP00000435441:K483T;ENSP00000434826:K481T;ENSP00000376159:K481T;ENSP00000431734:K483T	ENSP00000229446:K481T	K	-	2	0	BCLAF1	136638908	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.162000	0.58177	2.174000	0.68829	0.451000	0.29950	AAA		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		4	80	0	0	0	1	0	4	80				
ZNF189	7743	broad.mit.edu	37	9	104171636	104171636	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104171636G>A	ENST00000339664.2	+	3	1715	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	ZNF189_ENST00000374861.3_Missense_Mutation_p.R515Q|ZNF189_ENST00000259395.4_Missense_Mutation_p.R487Q	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	529					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AATCTTATTCGACATCAGGGT	0.423																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(1543-1545)cGa>cAa		zinc finger protein 189							97.0	96.0	96.0					9																	104171636		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104171636G>A	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1586G>A	9.37:g.104171636G>A	ENSP00000342019:p.Arg529Gln					ZNF189_ENST00000339664.2_Missense_Mutation_p.R529Q|ZNF189_ENST00000259395.4_Missense_Mutation_p.R487Q	p.R515Q	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	1828	+		Acute lymphoblastic leukemia(62;0.0559)	529					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.1544G>A	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	0.154	-1.088220	0.01873	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.36157	1.27;1.27;1.27	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.218087	0.23579	N	0.046668	T	0.27419	0.0673	L	0.53617	1.68	0.24354	N	0.994907	B;P;B	0.34826	0.294;0.471;0.294	B;B;B	0.32864	0.154;0.154;0.064	T	0.12811	-1.0533	10	0.11182	T	0.66	.	8.4196	0.32692	0.1025:0.0:0.8975:0.0	.	514;515;529	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	Q	515;529;487	ENSP00000363995:R515Q;ENSP00000342019:R529Q;ENSP00000259395:R487Q	ENSP00000259395:R487Q	R	+	2	0	ZNF189	103211457	0.000000	0.05858	1.000000	0.80357	0.870000	0.49936	-1.813000	0.01725	2.699000	0.92147	0.650000	0.86243	CGA		0.423	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		11	38	0	0	0	1	0	11	38				
IL12A-AS1	101928376	broad.mit.edu	37	3	159819008	159819008	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159819008C>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		CTCACAAGCTCTTTAGCCAAA	0.458																																						ENST00000497452.1																			0																																																			0							g.chr3:159819008C>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159819008C>A														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.458	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			16	41	1	0	1.3612e-06	1	1.53357e-06	16	41				
HDX	139324	broad.mit.edu	37	X	83730395	83730395	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:83730395C>T	ENST00000297977.5	-	2	122	c.11G>A	c.(10-12)cGt>cAt	p.R4H	HDX_ENST00000373177.2_Missense_Mutation_p.R4H|HDX_ENST00000506585.2_Intron	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	4						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R4H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAATACAGAACGTAGATTCAT	0.269																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			1	Substitution - Missense(1)	p.R4H(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(10-12)cGt>cAt		highly divergent homeobox							41.0	34.0	36.0					X																	83730395		2202	4295	6497	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83730395C>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.11G>A	X.37:g.83730395C>T	ENSP00000297977:p.Arg4His					HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Missense_Mutation_p.R4H	p.R4H	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			2	122	-			4					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.11G>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858607	0.91433	.	.	ENSG00000165259	ENST00000297977;ENST00000506585	T;T	0.61274	0.12;0.12	6.16	6.16	0.99307	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78247	-0.2278	10	0.87932	D	0	-10.6332	19.7181	0.96131	0.0:1.0:0.0:0.0	.	4	Q7Z353	HDX_HUMAN	H	4	ENSP00000297977:R4H;ENSP00000423670:R4H	ENSP00000297977:R4H	R	-	2	0	HDX	83617051	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.264000	0.78432	2.614000	0.88457	0.594000	0.82650	CGT		0.269	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		9	17	0	0	0	1	0	9	17				
LGSN	51557	broad.mit.edu	37	6	64004906	64004906	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:64004906C>A	ENST00000370657.4	-	2	108	c.75G>T	c.(73-75)atG>atT	p.M25I	LGSN_ENST00000370658.5_Missense_Mutation_p.M25I			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	25					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTAATGTGTTCATGCTGTTGG	0.343																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(73-75)atG>atT		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						265.0	238.0	247.0					6																	64004906		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64004906C>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.75G>T	6.37:g.64004906C>A	ENSP00000359691:p.Met25Ile					LGSN_ENST00000370657.4_Missense_Mutation_p.M25I	p.M25I	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			2	108	-			25					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.75G>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.026447	0.00414	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.23754	1.89;1.99	4.71	-0.622	0.11560	.	0.351400	0.38326	N	0.001729	T	0.07279	0.0184	L	0.59436	1.845	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.12156	0.007;0.001;0.0	T	0.23154	-1.0196	10	0.72032	D	0.01	-4.8379	0.637	0.00804	0.1704:0.3168:0.1662:0.3465	.	25;25;25	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	I	25	ENSP00000359692:M25I;ENSP00000359691:M25I	ENSP00000359691:M25I	M	-	3	0	LGSN	64062865	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.709000	0.05030	0.155000	0.19261	0.591000	0.81541	ATG		0.343	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		12	29	1	0	0.00010058	1	0.000108553	12	29				
ZNF680	340252	broad.mit.edu	37	7	63982573	63982573	+	Missense_Mutation	SNP	A	A	C	rs375747442		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:63982573A>C	ENST00000309683.6	-	4	710	c.559T>G	c.(559-561)Tgt>Ggt	p.C187G	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GATTTGCCACATTCTTTACAT	0.294																																						ENST00000309683.6																			0				breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(559-561)Tgt>Ggt		zinc finger protein 680							56.0	53.0	54.0					7																	63982573		2201	4298	6499	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63982573A>C	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.559T>G	7.37:g.63982573A>C	ENSP00000309330:p.Cys187Gly					ZNF680_ENST00000476563.1_5'UTR	p.C187G	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN			4	710	-		Lung NSC(55;0.118)|all_lung(88;0.243)	187					B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.559T>G	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	a	14.90	2.672395	0.47781	.	.	ENSG00000173041	ENST00000309683	D	0.99974	-10.2	1.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.99967	0.9988	H	0.97340	3.985	0.80722	D	1	P	0.35527	0.507	P	0.44477	0.451	D	0.94415	0.7635	9	0.72032	D	0.01	.	4.7382	0.12999	1.0:0.0:0.0:0.0	.	187	Q8NEM1	ZN680_HUMAN	G	187	ENSP00000309330:C187G	ENSP00000309330:C187G	C	-	1	0	ZNF680	63620008	0.973000	0.33851	0.036000	0.18154	0.407000	0.30961	4.130000	0.57964	0.588000	0.29660	0.402000	0.26972	TGT		0.294	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		9	16	0	0	0	1	0	9	16				
IDH3B	3420	broad.mit.edu	37	20	2641599	2641599	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2641599C>T	ENST00000380843.4	-	5	384	c.354G>A	c.(352-354)ccG>ccA	p.P118P	IDH3B_ENST00000380851.5_Silent_p.P118P|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	118					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.P118P(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TATACTCCATCGGGGTATGAA	0.547																																						ENST00000380843.4																			1	Substitution - coding silent(1)	p.P118P(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						c.(352-354)ccG>ccA		isocitrate dehydrogenase 3 (NAD+) beta	NADH(DB00157)						102.0	99.0	100.0					20																	2641599		2203	4300	6503	SO:0001819	synonymous_variant	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2641599C>T		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.354G>A	20.37:g.2641599C>T						IDH3B_ENST00000380851.5_Silent_p.P118P|IDH3B_ENST00000488299.1_5'UTR	p.P118P	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN			5	384	-			118					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Silent	SNP	ENST00000380843.4	37	c.354G>A	CCDS13032.1																																																																																				0.547	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			24	35	0	0	0	1	0	24	35				
ZNF781	163115	broad.mit.edu	37	19	38160724	38160724	+	Missense_Mutation	SNP	C	C	A	rs138038465		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38160724C>A	ENST00000590008.1	-	5	1178	c.326G>T	c.(325-327)aGa>aTa	p.R109I	ZNF781_ENST00000358582.4_Missense_Mutation_p.R109I|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTATGAATTCTTTGATGTCG	0.373																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(325-327)aGa>aTa		zinc finger protein 781		C	ILE/ARG	0,4406		0,0,2203	120.0	118.0	119.0		326	1.1	0.4	19	dbSNP_134	119	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF781	NM_152605.3	97	0,3,6500	AA,AC,CC		0.0349,0.0,0.0231	probably-damaging	109/328	38160724	3,13003	2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160724C>A	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.326G>T	19.37:g.38160724C>A	ENSP00000466370:p.Arg109Ile					ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.R109I	p.R109I	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	1074	-			109					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.326G>T	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720568	0.48728	0.0	3.49E-4	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.24908	1.83	2.23	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30634	0.0771	M	0.64260	1.97	0.39846	D	0.973178	P	0.39326	0.668	P	0.45167	0.472	T	0.14282	-1.0478	9	0.66056	D	0.02	.	8.7436	0.34571	0.2293:0.7707:0.0:0.0	.	109	Q8N8C0	ZN781_HUMAN	I	109	ENSP00000351391:R109I	ENSP00000351391:R109I	R	-	2	0	ZNF781	42852564	0.000000	0.05858	0.382000	0.26119	0.006000	0.05464	0.333000	0.19768	0.218000	0.20820	-0.399000	0.06403	AGA		0.373	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		30	61	1	0	1.68575e-08	1	1.99097e-08	30	61				
TTN	7273	broad.mit.edu	37	2	179444820	179444820	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179444820C>T	ENST00000591111.1	-	268	62495	c.62271G>A	c.(62269-62271)agG>agA	p.R20757R	TTN_ENST00000589042.1_Silent_p.R22398R|TTN_ENST00000342992.6_Silent_p.R19830R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.R13333R|TTN_ENST00000359218.5_Silent_p.R13458R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.R13525R|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20757	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGGATTTCCTCTCTGCAT	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(67192-67194)agG>agA		titin							188.0	180.0	183.0					2																	179444820		1900	4130	6030	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444820C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62271G>A	2.37:g.179444820C>T						RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.R13525R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.R13458R|TTN_ENST00000342992.6_Silent_p.R19830R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.R13333R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.R20757R	p.R22398R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		318	67418	-			20757			Ig-like 116.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.67194G>A																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	50	0	0	0	1	0	28	50				
GPATCH4	54865	broad.mit.edu	37	1	156565382	156565382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156565382G>A	ENST00000438976.2	-	8	781	c.751C>T	c.(751-753)Cga>Tga	p.R251*	GPATCH4_ENST00000497287.1_5'Flank|GPATCH4_ENST00000368232.4_Nonsense_Mutation_p.R246*			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	246							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTGATGTCGCCTTTTCTTC	0.458																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(736-738)Cga>Tga		G patch domain containing 4							340.0	322.0	328.0					1																	156565382		2203	4300	6503	SO:0001587	stop_gained	54865					intracellular	nucleic acid binding	g.chr1:156565382G>A	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.751C>T	1.37:g.156565382G>A	ENSP00000396441:p.Arg251*					GPATCH4_ENST00000438976.2_Nonsense_Mutation_p.R251*	p.R246*	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	868	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		246					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Nonsense_Mutation	SNP	ENST00000438976.2	37	c.736C>T	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024352	0.54683	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000415314	.	.	.	5.91	1.05	0.20165	.	2.135880	0.02049	N	0.049867	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-17.834	4.2524	0.10702	0.0757:0.1441:0.3848:0.3953	.	.	.	.	X	246;246;251;217	.	ENSP00000357212:R246X	R	-	1	2	GPATCH4	154832006	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-0.001000	0.12947	0.255000	0.21593	0.655000	0.94253	CGA		0.458	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		5	195	0	0	0	1	0	5	195				
ZNF589	51385	broad.mit.edu	37	3	48310236	48310236	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48310236G>T	ENST00000354698.3	+	4	1127	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	352					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCACCAGAGAATTCACACG	0.478																																					Colon(9;319 328 25374 27611 50948)	ENST00000354698.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(1054-1056)aGa>aTa		zinc finger protein 589							82.0	90.0	87.0					3																	48310236		2143	4272	6415	SO:0001583	missense	51385				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:48310236G>T	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.1055G>T	3.37:g.48310236G>T	ENSP00000346729:p.Arg352Ile					ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron	p.R352I	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	1127	+			352					Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	c.1055G>T	CCDS43085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.34|12.34	1.908846|1.908846	0.33721|0.33721	.|.	.|.	ENSG00000164048|ENSG00000164048	ENST00000296437|ENST00000354698	.|T	.|0.18502	.|2.21	1.07|1.07	1.07|1.07	0.20283|0.20283	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.31263	.|0.0791	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	.|D;B	.|0.71674	.|0.998;0.237	.|D;B	.|0.64877	.|0.93;0.15	.|T	.|0.14476	.|-1.0471	.|9	.|0.66056	.|D	.|0.02	.|.	3.3292|3.3292	0.07077|0.07077	0.2736:0.0:0.7264:0.0|0.2736:0.0:0.7264:0.0	.|.	.|349;352	.|Q86UQ0-2;Q86UQ0	.|.;ZN589_HUMAN	.|I	-1|352	.|ENSP00000346729:R352I	.|ENSP00000346729:R352I	.|R	+|+	.|2	.|0	ZNF589|ZNF589	48285240|48285240	0.000000|0.000000	0.05858|0.05858	0.961000|0.961000	0.40146|0.40146	0.351000|0.351000	0.29236|0.29236	0.665000|0.665000	0.25083|0.25083	0.903000|0.903000	0.36546|0.36546	0.313000|0.313000	0.20887|0.20887	.|AGA		0.478	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		25	81	1	0	3.6726e-16	1	4.87283e-16	25	81				
FBXW7	55294	broad.mit.edu	37	4	153268137	153268137	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:153268137C>T	ENST00000281708.4	-	4	1900	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	FBXW7_ENST00000263981.5_Missense_Mutation_p.R144Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R48Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R106Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R224Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	224					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGATGTAATTCGGCGTCGTTG	0.448			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(670-672)cGa>cAa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							194.0	178.0	184.0					4																	153268137		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153268137C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.671G>A	4.37:g.153268137C>T	ENSP00000281708:p.Arg224Gln					FBXW7_ENST00000296555.5_Missense_Mutation_p.R106Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R48Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R144Q	p.R224Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			4	1900	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	224					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.671G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861131	0.71949	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.55413	0.56;0.61;0.52;0.69	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	N	0.19112	0.55	0.80722	D	1	D;D;P;D	0.69078	0.983;0.994;0.648;0.997	P;P;B;D	0.66847	0.885;0.885;0.073;0.947	T	0.49781	-0.8903	10	0.15499	T	0.54	-13.0477	20.1162	0.97934	0.0:1.0:0.0:0.0	.	48;224;106;144	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	224;106;144;48	ENSP00000281708:R224Q;ENSP00000296555:R106Q;ENSP00000263981:R144Q;ENSP00000377528:R48Q	ENSP00000263981:R144Q	R	-	2	0	FBXW7	153487587	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.487000	0.81328	2.757000	0.94681	0.563000	0.77884	CGA		0.448	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			5	98	0	0	0	1	0	5	98				
DCT	1638	broad.mit.edu	37	13	95121172	95121172	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95121172G>T	ENST00000377028.5	-	2	836	c.423C>A	c.(421-423)ttC>ttA	p.F141L	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.F141L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	141					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGGCGCCCAAGAACTGCTCTC	0.567																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(421-423)ttC>ttA		dopachrome tautomerase							221.0	221.0	221.0					13																	95121172		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121172G>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.423C>A	13.37:g.95121172G>T	ENSP00000366227:p.Phe141Leu					DCT_ENST00000446125.1_Missense_Mutation_p.F141L	p.F141L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	836	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	141					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.423C>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283738	0.59867	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98968	-5.28;-5.28	5.79	4.08	0.47627	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.82923	2.615	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.989	D	0.98853	1.0759	9	.	.	.	-22.8293	9.5092	0.39067	0.2119:0.0:0.7881:0.0	.	141;141	Q09GT4;P40126	.;TYRP2_HUMAN	L	141	ENSP00000366227:F141L;ENSP00000392762:F141L	.	F	-	3	2	DCT	93919173	1.000000	0.71417	0.812000	0.32479	0.488000	0.33401	2.597000	0.46214	0.808000	0.34231	0.655000	0.94253	TTC		0.567	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			98	175	1	0	3.26951e-42	1	4.73095e-42	98	175				
RIF1	55183	broad.mit.edu	37	2	152320659	152320659	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152320659C>A	ENST00000243326.5	+	29	5108	c.4625C>A	c.(4624-4626)tCt>tAt	p.S1542Y	RIF1_ENST00000428287.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S1542Y			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAAGAGCATCTCAGGGTTTG	0.428																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(4624-4626)tCt>tAt		RAP1 interacting factor homolog (yeast)							61.0	61.0	61.0					2																	152320659		2200	4296	6496	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320659C>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4625C>A	2.37:g.152320659C>A	ENSP00000243326:p.Ser1542Tyr					RIF1_ENST00000428287.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S1542Y	p.S1542Y			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	5108	+			1542					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.4625C>A	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876871	0.72180	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.55	5.55	0.83447	.	0.120124	0.64402	D	0.000017	T	0.66287	0.2774	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68716	-0.5335	10	0.87932	D	0	-7.2049	19.0943	0.93244	0.0:1.0:0.0:0.0	.	1542;1542	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	Y	1542	ENSP00000390181:S1542Y;ENSP00000414615:S1542Y;ENSP00000415691:S1542Y;ENSP00000243326:S1542Y;ENSP00000416123:S1542Y	ENSP00000243326:S1542Y	S	+	2	0	RIF1	152028905	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.967000	0.70403	2.595000	0.87683	0.557000	0.71058	TCT		0.428	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			18	37	1	0	6.94344e-10	1	8.4399e-10	18	37				
ARAP1	116985	broad.mit.edu	37	11	72418358	72418358	+	Missense_Mutation	SNP	C	C	T	rs191461128		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72418358C>T	ENST00000393609.3	-	12	1787	c.1585G>A	c.(1585-1587)Gct>Act	p.A529T	ARAP1_ENST00000426523.1_Missense_Mutation_p.A284T|ARAP1_ENST00000429686.1_Missense_Mutation_p.A284T|ARAP1_ENST00000393605.3_Missense_Mutation_p.A289T|ARAP1_ENST00000334211.8_Missense_Mutation_p.A284T|ARAP1_ENST00000359373.5_Missense_Mutation_p.A529T|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Missense_Mutation_p.A529T	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	529	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGGGCCTCAGCGATGGCTCCC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18643	0.0		0.0	False		,,,				2504	0.0				Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1585-1587)Gct>Act		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1		C	THR/ALA,THR/ALA,THR/ALA	0,4400		0,0,2200	53.0	47.0	49.0		1585,850,850	4.5	0.6	11		49	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	ARAP1	NM_001040118.2,NM_001135190.1,NM_015242.4	58,58,58	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	529/1451,284/1134,284/1206	72418358	1,12985	2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72418358C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1585G>A	11.37:g.72418358C>T	ENSP00000377233:p.Ala529Thr					ARAP1_ENST00000393605.3_Missense_Mutation_p.A289T|ARAP1_ENST00000429686.1_Missense_Mutation_p.A284T|ARAP1_ENST00000455638.2_Missense_Mutation_p.A529T|ARAP1_ENST00000393609.3_Missense_Mutation_p.A529T|ARAP1_ENST00000334211.8_Missense_Mutation_p.A284T|ARAP1_ENST00000426523.1_Missense_Mutation_p.A284T	p.A529T			Q96P48	ARAP1_HUMAN			12	2436	-			529			PH 2.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.1585G>A	CCDS41687.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.21	2.168960	0.38315	0.0	1.16E-4	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.49	4.49	0.54785	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.311612	0.30890	N	0.008680	T	0.57592	0.2064	L	0.42686	1.345	0.19775	N	0.999954	P;P;D;P;P	0.63880	0.902;0.665;0.993;0.898;0.941	B;B;P;B;P	0.49332	0.291;0.054;0.607;0.339;0.485	T	0.50668	-0.8801	10	0.24483	T	0.36	.	10.4332	0.44419	0.0:0.905:0.0:0.095	.	284;284;529;529;289	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	T	529;529;289;284;529;284;284;318	ENSP00000352332:A529T;ENSP00000390461:A529T;ENSP00000377230:A289T;ENSP00000335506:A284T;ENSP00000377233:A529T;ENSP00000392264:A284T;ENSP00000403127:A284T	ENSP00000335506:A284T	A	-	1	0	ARAP1	72096006	0.918000	0.31147	0.628000	0.29241	0.596000	0.36781	2.522000	0.45572	2.338000	0.79540	0.655000	0.94253	GCT		0.632	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		21	31	0	0	0	1	0	21	31				
GNL2	29889	broad.mit.edu	37	1	38034732	38034732	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38034732G>A	ENST00000373062.3	-	13	1686	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	530					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R530W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AAGTTCTGCCGAACTCGTGTG	0.468																																						ENST00000373062.3																			1	Substitution - Missense(1)	p.R530W(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1588-1590)Cgg>Tgg		guanine nucleotide binding protein-like 2 (nucleolar)							160.0	147.0	152.0					1																	38034732		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38034732G>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1588C>T	1.37:g.38034732G>A	ENSP00000362153:p.Arg530Trp					GNL2_ENST00000462812.1_5'UTR	p.R530W	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			13	1686	-		Myeloproliferative disorder(586;0.0393)	530					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.1588C>T	CCDS421.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571954	0.86542	.	.	ENSG00000134697	ENST00000373062	T	0.24908	1.83	6.17	6.17	0.99709	.	0.111999	0.64402	D	0.000015	T	0.50069	0.1594	M	0.61703	1.905	0.58432	D	0.999999	D	0.76494	0.999	P	0.62885	0.908	T	0.38023	-0.9680	10	0.72032	D	0.01	-16.642	20.8794	0.99867	0.0:0.0:1.0:0.0	.	530	Q13823	NOG2_HUMAN	W	530	ENSP00000362153:R530W	ENSP00000362153:R530W	R	-	1	2	GNL2	37807319	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.338000	0.59316	2.941000	0.99782	0.655000	0.94253	CGG		0.468	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		33	45	0	0	0	1	0	33	45				
POLK	51426	broad.mit.edu	37	5	74892722	74892722	+	Missense_Mutation	SNP	C	C	A	rs373884490		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74892722C>A	ENST00000241436.4	+	13	2376	c.2204C>A	c.(2203-2205)tCt>tAt	p.S735Y	POLK_ENST00000352007.5_Missense_Mutation_p.S537Y|POLK_ENST00000508526.1_Missense_Mutation_p.S537Y|POLK_ENST00000380481.3_Missense_Mutation_p.S645Y|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	735					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCAAGCAAGTCTTTTAATATT	0.348								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(2203-2205)tCt>tAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							71.0	76.0	74.0					5																	74892722		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892722C>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2204C>A	5.37:g.74892722C>A	ENSP00000241436:p.Ser735Tyr					POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.S645Y|POLK_ENST00000352007.5_Missense_Mutation_p.S537Y|POLK_ENST00000508526.1_Missense_Mutation_p.S537Y	p.S735Y	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	2376	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	735					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.2204C>A	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	c	8.062	0.768298	0.15983	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.58210	1.16;0.35;0.35;1.16	4.11	2.32	0.28847	.	1.370030	0.04163	N	0.323450	T	0.50718	0.1632	L	0.34521	1.04	0.09310	N	1	P;P	0.44195	0.828;0.641	P;B	0.48400	0.576;0.202	T	0.33904	-0.9850	10	0.44086	T	0.13	0.1528	5.837	0.18613	0.1545:0.6621:0.0:0.1834	.	537;735	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	Y	735;537;537;645	ENSP00000241436:S735Y;ENSP00000342256:S537Y;ENSP00000426853:S537Y;ENSP00000369848:S645Y	ENSP00000241436:S735Y	S	+	2	0	POLK	74928478	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	0.271000	0.18626	0.237000	0.21200	-0.121000	0.15023	TCT		0.348	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		15	31	1	0	1.37285e-15	1	1.81125e-15	15	31				
CACNB4	785	broad.mit.edu	37	2	152739811	152739811	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152739811C>T	ENST00000539935.1	-	3	288	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	CACNB4_ENST00000201943.5_Missense_Mutation_p.R74Q|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000427385.1_Missense_Mutation_p.R56Q|CACNB4_ENST00000360283.6_Missense_Mutation_p.R40Q|CACNB4_ENST00000397327.2_Missense_Mutation_p.R27Q|CACNB4_ENST00000534999.1_Missense_Mutation_p.R40Q	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	74					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTCTCCTGTCGAATTGCTTC	0.498																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(118-120)cGa>cAa		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						157.0	163.0	161.0					2																	152739811		2129	4240	6369	SO:0001583	missense	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152739811C>T	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.221G>A	2.37:g.152739811C>T	ENSP00000438949:p.Arg74Gln					CACNB4_ENST00000427385.1_Missense_Mutation_p.R56Q|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000539935.1_Missense_Mutation_p.R74Q|CACNB4_ENST00000397327.2_Missense_Mutation_p.R27Q|CACNB4_ENST00000534999.1_Missense_Mutation_p.R40Q|CACNB4_ENST00000201943.5_Missense_Mutation_p.R74Q	p.R40Q			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	2	376	-			74					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.119G>A	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226971	0.95173	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254;ENST00000434468	D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	6.17	6.17	0.99709	Src homology-3 domain (1);	0.215450	0.47852	D	0.000216	D	0.90508	0.7026	M	0.79475	2.455	0.80722	D	1	P;D;P;P;P	0.60575	0.933;0.988;0.887;0.887;0.863	B;P;P;B;B	0.58266	0.298;0.836;0.516;0.393;0.272	D	0.90458	0.4444	10	0.87932	D	0	-13.4447	20.4745	0.99168	0.0:1.0:0.0:0.0	.	74;40;74;56;40	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	Q	74;40;31;69;40;27;56;74;74;27	ENSP00000438949:R74Q;ENSP00000353425:R40Q;ENSP00000390161:R69Q;ENSP00000443893:R40Q;ENSP00000380490:R27Q;ENSP00000410978:R56Q;ENSP00000201943:R74Q;ENSP00000399242:R27Q	ENSP00000201943:R74Q	R	-	2	0	CACNB4	152448057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.895000	0.63214	2.941000	0.99782	0.655000	0.94253	CGA		0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		28	74	0	0	0	1	0	28	74				
N4BP2L2	10443	broad.mit.edu	37	13	33111120	33111120	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33111120T>G	ENST00000267068.3	-	2	209	c.45A>C	c.(43-45)gaA>gaC	p.E15D	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.E15D|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	15					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCGTTACTTCTTCTCTAGGTC	0.313																																						ENST00000267068.3																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(43-45)gaA>gaC		NEDD4 binding protein 2-like 2							83.0	75.0	78.0					13																	33111120		2203	4300	6503	SO:0001583	missense	10443							g.chr13:33111120T>G	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.45A>C	13.37:g.33111120T>G	ENSP00000267068:p.Glu15Asp					N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.E15D|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	p.E15D	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	209	-		Lung SC(185;0.0262)	15					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.45A>C	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	4.766	0.142358	0.09083	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.49432	0.79;0.78;0.78	4.89	2.39	0.29439	.	.	.	.	.	T	0.30696	0.0773	L	0.40543	1.245	0.09310	N	0.999996	B;B	0.17038	0.02;0.02	B;B	0.15052	0.012;0.007	T	0.25572	-1.0128	9	0.21540	T	0.41	.	0.4282	0.00467	0.2372:0.1743:0.1467:0.4419	.	15;15	D6R968;Q92802	.;N42L2_HUMAN	D	15	ENSP00000394239:E15D;ENSP00000423362:E15D;ENSP00000267068:E15D	ENSP00000267068:E15D	E	-	3	2	N4BP2L2	32009120	1.000000	0.71417	0.301000	0.25044	0.533000	0.34776	0.734000	0.26101	0.222000	0.20900	0.260000	0.18958	GAA		0.313	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		12	26	0	0	0	1	0	12	26				
LIPE	3991	broad.mit.edu	37	19	42910525	42910525	+	Missense_Mutation	SNP	C	C	T	rs150484479		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42910525C>T	ENST00000244289.4	-	7	2429	c.2153G>A	c.(2152-2154)cGa>cAa	p.R718Q	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	718					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AAGGCAGATTCGTTCCCCTGT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18362	0.001		0.0	False		,,,				2504	0.0					ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(2152-2154)cGa>cAa		lipase, hormone-sensitive							48.0	47.0	48.0					19																	42910525		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42910525C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2153G>A	19.37:g.42910525C>T	ENSP00000244289:p.Arg718Gln					LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.R718Q	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			7	2429	-		Prostate(69;0.00682)	718					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.2153G>A	CCDS12607.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.5	4.164899	0.78339	.	.	ENSG00000079435	ENST00000244289	T	0.13089	2.62	4.74	4.74	0.60224	Alpha/beta hydrolase fold-3 (1);	0.459732	0.21067	N	0.080740	T	0.22322	0.0538	M	0.73753	2.245	0.43021	D	0.994579	P	0.45176	0.852	P	0.45276	0.475	T	0.01894	-1.1252	10	0.72032	D	0.01	-16.5993	11.2804	0.49190	0.0:0.9098:0.0:0.0902	.	718	Q05469	LIPS_HUMAN	Q	718	ENSP00000244289:R718Q	ENSP00000244289:R718Q	R	-	2	0	LIPE	47602365	0.982000	0.34865	0.998000	0.56505	0.946000	0.59487	0.965000	0.29319	2.367000	0.80283	0.579000	0.79373	CGA		0.647	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		13	27	0	0	0	1	0	13	27				
HOXD13	3239	broad.mit.edu	37	2	176959355	176959355	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:176959355C>T	ENST00000392539.3	+	2	929	c.929C>T	c.(928-930)tCg>tTg	p.S310L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	310					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CGGCGTATCTCGGCTGCTACG	0.448			T	NUP98	AML*																																	ENST00000392539.3				Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6						c.(928-930)tCg>tTg		homeobox D13							96.0	88.0	91.0					2																	176959355		2203	4300	6503	SO:0001583	missense	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176959355C>T	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.929C>T	2.37:g.176959355C>T	ENSP00000376322:p.Ser310Leu						p.S310L	NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	2	929	+			310						Missense_Mutation	SNP	ENST00000392539.3	37	c.929C>T	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919294	0.92249	.	.	ENSG00000128714	ENST00000392539	D	0.96992	-4.2	4.84	4.84	0.62591	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.56097	D	0.000039	D	0.98153	0.9390	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98917	1.0782	10	0.87932	D	0	.	18.5076	0.90902	0.0:1.0:0.0:0.0	.	310	P35453	HXD13_HUMAN	L	310	ENSP00000376322:S310L	ENSP00000376322:S310L	S	+	2	0	HOXD13	176667601	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.609000	0.82925	2.687000	0.91594	0.655000	0.94253	TCG		0.448	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			17	41	0	0	0	1	0	17	41				
LIMA1	51474	broad.mit.edu	37	12	50571158	50571158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50571158C>A	ENST00000341247.4	-	11	2118	c.1969G>T	c.(1969-1971)Gaa>Taa	p.E657*	LIMA1_ENST00000552491.1_Nonsense_Mutation_p.E354*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.E658*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.E496*|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.E497*|LIMA1_ENST00000547825.1_Nonsense_Mutation_p.E355*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.E498*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	657					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCTTTAGATTCTTTGTTTTGC	0.423																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(1063-1065)Gaa>Taa		LIM domain and actin binding 1							302.0	304.0	304.0					12																	50571158		2203	4300	6503	SO:0001587	stop_gained	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571158C>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1969G>T	12.37:g.50571158C>A	ENSP00000340184:p.Glu657*					LIMA1_ENST00000552823.1_Nonsense_Mutation_p.E497*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.E496*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.E498*|LIMA1_ENST00000552491.1_Nonsense_Mutation_p.E354*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.E658*|LIMA1_ENST00000341247.4_Nonsense_Mutation_p.E657*	p.E355*	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			5	2332	-			657					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Nonsense_Mutation	SNP	ENST00000341247.4	37	c.1063G>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657742	0.67586	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	.	.	.	5.84	2.87	0.33458	.	0.787571	0.12252	N	0.485555	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	8.9836	0.35980	0.0:0.7434:0.123:0.1336	.	.	.	.	X	354;355;497;658;657;498;496;576	.	ENSP00000340184:E657X	E	-	1	0	LIMA1	48857425	0.975000	0.34042	0.016000	0.15963	0.371000	0.29859	3.648000	0.54410	0.939000	0.37446	0.650000	0.86243	GAA		0.423	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		89	190	1	0	3.62344e-47	1	5.25254e-47	89	190				
MKX	283078	broad.mit.edu	37	10	28023451	28023451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:28023451C>A	ENST00000375790.5	-	5	1204	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	MKX_ENST00000419761.1_Nonsense_Mutation_p.E258*			Q8IYA7	MKX_HUMAN	mohawk homeobox	258					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCCTCAAATTCATTGGAGCTA	0.433																																						ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(772-774)Gaa>Taa		mohawk homeobox							191.0	180.0	183.0					10																	28023451		2203	4300	6503	SO:0001587	stop_gained	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023451C>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.772G>T	10.37:g.28023451C>A	ENSP00000364946:p.Glu258*					MKX_ENST00000419761.1_Nonsense_Mutation_p.E258*	p.E258*			Q8IYA7	MKX_HUMAN			5	1204	-			258					B3KWM5	Nonsense_Mutation	SNP	ENST00000375790.5	37	c.772G>T	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	C	42	9.256402	0.99117	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	.	.	.	5.99	5.99	0.97316	.	0.045054	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-32.0402	20.5371	0.99232	0.0:1.0:0.0:0.0	.	.	.	.	X	258	.	ENSP00000364946:E258X	E	-	1	0	MKX	28063457	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.438000	0.80431	2.857000	0.98124	0.650000	0.86243	GAA		0.433	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		37	71	1	0	5.43694e-19	1	7.38452e-19	37	71				
BUD31	8896	broad.mit.edu	37	7	99013774	99013774	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99013774G>A	ENST00000403633.2	+	4	637	c.108G>A	c.(106-108)ccG>ccA	p.P36P	BUD31_ENST00000222969.5_Silent_p.P36P|snoU13_ENST00000458831.1_RNA|BUD31_ENST00000456893.1_Intron|BUD31_ENST00000431419.1_Silent_p.P7P			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	36					regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P36P(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AAACAGAACCGCATGAGGGAA	0.463																																						ENST00000403633.2																			1	Substitution - coding silent(1)	p.P36P(1)	lung(1)	autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4						c.(106-108)ccG>ccA		BUD31 homolog (S. cerevisiae)							110.0	102.0	105.0					7																	99013774		2203	4300	6503	SO:0001819	synonymous_variant	8896				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:99013774G>A	BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"""G10 maternal transcript homolog (Xenopus laevis)"", ""functional spliceosome-associated protein 17"""	603477	"""BUD31 homolog (yeast)"""			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.108G>A	7.37:g.99013774G>A						BUD31_ENST00000456893.1_Intron|BUD31_ENST00000431419.1_Silent_p.P7P|BUD31_ENST00000222969.5_Silent_p.P36P	p.P36P			P41223	BUD31_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	637	+	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		36					A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Silent	SNP	ENST00000403633.2	37	c.108G>A	CCDS5663.1																																																																																				0.463	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336275.1	NM_003910		5	69	0	0	0	1	0	5	69				
MAP9	79884	broad.mit.edu	37	4	156294345	156294345	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:156294345C>A	ENST00000311277.4	-	4	687	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	MAP9_ENST00000379248.2_Missense_Mutation_p.D70Y|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.D142Y	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	142					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTTATTTTGTCTTTTTCAAAT	0.318																																						ENST00000311277.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(424-426)Gac>Tac		microtubule-associated protein 9							49.0	51.0	50.0					4																	156294345		2203	4300	6503	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156294345C>A	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.424G>T	4.37:g.156294345C>A	ENSP00000310593:p.Asp142Tyr					MAP9_ENST00000515654.1_Missense_Mutation_p.D142Y|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.D70Y	p.D142Y	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	4	687	-	all_hematologic(180;0.24)	Renal(120;0.0458)	142					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.424G>T	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634303	0.29068	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.32272	2.22;2.23;1.49;1.46	5.84	2.08	0.27032	.	0.485399	0.20957	N	0.082627	T	0.38161	0.1030	L	0.40543	1.245	0.09310	N	1	P;D;D;D	0.76494	0.867;0.999;0.988;0.988	B;D;P;P	0.69479	0.367;0.964;0.804;0.804	T	0.06991	-1.0796	10	0.87932	D	0	-0.7499	5.0911	0.14708	0.0:0.6037:0.1623:0.234	.	142;70;142;142	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	Y	142;142;142;142;70	ENSP00000310593:D142Y;ENSP00000427402:D142Y;ENSP00000394048:D142Y;ENSP00000368550:D70Y	ENSP00000310593:D142Y	D	-	1	0	MAP9	156513795	0.169000	0.23002	0.029000	0.17559	0.330000	0.28571	0.840000	0.27600	0.775000	0.33450	0.557000	0.71058	GAC		0.318	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		12	18	1	0	3.07112e-06	1	3.42433e-06	12	18				
OCLN	100506658	broad.mit.edu	37	5	68805396	68805396	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:68805396T>C	ENST00000355237.2	+	3	915	c.479T>C	c.(478-480)gTt>gCt	p.V160A	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.V160A|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.V160A	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	160	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTTACCAGTGTTATAAGATCT	0.438																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(478-480)gTt>gCt		occludin							190.0	152.0	165.0					5																	68805396		2203	4300	6503	SO:0001583	missense	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68805396T>C	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.479T>C	5.37:g.68805396T>C	ENSP00000347379:p.Val160Ala					OCLN_ENST00000396442.2_Missense_Mutation_p.V160A|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.V160A	p.V160A	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	915	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	160			MARVEL.		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.479T>C	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168076	0.78339	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;T	0.27104	1.69;1.69;1.69	5.82	5.82	0.92795	Marvel (1);MARVEL-like domain (1);	0.110120	0.64402	D	0.000009	T	0.52613	0.1745	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.56944	-0.7895	10	0.72032	D	0.01	-25.996	15.1665	0.72833	0.0:0.0:0.0:1.0	.	160	Q16625	OCLN_HUMAN	A	160	ENSP00000347379:V160A;ENSP00000379719:V160A;ENSP00000370143:V160A	ENSP00000347379:V160A	V	+	2	0	OCLN	68841152	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.245000	0.72398	2.222000	0.72286	0.533000	0.62120	GTT		0.438	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		49	72	0	0	0	1	0	49	72				
PCDHGB3	56102	broad.mit.edu	37	5	140752101	140752101	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140752101C>T	ENST00000576222.1	+	1	2271	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	714					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCTCCCTGCGCCTGCGATG	0.582																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2140-2142)Cgc>Tgc									68.0	75.0	72.0					5																	140752101		2068	4215	6283	SO:0001583	missense	0							g.chr5:140752101C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2140C>T	5.37:g.140752101C>T	ENSP00000461862:p.Arg714Cys					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.R714C	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2271	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2140C>T	CCDS58980.1																																																																																				0.582	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		20	32	0	0	0	1	0	20	32				
TXLNB	167838	broad.mit.edu	37	6	139563669	139563669	+	Silent	SNP	G	G	A	rs202149819	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139563669G>A	ENST00000358430.3	-	10	2281	c.2049C>T	c.(2047-2049)gtC>gtT	p.V683V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	683						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGGCTTAGTCGACGCCTTCCA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		17819	0.002		0.0	False		,,,				2504	0.0					ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(2047-2049)gtC>gtT		taxilin beta		G		3,4401	4.2+/-10.8	0,3,2199	39.0	45.0	43.0		2049	-9.6	0.3	6		43	0,8600		0,0,4300	no	coding-synonymous	TXLNB	NM_153235.3		0,3,6499	AA,AG,GG		0.0,0.0681,0.0231		683/685	139563669	3,13001	2202	4300	6502	SO:0001819	synonymous_variant	167838					cytoplasm		g.chr6:139563669G>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.2049C>T	6.37:g.139563669G>A						RP1-225E12.3_ENST00000585874.1_RNA	p.V683V	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	2281	-			683					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	37	c.2049C>T	CCDS34545.1																																																																																				0.582	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		10	59	0	0	0	1	0	10	59				
LOC101927079	101927079	broad.mit.edu	37	15	22332692	22332692	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22332692T>G	ENST00000558896.1	+	0	499																											AGCATCTCTTTTTCAGGATGC	0.448																																						ENST00000558896.1																			0																																																			0							g.chr15:22332692T>G																													15.37:g.22332692T>G														0	499	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.448	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			22	74	0	0	0	1	0	22	74				
ABCC2	1244	broad.mit.edu	37	10	101606730	101606730	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101606730T>C	ENST00000370449.4	+	30	4272	c.4159T>C	c.(4159-4161)Ttc>Ctc	p.F1387L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1387	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCCCATCCTGTTCTCTGGAAG	0.537																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(4159-4161)Ttc>Ctc		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						241.0	258.0	252.0					10																	101606730		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101606730T>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4159T>C	10.37:g.101606730T>C	ENSP00000359478:p.Phe1387Leu						p.F1387L	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	30	4272	+		Colorectal(252;0.234)	1387			ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.4159T>C	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902374	0.92035	.	.	ENSG00000023839	ENST00000370449	D	0.91407	-2.84	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.93025	0.7780	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93872	0.7163	10	0.87932	D	0	3.1136	14.6977	0.69134	0.0:0.0:0.0:1.0	.	1387	Q92887	MRP2_HUMAN	L	1387	ENSP00000359478:F1387L	ENSP00000359478:F1387L	F	+	1	0	ABCC2	101596720	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.809000	0.86057	2.054000	0.61138	0.528000	0.53228	TTC		0.537	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		48	362	0	0	0	1	0	48	362				
DCAF4L1	285429	broad.mit.edu	37	4	41984734	41984734	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41984734G>A	ENST00000333141.5	+	1	1022	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	309										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AAGGCAGTACGAAGGTCACGT	0.532																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(925-927)Gaa>Aaa		DDB1 and CUL4 associated factor 4-like 1							141.0	107.0	119.0					4																	41984734		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984734G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.925G>A	4.37:g.41984734G>A	ENSP00000327796:p.Glu309Lys						p.E309K	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	1022	+			309					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.925G>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747997	0.30955	.	.	ENSG00000182308	ENST00000333141	T	0.20881	2.04	0.97	0.97	0.19692	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.108661	0.64402	N	0.000003	T	0.10380	0.0254	L	0.37750	1.13	0.37780	D	0.926993	B	0.25007	0.116	B	0.04013	0.001	T	0.14392	-1.0474	10	0.10902	T	0.67	.	3.297	0.06970	0.3004:0.0:0.6995:0.0	.	309	Q3SXM0	DC4L1_HUMAN	K	309	ENSP00000327796:E309K	ENSP00000327796:E309K	E	+	1	0	DCAF4L1	41679491	1.000000	0.71417	0.015000	0.15790	0.165000	0.22458	0.595000	0.24029	0.821000	0.34540	0.313000	0.20887	GAA		0.532	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		40	81	0	0	0	1	0	40	81				
PLA2G7	7941	broad.mit.edu	37	6	46682224	46682224	+	Missense_Mutation	SNP	A	A	G	rs201022799		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46682224A>G	ENST00000274793.7	-	5	639	c.443T>C	c.(442-444)gTt>gCt	p.V148A	PLA2G7_ENST00000538237.1_Missense_Mutation_p.V103A|PLA2G7_ENST00000541026.1_Missense_Mutation_p.V21A|PLA2G7_ENST00000537365.1_Missense_Mutation_p.V148A	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	148					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ATGAGAAAAAACAACAAGTGG	0.368																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(442-444)gTt>gCt		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							113.0	111.0	112.0					6																	46682224		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46682224A>G	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.443T>C	6.37:g.46682224A>G	ENSP00000274793:p.Val148Ala					PLA2G7_ENST00000541026.1_Missense_Mutation_p.V21A|PLA2G7_ENST00000538237.1_Missense_Mutation_p.V103A|PLA2G7_ENST00000537365.1_Missense_Mutation_p.V148A	p.V148A	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		5	639	-			148					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.443T>C	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698563	0.88830	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.91	5.91	0.95273	.	0.472072	0.24823	N	0.035302	T	0.63486	0.2515	M	0.82923	2.615	0.41532	D	0.988463	P;P;P;P	0.50272	0.933;0.734;0.887;0.887	P;P;P;P	0.50860	0.55;0.652;0.583;0.583	T	0.71800	-0.4483	10	0.87932	D	0	.	14.5903	0.68359	1.0:0.0:0.0:0.0	.	21;103;148;148	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	A	148;148;103;21	ENSP00000274793:V148A;ENSP00000445666:V148A;ENSP00000441416:V103A;ENSP00000444164:V21A	ENSP00000274793:V148A	V	-	2	0	PLA2G7	46790183	1.000000	0.71417	0.520000	0.27837	0.954000	0.61252	8.744000	0.91596	2.259000	0.74868	0.528000	0.53228	GTT		0.368	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			4	75	0	0	0	1	0	4	75				
PCSK6	5046	broad.mit.edu	37	15	101938712	101938712	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101938712T>C	ENST00000348070.1	-	8	889	c.890A>G	c.(889-891)tAc>tGc	p.Y297C	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y297C|PCSK6_ENST00000331826.7_Missense_Mutation_p.Y132C|PCSK6_ENST00000398181.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y297C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	298	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATGTCGATGTAGTTGGGTCT	0.607																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(889-891)tAc>tGc		proprotein convertase subtilisin/kexin type 6							86.0	91.0	89.0					15																	101938712		2094	4256	6350	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101938712T>C		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.890A>G	15.37:g.101938712T>C	ENSP00000305056:p.Tyr297Cys					PCSK6_ENST00000398181.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000331826.7_Missense_Mutation_p.Y132C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y297C	p.Y297C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	889	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		298			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.890A>G		.	.	.	.	.	.	.	.	.	.	T	26.3	4.720280	0.89205	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.19	5.19	0.71726	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	M	0.80183	2.485	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.995;0.981;0.976;0.981;0.986;0.991;0.99;0.992	D	0.90979	0.4826	10	0.72032	D	0.01	-44.4401	14.5228	0.67863	0.0:0.0:0.0:1.0	.	298;203;297;298;297;297;298;298;297	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	C	297;297;202;297;297;132	ENSP00000305056:Y297C;ENSP00000351193:Y297C;ENSP00000344410:Y297C;ENSP00000381243:Y297C;ENSP00000332052:Y132C	ENSP00000332052:Y132C	Y	-	2	0	PCSK6	99756235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.515000	0.81761	2.079000	0.62486	0.533000	0.62120	TAC		0.607	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		46	63	0	0	0	1	0	46	63				
LAMB3	3914	broad.mit.edu	37	1	209803245	209803245	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209803245C>A	ENST00000356082.4	-	10	1103	c.969G>T	c.(967-969)gaG>gaT	p.E323D	LAMB3_ENST00000391911.1_Missense_Mutation_p.E323D|LAMB3_ENST00000367030.3_Missense_Mutation_p.E323D	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	323	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.E323D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTGACATGTCTCTGAGTGCC	0.557																																						ENST00000391911.1																			1	Substitution - Missense(1)	p.E323D(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(967-969)gaG>gaT		laminin, beta 3							86.0	81.0	82.0					1																	209803245		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209803245C>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.969G>T	1.37:g.209803245C>A	ENSP00000348384:p.Glu323Asp					LAMB3_ENST00000356082.4_Missense_Mutation_p.E323D|LAMB3_ENST00000367030.3_Missense_Mutation_p.E323D	p.E323D	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	9	1358	-			323			Laminin EGF-like 2.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.969G>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025733	0.54683	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61859	0.07;0.07;0.07	5.66	3.8	0.43715	EGF-like, laminin (3);	0.243327	0.43260	D	0.000595	T	0.34250	0.0891	N	0.16862	0.45	0.09310	N	1	B	0.22346	0.068	B	0.28011	0.085	T	0.16837	-1.0389	10	0.14656	T	0.56	.	3.3032	0.06990	0.1234:0.5635:0.1675:0.1457	.	323	Q13751	LAMB3_HUMAN	D	323	ENSP00000375778:E323D;ENSP00000348384:E323D;ENSP00000355997:E323D	ENSP00000348384:E323D	E	-	3	2	LAMB3	207869868	0.040000	0.19996	0.960000	0.40013	0.990000	0.78478	0.199000	0.17237	0.765000	0.33221	0.650000	0.86243	GAG		0.557	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		29	57	1	0	1.39806e-14	1	1.82523e-14	29	57				
MLH3	27030	broad.mit.edu	37	14	75515305	75515305	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75515305T>G	ENST00000556740.1	-	1	1089	c.1054A>C	c.(1054-1056)Aaa>Caa	p.K352Q	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.K352Q|MLH3_ENST00000238662.7_Missense_Mutation_p.K352Q|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.K352Q			Q9UHC1	MLH3_HUMAN	mutL homolog 3	352					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACAAATAATTTTTCTTGCTTT	0.363								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1054-1056)Aaa>Caa	Mismatch excision repair (MMR)	mutL homolog 3							51.0	53.0	52.0					14																	75515305		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515305T>G	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1054A>C	14.37:g.75515305T>G	ENSP00000452316:p.Lys352Gln					MLH3_ENST00000238662.7_Missense_Mutation_p.K352Q|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.K352Q|MLH3_ENST00000556257.1_Missense_Mutation_p.K352Q	p.K352Q	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1269	-			352					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1054A>C	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.430541	0.25726	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.81078	-1.4;-1.4;-1.45;-1.4	5.75	4.65	0.58169	.	0.266144	0.42548	D	0.000692	T	0.71273	0.3320	L	0.45581	1.43	0.80722	D	1	B;B	0.33883	0.225;0.43	B;B	0.26094	0.066;0.052	T	0.70706	-0.4798	10	0.33940	T	0.23	-9.1292	11.883	0.52586	0.0:0.0:0.2347:0.7653	.	352;352	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	Q	352	ENSP00000348020:K352Q;ENSP00000238662:K352Q;ENSP00000451540:K352Q;ENSP00000452316:K352Q	ENSP00000238662:K352Q	K	-	1	0	MLH3	74585058	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.383000	0.59600	2.194000	0.70268	0.533000	0.62120	AAA		0.363	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		18	19	0	0	0	1	0	18	19				
OXR1	55074	broad.mit.edu	37	8	107722985	107722985	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107722985A>C	ENST00000442977.2	+	9	1862	c.1763A>C	c.(1762-1764)aAa>aCa	p.K588T	OXR1_ENST00000517566.2_Missense_Mutation_p.K587T|OXR1_ENST00000452423.2_Missense_Mutation_p.K77T|OXR1_ENST00000445937.1_Missense_Mutation_p.K587T|OXR1_ENST00000312046.6_Missense_Mutation_p.K580T|OXR1_ENST00000531443.1_Missense_Mutation_p.K587T	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	588					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGAGATAAGAAACATGAATAT	0.358																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1759-1761)aAa>aCa		oxidation resistance 1							119.0	110.0	113.0					8																	107722985		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107722985A>C	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1763A>C	8.37:g.107722985A>C	ENSP00000405424:p.Lys588Thr					OXR1_ENST00000312046.6_Missense_Mutation_p.K580T|OXR1_ENST00000452423.2_Missense_Mutation_p.K77T|OXR1_ENST00000517566.2_Missense_Mutation_p.K587T|OXR1_ENST00000531443.1_Missense_Mutation_p.K587T|OXR1_ENST00000442977.2_Missense_Mutation_p.K588T	p.K587T	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		10	2021	+			588					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1760A>C	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.480479|4.480479	0.84747|0.84747	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046|ENST00000519415	T;T;T;T;T;T|.	0.20200|.	2.41;2.41;2.39;2.09;2.39;2.41|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.093907|.	0.64402|.	D|.	0.000001|.	T|T	0.75317|0.75317	0.3833|0.3833	M|M	0.77103|0.77103	2.36|2.36	0.52501|0.52501	D|D	0.99995|0.99995	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.992;0.999;0.999;0.994|.	T|T	0.76446|0.76446	-0.2956|-0.2956	10|5	0.51188|.	T|.	0.08|.	-29.4607|-29.4607	14.569|14.569	0.68200|0.68200	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	580;588;587;587|.	Q8N573-2;Q8N573;D3HIS6;Q8N573-5|.	.;OXR1_HUMAN;.;.|.	T|H	587;587;587;77;588;580|301	ENSP00000402918:K587T;ENSP00000431966:K587T;ENSP00000429205:K587T;ENSP00000395032:K77T;ENSP00000405424:K588T;ENSP00000311026:K580T|.	ENSP00000311026:K580T|.	K|N	+|+	2|1	0|0	OXR1|OXR1	107792161|107792161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	8.913000|8.913000	0.92730|0.92730	2.183000|2.183000	0.69458|0.69458	0.383000|0.383000	0.25322|0.25322	AAA|AAC		0.358	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		13	30	0	0	0	1	0	13	30				
IGSF3	3321	broad.mit.edu	37	1	117150700	117150700	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117150700C>A	ENST00000369486.3	-	5	1851	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N	IGSF3_ENST00000369483.1_Missense_Mutation_p.K362N|IGSF3_ENST00000318837.6_Missense_Mutation_p.K362N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	362	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGTGGTAGATCTTCAGCACAA	0.542																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1084-1086)aaG>aaT		immunoglobulin superfamily, member 3							75.0	72.0	73.0					1																	117150700		2203	4299	6502	SO:0001583	missense	3321					integral to membrane		g.chr1:117150700C>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1086G>T	1.37:g.117150700C>A	ENSP00000358498:p.Lys362Asn					IGSF3_ENST00000369483.1_Missense_Mutation_p.K362N|IGSF3_ENST00000318837.6_Missense_Mutation_p.K362N	p.K362N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1851	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	362			Ig-like C2-type 3.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1086G>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673957	0.67928	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.67865	-0.29;-0.29;-0.29	4.67	1.78	0.24846	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.112191	0.64402	D	0.000013	T	0.59321	0.2185	L	0.32530	0.975	0.53688	D	0.999975	D;D;D	0.89917	0.99;1.0;0.992	D;D;D	0.91635	0.949;0.999;0.97	T	0.62567	-0.6827	10	0.66056	D	0.02	-57.2638	8.1752	0.31278	0.0:0.73:0.0:0.27	.	362;362;362	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	N	362	ENSP00000358498:K362N;ENSP00000358495:K362N;ENSP00000321184:K362N	ENSP00000321184:K362N	K	-	3	2	IGSF3	116952223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.102000	0.41796	0.294000	0.22547	0.557000	0.71058	AAG		0.542	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		31	92	1	0	7.61001e-30	1	1.08524e-29	31	92				
DMXL1	1657	broad.mit.edu	37	5	118484688	118484688	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:118484688C>T	ENST00000311085.8	+	18	3246	c.3166C>T	c.(3166-3168)Cgt>Tgt	p.R1056C	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1056										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACATACAAATCGTTTAGCAGT	0.403																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(3166-3168)Cgt>Tgt		Dmx-like 1							158.0	154.0	156.0					5																	118484688		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118484688C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3166C>T	5.37:g.118484688C>T	ENSP00000309690:p.Arg1056Cys					DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056C	p.R1056C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3246	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1056						Missense_Mutation	SNP	ENST00000311085.8	37	c.3166C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640670	0.29157	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.38887	1.11;1.11	5.5	4.63	0.57726	.	0.048502	0.85682	D	0.000000	T	0.37320	0.0999	M	0.66378	2.025	0.58432	D	0.999999	P;P	0.52692	0.955;0.874	B;B	0.38327	0.271;0.139	T	0.39623	-0.9605	10	0.66056	D	0.02	-14.7341	8.6816	0.34212	0.2722:0.6585:0.0:0.0693	.	1056;1056	F5H269;Q9Y485	.;DMXL1_HUMAN	C	1056	ENSP00000309690:R1056C;ENSP00000439479:R1056C	ENSP00000309690:R1056C	R	+	1	0	DMXL1	118512587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.921000	0.40035	1.440000	0.47531	0.655000	0.94253	CGT		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		59	81	0	0	0	1	0	59	81				
DVL1	1855	broad.mit.edu	37	1	1284285	1284285	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1284285T>C	ENST00000378888.5	-	1	445	c.161A>G	c.(160-162)cAg>cGg	p.Q54R	DVL1_ENST00000378891.5_Missense_Mutation_p.Q54R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	54	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGAAGTCCTGGTCCATGGA	0.706																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(160-162)cAg>cGg		dishevelled segment polarity protein 1							26.0	27.0	27.0					1																	1284285		2174	4289	6463	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1284285T>C	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.161A>G	1.37:g.1284285T>C	ENSP00000368166:p.Gln54Arg					DVL1_ENST00000378891.5_Missense_Mutation_p.Q54R	p.Q54R			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	1	445	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	54			DIX.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.161A>G		.	.	.	.	.	.	.	.	.	.	t	10.55	1.381367	0.24944	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100	T;T	0.41400	1.0;1.0	3.67	2.49	0.30216	.	0.154470	0.44902	U	0.000404	T	0.29126	0.0724	L	0.48362	1.52	0.40103	D	0.976394	D	0.52996	0.957	B	0.36464	0.225	T	0.08827	-1.0703	10	0.72032	D	0.01	.	7.3124	0.26481	0.1971:0.0:0.0:0.8029	.	54	O14640-2	.	R	54	ENSP00000368169:Q54R;ENSP00000368166:Q54R	ENSP00000340031:Q54R	Q	-	2	0	DVL1	1274148	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	5.437000	0.66544	0.296000	0.22592	-0.702000	0.03669	CAG		0.706	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		11	9	0	0	0	1	0	11	9				
TTC3	7267	broad.mit.edu	37	21	38538603	38538603	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:38538603A>C	ENST00000399017.2	+	33	6834	c.4087A>C	c.(4087-4089)Aga>Cga	p.R1363R	TTC3_ENST00000355666.1_Silent_p.R1363R|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Silent_p.R1363R	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1363					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCAGCTACCAAGATCAGTACC	0.468																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(4087-4089)Aga>Cga		tetratricopeptide repeat domain 3							91.0	88.0	89.0					21																	38538603		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538603A>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.4087A>C	21.37:g.38538603A>C						TTC3_ENST00000354749.2_Silent_p.R1363R|TTC3_ENST00000355666.1_Silent_p.R1363R|TTC3_ENST00000479930.1_3'UTR	p.R1363R	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			33	6834	+		Myeloproliferative disorder(46;0.0412)	1363					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.4087A>C	CCDS13651.1																																																																																				0.468	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			41	71	0	0	0	1	0	41	71				
ST6GALNAC3	256435	broad.mit.edu	37	1	77094422	77094422	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77094422G>T	ENST00000328299.3	+	5	997	c.849G>T	c.(847-849)aaG>aaT	p.K283N		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	283					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TCACTGAAAAGAAAGTGTTTG	0.388																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(847-849)aaG>aaT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							159.0	162.0	161.0					1																	77094422		2203	4299	6502	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094422G>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.849G>T	1.37:g.77094422G>T	ENSP00000329214:p.Lys283Asn						p.K283N	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			5	997	+			283					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.849G>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	g	17.16	3.318164	0.60524	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.32023	1.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.87180	2.865	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.57757	-0.7756	10	0.66056	D	0.02	-22.2725	11.305	0.49329	0.1411:0.0:0.8589:0.0	.	182;283	B4DM98;Q8NDV1	.;SIA7C_HUMAN	N	283;282;181	ENSP00000329214:K283N	ENSP00000329214:K283N	K	+	3	2	ST6GALNAC3	76867010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.974000	0.56852	2.761000	0.94854	0.645000	0.84053	AAG		0.388	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		28	49	1	0	7.41945e-09	1	8.8016e-09	28	49				
GORAB	92344	broad.mit.edu	37	1	170508562	170508562	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:170508562C>T	ENST00000367763.3	+	2	368	c.348C>T	c.(346-348)ctC>ctT	p.L116L	GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Silent_p.L116L	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	116						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						ATTTCACTCTCACCTCCCCCG	0.468																																						ENST00000367763.3																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(346-348)ctC>ctT		golgin, RAB6-interacting							113.0	110.0	111.0					1																	170508562		2203	4300	6503	SO:0001819	synonymous_variant	92344					Golgi apparatus|nucleus		g.chr1:170508562C>T	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.348C>T	1.37:g.170508562C>T						GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Silent_p.L116L	p.L116L	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN			2	368	+			116					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Silent	SNP	ENST00000367763.3	37	c.348C>T	CCDS1289.1																																																																																				0.468	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		23	53	0	0	0	1	0	23	53				
SPRY1	10252	broad.mit.edu	37	4	124323486	124323486	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:124323486C>T	ENST00000394339.2	+	2	1080	c.740C>T	c.(739-741)tCc>tTc	p.S247F	SPRY1_ENST00000339241.1_Missense_Mutation_p.S247F	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	247	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AATCCTTGCTCCTGTTCACAA	0.458																																						ENST00000394339.2																			0				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						c.(739-741)tCc>tTc		sprouty homolog 1, antagonist of FGF signaling (Drosophila)							280.0	237.0	252.0					4																	124323486		2203	4300	6503	SO:0001583	missense	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124323486C>T	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.740C>T	4.37:g.124323486C>T	ENSP00000377871:p.Ser247Phe					SPRY1_ENST00000339241.1_Missense_Mutation_p.S247F	p.S247F	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN			2	1080	+			247			Cys-rich.|SPR.		D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	c.740C>T	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930572	0.73327	.	.	ENSG00000164056	ENST00000339241;ENST00000394339	T;T	0.68624	-0.34;-0.34	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.85710	2.77	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.85418	0.1141	9	.	.	.	-14.4102	17.6163	0.88068	0.0:1.0:0.0:0.0	.	247	O43609	SPY1_HUMAN	F	247	ENSP00000343785:S247F;ENSP00000377871:S247F	.	S	+	2	0	SPRY1	124542936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.997000	0.76270	2.541000	0.85698	0.561000	0.74099	TCC		0.458	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			41	79	0	0	0	1	0	41	79				
CHEK2P2	646096	broad.mit.edu	37	15	20496745	20496745	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:20496745C>A	ENST00000555186.1	+	0	798					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TCTTTCTTTTCTTTGAGTCTG	0.383																																						ENST00000555186.1																			0																																																			0							g.chr15:20496745C>A			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496745C>A								NR_038836.1						0	798	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.383	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		4	35	1	0	0.00909568	1	0.00935351	4	35				
MAGEL2	54551	broad.mit.edu	37	15	23889613	23889613	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:23889613G>T	ENST00000532292.1	-	1	1562	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	373	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGTAGCCCAGCTTGTTGATG	0.428																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1468-1470)Ctg>Atg		MAGE-like 2							98.0	91.0	93.0					15																	23889613		1896	4123	6019	SO:0001583	missense	54551							g.chr15:23889613G>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1468C>A	15.37:g.23889613G>T	ENSP00000433433:p.Leu490Met						p.L490M	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1562	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1468C>A		.	.	.	.	.	.	.	.	.	.	G	7.411	0.634733	0.14322	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.43	-0.723	0.11181	.	.	.	.	.	T	0.42698	0.1214	M	0.72479	2.2	0.09310	N	0.999999	.	.	.	.	.	.	T	0.41431	-0.9509	5	.	.	.	.	3.0972	0.06313	0.3455:0.0:0.4056:0.2489	.	.	.	.	R	521	.	.	S	-	3	2	MAGEL2	21440706	0.172000	0.23043	0.265000	0.24526	0.063000	0.16089	0.243000	0.18106	0.027000	0.15297	0.467000	0.42956	AGC		0.428	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		12	25	1	0	3.07112e-06	1	3.42433e-06	12	25				
CNGB3	54714	broad.mit.edu	37	8	87588271	87588271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87588271C>A	ENST00000320005.5	-	18	2238	c.2191G>T	c.(2191-2193)Gaa>Taa	p.E731*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	731					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						cctttatcttcattttctttt	0.353																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(2191-2193)Gaa>Taa		cyclic nucleotide gated channel beta 3							136.0	141.0	139.0					8																	87588271		2203	4300	6503	SO:0001587	stop_gained	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87588271C>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2191G>T	8.37:g.87588271C>A	ENSP00000316605:p.Glu731*						p.E731*	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			18	2238	-			731					C9JA51|Q9NRE9	Nonsense_Mutation	SNP	ENST00000320005.5	37	c.2191G>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723003	0.68959	.	.	ENSG00000170289	ENST00000320005	.	.	.	1.16	1.16	0.20824	.	0.835270	0.10343	U	0.686012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	7.6031	0.28087	0.0:1.0:0.0:0.0	.	.	.	.	X	731	.	ENSP00000316605:E731X	E	-	1	0	CNGB3	87657387	0.995000	0.38212	0.005000	0.12908	0.018000	0.09664	0.602000	0.24134	0.458000	0.26988	0.467000	0.42956	GAA		0.353	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		13	26	1	0	2.27111e-07	1	2.60515e-07	13	26				
IL12A	3592	broad.mit.edu	37	3	159708090	159708090	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159708090G>T	ENST00000305579.2	+	2	562	c.255G>T	c.(253-255)atG>atT	p.M85I	IL12A_ENST00000466512.1_Missense_Mutation_p.M85I|IL12A_ENST00000480787.1_Missense_Mutation_p.M85I|IL12A-AS1_ENST00000497452.1_RNA	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	51					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCAGCAACATGCTCCAGAAGG	0.592																																						ENST00000305579.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.(253-255)atG>atT		interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)							102.0	92.0	95.0					3																	159708090		2203	4300	6503	SO:0001583	missense	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159708090G>T	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.255G>T	3.37:g.159708090G>T	ENSP00000303231:p.Met85Ile					IL12A_ENST00000466512.1_Missense_Mutation_p.M85I|CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Missense_Mutation_p.M85I	p.M85I	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	562	+			51					Q96QZ1	Missense_Mutation	SNP	ENST00000305579.2	37	c.255G>T	CCDS3187.1	.	.	.	.	.	.	.	.	.	.	G	9.464	1.093907	0.20471	.	.	ENSG00000168811	ENST00000305579;ENST00000480787;ENST00000466512	.	.	.	4.72	-3.59	0.04583	.	1.035890	0.07519	N	0.910240	T	0.15912	0.0383	N	0.17082	0.46	0.09310	N	1	B	0.29671	0.254	B	0.25987	0.065	T	0.20505	-1.0273	9	0.24483	T	0.36	-0.0643	1.8244	0.03117	0.1616:0.3704:0.2167:0.2513	.	85	O60595	.	I	85	.	ENSP00000303231:M85I	M	+	3	0	IL12A	161190784	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.744000	0.01832	-0.493000	0.06678	-0.305000	0.09177	ATG		0.592	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882		31	53	1	0	1.45844e-13	1	1.87318e-13	31	53				
MCPH1	79648	broad.mit.edu	37	8	6302632	6302632	+	Silent	SNP	C	C	T	rs371566184		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:6302632C>T	ENST00000344683.5	+	8	1465	c.1389C>T	c.(1387-1389)tgC>tgT	p.C463C	MCPH1_ENST00000519480.1_Silent_p.C463C|MCPH1_ENST00000522905.1_Silent_p.C415C	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	463					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATTTTTCCTGCGTTGGCAAAA	0.443																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(1387-1389)tgC>tgT		microcephalin 1		C	,,	2,3710		0,2,1854	81.0	80.0	80.0		1389,1245,1389	0.2	0.0	8		80	0,8218		0,0,4109	no	coding-synonymous,coding-synonymous,coding-synonymous	MCPH1	NM_001172574.1,NM_001172575.1,NM_024596.3	,,	0,2,5963	TT,TC,CC		0.0,0.0539,0.0168	,,	463/611,415/563,463/836	6302632	2,11928	1856	4109	5965	SO:0001819	synonymous_variant	79648					microtubule organizing center		g.chr8:6302632C>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1389C>T	8.37:g.6302632C>T						MCPH1_ENST00000522905.1_Silent_p.C415C|MCPH1_ENST00000519480.1_Silent_p.C463C	p.C463C	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1465	+		Hepatocellular(245;0.0663)	463					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Silent	SNP	ENST00000344683.5	37	c.1389C>T	CCDS43689.1																																																																																				0.443	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		23	40	0	0	0	1	0	23	40				
WDR66	144406	broad.mit.edu	37	12	122361794	122361794	+	Silent	SNP	C	C	T	rs201116442	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:122361794C>T	ENST00000288912.4	+	3	1499	c.645C>T	c.(643-645)tcC>tcT	p.S215S	WDR66_ENST00000397454.2_Silent_p.S215S	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	215							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGAGAGTATCCGACATCCAGT	0.517													C|||	3	0.000599042	0.0	0.0	5008	,	,		16555	0.001		0.0	False		,,,				2504	0.002				Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(643-645)tcC>tcT		WD repeat domain 66							102.0	100.0	101.0					12																	122361794		1908	4125	6033	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122361794C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.645C>T	12.37:g.122361794C>T						WDR66_ENST00000397454.2_Silent_p.S215S	p.S215S	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	3	1499	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		215					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.645C>T	CCDS41853.1																																																																																				0.517	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		47	61	0	0	0	1	0	47	61				
KLC3	147700	broad.mit.edu	37	19	45853653	45853653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:45853653G>T	ENST00000391946.2	+	9	1300	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	KLC3_ENST00000470402.1_Nonsense_Mutation_p.E414*|KLC3_ENST00000585434.1_Nonsense_Mutation_p.E399*|ERCC2_ENST00000391945.4_3'UTR	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	400					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCTGTACAAAGAAATCCTCCA	0.562																																						ENST00000470402.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(1240-1242)Gaa>Taa		kinesin light chain 3							61.0	67.0	65.0					19																	45853653		1925	4120	6045	SO:0001587	stop_gained	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45853653G>T	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1198G>T	19.37:g.45853653G>T	ENSP00000375810:p.Glu400*					KLC3_ENST00000391946.2_Nonsense_Mutation_p.E400*|KLC3_ENST00000585434.1_Nonsense_Mutation_p.E399*|ERCC2_ENST00000391945.4_3'UTR	p.E414*			Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	1340	+		Ovarian(192;0.0728)|all_neural(266;0.112)	400					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Nonsense_Mutation	SNP	ENST00000391946.2	37	c.1240G>T	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	G	35	5.494854	0.96339	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	.	.	.	3.93	2.84	0.33178	.	0.159158	0.39210	N	0.001439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.8369	0.46692	0.0:0.194:0.806:0.0	.	.	.	.	X	400;414	.	ENSP00000375810:E400X	E	+	1	0	KLC3	50545493	1.000000	0.71417	0.985000	0.45067	0.742000	0.42306	6.372000	0.73123	0.799000	0.34018	0.462000	0.41574	GAA		0.562	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		20	57	1	0	1.33834e-09	1	1.61283e-09	20	57				
SMARCAD1	56916	broad.mit.edu	37	4	95158103	95158103	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95158103T>G	ENST00000354268.4	+	5	611	c.538T>G	c.(538-540)Ttg>Gtg	p.L180V	SMARCAD1_ENST00000457823.2_Splice_Site_p.L180V			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	180	CUE 1. {ECO:0000255|PROSITE- ProRule:PRU00468}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GTTCTGTTAGTTGATTGAATC	0.318																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e5-1		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							127.0	118.0	121.0					4																	95158103		2203	4300	6503	SO:0001630	splice_region_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95158103T>G	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.538-1T>G	4.37:g.95158103T>G						SMARCAD1_ENST00000457823.2_Splice_Site_p.L180_splice	p.L180_splice			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	5	611	+			180			CUE 1.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Splice_Site	SNP	ENST00000354268.4	37	c.537_splice	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801978	0.31869	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.15256	2.44;2.44;2.44	5.07	2.48	0.30137	Ubiquitin system component Cue (1);	0.000000	0.32430	N	0.006116	T	0.06600	0.0169	N	0.11560	0.145	0.80722	D	1	B;P	0.35745	0.384;0.518	B;B	0.32533	0.07;0.147	T	0.37056	-0.9722	9	.	.	.	-9.5967	4.5873	0.12289	0.0:0.1012:0.197:0.7018	.	180;180	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	V	180	ENSP00000351947:L180V;ENSP00000415576:L180V;ENSP00000346217:L180V	.	L	+	1	2	SMARCAD1	95377126	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.345000	0.33953	0.893000	0.36288	0.477000	0.44152	TTG		0.318	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	Missense_Mutation	13	35	0	0	0	1	0	13	35				
INTS4	92105	broad.mit.edu	37	11	77612494	77612494	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:77612494A>C	ENST00000534064.1	-	18	2235	c.2201T>G	c.(2200-2202)cTt>cGt	p.L734R	INTS4_ENST00000535943.1_Missense_Mutation_p.L109R|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	734					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGTTACTATAAGTTGCAAAGC	0.423																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(2200-2202)cTt>cGt		integrator complex subunit 4							211.0	186.0	194.0					11																	77612494		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77612494A>C	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2201T>G	11.37:g.77612494A>C	ENSP00000434466:p.Leu734Arg					AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.L109R	p.L734R	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		18	2235	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		734					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.2201T>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196642	0.79015	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.76535	0.4001	M	0.70275	2.135	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.79629	-0.1724	9	0.87932	D	0	-14.2267	13.0659	0.59032	1.0:0.0:0.0:0.0	.	734	Q96HW7	INT4_HUMAN	R	734;109	.	ENSP00000434466:L734R	L	-	2	0	INTS4	77290142	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	8.185000	0.89704	2.079000	0.62486	0.377000	0.23210	CTT		0.423	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		30	123	0	0	0	1	0	30	123				
RNF11	26994	broad.mit.edu	37	1	51735705	51735705	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:51735705A>C	ENST00000242719.3	+	2	687	c.201A>C	c.(199-201)caA>caC	p.Q67H	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	67					protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		large_intestine(1)	1						AAGAGGAACAAATTAGGATAG	0.408																																						ENST00000242719.3																			2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	large_intestine(1)	1						c.(199-201)caA>caC		ring finger protein 11							63.0	66.0	65.0					1																	51735705		2203	4300	6503	SO:0001583	missense	26994				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	g.chr1:51735705A>C	AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"""RING-type (C3HC4) zinc fingers"""	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.201A>C	1.37:g.51735705A>C	ENSP00000242719:p.Gln67His					RNF11_ENST00000494873.1_Intron	p.Q67H	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN			2	687	+			67					A8KAI2|Q5T7R8	Missense_Mutation	SNP	ENST00000242719.3	37	c.201A>C	CCDS556.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115723	0.77323	.	.	ENSG00000123091	ENST00000242719	T	0.19806	2.12	5.92	1.09	0.20402	.	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.72982	0.979	T	0.35126	-0.9801	10	0.72032	D	0.01	-1.674	10.5428	0.45043	0.6291:0.0:0.3709:0.0	.	67	Q9Y3C5	RNF11_HUMAN	H	67	ENSP00000242719:Q67H	ENSP00000242719:Q67H	Q	+	3	2	RNF11	51508293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.081000	0.30791	0.471000	0.27319	0.533000	0.62120	CAA		0.408	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022419.1	NM_014372		30	40	0	0	0	1	0	30	40				
KCNH6	81033	broad.mit.edu	37	17	61601590	61601590	+	Missense_Mutation	SNP	G	G	A	rs200551919		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61601590G>A	ENST00000583023.1	+	2	178	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	KCNH6_ENST00000580652.1_Missense_Mutation_p.R56Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.R56Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.R56Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.R56Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	56	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGCTACTCCCGAGTGGAGGTG	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20807	0.0		0.0	False		,,,				2504	0.0					ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(166-168)cGa>cAa		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						168.0	149.0	155.0					17																	61601590		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61601590G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.167G>A	17.37:g.61601590G>A	ENSP00000463533:p.Arg56Gln					KCNH6_ENST00000580652.1_Missense_Mutation_p.R56Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.R56Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.R56Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.R56Q	p.R56Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			2	178	+			56			PAS.		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.167G>A	CCDS11638.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	21.3	4.125259	0.77436	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99691	-6.42;-6.42	5.34	5.34	0.76211	PAS fold (1);	0.000000	0.41500	D	0.000861	D	0.99684	0.9881	M	0.79926	2.475	0.48040	D	0.999579	P;D;D	0.89917	0.689;1.0;0.993	P;D;D	0.83275	0.512;0.996;0.975	D	0.97771	1.0226	10	0.87932	D	0	.	18.6335	0.91369	0.0:0.0:1.0:0.0	.	56;56;56	Q9H252-2;Q9H252;Q9H252-3	.;KCNH6_HUMAN;.	Q	56	ENSP00000318212:R56Q;ENSP00000396900:R56Q	ENSP00000318212:R56Q	R	+	2	0	KCNH6	58955322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.808000	0.99193	2.500000	0.84329	0.561000	0.74099	CGA		0.617	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		71	125	0	0	0	1	0	71	125				
CHD8	57680	broad.mit.edu	37	14	21870647	21870647	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21870647G>T	ENST00000557364.1	-	19	3993	c.3730C>A	c.(3730-3732)Cat>Aat	p.H1244N	CHD8_ENST00000430710.3_Missense_Mutation_p.H965N|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000399982.2_Missense_Mutation_p.H1244N			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1244	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCAATTCGATGACATCGTGCC	0.418																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(3730-3732)Cat>Aat		chromodomain helicase DNA binding protein 8							64.0	62.0	63.0					14																	21870647		2203	4300	6503	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870647G>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3730C>A	14.37:g.21870647G>T	ENSP00000451601:p.His1244Asn					CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.H1244N|CHD8_ENST00000430710.3_Missense_Mutation_p.H965N	p.H1244N	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	18	3794	-	all_cancers(95;0.00121)		1244			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.3730C>A	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409224|4.409224	0.83340|0.83340	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	T;T;T|.	0.75704|.	-0.96;-0.96;-0.96|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88168|.	0.6364|.	H|H	0.96398|0.96398	3.815|3.815	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|.	0.90997|.	0.4839|.	10|.	0.87932|.	D|.	0|.	-17.2883|-17.2883	18.6545|18.6545	0.91445|0.91445	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1244;965|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	N|X	965;1244;964;1244|469	ENSP00000406288:H965N;ENSP00000382863:H1244N;ENSP00000451601:H1244N|.	ENSP00000262707:H964N|.	H|S	-|-	1|2	0|0	CHD8|CHD8	20940487|20940487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.567000|9.567000	0.98161|0.98161	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.418	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		9	23	1	0	0.00448238	1	0.00465112	9	23				
GPR89A	653519	broad.mit.edu	37	1	145765393	145765393	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145765393A>G	ENST00000313835.9	-	13	1280	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	GPR89A_ENST00000534502.1_Silent_p.I354I|GPR89A_ENST00000454423.3_Silent_p.I259I|GPR89A_ENST00000462900.2_Silent_p.I354I			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	379				I -> T (in Ref. 7; BAD96943). {ECO:0000305}.	intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATAGCAGGACAATGACATTGG	0.338																																						ENST00000313835.9																			0				breast(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(1135-1137)atT>atC		G protein-coupled receptor 89A							194.0	225.0	215.0					1																	145765393		2197	4297	6494	SO:0001819	synonymous_variant	653519				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:145765393A>G	AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.1137T>C	1.37:g.145765393A>G						GPR89A_ENST00000462900.2_Silent_p.I354I|GPR89A_ENST00000534502.1_Silent_p.I354I|GPR89A_ENST00000454423.3_Silent_p.I259I	p.I379I			B7ZAQ6	GPHRA_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		13	1280	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		379	I -> T (in Ref. 6; BAD96943).				A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Silent	SNP	ENST00000313835.9	37	c.1137T>C	CCDS41377.1																																																																																				0.338	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2	NM_001097612		37	165	0	0	0	1	0	37	165				
SPHKAP	80309	broad.mit.edu	37	2	228858265	228858265	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228858265G>T	ENST00000392056.3	-	9	4752	c.4706C>A	c.(4705-4707)tCt>tAt	p.S1569Y	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1569						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATGGGAGAAGATGGCATGCT	0.423																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4705-4707)tCt>tAt		SPHK1 interactor, AKAP domain containing							107.0	84.0	91.0					2																	228858265		1568	3582	5150	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228858265G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4706C>A	2.37:g.228858265G>T	ENSP00000375909:p.Ser1569Tyr					SPHKAP_ENST00000344657.5_Intron	p.S1569Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	9	4752	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1569					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4706C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318126	0.81469	.	.	ENSG00000153820	ENST00000392056	T	0.13420	2.59	6.06	6.06	0.98353	.	0.866628	0.09248	U	0.828271	T	0.33933	0.0880	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.00240	-1.1887	10	0.33940	T	0.23	.	17.7768	0.88511	0.0:0.0:1.0:0.0	.	1569	Q2M3C7	SPKAP_HUMAN	Y	1569	ENSP00000375909:S1569Y	ENSP00000375909:S1569Y	S	-	2	0	SPHKAP	228566509	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.394000	0.73223	2.882000	0.98803	0.655000	0.94253	TCT		0.423	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		3	5	1	0	0.115264	1	0.116507	3	5				
ZNF365	22891	broad.mit.edu	37	10	64136203	64136203	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64136203A>C	ENST00000395254.3	+	2	531	c.251A>C	c.(250-252)aAa>aCa	p.K84T	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Missense_Mutation_p.K84T|ZNF365_ENST00000410046.3_Missense_Mutation_p.K84T	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAACCGGGAAAATTGCAGAGC	0.458																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(250-252)aAa>aCa		zinc finger protein 365							98.0	95.0	96.0					10																	64136203		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64136203A>C	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.251A>C	10.37:g.64136203A>C	ENSP00000378674:p.Lys84Thr					ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Missense_Mutation_p.K84T|ZNF365_ENST00000410046.3_Missense_Mutation_p.K84T	p.K84T	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	531	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		49						Missense_Mutation	SNP	ENST00000395254.3	37	c.251A>C	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022706	0.35701	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.33865	1.39;1.39;1.39	5.61	5.61	0.85477	.	.	.	.	.	T	0.43897	0.1268	M	0.66939	2.045	0.21256	N	0.999748	D;B;P;P	0.56035	0.974;0.078;0.873;0.873	P;B;P;P	0.51415	0.669;0.053;0.466;0.466	T	0.44221	-0.9342	9	0.34782	T	0.22	-10.7103	6.518	0.22258	0.784:0.0:0.0759:0.1402	.	84;84;84;99	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	T	84	ENSP00000378674:K84T;ENSP00000378675:K84T;ENSP00000387091:K84T	ENSP00000378674:K84T	K	+	2	0	ZNF365	63806209	0.022000	0.18835	0.789000	0.31954	0.494000	0.33585	1.405000	0.34635	2.138000	0.66242	0.454000	0.30748	AAA		0.458	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		37	60	0	0	0	1	0	37	60				
SERPINA7	6906	broad.mit.edu	37	X	105280576	105280576	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105280576G>T	ENST00000327674.4	-	1	809	c.474C>A	c.(472-474)gtC>gtA	p.V158V	SERPINA7_ENST00000372563.1_Silent_p.V158V|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	158					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CGGTAGAAAAGACTTCAGTCT	0.438																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(472-474)gtC>gtA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						165.0	154.0	158.0					X																	105280576		2203	4300	6503	SO:0001819	synonymous_variant	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280576G>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.474C>A	X.37:g.105280576G>T						SERPINA7_ENST00000372563.1_Silent_p.V158V	p.V158V			P05543	THBG_HUMAN			1	809	-			158					D3DUX1	Silent	SNP	ENST00000327674.4	37	c.474C>A	CCDS14518.1																																																																																				0.438	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		55	97	1	0	1.27102e-15	1	1.67768e-15	55	97				
SLC4A3	6508	broad.mit.edu	37	2	220502517	220502517	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220502517G>A	ENST00000358055.3	+	17	3262	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R917H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R944H|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R917H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R944H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	917	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAACAGCCGCTTCCTGGGG	0.622																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2749-2751)cGc>cAc		solute carrier family 4 (anion exchanger), member 3							67.0	51.0	57.0					2																	220502517		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502517G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2750G>A	2.37:g.220502517G>A	ENSP00000350756:p.Arg917His					SLC4A3_ENST00000373760.2_Missense_Mutation_p.R917H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R944H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R944H|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R917H	p.R917H			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	3262	+		Renal(207;0.0183)	917			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2750G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286702	0.59867	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.7	4.7	0.59300	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	M	0.62723	1.935	0.58432	D	0.999993	B;P;P	0.43231	0.191;0.801;0.763	B;B;B	0.41571	0.036;0.36;0.179	T	0.78145	-0.2318	10	0.25106	T	0.35	.	18.258	0.90025	0.0:0.0:1.0:0.0	.	621;917;944	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	H	917;917;944;944;177;917	ENSP00000350756:R917H;ENSP00000362865:R917H;ENSP00000273063:R944H;ENSP00000362867:R944H;ENSP00000314006:R917H	ENSP00000273063:R944H	R	+	2	0	SLC4A3	220210761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.473000	0.45145	2.611000	0.88343	0.551000	0.68910	CGC		0.622	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		22	45	0	0	0	1	0	22	45				
ZNF337	26152	broad.mit.edu	37	20	25656309	25656309	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25656309A>G	ENST00000376436.1	-	4	2154	c.1615T>C	c.(1615-1617)Tca>Cca	p.S539P	RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.S539P|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.S507P|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTCTCCTGAGTGTGTCCTC	0.483																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1615-1617)Tca>Cca		zinc finger protein 337							99.0	87.0	91.0					20																	25656309		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25656309A>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1615T>C	20.37:g.25656309A>G	ENSP00000365619:p.Ser539Pro					ZNF337_ENST00000252979.5_Missense_Mutation_p.S539P|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.S507P	p.S539P							4	2154	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1615T>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	19.46	3.831589	0.71258	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.19250	2.16;2.16;2.16	1.29	-2.37	0.06643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20170	0.0485	M	0.75615	2.305	0.24896	N	0.992131	P;P	0.47350	0.894;0.894	B;B	0.39119	0.291;0.291	T	0.12502	-1.0545	9	0.87932	D	0	.	5.6905	0.17827	0.3071:0.0:0.0:0.6929	.	507;539	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	P	539;539;539;507	ENSP00000365619:S539P;ENSP00000252979:S539P;ENSP00000442181:S507P	ENSP00000252979:S539P	S	-	1	0	ZNF337	25604309	0.848000	0.29623	0.644000	0.29465	0.955000	0.61496	0.403000	0.20982	-0.629000	0.05575	0.248000	0.18094	TCA		0.483	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			27	58	0	0	0	1	0	27	58				
ALMS1	7840	broad.mit.edu	37	2	73675274	73675274	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73675274G>T	ENST00000264448.6	+	8	1728	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K497N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K539N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	539	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAACCAAAAGACATTAGCAG	0.428																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(1615-1617)aaG>aaT		Alstrom syndrome 1							96.0	87.0	90.0					2																	73675274		1893	4115	6008	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675274G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1617G>T	2.37:g.73675274G>T	ENSP00000264448:p.Lys539Asn					ALMS1_ENST00000409009.1_Missense_Mutation_p.K497N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K539N	p.K539N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	1728	+			539			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.1617G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501285	0.26861	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.17854	3.14;3.13;2.25	4.69	-1.66	0.08265	.	0.866462	0.09636	N	0.775643	T	0.09949	0.0244	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.15484	0.007;0.013	T	0.33343	-0.9872	10	0.49607	T	0.09	.	4.9891	0.14205	0.5278:0.1646:0.3077:0.0	.	497;539	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	N	497;539;539	ENSP00000386627:K497N;ENSP00000264448:K539N;ENSP00000366944:K539N	ENSP00000264448:K539N	K	+	3	2	ALMS1	73528782	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.070000	0.11523	-0.303000	0.08856	0.655000	0.94253	AAG		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		31	44	1	0	1.08312e-15	1	1.43e-15	31	44				
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		19	Substitution - Missense(14)|Deletion - In frame(5)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(322-324)cGt>cAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							87.0	82.0	84.0					3																	178916936		1822	4071	5893	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916936G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>A	3.37:g.178916936G>A	ENSP00000263967:p.Arg108His	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R108H	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	480	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.323G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677294	0.88445	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	0.8;-0.82	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.83714	0.0189	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	H	108	ENSP00000263967:R108H;ENSP00000417479:R108H	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			20	41	0	0	0	1	0	20	41				
DNAH7	56171	broad.mit.edu	37	2	196834764	196834764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196834764C>A	ENST00000312428.6	-	17	2213	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	705	Stem. {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						GAATAAAATTCTTCTGATTGC	0.338																																						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.(2113-2115)Gaa>Taa		dynein, axonemal, heavy chain 7							90.0	85.0	86.0					2																	196834764		1835	4074	5909	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196834764C>A	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.2113G>T	2.37:g.196834764C>A	ENSP00000311273:p.Glu705*						p.E705*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			17	2213	-			705			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.2113G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	38	6.677470	0.97755	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.51	5.51	0.81932	.	0.058793	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	19.3732	0.94498	0.0:1.0:0.0:0.0	.	.	.	.	X	705	.	ENSP00000311273:E705X	E	-	1	0	DNAH7	196543009	1.000000	0.71417	0.985000	0.45067	0.174000	0.22865	5.282000	0.65615	2.759000	0.94783	0.591000	0.81541	GAA		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		10	33	1	0	3.86212e-05	1	4.21111e-05	10	33				
PLXNC1	10154	broad.mit.edu	37	12	94692488	94692488	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94692488A>C	ENST00000258526.4	+	27	4404	c.4155A>C	c.(4153-4155)aaA>aaC	p.K1385N	PLXNC1_ENST00000547057.1_Missense_Mutation_p.K432N|PLXNC1_ENST00000545312.1_Missense_Mutation_p.K124N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1385					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGCTATAAAATACTTTTTTG	0.378																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4153-4155)aaA>aaC		plexin C1							67.0	70.0	69.0					12																	94692488		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94692488A>C	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4155A>C	12.37:g.94692488A>C	ENSP00000258526:p.Lys1385Asn					PLXNC1_ENST00000547057.1_Missense_Mutation_p.K432N|PLXNC1_ENST00000545312.1_Missense_Mutation_p.K124N	p.K1385N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			27	4404	+			1385					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.4155A>C	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379472	0.61845	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.23754	1.89;1.89;1.89	5.95	2.36	0.29203	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.37865	-0.9687	10	0.87932	D	0	.	9.5341	0.39211	0.7161:0.0:0.2839:0.0	.	432;1385	B4DHQ7;O60486	.;PLXC1_HUMAN	N	1385;432;124	ENSP00000258526:K1385N;ENSP00000446720:K432N;ENSP00000439225:K124N	ENSP00000258526:K1385N	K	+	3	2	PLXNC1	93216619	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.777000	0.26718	0.166000	0.19597	0.533000	0.62120	AAA		0.378	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			8	27	0	0	0	1	0	8	27				
CHD5	26038	broad.mit.edu	37	1	6202593	6202593	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6202593C>T	ENST00000262450.3	-	14	2215	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGAGGCCCTCCAGCTGGTAC	0.627																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2116-2118)Gag>Aag		chromodomain helicase DNA binding protein 5							125.0	89.0	101.0					1																	6202593		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202593C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2116G>A	1.37:g.6202593C>T	ENSP00000262450:p.Glu706Lys					CHD5_ENST00000378021.1_5'UTR	p.E706K	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	14	2215	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	706					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2116G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978600	0.92982	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93426	-3.22	3.43	3.43	0.39272	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.95802	0.8634	M	0.67625	2.065	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.96419	0.9310	10	0.87932	D	0	-30.4906	15.3972	0.74805	0.0:1.0:0.0:0.0	.	706	Q8TDI0	CHD5_HUMAN	K	706;222;114;114	ENSP00000262450:E706K	ENSP00000262450:E706K	E	-	1	0	CHD5	6125180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.554000	0.82212	1.895000	0.54865	0.561000	0.74099	GAG		0.627	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		34	61	0	0	0	1	0	34	61				
FAM135B	51059	broad.mit.edu	37	8	139160910	139160910	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139160910T>G	ENST00000395297.1	-	14	3471	c.3301A>C	c.(3301-3303)Aaa>Caa	p.K1101Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1101										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTTTAAATTTTTCTTTGGCC	0.368										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3301-3303)Aaa>Caa		family with sequence similarity 135, member B							39.0	39.0	39.0					8																	139160910		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139160910T>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3301A>C	8.37:g.139160910T>G	ENSP00000378710:p.Lys1101Gln	HNSCC(54;0.14)					p.K1101Q	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3471	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1101					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3301A>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112839	0.77210	.	.	ENSG00000147724	ENST00000395297	T	0.15603	2.41	5.78	5.78	0.91487	.	0.052775	0.85682	D	0.000000	T	0.39860	0.1094	M	0.64997	1.995	0.43846	D	0.996439	D;P	0.76494	0.999;0.933	D;P	0.76575	0.988;0.462	T	0.11941	-1.0567	10	0.54805	T	0.06	-16.9339	15.2978	0.73922	0.0:0.0:0.0:1.0	.	1101;1101	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	Q	1101	ENSP00000378710:K1101Q	ENSP00000378710:K1101Q	K	-	1	0	FAM135B	139230092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.789000	0.69029	2.204000	0.70986	0.528000	0.53228	AAA		0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		5	22	0	0	0	1	0	5	22				
SLC29A4	222962	broad.mit.edu	37	7	5338985	5338985	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:5338985G>A	ENST00000396872.3	+	9	1297	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R365H|SLC29A4_ENST00000297195.4_Missense_Mutation_p.R379H			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	379					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCTGAGATCCGCCACTGCATC	0.642																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(1135-1137)cGc>cAc		solute carrier family 29 (equilibrative nucleoside transporter), member 4							65.0	45.0	52.0					7																	5338985		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5338985G>A	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1136G>A	7.37:g.5338985G>A	ENSP00000380081:p.Arg379His					SLC29A4_ENST00000297195.4_Missense_Mutation_p.R379H|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R365H	p.R379H	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	9	1297	+		Ovarian(82;0.0175)	379					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.1136G>A	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	11.99	1.803924	0.31869	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.62788	0.0;0.0;0.0	4.48	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);	0.330865	0.28388	N	0.015521	T	0.39332	0.1074	N	0.11560	0.145	0.38409	D	0.945867	B;B	0.21309	0.054;0.028	B;B	0.12156	0.007;0.007	T	0.25467	-1.0131	10	0.42905	T	0.14	-8.5859	8.3825	0.32479	0.2055:0.0:0.7945:0.0	.	365;379	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	H	379;379;365	ENSP00000380081:R379H;ENSP00000297195:R379H;ENSP00000385845:R365H	ENSP00000297195:R379H	R	+	2	0	SLC29A4	5305511	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.396000	0.59684	0.862000	0.35528	0.431000	0.28591	CGC		0.642	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		7	39	0	0	0	1	0	7	39				
LYN	4067	broad.mit.edu	37	8	56922551	56922551	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56922551A>C	ENST00000519728.1	+	13	1717	c.1421A>C	c.(1420-1422)gAc>gCc	p.D474A	LYN_ENST00000520220.2_Missense_Mutation_p.D453A	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	474	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GAGCTCTATGACATTATGAAA	0.502																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1357-1359)gAc>gCc		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							88.0	80.0	82.0					8																	56922551		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56922551A>C	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1421A>C	8.37:g.56922551A>C	ENSP00000428924:p.Asp474Ala					LYN_ENST00000519728.1_Missense_Mutation_p.D474A	p.D453A	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		13	1632	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	474			Protein kinase.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.1358A>C	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230954	0.58777	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.13089	2.62;2.62	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.398854	0.31358	N	0.007800	T	0.11196	0.0273	N	0.17082	0.46	0.49389	D	0.99978	B;B	0.18863	0.031;0.0	B;B	0.16289	0.015;0.003	T	0.08391	-1.0724	10	0.54805	T	0.06	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	544;474	Q6NUK7;P07948	.;LYN_HUMAN	A	474;453	ENSP00000428924:D474A;ENSP00000428424:D453A	ENSP00000428924:D474A	D	+	2	0	LYN	57085105	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	5.140000	0.64807	2.326000	0.78906	0.533000	0.62120	GAC		0.502	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		18	74	0	0	0	1	0	18	74				
MBD4	8930	broad.mit.edu	37	3	129155479	129155479	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:129155479A>T	ENST00000249910.1	-	3	1183	c.1008T>A	c.(1006-1008)ttT>ttA	p.F336L	MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.F336L|MBD4_ENST00000429544.2_Missense_Mutation_p.F336L|MBD4_ENST00000507208.1_Missense_Mutation_p.F336L	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	336					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TGGCTGAACAAAATTTGTTTA	0.338								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(1006-1008)ttT>ttA	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							92.0	100.0	98.0					3																	129155479		2202	4300	6502	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155479A>T	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1008T>A	3.37:g.129155479A>T	ENSP00000249910:p.Phe336Leu					MBD4_ENST00000503197.1_Missense_Mutation_p.F336L|MBD4_ENST00000249910.1_Missense_Mutation_p.F336L|MBD4_ENST00000507208.1_Missense_Mutation_p.F336L|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron	p.F336L	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN			3	1203	-			336					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.1008T>A	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	A	2.295	-0.361521	0.05103	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.91124	-2.58;-2.59;-2.77;-2.79	5.65	-1.2	0.09554	.	1.902100	0.01995	N	0.045834	T	0.72708	0.3494	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.70850	-0.4760	10	0.02654	T	1	-0.0295	1.3733	0.02215	0.1333:0.2338:0.1358:0.4971	.	336;336;336;336	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	L	336	ENSP00000394080:F336L;ENSP00000249910:F336L;ENSP00000424873:F336L;ENSP00000422327:F336L	ENSP00000249910:F336L	F	-	3	2	MBD4	130638169	0.015000	0.18098	0.007000	0.13788	0.005000	0.04900	0.134000	0.15932	-0.136000	0.11475	-0.285000	0.09966	TTT		0.338	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		27	52	0	0	0	1	0	27	52				
PLA2G4B	100137049	broad.mit.edu	37	15	42136685	42136685	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42136685T>G	ENST00000452633.1	+	13	1248	c.896T>G	c.(895-897)aTt>aGt	p.I299S	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.I299S|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.I530S|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.I530S|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.I530S			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	299	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GTGGTAGCTATTATGGCCACT	0.572																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1588-1590)aTt>aGt									141.0	142.0	141.0					15																	42136685		2203	4300	6503	SO:0001583	missense	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42136685T>G	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.896T>G	15.37:g.42136685T>G	ENSP00000396045:p.Ile299Ser					JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.I299S|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.I299S|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.I530S	p.I530S	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			17	1598	+			299			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1589T>G	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	15.74	2.923984	0.52653	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	5.33	5.33	0.75918	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.478165	0.19229	N	0.119461	T	0.13072	0.0317	M	0.76838	2.35	0.09310	N	0.999999	B;B;B	0.30361	0.107;0.039;0.277	B;B;B	0.32289	0.138;0.086;0.143	T	0.06588	-1.0818	10	0.87932	D	0	-21.1506	14.5832	0.68305	0.0:0.0:0.0:1.0	.	299;530;530	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	S	530;530;299;299	ENSP00000371886:I530S;ENSP00000342785:I530S;ENSP00000416610:I299S;ENSP00000396045:I299S	ENSP00000342785:I530S	I	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39923977	0.893000	0.30496	0.022000	0.16811	0.915000	0.54546	6.459000	0.73513	2.154000	0.67381	0.459000	0.35465	ATT		0.572	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		14	179	0	0	0	1	0	14	179				
HAUS6	54801	broad.mit.edu	37	9	19093207	19093207	+	Missense_Mutation	SNP	C	C	A	rs142253364		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19093207C>A	ENST00000380502.3	-	4	865	c.398G>T	c.(397-399)aGa>aTa	p.R133I	HAUS6_ENST00000380496.1_5'UTR	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	133					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAACAAATCTTGCAAAATG	0.284																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(397-399)aGa>aTa		HAUS augmin-like complex, subunit 6							45.0	42.0	43.0					9																	19093207		2203	4296	6499	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19093207C>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.398G>T	9.37:g.19093207C>A	ENSP00000369871:p.Arg133Ile					HAUS6_ENST00000380496.1_5'UTR	p.R133I	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			4	865	-			133					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.398G>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555703	0.65425	.	.	ENSG00000147874	ENST00000380502	T	0.26518	1.73	4.87	3.03	0.35002	.	0.257048	0.44285	D	0.000473	T	0.48114	0.1482	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43718	-0.9374	10	0.72032	D	0.01	-6.8827	9.1653	0.37048	0.0:0.8282:0.0:0.1718	.	133	Q7Z4H7	HAUS6_HUMAN	I	133	ENSP00000369871:R133I	ENSP00000369871:R133I	R	-	2	0	HAUS6	19083207	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.203000	0.32284	0.469000	0.27268	0.563000	0.77884	AGA		0.284	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		14	25	1	0	0.000151284	1	0.00016287	14	25				
COL4A5	1287	broad.mit.edu	37	X	107869523	107869523	+	Missense_Mutation	SNP	G	G	A	rs377337832		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107869523G>A	ENST00000361603.2	+	36	3434	c.3190G>A	c.(3190-3192)Gac>Aac	p.D1064N	COL4A5_ENST00000328300.6_Missense_Mutation_p.D1064N	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1064	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAGAAAGGCGACAAAGGTGA	0.488									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(3190-3192)Gac>Aac		collagen, type IV, alpha 5		G	ASN/ASP,ASN/ASP	0,3835		0,0,0,1632,571	117.0	102.0	107.0		3190,3190	4.9	0.9	X		107	1,6727		0,0,1,2428,1871	no	missense,missense	COL4A5	NM_000495.3,NM_033380.1	23,23	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging	1064/1686,1064/1692	107869523	1,10562	2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107869523G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3190G>A	X.37:g.107869523G>A	ENSP00000354505:p.Asp1064Asn					COL4A5_ENST00000361603.2_Missense_Mutation_p.D1064N	p.D1064N	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			36	3434	+			1064			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.3190G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685777	0.68157	0.0	1.49E-4	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96136	-3.92;-3.92	5.76	4.88	0.63580	.	0.643100	0.16467	N	0.213133	D	0.93906	0.8050	M	0.73962	2.25	0.34757	D	0.732399	P;B;P	0.36944	0.574;0.271;0.574	B;B;B	0.31245	0.126;0.086;0.126	D	0.94622	0.7814	10	0.42905	T	0.14	.	13.2905	0.60269	0.0787:0.0:0.9213:0.0	.	1064;672;1064	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	N	1064	ENSP00000331902:D1064N;ENSP00000354505:D1064N	ENSP00000331902:D1064N	D	+	1	0	COL4A5	107756179	1.000000	0.71417	0.938000	0.37757	0.956000	0.61745	4.866000	0.63005	1.160000	0.42584	0.600000	0.82982	GAC		0.488	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			22	57	0	0	0	1	0	22	57				
SOX30	11063	broad.mit.edu	37	5	157053528	157053528	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157053528A>G	ENST00000265007.6	-	5	2423	c.2082T>C	c.(2080-2082)acT>acC	p.T694T	SOX30_ENST00000311371.5_3'UTR|SOX30_ENST00000519442.1_Silent_p.T389T	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	694					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATAGTAAGAAGTTCCATTCA	0.408																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(2080-2082)acT>acC		SRY (sex determining region Y)-box 30							129.0	108.0	115.0					5																	157053528		2203	4300	6503	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157053528A>G	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.2082T>C	5.37:g.157053528A>G						SOX30_ENST00000311371.5_3'UTR|SOX30_ENST00000519442.1_Silent_p.T389T	p.T694T	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	2423	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	694					O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.2082T>C	CCDS4339.1																																																																																				0.408	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		11	25	0	0	0	1	0	11	25				
FNDC1	84624	broad.mit.edu	37	6	159687252	159687252	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:159687252A>C	ENST00000297267.9	+	21	5621	c.5421A>C	c.(5419-5421)aaA>aaC	p.K1807N	FNDC1_ENST00000340366.6_Missense_Mutation_p.K1744N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1807					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGAGGTATAAAATCTACCTCA	0.443																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(5419-5421)aaA>aaC		fibronectin type III domain containing 1							136.0	134.0	135.0					6																	159687252		1914	4130	6044	SO:0001583	missense	84624					extracellular region		g.chr6:159687252A>C	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5421A>C	6.37:g.159687252A>C	ENSP00000297267:p.Lys1807Asn					FNDC1_ENST00000340366.6_Missense_Mutation_p.K1744N	p.K1807N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	21	5621	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1807					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5421A>C	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.54|19.54	3.846945|3.846945	0.71603|0.71603	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.56776|.	0.44;0.44|.	6.07|6.07	2.33|2.33	0.28932|0.28932	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49813|0.49813	0.1579|0.1579	M|M	0.69358|0.69358	2.11|2.11	0.51012|0.51012	D|D	0.9999|0.9999	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.48647|0.48647	-0.9017|-0.9017	9|5	.|.	.|.	.|.	-32.6994|-32.6994	9.2908|9.2908	0.37786|0.37786	0.422:0.0:0.578:0.0|0.422:0.0:0.578:0.0	.|.	1807|.	Q4ZHG4|.	FNDC1_HUMAN|.	N|H	1807;1744|1703	ENSP00000297267:K1807N;ENSP00000342460:K1744N|.	.|.	K|N	+|+	3|1	2|0	FNDC1|FNDC1	159607242|159607242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.687000|1.687000	0.37680|0.37680	0.442000|0.442000	0.26555|0.26555	-0.242000|-0.242000	0.12053|0.12053	AAA|AAT		0.443	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		34	66	0	0	0	1	0	34	66				
SLITRK1	114798	broad.mit.edu	37	13	84454778	84454778	+	Missense_Mutation	SNP	G	G	T	rs202070945		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:84454778G>T	ENST00000377084.2	-	1	1750	c.865C>A	c.(865-867)Cct>Act	p.P289T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	289					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCTTGAAAGGAGTTGGCAGG	0.542													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17470	0.0		0.0	False		,,,				2504	0.0					ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(865-867)Cct>Act		SLIT and NTRK-like family, member 1		G	THR/PRO	1,4405	2.1+/-5.4	0,1,2202	77.0	77.0	77.0		865	4.8	1.0	13		77	0,8600		0,0,4300	no	missense	SLITRK1	NM_052910.1	38	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	289/697	84454778	1,13005	2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454778G>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.865C>A	13.37:g.84454778G>T	ENSP00000366288:p.Pro289Thr						p.P289T	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1750	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	289					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.865C>A	CCDS9464.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.75	2.329274	0.41197	2.27E-4	0.0	ENSG00000178235	ENST00000377084	T	0.58210	0.35	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	N	0.11064	0.09	0.80722	D	1	B	0.17852	0.024	B	0.15870	0.014	T	0.13308	-1.0514	10	0.15066	T	0.55	-6.5717	16.699	0.85343	0.0:0.0:1.0:0.0	.	289	Q96PX8	SLIK1_HUMAN	T	289	ENSP00000366288:P289T	ENSP00000366288:P289T	P	-	1	0	SLITRK1	83352779	.	.	1.000000	0.80357	0.913000	0.54294	.	.	2.525000	0.85131	0.555000	0.69702	CCT		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		14	32	1	0	0.000219431	1	0.000235335	14	32				
DPF2	5977	broad.mit.edu	37	11	65116351	65116351	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:65116351C>T	ENST00000528416.1	+	10	1181	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	DPF2_ENST00000415073.2_Missense_Mutation_p.R166C|DPF2_ENST00000252268.4_Missense_Mutation_p.R364C	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	350					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGACTGCGATCGTGGCTACCA	0.488																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(1048-1050)Cgt>Tgt		D4, zinc and double PHD fingers family 2							222.0	178.0	193.0					11																	65116351		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65116351C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.1048C>T	11.37:g.65116351C>T	ENSP00000436901:p.Arg350Cys					DPF2_ENST00000252268.4_Missense_Mutation_p.R364C|DPF2_ENST00000415073.2_Missense_Mutation_p.R166C	p.R350C	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			10	1181	+			350					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.1048C>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449623	0.84101	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268;ENST00000531989	D;T;D;T	0.85484	-1.99;0.41;-1.99;0.41	5.7	5.7	0.88788	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38381	N	0.001704	D	0.93334	0.7875	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.963	D	0.94032	0.7302	10	0.87932	D	0	-16.1324	17.3282	0.87255	0.0:1.0:0.0:0.0	.	166;350	B4DT58;Q92785	.;REQU_HUMAN	C	350;166;364;75	ENSP00000436901:R350C;ENSP00000399714:R166C;ENSP00000252268:R364C;ENSP00000435887:R75C	ENSP00000252268:R364C	R	+	1	0	DPF2	64872927	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	3.725000	0.54970	2.696000	0.92011	0.561000	0.74099	CGT		0.488	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		23	40	0	0	0	1	0	23	40				
SCN3B	55800	broad.mit.edu	37	11	123513189	123513189	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123513189G>A	ENST00000392770.2	-	3	1212	c.410C>T	c.(409-411)aCg>aTg	p.T137M	SCN3B_ENST00000299333.3_Missense_Mutation_p.T137M|SCN3B_ENST00000530277.1_Missense_Mutation_p.T137M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	137	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGCCGCGTCGTCTTCACAAA	0.592																																						ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(409-411)aCg>aTg		sodium channel, voltage-gated, type III, beta subunit							80.0	75.0	77.0					11																	123513189		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513189G>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.410C>T	11.37:g.123513189G>A	ENSP00000376523:p.Thr137Met					SCN3B_ENST00000299333.3_Missense_Mutation_p.T137M|SCN3B_ENST00000530277.1_Missense_Mutation_p.T137M	p.T137M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	1212	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	137			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.410C>T	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262382	0.59431	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.221122	0.52532	D	0.000065	T	0.53384	0.1793	L	0.34521	1.04	0.34862	D	0.742776	D	0.54207	0.965	B	0.37047	0.24	T	0.67507	-0.5653	10	0.45353	T	0.12	0.9634	14.8759	0.70493	0.0:0.2504:0.7496:0.0	.	137	Q9NY72	SCN3B_HUMAN	M	137	ENSP00000376523:T137M;ENSP00000299333:T137M;ENSP00000432785:T137M;ENSP00000435554:T137M	ENSP00000299333:T137M	T	-	2	0	SCN3B	123018399	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.089000	0.41672	2.854000	0.98071	0.655000	0.94253	ACG		0.592	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		34	43	0	0	0	1	0	34	43				
SPATA4	132851	broad.mit.edu	37	4	177114180	177114180	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:177114180T>C	ENST00000280191.2	-	3	504	c.396A>G	c.(394-396)ggA>ggG	p.G132G	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	132						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		AATGAATTGTTCCATGGATTA	0.284																																						ENST00000280191.2																			0				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22						c.(394-396)ggA>ggG		spermatogenesis associated 4							54.0	56.0	56.0					4																	177114180		2202	4290	6492	SO:0001819	synonymous_variant	132851				apoptosis|spermatogenesis			g.chr4:177114180T>C	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.396A>G	4.37:g.177114180T>C						SPATA4_ENST00000515234.1_5'UTR	p.G132G	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	3	504	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	132					Q8NCS5|Q8WW15	Silent	SNP	ENST00000280191.2	37	c.396A>G	CCDS3826.1																																																																																				0.284	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		15	24	0	0	0	1	0	15	24				
UGT1A10	54575	broad.mit.edu	37	2	234545624	234545624	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234545624C>A	ENST00000344644.5	+	1	525	c.456C>A	c.(454-456)acC>acA	p.T152T	UGT1A10_ENST00000373445.1_Silent_p.T152T|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	152					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	CTTTTGATACCTGTGGCTTAA	0.408																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(454-456)acC>acA									143.0	147.0	145.0					2																	234545624		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234545624C>A	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.456C>A	2.37:g.234545624C>A						UGT1A10_ENST00000373445.1_Silent_p.T152T|UGT1A8_ENST00000373450.4_Intron	p.T152T	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	525	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Silent	SNP	ENST00000344644.5	37	c.456C>A	CCDS33403.1																																																																																				0.408	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		39	91	1	0	7.61001e-30	1	1.08524e-29	39	91				
GADL1	339896	broad.mit.edu	37	3	30885949	30885949	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:30885949A>C	ENST00000282538.5	-	7	811	c.661T>G	c.(661-663)Tct>Gct	p.S221A	GADL1_ENST00000454381.3_Missense_Mutation_p.S221A	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	221					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TTCTTCATAGAGTAATGACAC	0.428																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(661-663)Tct>Gct		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						127.0	127.0	127.0					3																	30885949		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30885949A>C	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.661T>G	3.37:g.30885949A>C	ENSP00000282538:p.Ser221Ala					GADL1_ENST00000282538.5_Missense_Mutation_p.S221A	p.S221A			Q6ZQY3	GADL1_HUMAN			7	707	-			221						Missense_Mutation	SNP	ENST00000282538.5	37	c.661T>G	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731307	0.89390	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.45276	0.9;0.9	5.95	5.95	0.96441	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.93420	3.415	0.47547	D	0.999458	D	0.64830	0.994	D	0.77557	0.99	T	0.81448	-0.0928	10	0.87932	D	0	-24.2692	16.4323	0.83853	1.0:0.0:0.0:0.0	.	221	Q6ZQY3	GADL1_HUMAN	A	221	ENSP00000282538:S221A;ENSP00000427059:S221A	ENSP00000282538:S221A	S	-	1	0	GADL1	30860953	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.669000	0.91163	2.281000	0.76405	0.528000	0.53228	TCT		0.428	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		41	64	0	0	0	1	0	41	64				
SLC9A6	10479	broad.mit.edu	37	X	135104832	135104832	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135104832T>G	ENST00000370698.3	+	11	1377	c.1342T>G	c.(1342-1344)Ttt>Gtt	p.F448V	SLC9A6_ENST00000370701.1_Missense_Mutation_p.F428V|SLC9A6_ENST00000370695.4_Missense_Mutation_p.F480V	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	448					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGGATCAAATTTTCAACACAT	0.378																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1438-1440)Ttt>Gtt		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							141.0	110.0	120.0					X																	135104832		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135104832T>G	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1342T>G	X.37:g.135104832T>G	ENSP00000359732:p.Phe448Val					SLC9A6_ENST00000370701.1_Missense_Mutation_p.F428V|SLC9A6_ENST00000370698.3_Missense_Mutation_p.F448V	p.F480V	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			11	1473	+	Acute lymphoblastic leukemia(192;0.000127)		448					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1438T>G	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015294	0.54468	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.15256	2.44;2.44;2.44	5.5	5.5	0.81552	Cation/H+ exchanger (1);	0.046124	0.85682	D	0.000000	T	0.26666	0.0652	M	0.74881	2.28	0.58432	D	0.999997	B;B	0.23058	0.059;0.079	B;B	0.35899	0.025;0.213	T	0.07028	-1.0794	10	0.56958	D	0.05	.	9.876	0.41205	0.0:0.0832:0.0:0.9168	.	480;448	Q92581-2;Q92581	.;SL9A6_HUMAN	V	428;448;480	ENSP00000359735:F428V;ENSP00000359732:F448V;ENSP00000359729:F480V	ENSP00000359729:F480V	F	+	1	0	SLC9A6	134932498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.861000	0.56002	1.837000	0.53436	0.486000	0.48141	TTT		0.378	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		11	33	0	0	0	1	0	11	33				
DGKA	1606	broad.mit.edu	37	12	56331252	56331252	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56331252C>A	ENST00000331886.5	+	4	653	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	DGKA_ENST00000394147.1_Missense_Mutation_p.P67T|DGKA_ENST00000551156.1_Missense_Mutation_p.P67T	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	67					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GGATAATGTTCCCAGACACCT	0.463																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(199-201)Ccc>Acc		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						151.0	137.0	141.0					12																	56331252		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56331252C>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.199C>A	12.37:g.56331252C>A	ENSP00000328405:p.Pro67Thr					DGKA_ENST00000394147.1_Missense_Mutation_p.P67T|DGKA_ENST00000551156.1_Missense_Mutation_p.P67T	p.P67T	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			4	653	+			67					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.199C>A	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555397	0.65425	.	.	ENSG00000065357	ENST00000331886;ENST00000549368;ENST00000394147;ENST00000551156;ENST00000553783;ENST00000432422;ENST00000556001;ENST00000551707	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.43	4.43	0.53597	.	0.117022	0.64402	D	0.000018	D	0.82600	0.5072	M	0.62723	1.935	0.51767	D	0.999933	D;D;P	0.69078	0.997;0.98;0.706	D;P;P	0.79784	0.993;0.697;0.554	T	0.82121	-0.0614	9	.	.	.	.	12.7474	0.57289	0.0:1.0:0.0:0.0	.	67;67;67	Q3ZE25;B4E0C6;P23743	.;.;DGKA_HUMAN	T	67	ENSP00000328405:P67T;ENSP00000447050:P67T;ENSP00000377703:P67T;ENSP00000450359:P67T;ENSP00000450999:P67T;ENSP00000402307:P67T;ENSP00000451266:P67T;ENSP00000447460:P67T	.	P	+	1	0	DGKA	54617519	1.000000	0.71417	0.683000	0.30040	0.397000	0.30659	4.208000	0.58486	2.469000	0.83416	0.462000	0.41574	CCC		0.463	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			7	84	1	0	0.000157383	1	0.000169016	7	84				
ZNF530	348327	broad.mit.edu	37	19	58118092	58118092	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58118092T>G	ENST00000332854.6	+	3	1419	c.1199T>G	c.(1198-1200)tTt>tGt	p.F400C	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	400					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACCAAAGATTTCACACTGGA	0.423																																						ENST00000332854.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(1198-1200)tTt>tGt		zinc finger protein 530							103.0	98.0	100.0					19																	58118092		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58118092T>G	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1199T>G	19.37:g.58118092T>G	ENSP00000332861:p.Phe400Cys					ZNF530_ENST00000597864.1_Intron	p.F400C	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1419	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	400					O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.1199T>G	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.377473	0.24944	.	.	ENSG00000183647	ENST00000332854	T	0.18338	2.22	2.39	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	N	0.11341	0.13	0.09310	N	1	D	0.57571	0.98	B	0.42245	0.381	T	0.19321	-1.0309	9	0.49607	T	0.09	.	3.5607	0.07881	0.0:0.1397:0.2278:0.6325	.	400	Q6P9A1	ZN530_HUMAN	C	400	ENSP00000332861:F400C	ENSP00000332861:F400C	F	+	2	0	ZNF530	62809904	0.000000	0.05858	0.472000	0.27241	0.696000	0.40369	0.011000	0.13264	0.165000	0.19558	0.496000	0.49642	TTT		0.423	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		56	69	0	0	0	1	0	56	69				
SDHAP3	728609	broad.mit.edu	37	5	1589452	1589452	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1589452G>A	ENST00000436493.2	-	0	426									succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3																		CTTCCCCAGCGTTTGGTTTAA	0.353																																						ENST00000436493.2																			0																																																			0							g.chr5:1589452G>A			5p15.33	2014-03-20	2006-11-21	2006-11-21	ENSG00000185986	ENSG00000185986			18781	pseudogene	pseudogene	"""similar to succinate dehydrogenase flavoprotein subunit"""		"""succinate dehydrogenase complex, subunit A, flavoprotein-like"", ""SDHA C-terminal like"""	SDHAL, SDHACL			Standard	NR_003263		Approved		uc011cmd.2		OTTHUMG00000161733		5.37:g.1589452G>A														0	426	-									RNA	SNP	ENST00000436493.2	37																																																																																						0.353	SDHAP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000365894.1			13	15	0	0	0	1	0	13	15				
MBD5	55777	broad.mit.edu	37	2	149226980	149226980	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149226980C>T	ENST00000407073.1	+	9	2465	c.1468C>T	c.(1468-1470)Ccc>Tcc	p.P490S	MBD5_ENST00000404807.1_Missense_Mutation_p.P490S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	490					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAAGGTTCCACCCAGGTCACC	0.493																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(1468-1470)Ccc>Tcc		methyl-CpG binding domain protein 5							77.0	78.0	78.0					2																	149226980		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226980C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1468C>T	2.37:g.149226980C>T	ENSP00000386049:p.Pro490Ser					MBD5_ENST00000404807.1_Missense_Mutation_p.P490S	p.P490S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	2465	+			490					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.1468C>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432734	0.25813	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.58797	0.36;0.31	4.92	4.92	0.64577	.	0.000000	0.53938	D	0.000041	T	0.41236	0.1150	N	0.14661	0.345	0.58432	D	0.999992	B	0.22541	0.071	B	0.28011	0.085	T	0.30504	-0.9976	10	0.34782	T	0.22	-3.0746	11.9301	0.52841	0.0:0.9199:0.0:0.0801	.	490	Q9P267	MBD5_HUMAN	S	490	ENSP00000386049:P490S;ENSP00000384672:P490S	ENSP00000384672:P490S	P	+	1	0	MBD5	148943450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.419000	0.59835	2.445000	0.82738	0.655000	0.94253	CCC		0.493	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			11	67	0	0	0	1	0	11	67				
MFF	56947	broad.mit.edu	37	2	228221712	228221712	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228221712T>C	ENST00000353339.3	+	11	1349	c.908T>C	c.(907-909)cTa>cCa	p.L303P	MFF_ENST00000409616.1_Missense_Mutation_p.L199P|MFF_ENST00000524634.1_Missense_Mutation_p.L50P|MFF_ENST00000392059.1_Missense_Mutation_p.L303P|MFF_ENST00000349901.7_Missense_Mutation_p.L199P|MFF_ENST00000409565.1_Missense_Mutation_p.L179P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.L204P|MFF_ENST00000304593.9_Missense_Mutation_p.L252P|MFF_ENST00000354503.6_Missense_Mutation_p.L179P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	303					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						ATAATCAAACTAAATAGACGT	0.308																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(907-909)cTa>cCa		mitochondrial fission factor							83.0	87.0	85.0					2																	228221712		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228221712T>C	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.908T>C	2.37:g.228221712T>C	ENSP00000302037:p.Leu303Pro					MFF_ENST00000354503.6_Missense_Mutation_p.L179P|MFF_ENST00000304593.9_Missense_Mutation_p.L252P|MFF_ENST00000524634.1_Missense_Mutation_p.L50P|MFF_ENST00000349901.7_Missense_Mutation_p.L199P|MFF_ENST00000337110.7_Missense_Mutation_p.L204P|MFF_ENST00000409616.1_Missense_Mutation_p.L199P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000392059.1_Missense_Mutation_p.L303P|MFF_ENST00000409565.1_Missense_Mutation_p.L179P	p.L303P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			11	1349	+			303					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.908T>C	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079464	0.76528	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000409616;ENST00000337110;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.52983	0.64;0.64	6.07	6.07	0.98685	.	0.066761	0.64402	D	0.000015	T	0.68044	0.2958	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;0.999	D;D;D;D;D	0.80764	0.982;0.994;0.987;0.94;0.98	T	0.70687	-0.4803	10	0.87932	D	0	-14.9335	16.6407	0.85098	0.0:0.0:0.0:1.0	.	179;204;199;252;303	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;Q9GZY8-2;Q9GZY8	.;.;.;.;MFF_HUMAN	P	252;303;179;179;199;204;50;199;303;115	ENSP00000302037:L303P;ENSP00000375912:L303P	ENSP00000304898:L252P	L	+	2	0	MFF	227929956	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.378000	0.79679	2.326000	0.78906	0.533000	0.62120	CTA		0.308	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		6	109	0	0	0	1	0	6	109				
FGA	2243	broad.mit.edu	37	4	155505567	155505567	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155505567G>A	ENST00000302053.3	-	6	2388	c.2310C>T	c.(2308-2310)tcC>tcT	p.S770S		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	770	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|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)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCCTCTACGGAACCCTCAA	0.527																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(2308-2310)tcC>tcT		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						135.0	128.0	131.0					4																	155505567		2203	4300	6503	SO:0001819	synonymous_variant	2243				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.chr4:155505567G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2310C>T	4.37:g.155505567G>A							p.S770S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2388	-	all_hematologic(180;0.215)	Renal(120;0.0458)	770			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.2310C>T	CCDS3787.1																																																																																				0.527	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		38	81	0	0	0	1	0	38	81				
TENM4	26011	broad.mit.edu	37	11	78383338	78383338	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:78383338G>A	ENST00000278550.7	-	31	5995	c.5533C>T	c.(5533-5535)Cgc>Tgc	p.R1845C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1845					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CGTGTTACGCGATCAAAGTCC	0.517																																						ENST00000278550.7																			0											c.(5533-5535)Cgc>Tgc		teneurin transmembrane protein 4							91.0	89.0	90.0					11																	78383338		1937	4153	6090	SO:0001583	missense	26011							g.chr11:78383338G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5533C>T	11.37:g.78383338G>A	ENSP00000278550:p.Arg1845Cys						p.R1845C	NM_001098816.2	NP_001092286.2					31	5995	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5533C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814614	0.70912	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90385	-2.66;0.77	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94391	0.7614	9	.	.	.	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1845	Q6N022	TEN4_HUMAN	C	1845;309	ENSP00000278550:R1845C;ENSP00000431711:R309C	.	R	-	1	0	ODZ4	78060986	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	CGC		0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			15	64	0	0	0	1	0	15	64				
EPC1	80314	broad.mit.edu	37	10	32561054	32561054	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32561054A>G	ENST00000263062.8	-	13	2243	c.1974T>C	c.(1972-1974)ttT>ttC	p.F658F	RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000375110.2_Silent_p.F585F|EPC1_ENST00000319778.6_Silent_p.F635F	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	658					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CAGAAGCAGCAAACTGTGCAC	0.398																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(1903-1905)ttT>ttC		enhancer of polycomb homolog 1 (Drosophila)							69.0	61.0	64.0					10																	32561054		2203	4300	6503	SO:0001819	synonymous_variant	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32561054A>G	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1974T>C	10.37:g.32561054A>G						EPC1_ENST00000263062.8_Silent_p.F658F|EPC1_ENST00000375110.2_Silent_p.F585F	p.F635F	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			12	2207	-		Prostate(175;0.0199)	658					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Silent	SNP	ENST00000263062.8	37	c.1905T>C	CCDS7172.1																																																																																				0.398	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			15	29	0	0	0	1	0	15	29				
TUBD1	51174	broad.mit.edu	37	17	57958404	57958404	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57958404A>C	ENST00000592426.1	-	3	388	c.388T>G	c.(388-390)Tgt>Ggt	p.C130G	TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.C130G|TUBD1_ENST00000325752.3_Missense_Mutation_p.C130G|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.C130G|TUBD1_ENST00000340993.6_Missense_Mutation_p.C130G|TUBD1_ENST00000539018.1_Intron			Q9UJT1	TBD_HUMAN	tubulin, delta 1	130				C -> R (in Ref. 3; BAG60700). {ECO:0000305}.	cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	AAAGAGTCACATTTCTCCACT	0.403																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(388-390)Tgt>Ggt		tubulin, delta 1							146.0	135.0	139.0					17																	57958404		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57958404A>C	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.388T>G	17.37:g.57958404A>C	ENSP00000468518:p.Cys130Gly					TUBD1_ENST00000394239.3_Missense_Mutation_p.C130G|TUBD1_ENST00000376094.4_Missense_Mutation_p.C130G|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.C130G|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.C130G|TUBD1_ENST00000591611.1_Intron	p.C130G	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		4	665	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		130					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.388T>G	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677645	0.88445	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	6.08	6.08	0.98989	Tubulin/FtsZ, GTPase domain (4);	0.041688	0.85682	D	0.000000	D	0.90307	0.6968	H	0.95328	3.655	0.58432	D	0.999999	D;D;D;P;P	0.63046	0.992;0.963;0.97;0.954;0.936	D;D;P;P;P	0.70227	0.968;0.925;0.8;0.877;0.882	D	0.92949	0.6379	10	0.87932	D	0	-19.3007	16.6512	0.85203	1.0:0.0:0.0:0.0	.	130;130;130;130;130	E9PCA7;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	G	130	ENSP00000320797:C130G;ENSP00000342399:C130G;ENSP00000377785:C130G;ENSP00000365262:C130G	ENSP00000320797:C130G	C	-	1	0	TUBD1	55313186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.651000	0.91078	2.333000	0.79357	0.482000	0.46254	TGT		0.403	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		53	85	0	0	0	1	0	53	85				
NCKAP1	10787	broad.mit.edu	37	2	183845983	183845983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183845983C>A	ENST00000361354.4	-	13	1702	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	NCKAP1_ENST00000360982.2_Nonsense_Mutation_p.E450*	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	444					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)			TGCACGAGTTCATTGAGGACA	0.383																																						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.(1348-1350)Gaa>Taa		NCK-associated protein 1							170.0	150.0	157.0					2																	183845983		2203	4300	6503	SO:0001587	stop_gained	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183845983C>A	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.1330G>T	2.37:g.183845983C>A	ENSP00000355348:p.Glu444*					NCKAP1_ENST00000361354.3_Nonsense_Mutation_p.E444*	p.E450*	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		14	2106	-			444					O60329|Q53QN5|Q53S94|Q53Y35	Nonsense_Mutation	SNP	ENST00000361354.4	37	c.1348G>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	46	12.290448	0.99654	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.6286	18.2679	0.90057	0.0:1.0:0.0:0.0	.	.	.	.	X	444;450	.	ENSP00000354251:E450X	E	-	1	0	NCKAP1	183554228	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.684000	0.84104	2.392000	0.81423	0.555000	0.69702	GAA		0.383	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		23	39	1	0	3.62473e-10	1	4.42315e-10	23	39				
SLC20A2	6575	broad.mit.edu	37	8	42329719	42329719	+	Missense_Mutation	SNP	C	C	T	rs575073679		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42329719C>T	ENST00000342228.3	-	2	559	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	SLC20A2_ENST00000520179.1_Missense_Mutation_p.A64T|SLC20A2_ENST00000520262.1_Missense_Mutation_p.A64T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	64					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCTACTTTGGCGCCTAGTAAC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17899	0.0		0.0	False		,,,				2504	0.0					ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(190-192)Gcc>Acc		solute carrier family 20 (phosphate transporter), member 2							282.0	252.0	262.0					8																	42329719		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42329719C>T		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.190G>A	8.37:g.42329719C>T	ENSP00000340465:p.Ala64Thr					SLC20A2_ENST00000520262.1_Missense_Mutation_p.A64T|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A64T	p.A64T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		2	559	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	64						Missense_Mutation	SNP	ENST00000342228.3	37	c.190G>A	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213836	0.79352	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179;ENST00000518717;ENST00000517366	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91128	0.4935	10	0.44086	T	0.13	-32.2442	17.6287	0.88100	0.0:1.0:0.0:0.0	.	64	Q08357	S20A2_HUMAN	T	64	ENSP00000340465:A64T;ENSP00000429754:A64T;ENSP00000429712:A64T;ENSP00000430166:A64T;ENSP00000427756:A64T	ENSP00000340465:A64T	A	-	1	0	SLC20A2	42448876	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.818000	0.86416	2.763000	0.94921	0.591000	0.81541	GCC		0.512	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			90	180	0	0	0	1	0	90	180				
NME8	51314	broad.mit.edu	37	7	37890277	37890277	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:37890277A>G	ENST00000199447.4	+	5	510	c.138A>G	c.(136-138)caA>caG	p.Q46Q	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.Q46Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	46	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)										GAGCAATGCAACCTTTATTCA	0.343																																						ENST00000199447.4																			0											c.(136-138)caA>caG		NME/NM23 family member 8							110.0	121.0	117.0					7																	37890277		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:37890277A>G	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.138A>G	7.37:g.37890277A>G						EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.Q46Q	p.Q46Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			5	510	+			46			Thioredoxin.		Q9NZH1	Silent	SNP	ENST00000199447.4	37	c.138A>G	CCDS5452.1																																																																																				0.343	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		19	35	0	0	0	1	0	19	35				
ARID1A	8289	broad.mit.edu	37	1	27099430	27099430	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27099430C>T	ENST00000324856.7	+	14	4038	c.3667C>T	c.(3667-3669)Cgc>Tgc	p.R1223C	ARID1A_ENST00000374152.2_Missense_Mutation_p.R840C|ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1223C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1223					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.M1220fs*9(1)|p.M1220fs*2(1)|p.R1223C(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGATGGGGCGCATGTCCTA	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Deletion - Frameshift(2)|Substitution - Missense(1)	p.M1220fs*9(1)|p.M1220fs*2(1)|p.R1223C(1)	ovary(2)|large_intestine(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3667-3669)Cgc>Tgc		AT rich interactive domain 1A (SWI-like)							99.0	103.0	102.0					1																	27099430		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099430C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3667C>T	1.37:g.27099430C>T	ENSP00000320485:p.Arg1223Cys					ARID1A_ENST00000457599.2_Missense_Mutation_p.R1223C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R840C	p.R1223C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	14	4038	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1223					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3667C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.76|15.76	2.927453|2.927453	0.52759|0.52759	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.03553	.|4.04;3.89;3.89	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16128|0.16128	0.0388|0.0388	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.993;0.997;0.993	T|T	0.00007|0.00007	-1.2495|-1.2495	5|10	.|0.87932	.|D	.|0	-8.6821|-8.6821	14.1221|14.1221	0.65195|0.65195	0.1499:0.8501:0.0:0.0|0.1499:0.8501:0.0:0.0	.|.	.|840;1223;1223;876	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	V|C	119|1223;1223;840	.|ENSP00000320485:R1223C;ENSP00000387636:R1223C;ENSP00000363267:R840C	.|ENSP00000320485:R1223C	A|R	+|+	2|1	0|0	ARID1A|ARID1A	26972017|26972017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.464000|5.464000	0.66719|0.66719	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		22	29	0	0	0	1	0	22	29				
CLCA4	22802	broad.mit.edu	37	1	87036850	87036850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:87036850G>T	ENST00000370563.3	+	8	1315	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	CLCA4_ENST00000263723.5_Nonsense_Mutation_p.E138*|RP4-651E10.4_ENST00000456587.1_RNA|CLCA4_ENST00000496322.1_3'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	425	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTGTATTGATGAAGTGAAACA	0.433																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1273-1275)Gaa>Taa		chloride channel accessory 4							268.0	255.0	259.0					1																	87036850		1940	4148	6088	SO:0001587	stop_gained	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87036850G>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1273G>T	1.37:g.87036850G>T	ENSP00000359594:p.Glu425*					CLCA4_ENST00000263723.5_Nonsense_Mutation_p.E138*|CLCA4_ENST00000496322.1_3'UTR	p.E425*	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	8	1315	+		Lung NSC(277;0.238)	425			VWFA.		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Nonsense_Mutation	SNP	ENST00000370563.3	37	c.1273G>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	38	7.029304	0.98013	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	.	.	.	6.17	1.94	0.25998	.	0.527792	0.19919	N	0.103123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-7.9643	7.192	0.25831	0.2204:0.12:0.6596:0.0	.	.	.	.	X	425;138	.	ENSP00000263723:E138X	E	+	1	0	CLCA4	86809438	0.000000	0.05858	0.002000	0.10522	0.160000	0.22226	0.157000	0.16402	0.416000	0.25844	0.655000	0.94253	GAA		0.433	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		38	83	1	0	3.33393e-15	1	4.38315e-15	38	83				
NLRP8	126205	broad.mit.edu	37	19	56485190	56485190	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56485190T>C	ENST00000291971.3	+	7	2776		c.e7+2		NLRP8_ENST00000590542.1_Splice_Site	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8						neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGGCTGGTGTAAGTCCCAGA	0.458																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.e7+2		NLR family, pyrin domain containing 8							93.0	85.0	88.0					19																	56485190		2203	4300	6503	SO:0001630	splice_region_variant	126205					cytoplasm	ATP binding	g.chr19:56485190T>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2705+2T>C	19.37:g.56485190T>C						NLRP8_ENST00000590542.1_Splice_Site		NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	7	2776	+		Colorectal(82;0.000147)|Ovarian(87;0.17)						Q7RTR4	Splice_Site	SNP	ENST00000291971.3	37		CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	9.823	1.186281	0.21870	.	.	ENSG00000179709	ENST00000291971	.	.	.	2.04	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0859	0.19966	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP8	61177002	1.000000	0.71417	0.996000	0.52242	0.418000	0.31294	3.334000	0.52097	1.193000	0.43086	0.421000	0.28195	.		0.458	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	Intron	5	86	0	0	0	1	0	5	86				
RAG1	5896	broad.mit.edu	37	11	36597386	36597386	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:36597386G>T	ENST00000299440.5	+	2	2644	c.2532G>T	c.(2530-2532)atG>atT	p.M844I		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	844					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGAAGATGAACCTCAAAC	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2530-2532)atG>atT		recombination activating gene 1							82.0	78.0	79.0					11																	36597386		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597386G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2532G>T	11.37:g.36597386G>T	ENSP00000299440:p.Met844Ile						p.M844I	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2644	+	all_lung(20;0.226)	all_hematologic(20;0.107)	844					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2532G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877000	0.72180	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.86694	-2.16;-2.16	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.92564	0.7638	M	0.63208	1.945	0.80722	D	1	P	0.46912	0.886	P	0.61003	0.882	D	0.91861	0.5499	10	0.72032	D;D	0.01;0.01	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	844	P15918	RAG1_HUMAN	I	844	ENSP00000434610:M844I;ENSP00000299440:M844I	ENSP00000299440:M844I;ENSP00000299440:M844I	M	+	3	0	RAG1	36553962	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	ATG		0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		17	57	1	0	1.5739e-10	1	1.93697e-10	17	57				
ITGA4	3676	broad.mit.edu	37	2	182339943	182339943	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182339943A>G	ENST00000397033.2	+	4	914	c.484A>G	c.(484-486)Act>Gct	p.T162A	ITGA4_ENST00000339307.4_Missense_Mutation_p.T162A|ITGA4_ENST00000478440.1_Intron	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	162					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TAAGCTCCCCACTGGTGGTTG	0.373																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(484-486)Act>Gct		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						100.0	98.0	99.0					2																	182339943		1827	4085	5912	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182339943A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.484A>G	2.37:g.182339943A>G	ENSP00000380227:p.Thr162Ala					ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.T162A	p.T162A	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		4	914	+			162					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.484A>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	9.363	1.068462	0.20067	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.53857	0.6;0.6;0.6	5.42	5.42	0.78866	.	0.431825	0.25912	N	0.027485	T	0.47210	0.1433	M	0.73598	2.24	0.20638	N	0.99988	B;B	0.21905	0.008;0.062	B;B	0.19148	0.012;0.024	T	0.37478	-0.9704	10	0.15952	T	0.53	.	6.8942	0.24247	0.6964:0.1642:0.0:0.1393	.	162;162	E7EP60;P13612	.;ITA4_HUMAN	A	162	ENSP00000340149:T162A;ENSP00000380227:T162A;ENSP00000233573:T162A	ENSP00000233573:T162A	T	+	1	0	ITGA4	182048188	0.000000	0.05858	0.882000	0.34594	0.980000	0.70556	0.143000	0.16115	2.176000	0.68965	0.528000	0.53228	ACT		0.373	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			29	49	0	0	0	1	0	29	49				
CERS3	204219	broad.mit.edu	37	15	101031086	101031086	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101031086C>T	ENST00000394113.1	-	6	914	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	CERS3_ENST00000538112.2_Missense_Mutation_p.R75Q|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.R75Q			Q8IU89	CERS3_HUMAN	ceramide synthase 3	75					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGTAACCTTTCGAACTGTCTC	0.308																																						ENST00000284382.4																			0											c.(223-225)cGa>cAa		ceramide synthase 3							107.0	106.0	106.0					15																	101031086		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101031086C>T		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.224G>A	15.37:g.101031086C>T	ENSP00000377672:p.Arg75Gln					CERS3_ENST00000538112.2_Missense_Mutation_p.R75Q|CERS3_ENST00000394113.1_Missense_Mutation_p.R75Q|CERS3_ENST00000560944.1_Intron	p.R75Q	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN			5	647	-			75					Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.224G>A	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815168	0.32053	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.29397	1.57;1.57	5.53	0.738	0.18319	Homeobox (1);Homeodomain-like (1);	1.605460	0.03792	N	0.263138	T	0.31104	0.0786	M	0.64170	1.965	0.09310	N	1	B	0.23377	0.084	B	0.17979	0.02	T	0.30090	-0.9990	10	0.62326	D	0.03	-4.0E-4	4.2125	0.10519	0.0:0.4108:0.1724:0.4168	.	75	Q8IU89	CERS3_HUMAN	Q	75;86;75	ENSP00000284382:R75Q;ENSP00000437640:R75Q	ENSP00000284382:R75Q	R	-	2	0	CERS3	98848609	0.007000	0.16637	0.005000	0.12908	0.571000	0.35966	-0.829000	0.04415	0.226000	0.20979	0.563000	0.77884	CGA		0.308	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		16	33	0	0	0	1	0	16	33				
ZBTB11	27107	broad.mit.edu	37	3	101390793	101390793	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101390793C>A	ENST00000312938.4	-	2	1127				ZBTB11_ENST00000461821.1_Missense_Mutation_p.R192I	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGTTACAAATCTTAAAGCTGA	0.378																																						ENST00000461821.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(574-576)aGa>aTa		zinc finger and BTB domain containing 11							71.0	75.0	74.0					3																	101390793		2203	4300	6503	SO:0001627	intron_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101390793C>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.546+28G>T	3.37:g.101390793C>A						ZBTB11_ENST00000312938.4_Intron	p.R192I			O95625	ZBT11_HUMAN			2	778	-			0					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.575G>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806629	0.31961	.	.	ENSG00000066422	ENST00000461821	T	0.37058	1.22	5.36	-3.39	0.04868	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29971	-0.9994	8	0.62326	D	0.03	.	2.3658	0.04318	0.2883:0.2972:0.3126:0.1019	.	192	C9J2L2	.	I	192	ENSP00000417369:R192I	ENSP00000417369:R192I	R	-	2	0	ZBTB11	102873483	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.995000	0.03712	-0.229000	0.09854	-0.790000	0.03334	AGA		0.378	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		4	29	1	0	0.00909568	1	0.00935351	4	29				
ZCCHC11	23318	broad.mit.edu	37	1	52981592	52981592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52981592C>A	ENST00000371544.3	-	3	1115	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	ZCCHC11_ENST00000355809.4_Nonsense_Mutation_p.E285*|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.E285*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	285					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						TGATCTCTTTCTAAGCGTTCT	0.393																																						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.(853-855)Gaa>Taa		zinc finger, CCHC domain containing 11							142.0	130.0	134.0					1																	52981592		2202	4300	6502	SO:0001587	stop_gained	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.chr1:52981592C>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.853G>T	1.37:g.52981592C>A	ENSP00000360599:p.Glu285*					ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.E285*|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Nonsense_Mutation_p.E285*	p.E285*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			3	1115	-			285					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Nonsense_Mutation	SNP	ENST00000371544.3	37	c.853G>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	37	6.144502	0.97320	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723;ENST00000355809	.	.	.	5.26	5.26	0.73747	.	0.341302	0.31323	N	0.007844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.8694	0.92306	0.0:1.0:0.0:0.0	.	.	.	.	X	285;285;285;44;285	.	ENSP00000257177:E285X	E	-	1	0	ZCCHC11	52754180	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.140000	0.50585	2.474000	0.83562	0.655000	0.94253	GAA		0.393	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		25	45	1	0	1.42536e-11	1	1.77514e-11	25	45				
PIP5K1B	8395	broad.mit.edu	37	9	71491678	71491678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:71491678G>T	ENST00000265382.3	+	6	591	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	PIP5K1B_ENST00000541509.1_Nonsense_Mutation_p.E96*	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	96	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATATTTCAGAGAACTTTTTGG	0.383																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(286-288)Gaa>Taa		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							117.0	115.0	115.0					9																	71491678		2203	4300	6503	SO:0001587	stop_gained	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71491678G>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.286G>T	9.37:g.71491678G>T	ENSP00000265382:p.Glu96*					PIP5K1B_ENST00000541509.1_Nonsense_Mutation_p.E96*	p.E96*	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	6	591	+			96			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Nonsense_Mutation	SNP	ENST00000265382.3	37	c.286G>T	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	G	38	6.730783	0.97796	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747;ENST00000377284;ENST00000437200;ENST00000440050	.	.	.	5.68	5.68	0.88126	.	0.046776	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.4334	19.7855	0.96434	0.0:0.0:1.0:0.0	.	.	.	.	X	96;96;96;43;96;96;96	.	ENSP00000265382:E96X	E	+	1	0	PIP5K1B	70681498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.607000	0.98328	2.698000	0.92095	0.585000	0.79938	GAA		0.383	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		11	51	1	0	0.000673444	1	0.000709932	11	51				
FGD4	121512	broad.mit.edu	37	12	32751469	32751469	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32751469A>G	ENST00000427716.2	+	5	1063	c.639A>G	c.(637-639)gaA>gaG	p.E213E	FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_Silent_p.E120E|FGD4_ENST00000525053.1_Silent_p.E325E|FGD4_ENST00000534526.2_Silent_p.E350E|FGD4_ENST00000531134.1_Silent_p.E298E|FGD4_ENST00000381025.3_5'UTR	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	213	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TAGCCAATGAACTTTTGCTTA	0.308																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(637-639)gaA>gaG		FYVE, RhoGEF and PH domain containing 4							93.0	93.0	93.0					12																	32751469		2203	4298	6501	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32751469A>G	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.639A>G	12.37:g.32751469A>G						FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000381025.3_5'UTR|FGD4_ENST00000525053.1_Silent_p.E325E|FGD4_ENST00000531134.1_Silent_p.E298E|FGD4_ENST00000534526.2_Silent_p.E350E|FGD4_ENST00000546442.1_Silent_p.E120E	p.E213E	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			5	1063	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		213			DH.		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.639A>G	CCDS8727.1																																																																																				0.308	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		21	37	0	0	0	1	0	21	37				
WBP2NL	164684	broad.mit.edu	37	22	42415733	42415733	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42415733T>C	ENST00000328823.9	+	3	270	c.239T>C	c.(238-240)aTg>aCg	p.M80T	WBP2NL_ENST00000543212.1_Missense_Mutation_p.M6T	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	80	GRAM.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TTTGATCTGATGACGAACCTC	0.408																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(238-240)aTg>aCg		WBP2 N-terminal like							255.0	234.0	241.0					22																	42415733		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42415733T>C	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.239T>C	22.37:g.42415733T>C	ENSP00000332983:p.Met80Thr					WBP2NL_ENST00000543212.1_Missense_Mutation_p.M6T	p.M80T	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			3	270	+			80			GRAM.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.239T>C	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438023	0.43326	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	D;T	0.88277	-2.36;1.23	4.86	4.86	0.63082	GRAM (1);	0.229512	0.30920	N	0.008603	D	0.92227	0.7535	M	0.86028	2.79	0.43852	D	0.996441	P	0.47841	0.901	P	0.49999	0.628	D	0.93466	0.6815	10	0.87932	D	0	-4.8127	13.5818	0.61907	0.0:0.0:0.0:1.0	.	80	Q6ICG8	WBP2L_HUMAN	T	80;6	ENSP00000332983:M80T;ENSP00000442447:M6T	ENSP00000332983:M80T	M	+	2	0	WBP2NL	40745679	1.000000	0.71417	0.908000	0.35775	0.342000	0.28953	5.970000	0.70431	2.048000	0.60808	0.533000	0.62120	ATG		0.408	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		7	119	0	0	0	1	0	7	119				
PDCD10	11235	broad.mit.edu	37	3	167414852	167414852	+	Silent	SNP	G	G	A	rs201316215	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167414852G>A	ENST00000392750.2	-	5	630	c.213C>T	c.(211-213)agC>agT	p.S71S	PDCD10_ENST00000473645.2_Silent_p.S71S|PDCD10_ENST00000492396.1_Silent_p.S8S|PDCD10_ENST00000470131.1_Silent_p.S71S|PDCD10_ENST00000497056.2_Silent_p.S71S|PDCD10_ENST00000471885.1_Silent_p.S71S|PDCD10_ENST00000461494.1_Silent_p.S71S|PDCD10_ENST00000487947.2_Silent_p.S71S	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	71					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TAACTTCCACGCTTTTTTTCT	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		16554	0.002		0.0	False		,,,				2504	0.0					ENST00000392750.2																			0				central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						c.(211-213)agC>agT		programmed cell death 10							110.0	115.0	113.0					3																	167414852		2203	4300	6503	SO:0001819	synonymous_variant	11235				angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167414852G>A	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.213C>T	3.37:g.167414852G>A						PDCD10_ENST00000461494.1_Silent_p.S71S|PDCD10_ENST00000497056.2_Silent_p.S71S|PDCD10_ENST00000473645.2_Silent_p.S71S|PDCD10_ENST00000492396.1_Silent_p.S8S|PDCD10_ENST00000470131.1_Silent_p.S71S|PDCD10_ENST00000487947.2_Silent_p.S71S|PDCD10_ENST00000471885.1_Silent_p.S71S	p.S71S	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN			5	630	-			71					A8K515|D3DNN5|O14811	Silent	SNP	ENST00000392750.2	37	c.213C>T	CCDS3202.1	.	.	.	.	.	.	.	.	.	.	G	9.754	1.168157	0.21621	.	.	ENSG00000114209	ENST00000479121	.	.	.	5.9	-0.75	0.11080	.	.	.	.	.	T	0.58119	0.2100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54603	-0.8269	4	.	.	.	0.1042	11.4327	0.50050	0.6014:0.0:0.3986:0.0	.	.	.	.	C	52	.	.	R	-	1	0	PDCD10	168897546	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	0.946000	0.29069	-0.075000	0.12798	-0.961000	0.02630	CGT		0.333	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		20	31	0	0	0	1	0	20	31				
MMRN1	22915	broad.mit.edu	37	4	90816240	90816240	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90816240C>T	ENST00000394980.1	+	2	437	c.118C>T	c.(118-120)Cct>Tct	p.P40S	MMRN1_ENST00000394981.1_Missense_Mutation_p.P40S|MMRN1_ENST00000264790.2_Missense_Mutation_p.P40S			Q13201	MMRN1_HUMAN	multimerin 1	40					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAAGACTATGCCTTCTGCTTC	0.448																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(118-120)Cct>Tct		multimerin 1							80.0	88.0	85.0					4																	90816240		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816240C>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.118C>T	4.37:g.90816240C>T	ENSP00000378431:p.Pro40Ser					MMRN1_ENST00000264790.2_Missense_Mutation_p.P40S|MMRN1_ENST00000394981.1_Missense_Mutation_p.P40S	p.P40S			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	437	+		Hepatocellular(203;0.114)	40					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.118C>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	7.804	0.714296	0.15306	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.69435	0.28;0.28;-0.4	4.67	-4.62	0.03370	.	0.778991	0.11199	N	0.589080	T	0.32194	0.0821	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.19910	-1.0291	10	0.17832	T	0.49	.	0.4684	0.00528	0.2632:0.1518:0.2937:0.2913	.	40;40	Q13201-2;Q13201	.;MMRN1_HUMAN	S	40	ENSP00000378431:P40S;ENSP00000264790:P40S;ENSP00000378432:P40S	ENSP00000264790:P40S	P	+	1	0	MMRN1	91035263	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.081000	0.14823	-0.506000	0.06558	-0.363000	0.07495	CCT		0.448	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		23	47	0	0	0	1	0	23	47				
TJP1	7082	broad.mit.edu	37	15	30034962	30034962	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:30034962C>A	ENST00000346128.6	-	9	1508	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I	TJP1_ENST00000356107.6_Missense_Mutation_p.R345I|TJP1_ENST00000400011.2_Missense_Mutation_p.R349I|TJP1_ENST00000545208.2_Missense_Mutation_p.R345I	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	345					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTTAGAAATTCTCTCTTCATC	0.373																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(1033-1035)aGa>aTa		tight junction protein 1							171.0	150.0	156.0					15																	30034962		1861	4114	5975	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30034962C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1034G>T	15.37:g.30034962C>A	ENSP00000281537:p.Arg345Ile					TJP1_ENST00000356107.6_Missense_Mutation_p.R345I|TJP1_ENST00000400011.2_Missense_Mutation_p.R349I|TJP1_ENST00000545208.2_Missense_Mutation_p.R345I	p.R345I	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	9	1508	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	345					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.1034G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442073	0.96187	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.07800	3.16;3.33;3.25;3.16	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.80746	2.51	0.80722	D	1	P;D;D;D	0.89917	0.93;0.959;0.96;1.0	P;P;P;D	0.85130	0.534;0.724;0.682;0.997	T	0.02098	-1.1214	9	.	.	.	.	19.6171	0.95638	0.0:1.0:0.0:0.0	.	338;345;345;349	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	I	345;349;345;345;345	ENSP00000281537:R345I;ENSP00000382890:R349I;ENSP00000441202:R345I;ENSP00000348416:R345I	.	R	-	2	0	TJP1	27822254	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	4.366000	0.59492	2.638000	0.89438	0.462000	0.41574	AGA		0.373	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		14	33	1	0	1.05317e-09	1	1.27574e-09	14	33				
SMS	6611	broad.mit.edu	37	X	22003283	22003283	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:22003283G>A	ENST00000404933.2	+	9	1139	c.887G>A	c.(886-888)aGa>aAa	p.R296K	SMS_ENST00000415881.2_Missense_Mutation_p.R200K|SMS_ENST00000379404.1_Missense_Mutation_p.R243K	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	296	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GAGTTTCTCAGACTGATTCTT	0.348																																						ENST00000404933.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14						c.(886-888)aGa>aAa		spermine synthase	Spermine(DB00127)						88.0	84.0	85.0					X																	22003283		2203	4300	6503	SO:0001583	missense	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:22003283G>A	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.887G>A	X.37:g.22003283G>A	ENSP00000385746:p.Arg296Lys					SMS_ENST00000415881.2_Missense_Mutation_p.R200K|SMS_ENST00000379404.1_Missense_Mutation_p.R243K	p.R296K	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN			9	1139	+			296					A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	c.887G>A	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689239	0.68271	.	.	ENSG00000102172	ENST00000404933;ENST00000379404;ENST00000415881	T;T;T	0.75821	-0.97;-0.97;-0.97	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.78065	0.4225	L	0.31120	0.905	0.58432	D	0.999996	D	0.60160	0.987	D	0.74674	0.984	T	0.72443	-0.4292	10	0.11485	T	0.65	-15.8733	18.1865	0.89795	0.0:0.0:1.0:0.0	.	296	P52788	SPSY_HUMAN	K	296;243;200	ENSP00000385746:R296K;ENSP00000368714:R243K;ENSP00000388906:R200K	ENSP00000368714:R243K	R	+	2	0	SMS	21913204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.259000	0.78381	2.232000	0.73038	0.600000	0.82982	AGA		0.348	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		14	35	0	0	0	1	0	14	35				
BBX	56987	broad.mit.edu	37	3	107492183	107492183	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:107492183T>G	ENST00000325805.8	+	11	1902	c.1615T>G	c.(1615-1617)Tca>Gca	p.S539A	BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.S539A|BBX_ENST00000415149.2_Missense_Mutation_p.S539A|BBX_ENST00000406780.1_Missense_Mutation_p.S539A			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	539	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAGAAAATGTCAAAGGAGAA	0.443																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(1615-1617)Tca>Gca		bobby sox homolog (Drosophila)							84.0	80.0	81.0					3																	107492183		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492183T>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1615T>G	3.37:g.107492183T>G	ENSP00000319974:p.Ser539Ala					BBX_ENST00000406780.1_Missense_Mutation_p.S539A|BBX_ENST00000402543.1_Missense_Mutation_p.S539A|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.S539A	p.S539A	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1942	+			539			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1615T>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268789	0.59540	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	6.07	6.07	0.98685	.	0.398223	0.29205	N	0.012839	T	0.42607	0.1210	L	0.27053	0.805	0.29674	N	0.842203	P;P;P	0.45531	0.728;0.86;0.628	B;B;B	0.42851	0.211;0.4;0.318	T	0.52275	-0.8597	10	0.72032	D	0.01	-8.5897	10.895	0.47017	0.0:0.0696:0.0:0.9304	.	539;539;539	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	A	539	ENSP00000408358:S539A;ENSP00000385317:S539A;ENSP00000319974:S539A;ENSP00000385530:S539A	ENSP00000319974:S539A	S	+	1	0	BBX	108974873	0.980000	0.34600	1.000000	0.80357	0.939000	0.58152	2.362000	0.44169	2.330000	0.79161	0.477000	0.44152	TCA		0.443	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		29	53	0	0	0	1	0	29	53				
RIMS4	140730	broad.mit.edu	37	20	43378957	43378957	+	IGR	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43378957G>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.E157D	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCCACGGAGAACCTGGTGG	0.701																																						ENST00000372861.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(469-471)gaG>gaT		potassium channel, subfamily K, member 15							24.0	23.0	23.0					20																	43378957		2199	4297	6496	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43378957G>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378957G>T							p.E157D	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN			2	602	+		Myeloproliferative disorder(115;0.0122)	157					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.471G>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124937	0.37533	.	.	ENSG00000124249	ENST00000372861	D	0.97404	-4.37	4.29	3.34	0.38264	.	0.132434	0.48767	U	0.000170	D	0.94401	0.8199	M	0.65498	2.005	0.41115	D	0.985778	B	0.06786	0.001	B	0.06405	0.002	D	0.89576	0.3817	10	0.12766	T	0.61	.	9.3758	0.38281	0.1725:0.0:0.8275:0.0	.	157	Q9H427	KCNKF_HUMAN	D	157	ENSP00000361952:E157D	ENSP00000361952:E157D	E	+	3	2	KCNK15	42812371	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	2.082000	0.41605	1.013000	0.39391	0.655000	0.94253	GAG		0.701	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		15	8	1	0	1.49906e-05	1	1.64923e-05	15	8				
FAM162A	26355	broad.mit.edu	37	3	122121665	122121665	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122121665C>T	ENST00000477892.1	+	2	177	c.93C>T	c.(91-93)agC>agT	p.S31S	FAM162A_ENST00000232125.5_Silent_p.S21S|FAM162A_ENST00000469967.1_Silent_p.S31S	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	31					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TTACCAGAAGCTCTGATTTGA	0.358																																						ENST00000477892.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(91-93)agC>agT		family with sequence similarity 162, member A							81.0	76.0	77.0					3																	122121665		1829	4074	5903	SO:0001819	synonymous_variant	26355					integral to membrane		g.chr3:122121665C>T	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.93C>T	3.37:g.122121665C>T						FAM162A_ENST00000232125.5_Silent_p.S21S|FAM162A_ENST00000469967.1_Silent_p.S31S	p.S31S	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN			2	177	+			31					Q9NRN6|Q9UJX8	Silent	SNP	ENST00000477892.1	37	c.93C>T	CCDS43139.1																																																																																				0.358	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		15	35	0	0	0	1	0	15	35				
LPA	4018	broad.mit.edu	37	6	161027561	161027561	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161027561G>A	ENST00000316300.5	-	17	2777	c.2733C>T	c.(2731-2733)gtC>gtT	p.V911V	LPA_ENST00000447678.1_Silent_p.V911V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3419	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGGAGGCGCGACGGCAGTCC	0.542																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2731-2733)gtC>gtT		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						104.0	109.0	107.0					6																	161027561		2064	4256	6320	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027561G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2733C>T	6.37:g.161027561G>A						LPA_ENST00000316300.5_Silent_p.V911V	p.V911V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2853	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3419			Kringle 8.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.2733C>T	CCDS43523.1																																																																																				0.542	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		53	98	0	0	0	1	0	53	98				
ARHGAP35	2909	broad.mit.edu	37	19	47424921	47424921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47424921C>T	ENST00000404338.3	+	1	2989	c.2989C>T	c.(2989-2991)Cga>Tga	p.R997*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CAGCCTGTTTCGAGAAGACAC	0.478																																						ENST00000404338.3																			0											c.(2989-2991)Cga>Tga		Rho GTPase activating protein 35							63.0	62.0	63.0					19																	47424921		1939	4149	6088	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424921C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2989C>T	19.37:g.47424921C>T	ENSP00000385720:p.Arg997*						p.R997*	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2989	+			997					A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.2989C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	40	8.316244	0.98757	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.76	3.57	0.40892	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-7.3842	10.1905	0.43024	0.2739:0.5937:0.1324:0.0	.	.	.	.	X	997	.	ENSP00000324820:R997X	R	+	1	2	ARHGAP35	52116761	0.001000	0.12720	0.999000	0.59377	0.993000	0.82548	-0.110000	0.10824	0.737000	0.32582	0.655000	0.94253	CGA		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		32	39	0	0	0	1	0	32	39				
LAS1L	81887	broad.mit.edu	37	X	64743963	64743963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64743963C>A	ENST00000374811.3	-	10	1313	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	LAS1L_ENST00000374804.5_Nonsense_Mutation_p.E366*|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Nonsense_Mutation_p.E408*	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	425					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ACGATCAGTTCAACGGTCCAT	0.597																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1273-1275)Gaa>Taa		LAS1-like (S. cerevisiae)							93.0	62.0	73.0					X																	64743963		2203	4300	6503	SO:0001587	stop_gained	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64743963C>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1273G>T	X.37:g.64743963C>A	ENSP00000363944:p.Glu425*					LAS1L_ENST00000374807.5_Nonsense_Mutation_p.E408*|LAS1L_ENST00000374804.5_Nonsense_Mutation_p.E366*|LAS1L_ENST00000312391.8_3'UTR	p.E425*	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN			10	1313	-			425					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Nonsense_Mutation	SNP	ENST00000374811.3	37	c.1273G>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	37	6.249529	0.97412	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.76	4.76	0.60689	.	0.110577	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.3933	0.55370	0.0:1.0:0.0:0.0	.	.	.	.	X	408;425;366	.	ENSP00000363937:E366X	E	-	1	0	LAS1L	64660688	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	3.285000	0.51716	1.972000	0.57404	0.287000	0.19450	GAA		0.597	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		10	21	1	0	6.42651e-13	1	8.16824e-13	10	21				
CTBP2	1488	broad.mit.edu	37	10	126682453	126682453	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:126682453G>A	ENST00000337195.5	-	8	1281	c.882C>T	c.(880-882)gcC>gcT	p.A294A	CTBP2_ENST00000531469.1_Silent_p.A294A|CTBP2_ENST00000334808.6_Silent_p.A362A|CTBP2_ENST00000411419.2_Silent_p.A294A|CTBP2_ENST00000494626.2_Silent_p.A294A|CTBP2_ENST00000309035.6_Silent_p.A834A	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	294					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCACGTCGAGGGCTGCCCCTC	0.637																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2500-2502)gcC>gcT		C-terminal binding protein 2							95.0	99.0	97.0					10																	126682453		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682453G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.882C>T	10.37:g.126682453G>A						CTBP2_ENST00000411419.2_Silent_p.A294A|CTBP2_ENST00000531469.1_Silent_p.A294A|CTBP2_ENST00000337195.5_Silent_p.A294A|CTBP2_ENST00000494626.2_Silent_p.A294A|CTBP2_ENST00000334808.6_Silent_p.A362A	p.A834A	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2632	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	294					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2502C>T	CCDS7643.1																																																																																				0.637	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		47	119	0	0	0	1	0	47	119				
LGALSL	29094	broad.mit.edu	37	2	64685453	64685453	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64685453T>G	ENST00000238875.5	+	5	864	c.410T>G	c.(409-411)gTg>gGg	p.V137G	LGALSL_ENST00000409537.2_Missense_Mutation_p.C78G	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	137	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.					intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										CGTTTCCGAGTGTTTGTGGAT	0.388																																						ENST00000238875.5																			0											c.(409-411)gTg>gGg		lectin, galactoside-binding-like							223.0	218.0	220.0					2																	64685453		2203	4300	6503	SO:0001583	missense	29094					intracellular	sugar binding	g.chr2:64685453T>G	AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"""galectin-related protein"""					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.410T>G	2.37:g.64685453T>G	ENSP00000238875:p.Val137Gly					LGALSL_ENST00000409537.2_Missense_Mutation_p.C78G	p.V137G	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN			5	864	+			137			Galectin.		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	ENST00000238875.5	37	c.410T>G	CCDS1877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.76|13.76	2.334795|2.334795	0.41297|0.41297	.|.	.|.	ENSG00000119862|ENSG00000119862	ENST00000409537|ENST00000238875	D|T	0.97016|0.09163	-4.21|3.01	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.|0.045343	.|0.85682	.|D	.|0.000000	T|T	0.43322|0.43322	0.1242|0.1242	M|M	0.91459|0.91459	3.21|3.21	0.39507|0.39507	D|D	0.968298|0.968298	.|D	.|0.71674	.|0.998	.|D	.|0.85130	.|0.997	T|T	0.56709|0.56709	-0.7934|-0.7934	6|10	.|0.87932	.|D	.|0	-13.6494|-13.6494	16.2806|16.2806	0.82678|0.82678	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|137	.|Q3ZCW2	.|LEGL_HUMAN	G|G	78|137	ENSP00000386242:C78G|ENSP00000238875:V137G	.|ENSP00000238875:V137G	C|V	+|+	1|2	0|0	AC008074.1|AC008074.1	64538957|64538957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.698000|7.698000	0.84413|0.84413	2.248000|2.248000	0.74166|0.74166	0.533000|0.533000	0.62120|0.62120	TGT|GTG		0.388	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251731.2	NM_014181		22	159	0	0	0	1	0	22	159				
DUSP11	8446	broad.mit.edu	37	2	74000942	74000942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74000942C>A	ENST00000272444.3	-	4	600	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	DUSP11_ENST00000443070.1_Nonsense_Mutation_p.E187*|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000377706.4_Nonsense_Mutation_p.E140*	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	140	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TCTTTATTTTCTTTCAAAAAC	0.328																																						ENST00000443070.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(559-561)Gaa>Taa		dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)							118.0	129.0	126.0					2																	74000942		2203	4295	6498	SO:0001587	stop_gained	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:74000942C>A	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.559G>T	2.37:g.74000942C>A	ENSP00000272444:p.Glu187*					DUSP11_ENST00000377706.4_Nonsense_Mutation_p.E140*|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000272444.3_Nonsense_Mutation_p.E187*	p.E187*			O75319	DUS11_HUMAN			4	564	-			140			Tyrosine-protein phosphatase.		B2RCT8|Q6AI47|Q9BWE3	Nonsense_Mutation	SNP	ENST00000272444.3	37	c.559G>T	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	C	33	5.238334	0.95240	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706;ENST00000452812	.	.	.	4.95	4.95	0.65309	.	0.249564	0.46145	D	0.000303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-8.9896	16.0911	0.81090	0.0:1.0:0.0:0.0	.	.	.	.	X	187;187;140;138	.	ENSP00000272444:E187X	E	-	1	0	DUSP11	73854450	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	3.118000	0.50414	2.745000	0.94114	0.655000	0.94253	GAA		0.328	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			39	62	1	0	2.6416e-12	1	3.32596e-12	39	62				
NUP54	53371	broad.mit.edu	37	4	77036593	77036593	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77036593C>A	ENST00000264883.3	-	12	1590	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y|NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	484					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.D484Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTTCTAGATCGTCTTTAATG	0.333																																						ENST00000264883.3																			1	Substitution - Missense(1)	p.D484Y(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(1450-1452)Gat>Tat		nucleoporin 54kDa							151.0	139.0	143.0					4																	77036593		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77036593C>A	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1450G>T	4.37:g.77036593C>A	ENSP00000264883:p.Asp484Tyr					NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y|NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y	p.D484Y	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN			12	1590	-			484					B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.1450G>T	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207673	0.79240	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	6.04	6.04	0.98038	.	0.043908	0.85682	D	0.000000	T	0.76593	0.4009	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74348	0.95;0.983;0.945	T	0.77797	-0.2453	9	0.87932	D	0	-17.1458	13.7331	0.62802	0.0:0.9302:0.0:0.0698	.	436;268;484	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	Y	484;268;436;304	.	ENSP00000264883:D484Y	D	-	1	0	NUP54	77255617	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.729000	0.68538	2.873000	0.98535	0.561000	0.74099	GAT		0.333	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			4	27	1	0	0.150653	1	0.151842	4	27				
OPA1	4976	broad.mit.edu	37	3	193332780	193332780	+	Missense_Mutation	SNP	C	C	T	rs371943668		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193332780C>T	ENST00000392438.3	+	2	535	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	OPA1_ENST00000361150.2_Missense_Mutation_p.R101C|OPA1_ENST00000361510.2_Missense_Mutation_p.R101C|OPA1_ENST00000361715.2_Missense_Mutation_p.R101C|OPA1_ENST00000361908.3_Missense_Mutation_p.R101C|OPA1_ENST00000361828.2_Missense_Mutation_p.R101C|OPA1_ENST00000487986.1_3'UTR	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	101					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CTTAAAACTTCGCTATCTCAT	0.413																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(301-303)Cgc>Tgc		optic atrophy 1 (autosomal dominant)		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55.0	56.0	55.0		301,301,301,301,301,301,301,301	5.1	1.0	3		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense	OPA1	NM_015560.2,NM_130831.2,NM_130832.2,NM_130833.2,NM_130834.2,NM_130835.2,NM_130836.2,NM_130837.2	180,180,180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	101/961,101/925,101/943,101/962,101/979,101/980,101/998,101/1016	193332780	1,13005	2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193332780C>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.301C>T	3.37:g.193332780C>T	ENSP00000376233:p.Arg101Cys					OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Missense_Mutation_p.R101C|OPA1_ENST00000392438.3_Missense_Mutation_p.R101C|OPA1_ENST00000361150.2_Missense_Mutation_p.R101C|OPA1_ENST00000361908.3_Missense_Mutation_p.R101C|OPA1_ENST00000361715.2_Missense_Mutation_p.R101C	p.R101C	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	2	535	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		101					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.301C>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543782	0.65198	0.0	1.16E-4	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000392436	D;D;D;D;D;D;D;D	0.99194	-5.11;-4.83;-5.54;-5.07;-4.69;-5.27;-3.5;-2.76	5.97	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.994;1.0;1.0;0.997;1.0;0.993;1.0	D	0.99533	1.0961	10	0.87932	D	0	-11.2223	15.6933	0.77473	0.1378:0.8621:0.0:0.0	.	101;101;101;101;101;101;101;101	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	C	101	ENSP00000354681:R101C;ENSP00000376233:R101C;ENSP00000355324:R101C;ENSP00000355311:R101C;ENSP00000354429:R101C;ENSP00000354781:R101C;ENSP00000376232:R101C;ENSP00000376231:R101C	ENSP00000354781:R101C	R	+	1	0	OPA1	194815474	1.000000	0.71417	0.994000	0.49952	0.726000	0.41606	3.177000	0.50871	1.515000	0.48885	-0.182000	0.12963	CGC		0.413	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		18	34	0	0	0	1	0	18	34				
KIF20B	9585	broad.mit.edu	37	10	91470748	91470748	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91470748G>A	ENST00000371728.3	+	6	586	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	KIF20B_ENST00000416354.1_Missense_Mutation_p.R174Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.R174Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R174Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	174	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATTCTGCCTCGAACTTTGAAT	0.328																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(520-522)cGa>cAa		kinesin family member 20B							59.0	60.0	59.0					10																	91470748		2202	4298	6500	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91470748G>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.521G>A	10.37:g.91470748G>A	ENSP00000360793:p.Arg174Gln					KIF20B_ENST00000394289.2_Missense_Mutation_p.R174Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.R174Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R174Q	p.R174Q			Q96Q89	KI20B_HUMAN			6	593	+			174			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.521G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.578743	0.96565	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;1.96	5.43	5.43	0.79202	Kinesin, motor domain (4);	0.000000	0.41001	D	0.000975	D	0.86264	0.5891	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.87578	0.998;0.871	D	0.87391	0.2363	10	0.87932	D	0	-10.3216	19.2227	0.93805	0.0:0.0:1.0:0.0	.	174;174	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	174	ENSP00000260753:R174Q;ENSP00000411545:R174Q;ENSP00000377830:R174Q;ENSP00000360793:R174Q;ENSP00000390946:R174Q	ENSP00000260753:R174Q	R	+	2	0	KIF20B	91460728	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.054000	0.93866	2.532000	0.85374	0.655000	0.94253	CGA		0.328	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		6	21	0	0	0	1	0	6	21				
PRMT3	10196	broad.mit.edu	37	11	20486022	20486022	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20486022C>G	ENST00000331079.6	+	13	1494	c.1277C>G	c.(1276-1278)aCg>aGg	p.T426R	PRMT3_ENST00000437750.2_Missense_Mutation_p.T364R	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	426	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GATTGCCATACGACGTCTATC	0.318																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(1276-1278)aCg>aGg		protein arginine methyltransferase 3							104.0	103.0	103.0					11																	20486022		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20486022C>G	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1277C>G	11.37:g.20486022C>G	ENSP00000331879:p.Thr426Arg					PRMT3_ENST00000437750.2_Missense_Mutation_p.T364R	p.T426R	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			13	1494	+			426					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.1277C>G	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	C	3.896	-0.023096	0.07634	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	D;D	0.83591	-1.74;-1.74	5.98	3.05	0.35203	.	0.425315	0.29417	N	0.012205	T	0.81754	0.4889	M	0.83384	2.64	0.35217	D	0.775647	B;B	0.16166	0.016;0.001	B;B	0.21546	0.035;0.003	T	0.79347	-0.1841	10	0.66056	D	0.02	-3.5894	6.2229	0.20691	0.2684:0.5903:0.0:0.1413	.	364;426	O60678-2;O60678	.;ANM3_HUMAN	R	426;426;364	ENSP00000331879:T426R;ENSP00000397766:T364R	ENSP00000331879:T426R	T	+	2	0	PRMT3	20442598	0.992000	0.36948	0.364000	0.25888	0.113000	0.19764	1.365000	0.34182	0.390000	0.25115	-0.293000	0.09583	ACG		0.318	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		11	28	0	0	0	1	0	11	28				
MACROD2	140733	broad.mit.edu	37	20	13982972	13982972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13982972G>T	ENST00000310348.4	+	2	85	c.85G>T	c.(85-87)Gaa>Taa	p.E29*	MACROD2_ENST00000217246.4_Nonsense_Mutation_p.E29*			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	29					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAGACGCAAAGAATACCTAAG	0.358																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(85-87)Gaa>Taa		MACRO domain containing 2							111.0	109.0	110.0					20																	13982972		2203	4300	6503	SO:0001587	stop_gained	140733							g.chr20:13982972G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.85G>T	20.37:g.13982972G>T	ENSP00000309809:p.Glu29*					MACROD2_ENST00000310348.4_Nonsense_Mutation_p.E29*	p.E29*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			2	480	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	29					A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Nonsense_Mutation	SNP	ENST00000310348.4	37	c.85G>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	41	8.737615	0.98935	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	.	.	.	6.02	6.02	0.97574	.	0.201424	0.41396	D	0.000886	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-7.9824	19.1153	0.93336	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000217246:E29X	E	+	1	0	MACROD2	13930972	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.377000	0.73145	2.857000	0.98124	0.650000	0.86243	GAA		0.358	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		10	48	1	0	0.000673444	1	0.000709932	10	48				
VAC14	55697	broad.mit.edu	37	16	70765467	70765467	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:70765467A>G	ENST00000261776.5	-	14	1852	c.1592T>C	c.(1591-1593)aTg>aCg	p.M531T		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	531					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				AAGGTTGATCATGAACTTATA	0.468																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1591-1593)aTg>aCg		Vac14 homolog (S. cerevisiae)							125.0	126.0	125.0					16																	70765467		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70765467A>G	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1592T>C	16.37:g.70765467A>G	ENSP00000261776:p.Met531Thr						p.M531T	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			14	1852	-		Ovarian(137;0.0699)	531					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.1592T>C	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217174	0.79352	.	.	ENSG00000103043	ENST00000261776	T	0.68331	-0.32	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	M	0.83384	2.64	0.80722	D	1	D;P	0.54207	0.965;0.949	P;P	0.53266	0.722;0.632	T	0.82900	-0.0228	10	0.87932	D	0	-39.0857	15.7766	0.78224	1.0:0.0:0.0:0.0	.	461;531	B4DMP4;Q08AM6	.;VAC14_HUMAN	T	531	ENSP00000261776:M531T	ENSP00000261776:M531T	M	-	2	0	VAC14	69322968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.754000	0.91642	2.198000	0.70561	0.533000	0.62120	ATG		0.468	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		41	69	0	0	0	1	0	41	69				
HEPHL1	341208	broad.mit.edu	37	11	93796740	93796740	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93796740A>G	ENST00000315765.9	+	3	490	c.482A>G	c.(481-483)aAc>aGc	p.N161S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	161	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCTGGGAAAAACTACACCTAC	0.458																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(481-483)aAc>aGc		hephaestin-like 1							49.0	51.0	50.0					11																	93796740		1925	4130	6055	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93796740A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.482A>G	11.37:g.93796740A>G	ENSP00000313699:p.Asn161Ser						p.N161S	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			3	490	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	161			Plastocyanin-like 1.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.482A>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	3.898	-0.022522	0.07634	.	.	ENSG00000181333	ENST00000315765	D	0.98531	-4.98	5.42	4.28	0.50868	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.132795	0.64402	D	0.000002	D	0.89602	0.6762	N	0.00642	-1.3	0.34467	D	0.702417	B	0.20887	0.049	B	0.24701	0.055	D	0.86096	0.1553	10	0.02654	T	1	.	12.4943	0.55918	0.8601:0.1399:0.0:0.0	.	161	Q6MZM0	HPHL1_HUMAN	S	161	ENSP00000313699:N161S	ENSP00000313699:N161S	N	+	2	0	HEPHL1	93436388	1.000000	0.71417	0.992000	0.48379	0.965000	0.64279	5.628000	0.67791	0.878000	0.35920	0.533000	0.62120	AAC		0.458	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		17	34	0	0	0	1	0	17	34				
ZNF765	91661	broad.mit.edu	37	19	53911394	53911394	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53911394T>G	ENST00000396408.3	+	4	703	c.586T>G	c.(586-588)Ttc>Gtc	p.F196V	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	196					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)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGGGAATAATTTCCTGAATTC	0.373																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(586-588)Ttc>Gtc		zinc finger protein 765							66.0	67.0	66.0					19																	53911394		2163	4275	6438	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911394T>G	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.586T>G	19.37:g.53911394T>G	ENSP00000379689:p.Phe196Val					ZNF765_ENST00000594030.1_Intron	p.F196V	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	703	+			196					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.586T>G	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	T	7.053	0.564765	0.13498	.	.	ENSG00000196417	ENST00000396408	T	0.41758	0.99	0.588	0.588	0.17445	.	.	.	.	.	T	0.47985	0.1475	M	0.92077	3.27	0.09310	N	1	B	0.27951	0.195	B	0.23419	0.046	T	0.48246	-0.9052	7	.	.	.	.	.	.	.	.	196	Q7L2R6	ZN765_HUMAN	V	196	ENSP00000379689:F196V	.	F	+	1	0	ZNF765	58603206	0.000000	0.05858	0.005000	0.12908	0.090000	0.18270	0.172000	0.16704	0.464000	0.27142	0.147000	0.16070	TTC		0.373	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		9	71	0	0	0	1	0	9	71				
PPFIA1	8500	broad.mit.edu	37	11	70170513	70170513	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:70170513C>T	ENST00000253925.7	+	3	485	c.270C>T	c.(268-270)ttC>ttT	p.F90F	CTA-797E19.1_ENST00000531426.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.F90F|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	90					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCTAGGAGTTCGCAGCACTTA	0.403																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(268-270)ttC>ttT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							90.0	92.0	91.0					11																	70170513		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70170513C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.270C>T	11.37:g.70170513C>T						AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.F90F	p.F90F	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		3	485	+			90					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.270C>T	CCDS31627.1																																																																																				0.403	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		48	70	0	0	0	1	0	48	70				
GPR34	2857	broad.mit.edu	37	X	41555868	41555868	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41555868T>G	ENST00000378142.4	+	3	1266	c.982T>G	c.(982-984)Ttc>Gtc	p.F328V	CASK_ENST00000378166.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.F328V|CASK_ENST00000378154.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	328					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTCATGTATTTCCTGATGTC	0.363																																						ENST00000378142.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(982-984)Ttc>Gtc		G protein-coupled receptor 34							118.0	98.0	105.0					X																	41555868		2202	4299	6501	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555868T>G	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.982T>G	X.37:g.41555868T>G	ENSP00000367384:p.Phe328Val					CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.F328V	p.F328V	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN			3	1266	+			328					O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.982T>G	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.815257	0.70912	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.23552	1.9;1.9	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.29640	-1.0005	10	0.66056	D	0.02	-14.506	14.9871	0.71356	0.0:0.0:0.0:1.0	.	328	Q9UPC5	GPR34_HUMAN	V	328;328;281	ENSP00000367384:F328V;ENSP00000367378:F328V	ENSP00000367378:F328V	F	+	1	0	GPR34	41440812	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.694000	0.84235	1.922000	0.55676	0.481000	0.45027	TTC		0.363	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		5	39	0	0	0	1	0	5	39				
RPA1	6117	broad.mit.edu	37	17	1782331	1782331	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1782331C>A	ENST00000254719.5	+	9	845	c.735C>A	c.(733-735)ttC>ttA	p.F245L	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	245					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGGACAAGTTCTTTCCTCTTA	0.557								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(733-735)ttC>ttA	Nucleotide excision repair (NER)	replication protein A1, 70kDa							98.0	89.0	92.0					17																	1782331		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782331C>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.735C>A	17.37:g.1782331C>A	ENSP00000254719:p.Phe245Leu					RPA1_ENST00000573924.1_3'UTR	p.F245L	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			9	845	+			245					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.735C>A	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882572	0.91740	.	.	ENSG00000132383	ENST00000254719	T	0.20200	2.09	6.17	3.16	0.36331	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.49571	1.57	0.80722	D	1	P	0.51057	0.941	P	0.52424	0.698	T	0.01666	-1.1300	10	0.29301	T	0.29	-16.8769	11.3186	0.49407	0.0:0.8057:0.0:0.1943	.	245	P27694	RFA1_HUMAN	L	245	ENSP00000254719:F245L	ENSP00000254719:F245L	F	+	3	2	RPA1	1729081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.400000	0.44504	0.949000	0.37715	0.655000	0.94253	TTC		0.557	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		16	31	1	0	1.01871e-10	1	1.25646e-10	16	31				
EPB41L2	2037	broad.mit.edu	37	6	131201347	131201347	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:131201347C>A	ENST00000337057.3	-	13	2015		c.e13-1		EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530757.1_Splice_Site|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000531410.1_Splice_Site|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525193.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AGGAATTTTTCTGTGAAATTA	0.358																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.e13-1		erythrocyte membrane protein band 4.1-like 2							60.0	60.0	60.0					6																	131201347		2203	4300	6503	SO:0001630	splice_region_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131201347C>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1834-1G>T	6.37:g.131201347C>A						EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000530757.1_Splice_Site|EPB41L2_ENST00000531410.1_Splice_Site|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525271.1_Intron		NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	13	2015	-	Breast(56;0.0639)							B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Splice_Site	SNP	ENST00000337057.3	37		CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835561	0.71373	.	.	ENSG00000079819	ENST00000531410;ENST00000337057;ENST00000530757;ENST00000368128;ENST00000527423;ENST00000456097	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2033	0.98269	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L2	131243040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.695000	0.47043	2.779000	0.95612	0.655000	0.94253	.		0.358	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3		Intron	8	10	1	0	0.27861	1	0.279356	8	10				
GLYAT	10249	broad.mit.edu	37	11	58478199	58478199	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58478199G>A	ENST00000344743.3	-	5	493	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	GLYAT_ENST00000529732.1_Missense_Mutation_p.L118F|GLYAT_ENST00000278400.3_Missense_Mutation_p.L118F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	118					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	ATGGCTGCAAGATTTTGTATA	0.408																																						ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(352-354)Ctt>Ttt		glycine-N-acyltransferase	Glycine(DB00145)						161.0	143.0	149.0					11																	58478199		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58478199G>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.352C>T	11.37:g.58478199G>A	ENSP00000340200:p.Leu118Phe					GLYAT_ENST00000529732.1_Missense_Mutation_p.L118F|GLYAT_ENST00000278400.3_Missense_Mutation_p.L118F	p.L118F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			5	493	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	118					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.352C>T	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466352	0.26335	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.18174	2.23;2.23;2.23	5.88	2.94	0.34122	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.312987	0.28589	N	0.014813	T	0.18635	0.0447	M	0.67397	2.05	0.28782	N	0.899806	B;P	0.40681	0.241;0.727	B;B	0.42112	0.178;0.376	T	0.07195	-1.0785	10	0.40728	T	0.16	-17.2105	5.2848	0.15696	0.1906:0.2143:0.5951:0.0	.	118;118	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	F	118	ENSP00000340200:L118F;ENSP00000431688:L118F;ENSP00000278400:L118F	ENSP00000278400:L118F	L	-	1	0	GLYAT	58234775	0.843000	0.29541	0.962000	0.40283	0.089000	0.18198	0.492000	0.22435	0.832000	0.34804	0.655000	0.94253	CTT		0.408	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			35	63	0	0	0	1	0	35	63				
ZNF676	163223	broad.mit.edu	37	19	22364033	22364033	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22364033A>C	ENST00000397121.2	-	3	803	c.486T>G	c.(484-486)atT>atG	p.I162M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTCTAGTATAAATTCTTTCAT	0.338																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(484-486)atT>atG		zinc finger protein 676							68.0	67.0	67.0					19																	22364033		1978	4194	6172	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364033A>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.486T>G	19.37:g.22364033A>C	ENSP00000380310:p.Ile162Met						p.I162M	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	803	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	162					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.486T>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	9.361	1.068114	0.20067	.	.	ENSG00000196109	ENST00000397121	T	0.17528	2.27	1.03	-0.735	0.11137	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36963	0.0986	M	0.81112	2.525	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.14035	-1.0487	9	0.72032	D	0.01	.	5.8601	0.18743	0.3795:0.0:0.6205:0.0	.	162	Q8N7Q3	ZN676_HUMAN	M	162	ENSP00000380310:I162M	ENSP00000380310:I162M	I	-	3	3	ZNF676	22155873	0.013000	0.17824	0.001000	0.08648	0.006000	0.05464	-0.566000	0.05922	-0.405000	0.07599	0.164000	0.16699	ATT		0.338	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		20	42	0	0	0	1	0	20	42				
GJB1	2705	broad.mit.edu	37	X	70444064	70444064	+	Silent	SNP	C	C	T	rs373334326		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70444064C>T	ENST00000374022.3	+	2	602	c.507C>T	c.(505-507)gaC>gaT	p.D169D	GJB1_ENST00000374029.1_Silent_p.D169D|GJB1_ENST00000361726.6_Silent_p.D169D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	169					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TCAAGTGCGACGTCTACCCCT	0.562													C|||	11	0.00291391	0.0	0.0	3775	,	,		11449	0.0		0.0	False		,,,				2504	0.0112					ENST00000374022.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(505-507)gaC>gaT		gap junction protein, beta 1, 32kDa		C	,	0,3835		0,0,0,1632,571	161.0	118.0	132.0		507,507	-5.5	0.8	X		132	3,6725		0,2,1,2426,1871	no	coding-synonymous,coding-synonymous	GJB1	NM_000166.5,NM_001097642.2	,	0,2,1,4058,2442	TT,TC,T,CC,C		0.0446,0.0,0.0284	,	169/284,169/284	70444064	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	2705				cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	g.chrX:70444064C>T	X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"""Ion channels / Gap junction proteins (connexins)"""	4283	protein-coding gene	gene with protein product	"""Charcot-Marie-Tooth neuropathy, X-linked"", ""connexin 32"""	304040	"""gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32)"""	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.507C>T	X.37:g.70444064C>T						GJB1_ENST00000361726.6_Silent_p.D169D|GJB1_ENST00000374029.1_Silent_p.D169D	p.D169D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN			2	602	+	Renal(35;0.156)		169					B2R8R2|D3DVV2|Q5U0S4	Silent	SNP	ENST00000374022.3	37	c.507C>T	CCDS14408.1																																																																																				0.562	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1	NM_000166		5	24	0	0	0	1	0	5	24				
BCORL1	63035	broad.mit.edu	37	X	129147295	129147295	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129147295G>T	ENST00000218147.7	+	4	744	c.547G>T	c.(547-549)Gtc>Ttc	p.V183F	BCORL1_ENST00000540052.1_Missense_Mutation_p.V183F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V183F|BCORL1_ENST00000303743.5_Missense_Mutation_p.V183F			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	183					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGGAACTGGAGTCCCTGTGGA	0.577																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(547-549)Gtc>Ttc		BCL6 corepressor-like 1							102.0	98.0	99.0					X																	129147295		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147295G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.547G>T	X.37:g.129147295G>T	ENSP00000218147:p.Val183Phe					BCORL1_ENST00000303743.5_Missense_Mutation_p.V183F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V183F|BCORL1_ENST00000218147.7_Missense_Mutation_p.V183F	p.V183F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	591	+			183					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.547G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022908	0.35701	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.54866	0.56;0.93;0.55;0.56	4.85	3.97	0.46021	.	0.000000	0.32147	N	0.006509	T	0.44767	0.1309	N	0.14661	0.345	0.09310	N	1	D;D	0.64830	0.994;0.978	P;P	0.56865	0.808;0.496	T	0.21586	-1.0241	9	.	.	.	-13.0055	7.9317	0.29905	0.0856:0.0:0.7584:0.156	.	183;183	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	F	183	ENSP00000218147:V183F;ENSP00000307541:V183F;ENSP00000352253:V183F;ENSP00000437775:V183F	.	V	+	1	0	BCORL1	128974976	0.998000	0.40836	1.000000	0.80357	0.946000	0.59487	2.868000	0.48436	1.982000	0.57802	0.529000	0.55759	GTC		0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		14	140	1	0	4.3838e-07	1	4.998e-07	14	140				
OR7C1	26664	broad.mit.edu	37	19	14910876	14910876	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14910876A>G	ENST00000248073.2	-	1	147	c.73T>C	c.(73-75)Ttc>Ctc	p.F25L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	25					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGAGAATGAACTGAATCTCT	0.483																																						ENST00000248073.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						c.(73-75)Ttc>Ctc		olfactory receptor, family 7, subfamily C, member 1							94.0	87.0	89.0					19																	14910876		2203	4300	6503	SO:0001583	missense	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910876A>G	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.73T>C	19.37:g.14910876A>G	ENSP00000248073:p.Phe25Leu					OR7A5_ENST00000601611.1_Intron	p.F25L	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN			1	147	-			25					Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	c.73T>C	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	a	11.00	1.511011	0.27036	.	.	ENSG00000127530	ENST00000248073	T	0.00402	7.56	3.77	-7.54	0.01332	.	1.696240	0.04129	N	0.317634	T	0.00109	0.0003	N	0.00223	-1.815	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51857	-0.8652	10	0.49607	T	0.09	.	10.3635	0.44010	0.1489:0.0:0.7048:0.1463	.	25	O76099	OR7C1_HUMAN	L	25	ENSP00000248073:F25L	ENSP00000248073:F25L	F	-	1	0	OR7C1	14771876	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.341000	0.00250	-1.870000	0.01139	-0.419000	0.06015	TTC		0.483	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			39	81	0	0	0	1	0	39	81				
GLI2	2736	broad.mit.edu	37	2	121745903	121745903	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121745903C>T	ENST00000452319.1	+	14	2473	c.2413C>T	c.(2413-2415)Cgc>Tgc	p.R805C	GLI2_ENST00000314490.11_Missense_Mutation_p.R477C|GLI2_ENST00000361492.4_Missense_Mutation_p.R805C					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTGCAGGAGCGCCGCGACAG	0.736																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2413-2415)Cgc>Tgc		GLI family zinc finger 2							6.0	8.0	8.0					2																	121745903		2133	4209	6342	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121745903C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2413C>T	2.37:g.121745903C>T	ENSP00000390436:p.Arg805Cys					GLI2_ENST00000361492.4_Missense_Mutation_p.R805C|GLI2_ENST00000314490.11_Missense_Mutation_p.R477C	p.R805C			P10070	GLI2_HUMAN			14	2473	+	Renal(3;0.0496)	Prostate(154;0.0623)	805			Ser-rich.			Missense_Mutation	SNP	ENST00000452319.1	37	c.2413C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274803	0.95459	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.92199	-2.99;-2.99;-2.99	4.58	4.58	0.56647	.	0.112746	0.64402	D	0.000007	D	0.96636	0.8902	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.97514	1.0068	10	0.87932	D	0	.	17.587	0.87984	0.0:1.0:0.0:0.0	.	805;460;460;477	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	C	805;805;477	ENSP00000390436:R805C;ENSP00000354586:R805C;ENSP00000312694:R477C	ENSP00000312694:R477C	R	+	1	0	GLI2	121462373	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.447000	0.80620	2.366000	0.80165	0.561000	0.74099	CGC		0.736	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	10	0	0	0	1	0	7	10				
MTG1	92170	broad.mit.edu	37	10	135215056	135215056	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135215056G>A	ENST00000317502.6	+	7	585	c.535G>A	c.(535-537)Gag>Aag	p.E179K	MTG1_ENST00000477902.2_Missense_Mutation_p.E138K|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.E184K	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	179	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGTGGGTGGCGAGCCTGGGAT	0.542																																						ENST00000468317.2																			0											c.(550-552)Gag>Aag									61.0	62.0	62.0					10																	135215056		2203	4300	6503	SO:0001583	missense	0							g.chr10:135215056G>A		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.535G>A	10.37:g.135215056G>A	ENSP00000323047:p.Glu179Lys					MTG1_ENST00000317502.6_Missense_Mutation_p.E179K|MTG1_ENST00000477902.2_Missense_Mutation_p.E138K	p.E184K							8	805	+								Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.550G>A	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	g	10.40	1.339615	0.24339	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000537620	T;T	0.12984	2.63;2.63	5.44	4.54	0.55810	GTP-binding domain, HSR1-related (1);	0.273852	0.33327	U	0.005040	T	0.07458	0.0188	N	0.11651	0.15	0.80722	D	1	B	0.31040	0.305	B	0.29598	0.104	T	0.36456	-0.9747	10	0.17369	T	0.5	-3.0641	12.9277	0.58270	0.0:0.2829:0.7171:0.0	.	179	Q9BT17	MTG1_HUMAN	K	184;179;138	ENSP00000436767:E184K;ENSP00000323047:E179K	ENSP00000323047:E179K	E	+	1	0	AL360181.1;MTG1	135065046	0.991000	0.36638	0.986000	0.45419	0.242000	0.25591	2.145000	0.42207	1.280000	0.44463	0.446000	0.29264	GAG		0.542	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		17	34	0	0	0	1	0	17	34				
MAP2	4133	broad.mit.edu	37	2	210560590	210560590	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210560590T>G	ENST00000360351.4	+	7	4202	c.3696T>G	c.(3694-3696)atT>atG	p.I1232M	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1228M	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1232					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAGCAGAGATTCAGAGTGAGG	0.478																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3694-3696)atT>atG		microtubule-associated protein 2	Estramustine(DB01196)						63.0	67.0	66.0					2																	210560590		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560590T>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3696T>G	2.37:g.210560590T>G	ENSP00000353508:p.Ile1232Met					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1228M|MAP2_ENST00000392194.1_Intron	p.I1232M	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4202	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1232					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3696T>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	T	4.999	0.185457	0.09495	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.20881	2.04;2.04	5.52	-3.66	0.04489	MAP2/Tau projection (1);	1.076650	0.07135	N	0.846248	T	0.08891	0.0220	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.037;0.046	B;B	0.15052	0.007;0.012	T	0.33369	-0.9871	10	0.41790	T	0.15	-0.4118	4.754	0.13075	0.3028:0.2662:0.0:0.431	.	1228;1232	P11137-3;P11137	.;MAP2_HUMAN	M	1232;1228	ENSP00000353508:I1232M;ENSP00000392164:I1228M	ENSP00000353508:I1232M	I	+	3	3	MAP2	210268835	0.031000	0.19500	0.034000	0.17996	0.779000	0.44077	-0.356000	0.07661	-0.502000	0.06596	0.528000	0.53228	ATT		0.478	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		24	36	0	0	0	1	0	24	36				
TUBA3C	7278	broad.mit.edu	37	13	19753677	19753677	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19753677C>T	ENST00000400113.3	-	2	134	c.30G>A	c.(28-30)ggG>ggA	p.G10G	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	10					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G10G(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTCCTGCCTGCCCCACGTGGA	0.463																																						ENST00000400113.3																			1	Substitution - coding silent(1)	p.G10G(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(28-30)ggG>ggA		tubulin, alpha 3c							129.0	111.0	117.0					13																	19753677		2203	4300	6503	SO:0001819	synonymous_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19753677C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.30G>A	13.37:g.19753677C>T							p.G10G	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	134	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	10					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	c.30G>A	CCDS9284.1																																																																																				0.463	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		27	51	0	0	0	1	0	27	51				
ZXDC	79364	broad.mit.edu	37	3	126180490	126180490	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:126180490A>G	ENST00000389709.3	-	6	2068	c.2015T>C	c.(2014-2016)gTt>gCt	p.V672A	ZXDC_ENST00000336332.5_Missense_Mutation_p.V672A	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	672	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CTGCTGCCCAACTGCTCCTGG	0.642																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(2014-2016)gTt>gCt		ZXD family zinc finger C							52.0	56.0	55.0					3																	126180490		2109	4216	6325	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126180490A>G	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2015T>C	3.37:g.126180490A>G	ENSP00000374359:p.Val672Ala					ZXDC_ENST00000336332.5_Missense_Mutation_p.V672A	p.V672A	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	2068	-			672			Required for transcriptional activation.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.2015T>C	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	A	5.488	0.275126	0.10403	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.08984	3.03;3.03	4.72	-2.49	0.06403	.	0.563434	0.17915	N	0.157712	T	0.06280	0.0162	L	0.48642	1.525	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.003	T	0.26538	-1.0100	10	0.40728	T	0.16	-0.9104	4.8158	0.13365	0.4654:0.2845:0.2502:0.0	.	672;672	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	A	672	ENSP00000374359:V672A;ENSP00000337694:V672A	ENSP00000337694:V672A	V	-	2	0	ZXDC	127663180	0.003000	0.15002	0.000000	0.03702	0.025000	0.11179	1.393000	0.34497	-0.634000	0.05538	-0.326000	0.08463	GTT		0.642	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		32	60	0	0	0	1	0	32	60				
PRKRA	8575	broad.mit.edu	37	2	179306381	179306381	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179306381G>T	ENST00000325748.4	-	6	765	c.565C>A	c.(565-567)Ctt>Att	p.L189I	AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000487082.1_Missense_Mutation_p.L164I|PRKRA_ENST00000432031.2_Missense_Mutation_p.L178I|PRKRA_ENST00000438687.3_Missense_Mutation_p.L76I	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	189	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AATTTGGCAAGAAATTTCTCA	0.348																																					Melanoma(200;68 3001 23825 48764)	ENST00000325748.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(565-567)Ctt>Att		protein kinase, interferon-inducible double stranded RNA dependent activator							95.0	104.0	101.0					2																	179306381		2202	4300	6502	SO:0001583	missense	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179306381G>T	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.565C>A	2.37:g.179306381G>T	ENSP00000318176:p.Leu189Ile					PRKRA_ENST00000438687.3_Missense_Mutation_p.L76I|PRKRA_ENST00000432031.2_Missense_Mutation_p.L178I|PRKRA_ENST00000487082.1_Missense_Mutation_p.L164I	p.L189I	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		6	765	-			189			DRBM 2.|Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	37	c.565C>A	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831574	0.71258	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	5.7	5.7	0.88788	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.148239	0.46442	D	0.000292	D	0.89556	0.6749	L	0.59436	1.845	0.36318	D	0.858091	D;D	0.60575	0.988;0.969	P;P	0.59761	0.863;0.828	D	0.91401	0.5143	10	0.49607	T	0.09	.	16.7405	0.85458	0.0:0.0:1.0:0.0	.	189;178	O75569;O75569-2	PRKRA_HUMAN;.	I	189;76;164;178	ENSP00000318176:L189I;ENSP00000398980:L76I;ENSP00000430604:L164I;ENSP00000393883:L178I	ENSP00000318176:L189I	L	-	1	0	PRKRA	179014627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.709000	0.54853	2.688000	0.91661	0.591000	0.81541	CTT		0.348	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		8	70	1	0	0.000157383	1	0.000169016	8	70				
ABCC9	10060	broad.mit.edu	37	12	22063775	22063775	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22063775G>T	ENST00000261201.4	-	7	1148	c.1149C>A	c.(1147-1149)ctC>ctA	p.L383L	ABCC9_ENST00000261200.4_Silent_p.L383L|ABCC9_ENST00000345162.2_Silent_p.L383L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	383	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GAGCTCCACGGAGGTTAATGC	0.408																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1147-1149)ctC>ctA		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						110.0	113.0	112.0					12																	22063775		2203	4299	6502	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22063775G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1149C>A	12.37:g.22063775G>T						ABCC9_ENST00000345162.2_Silent_p.L383L|ABCC9_ENST00000261201.4_Silent_p.L383L	p.L383L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			7	1148	-			383			ABC transmembrane type-1 1.		O60707	Silent	SNP	ENST00000261201.4	37	c.1149C>A	CCDS8694.1																																																																																				0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		22	53	1	0	7.87624e-14	1	1.01695e-13	22	53				
LTN1	26046	broad.mit.edu	37	21	30358482	30358482	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30358482C>A	ENST00000361371.5	-	3	402	c.323G>T	c.(322-324)aGa>aTa	p.R108I	LTN1_ENST00000389194.2_Missense_Mutation_p.R154I|LTN1_ENST00000389195.2_Missense_Mutation_p.R154I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	108				R -> T (in Ref. 7; DB452437). {ECO:0000305}.	protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCAAAAAATTCTTGGCCAATA	0.318																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(322-324)aGa>aTa		listerin E3 ubiquitin protein ligase 1							57.0	59.0	58.0					21																	30358482		2202	4300	6502	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30358482C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.323G>T	21.37:g.30358482C>A	ENSP00000354977:p.Arg108Ile					LTN1_ENST00000389195.2_Missense_Mutation_p.R154I|LTN1_ENST00000389194.2_Missense_Mutation_p.R154I	p.R108I	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			3	473	-			108					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.323G>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.061970	0.76187	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66815	3.61;3.61;-0.23	4.2	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.061993	0.64402	D	0.000005	T	0.80803	0.4693	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.81780	-0.0776	10	0.40728	T	0.16	.	16.7488	0.85480	0.0:1.0:0.0:0.0	.	108	O94822	LTN1_HUMAN	I	154;108;110;154	ENSP00000373846:R154I;ENSP00000354977:R108I;ENSP00000373847:R154I	ENSP00000354977:R108I	R	-	2	0	LTN1	29280353	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.195000	0.58400	2.190000	0.69967	0.467000	0.42956	AGA		0.318	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		10	10	1	0	2.52707e-12	1	3.18246e-12	10	10				
MTMR10	54893	broad.mit.edu	37	15	31251300	31251300	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31251300T>C	ENST00000435680.1	-	8	880	c.783A>G	c.(781-783)ccA>ccG	p.P261P	MTMR10_ENST00000563714.1_Silent_p.P179P|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Silent_p.P13P|RNU6-466P_ENST00000391224.1_RNA	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	261	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CTAAAGAACTTGGCACTACAA	0.393																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(781-783)ccA>ccG		myotubularin related protein 10							56.0	50.0	52.0					15																	31251300		1835	4084	5919	SO:0001819	synonymous_variant	54893						phosphatase activity	g.chr15:31251300T>C	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.783A>G	15.37:g.31251300T>C						MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Silent_p.P179P|MTMR10_ENST00000314404.8_Silent_p.P13P	p.P261P	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	8	880	-		all_lung(180;2.81e-11)	261			Myotubularin phosphatase.		Q6P4Q6	Silent	SNP	ENST00000435680.1	37	c.783A>G	CCDS45204.1																																																																																				0.393	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		4	8	0	0	0	1	0	4	8				
TATDN1	83940	broad.mit.edu	37	8	125499514	125499514	+	IGR	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125499514G>T	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Nonsense_Mutation_p.E542*|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCGCTTACAAGAAATAAATGA	0.373																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(1624-1626)Gaa>Taa		ring finger protein 139							65.0	64.0	64.0					8																	125499514		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125499514G>T	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499514G>T							p.E542*	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1996	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		542					B2R5J0|Q8TD02|Q9BY40	Nonsense_Mutation	SNP	ENST00000276692.6	37	c.1624G>T	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	38	7.252088	0.98164	.	.	ENSG00000170881	ENST00000303545	.	.	.	5.5	5.5	0.81552	.	0.109123	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-12.0735	19.7497	0.96263	0.0:0.0:1.0:0.0	.	.	.	.	X	542	.	ENSP00000304051:E542X	E	+	1	0	RNF139	125568695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.060000	0.71141	2.729000	0.93468	0.561000	0.74099	GAA		0.373	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		14	36	1	0	1.52009e-12	1	1.92208e-12	14	36				
SLC25A18	83733	broad.mit.edu	37	22	18064149	18064149	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:18064149C>T	ENST00000327451.6	+	5	707	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	SLC25A18_ENST00000497401.1_3'UTR|AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.R57W	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	57						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		GAAGACGGCTCGGGCGGAGGG	0.652																																					Colon(118;1560 1625 18964 29606 50093)	ENST00000327451.5																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18						c.(169-171)Cgg>Tgg		solute carrier family 25 (glutamate carrier), member 18	L-Glutamic Acid(DB00142)						95.0	94.0	94.0					22																	18064149		2203	4300	6503	SO:0001583	missense	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18064149C>T	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.169C>T	22.37:g.18064149C>T	ENSP00000329033:p.Arg57Trp					AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.R57W	p.R57W	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	5	707	+			57						Missense_Mutation	SNP	ENST00000327451.6	37	c.169C>T	CCDS13744.1	.	.	.	.	.	.	.	.	.	.	C	30	5.058096	0.93846	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.80738	-1.41;-1.41	5.23	3.07	0.35406	Mitochondrial carrier domain (2);	0.189331	0.44483	D	0.000454	D	0.91449	0.7301	H	0.95187	3.635	0.30510	N	0.76954	D	0.76494	0.999	D	0.72625	0.978	D	0.89281	0.3612	10	0.87932	D	0	-6.1054	11.0067	0.47637	0.1562:0.7187:0.125:0.0	.	57	Q9H1K4	GHC2_HUMAN	W	57	ENSP00000329033:R57W;ENSP00000382710:R57W	ENSP00000329033:R57W	R	+	1	2	SLC25A18	16444149	0.945000	0.32115	0.002000	0.10522	0.630000	0.37929	2.621000	0.46418	0.609000	0.30018	0.563000	0.77884	CGG		0.652	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		45	98	0	0	0	1	0	45	98				
ABCG8	64241	broad.mit.edu	37	2	44073297	44073297	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44073297G>A	ENST00000272286.2	+	3	259	c.169G>A	c.(169-171)Gac>Aac	p.D57N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	57	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCCACAGGTGGACCTGGCCTC	0.547																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(169-171)Gac>Aac		ATP-binding cassette, sub-family G (WHITE), member 8							66.0	66.0	66.0					2																	44073297		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44073297G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.169G>A	2.37:g.44073297G>A	ENSP00000272286:p.Asp57Asn						p.D57N	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			3	259	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	57			ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.169G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	8.036	0.762737	0.15914	.	.	ENSG00000143921	ENST00000272286	D	0.88277	-2.36	5.7	1.7	0.24286	ABC transporter-like (1);	0.191376	0.56097	N	0.000040	T	0.74913	0.3779	N	0.16656	0.425	0.47037	D	0.999296	B;B	0.28933	0.228;0.146	B;B	0.27262	0.078;0.036	T	0.63001	-0.6734	10	0.07813	T	0.8	.	9.099	0.36656	0.5482:0.0:0.4518:0.0	.	57;57	Q9H221-2;Q9H221	.;ABCG8_HUMAN	N	57	ENSP00000272286:D57N	ENSP00000272286:D57N	D	+	1	0	ABCG8	43926801	1.000000	0.71417	0.874000	0.34290	0.059000	0.15707	2.941000	0.49011	0.292000	0.22492	-0.793000	0.03317	GAC		0.547	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		28	35	0	0	0	1	0	28	35				
POLN	353497	broad.mit.edu	37	4	2210083	2210083	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:2210083T>G	ENST00000511885.2	-	5	698	c.345A>C	c.(343-345)tcA>tcC	p.S115S	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.S115S			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	115					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTAAACAACTTGAAAGAGTCA	0.398								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(343-345)tcA>tcC	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							78.0	82.0	81.0					4																	2210083		2202	4300	6502	SO:0001819	synonymous_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2210083T>G	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.345A>C	4.37:g.2210083T>G						POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.S115S	p.S115S			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		5	698	-			115					A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	c.345A>C	CCDS3360.1																																																																																				0.398	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		28	48	0	0	0	1	0	28	48				
AFF3	3899	broad.mit.edu	37	2	100199424	100199424	+	Missense_Mutation	SNP	G	G	A	rs190577667		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100199424G>A	ENST00000409236.2	-	15	2741	c.2629C>T	c.(2629-2631)Cgg>Tgg	p.R877W	AFF3_ENST00000409579.1_Missense_Mutation_p.R902W|AFF3_ENST00000317233.4_Missense_Mutation_p.R877W|AFF3_ENST00000356421.2_Missense_Mutation_p.R902W			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	877					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATGGGCGACCGAAGCATTTTT	0.403																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2629-2631)Cgg>Tgg		AF4/FMR2 family, member 3							115.0	108.0	111.0					2																	100199424		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100199424G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2629C>T	2.37:g.100199424G>A	ENSP00000387207:p.Arg877Trp					AFF3_ENST00000409236.1_Missense_Mutation_p.R877W|AFF3_ENST00000409579.1_Missense_Mutation_p.R902W|AFF3_ENST00000356421.2_Missense_Mutation_p.R902W	p.R877W	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			16	2864	-			877					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2629C>T	CCDS42723.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.77	2.930084	0.52759	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	6.07	5.19	0.71726	.	0.000000	0.53938	D	0.000059	T	0.51890	0.1701	L	0.36672	1.1	0.42845	D	0.994069	B;B	0.26041	0.076;0.14	B;B	0.20577	0.03;0.029	T	0.53542	-0.8424	10	0.66056	D	0.02	.	13.1155	0.59297	0.0731:0.0:0.9269:0.0	.	877;902	P51826;P51826-2	AFF3_HUMAN;.	W	877;902;902;877	ENSP00000317421:R877W;ENSP00000348793:R902W;ENSP00000386834:R902W;ENSP00000387207:R877W	ENSP00000317421:R877W	R	-	1	2	AFF3	99565856	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.601000	0.54059	2.885000	0.99019	0.655000	0.94253	CGG		0.403	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		22	37	0	0	0	1	0	22	37				
OSBPL1A	114876	broad.mit.edu	37	18	21819302	21819302	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21819302G>T	ENST00000319481.3	-	16	1532	c.1326C>A	c.(1324-1326)atC>atA	p.I442I	OSBPL1A_ENST00000357041.4_Silent_p.I60I|OSBPL1A_ENST00000399443.3_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	442					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTCTGACAAGATTTTGTTTT	0.443																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1324-1326)atC>atA		oxysterol binding protein-like 1A							81.0	70.0	74.0					18																	21819302		2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21819302G>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1326C>A	18.37:g.21819302G>T						OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Silent_p.I60I	p.I442I	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			16	1532	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		442					B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.1326C>A	CCDS11884.1																																																																																				0.443	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		16	24	1	0	2.23348e-06	1	2.50077e-06	16	24				
FAM161A	84140	broad.mit.edu	37	2	62063239	62063239	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:62063239C>T	ENST00000405894.3	-	4	1690	c.1589G>A	c.(1588-1590)aGc>aAc	p.S530N	FAM161A_ENST00000404929.1_Missense_Mutation_p.S586N	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	530					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCCTTTTCGCTCTTTCTAAA	0.308																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1756-1758)aGc>aAc		family with sequence similarity 161, member A							138.0	141.0	140.0					2																	62063239		1783	4054	5837	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62063239C>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1589G>A	2.37:g.62063239C>T	ENSP00000385893:p.Ser530Asn					FAM161A_ENST00000405894.3_Missense_Mutation_p.S530N	p.S586N	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			5	1768	-			540					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.1757G>A	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	7.261	0.605203	0.14002	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.23552	1.95;1.9	5.56	1.25	0.21368	.	0.649174	0.16287	N	0.221094	T	0.18551	0.0445	L	0.39397	1.21	0.22226	N	0.999274	B;B	0.22480	0.07;0.012	B;B	0.28709	0.093;0.011	T	0.30765	-0.9967	10	0.17832	T	0.49	-18.8836	7.6976	0.28604	0.0:0.5087:0.0:0.4913	.	530;586	Q3B820;Q3B820-3	F161A_HUMAN;.	N	586;530	ENSP00000385158:S586N;ENSP00000385893:S530N	ENSP00000385158:S586N	S	-	2	0	FAM161A	61916743	0.934000	0.31675	0.991000	0.47740	0.150000	0.21749	1.092000	0.30927	0.323000	0.23307	-0.134000	0.14843	AGC		0.308	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		4	107	0	0	0	1	0	4	107				
AIMP1	9255	broad.mit.edu	37	4	107252909	107252909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:107252909C>T	ENST00000442366.1	+	5	524	c.472C>T	c.(472-474)Cga>Tga	p.R158*	AIMP1_ENST00000394701.4_Nonsense_Mutation_p.R182*|AIMP1_ENST00000358008.3_Nonsense_Mutation_p.R158*	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	158	Interaction with HSP90B1. {ECO:0000250}.|Required for endothelial cell migration.|tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TCTGGATCTTCGAATTGGTTG	0.413																																						ENST00000394701.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(544-546)Cga>Tga		aminoacyl tRNA synthetase complex-interacting multifunctional protein 1							176.0	183.0	181.0					4																	107252909		2203	4300	6503	SO:0001587	stop_gained	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107252909C>T	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.472C>T	4.37:g.107252909C>T	ENSP00000405248:p.Arg158*					AIMP1_ENST00000358008.3_Nonsense_Mutation_p.R158*|AIMP1_ENST00000442366.1_Nonsense_Mutation_p.R158*	p.R182*	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN			5	585	+			158			Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.|tRNA-binding.		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Nonsense_Mutation	SNP	ENST00000442366.1	37	c.544C>T	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	C	41	8.823975	0.98968	.	.	ENSG00000164022	ENST00000442366;ENST00000358008;ENST00000394701	.	.	.	5.47	3.7	0.42460	.	0.053544	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.6873	14.5249	0.67881	0.2682:0.7318:0.0:0.0	.	.	.	.	X	158;158;182	.	.	R	+	1	2	AIMP1	107472358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.471000	0.53107	0.645000	0.30675	-0.188000	0.12872	CGA		0.413	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757		55	97	0	0	0	1	0	55	97				
ZNF439	90594	broad.mit.edu	37	19	11978295	11978295	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11978295G>T	ENST00000304030.2	+	3	611	c.411G>T	c.(409-411)atG>atT	p.M137I	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Start_Codon_SNP_p.M1I	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTTCTAATATGAACATCAGAG	0.423																																						ENST00000304030.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(409-411)atG>atT		zinc finger protein 439							205.0	193.0	197.0					19																	11978295		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978295G>T	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.411G>T	19.37:g.11978295G>T	ENSP00000305077:p.Met137Ile					ZNF439_ENST00000455282.1_Start_Codon_SNP_p.M1I|ZNF439_ENST00000592534.1_Intron	p.M137I	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	611	+			137					Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.411G>T	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	6.079	0.382835	0.11524	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.06849	3.25;3.33	0.457	-0.786	0.10946	.	.	.	.	.	T	0.03915	0.0110	N	0.12831	0.26	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46652	-0.9176	9	0.20046	T	0.44	.	5.7863	0.18334	0.2442:0.0:0.7558:0.0	.	137	Q8NDP4	ZN439_HUMAN	I	1;137	ENSP00000395632:M1I;ENSP00000305077:M137I	ENSP00000305077:M137I	M	+	3	0	ZNF439	11839295	0.000000	0.05858	0.003000	0.11579	0.198000	0.23893	-1.467000	0.02352	-0.378000	0.07918	0.194000	0.17425	ATG		0.423	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			68	134	1	0	1.08241e-25	1	1.52617e-25	68	134				
WWP1	11059	broad.mit.edu	37	8	87460450	87460450	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87460450T>G	ENST00000517970.1	+	19	2379	c.2072T>G	c.(2071-2073)cTt>cGt	p.L691R	WWP1_ENST00000265428.4_Missense_Mutation_p.L691R|WWP1_ENST00000349423.2_Missense_Mutation_p.L473R|WWP1_ENST00000341922.2_Missense_Mutation_p.L561R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	691	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGTAAAAAACTTACTATTAAG	0.274																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2071-2073)cTt>cGt		WW domain containing E3 ubiquitin protein ligase 1							45.0	46.0	46.0					8																	87460450		2192	4271	6463	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87460450T>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2072T>G	8.37:g.87460450T>G	ENSP00000427793:p.Leu691Arg					WWP1_ENST00000265428.4_Missense_Mutation_p.L691R|WWP1_ENST00000341922.2_Missense_Mutation_p.L561R|WWP1_ENST00000349423.2_Missense_Mutation_p.L473R	p.L691R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			19	2379	+			691			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.2072T>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775102	0.70107	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.5	5.5	0.81552	HECT (4);	0.068533	0.56097	D	0.000022	T	0.74642	0.3743	M	0.85945	2.785	0.58432	D	0.999997	D;D	0.61697	0.973;0.99	P;D	0.63793	0.898;0.918	T	0.78692	-0.2105	10	0.72032	D	0.01	.	10.0229	0.42055	0.0:0.0752:0.0:0.9248	.	473;691	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	R	691;691;561;473	ENSP00000427793:L691R;ENSP00000265428:L691R;ENSP00000340564:L561R;ENSP00000342665:L473R	ENSP00000265428:L691R	L	+	2	0	WWP1	87529566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.256000	0.72473	2.095000	0.63458	0.533000	0.62120	CTT		0.274	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		4	21	0	0	0	1	0	4	21				
SMCHD1	23347	broad.mit.edu	37	18	2778221	2778221	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:2778221A>C	ENST00000320876.6	+	44	5869	c.5531A>C	c.(5530-5532)aAt>aCt	p.N1844T	SMCHD1_ENST00000261598.8_Missense_Mutation_p.N1844T|Y_RNA_ENST00000384307.1_RNA|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1844					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						GATGCGGCCAATCATTATAGA	0.279																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(5530-5532)aAt>aCt		structural maintenance of chromosomes flexible hinge domain containing 1							64.0	62.0	62.0					18																	2778221		1798	4066	5864	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2778221A>C	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.5531A>C	18.37:g.2778221A>C	ENSP00000326603:p.Asn1844Thr					RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.N1844T	p.N1844T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			44	5869	+			1844					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.5531A>C	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809390	0.70797	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.85484	-1.99;-1.99	5.38	5.38	0.77491	SMCs flexible hinge (3);	0.048923	0.85682	D	0.000000	D	0.88526	0.6460	L	0.41824	1.3	0.39646	D	0.970395	D	0.69078	0.997	D	0.79108	0.992	D	0.89009	0.3427	10	0.45353	T	0.12	-28.0085	13.9681	0.64221	1.0:0.0:0.0:0.0	.	1844	A6NHR9	SMHD1_HUMAN	T	1844	ENSP00000326603:N1844T;ENSP00000261598:N1844T	ENSP00000261598:N1844T	N	+	2	0	SMCHD1	2768221	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.502000	0.66956	2.030000	0.59900	0.377000	0.23210	AAT		0.279	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			7	8	0	0	0	1	0	7	8				
TIAM1	7074	broad.mit.edu	37	21	32638913	32638913	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:32638913T>G	ENST00000286827.3	-	5	847	c.376A>C	c.(376-378)Atg>Ctg	p.M126L	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.M126L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	126					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGTCTGGCATGCTCTGCACA	0.552																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(376-378)Atg>Ctg		T-cell lymphoma invasion and metastasis 1							93.0	77.0	83.0					21																	32638913		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32638913T>G		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.376A>C	21.37:g.32638913T>G	ENSP00000286827:p.Met126Leu					TIAM1_ENST00000541036.1_Missense_Mutation_p.M126L|TIAM1_ENST00000469412.1_Intron	p.M126L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			5	847	-			126					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.376A>C	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602289	0.46423	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.39229	1.11;1.09	5.59	3.24	0.37175	.	0.099482	0.64402	D	0.000002	T	0.32852	0.0843	L	0.44542	1.39	0.38902	D	0.957347	B;B;B	0.26708	0.157;0.098;0.098	B;B;B	0.22386	0.039;0.017;0.017	T	0.12372	-1.0550	10	0.46703	T	0.11	.	9.7423	0.40427	0.0:0.1403:0.0:0.8597	.	126;126;126	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	L	126	ENSP00000286827:M126L;ENSP00000441570:M126L	ENSP00000286827:M126L	M	-	1	0	TIAM1	31560784	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.725000	0.25970	0.410000	0.25675	0.482000	0.46254	ATG		0.552	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		44	60	0	0	0	1	0	44	60				
PCNT	5116	broad.mit.edu	37	21	47773050	47773050	+	Missense_Mutation	SNP	C	C	T	rs371251124		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47773050C>T	ENST00000359568.5	+	10	1596	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	497	Glu-rich.				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)					GCGCACCTCTCGTGTGGAAGA	0.488																																						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.(1489-1491)Cgt>Tgt		pericentrin		C	CYS/ARG	0,4406		0,0,2203	51.0	54.0	53.0		1489	3.8	0.0	21		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCNT	NM_006031.5	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	497/3337	47773050	1,13005	2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47773050C>T	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.1489C>T	21.37:g.47773050C>T	ENSP00000352572:p.Arg497Cys					PCNT_ENST00000480896.1_3'UTR	p.R497C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			10	1596	+	Breast(49;0.112)		497			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1489C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310518	0.40895	0.0	1.16E-4	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01804	4.63	4.68	3.79	0.43588	.	.	.	.	.	T	0.01421	0.0046	N	0.14661	0.345	0.09310	N	1	P;P	0.44044	0.825;0.733	B;B	0.33890	0.172;0.083	T	0.53151	-0.8479	9	0.59425	D	0.04	.	13.3091	0.60370	0.1591:0.8409:0.0:0.0	.	379;497	O95613-2;O95613	.;PCNT_HUMAN	C	497;484	ENSP00000352572:R497C	ENSP00000338675:R484C	R	+	1	0	PCNT	46597478	0.017000	0.18338	0.001000	0.08648	0.006000	0.05464	2.712000	0.47186	0.939000	0.37446	0.563000	0.77884	CGT		0.488	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		19	39	0	0	0	1	0	19	39				
SLC8A1	6546	broad.mit.edu	37	2	40366764	40366764	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40366764G>A	ENST00000403092.1	-	10	2355	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	SLC8A1_ENST00000405269.1_Silent_p.F738F|SLC8A1_ENST00000332839.4_Silent_p.F774F|SLC8A1_ENST00000402441.1_Silent_p.F738F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.F766F|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.F738F|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.F738F|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406785.2_Silent_p.F738F|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.F769F|SLC8A1_ENST00000542756.1_Silent_p.F769F|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	774					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACGTAATCGAAACAGGAGG	0.502																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2212-2214)ttC>ttT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						195.0	170.0	178.0					2																	40366764		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366764G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2322C>T	2.37:g.40366764G>A						SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.F766F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.F769F|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.F738F|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.F774F|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.F738F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.F738F|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.F774F|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F769F|SLC8A1_ENST00000542024.1_Silent_p.F738F	p.F738F			P32418	NAC1_HUMAN			7	2403	-			774					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.2214C>T	CCDS1806.1																																																																																				0.502	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		46	86	0	0	0	1	0	46	86				
CRABP1	1381	broad.mit.edu	37	15	78633519	78633519	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78633519G>A	ENST00000299529.6	+	2	310	c.205G>A	c.(205-207)Gga>Aga	p.G69R		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	69					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	CTTCAAGGTCGGAGAAGGCTT	0.637																																					Ovarian(146;578 3231 38536)	ENST00000299529.6																			0				breast(1)|lung(4)|skin(1)	6						c.(205-207)Gga>Aga		cellular retinoic acid binding protein 1	Alitretinoin(DB00523)|Etretinate(DB00926)						72.0	50.0	57.0					15																	78633519		2194	4293	6487	SO:0001583	missense	1381				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	g.chr15:78633519G>A		CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"""Fatty acid binding protein family"""	2338	protein-coding gene	gene with protein product		180230	"""cellular retinoic acid-binding protein 1"""	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.205G>A	15.37:g.78633519G>A	ENSP00000299529:p.Gly69Arg						p.G69R	NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN			2	310	+			69					Q6IAY7|Q8WTV5	Missense_Mutation	SNP	ENST00000299529.6	37	c.205G>A	CCDS10301.1	.	.	.	.	.	.	.	.	.	.	G	35	5.475947	0.96291	.	.	ENSG00000166426	ENST00000299529	T	0.10099	2.91	5.32	5.32	0.75619	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52801	-0.8527	10	0.87932	D	0	.	18.0024	0.89201	0.0:0.0:1.0:0.0	.	69	P29762	RABP1_HUMAN	R	69	ENSP00000299529:G69R	ENSP00000299529:G69R	G	+	1	0	CRABP1	76420574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.188000	0.94921	2.475000	0.83589	0.655000	0.94253	GGA		0.637	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2	NM_004378		5	14	0	0	0	1	0	5	14				
REL	5966	broad.mit.edu	37	2	61118857	61118857	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61118857G>A	ENST00000295025.8	+	2	370	c.50G>A	c.(49-51)aGg>aAg	p.R17K	REL_ENST00000394479.3_Missense_Mutation_p.R17K	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	17	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GAACAACCCAGGCAGAGGGGA	0.418			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(49-51)aGg>aAg		v-rel avian reticuloendotheliosis viral oncogene homolog							130.0	124.0	126.0					2																	61118857		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61118857G>A	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.50G>A	2.37:g.61118857G>A	ENSP00000295025:p.Arg17Lys					REL_ENST00000394479.3_Missense_Mutation_p.R17K	p.R17K	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		2	370	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	17			RHD.		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.50G>A	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271073	0.40194	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.37752	1.18;1.18	5.44	4.57	0.56435	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.093212	0.64402	D	0.000001	T	0.09730	0.0239	N	0.00303	-1.675	0.44110	D	0.996884	P;P	0.44344	0.54;0.833	B;B	0.40565	0.25;0.333	T	0.39702	-0.9601	10	0.02654	T	1	-19.4763	14.0304	0.64613	0.0725:0.0:0.9275:0.0	.	17;17	Q17RU2;Q04864	.;REL_HUMAN	K	17	ENSP00000295025:R17K;ENSP00000377989:R17K	ENSP00000295025:R17K	R	+	2	0	REL	60972361	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.213000	0.77950	1.318000	0.45170	0.655000	0.94253	AGG		0.418	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		31	44	0	0	0	1	0	31	44				
CFAP69	79846	broad.mit.edu	37	7	89934069	89934069	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:89934069T>G	ENST00000389297.4	+	19	2451	c.2200T>G	c.(2200-2202)Tta>Gta	p.L734V	C7orf63_ENST00000316089.8_Missense_Mutation_p.L688V|C7orf63_ENST00000497910.1_Missense_Mutation_p.L716V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		734										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTTGAAAATTTACCTGGCCT	0.264																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(2200-2202)Tta>Gta		chromosome 7 open reading frame 63							82.0	81.0	81.0					7																	89934069		1789	4051	5840	SO:0001583	missense	79846						binding	g.chr7:89934069T>G																												ENST00000389297.4:c.2200T>G	7.37:g.89934069T>G	ENSP00000373948:p.Leu734Val					C7orf63_ENST00000316089.8_Missense_Mutation_p.L688V|C7orf63_ENST00000497910.1_Missense_Mutation_p.L716V	p.L734V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			19	2451	+			734					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.2200T>G	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.63|17.63	3.437087|3.437087	0.62955|0.62955	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000412839|ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	.|T;T;T;T	.|0.29397	.|2.22;2.13;2.24;1.57	5.79|5.79	3.11|3.11	0.35812|0.35812	.|.	.|0.000000	.|0.56097	.|D	.|0.000028	T|T	0.52240|0.52240	0.1722|0.1722	M|M	0.78801|0.78801	2.425|2.425	0.38159|0.38159	D|D	0.938988|0.938988	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.988;0.996	T|T	0.58261|0.58261	-0.7667|-0.7667	5|10	.|0.62326	.|D	.|0.03	-9.464|-9.464	9.2378|9.2378	0.37477|0.37477	0.0:0.2267:0.0:0.7733|0.0:0.2267:0.0:0.7733	.|.	.|716;734	.|A5D8W1-5;A5D8W1	.|.;CG063_HUMAN	C|V	28|734;688;716;271	.|ENSP00000373948:L734V;ENSP00000321753:L688V;ENSP00000419549:L716V;ENSP00000391571:L271V	.|ENSP00000321753:L688V	F|L	+|+	2|1	0|2	C7orf63|C7orf63	89772005|89772005	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	1.835000|1.835000	0.39181|0.39181	1.022000|1.022000	0.39626|0.39626	-0.256000|-0.256000	0.11100|0.11100	TTT|TTA		0.264	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			14	19	0	0	0	1	0	14	19				
FAT4	79633	broad.mit.edu	37	4	126336725	126336725	+	Missense_Mutation	SNP	C	C	T	rs374328795		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126336725C>T	ENST00000394329.3	+	5	6620	c.6607C>T	c.(6607-6609)Cgg>Tgg	p.R2203W	FAT4_ENST00000335110.5_Missense_Mutation_p.R501W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2203	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGGAATTTCGGATAGACTC	0.443																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6607-6609)Cgg>Tgg		FAT atypical cadherin 4		C	TRP/ARG	0,4406		0,0,2203	151.0	139.0	143.0		6607	2.4	1.0	4		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT4	NM_024582.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2203/4982	126336725	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336725C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6607C>T	4.37:g.126336725C>T	ENSP00000377862:p.Arg2203Trp					FAT4_ENST00000335110.5_Missense_Mutation_p.R501W	p.R2203W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6620	+			2203			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6607C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800489	0.50315	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01787	4.64;4.64	5.6	2.38	0.29361	Cadherin (4);Cadherin-like (1);	0.000000	0.32987	U	0.005412	T	0.07683	0.0193	M	0.65498	2.005	0.44719	D	0.997712	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.03249	-1.1056	10	0.59425	D	0.04	.	11.0546	0.47911	0.3628:0.5321:0.1051:0.0	.	501;2203	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	W	2203;501	ENSP00000377862:R2203W;ENSP00000335169:R501W	ENSP00000335169:R501W	R	+	1	2	FAT4	126556175	1.000000	0.71417	0.991000	0.47740	0.633000	0.38033	1.443000	0.35057	0.625000	0.30304	0.557000	0.71058	CGG		0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		42	94	0	0	0	1	0	42	94				
SFR1	119392	broad.mit.edu	37	10	105885398	105885398	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105885398A>G	ENST00000369727.3	+	4	693	c.674A>G	c.(673-675)cAc>cGc	p.H225R	SFR1_ENST00000369729.3_Missense_Mutation_p.H212R|SFR1_ENST00000336358.5_Missense_Mutation_p.H287R	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	225					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											TTGATAGACCACTATGGGTTA	0.353																																						ENST00000336358.5																			0											c.(859-861)cAc>cGc		SWI5-dependent recombination repair 1							80.0	83.0	82.0					10																	105885398		2203	4300	6503	SO:0001583	missense	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105885398A>G	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.674A>G	10.37:g.105885398A>G	ENSP00000358742:p.His225Arg					SFR1_ENST00000369729.3_Missense_Mutation_p.H212R|SFR1_ENST00000369727.3_Missense_Mutation_p.H225R	p.H287R			Q86XK3	SFR1_HUMAN			3	1379	+			225					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	c.860A>G	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594511	0.28445	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.45668	0.91;0.92;0.89	5.24	2.81	0.32909	.	1.042200	0.07452	N	0.899228	T	0.38295	0.1035	L	0.58101	1.795	0.22728	N	0.998804	P;P	0.41265	0.744;0.662	B;B	0.40825	0.341;0.239	T	0.29181	-1.0020	10	0.38643	T	0.18	0.0387	2.617	0.04907	0.5509:0.1395:0.0711:0.2385	.	287;225	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	R	212;225;287	ENSP00000358744:H212R;ENSP00000358742:H225R;ENSP00000338089:H287R	ENSP00000338089:H287R	H	+	2	0	SFR1	105875388	0.050000	0.20438	0.980000	0.43619	0.976000	0.68499	0.683000	0.25349	0.470000	0.27294	0.524000	0.50904	CAC		0.353	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		12	29	0	0	0	1	0	12	29				
XIAP	331	broad.mit.edu	37	X	123019607	123019607	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123019607C>A	ENST00000371199.3	+	2	394	c.95C>A	c.(94-96)aCt>aAt	p.T32N	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.T32N|XIAP_ENST00000434753.3_Missense_Mutation_p.T32N	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	32					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AGATTAAAAACTTTTGCTAAT	0.378									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(94-96)aCt>aAt		X-linked inhibitor of apoptosis							72.0	76.0	75.0					X																	123019607		2201	4299	6500	SO:0001583	missense	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123019607C>A	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.95C>A	X.37:g.123019607C>A	ENSP00000360242:p.Thr32Asn					XIAP_ENST00000355640.3_Missense_Mutation_p.T32N|XIAP_ENST00000434753.3_Missense_Mutation_p.T32N|XIAP_ENST00000468691.1_Intron	p.T32N	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			2	394	+			32					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.95C>A	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965381	0.74131	.	.	ENSG00000101966	ENST00000434753;ENST00000430625;ENST00000371199;ENST00000355640	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.81	5.81	0.92471	Baculoviral inhibition of apoptosis protein repeat (5);	0.074725	0.56097	D	0.000026	D	0.94013	0.8082	H	0.98068	4.14	0.58432	D	0.999993	D	0.76494	0.999	D	0.72625	0.978	D	0.96010	0.9001	9	.	.	.	.	19.1018	0.93276	0.0:1.0:0.0:0.0	.	32	P98170	XIAP_HUMAN	N	32	ENSP00000395230:T32N;ENSP00000400637:T32N;ENSP00000360242:T32N;ENSP00000347858:T32N	.	T	+	2	0	XIAP	122847288	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.680000	0.54641	2.461000	0.83175	0.508000	0.49915	ACT		0.378	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		47	81	1	0	6.1207e-33	1	8.77752e-33	47	81				
CSMD2	114784	broad.mit.edu	37	1	34006219	34006219	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:34006219A>C	ENST00000373381.4	-	60	9713	c.9537T>G	c.(9535-9537)acT>acG	p.T3179T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3155	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCAGGCATAAGTCACACTTG	0.597																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9535-9537)acT>acG		CUB and Sushi multiple domains 2							114.0	99.0	104.0					1																	34006219		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006219A>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9537T>G	1.37:g.34006219A>C							p.T3179T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			60	9713	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3155			Sushi 25.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.9537T>G																																																																																					0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		38	65	0	0	0	1	0	38	65				
SHROOM4	57477	broad.mit.edu	37	X	50339755	50339755	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50339755G>A	ENST00000289292.7	-	9	4705	c.4422C>T	c.(4420-4422)ctC>ctT	p.L1474L	SHROOM4_ENST00000376020.2_Silent_p.L1474L|SHROOM4_ENST00000460112.3_Silent_p.L1358L|SHROOM4_ENST00000483955.1_5'Flank			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1474	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTCTTCCCCGAGCTTGATCT	0.522																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(4420-4422)ctC>ctT		shroom family member 4							78.0	61.0	67.0					X																	50339755		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50339755G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.4422C>T	X.37:g.50339755G>A						SHROOM4_ENST00000460112.3_Silent_p.L1358L|SHROOM4_ENST00000289292.7_Silent_p.L1474L	p.L1474L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			9	4447	-	Ovarian(276;0.236)		1474			ASD2.		A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.4422C>T	CCDS35277.1																																																																																				0.522	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		14	36	0	0	0	1	0	14	36				
HAUS5	23354	broad.mit.edu	37	19	36108227	36108227	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36108227C>T	ENST00000203166.5	+	8	619	c.594C>T	c.(592-594)ttC>ttT	p.F198F	HAUS5_ENST00000379045.2_Silent_p.F198F	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	198					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGGCCCAGTTCCTGCAGAACC	0.632																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(592-594)ttC>ttT		HAUS augmin-like complex, subunit 5							65.0	70.0	68.0					19																	36108227		1939	4131	6070	SO:0001819	synonymous_variant	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36108227C>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.594C>T	19.37:g.36108227C>T						HAUS5_ENST00000379045.2_Silent_p.F198F	p.F198F	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			8	619	+			198					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	ENST00000203166.5	37	c.594C>T	CCDS42550.1																																																																																				0.632	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			30	51	0	0	0	1	0	30	51				
CYP4V2	285440	broad.mit.edu	37	4	187120134	187120134	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187120134G>T	ENST00000378802.4	+	6	1002	c.698G>T	c.(697-699)aGa>aTa	p.R233I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	233					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ATATTTCGAAGAATAAAGATG	0.373																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(697-699)aGa>aTa		cytochrome P450, family 4, subfamily V, polypeptide 2							136.0	134.0	135.0					4																	187120134		2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187120134G>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.698G>T	4.37:g.187120134G>T	ENSP00000368079:p.Arg233Ile						p.R233I	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	6	1002	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	233					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.698G>T	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871170	0.72065	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.79749	-1.3	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96111	0.9077	10	0.87932	D	0	.	18.0484	0.89340	0.0:0.0:1.0:0.0	.	233	Q6ZWL3	CP4V2_HUMAN	I	233;211	ENSP00000368079:R233I	ENSP00000274118:R211I	R	+	2	0	CYP4V2	187357128	1.000000	0.71417	0.997000	0.53966	0.277000	0.26821	9.256000	0.95535	2.501000	0.84356	0.644000	0.83932	AGA		0.373	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		13	38	1	0	0.00316338	1	0.00328853	13	38				
FCRLB	127943	broad.mit.edu	37	1	161697300	161697300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:161697300G>T	ENST00000367948.2	+	8	1344	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	FCRLB_ENST00000392158.1_Nonsense_Mutation_p.E377*|FCRLB_ENST00000367945.1_3'UTR|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	377					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TCTGCTCCGAGAAATGCAGCT	0.677																																						ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1129-1131)Gaa>Taa		Fc receptor-like B							40.0	45.0	44.0					1																	161697300		2203	4300	6503	SO:0001587	stop_gained	127943					endoplasmic reticulum		g.chr1:161697300G>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.1129G>T	1.37:g.161697300G>T	ENSP00000356925:p.Glu377*					FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000392158.1_Nonsense_Mutation_p.E377*|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_3'UTR|FCRLB_ENST00000495397.1_3'UTR	p.E377*			Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1344	+	all_hematologic(112;0.0359)		377					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Nonsense_Mutation	SNP	ENST00000367948.2	37	c.1129G>T	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	G	38	6.714785	0.97784	.	.	ENSG00000162746	ENST00000367948;ENST00000392158	.	.	.	4.27	3.35	0.38373	.	0.000000	0.44483	D	0.000456	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	7.8965	0.29710	0.1136:0.0:0.8864:0.0	.	.	.	.	X	377	.	ENSP00000356925:E377X	E	+	1	0	FCRLB	159963924	0.998000	0.40836	0.992000	0.48379	0.872000	0.50106	4.056000	0.57448	1.006000	0.39211	-0.391000	0.06502	GAA		0.677	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		30	59	1	0	8.16721e-17	1	1.09032e-16	30	59				
ZNF391	346157	broad.mit.edu	37	6	27369039	27369039	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:27369039G>T	ENST00000244576.4	+	3	1435	c.890G>T	c.(889-891)aGa>aTa	p.R297I	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAACATCAGAGAATCCACAGT	0.478																																						ENST00000244576.4																			0				endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(889-891)aGa>aTa		zinc finger protein 391							71.0	78.0	75.0					6																	27369039		2141	4275	6416	SO:0001583	missense	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27369039G>T	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.890G>T	6.37:g.27369039G>T	ENSP00000244576:p.Arg297Ile						p.R297I	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN			3	1435	+			297					B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	c.890G>T	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579243	0.65878	.	.	ENSG00000124613	ENST00000244576	T	0.24908	1.83	3.91	3.03	0.35002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37046	0.0989	M	0.81942	2.565	0.45690	D	0.998605	D	0.89917	1.0	D	0.81914	0.995	T	0.27054	-1.0085	9	0.59425	D	0.04	.	8.728	0.34480	0.1159:0.0:0.8841:0.0	.	297	Q9UJN7	ZN391_HUMAN	I	297	ENSP00000244576:R297I	ENSP00000244576:R297I	R	+	2	0	ZNF391	27477018	0.031000	0.19500	0.994000	0.49952	0.975000	0.68041	2.052000	0.41316	0.610000	0.30035	0.557000	0.71058	AGA		0.478	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		21	34	1	0	1.87028e-06	1	2.10206e-06	21	34				
ACAD8	27034	broad.mit.edu	37	11	134127029	134127029	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134127029C>T	ENST00000281182.4	+	3	364	c.258C>T	c.(256-258)ttC>ttT	p.F86F	ACAD8_ENST00000543332.1_Intron|ACAD8_ENST00000537423.1_Silent_p.F9F|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000374752.4_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	86					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	AGCTAGGCTTCGGAGGGGTCT	0.547																																					GBM(65;238 1125 33403 41853 48889)	ENST00000281182.4																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(256-258)ttC>ttT		acyl-CoA dehydrogenase family, member 8							102.0	93.0	96.0					11																	134127029		2201	4297	6498	SO:0001819	synonymous_variant	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134127029C>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.258C>T	11.37:g.134127029C>T						ACAD8_ENST00000543332.1_Intron|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000537423.1_Silent_p.F9F|ACAD8_ENST00000374752.4_Intron	p.F86F	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	3	364	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	86					B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	37	c.258C>T	CCDS8498.1																																																																																				0.547	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		24	62	0	0	0	1	0	24	62				
RYR3	6263	broad.mit.edu	37	15	34130278	34130278	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34130278G>A	ENST00000389232.4	+	89	12167	c.12097G>A	c.(12097-12099)Gag>Aag	p.E4033K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4028K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4033					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGACGCATCGAGATCATGGG	0.488																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12097-12099)Gag>Aag		ryanodine receptor 3							105.0	105.0	105.0					15																	34130278		1948	4150	6098	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130278G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12097G>A	15.37:g.34130278G>A	ENSP00000373884:p.Glu4033Lys					RYR3_ENST00000415757.3_Missense_Mutation_p.E4028K	p.E4033K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12167	+		all_lung(180;7.18e-09)	4033					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12097G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218068	0.79352	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.97941	-4.62	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99795	1.1033	10	0.87932	D	0	.	18.7376	0.91761	0.0:0.0:1.0:0.0	.	4028;4033	Q15413-2;Q15413	.;RYR3_HUMAN	K	4033;4029	ENSP00000373884:E4033K	ENSP00000354735:E4029K	E	+	1	0	RYR3	31917570	1.000000	0.71417	0.999000	0.59377	0.759000	0.43091	9.530000	0.98051	2.650000	0.89964	0.551000	0.68910	GAG		0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			45	84	0	0	0	1	0	45	84				
LPCAT3	10162	broad.mit.edu	37	12	7086403	7086403	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7086403G>A	ENST00000261407.4	-	12	1454	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F	LPCAT3_ENST00000535021.1_5'UTR|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	457					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ATGTGGCCAAGGAAATAGATG	0.443																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1369-1371)Ctt>Ttt		lysophosphatidylcholine acyltransferase 3							88.0	89.0	89.0					12																	7086403		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086403G>A	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1369C>T	12.37:g.7086403G>A	ENSP00000261407:p.Leu457Phe					U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	p.L457F	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			12	1454	-			457					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.1369C>T	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	5.891	0.348532	0.11126	.	.	ENSG00000111684	ENST00000261407	T	0.72505	-0.66	4.77	2.85	0.33270	.	0.534882	0.19418	N	0.114779	T	0.38427	0.1040	N	0.12887	0.27	0.26831	N	0.96857	P	0.39216	0.664	B	0.27500	0.08	T	0.26849	-1.0091	10	0.10902	T	0.67	-6.3451	4.2996	0.10918	0.0754:0.1268:0.4119:0.3859	.	457	Q6P1A2	MBOA5_HUMAN	F	457	ENSP00000261407:L457F	ENSP00000261407:L457F	L	-	1	0	LPCAT3	6956664	0.989000	0.36119	0.933000	0.37362	0.952000	0.60782	0.571000	0.23669	0.555000	0.29079	0.561000	0.74099	CTT		0.443	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		23	40	0	0	0	1	0	23	40				
SPATA4	132851	broad.mit.edu	37	4	177113898	177113898	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:177113898C>A	ENST00000280191.2	-	4	676	c.568G>T	c.(568-570)Gat>Tat	p.D190Y	SPATA4_ENST00000515234.1_Missense_Mutation_p.D17Y	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	190						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		CTAATGTTATCTTTAATAGAC	0.368																																						ENST00000515234.1																			0				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22						c.(49-51)Gat>Tat		spermatogenesis associated 4							74.0	75.0	74.0					4																	177113898		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177113898C>A	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.568G>T	4.37:g.177113898C>A	ENSP00000280191:p.Asp190Tyr					SPATA4_ENST00000280191.2_Missense_Mutation_p.D190Y	p.D17Y			Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	3	1644	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	190					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.49G>T	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928334	0.52759	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.22539	1.95	5.27	-0.213	0.13165	.	0.346265	0.30320	N	0.009896	T	0.25195	0.0612	L	0.39898	1.24	0.09310	N	1	D	0.62365	0.991	P	0.61070	0.883	T	0.06516	-1.0822	10	0.72032	D	0.01	-9.3996	4.5287	0.11994	0.1648:0.3033:0.0:0.5319	.	190	Q8NEY3	SPAT4_HUMAN	Y	190;17	ENSP00000280191:D190Y	ENSP00000280191:D190Y	D	-	1	0	SPATA4	177350892	0.826000	0.29277	0.928000	0.36995	0.986000	0.74619	-0.071000	0.11505	0.041000	0.15688	0.655000	0.94253	GAT		0.368	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		7	23	1	0	0.00198382	1	0.00207034	7	23				
POTEG	404785	broad.mit.edu	37	14	19553564	19553564	+	Missense_Mutation	SNP	G	G	A	rs369726800		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:19553564G>A	ENST00000409832.3	+	1	200	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	50										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGACCACGACGATTCTGC	0.607																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(148-150)Gac>Aac		POTE ankyrin domain family, member G		A	ASN/ASP	5,4379		0,5,2187	86.0	119.0	108.0		148		0.0	14		108	0,8566		0,0,4283	no	missense	POTEG	NM_001005356.2	23	0,5,6470	AA,AG,GG		0.0,0.1141,0.0386	possibly-damaging	50/509	19553564	5,12945	2192	4283	6475	SO:0001583	missense	404785							g.chr14:19553564G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.148G>A	14.37:g.19553564G>A	ENSP00000386971:p.Asp50Asn						p.D50N	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	200	+			50					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.148G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.739	0.505135	0.12822	0.001141	0.0	ENSG00000222036	ENST00000409832	T	0.39997	1.05	.	.	.	.	.	.	.	.	T	0.24509	0.0594	L	0.43152	1.355	0.09310	N	1	D	0.53462	0.96	B	0.30943	0.122	T	0.17258	-1.0375	7	0.56958	D	0.05	.	.	.	.	.	50	Q6S5H5	POTEG_HUMAN	N	50	ENSP00000386971:D50N	ENSP00000386971:D50N	D	+	1	0	POTEG	18623564	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-0.414000	0.07114	0.162000	0.19483	0.165000	0.16767	GAC		0.607	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		88	603	0	0	0	1	0	88	603				
SRRM4	84530	broad.mit.edu	37	12	119588844	119588844	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:119588844G>A	ENST00000267260.4	+	10	1487	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	367	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACCGTGTCTGGAATGTGCCGA	0.557																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1099-1101)Gaa>Aaa		serine/arginine repetitive matrix 4							66.0	71.0	70.0					12																	119588844		1985	4164	6149	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119588844G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1099G>A	12.37:g.119588844G>A	ENSP00000267260:p.Glu367Lys						p.E367K	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			10	1487	+			367			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1099G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610957	0.66558	.	.	ENSG00000139767	ENST00000267260	T	0.22539	1.95	5.49	4.58	0.56647	.	0.369797	0.28114	N	0.016551	T	0.15955	0.0384	L	0.36672	1.1	0.23975	N	0.996297	B	0.26809	0.16	B	0.25291	0.059	T	0.17048	-1.0382	9	.	.	.	-9.7587	9.9976	0.41909	0.0758:0.1429:0.7813:0.0	.	367	A7MD48	SRRM4_HUMAN	K	367	ENSP00000267260:E367K	.	E	+	1	0	SRRM4	118073227	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.015000	0.40961	1.394000	0.46624	0.655000	0.94253	GAA		0.557	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		12	20	0	0	0	1	0	12	20				
ZRANB3	84083	broad.mit.edu	37	2	135965024	135965024	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135965024A>G	ENST00000264159.6	-	19	3105	c.2989T>C	c.(2989-2991)Tca>Cca	p.S997P	ZRANB3_ENST00000401392.1_Missense_Mutation_p.S995P|ZRANB3_ENST00000536680.1_Missense_Mutation_p.S995P|ZRANB3_ENST00000412849.1_5'UTR	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	997					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGGAGCTTTGAAGTCCAGGTA	0.378																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(2983-2985)Tca>Cca		zinc finger, RAN-binding domain containing 3							190.0	181.0	184.0					2																	135965024		1871	4109	5980	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965024A>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2989T>C	2.37:g.135965024A>G	ENSP00000264159:p.Ser997Pro					ZRANB3_ENST00000536680.1_Missense_Mutation_p.S995P|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.S997P	p.S995P			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	3195	-			997					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.2983T>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.558004	0.65538	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91351	-2.83;-2.83;-2.81	5.81	3.36	0.38483	HNH nuclease (1);	0.466802	0.23074	N	0.052240	D	0.92014	0.7470	M	0.68317	2.08	0.32635	N	0.521437	D;D	0.63880	0.987;0.993	P;P	0.58130	0.685;0.833	D	0.91456	0.5185	10	0.59425	D	0.04	-6.2817	7.5977	0.28058	0.5897:0.2723:0.0:0.1381	.	997;995	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	P	460;460;995;997;995	ENSP00000383979:S995P;ENSP00000264159:S997P;ENSP00000441320:S995P	ENSP00000264159:S997P	S	-	1	0	ZRANB3	135681494	0.719000	0.27986	0.971000	0.41717	0.966000	0.64601	1.475000	0.35409	0.419000	0.25927	-0.438000	0.05819	TCA		0.378	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		13	123	0	0	0	1	0	13	123				
MRPL39	54148	broad.mit.edu	37	21	26978793	26978793	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:26978793T>G	ENST00000352957.4	-	2	289	c.248A>C	c.(247-249)aAa>aCa	p.K83T	MRPL39_ENST00000307301.7_Missense_Mutation_p.K83T	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	83						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGAAATGTTTTTATTCATCAC	0.433																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.(247-249)aAa>aCa		mitochondrial ribosomal protein L39							128.0	111.0	117.0					21																	26978793		2203	4300	6503	SO:0001583	missense	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26978793T>G	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.248A>C	21.37:g.26978793T>G	ENSP00000284967:p.Lys83Thr					MRPL39_ENST00000352957.4_Missense_Mutation_p.K83T	p.K83T	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN			2	289	-			83					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.248A>C	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287301	0.80803	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.45276	0.9;0.9;0.9	5.36	5.36	0.76844	.	0.106561	0.64402	D	0.000004	T	0.64811	0.2632	M	0.81942	2.565	0.53005	D	0.999966	D;D	0.67145	0.996;0.991	D;D	0.66979	0.948;0.93	T	0.67241	-0.5720	10	0.45353	T	0.12	-14.9421	15.1549	0.72733	0.0:0.0:0.0:1.0	.	83;83	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	T	83	ENSP00000284967:K83T;ENSP00000305682:K83T;ENSP00000404426:K83T	ENSP00000305682:K83T	K	-	2	0	MRPL39	25900664	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.573000	0.67417	2.247000	0.74100	0.482000	0.46254	AAA		0.433	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		10	25	0	0	0	1	0	10	25				
LIPJ	142910	broad.mit.edu	37	10	90356596	90356596	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:90356596T>G	ENST00000371939.3	+	8	940	c.626T>G	c.(625-627)tTc>tGc	p.F209C		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	209					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTTAAAAAATTCATTGGTTCA	0.308																																						ENST00000371939.3																			0				large_intestine(4)|lung(4)|ovary(1)	9						c.(625-627)tTc>tGc		lipase, family member J							73.0	86.0	82.0					10																	90356596		2202	4294	6496	SO:0001583	missense	142910				lipid catabolic process		hydrolase activity	g.chr10:90356596T>G	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.626T>G	10.37:g.90356596T>G	ENSP00000361007:p.Phe209Cys						p.F209C	NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	8	940	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	209					A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	c.626T>G	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.465583	0.26335	.	.	ENSG00000204022	ENST00000371939	T	0.62232	0.04	4.12	2.97	0.34412	Alpha/beta hydrolase fold-1 (1);	0.000000	0.43919	D	0.000504	T	0.74741	0.3756	M	0.86502	2.82	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.63400	-0.6646	10	0.38643	T	0.18	-11.8555	3.7696	0.08636	0.0:0.2:0.1894:0.6105	.	209	Q5W064	LIPJ_HUMAN	C	209	ENSP00000361007:F209C	ENSP00000361007:F209C	F	+	2	0	LIPJ	90346576	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.402000	0.20965	0.735000	0.32537	-0.386000	0.06593	TTC		0.308	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		13	47	0	0	0	1	0	13	47				
GSE1	23199	broad.mit.edu	37	16	85696959	85696959	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85696959T>C	ENST00000253458.7	+	11	2559	c.2383T>C	c.(2383-2385)Ttt>Ctt	p.F795L	GSE1_ENST00000393243.1_Missense_Mutation_p.F722L|GSE1_ENST00000405402.2_Missense_Mutation_p.F691L	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	795																	GAAGCTAGAGTTTTTGCAACT	0.547																																						ENST00000253458.7																			0											c.(2383-2385)Ttt>Ctt		Gse1 coiled-coil protein							104.0	123.0	116.0					16																	85696959		2198	4300	6498	SO:0001583	missense	23199							g.chr16:85696959T>C	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2383T>C	16.37:g.85696959T>C	ENSP00000253458:p.Phe795Leu					GSE1_ENST00000393243.1_Missense_Mutation_p.F722L|GSE1_ENST00000405402.2_Missense_Mutation_p.F691L	p.F795L	NM_014615.2	NP_055430.1					11	2559	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.2383T>C	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.018010	0.93404	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.72505	-0.62;-0.58;-0.66	5.21	5.21	0.72293	.	0.050531	0.85682	D	0.000000	T	0.79112	0.4391	M	0.70275	2.135	0.54753	D	0.999982	D;D	0.60160	0.984;0.987	P;P	0.55923	0.681;0.787	T	0.79743	-0.1675	10	0.41790	T	0.15	-9.7456	14.7541	0.69549	0.0:0.0:0.0:1.0	.	722;795	Q14687-3;Q14687	.;GSE1_HUMAN	L	691;795;722	ENSP00000384839:F691L;ENSP00000253458:F795L;ENSP00000376934:F722L	ENSP00000253458:F795L	F	+	1	0	KIAA0182	84254460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.508000	0.81686	1.973000	0.57446	0.459000	0.35465	TTT		0.547	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		78	124	0	0	0	1	0	78	124				
DHX57	90957	broad.mit.edu	37	2	39055483	39055483	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39055483G>A	ENST00000295373.6	-	14	2764	c.2638C>T	c.(2638-2640)Cga>Tga	p.R880*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	880	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTAGCTTACCGATTACTACGT	0.388																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e14+1		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							128.0	123.0	125.0					2																	39055483		2203	4300	6503	SO:0001630	splice_region_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39055483G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2639+1C>T	2.37:g.39055483G>A							p.R880_splice	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			14	2764	-		all_hematologic(82;0.248)	880			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Splice_Site	SNP	ENST00000295373.6	37	c.2639_splice	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.465105|5.465105	0.96257|0.96257	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.40144|.	N|.	0.001161|.	.|T	.|0.63861	.|0.2547	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69183	.|-0.5212	.|3	0.02654|.	T|.	1|.	.|.	13.404|13.404	0.60900|0.60900	0.0:0.0:0.7369:0.2631|0.0:0.0:0.7369:0.2631	.|.	.|.	.|.	.|.	X|L	880|203	.|.	ENSP00000295373:R880X|.	R|S	-|-	1|2	2|0	DHX57|DHX57	38908987|38908987	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.967000|0.967000	0.64934|0.64934	2.498000|2.498000	0.45363|0.45363	2.567000|2.567000	0.86603|0.86603	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.388	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	Nonsense_Mutation	10	23	0	0	0	1	0	10	23				
SMYD4	114826	broad.mit.edu	37	17	1703308	1703308	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1703308C>T	ENST00000305513.7	-	5	1547	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	460	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TTGGGATGGCCTGTAAACTGG	0.502																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(1378-1380)caG>caA		SET and MYND domain containing 4							99.0	79.0	86.0					17																	1703308		2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1703308C>T	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1380G>A	17.37:g.1703308C>T							p.Q460Q	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			5	1547	-			460			SET.		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.1380G>A	CCDS11013.1																																																																																				0.502	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		26	37	0	0	0	1	0	26	37				
SENP7	57337	broad.mit.edu	37	3	101086730	101086730	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101086730T>G	ENST00000394095.2	-	8	975	c.922A>C	c.(922-924)Aat>Cat	p.N308H	SENP7_ENST00000314261.7_Missense_Mutation_p.N242H|SENP7_ENST00000394091.1_Missense_Mutation_p.N144H|SENP7_ENST00000394094.2_Missense_Mutation_p.N243H|SENP7_ENST00000358203.3_Missense_Mutation_p.N144H|SENP7_ENST00000348610.3_Missense_Mutation_p.N275H	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	308						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTAAATTATTTCTAAGCCTT	0.328																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(922-924)Aat>Cat		SUMO1/sentrin specific peptidase 7							127.0	139.0	135.0					3																	101086730		2202	4299	6501	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101086730T>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.922A>C	3.37:g.101086730T>G	ENSP00000377655:p.Asn308His					SENP7_ENST00000394094.2_Missense_Mutation_p.N243H|SENP7_ENST00000394091.1_Missense_Mutation_p.N144H|SENP7_ENST00000314261.7_Missense_Mutation_p.N242H|SENP7_ENST00000348610.3_Missense_Mutation_p.N275H|SENP7_ENST00000358203.3_Missense_Mutation_p.N144H	p.N308H	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			8	975	-			308					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.922A>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	9.433	1.086170	0.20390	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18016	2.24;2.24;2.25;2.25;2.25;2.24	5.29	1.53	0.23141	.	0.815097	0.11666	N	0.541373	T	0.11110	0.0271	N	0.22421	0.69	0.09310	N	1	D;P;P;P	0.54964	0.969;0.643;0.697;0.571	P;B;B;B	0.44811	0.461;0.264;0.332;0.178	T	0.18304	-1.0341	10	0.66056	D	0.02	0.186	2.119	0.03721	0.1591:0.0859:0.1664:0.5885	.	144;242;275;308	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	H	308;243;242;144;144;275	ENSP00000377655:N308H;ENSP00000377654:N243H;ENSP00000313624:N242H;ENSP00000377651:N144H;ENSP00000350936:N144H;ENSP00000342159:N275H	ENSP00000313624:N242H	N	-	1	0	SENP7	102569420	0.898000	0.30612	0.069000	0.20011	0.092000	0.18411	0.669000	0.25142	0.117000	0.18138	-0.265000	0.10407	AAT		0.328	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		35	43	0	0	0	1	0	35	43				
SMARCAD1	56916	broad.mit.edu	37	4	95201893	95201893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95201893C>T	ENST00000354268.4	+	20	2642	c.2569C>T	c.(2569-2571)Cga>Tga	p.R857*	SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R859*|SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R427*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	857					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGGAAAATTTCGAGTTTTAGG	0.308																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2569-2571)Cga>Tga		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							122.0	127.0	125.0					4																	95201893		2203	4300	6503	SO:0001587	stop_gained	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95201893C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2569C>T	4.37:g.95201893C>T	ENSP00000346217:p.Arg857*					SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R859*|SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R427*	p.R857*			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	20	2642	+			857					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Nonsense_Mutation	SNP	ENST00000354268.4	37	c.2569C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	40	8.262102	0.98732	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.66	4.73	0.59995	.	0.225469	0.22811	N	0.055359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-1.2706	11.2597	0.49076	0.4003:0.5997:0.0:0.0	.	.	.	.	X	859;859;857;427	.	ENSP00000346217:R857X	R	+	1	2	SMARCAD1	95420916	0.913000	0.31002	0.997000	0.53966	0.993000	0.82548	1.429000	0.34903	2.673000	0.90976	0.650000	0.86243	CGA		0.308	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		41	59	0	0	0	1	0	41	59				
DLX5	1749	broad.mit.edu	37	7	96650352	96650352	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:96650352C>A	ENST00000222598.4	-	3	1039	c.566G>T	c.(565-567)aGa>aTa	p.R189I	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	189					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GATCTTGGATCTTTTGTTCTG	0.587																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(565-567)aGa>aTa		distal-less homeobox 5							68.0	71.0	70.0					7																	96650352		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96650352C>A		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.566G>T	7.37:g.96650352C>A	ENSP00000222598:p.Arg189Ile					DLX5_ENST00000493764.1_5'UTR	p.R189I	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			3	1039	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		189					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.566G>T	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687430	0.68157	.	.	ENSG00000105880	ENST00000222598	D	0.99311	-5.73	5.08	5.08	0.68730	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96835	0.9614	10	0.87932	D	0	-8.8132	18.6767	0.91531	0.0:1.0:0.0:0.0	.	189	P56178	DLX5_HUMAN	I	189	ENSP00000222598:R189I	ENSP00000222598:R189I	R	-	2	0	DLX5	96488288	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	7.604000	0.82830	2.640000	0.89533	0.655000	0.94253	AGA		0.587	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			11	26	1	0	1.61879e-10	1	1.99092e-10	11	26				
KCNT1	57582	broad.mit.edu	37	9	138656879	138656879	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138656879C>T	ENST00000263604.3	+	12	981	c.981C>T	c.(979-981)ttC>ttT	p.F327F	KCNT1_ENST00000488444.2_Silent_p.F327F|KCNT1_ENST00000487664.1_Silent_p.F301F|KCNT1_ENST00000486577.2_Silent_p.F307F|KCNT1_ENST00000298480.5_Silent_p.F346F|KCNT1_ENST00000490355.2_Silent_p.F327F|KCNT1_ENST00000491806.2_Silent_p.F313F|KCNT1_ENST00000371757.2_Silent_p.F346F			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	327					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTGCAGTTCGAGGAGCTCG	0.632																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1036-1038)ttC>ttT		potassium channel, subfamily T, member 1							73.0	67.0	69.0					9																	138656879		2200	4300	6500	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138656879C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.981C>T	9.37:g.138656879C>T						KCNT1_ENST00000490355.2_Silent_p.F327F|KCNT1_ENST00000487664.1_Silent_p.F301F|KCNT1_ENST00000263604.3_Silent_p.F327F|KCNT1_ENST00000486577.2_Silent_p.F307F|KCNT1_ENST00000488444.2_Silent_p.F327F|KCNT1_ENST00000491806.2_Silent_p.F313F|KCNT1_ENST00000371757.2_Silent_p.F346F	p.F346F			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	12	1112	+		Myeloproliferative disorder(178;0.0821)	346					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.1038C>T																																																																																					0.632	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		10	17	0	0	0	1	0	10	17				
RBM12	10137	broad.mit.edu	37	20	34241692	34241692	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:34241692C>T	ENST00000374114.3	-	3	1816	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	RBM12_ENST00000374104.3_Missense_Mutation_p.R518Q|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.R518Q|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	518						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAGTCTTTTTCGAATCATATC	0.398																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1552-1554)cGa>cAa		RNA binding motif protein 12							181.0	176.0	178.0					20																	34241692		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241692C>T	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1553G>A	20.37:g.34241692C>T	ENSP00000363228:p.Arg518Gln					CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R518Q|RBM12_ENST00000359646.1_Missense_Mutation_p.R518Q	p.R518Q	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	1816	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		518					B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1553G>A	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088002	0.55968	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.15256	2.44;2.44;2.44	4.64	3.69	0.42338	.	0.000000	0.64402	D	0.000004	T	0.11879	0.0289	L	0.27053	0.805	0.80722	D	1	B	0.30281	0.275	B	0.22386	0.039	T	0.09143	-1.0688	10	0.44086	T	0.13	-5.5429	12.9119	0.58184	0.0:0.9218:0.0:0.0782	.	518	Q9NTZ6	RBM12_HUMAN	Q	518;518;518;317	ENSP00000363228:R518Q;ENSP00000352668:R518Q;ENSP00000363217:R518Q	ENSP00000339879:R317Q	R	-	2	0	RBM12	33705106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.530000	0.67141	1.173000	0.42796	0.561000	0.74099	CGA		0.398	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		61	115	0	0	0	1	0	61	115				
GZMK	3003	broad.mit.edu	37	5	54329702	54329702	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54329702A>C	ENST00000231009.2	+	5	813	c.743A>C	c.(742-744)aAg>aCg	p.K248T	CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	248	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTGTTAACCAAGAAATACCAG	0.423																																						ENST00000231009.2																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(742-744)aAg>aCg		granzyme K (granzyme 3; tryptase II)							111.0	103.0	105.0					5																	54329702		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54329702A>C	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.743A>C	5.37:g.54329702A>C	ENSP00000231009:p.Lys248Thr					CTD-2313F11.1_ENST00000595218.1_RNA	p.K248T	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN			5	813	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	248			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.743A>C	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023110	0.35701	.	.	ENSG00000113088	ENST00000231009	D	0.88818	-2.43	4.84	3.68	0.42216	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.452591	0.23065	N	0.052336	D	0.84243	0.5429	L	0.38953	1.18	0.09310	N	0.999997	P	0.35527	0.507	P	0.44772	0.46	T	0.72164	-0.4373	10	0.24483	T	0.36	.	5.1618	0.15066	0.7255:0.1815:0.093:0.0	.	248	P49863	GRAK_HUMAN	T	248	ENSP00000231009:K248T	ENSP00000231009:K248T	K	+	2	0	GZMK	54365459	0.000000	0.05858	0.265000	0.24526	0.834000	0.47266	0.026000	0.13599	0.966000	0.38159	0.533000	0.62120	AAG		0.423	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		8	38	0	0	0	1	0	8	38				
MAD2L2	10459	broad.mit.edu	37	1	11735151	11735151	+	Silent	SNP	C	C	T	rs141637184		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11735151C>T	ENST00000235310.3	-	10	1510	c.582G>A	c.(580-582)tcG>tcA	p.S194S	MAD2L2_ENST00000376672.1_Silent_p.S207S|MAD2L2_ENST00000376667.3_Silent_p.S194S|MAD2L2_ENST00000376669.5_Silent_p.S207S|MAD2L2_ENST00000376692.4_Silent_p.S194S			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	194	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with ipaB.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTAAAATGTCCGACGTCATGG	0.552								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0.0	0.0014	5008	,	,		17596	0.0		0.0	False		,,,				2504	0.0					ENST00000235310.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(580-582)tcG>tcA	DNA polymerases (catalytic subunits)	MAD2 mitotic arrest deficient-like 2 (yeast)		C	,	26,4380	33.5+/-64.1	0,26,2177	70.0	77.0	75.0		582,582	-2.6	0.8	1	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MAD2L2	NM_001127325.1,NM_006341.3	,	0,27,6476	TT,TC,CC		0.0116,0.5901,0.2076	,	194/212,194/212	11735151	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	10459				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding	g.chr1:11735151C>T	AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"""DNA polymerases"""	6764	protein-coding gene	gene with protein product	"""mitotic arrest deficient homolog-like 2"", ""polymerase (DNA-directed), zeta 2, accessory subunit"""	604094	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"""			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.582G>A	1.37:g.11735151C>T						MAD2L2_ENST00000376669.5_Silent_p.S207S|MAD2L2_ENST00000376672.1_Silent_p.S207S|MAD2L2_ENST00000376667.3_Silent_p.S194S|MAD2L2_ENST00000376692.4_Silent_p.S194S	p.S194S			Q9UI95	MD2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	10	1510	-	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	194			HORMA.|Mediates interaction with ipaB.		B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Silent	SNP	ENST00000235310.3	37	c.582G>A	CCDS134.1																																																																																				0.552	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006344.2	NM_006341		11	45	0	0	0	1	0	11	45				
C11orf54	28970	broad.mit.edu	37	11	93487178	93487178	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93487178T>G	ENST00000331239.4	+	5	484	c.305T>G	c.(304-306)tTt>tGt	p.F102C	C11orf54_ENST00000528099.1_Missense_Mutation_p.F102C|C11orf54_ENST00000540113.1_Missense_Mutation_p.F83C|C11orf54_ENST00000354421.3_Missense_Mutation_p.F102C|C11orf54_ENST00000528288.1_Missense_Mutation_p.F102C			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	102					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAGGTCCATTTCAGACTCTC	0.338																																						ENST00000528288.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8						c.(304-306)tTt>tGt		chromosome 11 open reading frame 54							91.0	104.0	100.0					11																	93487178		2198	4298	6496	SO:0001583	missense	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93487178T>G	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.305T>G	11.37:g.93487178T>G	ENSP00000331209:p.Phe102Cys					C11orf54_ENST00000540113.1_Missense_Mutation_p.F83C|C11orf54_ENST00000528099.1_Missense_Mutation_p.F102C|C11orf54_ENST00000354421.3_Missense_Mutation_p.F102C|C11orf54_ENST00000331239.4_Missense_Mutation_p.F102C	p.F102C	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN			5	540	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	102					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37	c.305T>G		.	.	.	.	.	.	.	.	.	.	T	15.55	2.865515	0.51588	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000531650;ENST00000524485;ENST00000527363;ENST00000526335	.	.	.	4.95	4.95	0.65309	Domain of unknown function DUF1907 (1);	0.385067	0.32884	N	0.005536	T	0.60117	0.2244	M	0.68593	2.085	0.34774	D	0.733996	D;P;D	0.58620	0.983;0.956;0.983	P;P;P	0.60068	0.868;0.455;0.868	T	0.70963	-0.4729	9	0.46703	T	0.11	-10.086	3.087	0.06280	0.2057:0.1281:0.0:0.6662	.	102;102;102	Q9H0W9;Q9H0W9-3;A8K718	CK054_HUMAN;.;.	C	102;102;102;102;83;83;102;83;102;102	.	ENSP00000331209:F102C	F	+	2	0	C11orf54	93126826	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.247000	0.32815	2.090000	0.63153	0.482000	0.46254	TTT		0.338	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		8	99	0	0	0	1	0	8	99				
RFX7	64864	broad.mit.edu	37	15	56388073	56388073	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:56388073T>C	ENST00000559447.2	-	9	1833	c.1562A>G	c.(1561-1563)aAt>aGt	p.N521S	RFX7_ENST00000422057.1_Missense_Mutation_p.N521S|RFX7_ENST00000317318.6_Missense_Mutation_p.N618S|RFX7_ENST00000423270.1_Missense_Mutation_p.N618S			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	521					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGTGCTTTGATTATTGCCTGT	0.413																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1852-1854)aAt>aGt		regulatory factor X, 7							93.0	89.0	90.0					15																	56388073		1999	4167	6166	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388073T>C			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1562A>G	15.37:g.56388073T>C	ENSP00000453281:p.Asn521Ser					RFX7_ENST00000422057.1_Missense_Mutation_p.N521S|RFX7_ENST00000317318.6_Missense_Mutation_p.N618S|RFX7_ENST00000559447.2_Missense_Mutation_p.N521S	p.N618S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1852	-			521					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1853A>G		.	.	.	.	.	.	.	.	.	.	T	13.87	2.366116	0.41902	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.54675	0.56;0.56;0.56	5.5	3.11	0.35812	.	0.000000	0.64402	D	0.000001	T	0.34454	0.0898	N	0.19112	0.55	0.40581	D	0.981397	B;B	0.22276	0.067;0.024	B;B	0.18871	0.023;0.007	T	0.22417	-1.0217	10	0.87932	D	0	-17.8902	7.9648	0.30091	0.0:0.0726:0.1356:0.7918	.	521;521	Q2KHR2;C9JU50	RFX7_HUMAN;.	S	521;618;618	ENSP00000387504:N521S;ENSP00000313299:N618S;ENSP00000397644:N618S	ENSP00000313299:N618S	N	-	2	0	RFX7	54175365	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	2.689000	0.46993	0.886000	0.36113	0.533000	0.62120	AAT		0.413	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		21	18	0	0	0	1	0	21	18				
KDM5B	10765	broad.mit.edu	37	1	202711856	202711856	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202711856G>A	ENST00000367265.3	-	17	3565	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C	KDM5B_ENST00000367264.2_Missense_Mutation_p.R837C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	801					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTGACTAGGCGAAGGTGTCGC	0.443																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(2401-2403)Cgc>Tgc		lysine (K)-specific demethylase 5B							130.0	121.0	124.0					1																	202711856		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202711856G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2401C>T	1.37:g.202711856G>A	ENSP00000356234:p.Arg801Cys					KDM5B_ENST00000367264.2_Missense_Mutation_p.R837C	p.R801C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			17	3565	-			801					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2401C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278679	0.80692	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	T;T;T	0.50813	0.73;0.73;0.73	5.74	5.74	0.90152	Lysine-specific demethylase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.985	T	0.73139	-0.4077	10	0.87932	D	0	-17.9716	19.9346	0.97133	0.0:0.0:1.0:0.0	.	837;801	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	801;643;837;643;170	ENSP00000356234:R801C;ENSP00000356233:R837C;ENSP00000235790:R643C	ENSP00000235790:R643C	R	-	1	0	KDM5B	200978479	0.951000	0.32395	0.952000	0.39060	0.921000	0.55340	2.040000	0.41203	2.712000	0.92718	0.563000	0.77884	CGC		0.443	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		38	79	0	0	0	1	0	38	79				
NPY4R	5540	broad.mit.edu	37	10	47086821	47086821	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47086821A>C	ENST00000395716.1	+	2	123	c.38A>C	c.(37-39)aAa>aCa	p.K13T	NPY4R_ENST00000374312.1_Missense_Mutation_p.K13T			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	13					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CTGCTCCCAAAATCTCCACAA	0.493																																						ENST00000374312.1																			0											c.(37-39)aAa>aCa		neuropeptide Y receptor Y4							115.0	109.0	111.0					10																	47086821		2203	4300	6503	SO:0001583	missense	0							g.chr10:47086821A>C		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.38A>C	10.37:g.47086821A>C	ENSP00000379066:p.Lys13Thr					NPY4R_ENST00000395716.1_Missense_Mutation_p.K13T	p.K13T	NM_005972.4	NP_005963.3					3	457	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.38A>C	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.589093	0.00864	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.69685	-0.42;-0.42	4.67	-6.79	0.01715	.	23.724200	0.00903	U	0.002375	T	0.35624	0.0938	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	10	0.12103	T	0.63	.	0.9609	0.01395	0.2473:0.343:0.1911:0.2186	.	13	P50391	NPY4R_HUMAN	T	13	ENSP00000363431:K13T;ENSP00000379066:K13T	ENSP00000363431:K13T	K	+	2	0	PPYR1	46506827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.719000	0.04974	-0.999000	0.03442	-0.177000	0.13119	AAA		0.493	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			22	80	0	0	0	1	0	22	80				
PCDH15	65217	broad.mit.edu	37	10	55569282	55569282	+	Missense_Mutation	SNP	G	G	T	rs530412749		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55569282G>T	ENST00000395438.1	-	36	4972	c.4578C>A	c.(4576-4578)aaC>aaA	p.N1526K	PCDH15_ENST00000395440.1_Missense_Mutation_p.P444T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.P375T|PCDH15_ENST00000409834.1_Missense_Mutation_p.N1137K|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1510T|PCDH15_ENST00000395446.1_Missense_Mutation_p.P706T	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAACCTTTGGTTTTTTAATT	0.413										HNSCC(58;0.16)																												ENST00000395438.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4576-4578)aaC>aaA		protocadherin-related 15							178.0	178.0	178.0					10																	55569282		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569282G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395438.1:c.4578C>A	10.37:g.55569282G>T	ENSP00000378826:p.Asn1526Lys	HNSCC(58;0.16)				PCDH15_ENST00000395442.1_Missense_Mutation_p.P375T|PCDH15_ENST00000395440.1_Missense_Mutation_p.P444T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1510T|PCDH15_ENST00000409834.1_Missense_Mutation_p.N1137K|PCDH15_ENST00000395446.1_Missense_Mutation_p.P706T|PCDH15_ENST00000373965.2_Intron	p.N1526K	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN			36	4972	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395438.1	37	c.4578C>A	CCDS44400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.72|18.72	3.684564|3.684564	0.68157|0.68157	.|.	.|.	ENSG00000150275|ENSG00000150275	ENST00000395438;ENST00000409834|ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T|T;T;T;T	0.56941|0.70399	0.45;0.43|-0.48;0.39;-0.41;0.38	5.88|5.88	4.92|4.92	0.64577|0.64577	.|.	.|.	.|.	.|.	.|.	T|T	0.48333|0.48333	0.1494|0.1494	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|B;B	0.17038|0.29716	0.02|0.255;0.255	B|B;B	0.11329|0.26614	0.006|0.071;0.071	T|T	0.46652|0.46652	-0.9176|-0.9176	9|9	0.87932|0.23891	D|T	0|0.37	.|.	12.2707|12.2707	0.54704|0.54704	0.0:0.1275:0.7408:0.1317|0.0:0.1275:0.7408:0.1317	.|.	1526|1508;1510	A2A3E3|C6ZEF5;A2A3E2	.|.;.	K|T	1526;1137|1510;706;375;444	ENSP00000378826:N1526K;ENSP00000386693:N1137K|ENSP00000378832:P1510T;ENSP00000378833:P706T;ENSP00000378829:P375T;ENSP00000378827:P444T	ENSP00000378826:N1526K|ENSP00000378827:P444T	N|P	-|-	3|1	2|0	PCDH15|PCDH15	55239288|55239288	0.976000|0.976000	0.34144|0.34144	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	1.589000|1.589000	0.36644|0.36644	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.413	PCDH15-017	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291344.1	NM_033056		14	150	1	0	6.72482e-11	1	8.31618e-11	14	150				
ANGPTL1	9068	broad.mit.edu	37	1	178834092	178834092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178834092C>A	ENST00000234816.2	-	3	1267	c.820G>T	c.(820-822)Gaa>Taa	p.E274*	ANGPTL1_ENST00000367629.1_Nonsense_Mutation_p.E274*|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	274	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						AACTCACCTTCATTGATGAAA	0.393																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(820-822)Gaa>Taa		angiopoietin-like 1							53.0	53.0	53.0					1																	178834092		2203	4299	6502	SO:0001587	stop_gained	9068					extracellular space	receptor binding	g.chr1:178834092C>A	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.820G>T	1.37:g.178834092C>A	ENSP00000234816:p.Glu274*					RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Nonsense_Mutation_p.E274*|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron	p.E274*	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			3	1267	-			274			Fibrinogen C-terminal.		Q5T5Z5	Nonsense_Mutation	SNP	ENST00000234816.2	37	c.820G>T	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	40	8.183602	0.98693	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	.	.	.	5.32	5.32	0.75619	.	0.177282	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.9552	0.92655	0.0:1.0:0.0:0.0	.	.	.	.	X	274;274;238	.	ENSP00000234816:E274X	E	-	1	0	ANGPTL1	177100715	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.015000	0.76387	2.639000	0.89480	0.650000	0.86243	GAA		0.393	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		12	39	1	0	1.08611e-07	1	1.25818e-07	12	39				
RYR2	6262	broad.mit.edu	37	1	237870481	237870481	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237870481G>A	ENST00000366574.2	+	68	10130	c.9813G>A	c.(9811-9813)gaG>gaA	p.E3271E	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.E3269E|RYR2_ENST00000542537.1_Silent_p.E3255E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3271					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAACTCAGAGCACATGAACA	0.483																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9811-9813)gaG>gaA		ryanodine receptor 2 (cardiac)							56.0	55.0	55.0					1																	237870481		2012	4176	6188	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870481G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9813G>A	1.37:g.237870481G>A						RYR2_ENST00000360064.6_Silent_p.E3269E|RYR2_ENST00000542537.1_Silent_p.E3255E	p.E3271E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	10130	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3271					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.9813G>A	CCDS55691.1																																																																																				0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	18	0	0	0	1	0	15	18				
SFMBT2	57713	broad.mit.edu	37	10	7285548	7285548	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7285548T>G	ENST00000361972.4	-	9	1182	c.1092A>C	c.(1090-1092)aaA>aaC	p.K364N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K364N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	364					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.K364N(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGACTCCATTTTTAAGGCACC	0.448																																						ENST00000361972.4																			1	Substitution - Missense(1)	p.K364N(1)	large_intestine(1)	NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1090-1092)aaA>aaC		Scm-like with four mbt domains 2							94.0	89.0	91.0					10																	7285548		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7285548T>G	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1092A>C	10.37:g.7285548T>G	ENSP00000355109:p.Lys364Asn					SFMBT2_ENST00000397167.1_Missense_Mutation_p.K364N	p.K364N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			9	1182	-			364					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1092A>C	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140990	0.77775	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.32988	1.43;1.43	5.3	4.17	0.49024	.	0.043715	0.85682	D	0.000000	T	0.51907	0.1702	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51505	-0.8697	10	0.52906	T	0.07	.	10.9561	0.47358	0.0:0.0731:0.0:0.9269	.	364	Q5VUG0	SMBT2_HUMAN	N	364	ENSP00000355109:K364N;ENSP00000380353:K364N	ENSP00000355109:K364N	K	-	3	2	SFMBT2	7325554	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.663000	0.46774	0.978000	0.38470	0.533000	0.62120	AAA		0.448	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		24	51	0	0	0	1	0	24	51				
UGT2B15	7366	broad.mit.edu	37	4	69535816	69535816	+	Missense_Mutation	SNP	C	C	T	rs377015117		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69535816C>T	ENST00000338206.5	-	1	530	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	174				LYSLRFSV -> VYRSRISR (in Ref. 7; AAA83406). {ECO:0000305}.	cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	AACAGAGAATCGAAGACTGTA	0.408																																						ENST00000338206.5																			0											c.(520-522)cGa>cAa		UDP glucuronosyltransferase 2 family, polypeptide B15		C	GLN/ARG	0,4406		0,0,2203	240.0	242.0	241.0		521	1.9	0.0	4		241	1,8591	1.2+/-3.3	0,1,4295	no	missense	UGT2B15	NM_001076.2	43	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	174/531	69535816	1,12997	2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535816C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.521G>A	4.37:g.69535816C>T	ENSP00000341045:p.Arg174Gln						p.R174Q	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	530	-			174	LYSLRFSV -> VYRSRISR (in Ref. 6; AAA83406).				A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.521G>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	12.64	1.999855	0.35320	0.0	1.16E-4	ENSG00000196620	ENST00000338206	T	0.63417	-0.04	2.79	1.93	0.25924	.	0.000000	0.64402	U	0.000011	T	0.70718	0.3256	M	0.92555	3.32	0.24126	N	0.995782	P	0.46784	0.884	P	0.46850	0.529	T	0.64980	-0.6279	10	0.54805	T	0.06	.	7.6682	0.28443	0.0:0.8631:0.0:0.1368	.	174	P54855	UDB15_HUMAN	Q	174	ENSP00000341045:R174Q	ENSP00000341045:R174Q	R	-	2	0	UGT2B15	69218411	0.767000	0.28508	0.018000	0.16275	0.005000	0.04900	2.233000	0.43027	0.484000	0.27630	0.442000	0.29010	CGA		0.408	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		14	205	0	0	0	1	0	14	205				
WISP1	8840	broad.mit.edu	37	8	134232915	134232915	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134232915C>T	ENST00000250160.6	+	3	547	c.441C>T	c.(439-441)atC>atT	p.I147I	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	147	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCACGTGCATCGACGGCGCGG	0.662																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(439-441)atC>atT		WNT1 inducible signaling pathway protein 1							100.0	84.0	89.0					8																	134232915		2203	4300	6503	SO:0001819	synonymous_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232915C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.441C>T	8.37:g.134232915C>T						WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron	p.I147I	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	547	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		147			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.441C>T	CCDS6371.1																																																																																				0.662	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		44	89	0	0	0	1	0	44	89				
GRIK4	2900	broad.mit.edu	37	11	120690496	120690496	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120690496C>T	ENST00000527524.2	+	6	665	c.378C>T	c.(376-378)ttC>ttT	p.F126F	GRIK4_ENST00000438375.2_Silent_p.F126F	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	126					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CAGAGGAGTTCGTCAAGTTCC	0.532																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(376-378)ttC>ttT		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						235.0	240.0	238.0					11																	120690496		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120690496C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.378C>T	11.37:g.120690496C>T						GRIK4_ENST00000438375.2_Silent_p.F126F	p.F126F			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	6	665	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	126					A8K9L1	Silent	SNP	ENST00000527524.2	37	c.378C>T	CCDS8433.1																																																																																				0.532	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		102	208	0	0	0	1	0	102	208				
OCLM	10896	broad.mit.edu	37	1	186370207	186370207	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186370207G>T	ENST00000574641.1	+	1	504	c.30G>T	c.(28-30)aaG>aaT	p.K10N	C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000287859.6_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	10					visual perception (GO:0007601)												TATTGTTAAAGATTTACCTTA	0.338																																						ENST00000574641.1																			0											c.(28-30)aaG>aaT		oculomedin							201.0	189.0	193.0					1																	186370207		1837	4087	5924	SO:0001583	missense	10896				visual perception			g.chr1:186370207G>T	AF142063	CCDS58051.1	1q31.1	2013-09-24			ENSG00000262180	ENSG00000262180			8103	protein-coding gene	gene with protein product		604301				10362512	Standard	NM_022375		Approved		uc001gry.3	Q9Y5M6	OTTHUMG00000177601	ENST00000574641.1:c.30G>T	1.37:g.186370207G>T	ENSP00000460371:p.Lys10Asn					C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000287859.6_Intron	p.K10N	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN			1	504	+			10					Q4G0F9	Missense_Mutation	SNP	ENST00000574641.1	37	c.30G>T	CCDS58051.1																																																																																				0.338	OCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438012.1	NM_022375		31	54	1	0	9.65963e-10	1	1.17364e-09	31	54				
HEG1	57493	broad.mit.edu	37	3	124720800	124720800	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124720800A>G	ENST00000311127.4	-	11	3480	c.3413T>C	c.(3412-3414)gTg>gCg	p.V1138A		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1138					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAATAGCGTCACATTGGAGGC	0.502																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(3412-3414)gTg>gCg		heart development protein with EGF-like domains 1							84.0	81.0	82.0					3																	124720800		2004	4181	6185	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124720800A>G	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3413T>C	3.37:g.124720800A>G	ENSP00000311502:p.Val1138Ala						p.V1138A	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			11	3480	-			1138					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.3413T>C	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230695	0.79688	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.90788	-2.73;0.48	5.65	5.65	0.86999	.	0.000000	0.34879	U	0.003609	D	0.90501	0.7024	L	0.34521	1.04	0.51012	D	0.999909	P	0.51653	0.947	P	0.56612	0.802	D	0.89826	0.3992	10	0.38643	T	0.18	.	14.2543	0.66040	1.0:0.0:0.0:0.0	.	1138	Q9ULI3	HEG1_HUMAN	A	1138;22	ENSP00000311502:V1138A;ENSP00000417648:V22A	ENSP00000311502:V1138A	V	-	2	0	HEG1	126203490	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.645000	0.54389	2.371000	0.80710	0.533000	0.62120	GTG		0.502	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		13	24	0	0	0	1	0	13	24				
RREB1	6239	broad.mit.edu	37	6	7240690	7240690	+	Intron	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7240690T>G	ENST00000349384.6	+	11	4122				RREB1_ENST00000379938.2_Missense_Mutation_p.C1276W|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.C1276W	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTTCCCTTGTCAAAAATGCG	0.413																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3826-3828)tgT>tgG		ras responsive element binding protein 1							109.0	108.0	108.0					6																	7240690		2203	4300	6503	SO:0001627	intron_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7240690T>G	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3809-5967T>G	6.37:g.7240690T>G						RREB1_ENST00000349384.6_Intron|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.C1276W	p.C1276W	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			11	4365	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1272					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.3828T>G	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061660	0.76187	.	.	ENSG00000124782	ENST00000379938;ENST00000334984	D;D	0.85258	-1.96;-1.96	5.17	5.17	0.71159	.	.	.	.	.	D	0.95236	0.8455	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.97102	0.9798	9	0.87932	D	0	-8.5385	14.8501	0.70289	0.0:0.0:0.0:1.0	.	1276;1276	Q92766-3;Q92766-2	.;.	W	1276	ENSP00000369270:C1276W;ENSP00000335574:C1276W	ENSP00000335574:C1276W	C	+	3	2	RREB1	7185689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.299000	0.51826	2.167000	0.68274	0.528000	0.53228	TGT		0.413	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			7	87	0	0	0	1	0	7	87				
PEG10	23089	broad.mit.edu	37	7	94292899	94292899	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94292899G>A	ENST00000482108.1	+	2	510	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	PEG10_ENST00000488574.1_Missense_Mutation_p.E11K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	11					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CGAGCTCTCTGAAGAGATCAA	0.527																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(31-33)Gaa>Aaa		paternally expressed 10							41.0	47.0	45.0					7																	94292899		2031	4157	6188	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94292899G>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.31G>A	7.37:g.94292899G>A	ENSP00000417587:p.Glu11Lys					PEG10_ENST00000488574.1_Missense_Mutation_p.E11K	p.E11K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	510	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		11					Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.31G>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485390	0.44147	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.12774	2.65;2.65	4.35	3.45	0.39498	.	.	.	.	.	T	0.08891	0.0220	N	0.19112	0.55	0.09310	N	1	B;B	0.30914	0.164;0.3	B;B	0.23275	0.027;0.045	T	0.22730	-1.0208	9	0.52906	T	0.07	.	10.351	0.43937	0.0:0.1998:0.8002:0.0	.	87;11	B4DSP0;Q86TG7	.;PEG10_HUMAN	K	11	ENSP00000417587:E11K;ENSP00000418944:E11K	ENSP00000417587:E11K	E	+	1	0	PEG10	94130835	0.230000	0.23740	0.628000	0.29241	0.913000	0.54294	1.948000	0.40303	1.170000	0.42753	0.555000	0.69702	GAA		0.527	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		12	7	0	0	0	1	0	12	7				
RYR3	6263	broad.mit.edu	37	15	34040342	34040342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34040342C>T	ENST00000389232.4	+	54	8087	c.8017C>T	c.(8017-8019)Cga>Tga	p.R2673*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2673*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2673	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGCCTGCGCGAGAGTCCCT	0.527																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8017-8019)Cga>Tga		ryanodine receptor 3							83.0	89.0	87.0					15																	34040342		1985	4173	6158	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34040342C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8017C>T	15.37:g.34040342C>T	ENSP00000373884:p.Arg2673*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2673*	p.R2673*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	54	8087	+		all_lung(180;7.18e-09)	2673			4 X approximate repeats.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.8017C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	49	16.019640	0.99852	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.18	-0.151	0.13411	.	0.054075	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2029	0.65716	0.475:0.525:0.0:0.0	.	.	.	.	X	2673	.	ENSP00000354735:R2673X	R	+	1	2	RYR3	31827634	0.998000	0.40836	0.996000	0.52242	0.991000	0.79684	2.309000	0.43699	-0.180000	0.10637	-0.262000	0.10625	CGA		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			24	61	0	0	0	1	0	24	61				
WNK3	65267	broad.mit.edu	37	X	54277993	54277993	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54277993G>T	ENST00000375159.2	-	13	2494	c.2495C>A	c.(2494-2496)tCt>tAt	p.S832Y	WNK3_ENST00000354646.2_Missense_Mutation_p.S832Y|WNK3_ENST00000375169.3_Missense_Mutation_p.S832Y			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	832					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CACAGTAATAGAATCAACTCC	0.378																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2494-2496)tCt>tAt		WNK lysine deficient protein kinase 3							80.0	75.0	77.0					X																	54277993		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54277993G>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2495C>A	X.37:g.54277993G>T	ENSP00000364301:p.Ser832Tyr					WNK3_ENST00000375159.2_Missense_Mutation_p.S832Y|WNK3_ENST00000375169.3_Missense_Mutation_p.S832Y	p.S832Y	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			14	2933	-			832					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.2495C>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	8.617	0.890480	0.17613	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.30981	1.51;1.51;1.51	5.31	1.39	0.22231	.	0.603523	0.15745	N	0.246708	T	0.23492	0.0568	L	0.32530	0.975	0.09310	N	1	P;P	0.42620	0.785;0.679	B;B	0.42422	0.387;0.216	T	0.09037	-1.0693	10	0.66056	D	0.02	2.2802	7.2352	0.26066	0.1583:0.2675:0.5743:0.0	.	832;832	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Y	832	ENSP00000364312:S832Y;ENSP00000346667:S832Y;ENSP00000364301:S832Y	ENSP00000346667:S832Y	S	-	2	0	WNK3	54294718	0.001000	0.12720	0.001000	0.08648	0.460000	0.32559	0.852000	0.27764	0.094000	0.17404	0.422000	0.28245	TCT		0.378	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		11	21	1	0	3.07112e-06	1	3.42433e-06	11	21				
KNG1	3827	broad.mit.edu	37	3	186460097	186460097	+	Missense_Mutation	SNP	G	G	A	rs376740037		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186460097G>A	ENST00000265023.4	+	10	2124	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000609726.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	638					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TTATTATTTCGATCTCACTGA	0.373																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(1912-1914)Gat>Aat		kininogen 1	Ouabain(DB01092)	G	,ASN/ASP,	0,3636		0,0,1818	92.0	87.0	89.0		,1912,	-1.6	0.0	3		89	1,8159		0,1,4079	no	intron,missense,intron	KNG1	NM_000893.3,NM_001102416.2,NM_001166451.1	,23,	0,1,5897	AA,AG,GG		0.0123,0.0,0.0085	,benign,	,638/645,	186460097	1,11795	1818	4080	5898	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186460097G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1912G>A	3.37:g.186460097G>A	ENSP00000265023:p.Asp638Asn					KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA	p.D638N	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	10	2124	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		638					A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1912G>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	3.251	-0.153178	0.06585	0.0	1.23E-4	ENSG00000113889	ENST00000265023	T	0.18174	2.23	5.28	-1.57	0.08506	.	0.543366	0.16927	N	0.193836	T	0.09992	0.0245	N	0.20986	0.625	0.09310	N	0.99999	B	0.11235	0.004	B	0.04013	0.001	T	0.32348	-0.9910	9	.	.	.	-4.8529	12.105	0.53807	0.3051:0.0:0.6949:0.0	.	638	P01042	KNG1_HUMAN	N	638	ENSP00000265023:D638N	.	D	+	1	0	KNG1	187942791	0.370000	0.25047	0.015000	0.15790	0.001000	0.01503	0.218000	0.17622	-0.546000	0.06216	-1.458000	0.01028	GAT		0.373	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		28	46	0	0	0	1	0	28	46				
MAMLD1	10046	broad.mit.edu	37	X	149638113	149638113	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149638113G>T	ENST00000370401.2	+	4	578	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.D90Y|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000432680.2_Missense_Mutation_p.D65Y|MAMLD1_ENST00000426613.2_Missense_Mutation_p.D65Y			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	90					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTTGAAGATGTCACCCT	0.502																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(268-270)Gat>Tat		mastermind-like domain containing 1							110.0	108.0	109.0					X																	149638113		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638113G>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.268G>T	X.37:g.149638113G>T	ENSP00000359428:p.Asp90Tyr					MAMLD1_ENST00000432680.2_Missense_Mutation_p.D65Y|MAMLD1_ENST00000262858.5_Missense_Mutation_p.D90Y|MAMLD1_ENST00000426613.2_Missense_Mutation_p.D65Y|MAMLD1_ENST00000468306.1_3'UTR	p.D90Y			Q13495	MAMD1_HUMAN			4	578	+	Acute lymphoblastic leukemia(192;6.56e-05)		90					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.268G>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301228	0.60195	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.78003	-0.67;-1.14;-0.67;-0.7	5.36	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.86205	0.5877	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.91635	0.999;0.999;0.908;0.999	D	0.87350	0.2337	10	0.87932	D	0	-8.5593	15.2704	0.73696	0.0:0.1371:0.8629:0.0	.	52;65;65;90	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	Y	52;90;65;90;90;65	ENSP00000359428:D90Y;ENSP00000414517:D65Y;ENSP00000262858:D90Y;ENSP00000397438:D65Y	ENSP00000262858:D90Y	D	+	1	0	MAMLD1	149388771	1.000000	0.71417	0.907000	0.35723	0.934000	0.57294	5.770000	0.68873	1.022000	0.39626	0.600000	0.82982	GAT		0.502	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		45	99	1	0	6.7651e-33	1	9.6967e-33	45	99				
RTKN2	219790	broad.mit.edu	37	10	63957810	63957810	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:63957810G>A	ENST00000373789.3	-	12	1783	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	563					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTGGCAGGCAGAAGTTTTCGA	0.438																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1687-1689)Ctg>Ttg		rhotekin 2							165.0	148.0	154.0					10																	63957810		2203	4300	6503	SO:0001819	synonymous_variant	219790				signal transduction	intracellular		g.chr10:63957810G>A	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1687C>T	10.37:g.63957810G>A						RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	p.L563L	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1783	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		563					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	c.1687C>T	CCDS7263.1																																																																																				0.438	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		22	52	0	0	0	1	0	22	52				
KIAA1377	57562	broad.mit.edu	37	11	101833270	101833270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:101833270G>T	ENST00000263468.8	+	6	1774	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	KIAA1377_ENST00000537689.1_Nonsense_Mutation_p.E303*	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	502										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGATGGTAAAGAAGAAGAGAT	0.323																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(1504-1506)Gaa>Taa		KIAA1377							37.0	37.0	37.0					11																	101833270		2203	4296	6499	SO:0001587	stop_gained	57562						protein binding	g.chr11:101833270G>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1504G>T	11.37:g.101833270G>T	ENSP00000263468:p.Glu502*					KIAA1377_ENST00000537689.1_Nonsense_Mutation_p.E303*	p.E502*	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1774	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	502					Q4G0U6	Nonsense_Mutation	SNP	ENST00000263468.8	37	c.1504G>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	37	6.143527	0.97320	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	.	.	.	5.02	2.02	0.26589	.	0.628571	0.15622	N	0.252848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-2.2471	2.6735	0.05075	0.1599:0.1531:0.5385:0.1484	.	.	.	.	X	502;303	.	ENSP00000263468:E502X	E	+	1	0	KIAA1377	101338480	0.789000	0.28775	0.128000	0.21923	0.011000	0.07611	1.361000	0.34136	0.204000	0.20548	-0.309000	0.09137	GAA		0.323	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		10	10	1	0	0.00829132	1	0.00855608	10	10				
IL16	3603	broad.mit.edu	37	15	81565534	81565534	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:81565534G>T	ENST00000302987.4	+	5	779	c.779G>T	c.(778-780)aGg>aTg	p.R260M	IL16_ENST00000394660.2_Missense_Mutation_p.R260M			Q14005	IL16_HUMAN	interleukin 16	260	Interaction with GRIN2A.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCGATGGAAGGCTACAGGAA	0.517																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(778-780)aGg>aTg		interleukin 16							41.0	45.0	43.0					15																	81565534		1947	4150	6097	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81565534G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.779G>T	15.37:g.81565534G>T	ENSP00000302935:p.Arg260Met					IL16_ENST00000302987.4_Missense_Mutation_p.R260M	p.R260M	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			6	1139	+			260			Interaction with GRIN2A.|PDZ 1.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.779G>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218340	0.79464	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.44881	0.91;0.91	4.92	4.92	0.64577	PDZ/DHR/GLGF (4);	0.000000	0.43919	D	0.000514	T	0.69486	0.3116	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74822	-0.3534	10	0.66056	D	0.02	.	18.3191	0.90231	0.0:0.0:1.0:0.0	.	260;260	Q14005;Q14005-2	IL16_HUMAN;.	M	260;260;92;260	ENSP00000378155:R260M;ENSP00000302935:R260M	ENSP00000302935:R260M	R	+	2	0	IL16	79352589	1.000000	0.71417	0.291000	0.24904	0.085000	0.17905	8.422000	0.90262	2.580000	0.87095	0.655000	0.94253	AGG		0.517	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		16	35	1	0	1.15088e-07	1	1.32965e-07	16	35				
TBC1D8B	54885	broad.mit.edu	37	X	106093368	106093368	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106093368C>A	ENST00000357242.5	+	12	2125	c.1951C>A	c.(1951-1953)Ctc>Atc	p.L651I	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L645I	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	651	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCTTGGTTTCTCACACTTTT	0.413																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1951-1953)Ctc>Atc		TBC1 domain family, member 8B (with GRAM domain)							242.0	186.0	205.0					X																	106093368		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106093368C>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1951C>A	X.37:g.106093368C>A	ENSP00000349781:p.Leu651Ile					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L645I	p.L651I	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			12	2125	+			651			Rab-GAP TBC.		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1951C>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769321	0.90020	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.13307	2.6;2.6	5.2	5.2	0.72013	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.38957	0.1060	M	0.74546	2.27	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.22556	-1.0213	10	0.59425	D	0.04	-7.1289	16.2861	0.82722	0.0:1.0:0.0:0.0	.	651	Q0IIM8	TBC8B_HUMAN	I	651;645	ENSP00000349781:L651I;ENSP00000276175:L645I	ENSP00000276175:L645I	L	+	1	0	TBC1D8B	105980024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.148000	0.66965	0.594000	0.82650	CTC		0.413	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		28	43	1	0	1.33986e-20	1	1.83757e-20	28	43				
C16orf62	57020	broad.mit.edu	37	16	19702791	19702791	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19702791G>A	ENST00000251143.5	+	29	2656	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	C16orf62_ENST00000448695.1_Missense_Mutation_p.E732K|C16orf62_ENST00000417362.2_Missense_Mutation_p.E789K|C16orf62_ENST00000543152.1_Missense_Mutation_p.E631K|C16orf62_ENST00000542263.1_Missense_Mutation_p.E878K|C16orf62_ENST00000438132.3_Missense_Mutation_p.E971K			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	882						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGCCAAGGACGAGGTGGGTGC	0.537																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2911-2913)Gag>Aag		chromosome 16 open reading frame 62							102.0	78.0	86.0					16																	19702791		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19702791G>A		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2644G>A	16.37:g.19702791G>A	ENSP00000251143:p.Glu882Lys					C16orf62_ENST00000251143.5_Missense_Mutation_p.E882K|C16orf62_ENST00000448695.1_Missense_Mutation_p.E732K|C16orf62_ENST00000542263.1_Missense_Mutation_p.E878K|C16orf62_ENST00000417362.2_Missense_Mutation_p.E789K|C16orf62_ENST00000543152.1_Missense_Mutation_p.E631K	p.E971K	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			29	2959	+			882					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.2911G>A		.	.	.	.	.	.	.	.	.	.	G	16.58	3.164012	0.57476	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	L	0.33485	1.01	0.51767	D	0.999939	D;B	0.65815	0.995;0.104	D;B	0.70716	0.97;0.017	T	0.40534	-0.9558	9	.	.	.	-25.5346	11.85	0.52405	0.0809:0.0:0.9191:0.0	.	878;882	F5H7K1;Q7Z3J2	.;CP062_HUMAN	K	971;878;882;789;732	ENSP00000400815:E971K;ENSP00000442468:E878K;ENSP00000251143:E882K;ENSP00000395973:E789K;ENSP00000398009:E732K	.	E	+	1	0	C16orf62	19610292	1.000000	0.71417	0.992000	0.48379	0.783000	0.44284	8.061000	0.89467	2.365000	0.80145	0.491000	0.48974	GAG		0.537	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		9	15	0	0	0	1	0	9	15				
AUTS2	26053	broad.mit.edu	37	7	70227923	70227923	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70227923G>T	ENST00000342771.4	+	7	1131	c.810G>T	c.(808-810)aaG>aaT	p.K270N	AUTS2_ENST00000406775.2_Missense_Mutation_p.K270N	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	270										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TTGTCCCCAAGATATCGGGTC	0.547																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(808-810)aaG>aaT		autism susceptibility candidate 2							172.0	174.0	173.0					7																	70227923		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70227923G>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.810G>T	7.37:g.70227923G>T	ENSP00000344087:p.Lys270Asn					AUTS2_ENST00000406775.2_Missense_Mutation_p.K270N	p.K270N	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1131	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	270					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.810G>T	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.50|19.50	3.838419|3.838419	0.71373|0.71373	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000416482|ENST00000406775;ENST00000342771	.|T;T	.|0.52754	.|0.65;0.76	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.047227	.|0.85682	.|D	.|0.000000	T|T	0.53417|0.53417	0.1795|0.1795	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.995	.|P;P	.|0.61592	.|0.891;0.891	T|T	0.53136|0.53136	-0.8481|-0.8481	5|9	.|.	.|.	.|.	-22.3609|-22.3609	5.9132|5.9132	0.19039|0.19039	0.2283:0.0:0.7717:0.0|0.2283:0.0:0.7717:0.0	.|.	.|270;270	.|Q8WXX7-2;Q8WXX7	.|.;AUTS2_HUMAN	Y|N	51|270	.|ENSP00000385263:K270N;ENSP00000344087:K270N	.|.	D|K	+|+	1|3	0|2	AUTS2|AUTS2	69865859|69865859	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.701000|4.701000	0.61810|0.61810	2.561000|2.561000	0.86390|0.86390	0.557000|0.557000	0.71058|0.71058	GAT|AAG		0.547	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			80	144	1	0	9.59377e-39	1	1.38358e-38	80	144				
MMRN1	22915	broad.mit.edu	37	4	90816089	90816089	+	De_novo_Start_OutOfFrame	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90816089T>G	ENST00000394980.1	+	0	286				MMRN1_ENST00000394981.1_5'Flank|MMRN1_ENST00000264790.2_De_novo_Start_OutOfFrame			Q13201	MMRN1_HUMAN	multimerin 1						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGTCCCCAAATTTCACATGAG	0.423																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72								multimerin 1							35.0	38.0	37.0					4																	90816089		2203	4300	6503			22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816089T>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.-34T>G	4.37:g.90816089T>G						MMRN1_ENST00000264790.2_De_novo_Start_OutOfFrame				Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	0	286	+		Hepatocellular(203;0.114)						Q4W5L1|Q6P3T8|Q6ZUL9	Translation_Start_Site	SNP	ENST00000394980.1	37		CCDS3635.1																																																																																				0.423	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		14	26	0	0	0	1	0	14	26				
SEMA6A	57556	broad.mit.edu	37	5	115822462	115822462	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:115822462A>C	ENST00000343348.6	-	10	1732	c.945T>G	c.(943-945)ttT>ttG	p.F315L	SEMA6A_ENST00000257414.8_Missense_Mutation_p.F315L|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.F315L|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'Flank	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	315	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AAGGTGTAGAAAACGTTGCCA	0.438																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(943-945)ttT>ttG		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							130.0	126.0	128.0					5																	115822462		1975	4185	6160	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115822462A>C	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.945T>G	5.37:g.115822462A>C	ENSP00000345512:p.Phe315Leu					CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.F315L|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.F315L	p.F315L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	10	1732	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	315			Sema.		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.945T>G	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375523	0.82682	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	T;T;T	0.61510	0.1;0.1;0.1	6.07	0.646	0.17789	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	M	0.92268	3.29	0.80722	D	1	D;P	0.58970	0.984;0.955	P;P	0.60886	0.88;0.756	T	0.77544	-0.2548	10	0.87932	D	0	.	9.7352	0.40384	0.5691:0.0:0.4309:0.0	.	315;315	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	L	315	ENSP00000345512:F315L;ENSP00000257414:F315L;ENSP00000424388:F315L	ENSP00000257414:F315L	F	-	3	2	SEMA6A	115850361	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.935000	0.40173	0.187000	0.20147	0.477000	0.44152	TTT		0.438	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		28	62	0	0	0	1	0	28	62				
CPNE8	144402	broad.mit.edu	37	12	39161529	39161529	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:39161529C>T	ENST00000331366.5	-	8	579	c.483G>A	c.(481-483)ttG>ttA	p.L161L	CPNE8_ENST00000360449.3_Silent_p.L149L	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	161	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AAAATTGCATCAAAACGGCAT	0.328																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(481-483)ttG>ttA		copine VIII							64.0	67.0	66.0					12																	39161529		2203	4297	6500	SO:0001819	synonymous_variant	144402							g.chr12:39161529C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.483G>A	12.37:g.39161529C>T						CPNE8_ENST00000360449.3_Silent_p.L149L	p.L161L	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			8	579	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	161			C2 2.		Q2TB41|Q86VY2	Silent	SNP	ENST00000331366.5	37	c.483G>A	CCDS8733.1																																																																																				0.328	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		19	35	0	0	0	1	0	19	35				
NR2C1	7181	broad.mit.edu	37	12	95461145	95461145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95461145C>A	ENST00000333003.5	-	2	346	c.16G>T	c.(16-18)Gaa>Taa	p.E6*	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Nonsense_Mutation_p.E6*|NR2C1_ENST00000393101.3_Nonsense_Mutation_p.E6*	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	6	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTGCAATTTCTTCTATGGTT	0.313																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(16-18)Gaa>Taa		nuclear receptor subfamily 2, group C, member 1							126.0	113.0	117.0					12																	95461145		2203	4300	6503	SO:0001587	stop_gained	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95461145C>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.16G>T	12.37:g.95461145C>A	ENSP00000333275:p.Glu6*					NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Nonsense_Mutation_p.E6*|NR2C1_ENST00000330677.7_Nonsense_Mutation_p.E6*	p.E6*	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			2	346	-			6			Required for interaction with KAT2B (By similarity).		A8K5K4|Q15625|Q15626	Nonsense_Mutation	SNP	ENST00000333003.5	37	c.16G>T	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	39	7.453865	0.98292	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677;ENST00000547469	.	.	.	5.16	5.16	0.70880	.	0.158697	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8299	0.92133	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000328843:E6X	E	-	1	0	NR2C1	93985276	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.958000	0.63660	2.698000	0.92095	0.561000	0.74099	GAA		0.313	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		14	25	1	0	0.000151284	1	0.00016287	14	25				
CCDC80	151887	broad.mit.edu	37	3	112335658	112335658	+	Silent	SNP	G	G	A	rs141976023		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112335658G>A	ENST00000206423.3	-	5	3173	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	CCDC80_ENST00000439685.2_Silent_p.I740I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	740					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGAAAGTATCGATCAGATCAA	0.388																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(2218-2220)atC>atT		coiled-coil domain containing 80		G	,	0,4406		0,0,2203	170.0	153.0	159.0		2220,2220	-1.4	1.0	3	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous,coding-synonymous	CCDC80	NM_199511.1,NM_199512.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	740/951,740/951	112335658	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112335658G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2220C>T	3.37:g.112335658G>A						CCDC80_ENST00000439685.2_Silent_p.I740I	p.I740I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			5	3173	-			740					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.2220C>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207172	0.22205	0.0	1.16E-4	ENSG00000091986	ENST00000461431	.	.	.	5.68	-1.41	0.08941	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.4767	7.9636	0.30085	0.5003:0.0:0.3967:0.1029	.	.	.	.	X	138	.	.	R	-	1	2	CCDC80	113818348	0.133000	0.22466	0.995000	0.50966	0.994000	0.84299	-0.488000	0.06497	-0.107000	0.12088	0.655000	0.94253	CGA		0.388	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		30	36	0	0	0	1	0	30	36				
NPY4R	5540	broad.mit.edu	37	10	47087310	47087310	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087310C>T	ENST00000395716.1	+	2	612	c.527C>T	c.(526-528)gCc>gTc	p.A176V	NPY4R_ENST00000374312.1_Missense_Mutation_p.A176V			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	176					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCCTTCCTGGCCAACAGCATC	0.572																																						ENST00000374312.1																			0											c.(526-528)gCc>gTc		neuropeptide Y receptor Y4							184.0	147.0	160.0					10																	47087310		2203	4300	6503	SO:0001583	missense	0							g.chr10:47087310C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.527C>T	10.37:g.47087310C>T	ENSP00000379066:p.Ala176Val					NPY4R_ENST00000395716.1_Missense_Mutation_p.A176V	p.A176V	NM_005972.4	NP_005963.3					3	946	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.527C>T	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	c	4.551	0.102290	0.08731	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.70164	-0.46;-0.46	4.92	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.193036	0.46758	N	0.000273	T	0.36248	0.0960	N	0.04275	-0.24	0.36437	D	0.865263	B	0.10296	0.003	B	0.17979	0.02	T	0.36016	-0.9765	10	0.02654	T	1	.	8.829	0.35072	0.0:0.8051:0.0:0.1949	.	176	P50391	NPY4R_HUMAN	V	176	ENSP00000363431:A176V;ENSP00000379066:A176V	ENSP00000363431:A176V	A	+	2	0	PPYR1	46507316	1.000000	0.71417	0.821000	0.32701	0.947000	0.59692	3.048000	0.49862	0.558000	0.29135	0.604000	0.83254	GCC		0.572	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			27	117	0	0	0	1	0	27	117				
PRR25	388199	broad.mit.edu	37	16	855733	855733	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:855733G>A	ENST00000301698.1	+	1	291	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	97										large_intestine(1)|lung(1)|skin(1)	3						CAGGAACAGCGCAGCCGCTCG	0.647																																						ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(289-291)gcG>gcA		proline rich 25							21.0	28.0	26.0					16																	855733		1938	4141	6079	SO:0001819	synonymous_variant	388199							g.chr16:855733G>A	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.291G>A	16.37:g.855733G>A							p.A97A	NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN			1	291	+			97						Silent	SNP	ENST00000301698.1	37	c.291G>A	CCDS45372.1																																																																																				0.647	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		11	22	0	0	0	1	0	11	22				
CMA1	1215	broad.mit.edu	37	14	24975706	24975706	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24975706G>T	ENST00000250378.3	-	3	343	c.314C>A	c.(313-315)tCt>tAt	p.S105Y	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GTGAAGAGTAGAAGTGTTATA	0.433																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(313-315)tCt>tAt		chymase 1, mast cell							340.0	295.0	310.0					14																	24975706		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24975706G>T		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.314C>A	14.37:g.24975706G>T	ENSP00000250378:p.Ser105Tyr					CMA1_ENST00000206446.4_5'UTR|RP11-80A15.1_ENST00000555109.1_Intron	p.S105Y	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	3	343	-			105			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.314C>A	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.430078	0.00184	.	.	ENSG00000092009	ENST00000250378	D	0.89552	-2.53	4.78	-9.57	0.00562	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	4.327840	0.00166	N	0.000010	T	0.76926	0.4056	L	0.42581	1.335	0.09310	N	0.999995	B	0.10296	0.003	B	0.06405	0.002	T	0.66436	-0.5924	10	0.02654	T	1	.	0.9383	0.01350	0.4196:0.1899:0.1099:0.2806	.	105	P23946	CMA1_HUMAN	Y	105	ENSP00000250378:S105Y	ENSP00000250378:S105Y	S	-	2	0	CMA1	24045546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.103000	0.00294	-4.627000	0.00039	-0.169000	0.13324	TCT		0.433	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			44	73	1	0	6.68952e-21	1	9.19686e-21	44	73				
ATP6V0D2	245972	broad.mit.edu	37	8	87155104	87155104	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87155104A>C	ENST00000285393.3	+	5	703		c.e5-1		CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TTTCTTTTTAAGTCTTACCTT	0.303																																						ENST00000285393.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.e5-1		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							116.0	122.0	120.0					8																	87155104		2203	4296	6499	SO:0001630	splice_region_variant	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87155104A>C	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.562-1A>C	8.37:g.87155104A>C						CTD-3118D11.2_ENST00000522679.1_RNA		NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN			5	703	+									Splice_Site	SNP	ENST00000285393.3	37		CCDS6241.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111451	0.77210	.	.	ENSG00000147614	ENST00000285393	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9676	0.71208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V0D2	87224220	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	9.055000	0.93873	2.197000	0.70478	0.533000	0.62120	.		0.303	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	Intron	21	53	0	0	0	1	0	21	53				
NEXN	91624	broad.mit.edu	37	1	78392235	78392235	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78392235G>T	ENST00000334785.7	+	7	810	c.626G>T	c.(625-627)aGa>aTa	p.R209I	NEXN_ENST00000457030.1_Missense_Mutation_p.R195I|NEXN_ENST00000330010.8_Missense_Mutation_p.R145I	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGATAAAAGAATAAGATAT	0.299																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(433-435)aGa>aTa		nexilin (F actin binding protein)							119.0	116.0	117.0					1																	78392235		1823	4084	5907	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78392235G>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.626G>T	1.37:g.78392235G>T	ENSP00000333938:p.Arg209Ile					NEXN_ENST00000457030.1_Missense_Mutation_p.R195I|NEXN_ENST00000334785.7_Missense_Mutation_p.R209I	p.R145I	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	6	731	+			209			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.434G>T	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.992|5.992	0.366918|0.366918	0.11352|0.11352	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	.|T;T;T;T;T	.|0.65364	.|-0.13;0.27;0.17;0.16;-0.15	4.43|4.43	4.43|4.43	0.53597|0.53597	.|.	.|0.120124	.|0.36268	.|N	.|0.002691	.|T	.|0.36580	.|0.0972	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.27853	.|0.164;0.191;0.121;0.121	.|B;B;B;B	.|0.29942	.|0.051;0.109;0.051;0.051	.|T	.|0.44236	.|-0.9341	.|10	.|0.51188	.|T	.|0.08	-16.0265|-16.0265	8.7927|8.7927	0.34861|0.34861	0.1832:0.0:0.8168:0.0|0.1832:0.0:0.8168:0.0	.|.	.|145;195;209;145	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	X|I	109|145;195;145;209;195	.|ENSP00000383814:R145I;ENSP00000388048:R195I;ENSP00000327363:R145I;ENSP00000333938:R209I;ENSP00000411902:R195I	.|ENSP00000327363:R145I	E|R	+|+	1|2	0|0	NEXN|NEXN	78164823|78164823	0.004000|0.004000	0.15560|0.15560	0.965000|0.965000	0.40720|0.40720	0.014000|0.014000	0.08584|0.08584	0.008000|0.008000	0.13197|0.13197	2.392000|2.392000	0.81423|0.81423	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.299	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		10	59	1	0	4.68919e-08	1	5.48405e-08	10	59				
MAEL	84944	broad.mit.edu	37	1	166991017	166991017	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166991017C>A	ENST00000367872.4	+	12	1474	c.1230C>A	c.(1228-1230)ttC>ttA	p.F410L	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.F379L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	410					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCCACAAATTCTCCAACTGTG	0.403																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(1228-1230)ttC>ttA		maelstrom spermatogenic transposon silencer							145.0	142.0	143.0					1																	166991017		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166991017C>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1230C>A	1.37:g.166991017C>A	ENSP00000356846:p.Phe410Leu					MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.F379L	p.F410L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			12	1474	+			410					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1230C>A	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234865	0.39498	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.38722	1.13;1.12	5.04	5.04	0.67666	.	0.226649	0.31772	N	0.007094	T	0.14184	0.0343	N	0.12182	0.205	0.35900	D	0.830347	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.04153	-1.0973	10	0.44086	T	0.13	.	13.7718	0.63029	0.0:1.0:0.0:0.0	.	379;410	E9JVC3;Q96JY0	.;MAEL_HUMAN	L	410;379;132	ENSP00000356846:F410L;ENSP00000356844:F379L	ENSP00000356844:F379L	F	+	3	2	MAEL	165257641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.519000	0.35888	2.614000	0.88457	0.655000	0.94253	TTC		0.403	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		33	47	1	0	4.4194e-11	1	5.4833e-11	33	47				
MUC2	4583	broad.mit.edu	37	11	1095311	1095311	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1095311G>A	ENST00000441003.2	+	32	6158	c.6131G>A	c.(6130-6132)gGc>gAc	p.G2044D	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.G182D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4406					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGACGCCCGGCACCAAGCCC	0.672																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(6130-6132)gGc>gAc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						45.0	61.0	55.0					11																	1095311		2027	4163	6190	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1095311G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6131G>A	11.37:g.1095311G>A	ENSP00000415183:p.Gly2044Asp					MUC2_ENST00000361558.6_Missense_Mutation_p.G182D|MUC2_ENST00000333592.6_3'UTR	p.G2044D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	32	6158	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	2076					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.6131G>A		.	.	.	.	.	.	.	.	.	.	G	3.018	-0.202489	0.06219	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.32515	2.7;1.45	2.64	0.54	0.17163	.	.	.	.	.	T	0.17704	0.0425	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.32161	-0.9917	9	0.11485	T	0.65	.	10.2621	0.43434	0.0:0.4852:0.5148:0.0	.	2044	E7EUV1	.	D	2044;182	ENSP00000415183:G2044D;ENSP00000354885:G182D	ENSP00000354885:G182D	G	+	2	0	MUC2	1085311	0.002000	0.14202	0.007000	0.13788	0.087000	0.18053	0.341000	0.19909	0.133000	0.18654	0.478000	0.44815	GGC		0.672	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		16	30	0	0	0	1	0	16	30				
TMUB2	79089	broad.mit.edu	37	17	42268132	42268132	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42268132G>A	ENST00000587989.1	+	4	1019	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.R269Q|TMUB2_ENST00000446571.3_Missense_Mutation_p.R232Q|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000319511.6_Missense_Mutation_p.R269Q|TMUB2_ENST00000589785.1_Missense_Mutation_p.R269Q|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000538716.2_Missense_Mutation_p.R289Q			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	289						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGTACTTCCGAATCAATTAC	0.547																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(805-807)cGa>cAa		transmembrane and ubiquitin-like domain containing 2							141.0	120.0	127.0					17																	42268132		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42268132G>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.866G>A	17.37:g.42268132G>A	ENSP00000466971:p.Arg289Gln					TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000538716.2_Missense_Mutation_p.R289Q|TMUB2_ENST00000587989.1_Missense_Mutation_p.R289Q|TMUB2_ENST00000446571.3_Missense_Mutation_p.R232Q|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.R269Q|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.R269Q|TMUB2_ENST00000587172.1_3'UTR	p.R269Q	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	1456	+		Breast(137;0.00765)|Prostate(33;0.0181)	289					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.806G>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915837	0.73098	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.50813	0.85;0.77;0.73;0.77	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.965;0.947;0.994	T	0.47674	-0.9099	10	0.16896	T	0.51	-5.9052	19.1347	0.93422	0.0:0.0:1.0:0.0	.	232;269;289	E7ESS3;Q71RG4-2;Q71RG4	.;.;TMUB2_HUMAN	Q	232;269;289;269	ENSP00000413127:R232Q;ENSP00000350672:R269Q;ENSP00000444565:R289Q;ENSP00000313214:R269Q	ENSP00000313214:R269Q	R	+	2	0	TMUB2	39623658	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.660000	0.61511	2.826000	0.97356	0.561000	0.74099	CGA		0.547	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		37	85	0	0	0	1	0	37	85				
NLRP14	338323	broad.mit.edu	37	11	7060094	7060094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7060094G>T	ENST00000299481.4	+	2	623	c.277G>T	c.(277-279)Gaa>Taa	p.E93*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	93	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGAGCGAAAGAAGAGATCAA	0.458																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(277-279)Gaa>Taa		NLR family, pyrin domain containing 14							56.0	60.0	58.0					11																	7060094		2201	4296	6497	SO:0001587	stop_gained	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7060094G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.277G>T	11.37:g.7060094G>T	ENSP00000299481:p.Glu93*						p.E93*	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	623	+			93			DAPIN.		Q7RTR6	Nonsense_Mutation	SNP	ENST00000299481.4	37	c.277G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	37	6.503892	0.97620	.	.	ENSG00000158077	ENST00000299481	.	.	.	4.08	3.13	0.36017	.	0.834737	0.10341	N	0.686289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.0241	0.36218	0.0:0.0:0.7805:0.2195	.	.	.	.	X	93	.	ENSP00000299481:E93X	E	+	1	0	NLRP14	7016670	0.460000	0.25776	0.953000	0.39169	0.734000	0.41952	0.421000	0.21280	1.237000	0.43756	0.655000	0.94253	GAA		0.458	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		5	37	1	0	1	1	1	5	37				
PDE1A	5136	broad.mit.edu	37	2	183070763	183070763	+	Missense_Mutation	SNP	C	C	T	rs552582520		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183070763C>T	ENST00000410103.1	-	9	937	c.854G>A	c.(853-855)cGc>cAc	p.R285H	PDE1A_ENST00000435564.1_Missense_Mutation_p.R285H|PDE1A_ENST00000358139.2_Missense_Mutation_p.R285H|PDE1A_ENST00000346717.4_Missense_Mutation_p.R251H|PDE1A_ENST00000351439.5_Missense_Mutation_p.R269H|PDE1A_ENST00000409365.1_Missense_Mutation_p.R269H|PDE1A_ENST00000456212.1_Missense_Mutation_p.R285H|PDE1A_ENST00000331935.6_Missense_Mutation_p.R285H|PDE1A_ENST00000536095.1_Missense_Mutation_p.R181H	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	285	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AAGGACAGAGCGATCATTATA	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16714	0.0		0.0	False		,,,				2504	0.0					ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(853-855)cGc>cAc		phosphodiesterase 1A, calmodulin-dependent							84.0	78.0	80.0					2																	183070763		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183070763C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.854G>A	2.37:g.183070763C>T	ENSP00000387037:p.Arg285His					PDE1A_ENST00000351439.5_Missense_Mutation_p.R269H|PDE1A_ENST00000346717.4_Missense_Mutation_p.R251H|PDE1A_ENST00000536095.1_Missense_Mutation_p.R181H|PDE1A_ENST00000456212.1_Missense_Mutation_p.R285H|PDE1A_ENST00000410103.1_Missense_Mutation_p.R285H|PDE1A_ENST00000409365.1_Missense_Mutation_p.R269H|PDE1A_ENST00000358139.2_Missense_Mutation_p.R285H|PDE1A_ENST00000331935.6_Missense_Mutation_p.R285H	p.R285H	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		8	1054	-			285			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.854G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600915	0.87055	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	6.02	6.02	0.97574	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89660	0.6779	M	0.78801	2.425	0.80722	D	1	P;P;P;P;P	0.52692	0.955;0.839;0.666;0.746;0.858	P;B;B;B;P	0.54706	0.759;0.347;0.351;0.139;0.531	D	0.89836	0.3999	10	0.66056	D	0.02	.	19.5352	0.95251	0.0:1.0:0.0:0.0	.	181;251;285;269;285	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	H	285;251;181;269;285;269;285;285;285	ENSP00000410309:R285H;ENSP00000329112:R251H;ENSP00000439938:R181H;ENSP00000386767:R269H;ENSP00000331574:R285H;ENSP00000309269:R269H;ENSP00000387037:R285H;ENSP00000350858:R285H;ENSP00000408874:R285H	ENSP00000331574:R285H	R	-	2	0	PDE1A	182779008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.070000	0.71220	2.850000	0.98022	0.650000	0.86243	CGC		0.358	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			14	22	0	0	0	1	0	14	22				
TOMM5	401505	broad.mit.edu	37	9	37588877	37588877	+	3'UTR	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37588877A>G	ENST00000321301.6	-	0	283				RP11-613M10.9_ENST00000540557.1_3'UTR|TOMM5_ENST00000401811.3_Nonstop_Mutation_p.*99R|TOMM5_ENST00000377773.5_3'UTR|TOMM5_ENST00000544379.1_3'UTR|FBXO10_ENST00000541829.1_5'Flank|RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'Flank	NM_001001790.2	NP_001001790.1	Q8N4H5	TOM5_HUMAN	translocase of outer mitochondrial membrane 5 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)											TCGTGCATTCATATGTGATGT	0.363																																						ENST00000401811.3																			0											c.(295-297)Tga>Cga		translocase of outer mitochondrial membrane 5 homolog (yeast)							71.0	68.0	69.0					9																	37588877		1841	4104	5945	SO:0001624	3_prime_UTR_variant	401505					integral to membrane|mitochondrial outer membrane translocase complex		g.chr9:37588877A>G	BC029423	CCDS43803.1, CCDS47967.1, CCDS47968.1	9p13.2	2008-08-21	2008-08-21	2008-08-21	ENSG00000175768	ENSG00000175768			31369	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 105"""	C9orf105		18331822	Standard	NM_001001790		Approved	bA613M10.3	uc011lql.2	Q8N4H5	OTTHUMG00000019923	ENST00000321301.6:c.*18T>C	9.37:g.37588877A>G						TOMM5_ENST00000544379.1_3'UTR|RP11-613M10.8_ENST00000537239.2_3'UTR|TOMM5_ENST00000321301.6_3'UTR|TOMM5_ENST00000377773.5_3'UTR|RP11-613M10.9_ENST00000540557.1_3'UTR	p.*99R			Q8N4H5	TOM5_HUMAN			2	366	-			0					B2DG07|F6S928|Q5JRT7	Nonstop_Mutation	SNP	ENST00000321301.6	37	c.295T>C	CCDS43803.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.727510	0.00694	.	.	ENSG00000175768	ENST00000401811	.	.	.	5.14	-0.101	0.13618	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5793	0.07946	0.577:0.0:0.2655:0.1575	.	.	.	.	R	99	.	.	X	-	1	0	TOMM5	37578877	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.125000	0.15749	-0.088000	0.12506	0.454000	0.30748	TGA		0.363	TOMM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052468.2			8	21	0	0	0	1	0	8	21				
PTPRR	5801	broad.mit.edu	37	12	71155283	71155283	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71155283A>G	ENST00000283228.2	-	4	1047	c.595T>C	c.(595-597)Tcc>Ccc	p.S199P	PTPRR_ENST00000342084.4_Missense_Mutation_p.S87P	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	199					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCAAACTGGGATAAACTTTGA	0.383																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(595-597)Tcc>Ccc		protein tyrosine phosphatase, receptor type, R							142.0	143.0	143.0					12																	71155283		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71155283A>G	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.595T>C	12.37:g.71155283A>G	ENSP00000283228:p.Ser199Pro					PTPRR_ENST00000342084.4_Missense_Mutation_p.S87P	p.S199P	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	4	1047	-			199					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.595T>C	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039866	0.35989	.	.	ENSG00000153233	ENST00000283228;ENST00000342084	T;T	0.35048	1.33;1.33	5.68	3.3	0.37823	.	0.279055	0.25561	N	0.029827	T	0.20455	0.0492	N	0.17082	0.46	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.04320	-1.0960	10	0.41790	T	0.15	-4.2381	6.9937	0.24769	0.7941:0.0:0.0729:0.133	.	87;199	F5GXR7;Q15256	.;PTPRR_HUMAN	P	199;87	ENSP00000283228:S199P;ENSP00000339605:S87P	ENSP00000283228:S199P	S	-	1	0	PTPRR	69441550	1.000000	0.71417	0.962000	0.40283	0.960000	0.62799	3.499000	0.53310	0.419000	0.25927	0.368000	0.22195	TCC		0.383	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		20	68	0	0	0	1	0	20	68				
ZNF655	79027	broad.mit.edu	37	7	99169914	99169914	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99169914A>G	ENST00000394163.2	+	3	366	c.183A>G	c.(181-183)aaA>aaG	p.K61K	ZNF655_ENST00000425063.1_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_Silent_p.K96K|ZNF655_ENST00000493277.1_Silent_p.K96K|ZNF655_ENST00000252713.4_Silent_p.K61K|ZNF655_ENST00000419215.2_3'UTR	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	61					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CTAAGCAGAAAATTTCGGAAG	0.383																																						ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(286-288)aaA>aaG		zinc finger protein 655							85.0	88.0	87.0					7																	99169914		2203	4300	6503	SO:0001819	synonymous_variant	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99169914A>G	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.183A>G	7.37:g.99169914A>G						ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Silent_p.K61K|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Silent_p.K61K|ZNF655_ENST00000493277.1_Silent_p.K96K	p.K96K	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	508	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		61					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Silent	SNP	ENST00000394163.2	37	c.288A>G	CCDS5669.1																																																																																				0.383	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		18	48	0	0	0	1	0	18	48				
MEIS2	4212	broad.mit.edu	37	15	37387806	37387806	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:37387806C>T	ENST00000561208.1	-	4	815	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	MEIS2_ENST00000340545.5_Missense_Mutation_p.E120K|MEIS2_ENST00000338564.5_Missense_Mutation_p.E133K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E45K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E133K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E133K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E120K|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000397620.2_Missense_Mutation_p.E45K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E120K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E133K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E133K			O14770	MEIS2_HUMAN	Meis homeobox 2	133	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AGTGGCTTTTCGGCGCGAACC	0.478																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(397-399)Gaa>Aaa		Meis homeobox 2							102.0	96.0	98.0					15																	37387806		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37387806C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.397G>A	15.37:g.37387806C>T	ENSP00000453793:p.Glu133Lys					MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.E133K|MEIS2_ENST00000561208.1_Missense_Mutation_p.E133K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E133K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E120K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E120K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E133K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E133K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E45K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E45K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E120K	p.E133K	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	5	843	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	133					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.397G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	37	6.071977	0.97256	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620	T;T;T;T;T;T;T	0.34072	1.53;1.38;1.38;1.53;1.53;1.53;1.53	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.99;0.999;0.99;0.977;0.986;0.999;0.992	P;P;P;P;P;D;P	0.79784	0.664;0.894;0.727;0.766;0.562;0.993;0.812	T	0.65319	-0.6197	10	0.59425	D	0.04	-2.2067	19.3563	0.94416	0.0:1.0:0.0:0.0	.	120;133;133;133;133;45;120	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.	K	133;133;133;133;133;120;120;45	ENSP00000326296:E133K;ENSP00000341400:E133K;ENSP00000372216:E133K;ENSP00000404185:E133K;ENSP00000391887:E133K;ENSP00000339549:E120K;ENSP00000380745:E45K	ENSP00000326296:E133K	E	-	1	0	MEIS2	35175098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.766000	0.85320	2.669000	0.90835	0.655000	0.94253	GAA		0.478	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		16	36	0	0	0	1	0	16	36				
TUBA3C	7278	broad.mit.edu	37	13	19751395	19751395	+	Missense_Mutation	SNP	C	C	T	rs201024969		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19751395C>T	ENST00000400113.3	-	4	832	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	243					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R243Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCCGTCAAATCGCAGGGAGGC	0.597																																						ENST00000400113.3																			1	Substitution - Missense(1)	p.R243Q(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(727-729)cGa>cAa		tubulin, alpha 3c		C	GLN/ARG	0,4406		0,0,2203	157.0	137.0	144.0		728	-1.0	0.7	13		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUBA3C	NM_006001.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	243/451	19751395	1,13005	2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751395C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.728G>A	13.37:g.19751395C>T	ENSP00000382982:p.Arg243Gln						p.R243Q	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	832	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	243					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.728G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	8.711	0.911976	0.17907	0.0	1.16E-4	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.74209	-0.82	1.19	-1.02	0.10135	.	0.000000	0.45606	U	0.000346	T	0.68284	0.2984	.	.	.	0.30264	N	0.792877	.	.	.	.	.	.	T	0.65236	-0.6217	7	0.72032	D	0.01	.	3.9351	0.09302	0.0:0.568:0.2469:0.1851	.	.	.	.	Q	243	ENSP00000382982:R243Q	ENSP00000354037:R243Q	R	-	2	0	TUBA3C	18649395	0.027000	0.19231	0.729000	0.30791	0.094000	0.18550	2.853000	0.48317	-0.368000	0.08040	0.175000	0.17021	CGA		0.597	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		74	125	0	0	0	1	0	74	125				
DSE	29940	broad.mit.edu	37	6	116758182	116758182	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:116758182G>T	ENST00000331677.3	+	7	2995	c.2551G>T	c.(2551-2553)Gat>Tat	p.D851Y	DSE_ENST00000537543.1_Missense_Mutation_p.D870Y|DSE_ENST00000359564.2_Missense_Mutation_p.D851Y|DSE_ENST00000452085.3_Missense_Mutation_p.D851Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	851					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACTACCCATAGATGAAGATGA	0.383																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2551-2553)Gat>Tat		dermatan sulfate epimerase							85.0	90.0	88.0					6																	116758182		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116758182G>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2551G>T	6.37:g.116758182G>T	ENSP00000332151:p.Asp851Tyr					DSE_ENST00000537543.1_Missense_Mutation_p.D870Y|DSE_ENST00000359564.2_Missense_Mutation_p.D851Y|DSE_ENST00000452085.3_Missense_Mutation_p.D851Y	p.D851Y			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	2995	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	851					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2551G>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291072	0.59976	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	6.16	6.16	0.99307	.	0.045910	0.85682	D	0.000000	T	0.56202	0.1969	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.58620	0.983;0.965	P;P	0.58873	0.847;0.748	T	0.62469	-0.6848	10	0.87932	D	0	-22.5682	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	870;851	B7Z765;Q9UL01	.;DSE_HUMAN	Y	851;870;851;851	ENSP00000404049:D851Y;ENSP00000441152:D870Y;ENSP00000332151:D851Y;ENSP00000352567:D851Y	ENSP00000332151:D851Y	D	+	1	0	DSE	116864875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.479000	0.73600	2.937000	0.99478	0.650000	0.86243	GAT		0.383	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		18	40	1	0	2.48551e-13	1	3.17925e-13	18	40				
ICAM4	3386	broad.mit.edu	37	19	10398049	10398049	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10398049A>G	ENST00000380770.3	+	1	407	c.361A>G	c.(361-363)Aca>Gca	p.T121A	ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000340992.4_Missense_Mutation_p.T121A|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_Missense_Mutation_p.T121A	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	121	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCAGGAAAAACACGCTGGGC	0.672																																						ENST00000393717.2																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(361-363)Aca>Gca		intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)							16.0	17.0	16.0					19																	10398049		2202	4300	6502	SO:0001583	missense	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398049A>G	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.361A>G	19.37:g.10398049A>G	ENSP00000370147:p.Thr121Ala					CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Missense_Mutation_p.T121A|ICAM4_ENST00000340992.4_Missense_Mutation_p.T121A	p.T121A	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		1	370	+			121			Ig-like C2-type 1.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	c.361A>G	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.530614	0.27387	.	.	ENSG00000105371	ENST00000340992;ENST00000380770;ENST00000393717	T;T;T	0.13307	2.6;2.6;2.6	4.27	2.15	0.27550	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.500583	0.17788	N	0.161977	T	0.25644	0.0624	M	0.72118	2.19	0.09310	N	1	D;D;D	0.63046	0.99;0.992;0.966	P;P;P	0.61328	0.819;0.887;0.848	T	0.08249	-1.0731	10	0.35671	T	0.21	-3.2503	4.4347	0.11545	0.6959:0.1988:0.1053:0.0	.	121;121;121	Q14773-2;Q14773;Q9BWR0	.;ICAM4_HUMAN;.	A	121	ENSP00000342114:T121A;ENSP00000370147:T121A;ENSP00000377320:T121A	ENSP00000342114:T121A	T	+	1	0	ICAM4	10259049	0.702000	0.27816	0.002000	0.10522	0.011000	0.07611	2.551000	0.45820	0.195000	0.20347	-0.441000	0.05720	ACA		0.672	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		12	8	0	0	0	1	0	12	8				
ST6GALNAC5	81849	broad.mit.edu	37	1	77509986	77509986	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77509986T>C	ENST00000477717.1	+	3	594	c.359T>C	c.(358-360)gTc>gCc	p.V120A		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	120					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						ACAGAGTGTGTCATCCGCATG	0.612																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(358-360)gTc>gCc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							64.0	58.0	60.0					1																	77509986		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77509986T>C		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.359T>C	1.37:g.77509986T>C	ENSP00000417583:p.Val120Ala						p.V120A	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			3	594	+			120					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.359T>C	CCDS673.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818779	0.90873	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.60672	0.17	5.63	5.63	0.86233	.	0.053251	0.85682	D	0.000000	T	0.80879	0.4708	H	0.95884	3.735	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	D	0.87370	0.2350	10	0.87932	D	0	-24.8361	15.8388	0.78824	0.0:0.0:0.0:1.0	.	120	Q9BVH7	SIA7E_HUMAN	A	120;30	ENSP00000417583:V120A	ENSP00000436263:V120A	V	+	2	0	ST6GALNAC5	77282574	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.581000	0.82535	2.137000	0.66172	0.482000	0.46254	GTC		0.612	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		4	57	0	0	0	1	0	4	57				
HORMAD1	84072	broad.mit.edu	37	1	150672634	150672634	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150672634G>T	ENST00000361824.2	-	14	1163	c.1058C>A	c.(1057-1059)tCt>tAt	p.S353Y	HORMAD1_ENST00000322343.7_Missense_Mutation_p.S346Y|HORMAD1_ENST00000368993.2_Missense_Mutation_p.S353Y|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S273Y|RNU6-1042P_ENST00000384204.1_RNA	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	353					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTTTGGAAGATTTTACTGG	0.323																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(1057-1059)tCt>tAt		HORMA domain containing 1							151.0	137.0	141.0					1																	150672634		2201	4299	6500	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150672634G>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1058C>A	1.37:g.150672634G>T	ENSP00000355167:p.Ser353Tyr					HORMAD1_ENST00000322343.7_Missense_Mutation_p.S346Y|HORMAD1_ENST00000361824.2_Missense_Mutation_p.S353Y|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S273Y	p.S353Y			Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		14	1163	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		353					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.1058C>A	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954935	0.34471	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.45276	0.9;1.55;1.49;1.55	4.77	1.67	0.24075	.	1.540610	0.03536	N	0.223213	T	0.10937	0.0267	N	0.19112	0.55	0.21802	N	0.99953	P;P;B	0.41569	0.755;0.547;0.412	B;B;B	0.37888	0.26;0.173;0.084	T	0.07271	-1.0781	10	0.27785	T	0.31	-1.7553	5.3487	0.16024	0.1916:0.1669:0.6416:0.0	.	273;346;353	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	Y	273;353;282;273;346;353	ENSP00000357991:S273Y;ENSP00000357989:S353Y;ENSP00000326489:S346Y;ENSP00000355167:S353Y	ENSP00000326489:S346Y	S	-	2	0	HORMAD1	148939258	0.995000	0.38212	0.998000	0.56505	0.910000	0.53928	0.942000	0.29017	0.565000	0.29255	0.460000	0.39030	TCT		0.323	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		12	23	1	0	0.105934	1	0.10725	12	23				
MAML2	84441	broad.mit.edu	37	11	95826576	95826576	+	Missense_Mutation	SNP	G	G	A	rs375950360		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:95826576G>A	ENST00000524717.1	-	2	1903	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	207					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCCCCAACACGAATTCTTTTG	0.458			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(619-621)Cgt>Tgt		mastermind-like 2 (Drosophila)		G	CYS/ARG	0,3746		0,0,1873	111.0	106.0	108.0		619	2.4	0.7	11		108	1,8243		0,1,4121	no	missense	MAML2	NM_032427.1	180	0,1,5994	AA,AG,GG		0.0121,0.0,0.0083	benign	207/1157	95826576	1,11989	1873	4122	5995	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95826576G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.619C>T	11.37:g.95826576G>A	ENSP00000434552:p.Arg207Cys						p.R207C	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			2	1903	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	207					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.619C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385392	0.11524	0.0	1.21E-4	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.55760	0.5;0.5	5.32	2.36	0.29203	.	0.226096	0.29218	N	0.012781	T	0.38241	0.1033	L	0.42245	1.32	0.35103	D	0.765385	B	0.26809	0.16	B	0.13407	0.009	T	0.37596	-0.9699	10	0.56958	D	0.05	-0.7583	5.7111	0.17935	0.1517:0.0:0.4419:0.4063	.	207	Q8IZL2	MAML2_HUMAN	C	207	ENSP00000434552:R207C;ENSP00000412394:R207C	ENSP00000412394:R207C	R	-	1	0	MAML2	95466224	1.000000	0.71417	0.658000	0.29665	0.008000	0.06430	2.779000	0.47734	0.210000	0.20664	0.557000	0.71058	CGT		0.458	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			26	57	0	0	0	1	0	26	57				
IGSF9B	22997	broad.mit.edu	37	11	133790722	133790722	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:133790722A>C	ENST00000321016.8	-	18	3128	c.2898T>G	c.(2896-2898)taT>taG	p.Y966*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y966*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	966	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTACCCATAATACTGGCCAT	0.721																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2896-2898)taT>taG		immunoglobulin superfamily, member 9B							11.0	14.0	13.0					11																	133790722		1873	4001	5874	SO:0001587	stop_gained	22997					integral to membrane|plasma membrane		g.chr11:133790722A>C	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2898T>G	11.37:g.133790722A>C	ENSP00000317980:p.Tyr966*					IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y966*	p.Y966*			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3128	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	966			Pro-rich.		G5EA26	Nonsense_Mutation	SNP	ENST00000321016.8	37	c.2898T>G		.	.	.	.	.	.	.	.	.	.	A	39	7.727500	0.98456	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	.	.	.	4.2	1.82	0.25136	.	0.000000	0.38111	N	0.001820	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9888	0.14203	0.6441:0.1607:0.1952:0.0	.	.	.	.	X	966;808	.	ENSP00000317980:Y966X	Y	-	3	2	IGSF9B	133295932	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.306000	0.33505	0.670000	0.31165	0.459000	0.35465	TAT		0.721	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		11	27	0	0	0	1	0	11	27				
DKK1	22943	broad.mit.edu	37	10	54076093	54076093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:54076093G>T	ENST00000373970.3	+	3	584	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	PRKG1-AS1_ENST00000420193.1_RNA|DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	149					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TTTCCGAGGAGAAATTGAGGA	0.393																																						ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(445-447)Gaa>Taa		dickkopf WNT signaling pathway inhibitor 1							95.0	88.0	90.0					10																	54076093		2203	4300	6503	SO:0001587	stop_gained	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076093G>T		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.445G>T	10.37:g.54076093G>T	ENSP00000363081:p.Glu149*					DKK1_ENST00000467359.1_3'UTR	p.E149*	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			3	584	+			149					B2RC19	Nonsense_Mutation	SNP	ENST00000373970.3	37	c.445G>T	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445400	0.84101	.	.	ENSG00000107984	ENST00000373970	.	.	.	5.82	5.82	0.92795	.	0.250041	0.38326	N	0.001728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-15.8052	12.523	0.56072	0.0:0.0:0.8335:0.1665	.	.	.	.	X	149	.	ENSP00000363081:E149X	E	+	1	0	DKK1	53746099	1.000000	0.71417	0.990000	0.47175	0.584000	0.36387	2.590000	0.46154	2.756000	0.94617	0.561000	0.74099	GAA		0.393	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			15	21	1	0	1.15088e-07	1	1.32965e-07	15	21				
DNAH2	146754	broad.mit.edu	37	17	7678157	7678157	+	Nonsense_Mutation	SNP	C	C	T	rs576626688		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7678157C>T	ENST00000572933.1	+	29	6042	c.4582C>T	c.(4582-4584)Cga>Tga	p.R1528*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R1528*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1528	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAGACCAAGCGACATATTTT	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19279	0.0		0.0	False		,,,				2504	0.0					ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(4582-4584)Cga>Tga		dynein, axonemal, heavy chain 2							103.0	97.0	99.0					17																	7678157		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7678157C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4582C>T	17.37:g.7678157C>T	ENSP00000458355:p.Arg1528*					DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R1528*	p.R1528*			Q9P225	DYH2_HUMAN			29	6042	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1528			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.4582C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	44	11.081605	0.99513	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.44	5.44	0.79542	.	0.056616	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0492	0.89342	0.0:1.0:0.0:0.0	.	.	.	.	X	1528	.	ENSP00000353818:R1528X	R	+	1	2	DNAH2	7618882	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.710000	0.37920	2.565000	0.86533	0.637000	0.83480	CGA		0.463	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		6	59	0	0	0	1	0	6	59				
FKRP	79147	broad.mit.edu	37	19	47258711	47258711	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47258711C>T	ENST00000318584.5	+	4	301	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R2W	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	2					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGGCCCCATGCGGCTCACCCG	0.657																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(4-6)Cgg>Tgg		fukutin related protein							9.0	10.0	10.0					19																	47258711		2155	4212	6367	SO:0001583	missense	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47258711C>T	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.4C>T	19.37:g.47258711C>T	ENSP00000326570:p.Arg2Trp					FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R2W	p.R2W	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	301	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	2					A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.4C>T	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384746	0.82792	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99685	-6.4;-6.4	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.97994	1.0356	10	0.87932	D	0	-26.389	15.1802	0.72952	0.0:1.0:0.0:0.0	.	2	Q9H9S5	FKRP_HUMAN	W	2	ENSP00000375776:R2W;ENSP00000326570:R2W	ENSP00000326570:R2W	R	+	1	2	FKRP	51950551	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.193000	0.50997	2.580000	0.87095	0.555000	0.69702	CGG		0.657	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		8	16	0	0	0	1	0	8	16				
MAP3K4	4216	broad.mit.edu	37	6	161470911	161470911	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161470911A>C	ENST00000392142.4	+	3	1755	c.1607A>C	c.(1606-1608)cAg>cCg	p.Q536P	MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q536P|MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q536P|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q536P	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	536					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCACTGAAGCAGATGGGGTTA	0.438																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(1606-1608)cAg>cCg		mitogen-activated protein kinase kinase kinase 4							79.0	84.0	82.0					6																	161470911		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470911A>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1607A>C	6.37:g.161470911A>C	ENSP00000375986:p.Gln536Pro					MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q536P|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q536P|MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q536P	p.Q536P	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1755	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	536					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.1607A>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564564	0.65651	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.993	T	0.03524	-1.1028	10	0.25106	T	0.35	-28.5564	15.774	0.78193	1.0:0.0:0.0:0.0	.	536;536	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	P	536	ENSP00000355886:Q536P;ENSP00000375986:Q536P;ENSP00000355887:Q536P;ENSP00000297332:Q536P	ENSP00000297332:Q536P	Q	+	2	0	MAP3K4	161390901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.930000	0.92872	2.124000	0.65301	0.533000	0.62120	CAG		0.438	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			11	56	0	0	0	1	0	11	56				
DDX60	55601	broad.mit.edu	37	4	169201497	169201497	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169201497C>T	ENST00000393743.3	-	14	2258	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	656					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.R656Q(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCTTCACTTCGGCAATGTTC	0.363																																						ENST00000393743.3																			2	Substitution - Missense(2)	p.R656Q(2)	large_intestine(2)	breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1966-1968)cGa>cAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							84.0	78.0	80.0					4																	169201497		2202	4300	6502	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169201497C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1967G>A	4.37:g.169201497C>T	ENSP00000377344:p.Arg656Gln						p.R656Q	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	14	2258	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	656					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.1967G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	9.759	1.169466	0.21621	.	.	ENSG00000137628	ENST00000393743	T	0.18338	2.22	5.48	-8.31	0.01001	.	1.565850	0.03683	N	0.245871	T	0.08223	0.0205	N	0.04355	-0.22	0.09310	N	1	B	0.22346	0.068	B	0.12156	0.007	T	0.21484	-1.0244	10	0.36615	T	0.2	.	14.5318	0.67931	0.1068:0.751:0.0:0.1422	.	656	Q8IY21	DDX60_HUMAN	Q	656	ENSP00000377344:R656Q	ENSP00000377344:R656Q	R	-	2	0	DDX60	169438072	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.504000	0.00449	-1.654000	0.01499	0.563000	0.77884	CGA		0.363	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		24	49	0	0	0	1	0	24	49				
MGAT5	4249	broad.mit.edu	37	2	135099273	135099273	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135099273C>A	ENST00000409645.1	+	8	1172	c.920C>A	c.(919-921)tCt>tAt	p.S307Y	MGAT5_ENST00000281923.2_Missense_Mutation_p.S307Y			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	307					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTAATTACATCTCTGTACTTA	0.398																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(919-921)tCt>tAt		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							116.0	108.0	111.0					2																	135099273		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135099273C>A	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.920C>A	2.37:g.135099273C>A	ENSP00000386377:p.Ser307Tyr					MGAT5_ENST00000281923.2_Missense_Mutation_p.S307Y	p.S307Y			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	8	1172	+			307					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.920C>A	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241996	0.79912	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.45	5.45	0.79879	.	0.052641	0.85682	D	0.000000	T	0.64427	0.2597	L	0.58101	1.795	0.80722	D	1	D	0.54207	0.965	P	0.48141	0.568	T	0.69146	-0.5222	9	0.87932	D	0	-16.9167	19.2882	0.94087	0.0:1.0:0.0:0.0	.	307	Q09328	MGT5A_HUMAN	Y	307	.	ENSP00000281923:S307Y	S	+	2	0	MGAT5	134815743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.810000	0.86072	2.556000	0.86216	0.313000	0.20887	TCT		0.398	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		6	35	1	0	8.12818e-05	1	8.79784e-05	6	35				
PLCH1	23007	broad.mit.edu	37	3	155199563	155199563	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155199563C>A	ENST00000340059.7	-	23	4275	c.4276G>T	c.(4276-4278)Gat>Tat	p.D1426Y	PLCH1_ENST00000334686.6_Missense_Mutation_p.D1388Y|PLCH1_ENST00000460012.1_Missense_Mutation_p.D1388Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1388Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1426					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTTTGACATCTTGAATATTG	0.408																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4162-4164)Gat>Tat		phospholipase C, eta 1							92.0	93.0	93.0					3																	155199563		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199563C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4276G>T	3.37:g.155199563C>A	ENSP00000345988:p.Asp1426Tyr					PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1388Y|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1426Y|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1388Y	p.D1388Y			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4519	-			1426					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4162G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751562	0.31046	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.77	1.32	0.21799	.	1.553680	0.03821	N	0.267452	T	0.66713	0.2817	N	0.24115	0.695	0.09310	N	1	P;P	0.41569	0.755;0.641	B;B	0.41813	0.367;0.202	T	0.58504	-0.7625	10	0.59425	D	0.04	.	3.2905	0.06947	0.189:0.4388:0.0:0.3722	.	1388;1426	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	Y	1388;1426;1388;1388	ENSP00000417502:D1388Y;ENSP00000345988:D1426Y;ENSP00000335469:D1388Y;ENSP00000412977:D1388Y	ENSP00000335469:D1388Y	D	-	1	0	PLCH1	156682257	0.000000	0.05858	0.012000	0.15200	0.981000	0.71138	0.010000	0.13242	0.390000	0.25115	0.585000	0.79938	GAT		0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		27	51	1	0	1.04121e-07	1	1.21041e-07	27	51				
FANCM	57697	broad.mit.edu	37	14	45624629	45624629	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45624629G>A	ENST00000267430.5	+	8	1448	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	FANCM_ENST00000542564.2_Missense_Mutation_p.E429K|FANCM_ENST00000556036.1_Missense_Mutation_p.E455K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	455	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAATTAGAAGAAGTTGTAAT	0.274								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1363-1365)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							65.0	68.0	67.0					14																	45624629		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45624629G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1363G>A	14.37:g.45624629G>A	ENSP00000267430:p.Glu455Lys					FANCM_ENST00000556036.1_Missense_Mutation_p.E455K|FANCM_ENST00000542564.2_Missense_Mutation_p.E429K	p.E455K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			8	1448	+			455			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1363G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883189	0.91740	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.05382	3.45;3.45;3.45;3.45	5.56	5.56	0.83823	Helicase, C-terminal (1);	0.109084	0.64402	D	0.000009	T	0.14787	0.0357	M	0.74647	2.275	0.51233	D	0.999918	P;B;P	0.41524	0.573;0.402;0.753	B;B;B	0.42245	0.253;0.341;0.381	T	0.00583	-1.1659	10	0.52906	T	0.07	.	19.1315	0.93410	0.0:0.0:1.0:0.0	.	429;455;455	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	K	455;455;429;40	ENSP00000450596:E455K;ENSP00000267430:E455K;ENSP00000442493:E429K;ENSP00000452033:E40K	ENSP00000267430:E455K	E	+	1	0	FANCM	44694379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.626000	0.83164	2.614000	0.88457	0.563000	0.77884	GAA		0.274	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		15	17	0	0	0	1	0	15	17				
ATP6V1C1	528	broad.mit.edu	37	8	104065041	104065041	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:104065041G>A	ENST00000395862.3	+	6	623	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.R80Q|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.R80Q|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.R155Q	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	155					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AATTTGGAACGAAAGAATGCG	0.368																																						ENST00000395862.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(463-465)cGa>cAa		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1							83.0	86.0	85.0					8																	104065041		2203	4299	6502	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104065041G>A	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.464G>A	8.37:g.104065041G>A	ENSP00000379203:p.Arg155Gln					ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.R155Q|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.R80Q|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.R80Q	p.R155Q	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		6	623	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		155						Missense_Mutation	SNP	ENST00000395862.3	37	c.464G>A	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573641	0.96553	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.87	5.87	0.94306	.	0.095626	0.64402	D	0.000001	T	0.74928	0.3781	H	0.94964	3.605	0.80722	D	1	D	0.54397	0.966	P	0.49953	0.627	T	0.82382	-0.0485	10	0.72032	D	0.01	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	155	P21283	VATC1_HUMAN	Q	80;155;80;155	ENSP00000428204:R80Q;ENSP00000379203:R155Q;ENSP00000430129:R80Q;ENSP00000430282:R155Q	ENSP00000379203:R155Q	R	+	2	0	ATP6V1C1	104134217	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.359000	0.97115	2.804000	0.96469	0.650000	0.86243	CGA		0.368	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		17	33	0	0	0	1	0	17	33				
MBNL1	4154	broad.mit.edu	37	3	152174096	152174096	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:152174096A>G	ENST00000463374.1	+	7	1567	c.1056A>G	c.(1054-1056)gcA>gcG	p.A352A	MBNL1_ENST00000485910.1_Silent_p.A266A|MBNL1_ENST00000545754.1_Silent_p.A278A|MBNL1_ENST00000324196.5_Missense_Mutation_p.Q283R|MBNL1_ENST00000324210.5_Silent_p.A346A|RP11-362A9.3_ENST00000463255.1_RNA|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000355460.2_Silent_p.A334A|MBNL1_ENST00000282486.6_Silent_p.A352A|MBNL1_ENST00000485509.1_Missense_Mutation_p.Q283R|MBNL1_ENST00000493459.1_Silent_p.A307A|MBNL1_ENST00000282488.7_Silent_p.A266A|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000492948.1_Intron	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	352					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGTGTCCGCAGCAACAACAT	0.458																																						ENST00000324196.5																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(847-849)cAg>cGg		muscleblind-like splicing regulator 1							224.0	231.0	229.0					3																	152174096		2203	4300	6503	SO:0001819	synonymous_variant	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152174096A>G	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.1056A>G	3.37:g.152174096A>G						MBNL1_ENST00000324210.5_Silent_p.A346A|MBNL1_ENST00000282488.7_Silent_p.A266A|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000463374.1_Silent_p.A352A|MBNL1_ENST00000545754.1_Silent_p.A278A|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000485910.1_Silent_p.A266A|MBNL1_ENST00000493459.1_Silent_p.A307A|MBNL1_ENST00000282486.6_Silent_p.A352A|MBNL1_ENST00000355460.2_Silent_p.A334A|MBNL1_ENST00000485509.1_Missense_Mutation_p.Q283R|MBNL1_ENST00000498502.1_Intron	p.Q283R	NM_207296.1	NP_997179.1	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1637	+			291					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.848A>G	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	A	7.399	0.632337	0.14322	.	.	ENSG00000152601	ENST00000324196;ENST00000485509	T;T	0.37915	1.17;1.17	5.37	0.985	0.19779	.	.	.	.	.	T	0.24005	0.0581	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06899	-1.0801	8	0.49607	T	0.09	.	4.9116	0.13825	0.6946:0.1128:0.0699:0.1227	.	283	E9PBW7	.	R	283	ENSP00000319374:Q283R;ENSP00000418876:Q283R	ENSP00000319374:Q283R	Q	+	2	0	MBNL1	153656786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	0.319000	0.23209	0.460000	0.39030	CAG		0.458	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		86	151	0	0	0	1	0	86	151				
SLC12A1	6557	broad.mit.edu	37	15	48580301	48580301	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48580301A>C	ENST00000558405.1	+	21	2705	c.2691A>C	c.(2689-2691)gaA>gaC	p.E897D	SLC12A1_ENST00000396577.3_Missense_Mutation_p.E897D|SLC12A1_ENST00000380993.3_Missense_Mutation_p.E897D			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	897					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AACTGGTGGAAGCCAGCACTC	0.403																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(2689-2691)gaA>gaC		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						69.0	65.0	66.0					15																	48580301		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48580301A>C		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2691A>C	15.37:g.48580301A>C	ENSP00000453409:p.Glu897Asp					SLC12A1_ENST00000380993.3_Missense_Mutation_p.E897D|SLC12A1_ENST00000558405.1_Missense_Mutation_p.E897D	p.E897D	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	22	2906	+		all_lung(180;0.00219)	897					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2691A>C	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177295	0.38413	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.83250	-1.7;-1.7	5.87	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	N	0.16833	0.445	0.49687	D	0.99981	B;B	0.23591	0.088;0.02	B;B	0.21708	0.036;0.02	T	0.57763	-0.7755	10	0.30078	T	0.28	.	9.309	0.37891	0.7977:0.0:0.2023:0.0	.	897;897	E9PDW4;Q13621	.;S12A1_HUMAN	D	897	ENSP00000370381:E897D;ENSP00000379822:E897D	ENSP00000370381:E897D	E	+	3	2	SLC12A1	46367593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.588000	0.36633	0.576000	0.29452	0.533000	0.62120	GAA		0.403	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			6	9	0	0	0	1	0	6	9				
LRIG3	121227	broad.mit.edu	37	12	59274382	59274382	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:59274382T>G	ENST00000320743.3	-	13	2068	c.1782A>C	c.(1780-1782)aaA>aaC	p.K594N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K534N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	594	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TAAGCTTGGCTTTGACAGAGT	0.393			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1780-1782)aaA>aaC		leucine-rich repeats and immunoglobulin-like domains 3							60.0	56.0	57.0					12																	59274382		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59274382T>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1782A>C	12.37:g.59274382T>G	ENSP00000326759:p.Lys594Asn					LRIG3_ENST00000379141.4_Missense_Mutation_p.K534N	p.K594N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	2068	-			594			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1782A>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606107	0.66445	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.69040	-0.37;-0.37	6.04	2.31	0.28768	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39341	N	0.001399	T	0.72700	0.3493	L	0.45470	1.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.68708	-0.5337	9	.	.	.	.	10.133	0.42691	0.0:0.1753:0.0:0.8247	.	534;594	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	N	534;594	ENSP00000368436:K534N;ENSP00000326759:K594N	.	K	-	3	2	LRIG3	57560649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.171000	0.42453	0.521000	0.28445	0.459000	0.35465	AAA		0.393	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		5	41	0	0	0	1	0	5	41				
LARS2	23395	broad.mit.edu	37	3	45537860	45537860	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45537860A>G	ENST00000415258.1	+	13	1758	c.1617A>G	c.(1615-1617)ccA>ccG	p.P539P	LARS2_ENST00000265537.3_Silent_p.P539P|LARS2_ENST00000414984.1_Silent_p.P496P|LARS2-AS1_ENST00000442534.2_RNA			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	539					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTCATAATCCACACAGGTAAA	0.448																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1615-1617)ccA>ccG		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						209.0	204.0	206.0					3																	45537860		2203	4300	6503	SO:0001819	synonymous_variant	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45537860A>G	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1617A>G	3.37:g.45537860A>G						LARS2_ENST00000265537.3_Silent_p.P539P|LARS2_ENST00000414984.1_Silent_p.P496P|LARS2-AS1_ENST00000442534.2_RNA	p.P539P			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	13	1758	+			539						Silent	SNP	ENST00000415258.1	37	c.1617A>G	CCDS2728.1																																																																																				0.448	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		49	115	0	0	0	1	0	49	115				
EPHB4	2050	broad.mit.edu	37	7	100401201	100401201	+	Missense_Mutation	SNP	C	C	T	rs373446670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100401201C>T	ENST00000358173.3	-	17	3314	c.2846G>A	c.(2845-2847)cGa>cAa	p.R949Q	EPHB4_ENST00000360620.3_Missense_Mutation_p.R897Q	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	949	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACTCCGATTCGGAGCAGGTC	0.607																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2845-2847)cGa>cAa		EPH receptor B4		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	32.0	33.0	33.0		2846	4.6	1.0	7		33	0,8600		0,0,4300	no	missense	EPHB4	NM_004444.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	949/988	100401201	1,13005	2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100401201C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2846G>A	7.37:g.100401201C>T	ENSP00000350896:p.Arg949Gln					EPHB4_ENST00000360620.3_Missense_Mutation_p.R897Q	p.R949Q	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			17	3314	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		949			SAM.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2846G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873389	0.91664	2.27E-4	0.0	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.49139	0.79;0.79	4.64	4.64	0.57946	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.41294	D	0.000916	T	0.61776	0.2374	L	0.59436	1.845	0.42499	D	0.99292	D;D	0.76494	0.999;0.999	P;P	0.61397	0.888;0.888	T	0.66771	-0.5839	10	0.72032	D	0.01	.	15.0721	0.72046	0.0:1.0:0.0:0.0	.	897;949	Q96L35;P54760	.;EPHB4_HUMAN	Q	897;949	ENSP00000353833:R897Q;ENSP00000350896:R949Q	ENSP00000350896:R949Q	R	-	2	0	EPHB4	100239137	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.844000	0.62846	2.137000	0.66172	0.456000	0.33151	CGA		0.607	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		4	17	0	0	0	1	0	4	17				
TARS	6897	broad.mit.edu	37	5	33467054	33467054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:33467054C>T	ENST00000265112.3	+	18	2298	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	TARS_ENST00000541634.1_Nonsense_Mutation_p.R559*|TARS_ENST00000502553.1_Nonsense_Mutation_p.R663*|TARS_ENST00000414361.2_Nonsense_Mutation_p.R542*|TARS_ENST00000455217.2_Nonsense_Mutation_p.R696*	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	663					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)	p.R663*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TAAAAAGATTCGAAATGCACA	0.373																																						ENST00000265112.3																			1	Substitution - Nonsense(1)	p.R663*(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1987-1989)Cga>Tga		threonyl-tRNA synthetase	L-Threonine(DB00156)						85.0	81.0	82.0					5																	33467054		2203	4300	6503	SO:0001587	stop_gained	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33467054C>T	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.1987C>T	5.37:g.33467054C>T	ENSP00000265112:p.Arg663*					TARS_ENST00000502553.1_Nonsense_Mutation_p.R663*|TARS_ENST00000455217.2_Nonsense_Mutation_p.R696*|TARS_ENST00000414361.2_Nonsense_Mutation_p.R542*|TARS_ENST00000541634.1_Nonsense_Mutation_p.R559*	p.R663*	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			18	2298	+			663					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Nonsense_Mutation	SNP	ENST00000265112.3	37	c.1987C>T	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	c	39	7.596827	0.98381	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	.	.	.	5.62	3.22	0.36961	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7129	12.571	0.56337	0.725:0.275:0.0:0.0	.	.	.	.	X	663;663;559;696;542	.	ENSP00000265112:R663X	R	+	1	2	TARS	33502811	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.600000	0.46240	0.400000	0.25396	-0.262000	0.10625	CGA		0.373	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		15	32	0	0	0	1	0	15	32				
CROCCP2	84809	broad.mit.edu	37	1	16959664	16959664	+	lincRNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16959664C>T	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TTGTCCAGGTCGCTTTGCATC	0.632																																						ENST00000412962.1																			0																																																			0							g.chr1:16959664C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959664C>T														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.632	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	109	0	0	0	1	0	6	109				
ZFC3H1	196441	broad.mit.edu	37	12	72037952	72037952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72037952G>A	ENST00000378743.3	-	5	1784	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	476					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R476*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAGAGATCTCGAATTTTTCTG	0.363																																						ENST00000378743.3																			1	Substitution - Nonsense(1)	p.R476*(1)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1426-1428)Cga>Tga		zinc finger, C3H1-type containing							174.0	159.0	164.0					12																	72037952		1868	4106	5974	SO:0001587	stop_gained	196441				RNA processing	intracellular	metal ion binding	g.chr12:72037952G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1426C>T	12.37:g.72037952G>A	ENSP00000368017:p.Arg476*						p.R476*	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			5	1784	-			476					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	37	c.1426C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	38	7.045467	0.98025	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.0	4.1	0.47936	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8725	0.57972	0.0:0.0:0.581:0.419	.	.	.	.	X	476	.	ENSP00000368017:R476X	R	-	1	2	ZFC3H1	70324219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.985000	0.40668	1.068000	0.40764	0.655000	0.94253	CGA		0.363	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		4	16	0	0	0	1	0	4	16				
LIPI	149998	broad.mit.edu	37	21	15561492	15561492	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:15561492T>C	ENST00000536861.1	-	2	294	c.295A>G	c.(295-297)Att>Gtt	p.I99V	LIPI_ENST00000344577.2_Missense_Mutation_p.I120V			Q6XZB0	LIPI_HUMAN	lipase, member I	99					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCAGCAAAATCCTTACGAAG	0.368																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(358-360)Att>Gtt		lipase, member I							94.0	88.0	90.0					21																	15561492		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561492T>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.295A>G	21.37:g.15561492T>C	ENSP00000440381:p.Ile99Val					LIPI_ENST00000536861.1_Missense_Mutation_p.I99V	p.I120V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	383	-			99					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.358A>G		.	.	.	.	.	.	.	.	.	.	T	0.046	-1.266296	0.01433	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90004	-2.6;-2.6	5.3	-3.31	0.04988	.	0.807220	0.11747	N	0.533448	T	0.71341	0.3328	N	0.04508	-0.205	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.003	T	0.58429	-0.7638	10	0.33940	T	0.23	.	7.9868	0.30216	0.0:0.3489:0.3032:0.3479	.	99;120	G1JSG6;Q6XZB0-2	.;.	V	120;99	ENSP00000343331:I120V;ENSP00000440381:I99V	ENSP00000343331:I120V	I	-	1	0	LIPI	14483363	0.000000	0.05858	0.021000	0.16686	0.072000	0.16883	-0.027000	0.12371	-0.356000	0.08187	0.533000	0.62120	ATT		0.368	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		12	28	0	0	0	1	0	12	28				
SPINK5	11005	broad.mit.edu	37	5	147491427	147491427	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147491427G>T	ENST00000256084.7	+	19	1831	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	SPINK5_ENST00000398454.1_Missense_Mutation_p.G597C|SPINK5_ENST00000359874.3_Missense_Mutation_p.G597C	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	597	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G597C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAATCCACGGCAACACCTG	0.537																																						ENST00000359874.3																			2	Substitution - Missense(2)	p.G597C(2)	lung(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1789-1791)Ggc>Tgc		serine peptidase inhibitor, Kazal type 5							120.0	120.0	120.0					5																	147491427		1985	4165	6150	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147491427G>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1789G>T	5.37:g.147491427G>T	ENSP00000256084:p.Gly597Cys					SPINK5_ENST00000398454.1_Missense_Mutation_p.G597C|SPINK5_ENST00000256084.7_Missense_Mutation_p.G597C	p.G597C	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	1862	+			597			Kazal-like 9.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1789G>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103330	0.56183	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	4.52	3.63	0.41609	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.529644	0.15819	N	0.243112	T	0.18299	0.0439	M	0.76170	2.325	0.20196	N	0.999922	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.997;0.996	T	0.02098	-1.1214	10	0.56958	D	0.05	-5.5588	9.0879	0.36592	0.1001:0.0:0.8999:0.0	.	578;597;597;597	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	C	597;597;578;597	ENSP00000381472:G597C;ENSP00000352936:G597C;ENSP00000421519:G578C;ENSP00000256084:G597C	ENSP00000256084:G597C	G	+	1	0	SPINK5	147471620	0.986000	0.35501	0.514000	0.27761	0.902000	0.53008	1.916000	0.39986	1.472000	0.48140	0.650000	0.86243	GGC		0.537	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		29	44	1	0	3.73148e-12	1	4.68978e-12	29	44				
NUP210	23225	broad.mit.edu	37	3	13420466	13420466	+	Missense_Mutation	SNP	C	C	A	rs573649420		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:13420466C>A	ENST00000254508.5	-	8	1073	c.991G>T	c.(991-993)Ggt>Tgt	p.G331C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	331					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTAGAAGCACCTTGCATGCGA	0.498																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(991-993)Ggt>Tgt		nucleoporin 210kDa							147.0	126.0	133.0					3																	13420466		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13420466C>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.991G>T	3.37:g.13420466C>A	ENSP00000254508:p.Gly331Cys						p.G331C	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			8	1073	-	all_neural(104;0.187)		331					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.991G>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746750	0.89663	.	.	ENSG00000132182	ENST00000254508	T	0.05855	3.38	5.17	5.17	0.71159	.	0.500904	0.22840	N	0.054981	T	0.23532	0.0569	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00222	-1.1904	10	0.72032	D	0.01	.	16.426	0.83814	0.0:1.0:0.0:0.0	.	331;331	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	C	331	ENSP00000254508:G331C	ENSP00000254508:G331C	G	-	1	0	NUP210	13395466	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.749000	0.68704	2.386000	0.81285	0.655000	0.94253	GGT		0.498	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		28	46	1	0	1.5548e-18	1	2.10666e-18	28	46				
DEGS1	8560	broad.mit.edu	37	1	224377638	224377638	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:224377638T>G	ENST00000323699.4	+	2	608	c.442T>G	c.(442-444)Ttt>Gtt	p.F148V	DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.F148V	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	148					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TCCTACCGATTTTGAGGGCTG	0.428																																						ENST00000323699.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(4)	10						c.(442-444)Ttt>Gtt		delta(4)-desaturase, sphingolipid 1							205.0	197.0	200.0					1																	224377638		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224377638T>G	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.442T>G	1.37:g.224377638T>G	ENSP00000316476:p.Phe148Val					DEGS1_ENST00000391877.3_Missense_Mutation_p.F148V|DEGS1_ENST00000465848.1_3'UTR	p.F148V	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	608	+	Breast(184;0.193)		148						Missense_Mutation	SNP	ENST00000323699.4	37	c.442T>G	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.896182	0.52121	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.17691	2.26;2.26;2.26	6.02	6.02	0.97574	Fatty acid desaturase, type 1 (1);	0.043610	0.85682	D	0.000000	T	0.25717	0.0626	M	0.71296	2.17	0.80722	D	1	B;P	0.38617	0.018;0.64	B;B	0.40602	0.034;0.334	T	0.01884	-1.1254	10	0.27785	T	0.31	.	16.5427	0.84406	0.0:0.0:0.0:1.0	.	148;127	O15121;E7EMA0	DEGS1_HUMAN;.	V	127;148;148	ENSP00000400545:F127V;ENSP00000316476:F148V;ENSP00000375749:F148V	ENSP00000316476:F148V	F	+	1	0	DEGS1	222444261	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	5.111000	0.64628	2.309000	0.77851	0.448000	0.29417	TTT		0.428	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			16	114	0	0	0	1	0	16	114				
SETD5	55209	broad.mit.edu	37	3	9489440	9489440	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:9489440G>A	ENST00000406341.1	+	14	2043	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	SETD5_ENST00000402198.1_Missense_Mutation_p.R618Q|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402466.1_Missense_Mutation_p.R520Q|SETD5_ENST00000407969.1_Missense_Mutation_p.R637Q|SETD5_ENST00000302463.6_Missense_Mutation_p.R520Q			Q9C0A6	SETD5_HUMAN	SET domain containing 5	618								p.R520L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCGAAGAGTCGAATTTCTCGG	0.522																																						ENST00000402466.1																			1	Substitution - Missense(1)	p.R520L(1)	breast(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1558-1560)cGa>cAa		SET domain containing 5							92.0	95.0	94.0					3																	9489440		1936	4132	6068	SO:0001583	missense	55209							g.chr3:9489440G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1853G>A	3.37:g.9489440G>A	ENSP00000383939:p.Arg618Gln					SETD5_ENST00000402198.1_Missense_Mutation_p.R618Q|SETD5_ENST00000406341.1_Missense_Mutation_p.R618Q|SETD5_ENST00000407969.1_Missense_Mutation_p.R637Q|SETD5_ENST00000302463.6_Missense_Mutation_p.R520Q|SETD5_ENST00000488236.1_3'UTR	p.R520Q			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	16	2327	+	Medulloblastoma(99;0.227)		618					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1559G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191728	0.94923	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93547	-2.9;-3.24;-2.9;-2.88;-3.24	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	L	0.59436	1.845	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.99;0.988;0.988	D	0.95672	0.8724	10	0.52906	T	0.07	-7.3921	19.8199	0.96589	0.0:0.0:1.0:0.0	.	287;520;618;637	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	Q	618;520;618;637;520	ENSP00000385852:R618Q;ENSP00000384429:R520Q;ENSP00000383939:R618Q;ENSP00000384114:R637Q;ENSP00000302028:R520Q	ENSP00000302028:R520Q	R	+	2	0	SETD5	9464440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.275000	0.95738	2.677000	0.91161	0.655000	0.94253	CGA		0.522	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		46	103	0	0	0	1	0	46	103				
DOCK7	85440	broad.mit.edu	37	1	63128788	63128788	+	Missense_Mutation	SNP	C	C	T	rs375898065		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63128788C>T	ENST00000340370.5	-	2	69	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	DOCK7_ENST00000404627.2_Missense_Mutation_p.E18K|DOCK7_ENST00000251157.5_Missense_Mutation_p.E18K	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	18					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTCCTAACTTCGGCTGCCACC	0.358																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(52-54)Gaa>Aaa		dedicator of cytokinesis 7							147.0	140.0	142.0					1																	63128788		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63128788C>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.52G>A	1.37:g.63128788C>T	ENSP00000340742:p.Glu18Lys					DOCK7_ENST00000404627.2_Missense_Mutation_p.E18K|DOCK7_ENST00000340370.5_Missense_Mutation_p.E18K	p.E18K	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			2	85	-			18					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.52G>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529917	0.85706	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.24723	2.29;2.29;1.84	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.82056	2.57	0.80722	D	1	P;D;D	0.64830	0.902;0.994;0.994	B;P;P	0.59948	0.291;0.866;0.811	T	0.47262	-0.9131	10	0.72032	D	0.01	.	18.4847	0.90824	0.0:1.0:0.0:0.0	.	18;18;18	Q96NI0;Q96N67-2;Q96N67-5	.;.;.	K	18	ENSP00000251157:E18K;ENSP00000340742:E18K;ENSP00000384446:E18K	ENSP00000251157:E18K	E	-	1	0	DOCK7	62901376	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.779000	0.75057	2.660000	0.90430	0.579000	0.79373	GAA		0.358	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		28	64	0	0	0	1	0	28	64				
SLC23A3	151295	broad.mit.edu	37	2	220026863	220026863	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220026863C>T	ENST00000409878.3	-	12	1633	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q	SLC23A3_ENST00000295738.7_Missense_Mutation_p.R417Q|SLC23A3_ENST00000396775.3_3'UTR|NHEJ1_ENST00000356853.5_5'Flank|SLC23A3_ENST00000455516.2_Missense_Mutation_p.R542Q	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	534					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGGCATTCGAGCCTCTTG	0.567																																						ENST00000455516.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11						c.(1624-1626)cGa>cAa		solute carrier family 23, member 3							62.0	64.0	64.0					2																	220026863		1999	4165	6164	SO:0001583	missense	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220026863C>T	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1601G>A	2.37:g.220026863C>T	ENSP00000386473:p.Arg534Gln					SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000295738.7_Missense_Mutation_p.R417Q|SLC23A3_ENST00000409878.3_Missense_Mutation_p.R534Q	p.R542Q	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1672	-		Renal(207;0.0474)	534					B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	c.1625G>A	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	C	0.565	-0.843727	0.02671	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516	T;T;T	0.41758	0.99;2.31;2.31	3.4	-6.49	0.01890	.	1.811410	0.03601	N	0.233446	T	0.17408	0.0418	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.13594	0.001;0.008;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.18587	-1.0332	9	.	.	.	.	8.3314	0.32189	0.0:0.2694:0.1164:0.6143	.	534;542;417	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	Q	417;534;542	ENSP00000295738:R417Q;ENSP00000386473:R534Q;ENSP00000406546:R542Q	.	R	-	2	0	SLC23A3	219735107	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.509000	0.02264	-1.701000	0.01413	-0.379000	0.06801	CGA		0.567	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		10	56	0	0	0	1	0	10	56				
RAD18	56852	broad.mit.edu	37	3	8981263	8981263	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8981263C>T	ENST00000264926.2	-	6	795	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RAD18_ENST00000495087.1_5'Flank	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	227					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTCTTCTCTTCGCGTGATAAA	0.403								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(679-681)Gaa>Aaa	Rad6 pathway	RAD18 homolog (S. cerevisiae)							183.0	187.0	186.0					3																	8981263		2203	4300	6503	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8981263C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.679G>A	3.37:g.8981263C>T	ENSP00000264926:p.Glu227Lys						p.E227K	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	6	795	-			227					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.679G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308529	0.81247	.	.	ENSG00000070950	ENST00000264926	T	0.23754	1.89	5.87	5.87	0.94306	.	0.282060	0.40064	N	0.001186	T	0.29389	0.0732	M	0.70275	2.135	0.53688	D	0.999975	B	0.31125	0.309	B	0.27500	0.08	T	0.12218	-1.0556	10	0.10377	T	0.69	-8.7997	18.7722	0.91896	0.0:1.0:0.0:0.0	.	227	Q9NS91	RAD18_HUMAN	K	227	ENSP00000264926:E227K	ENSP00000264926:E227K	E	-	1	0	RAD18	8956263	0.993000	0.37304	0.588000	0.28705	0.936000	0.57629	7.266000	0.78452	2.774000	0.95407	0.650000	0.86243	GAA		0.403	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		12	46	0	0	0	1	0	12	46				
TRIM50	135892	broad.mit.edu	37	7	72733015	72733015	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:72733015C>T	ENST00000333149.2	-	4	732	c.532G>A	c.(532-534)Gag>Aag	p.E178K	TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000453152.1_Missense_Mutation_p.E178K	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	178						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TCCTGGAACTCGCGGCGGATC	0.652																																						ENST00000333149.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(532-534)Gag>Aag		tripartite motif containing 50							75.0	77.0	76.0					7																	72733015		2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72733015C>T	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.532G>A	7.37:g.72733015C>T	ENSP00000327994:p.Glu178Lys					TRIM50_ENST00000453152.1_Missense_Mutation_p.E178K	p.E178K	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN			4	732	-			178					Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.532G>A	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512782	0.64522	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.66815	-0.23;-0.23	4.36	4.36	0.52297	.	0.000000	0.56097	D	0.000022	T	0.72969	0.3527	L	0.29908	0.895	0.39245	D	0.963936	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.78321	-0.2249	10	0.72032	D	0.01	.	16.1198	0.81342	0.0:1.0:0.0:0.0	.	178;178	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	K	178	ENSP00000327994:E178K;ENSP00000413875:E178K	ENSP00000327994:E178K	E	-	1	0	TRIM50	72370951	1.000000	0.71417	0.926000	0.36857	0.926000	0.56050	4.873000	0.63057	2.253000	0.74438	0.461000	0.40582	GAG		0.652	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		37	102	0	0	0	1	0	37	102				
CYP3A43	64816	broad.mit.edu	37	7	99454470	99454470	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99454470C>A	ENST00000354829.2	+	9	916	c.813C>A	c.(811-813)ttC>ttA	p.F271L	CYP3A43_ENST00000444905.1_Missense_Mutation_p.F18L|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000415413.1_Missense_Mutation_p.F60L|CYP3A43_ENST00000417625.1_Missense_Mutation_p.F161L|CYP3A43_ENST00000312017.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000222382.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000342499.4_Missense_Mutation_p.F131L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	271			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	GAGTAGATTTCTTTCAACAGA	0.443																																						ENST00000354829.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(811-813)ttC>ttA		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						90.0	97.0	95.0					7																	99454470		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99454470C>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.813C>A	7.37:g.99454470C>A	ENSP00000346887:p.Phe271Leu					CYP3A43_ENST00000222382.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000417625.1_Missense_Mutation_p.F161L|CYP3A43_ENST00000444905.1_Missense_Mutation_p.F18L|CYP3A43_ENST00000342499.4_Missense_Mutation_p.F131L|CYP3A43_ENST00000415413.1_Missense_Mutation_p.F60L	p.F271L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN			9	916	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		271		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.813C>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830007	0.32329	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	2.26	-0.129	0.13502	.	0.119586	0.56097	N	0.000022	T	0.60011	0.2236	L	0.35854	1.095	0.39775	D	0.97221	B;P;B;B;B	0.43024	0.067;0.798;0.246;0.081;0.081	B;P;B;B;B	0.48030	0.112;0.564;0.124;0.106;0.106	T	0.53975	-0.8362	10	0.41790	T	0.15	.	4.1898	0.10416	0.0:0.3935:0.0:0.6065	.	161;131;271;271;271	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	L	271;161;131;18;60;271;271	ENSP00000346887:F271L;ENSP00000416581:F161L;ENSP00000345351:F131L;ENSP00000405557:F18L;ENSP00000401521:F60L;ENSP00000312110:F271L;ENSP00000222382:F271L	ENSP00000222382:F271L	F	+	3	2	CYP3A43	99292406	0.745000	0.28261	0.374000	0.26016	0.212000	0.24457	-0.191000	0.09601	-0.037000	0.13646	0.195000	0.17529	TTC		0.443	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			29	60	1	0	6.07407e-21	1	8.36301e-21	29	60				
AP3D1	8943	broad.mit.edu	37	19	2151286	2151286	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:2151286C>A	ENST00000345016.5	-	1	279	c.48G>T	c.(46-48)aaG>aaT	p.K16N	AP3D1_ENST00000355272.6_Missense_Mutation_p.K16N|AP3D1_ENST00000350812.6_Missense_Mutation_p.K16N|AP3D1_ENST00000356926.4_Missense_Mutation_p.K16N	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	16					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCAGATTCTTGTCGAACA	0.692																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(46-48)aaG>aaT		adaptor-related protein complex 3, delta 1 subunit							41.0	42.0	42.0					19																	2151286		1964	4139	6103	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2151286C>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.48G>T	19.37:g.2151286C>A	ENSP00000344055:p.Lys16Asn					AP3D1_ENST00000350812.6_Missense_Mutation_p.K16N|AP3D1_ENST00000356926.4_Missense_Mutation_p.K16N|AP3D1_ENST00000345016.5_Missense_Mutation_p.K16N	p.K16N	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	254	-		Hepatocellular(1079;0.137)	16					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.48G>T	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201129	0.79015	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.23552	1.97;2.38;2.34;1.9	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.69823	2.125	0.25418	N	0.9883	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.93;0.982;0.994	T	0.41627	-0.9498	10	0.87932	D	0	-35.5357	15.0948	0.72226	0.0:1.0:0.0:0.0	.	16;16;16	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	N	16	ENSP00000349398:K16N;ENSP00000344055:K16N;ENSP00000347416:K16N;ENSP00000342321:K16N	ENSP00000341579:K16N	K	-	3	2	AP3D1	2102286	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.304000	0.51866	2.095000	0.63458	0.430000	0.28490	AAG		0.692	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			10	26	1	0	6.42651e-13	1	8.16824e-13	10	26				
QTRTD1	79691	broad.mit.edu	37	3	113789594	113789594	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113789594A>C	ENST00000493014.1	+	2	205	c.137A>C	c.(136-138)aAg>aCg	p.K46T	QTRTD1_ENST00000281273.4_Missense_Mutation_p.K152T|QTRTD1_ENST00000485050.1_Missense_Mutation_p.K164T|QTRTD1_ENST00000479882.1_Missense_Mutation_p.K29T|QTRTD1_ENST00000466050.1_3'UTR	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GTATCTTGTAAGGAAGCAACT	0.483																																						ENST00000281273.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						c.(454-456)aAg>aCg		queuine tRNA-ribosyltransferase domain containing 1							111.0	101.0	104.0					3																	113789594		2203	4300	6503	SO:0001583	missense	79691				queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr3:113789594A>C	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.137A>C	3.37:g.113789594A>C	ENSP00000419169:p.Lys46Thr					QTRTD1_ENST00000485050.1_Missense_Mutation_p.K164T|QTRTD1_ENST00000479882.1_Missense_Mutation_p.K29T|QTRTD1_ENST00000466050.1_3'UTR|QTRTD1_ENST00000493014.1_Missense_Mutation_p.K46T	p.K152T	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN			6	712	+			152						Missense_Mutation	SNP	ENST00000493014.1	37	c.455A>C	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	A	7.287	0.610224	0.14066	.	.	ENSG00000151576	ENST00000472599;ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.5	-6.17	0.02091	.	0.770068	0.12196	N	0.490778	T	0.09818	0.0241	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.13145	0.007;0.0;0.004;0.0	B;B;B;B	0.15484	0.013;0.001;0.006;0.006	T	0.34104	-0.9842	9	0.62326	D	0.03	0.2023	8.248	0.31700	0.1023:0.7322:0.0943:0.0712	.	46;29;166;152	B7Z472;B7Z5R2;C9JJ71;Q9H974	.;.;.;QTRD1_HUMAN	T	166;164;152;29;46	.	ENSP00000281273:K152T	K	+	2	0	QTRTD1	115272284	0.072000	0.21174	0.000000	0.03702	0.488000	0.33401	1.129000	0.31381	-0.488000	0.06726	0.459000	0.35465	AAG		0.483	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		27	44	0	0	0	1	0	27	44				
AP4B1	10717	broad.mit.edu	37	1	114438410	114438410	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114438410C>T	ENST00000369569.1	-	9	2041	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Silent_p.E587E|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Silent_p.E419E	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	587					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTAGGAAGCTCTGGGTCAC	0.453																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1759-1761)gaG>gaA		adaptor-related protein complex 4, beta 1 subunit							82.0	84.0	83.0					1																	114438410		2203	4300	6503	SO:0001819	synonymous_variant	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438410C>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1761G>A	1.37:g.114438410C>T						AP4B1_ENST00000256658.4_Silent_p.E587E|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.E419E|AP4B1_ENST00000462591.1_5'UTR	p.E587E	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	2041	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	587					B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	37	c.1761G>A	CCDS865.1																																																																																				0.453	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		14	31	0	0	0	1	0	14	31				
CCDC67	159989	broad.mit.edu	37	11	93104221	93104221	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93104221C>G	ENST00000298050.3	+	7	664	c.564C>G	c.(562-564)taC>taG	p.Y188*		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	188					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CACAAAGTTACCAAACTCAAC	0.323																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(562-564)taC>taG		coiled-coil domain containing 67							51.0	48.0	49.0					11																	93104221		1821	4079	5900	SO:0001587	stop_gained	159989							g.chr11:93104221C>G	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.564C>G	11.37:g.93104221C>G	ENSP00000298050:p.Tyr188*						p.Y188*	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			7	664	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	188					Q8NEF1|Q96LL7	Nonsense_Mutation	SNP	ENST00000298050.3	37	c.564C>G	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	37	6.203864	0.97371	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819	.	.	.	5.61	4.7	0.59300	.	0.184679	0.38058	N	0.001838	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0673	0.19870	0.0:0.7616:0.0:0.2384	.	.	.	.	X	188	.	ENSP00000298050:Y188X	Y	+	3	2	CCDC67	92743869	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.160000	0.31761	2.650000	0.89964	0.655000	0.94253	TAC		0.323	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		10	11	0	0	0	1	0	10	11				
MOGS	7841	broad.mit.edu	37	2	74688986	74688986	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74688986G>A	ENST00000233616.4	-	4	2092	c.1930C>T	c.(1930-1932)Cac>Tac	p.H644Y	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.H538Y	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	644					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGGGCCCAGTGCAGCTCATCC	0.637																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1930-1932)Cac>Tac		mannosyl-oligosaccharide glucosidase							33.0	39.0	37.0					2																	74688986		1990	4162	6152	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688986G>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1930C>T	2.37:g.74688986G>A	ENSP00000233616:p.His644Tyr					MOGS_ENST00000452063.2_Missense_Mutation_p.H538Y|MOGS_ENST00000409065.1_3'UTR	p.H644Y	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	2092	-			644					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1930C>T	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348130	0.61183	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.62498	0.02;0.02	5.03	5.03	0.67393	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	D	0.83390	0.5244	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86355	0.1713	10	0.52906	T	0.07	-16.7542	15.8931	0.79315	0.0:0.0:1.0:0.0	.	644	Q13724	MOGS_HUMAN	Y	644;538	ENSP00000233616:H644Y;ENSP00000388201:H538Y	ENSP00000233616:H644Y	H	-	1	0	MOGS	74542494	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	8.572000	0.90756	2.621000	0.88768	0.563000	0.77884	CAC		0.637	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		23	58	0	0	0	1	0	23	58				
DPP10	57628	broad.mit.edu	37	2	116598356	116598356	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:116598356T>G	ENST00000410059.1	+	25	2693	c.2213T>G	c.(2212-2214)tTa>tGa	p.L738*	DPP10_ENST00000409163.1_Nonsense_Mutation_p.L688*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.L742*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.L731*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	738						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCAGCAGAATTAATCAAGCAC	0.328																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(2212-2214)tTa>tGa		dipeptidyl-peptidase 10 (non-functional)							98.0	97.0	97.0					2																	116598356		2203	4300	6503	SO:0001587	stop_gained	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116598356T>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2213T>G	2.37:g.116598356T>G	ENSP00000386565:p.Leu738*					DPP10_ENST00000310323.8_Nonsense_Mutation_p.L731*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.L742*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.L688*	p.L738*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			25	2693	+			738					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	37	c.2213T>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	41	8.928407	0.99006	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	.	.	.	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2904	15.6754	0.77316	0.0:0.0:0.0:1.0	.	.	.	.	X	738;688;742;731	.	ENSP00000309066:L731X	L	+	2	0	DPP10	116314826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.911000	0.75746	2.291000	0.77112	0.533000	0.62120	TTA		0.328	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		7	35	0	0	0	1	0	7	35				
HSP90B1	7184	broad.mit.edu	37	12	104336433	104336433	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104336433G>A	ENST00000299767.5	+	12	1685	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	501					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AAGACCACTCGAATCGAACAC	0.393																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1501-1503)tcG>tcA		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						118.0	116.0	116.0					12																	104336433		2203	4300	6503	SO:0001819	synonymous_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336433G>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1503G>A	12.37:g.104336433G>A							p.S501S	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			12	1685	+			501					Q96A97	Silent	SNP	ENST00000299767.5	37	c.1503G>A	CCDS9094.1																																																																																				0.393	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		17	39	0	0	0	1	0	17	39				
FUT9	10690	broad.mit.edu	37	6	96651946	96651946	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:96651946C>T	ENST00000302103.5	+	3	1241	c.915C>T	c.(913-915)gtC>gtT	p.V305V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	305					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGAAGGAAGTCGACAAAAACA	0.373																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(913-915)gtC>gtT		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							81.0	81.0	81.0					6																	96651946		2203	4300	6503	SO:0001819	synonymous_variant	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651946C>T	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.915C>T	6.37:g.96651946C>T							p.V305V	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1241	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	305					Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.915C>T	CCDS5033.1																																																																																				0.373	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		5	36	0	0	0	1	0	5	36				
KCNIP4	80333	broad.mit.edu	37	4	20852208	20852208	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20852208A>C	ENST00000382152.2	-	3	413	c.246T>G	c.(244-246)ttT>ttG	p.F82L	KCNIP4_ENST00000382150.4_Missense_Mutation_p.F61L|KCNIP4_ENST00000382148.3_Missense_Mutation_p.F57L|KCNIP4_ENST00000509207.1_Missense_Mutation_p.F20L|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F20L|KCNIP4_ENST00000447367.2_Missense_Mutation_p.F48L	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	82	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CTTTCTTGGTAAATTTGCTCT	0.448																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(169-171)ttT>ttG		Kv channel interacting protein 4							79.0	83.0	82.0					4																	20852208		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20852208A>C	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.246T>G	4.37:g.20852208A>C	ENSP00000371587:p.Phe82Leu					KCNIP4_ENST00000382152.2_Missense_Mutation_p.F82L|KCNIP4_ENST00000447367.2_Missense_Mutation_p.F48L|KCNIP4_ENST00000509207.1_Missense_Mutation_p.F20L|KCNIP4_ENST00000382150.4_Missense_Mutation_p.F61L|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F20L|KCNIP4_ENST00000382149.4_5'UTR	p.F57L	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN			2	507	-		Breast(46;0.134)	82					Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.171T>G	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035378	0.75617	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.42	-3.89	0.04193	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	M	0.90082	3.085	0.54753	D	0.999982	P;P;P;P	0.51057	0.941;0.941;0.941;0.941	B;P;P;B	0.49953	0.399;0.495;0.627;0.413	T	0.80034	-0.1551	10	0.87932	D	0	.	14.8472	0.70270	0.2937:0.0:0.7063:0.0	.	57;61;65;82	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	L	57;48;61;20;82;20;20	ENSP00000371583:F57L;ENSP00000399080:F48L;ENSP00000371585:F61L;ENSP00000371587:F82L;ENSP00000423257:F20L;ENSP00000351892:F20L	ENSP00000351892:F20L	F	-	3	2	KCNIP4	20461306	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	0.929000	0.28844	-0.616000	0.05671	-0.290000	0.09829	TTT		0.448	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		29	47	0	0	0	1	0	29	47				
GJA9	81025	broad.mit.edu	37	1	39340703	39340703	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39340703T>C	ENST00000360786.3	-	1	1320	c.1068A>G	c.(1066-1068)aaA>aaG	p.K356K	GJA9_ENST00000454994.2_Silent_p.K356K|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.K356K|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	356					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTCCAAATATTTTATGAGTGT	0.338																																						ENST00000454994.2																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1066-1068)aaA>aaG		gap junction protein, alpha 9, 59kDa							111.0	113.0	112.0					1																	39340703		2203	4300	6503	SO:0001819	synonymous_variant	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340703T>C	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1068A>G	1.37:g.39340703T>C						GJA9_ENST00000360786.3_Silent_p.K356K|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Silent_p.K356K|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA	p.K356K			P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1344	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	356					B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000360786.3	37	c.1068A>G	CCDS432.1																																																																																				0.338	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		11	33	0	0	0	1	0	11	33				
F8	2157	broad.mit.edu	37	X	154157019	154157019	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154157019G>A	ENST00000360256.4	-	14	5246	c.5046C>T	c.(5044-5046)gaC>gaT	p.D1682D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1682					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TATCATCATAGTCAATTTCCT	0.413																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(5044-5046)gaC>gaT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						147.0	123.0	131.0					X																	154157019		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157019G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5046C>T	X.37:g.154157019G>A							p.D1682D	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	5246	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1682					Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.5046C>T	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			24	35	0	0	0	1	0	24	35				
RGS7	6000	broad.mit.edu	37	1	240966271	240966271	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240966271T>G	ENST00000407727.1	-	15	1291	c.1292A>C	c.(1291-1293)aAa>aCa	p.K431T	RGS7_ENST00000366565.1_Missense_Mutation_p.K431T|RGS7_ENST00000366564.1_Missense_Mutation_p.K431T|RGS7_ENST00000331110.7_Missense_Mutation_p.K405T|RGS7_ENST00000401882.1_Missense_Mutation_p.K378T|RGS7_ENST00000446183.2_Missense_Mutation_p.K347T|RGS7_ENST00000366562.4_Missense_Mutation_p.K431T|RGS7_ENST00000366563.1_Missense_Mutation_p.K431T|RGS7_ENST00000348120.2_Missense_Mutation_p.K378T			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	431	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGAATCACTTTTCATCAGTTT	0.358																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1291-1293)aAa>aCa		regulator of G-protein signaling 7							129.0	136.0	134.0					1																	240966271		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240966271T>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1292A>C	1.37:g.240966271T>G	ENSP00000384428:p.Lys431Thr					RGS7_ENST00000366564.1_Missense_Mutation_p.K431T|RGS7_ENST00000348120.2_Missense_Mutation_p.K378T|RGS7_ENST00000401882.1_Missense_Mutation_p.K378T|RGS7_ENST00000407727.1_Missense_Mutation_p.K431T|RGS7_ENST00000446183.2_Missense_Mutation_p.K347T|RGS7_ENST00000366562.4_Missense_Mutation_p.K431T|RGS7_ENST00000331110.7_Missense_Mutation_p.K405T|RGS7_ENST00000366563.1_Missense_Mutation_p.K431T	p.K431T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		16	1673	-		all_cancers(173;0.0131)	431			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1292A>C		.	.	.	.	.	.	.	.	.	.	T	27.2	4.812161	0.90707	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.02103	4.45;4.45;4.45;4.45;4.45;4.45;4.45;4.45;4.45;4.45	6.04	6.04	0.98038	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.044248	0.85682	D	0.000000	T	0.15782	0.0380	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.81914	0.993;0.982;0.99;0.988;0.99;0.984;0.995	T	0.00145	-1.1993	10	0.87932	D	0	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	347;405;378;431;431;431;431	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	T	405;431;431;431;262;378;347;431;431;378	ENSP00000331485:K405T;ENSP00000355523:K431T;ENSP00000355522:K431T;ENSP00000355521:K431T;ENSP00000404399:K262T;ENSP00000341242:K378T;ENSP00000390138:K347T;ENSP00000355520:K431T;ENSP00000384428:K431T;ENSP00000385508:K378T	ENSP00000331485:K405T	K	-	2	0	RGS7	239032894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	AAA		0.358	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		25	44	0	0	0	1	0	25	44				
GNPTAB	79158	broad.mit.edu	37	12	102153891	102153891	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102153891T>G	ENST00000299314.7	-	16	3428	c.3166A>C	c.(3166-3168)Aat>Cat	p.N1056H		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1056					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTTGAGCAATTTATTAGCATG	0.353																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3166-3168)Aat>Cat		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							195.0	186.0	189.0					12																	102153891		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102153891T>G	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3166A>C	12.37:g.102153891T>G	ENSP00000299314:p.Asn1056His						p.N1056H	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			16	3428	-			1056					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.3166A>C	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215083	0.79352	.	.	ENSG00000111670	ENST00000299314	D	0.96885	-4.16	5.71	5.71	0.89125	.	0.047494	0.85682	D	0.000000	D	0.98046	0.9356	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99026	1.0819	10	0.87932	D	0	-30.7947	15.9958	0.80243	0.0:0.0:0.0:1.0	.	1056	Q3T906	GNPTA_HUMAN	H	1056	ENSP00000299314:N1056H	ENSP00000299314:N1056H	N	-	1	0	GNPTAB	100678022	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.673000	0.83973	2.188000	0.69820	0.533000	0.62120	AAT		0.353	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			20	49	0	0	0	1	0	20	49				
OR2L8	391190	broad.mit.edu	37	1	248113023	248113023	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248113023C>A	ENST00000357191.3	+	1	864	c.864C>A	c.(862-864)atC>atA	p.I288I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACCCCATCATCTATAGCCTGA	0.498																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(862-864)atC>atA		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							69.0	56.0	61.0					1																	248113023		2203	4298	6501	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248113023C>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.864C>A	1.37:g.248113023C>A						OR2L13_ENST00000366478.2_Intron	p.I288I	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	864	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		288					Q6IF03	Silent	SNP	ENST00000357191.3	37	c.864C>A	CCDS31101.1																																																																																				0.498	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			8	88	1	0	0.000274275	1	0.000292037	8	88				
UGGT2	55757	broad.mit.edu	37	13	96589253	96589253	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:96589253A>C	ENST00000376747.3	-	17	1972	c.1902T>G	c.(1900-1902)aaT>aaG	p.N634K		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	634					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						GTTCTTTAATATTCATCTCTT	0.338																																						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.(1900-1902)aaT>aaG		UDP-glucose glycoprotein glucosyltransferase 2							86.0	91.0	89.0					13																	96589253		2203	4299	6502	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.chr13:96589253A>C	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.1902T>G	13.37:g.96589253A>C	ENSP00000365938:p.Asn634Lys						p.N634K	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			17	1972	-			634					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.1902T>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174649	0.38413	.	.	ENSG00000102595	ENST00000376747	T	0.27890	1.64	5.66	3.26	0.37387	.	0.273821	0.42053	D	0.000764	T	0.32376	0.0827	M	0.77820	2.39	0.24625	N	0.99365	B	0.12630	0.006	B	0.14023	0.01	T	0.24404	-1.0161	10	0.28530	T	0.3	-12.2171	9.5499	0.39304	0.8554:0.0:0.1446:0.0	.	634	Q9NYU1	UGGG2_HUMAN	K	634	ENSP00000365938:N634K	ENSP00000365938:N634K	N	-	3	2	UGGT2	95387254	0.219000	0.23619	0.001000	0.08648	0.008000	0.06430	2.612000	0.46343	0.520000	0.28426	0.533000	0.62120	AAT		0.338	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		16	55	0	0	0	1	0	16	55				
PPFIA2	8499	broad.mit.edu	37	12	81777837	81777837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:81777837C>A	ENST00000549396.1	-	9	1109	c.949G>T	c.(949-951)Gaa>Taa	p.E317*	RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E218*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E243*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E164*|PPFIA2_ENST00000545296.2_5'UTR	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	317	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTGTTCATTTCTTCTGTTTTA	0.433																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(949-951)Gaa>Taa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							147.0	140.0	142.0					12																	81777837		1912	4127	6039	SO:0001587	stop_gained	8499							g.chr12:81777837C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.949G>T	12.37:g.81777837C>A	ENSP00000450337:p.Glu317*					PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E164*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E317*|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E218*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E243*	p.E317*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			8	1244	-			243					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.949G>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.841343|6.841343	0.97877|0.97877	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	.|.	.|.	.|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.055448|.	0.64402|.	D|.	0.000001|.	.|T	.|0.76983	.|0.4064	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74163	.|-0.3754	.|4	0.72032|.	D|.	0.01|.	-20.5431|-20.5431	20.2422|20.2422	0.98381|0.98381	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	317;299;243;328;299;317;218;317|134	.|.	ENSP00000327416:E299X|.	E|K	-|-	1|3	0|2	PPFIA2|PPFIA2	80301968|80301968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.776000|7.776000	0.85560|0.85560	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			7	34	1	0	2.0095e-06	1	2.25447e-06	7	34				
RB1	5925	broad.mit.edu	37	13	48955517	48955517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48955517G>T	ENST00000267163.4	+	17	1771	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	545	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTTGACAAGAGAAATGATAAA	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		23	Whole gene deletion(15)|Unknown(8)	p.0?(15)|p.?(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM040262	RB1	M		c.(1633-1635)Gaa>Taa		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						84.0	78.0	80.0					13																	48955517		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955517G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1633G>T	13.37:g.48955517G>T	ENSP00000267163:p.Glu545*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.E545*	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1771	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	545			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1633G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	40	7.915889	0.98560	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	5.34	0.76211	.	0.110422	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	.	.	.	X	524;545	.	ENSP00000267163:E545X	E	+	1	0	RB1	47853518	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.488000	0.83962	0.650000	0.86243	GAA		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			8	22	1	0	0.0381472	1	0.0387537	8	22				
WWP1	11059	broad.mit.edu	37	8	87393822	87393822	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87393822G>A	ENST00000517970.1	+	5	605	c.298G>A	c.(298-300)Gat>Aat	p.D100N	WWP1_ENST00000265428.4_Missense_Mutation_p.D100N|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_Missense_Mutation_p.D100N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	100					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGCAACGATAGATTTGAAACA	0.333																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(298-300)Gat>Aat		WW domain containing E3 ubiquitin protein ligase 1							62.0	64.0	64.0					8																	87393822		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87393822G>A	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.298G>A	8.37:g.87393822G>A	ENSP00000427793:p.Asp100Asn					WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000265428.4_Missense_Mutation_p.D100N|WWP1_ENST00000341922.2_Missense_Mutation_p.D100N|WWP1_ENST00000349423.2_Intron	p.D100N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			5	605	+			100					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.298G>A	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341475	0.41498	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.69040	-0.37;-0.37;-0.37	4.83	4.83	0.62350	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.269359	0.35585	N	0.003114	T	0.63177	0.2489	L	0.44542	1.39	0.80722	D	1	P	0.45672	0.864	P	0.44647	0.456	T	0.59558	-0.7432	10	0.16896	T	0.51	.	18.2878	0.90120	0.0:0.0:1.0:0.0	.	100	Q9H0M0	WWP1_HUMAN	N	100	ENSP00000427793:D100N;ENSP00000265428:D100N;ENSP00000340564:D100N	ENSP00000265428:D100N	D	+	1	0	WWP1	87462938	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	8.715000	0.91416	2.376000	0.81061	0.467000	0.42956	GAT		0.333	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		22	34	0	0	0	1	0	22	34				
POLD2	5425	broad.mit.edu	37	7	44154947	44154947	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:44154947G>A	ENST00000406581.2	-	11	1845	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L	POLD2_ENST00000223361.3_Missense_Mutation_p.P385L|POLD2_ENST00000452185.1_Missense_Mutation_p.P399L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	399					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.P399Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GTAGACATGCGGGCACTCTGG	0.532																																						ENST00000406581.2																			2	Substitution - Missense(2)	p.P399Q(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1195-1197)cCg>cTg		polymerase (DNA directed), delta 2, accessory subunit							89.0	98.0	95.0					7																	44154947		2203	4300	6503	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44154947G>A		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1196C>T	7.37:g.44154947G>A	ENSP00000386105:p.Pro399Leu					POLD2_ENST00000452185.1_Missense_Mutation_p.P399L|POLD2_ENST00000223361.3_Missense_Mutation_p.P385L	p.P399L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN			11	1845	-			399					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.1196C>T	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944686	0.92593	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.73047	-0.71;1.7;-0.71	5.95	5.95	0.96441	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.948	D	0.91202	0.4992	10	0.87932	D	0	-29.4197	19.9958	0.97383	0.0:0.0:1.0:0.0	.	399;385	P49005;F8W8R3	DPOD2_HUMAN;.	L	399;385;399	ENSP00000386105:P399L;ENSP00000223361:P385L;ENSP00000395231:P399L	ENSP00000223361:P385L	P	-	2	0	POLD2	44121472	1.000000	0.71417	0.967000	0.41034	0.739000	0.42172	5.679000	0.68160	2.825000	0.97269	0.655000	0.94253	CCG		0.532	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		47	65	0	0	0	1	0	47	65				
PTCHD4	442213	broad.mit.edu	37	6	47846815	47846815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47846815G>A	ENST00000339488.4	-	3	1798	c.1765C>T	c.(1765-1767)Cga>Tga	p.R589*		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	589						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.R589*(1)									ATATCATTTCGAAAATGCTGG	0.423																																						ENST00000339488.4																			1	Substitution - Nonsense(1)	p.R589*(1)	large_intestine(1)								c.(1765-1767)Cga>Tga		patched domain containing 4							56.0	57.0	57.0					6																	47846815		2203	4300	6503	SO:0001587	stop_gained	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846815G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1765C>T	6.37:g.47846815G>A	ENSP00000341914:p.Arg589*						p.R589*	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1798	-			589					B0QZ29|B4DRK3|Q5T884	Nonsense_Mutation	SNP	ENST00000339488.4	37	c.1765C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503325	0.85176	.	.	ENSG00000244694	ENST00000339488	.	.	.	5.48	5.48	0.80851	.	0.411520	0.23712	N	0.045315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	12.4608	0.55731	0.0:0.0:0.7182:0.2818	.	.	.	.	X	589	.	ENSP00000341914:R589X	R	-	1	2	C6orf138	47954774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.435000	0.59941	2.592000	0.87571	0.650000	0.86243	CGA		0.423	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		5	26	0	0	0	1	0	5	26				
FAM179B	23116	broad.mit.edu	37	14	45433195	45433195	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45433195G>A	ENST00000361577.3	+	1	1785	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	FAM179B_ENST00000361462.2_Missense_Mutation_p.R524H|KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_Missense_Mutation_p.R524H	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	524								p.R524H(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GATAGCAAACGCAGGGTACGC	0.463																																						ENST00000361462.2																			1	Substitution - Missense(1)	p.R524H(1)	lung(1)	endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1570-1572)cGc>cAc		family with sequence similarity 179, member B							124.0	114.0	117.0					14																	45433195		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433195G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1571G>A	14.37:g.45433195G>A	ENSP00000355045:p.Arg524His					FAM179B_ENST00000382233.2_Missense_Mutation_p.R524H|FAM179B_ENST00000361577.3_Missense_Mutation_p.R524H|KLHL28_ENST00000553817.1_5'UTR	p.R524H			Q9Y4F4	F179B_HUMAN			1	1754	+			524					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1571G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072547	0.76415	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.79749	-1.3;-1.3;-1.3	4.59	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	D	0.87958	0.6309	M	0.70595	2.14	0.53005	D	0.999963	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.998;0.998;0.996	D	0.89105	0.3492	10	0.72032	D	0.01	-4.0239	13.8015	0.63204	0.0:0.0:0.8467:0.1533	.	524;524;524;524	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	H	524	ENSP00000355045:R524H;ENSP00000354917:R524H;ENSP00000371668:R524H	ENSP00000354917:R524H	R	+	2	0	FAM179B	44502945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.426000	0.59882	2.379000	0.81126	0.561000	0.74099	CGC		0.463	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		31	72	0	0	0	1	0	31	72				
ETAA1	54465	broad.mit.edu	37	2	67630550	67630550	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:67630550G>A	ENST00000272342.5	+	5	866	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	246						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TATAGTTCCCGAAATAGATAA	0.313																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(736-738)Gaa>Aaa		Ewing tumor-associated antigen 1							53.0	58.0	57.0					2																	67630550		2202	4299	6501	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630550G>A	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.736G>A	2.37:g.67630550G>A	ENSP00000272342:p.Glu246Lys					ETAA1_ENST00000462772.1_Intron	p.E246K	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	866	+			246					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.736G>A	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362680	0.11296	.	.	ENSG00000143971	ENST00000272342	T	0.22743	1.94	5.96	-0.382	0.12481	.	0.221863	0.39020	N	0.001482	T	0.15912	0.0383	L	0.49350	1.555	0.09310	N	1	B	0.24483	0.104	B	0.20384	0.029	T	0.15150	-1.0447	10	0.52906	T	0.07	-14.1731	6.5968	0.22679	0.332:0.1115:0.5565:0.0	.	246	Q9NY74	ETAA1_HUMAN	K	246	ENSP00000272342:E246K	ENSP00000272342:E246K	E	+	1	0	ETAA1	67484054	0.075000	0.21258	0.000000	0.03702	0.005000	0.04900	0.806000	0.27126	-0.079000	0.12707	-0.781000	0.03364	GAA		0.313	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		25	52	0	0	0	1	0	25	52				
SLC35F1	222553	broad.mit.edu	37	6	118475689	118475689	+	Silent	SNP	A	A	G	rs529939260		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118475689A>G	ENST00000360388.4	+	2	456	c.255A>G	c.(253-255)tcA>tcG	p.S85S		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	85					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AGTATCTGTCAGAAGATTTCC	0.443																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(253-255)tcA>tcG		solute carrier family 35, member F1							220.0	208.0	212.0					6																	118475689		2203	4300	6503	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118475689A>G	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.255A>G	6.37:g.118475689A>G							p.S85S	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	456	+			85					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.255A>G	CCDS34524.1																																																																																				0.443	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		9	141	0	0	0	1	0	9	141				
SLC35F1	222553	broad.mit.edu	37	6	118556698	118556698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118556698C>T	ENST00000360388.4	+	3	577	c.376C>T	c.(376-378)Cga>Tga	p.R126*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	126					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GGCAATTTTACGACGAAGATG	0.378																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(376-378)Cga>Tga		solute carrier family 35, member F1							110.0	105.0	107.0					6																	118556698		2203	4300	6503	SO:0001587	stop_gained	222553				transport	integral to membrane		g.chr6:118556698C>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.376C>T	6.37:g.118556698C>T	ENSP00000353557:p.Arg126*						p.R126*	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	3	577	+			126					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Nonsense_Mutation	SNP	ENST00000360388.4	37	c.376C>T	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307377	0.81247	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.78	3.72	0.42706	.	0.070983	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.4861	0.55874	0.5495:0.4505:0.0:0.0	.	.	.	.	X	126	.	ENSP00000353557:R126X	R	+	1	2	SLC35F1	118663391	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	6.381000	0.73163	1.567000	0.49668	-0.181000	0.13052	CGA		0.378	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		9	30	0	0	0	1	0	9	30				
BRCA2	675	broad.mit.edu	37	13	32971071	32971071	+	Missense_Mutation	SNP	C	C	T	rs200598289		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32971071C>T	ENST00000380152.3	+	26	9771	c.9538C>T	c.(9538-9540)Ctt>Ttt	p.L3180F	BRCA2_ENST00000544455.1_Missense_Mutation_p.L3180F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3180					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGAAAACAAGCTTATGCATAT	0.378			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18822	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9538-9540)Ctt>Ttt	Homologous recombination	breast cancer 2, early onset							199.0	196.0	197.0					13																	32971071		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32971071C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9538C>T	13.37:g.32971071C>T	ENSP00000369497:p.Leu3180Phe	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.L3180F	p.L3180F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	26	9765	+		Lung SC(185;0.0262)	3180					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.9538C>T	CCDS9344.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.87	3.715929	0.68844	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.84800	-1.9;-1.9	5.94	5.94	0.96194	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.78916	2.43	0.42281	D	0.992097	D	0.89917	1.0	D	0.97110	1.0	D	0.91743	0.5406	10	0.87932	D	0	.	10.571	0.45200	0.0:0.9094:0.0:0.0906	.	3180	P51587	BRCA2_HUMAN	F	3180	ENSP00000369497:L3180F;ENSP00000439902:L3180F	ENSP00000369497:L3180F	L	+	1	0	BRCA2	31869071	1.000000	0.71417	0.996000	0.52242	0.781000	0.44180	1.452000	0.35156	2.816000	0.96949	0.563000	0.77884	CTT		0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		79	130	0	0	0	1	0	79	130				
CSMD3	114788	broad.mit.edu	37	8	113246683	113246683	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113246683G>A	ENST00000297405.5	-	68	10895	c.10651C>T	c.(10651-10653)Cgc>Tgc	p.R3551C	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3551						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACATTAGGCGAGCTTCCTGG	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10651-10653)Cgc>Tgc		CUB and Sushi multiple domains 3							152.0	149.0	150.0					8																	113246683		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113246683G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10651C>T	8.37:g.113246683G>A	ENSP00000297405:p.Arg3551Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C	p.R3551C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			68	10895	-			3551					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10651C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773249	0.90108	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27720	1.97;1.97;2.0;1.65;1.99	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000004	T	0.51991	0.1707	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.79108	0.992;0.982;0.921	T	0.51772	-0.8663	10	0.72032	D	0.01	.	18.8461	0.92208	0.0:0.0:1.0:0.0	.	3382;3551;3511	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3511;3551;2821;3382;3481	ENSP00000345799:R3511C;ENSP00000297405:R3551C;ENSP00000341558:R2821C;ENSP00000412263:R3382C;ENSP00000343124:R3481C	ENSP00000297405:R3551C	R	-	1	0	CSMD3	113315859	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.757000	0.62213	2.690000	0.91761	0.655000	0.94253	CGC		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		28	63	0	0	0	1	0	28	63				
ANKRD13A	88455	broad.mit.edu	37	12	110451051	110451051	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110451051C>T	ENST00000261739.4	+	3	517	c.351C>T	c.(349-351)ctC>ctT	p.L117L	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	117						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AAAAAATTCTCGAGGTATCCA	0.468																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(349-351)ctC>ctT		ankyrin repeat domain 13A							87.0	75.0	79.0					12																	110451051		2203	4300	6503	SO:0001819	synonymous_variant	88455							g.chr12:110451051C>T	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.351C>T	12.37:g.110451051C>T						ANKRD13A_ENST00000550404.1_3'UTR	p.L117L	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			3	517	+			117					O60736	Silent	SNP	ENST00000261739.4	37	c.351C>T	CCDS9140.1																																																																																				0.468	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		16	33	0	0	0	1	0	16	33				
RXFP1	59350	broad.mit.edu	37	4	159533502	159533502	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:159533502C>A	ENST00000307765.5	+	8	919	c.668C>A	c.(667-669)tCt>tAt	p.S223Y	RXFP1_ENST00000448688.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000460056.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000343542.5_Missense_Mutation_p.S223Y|RXFP1_ENST00000470033.1_Missense_Mutation_p.S190Y	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	223					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.S223Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGACTAAATTCTCTTATTCTC	0.274																																						ENST00000307765.5																			1	Substitution - Missense(1)	p.S223Y(1)	large_intestine(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(667-669)tCt>tAt		relaxin/insulin-like family peptide receptor 1							62.0	58.0	59.0					4																	159533502		1786	4060	5846	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159533502C>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.668C>A	4.37:g.159533502C>A	ENSP00000303248:p.Ser223Tyr					RXFP1_ENST00000460056.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000343542.5_Missense_Mutation_p.S223Y|RXFP1_ENST00000448688.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000470033.1_Missense_Mutation_p.S190Y	p.S223Y	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	8	919	+	all_hematologic(180;0.24)	Renal(120;0.0854)	223					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.668C>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877169	0.72180	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;D;T	0.85258	3.43;3.43;4.09;-1.96;3.43	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91106	0.7200	M	0.73753	2.245	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.986;1.0;0.986;0.97;0.983;0.999;1.0;1.0;1.0	D;D;D;P;P;D;D;D;D	0.97110	0.921;0.999;0.921;0.819;0.871;0.993;0.996;1.0;1.0	D	0.91426	0.5162	10	0.72032	D	0.01	.	11.5346	0.50631	0.0:0.9161:0.0:0.0839	.	234;250;142;223;190;142;93;160;223	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;.;RXFP1_HUMAN	Y	142;223;142;223;190;93	ENSP00000423306:S142Y;ENSP00000303248:S223Y;ENSP00000414885:S142Y;ENSP00000345889:S223Y;ENSP00000420712:S190Y	ENSP00000303248:S223Y	S	+	2	0	RXFP1	159752952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.409000	0.59768	2.624000	0.88883	0.655000	0.94253	TCT		0.274	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		3	13	1	0	6.4e-05	1	6.95424e-05	3	13				
ADAMTS16	170690	broad.mit.edu	37	5	5262810	5262810	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:5262810G>T	ENST00000274181.7	+	18	2841	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	901	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGACCTGAAGTTTCAAGTAA	0.502																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2701-2703)aaG>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 16							102.0	107.0	105.0					5																	5262810		1970	4147	6117	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5262810G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2703G>T	5.37:g.5262810G>T	ENSP00000274181:p.Lys901Asn						p.K901N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			18	2841	+			901			TSP type-1 2.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2703G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.783436	0.00628	.	.	ENSG00000145536	ENST00000274181	T	0.61040	0.14	5.41	-1.08	0.09936	.	0.301114	0.29515	N	0.011931	T	0.23410	0.0566	N	0.11427	0.14	0.09310	N	0.999998	B;B	0.29341	0.242;0.002	B;B	0.21708	0.036;0.008	T	0.24048	-1.0171	10	0.06757	T	0.87	.	3.5397	0.07807	0.3236:0.0:0.2805:0.3959	.	901;901	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	N	901	ENSP00000274181:K901N	ENSP00000274181:K901N	K	+	3	2	ADAMTS16	5315810	0.001000	0.12720	0.001000	0.08648	0.403000	0.30841	-0.478000	0.06575	-0.038000	0.13624	-0.150000	0.13652	AAG		0.502	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		19	39	1	0	3.32936e-07	1	3.80431e-07	19	39				
GRIN2A	2903	broad.mit.edu	37	16	10274037	10274037	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:10274037C>T	ENST00000396573.2	-	3	541	c.232G>A	c.(232-234)Gac>Aac	p.D78N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D78N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D78N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	78					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCTTGGGGTCGGTGCGGTTC	0.667																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(232-234)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						96.0	93.0	94.0					16																	10274037		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274037C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.232G>A	16.37:g.10274037C>T	ENSP00000379818:p.Asp78Asn					GRIN2A_ENST00000404927.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D78N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D78N	p.D78N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	541	-			78					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.232G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064463	0.76187	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	L	0.48362	1.52	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.968	P;D;B	0.64321	0.734;0.924;0.252	D	0.90902	0.4769	9	.	.	.	.	16.2901	0.82747	0.0:1.0:0.0:0.0	.	78;78;78	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	78	ENSP00000379818:D78N;ENSP00000385872:D78N;ENSP00000332549:D78N;ENSP00000379820:D78N	.	D	-	1	0	GRIN2A	10181538	1.000000	0.71417	0.986000	0.45419	0.955000	0.61496	5.994000	0.70623	2.088000	0.63022	0.561000	0.74099	GAC		0.667	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			46	95	0	0	0	1	0	46	95				
C8orf76	84933	broad.mit.edu	37	8	124243893	124243893	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124243893C>A	ENST00000276704.4	-	4	513	c.462G>T	c.(460-462)caG>caT	p.Q154H	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q122H|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	154										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATCAGTTTCTGCAGGCAGA	0.443																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(460-462)caG>caT		chromosome 8 open reading frame 76							85.0	93.0	90.0					8																	124243893		2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124243893C>A	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.462G>T	8.37:g.124243893C>A	ENSP00000276704:p.Gln154His					C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q122H	p.Q154H	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	513	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		154					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.462G>T	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454916	0.43634	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	T;T	0.78003	-1.14;-1.14	5.74	1.39	0.22231	Tetratricopeptide-like helical (1);	0.049658	0.85682	N	0.000000	T	0.69557	0.3124	L	0.53780	1.695	0.39532	D	0.968673	B;B	0.32203	0.36;0.36	B;B	0.32022	0.139;0.139	T	0.66460	-0.5918	10	0.52906	T	0.07	-2.4691	9.0775	0.36531	0.0:0.6793:0.1107:0.21	.	122;154	Q96EF9;Q96K31	.;CH076_HUMAN	H	154;122	ENSP00000276704:Q154H;ENSP00000349593:Q122H	ENSP00000276704:Q154H	Q	-	3	2	C8orf76	124313074	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.777000	0.26718	0.350000	0.24002	-0.150000	0.13652	CAG		0.443	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		44	86	1	0	2.24893e-16	1	2.99237e-16	44	86				
TRAPPC8	22878	broad.mit.edu	37	18	29487555	29487555	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29487555T>G	ENST00000283351.4	-	9	1592	c.1257A>C	c.(1255-1257)ccA>ccC	p.P419P	TRAPPC8_ENST00000582539.1_Silent_p.P365P|TRAPPC8_ENST00000582513.1_Silent_p.P419P	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	419					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTGAAGTTCTGGTGCTTCCG	0.328																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1255-1257)ccA>ccC		trafficking protein particle complex 8							62.0	62.0	62.0					18																	29487555		2203	4300	6503	SO:0001819	synonymous_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29487555T>G	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1257A>C	18.37:g.29487555T>G						TRAPPC8_ENST00000582513.1_Silent_p.P419P|TRAPPC8_ENST00000582539.1_Silent_p.P365P	p.P419P	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			9	1592	-			419					A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	c.1257A>C	CCDS11901.1																																																																																				0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		19	16	0	0	0	1	0	19	16				
BEX2	84707	broad.mit.edu	37	X	102564538	102564538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102564538C>A	ENST00000372677.3	-	3	634	c.367G>T	c.(367-369)Gag>Tag	p.E123*	BEX2_ENST00000372674.1_Nonsense_Mutation_p.E123*|BEX2_ENST00000536889.1_Nonsense_Mutation_p.E155*	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	123					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						AGGCAAAACTCATCGTGATGG	0.483																																						ENST00000536889.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(463-465)Gag>Tag		brain expressed X-linked 2							185.0	157.0	166.0					X																	102564538		2203	4300	6503	SO:0001587	stop_gained	84707				apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus		g.chrX:102564538C>A	BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.367G>T	X.37:g.102564538C>A	ENSP00000361762:p.Glu123*					BEX2_ENST00000372674.1_Nonsense_Mutation_p.E123*|BEX2_ENST00000372677.3_Nonsense_Mutation_p.E123*	p.E155*	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN			3	820	-			123					B2R574|D3DXA2|F5H7H5|Q5JVV9	Nonsense_Mutation	SNP	ENST00000372677.3	37	c.463G>T	CCDS14505.1	.	.	.	.	.	.	.	.	.	.	C	37	6.231051	0.97394	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674	.	.	.	4.29	4.29	0.51040	.	0.000000	0.47852	D	0.000201	.	.	.	.	.	.	0.29372	N	0.863946	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.106	0.48203	0.0:1.0:0.0:0.0	.	.	.	.	X	123;155;123	.	ENSP00000361759:E123X	E	-	1	0	BEX2	102451194	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.725000	0.47294	2.388000	0.81334	0.600000	0.82982	GAG		0.483	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057702.1	NM_032621		67	98	1	0	1.08241e-25	1	1.52617e-25	67	98				
FBXL5	26234	broad.mit.edu	37	4	15642453	15642453	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:15642453A>C	ENST00000341285.3	-	3	478	c.354T>G	c.(352-354)gcT>gcG	p.A118A	FBXL5_ENST00000382358.4_5'UTR|FBXL5_ENST00000412094.2_Silent_p.A101A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	118	Hemerythrin-like.				iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTCTTGTAAAAGCCTCCAATC	0.279																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(352-354)gcT>gcG		F-box and leucine-rich repeat protein 5							74.0	82.0	79.0					4																	15642453		2203	4294	6497	SO:0001819	synonymous_variant	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15642453A>C	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.354T>G	4.37:g.15642453A>C						FBXL5_ENST00000412094.2_Silent_p.A101A|FBXL5_ENST00000382358.4_5'UTR	p.A118A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			3	478	-			118			Hemerythrin-like.		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Silent	SNP	ENST00000341285.3	37	c.354T>G	CCDS3415.1																																																																																				0.279	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			7	27	0	0	0	1	0	7	27				
FAT1	2195	broad.mit.edu	37	4	187509932	187509932	+	Silent	SNP	G	G	A	rs373825887		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187509932G>A	ENST00000441802.2	-	27	13790	c.13581C>T	c.(13579-13581)ttC>ttT	p.F4527F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4527					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGGCGCCTCGAAGTGTCTTT	0.562										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(13579-13581)ttC>ttT		FAT atypical cadherin 1		G		1,4127		0,1,2063	60.0	70.0	66.0		13581	-5.7	0.0	4		66	1,8409		0,1,4204	no	coding-synonymous	FAT1	NM_005245.3		0,2,6267	AA,AG,GG		0.0119,0.0242,0.016		4527/4589	187509932	2,12536	2064	4205	6269	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187509932G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13581C>T	4.37:g.187509932G>A		HNSCC(5;0.00058)					p.F4527F	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			27	13790	-			4527						Silent	SNP	ENST00000441802.2	37	c.13581C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484515	0.01027	2.42E-4	1.19E-4	ENSG00000083857	ENST00000512772	.	.	.	5.37	-5.68	0.02436	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1858	0.31337	0.382:0.2099:0.4081:0.0	.	.	.	.	X	307	.	.	R	-	1	2	FAT1	187746926	0.924000	0.31332	0.028000	0.17463	0.010000	0.07245	0.155000	0.16362	-1.778000	0.01282	-2.039000	0.00418	CGA		0.562	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		25	39	0	0	0	1	0	25	39				
ACE2	59272	broad.mit.edu	37	X	15589793	15589793	+	Missense_Mutation	SNP	G	G	C	rs145437639	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15589793G>C	ENST00000252519.3	-	13	1893	c.1791C>G	c.(1789-1791)gaC>gaG	p.D597E	ACE2_ENST00000427411.1_Missense_Mutation_p.D597E			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	597					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TCTTGTTCTGGTCTTTCAGCC	0.453																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(1789-1791)gaC>gaG		angiotensin I converting enzyme 2	Moexipril(DB00691)						191.0	172.0	178.0					X																	15589793		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15589793G>C	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1791C>G	X.37:g.15589793G>C	ENSP00000252519:p.Asp597Glu					ACE2_ENST00000252519.3_Missense_Mutation_p.D597E	p.D597E	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			14	2007	-	Hepatocellular(33;0.183)		597					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.1791C>G	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	G	0.217	-1.032085	0.02029	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.27104	1.69;1.69	5.71	-11.4	0.00090	.	0.688403	0.14733	N	0.301659	T	0.04182	0.0116	N	0.00500	-1.43	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.21930	-1.0231	10	0.02654	T	1	-0.0455	12.2858	0.54791	0.0513:0.528:0.1212:0.2995	.	597	Q9BYF1	ACE2_HUMAN	E	597	ENSP00000252519:D597E;ENSP00000389326:D597E	ENSP00000252519:D597E	D	-	3	2	ACE2	15499714	0.000000	0.05858	0.001000	0.08648	0.967000	0.64934	-1.849000	0.01672	-4.408000	0.00051	-1.003000	0.02500	GAC		0.453	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			43	85	0	0	0	1	0	43	85				
FREM2	341640	broad.mit.edu	37	13	39264612	39264612	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39264612G>A	ENST00000280481.7	+	1	3347	c.3131G>A	c.(3130-3132)aGa>aAa	p.R1044K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1044					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1044I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAGAATGGAGAATTGGTGGC	0.448																																						ENST00000280481.7																			1	Substitution - Missense(1)	p.R1044I(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3130-3132)aGa>aAa		FRAS1 related extracellular matrix protein 2							126.0	127.0	126.0					13																	39264612		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264612G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3131G>A	13.37:g.39264612G>A	ENSP00000280481:p.Arg1044Lys						p.R1044K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3347	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1044					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3131G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	4.646	0.120088	0.08881	.	.	ENSG00000150893	ENST00000280481	T	0.18174	2.23	5.79	1.81	0.25067	.	0.384244	0.29046	N	0.013314	T	0.09598	0.0236	L	0.44542	1.39	0.09310	N	1	B	0.13594	0.008	B	0.17098	0.017	T	0.36065	-0.9763	10	0.06891	T	0.86	.	1.9097	0.03284	0.1495:0.342:0.2519:0.2566	.	1044	Q5SZK8	FREM2_HUMAN	K	1044	ENSP00000280481:R1044K	ENSP00000280481:R1044K	R	+	2	0	FREM2	38162612	0.000000	0.05858	0.893000	0.35052	0.450000	0.32258	-0.083000	0.11286	0.332000	0.23536	-0.145000	0.13849	AGA		0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		12	118	0	0	0	1	0	12	118				
SLC24A2	25769	broad.mit.edu	37	9	19576994	19576994	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19576994G>T	ENST00000341998.2	-	5	1217	c.1156C>A	c.(1156-1158)Ctc>Atc	p.L386I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L369I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	386					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATCTTGTGGAGAATTGAAGCC	0.502																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1156-1158)Ctc>Atc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							192.0	164.0	173.0					9																	19576994		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19576994G>T	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1156C>A	9.37:g.19576994G>T	ENSP00000344801:p.Leu386Ile					SLC24A2_ENST00000286344.3_Missense_Mutation_p.L369I	p.L386I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	5	1217	-			386					B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1156C>A	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665627	0.67700	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.78126	-1.06;-1.15	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.82815	0.5119	M	0.77313	2.365	0.80722	D	1	B;B	0.27971	0.191;0.196	B;B	0.39152	0.292;0.213	T	0.78802	-0.2061	9	.	.	.	.	18.8624	0.92278	0.0:0.0:1.0:0.0	.	369;386	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	I	386;369	ENSP00000344801:L386I;ENSP00000286344:L369I	.	L	-	1	0	SLC24A2	19566994	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.210000	0.89753	2.755000	0.94549	0.591000	0.81541	CTC		0.502	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		38	55	1	0	2.40579e-17	1	3.22781e-17	38	55				
SHROOM2	357	broad.mit.edu	37	X	9862500	9862500	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:9862500C>A	ENST00000380913.3	+	4	642	c.552C>A	c.(550-552)ccC>ccA	p.P184P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	184					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGACCACCCCTCCAGTCGCC	0.622																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(550-552)ccC>ccA		shroom family member 2							73.0	60.0	65.0					X																	9862500		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9862500C>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.552C>A	X.37:g.9862500C>A							p.P184P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	642	+		Hepatocellular(5;0.000888)	184					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.552C>A	CCDS14135.1																																																																																				0.622	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		23	44	1	0	3.8784e-16	1	5.13982e-16	23	44				
RHOG	391	broad.mit.edu	37	11	3849145	3849145	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:3849145G>T	ENST00000351018.4	-	2	381	c.224C>A	c.(223-225)aCc>aAc	p.T75N	RHOG_ENST00000396978.1_Missense_Mutation_p.T75N|RHOG_ENST00000533217.1_Missense_Mutation_p.T75N|RHOG_ENST00000396979.1_Missense_Mutation_p.T75N	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	75					actin cytoskeleton organization (GO:0030036)|activation of Rac GTPase activity (GO:0032863)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|GTP catabolic process (GO:0006184)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of transcription, DNA-templated (GO:0045893)|Rac protein signal transduction (GO:0016601)|regulation of ruffle assembly (GO:1900027)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		GAAAACGTTGGTCTGAGGGTA	0.597																																						ENST00000351018.4																			0				endometrium(2)	2						c.(223-225)aCc>aAc		ras homolog family member G							87.0	71.0	76.0					11																	3849145		2201	4298	6499	SO:0001583	missense	391				actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:3849145G>T	X61587	CCDS7748.1	11p15.5-p15.4	2012-02-27	2012-02-27	2004-03-24	ENSG00000177105	ENSG00000177105			672	protein-coding gene	gene with protein product		179505	"""ras homolog gene family, member G (rho G)"""	ARHG		8325658	Standard	NM_001665		Approved	RhoG, MGC125835, MGC125836	uc001lyu.2	P84095	OTTHUMG00000012287	ENST00000351018.4:c.224C>A	11.37:g.3849145G>T	ENSP00000339467:p.Thr75Asn					RHOG_ENST00000533217.1_Missense_Mutation_p.T75N|RHOG_ENST00000396978.1_Missense_Mutation_p.T75N|RHOG_ENST00000396979.1_Missense_Mutation_p.T75N	p.T75N	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	381	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	75					P35238|Q8NI04	Missense_Mutation	SNP	ENST00000351018.4	37	c.224C>A	CCDS7748.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340882	0.81911	.	.	ENSG00000177105	ENST00000351018;ENST00000396979;ENST00000396978;ENST00000533217	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90147	0.6921	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93143	0.6543	10	0.87932	D	0	.	17.5078	0.87750	0.0:0.0:1.0:0.0	.	75	P84095	RHOG_HUMAN	N	75	ENSP00000339467:T75N;ENSP00000380176:T75N;ENSP00000380175:T75N;ENSP00000436932:T75N	ENSP00000339467:T75N	T	-	2	0	RHOG	3805721	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.724000	0.93272	0.563000	0.77884	ACC		0.597	RHOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034125.2	NM_001665		20	54	1	0	0.000175454	1	0.000188314	20	54				
HCFC1	3054	broad.mit.edu	37	X	153227718	153227718	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153227718G>A	ENST00000310441.7	-	5	1718	c.752C>T	c.(751-753)gCg>gTg	p.A251V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A251V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A251V|HCFC1_ENST00000461098.1_5'UTR	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	251					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAGGCGCCACCCCGCT	0.597																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(751-753)gCg>gTg		host cell factor C1 (VP16-accessory protein)							60.0	61.0	61.0					X																	153227718		2118	4200	6318	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153227718G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.752C>T	X.37:g.153227718G>A	ENSP00000309555:p.Ala251Val					HCFC1_ENST00000354233.3_Missense_Mutation_p.A251V|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Missense_Mutation_p.A251V	p.A251V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			5	1718	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		251					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.752C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620880	0.87460	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.66099	-0.19;-0.19;0.96	5.61	5.61	0.85477	Kelch-type beta propeller (1);	0.049249	0.85682	D	0.000000	T	0.49575	0.1565	N	0.11427	0.14	0.80722	D	1	P	0.35468	0.503	B	0.39590	0.304	T	0.54886	-0.8226	10	0.46703	T	0.11	.	17.3027	0.87186	0.0:0.0:1.0:0.0	.	251	P51610	HCFC1_HUMAN	V	251	ENSP00000309555:A251V;ENSP00000359001:A251V;ENSP00000346174:A251V	ENSP00000309555:A251V	A	-	2	0	HCFC1	152880912	1.000000	0.71417	0.912000	0.35992	0.951000	0.60555	4.498000	0.60373	2.353000	0.79882	0.529000	0.55759	GCG		0.597	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		13	20	0	0	0	1	0	13	20				
SYT4	6860	broad.mit.edu	37	18	40851677	40851677	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:40851677C>A	ENST00000255224.3	-	3	1338	c.970G>T	c.(970-972)Gat>Tat	p.D324Y	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Splice_Site_p.D306Y	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	324	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GCATTCTTACCTGAAAGTCCG	0.393																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.e3+1		synaptotagmin IV							111.0	106.0	108.0					18																	40851677		2203	4300	6503	SO:0001630	splice_region_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40851677C>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.970+1G>T	18.37:g.40851677C>A						SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Splice_Site_p.D306_splice	p.D324_splice	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			3	1338	-			324			C2 2.		B4DEU3|Q9P2K4	Splice_Site	SNP	ENST00000255224.3	37	c.970_splice	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157677	0.94686	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.81078	-1.45	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	H	0.97214	3.96	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.969	D	0.95415	0.8502	9	.	.	.	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	306;324	B4DEU3;Q9H2B2	.;SYT4_HUMAN	Y	324;129	ENSP00000255224:D324Y	.	D	-	1	0	SYT4	39105675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.512000	0.81728	2.765000	0.95021	0.650000	0.86243	GAT		0.393	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	Missense_Mutation	16	35	1	0	1.15088e-07	1	1.32965e-07	16	35				
DLGAP5	9787	broad.mit.edu	37	14	55629731	55629731	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55629731G>T	ENST00000247191.2	-	13	1827	c.1611C>A	c.(1609-1611)gtC>gtA	p.V537V	DLGAP5_ENST00000395425.2_Silent_p.V537V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	537					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TATTATTATTGACTTGCCACC	0.294																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1609-1611)gtC>gtA		discs, large (Drosophila) homolog-associated protein 5							90.0	91.0	91.0					14																	55629731		2203	4292	6495	SO:0001819	synonymous_variant	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55629731G>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1611C>A	14.37:g.55629731G>T						DLGAP5_ENST00000395425.2_Silent_p.V537V	p.V537V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			13	1827	-			537					A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	ENST00000247191.2	37	c.1611C>A	CCDS9723.1																																																																																				0.294	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		11	17	1	0	5.50884e-06	1	6.10489e-06	11	17				
AHNAK	79026	broad.mit.edu	37	11	62290081	62290081	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62290081T>C	ENST00000378024.4	-	5	12082	c.11808A>G	c.(11806-11808)aaA>aaG	p.K3936K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3936					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTTGGGCATTTTTATCTTAG	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11806-11808)aaA>aaG		AHNAK nucleoprotein							227.0	241.0	236.0					11																	62290081		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62290081T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11808A>G	11.37:g.62290081T>C						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K3936K	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12082	-		Melanoma(852;0.155)	3936					A1A586	Silent	SNP	ENST00000378024.4	37	c.11808A>G	CCDS31584.1																																																																																				0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		137	212	0	0	0	1	0	137	212				
TBC1D8B	54885	broad.mit.edu	37	X	106116961	106116961	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106116961C>A	ENST00000357242.5	+	21	3303	c.3129C>A	c.(3127-3129)ttC>ttA	p.F1043L	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.F1037L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1043							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAAAGGATTCTCTGGTACTG	0.453																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3127-3129)ttC>ttA		TBC1 domain family, member 8B (with GRAM domain)							124.0	118.0	120.0					X																	106116961		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106116961C>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.3129C>A	X.37:g.106116961C>A	ENSP00000349781:p.Phe1043Leu					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.F1037L	p.F1043L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			21	3303	+			1043					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.3129C>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.496973	0.01001	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.06849	3.25;3.25	5.34	1.38	0.22167	.	1.315610	0.05008	N	0.470344	T	0.06188	0.0160	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43782	-0.9370	10	0.22706	T	0.39	3.3913	5.0105	0.14310	0.1368:0.3546:0.4252:0.0835	.	1043	Q0IIM8	TBC8B_HUMAN	L	1043;1037	ENSP00000349781:F1043L;ENSP00000276175:F1037L	ENSP00000276175:F1037L	F	+	3	2	TBC1D8B	106003617	0.000000	0.05858	0.014000	0.15608	0.226000	0.24999	-0.580000	0.05827	-0.080000	0.12685	0.594000	0.82650	TTC		0.453	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		35	82	1	0	9.8876e-21	1	1.35804e-20	35	82				
CAPN7	23473	broad.mit.edu	37	3	15275456	15275456	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:15275456A>C	ENST00000253693.2	+	11	1515	c.1262A>C	c.(1261-1263)aAt>aCt	p.N421T		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	421	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGTAAGGATAATTCTTTCAGA	0.383																																						ENST00000253693.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						c.(1261-1263)aAt>aCt		calpain 7							109.0	106.0	107.0					3																	15275456		2203	4300	6503	SO:0001583	missense	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15275456A>C	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1262A>C	3.37:g.15275456A>C	ENSP00000253693:p.Asn421Thr						p.N421T	NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN			11	1515	+			421			Calpain catalytic.			Missense_Mutation	SNP	ENST00000253693.2	37	c.1262A>C	CCDS2624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.279|9.279	1.047557|1.047557	0.19827|0.19827	.|.	.|.	ENSG00000131375|ENSG00000131375	ENST00000253693|ENST00000415565	D|.	0.89050|.	-2.46|.	5.18|5.18	-3.64|-3.64	0.04515|0.04515	Peptidase C2, calpain, catalytic domain (3);|.	0.447683|.	0.27455|.	N|.	0.019292|.	T|.	0.26412|.	0.0645|.	N|N	0.13098|0.13098	0.295|0.295	0.30631|0.30631	N|N	0.757447|0.757447	B|.	0.09022|.	0.002|.	B|.	0.19666|.	0.026|.	T|.	0.35992|.	-0.9766|.	10|.	0.29301|.	T|.	0.29|.	-11.0361|-11.0361	13.3254|13.3254	0.60457|0.60457	0.2867:0.0:0.7133:0.0|0.2867:0.0:0.7133:0.0	.|.	421|.	Q9Y6W3|.	CAN7_HUMAN|.	T|Y	421|158	ENSP00000253693:N421T|.	ENSP00000253693:N421T|.	N|X	+|+	2|3	0|2	CAPN7|CAPN7	15250460|15250460	0.892000|0.892000	0.30473|0.30473	0.920000|0.920000	0.36463|0.36463	0.995000|0.995000	0.86356|0.86356	0.451000|0.451000	0.21779|0.21779	-0.463000|-0.463000	0.06973|0.06973	-0.263000|-0.263000	0.10527|0.10527	AAT|TAA		0.383	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		19	32	0	0	0	1	0	19	32				
OR5C1	392391	broad.mit.edu	37	9	125551852	125551852	+	Missense_Mutation	SNP	C	C	T	rs112939157	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125551852C>T	ENST00000373680.2	+	1	703	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	214						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)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CAGACAGCCACGGTGTTAGCT	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		22338	0.0		0.0	False		,,,				2504	0.002					ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(640-642)aCg>aTg		olfactory receptor, family 5, subfamily C, member 1							82.0	78.0	79.0					9																	125551852		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551852C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.641C>T	9.37:g.125551852C>T	ENSP00000362784:p.Thr214Met						p.T214M	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	703	+			214					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.641C>T	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612361	0.28712	.	.	ENSG00000148215	ENST00000373680	T	0.37915	1.17	5.26	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37483	U	0.002075	T	0.44705	0.1306	M	0.86740	2.835	0.28547	N	0.911799	B	0.20988	0.05	B	0.20384	0.029	T	0.51317	-0.8721	10	0.87932	D	0	.	11.452	0.50158	0.0:0.916:0.0:0.084	.	214	Q8NGR4	OR5C1_HUMAN	M	214	ENSP00000362784:T214M	ENSP00000362784:T214M	T	+	2	0	OR5C1	124591673	0.004000	0.15560	0.888000	0.34837	0.213000	0.24496	0.471000	0.22100	1.463000	0.47967	-0.126000	0.14955	ACG		0.577	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			22	36	0	0	0	1	0	22	36				
ECD	11319	broad.mit.edu	37	10	74916109	74916109	+	Missense_Mutation	SNP	T	T	G	rs373804811		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74916109T>G	ENST00000372979.4	-	5	720	c.514A>C	c.(514-516)Aat>Cat	p.N172H	ECD_ENST00000610256.1_5'Flank|ECD_ENST00000454759.2_Missense_Mutation_p.N172H|ECD_ENST00000430082.2_Missense_Mutation_p.N172H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	172					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GTGATTATATTCAATGCTTGT	0.403																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(514-516)Aat>Cat		ecdysoneless homolog (Drosophila)							140.0	137.0	138.0					10																	74916109		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74916109T>G	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.514A>C	10.37:g.74916109T>G	ENSP00000362070:p.Asn172His					ECD_ENST00000430082.1_Missense_Mutation_p.N172H|ECD_ENST00000454759.1_Missense_Mutation_p.N172H	p.N172H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			5	720	-	Prostate(51;0.0119)		172					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.514A>C	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	T	3.262	-0.150910	0.06585	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402;ENST00000413026	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	6.02	-2.45	0.06481	.	0.773922	0.13194	N	0.406500	T	0.07413	0.0187	N	0.16903	0.455	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.27400	-1.0075	10	0.45353	T	0.12	-12.5433	2.0813	0.03635	0.1301:0.2282:0.402:0.2398	.	172;172;172	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	H	172;172;172;98;146	ENSP00000362070:N172H;ENSP00000401566:N172H;ENSP00000395786:N172H;ENSP00000391367:N98H;ENSP00000416288:N146H	ENSP00000362070:N172H	N	-	1	0	ECD	74586115	0.000000	0.05858	0.250000	0.24296	0.111000	0.19643	-0.435000	0.06931	0.145000	0.18977	-0.291000	0.09656	AAT		0.403	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		32	36	0	0	0	1	0	32	36				
PIWIL4	143689	broad.mit.edu	37	11	94310616	94310616	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94310616C>T	ENST00000299001.6	+	4	682	c.471C>T	c.(469-471)ttC>ttT	p.F157F	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	157					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAAAAGCATTCGACGGTGCCA	0.343																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(469-471)ttC>ttT		piwi-like RNA-mediated gene silencing 4							74.0	74.0	74.0					11																	94310616		2201	4298	6499	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94310616C>T	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.471C>T	11.37:g.94310616C>T						RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.F157F	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			4	682	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	157					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.471C>T	CCDS31656.1																																																																																				0.343	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		15	21	0	0	0	1	0	15	21				
DKK1	22943	broad.mit.edu	37	10	54076160	54076160	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:54076160G>T	ENST00000373970.3	+	3	651	c.512G>T	c.(511-513)aGa>aTa	p.R171I	PRKG1-AS1_ENST00000420193.1_RNA|DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	171					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TATTCCAGAAGAACCACCTTG	0.373																																						ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(511-513)aGa>aTa		dickkopf WNT signaling pathway inhibitor 1							96.0	89.0	91.0					10																	54076160		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076160G>T		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.512G>T	10.37:g.54076160G>T	ENSP00000363081:p.Arg171Ile					DKK1_ENST00000467359.1_3'UTR	p.R171I	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			3	651	+			171					B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.512G>T	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763314	0.31228	.	.	ENSG00000107984	ENST00000373970	T	0.48522	0.81	5.82	5.82	0.92795	.	0.242826	0.44902	D	0.000410	T	0.63153	0.2487	L	0.52573	1.65	0.58432	D	0.999996	D	0.76494	0.999	D	0.66196	0.942	T	0.61758	-0.6997	10	0.54805	T	0.06	-0.967	17.5868	0.87983	0.0:0.0:1.0:0.0	.	171	O94907	DKK1_HUMAN	I	171	ENSP00000363081:R171I	ENSP00000363081:R171I	R	+	2	0	DKK1	53746166	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	3.505000	0.53356	2.756000	0.94617	0.561000	0.74099	AGA		0.373	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			4	47	1	0	1.23904e-05	1	1.36503e-05	4	47				
FBXW11	23291	broad.mit.edu	37	5	171326969	171326969	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:171326969C>T	ENST00000265094.5	-	4	646	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.R136Q|FBXW11_ENST00000296933.6_Missense_Mutation_p.R157Q|FBXW11_ENST00000425623.2_Missense_Mutation_p.R138Q	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	170					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R170Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCGTACCATTCGTTCAATCAG	0.448																																						ENST00000296933.6																			1	Substitution - Missense(1)	p.R170Q(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(469-471)cGa>cAa		F-box and WD repeat domain containing 11							220.0	211.0	214.0					5																	171326969		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171326969C>T	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.509G>A	5.37:g.171326969C>T	ENSP00000265094:p.Arg170Gln					FBXW11_ENST00000265094.5_Missense_Mutation_p.R170Q|FBXW11_ENST00000425623.2_Missense_Mutation_p.R138Q|FBXW11_ENST00000393802.2_Missense_Mutation_p.R136Q|FBXW11_ENST00000522891.1_5'UTR	p.R157Q	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	840	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	170			F-box.		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.470G>A	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017809	0.93404	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623;ENST00000517395	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	4.94	4.94	0.65067	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	L	0.61036	1.89	0.80722	D	1	P;D;D;P	0.63046	0.612;0.991;0.992;0.743	B;P;P;B	0.59115	0.2;0.709;0.852;0.261	T	0.34576	-0.9823	10	0.45353	T	0.12	-7.3454	18.1307	0.89600	0.0:1.0:0.0:0.0	.	138;136;170;157	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	Q	157;170;136;138;191	ENSP00000296933:R157Q;ENSP00000265094:R170Q;ENSP00000377391:R136Q;ENSP00000444929:R138Q;ENSP00000428753:R191Q	ENSP00000265094:R170Q	R	-	2	0	FBXW11	171259574	0.997000	0.39634	0.957000	0.39632	0.984000	0.73092	7.771000	0.85420	2.441000	0.82636	0.462000	0.41574	CGA		0.448	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		73	108	0	0	0	1	0	73	108				
FASN	2194	broad.mit.edu	37	17	80049219	80049219	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80049219G>A	ENST00000306749.2	-	9	1589	c.1371C>T	c.(1369-1371)atC>atT	p.I457I		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	457	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGACAGCCGCGATGTCGTTCA	0.711																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(1369-1371)atC>atT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						16.0	20.0	19.0					17																	80049219		2184	4281	6465	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80049219G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1371C>T	17.37:g.80049219G>A							p.I457I	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		9	1589	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		457			Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.1371C>T	CCDS11801.1																																																																																				0.711	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		6	16	0	0	0	1	0	6	16				
RPSA	3921	broad.mit.edu	37	3	39449160	39449160	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39449160G>A	ENST00000301821.6	+	2	125	c.16G>A	c.(16-18)Gat>Aat	p.D6N	RPSA_ENST00000443003.1_Missense_Mutation_p.D6N|SNORA6_ENST00000384033.1_RNA	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		Cggagcccttgatgtcctgca	0.438																																						ENST00000301821.6																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(16-18)Gat>Aat		ribosomal protein SA							48.0	58.0	55.0					3																	39449160		1361	2316	3677	SO:0001583	missense	3921				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr3:39449160G>A	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"""laminin receptor 1 (67kD, ribosomal protein SA)"""	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.16G>A	3.37:g.39449160G>A	ENSP00000346067:p.Asp6Asn					RPSA_ENST00000443003.1_Missense_Mutation_p.D6N	p.D6N	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	2	125	+			6						Missense_Mutation	SNP	ENST00000301821.6	37	c.16G>A	CCDS2686.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.082296	0.76528	.	.	ENSG00000168028	ENST00000301821;ENST00000458478;ENST00000443003	T;T;T	0.48836	0.81;0.89;0.8	4.8	4.8	0.61643	.	0.000000	0.85682	U	0.000000	T	0.53222	0.1783	M	0.84219	2.685	0.58432	D	0.999999	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.15870	0.008;0.008;0.014	T	0.55159	-0.8184	10	0.41790	T	0.15	.	15.7246	0.77743	0.0:0.0:1.0:0.0	.	6;6;6	C9J9K3;C9JQR9;P08865	.;.;RSSA_HUMAN	N	6	ENSP00000346067:D6N;ENSP00000410848:D6N;ENSP00000389351:D6N	ENSP00000346067:D6N	D	+	1	0	RPSA	39424164	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.479000	0.97929	2.378000	0.81104	0.561000	0.74099	GAT		0.438	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	NM_002295		24	23	0	0	0	1	0	24	23				
DST	667	broad.mit.edu	37	6	56417403	56417403	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56417403G>T	ENST00000361203.3	-	57	15561	c.15554C>A	c.(15553-15555)tCt>tAt	p.S5185Y	DST_ENST00000370769.4_Missense_Mutation_p.S5187Y|DST_ENST00000421834.2_Missense_Mutation_p.S3099Y|DST_ENST00000370788.2_Missense_Mutation_p.S3099Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S2773Y|DST_ENST00000446842.2_Missense_Mutation_p.S4861Y|DST_ENST00000370754.5_Missense_Mutation_p.S5365Y			Q03001	DYST_HUMAN	dystonin	5185					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCGAACTGAGAAAACATTTC	0.408																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16093-16095)tCt>tAt		dystonin							59.0	55.0	57.0					6																	56417403		1869	4104	5973	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417403G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15554C>A	6.37:g.56417403G>T	ENSP00000354508:p.Ser5185Tyr					DST_ENST00000361203.3_Missense_Mutation_p.S5185Y|DST_ENST00000244364.6_Missense_Mutation_p.S2773Y|DST_ENST00000446842.2_Missense_Mutation_p.S4861Y|DST_ENST00000370769.4_Missense_Mutation_p.S5187Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S3099Y|DST_ENST00000370788.2_Missense_Mutation_p.S3099Y	p.S5365Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	16093	-	Lung NSC(77;0.103)		5185					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.16094C>A		.	.	.	.	.	.	.	.	.	.	G	17.86	3.491872	0.64074	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21	6.17	6.17	0.99709	.	0.116346	0.39020	N	0.001483	T	0.59770	0.2218	M	0.78801	2.425	0.28106	N	0.931185	D;D;D;D;D	0.89917	0.999;0.997;0.999;0.979;1.0	D;D;D;P;D	0.83275	0.996;0.947;0.973;0.642;0.976	T	0.58967	-0.7542	9	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	3099;5187;5365;5185;2773	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Y	2773;5365;5187;3099;4861;3099;5185	ENSP00000244364:S2773Y;ENSP00000359790:S5365Y;ENSP00000359805:S5187Y;ENSP00000400883:S3099Y;ENSP00000393645:S4861Y;ENSP00000359824:S3099Y;ENSP00000354508:S5185Y	ENSP00000244364:S2773Y	S	-	2	0	DST	56525362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.686000	0.74548	2.941000	0.99782	0.655000	0.94253	TCT		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		15	16	1	0	0.000219431	1	0.000235335	15	16				
TBC1D32	221322	broad.mit.edu	37	6	121577399	121577399	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:121577399G>A	ENST00000398212.2	-	16	1815	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	TBC1D32_ENST00000275159.6_Missense_Mutation_p.S589L	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	589					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AAGTTTTTTCGAAAACTGGGC	0.338																																						ENST00000275159.6																			0											c.(1765-1767)tCg>tTg		TBC1 domain family, member 32							44.0	39.0	41.0					6																	121577399		1803	4080	5883	SO:0001583	missense	221322							g.chr6:121577399G>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1766C>T	6.37:g.121577399G>A	ENSP00000381270:p.Ser589Leu					TBC1D32_ENST00000398212.2_Missense_Mutation_p.S589L	p.S589L							16	1765	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.1766C>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068718	0.55539	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.20200	2.09;2.09	5.21	5.21	0.72293	.	0.141503	0.45606	D	0.000358	T	0.10294	0.0252	L	0.35723	1.085	0.39253	D	0.964061	B;B	0.17268	0.002;0.021	B;B	0.09377	0.003;0.004	T	0.05989	-1.0852	10	0.27082	T	0.32	-20.1922	19.1152	0.93336	0.0:0.0:1.0:0.0	.	589;589	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	L	589	ENSP00000275159:S589L;ENSP00000381270:S589L	ENSP00000275159:S589L	S	-	2	0	C6orf170	121619098	1.000000	0.71417	0.941000	0.38009	0.862000	0.49288	4.221000	0.58574	2.575000	0.86900	0.655000	0.94253	TCG		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		11	16	0	0	0	1	0	11	16				
JMJD1C	221037	broad.mit.edu	37	10	64966708	64966708	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64966708G>T	ENST00000399262.2	-	10	4939	c.4721C>A	c.(4720-4722)tCt>tAt	p.S1574Y	JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1355Y|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1355Y|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1392Y	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1574					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCTGATACAGAATTCCCTGA	0.318																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4720-4722)tCt>tAt		jumonji domain containing 1C							78.0	72.0	73.0					10																	64966708		1806	4075	5881	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64966708G>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4721C>A	10.37:g.64966708G>T	ENSP00000382204:p.Ser1574Tyr					JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1355Y|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1392Y|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1355Y	p.S1574Y	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	4939	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1574					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.4721C>A	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.319687|2.319687	0.41096|0.41096	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.|T;T;T;T	.|0.56444	.|0.81;0.46;2.33;0.81	5.45|5.45	3.45|3.45	0.39498|0.39498	.|.	.|0.427699	.|0.26715	.|N	.|0.022867	T|T	0.56688|0.56688	0.2002|0.2002	L|L	0.47716|0.47716	1.5|1.5	0.35483|0.35483	D|D	0.798347|0.798347	.|P;P;P	.|0.50710	.|0.938;0.938;0.938	.|P;P;P	.|0.50617	.|0.646;0.646;0.646	T|T	0.71481|0.71481	-0.4580|-0.4580	5|10	.|0.66056	.|D	.|0.02	-6.6675|-6.6675	16.0081|16.0081	0.80377|0.80377	0.0:0.3646:0.6354:0.0|0.0:0.3646:0.6354:0.0	.|.	.|1115;1574;1392	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	M|Y	260|1574;1355;1355;1392	.|ENSP00000382204:S1574Y;ENSP00000384990:S1355Y;ENSP00000382195:S1355Y;ENSP00000444682:S1392Y	.|ENSP00000382195:S1355Y	L|S	-|-	1|2	2|0	JMJD1C|JMJD1C	64636714|64636714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.514000|2.514000	0.45503|0.45503	1.412000|1.412000	0.46977|0.46977	0.591000|0.591000	0.81541|0.81541	CTG|TCT		0.318	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		14	38	1	0	7.93312e-07	1	8.98086e-07	14	38				
CACNA1H	8912	broad.mit.edu	37	16	1270813	1270813	+	Missense_Mutation	SNP	C	C	A	rs540026021		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1270813C>A	ENST00000348261.5	+	35	7129	c.6881C>A	c.(6880-6882)gCt>gAt	p.A2294D	CACNA1H_ENST00000565831.1_Missense_Mutation_p.A2288D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A2288D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2294					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GAATCCAGAGCTTCCTCTTCA	0.632													c|||	1	0.000199681	0.0	0.0014	5008	,	,		14806	0.0		0.0	False		,,,				2504	0.0					ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6880-6882)gCt>gAt		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						67.0	75.0	72.0					16																	1270813		1872	4100	5972	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270813C>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6881C>A	16.37:g.1270813C>A	ENSP00000334198:p.Ala2294Asp					CACNA1H_ENST00000565831.1_Missense_Mutation_p.A2288D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A2288D	p.A2294D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			35	7129	+		Hepatocellular(780;0.00369)	2294					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.6881C>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	c	5.849	0.340761	0.11069	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96802	-4.13;-4.08	2.42	-0.18	0.13295	.	7.823530	0.00166	N	0.000009	D	0.89508	0.6735	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.30482	0.281;0.001;0.148;0.001;0.18	B;B;B;B;B	0.29440	0.07;0.001;0.102;0.003;0.07	D	0.84463	0.0595	10	0.11794	T	0.64	.	2.539	0.04721	0.0:0.4279:0.2931:0.279	.	1040;1018;1024;2288;2294	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	D	2294;2288	ENSP00000334198:A2294D;ENSP00000351401:A2288D	ENSP00000334198:A2294D	A	+	2	0	CACNA1H	1210814	0.000000	0.05858	0.340000	0.25575	0.126000	0.20510	0.281000	0.18810	-0.008000	0.14320	0.580000	0.79431	GCT		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		33	77	1	0	7.61165e-28	1	1.08027e-27	33	77				
PNPLA7	375775	broad.mit.edu	37	9	140354851	140354851	+	Silent	SNP	G	G	A	rs376048567		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140354851G>A	ENST00000277531.4	-	34	4134	c.3948C>T	c.(3946-3948)gaC>gaT	p.D1316D	NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.D1341D|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000339554.3_5'Flank|NSMF_ENST00000371475.3_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000371472.2_5'Flank|PNPLA7_ENST00000371457.1_Silent_p.D922D|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000371474.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1316					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCTCTACCCGTCCTGGTCAG	0.617																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4021-4023)gaC>gaT		patatin-like phospholipase domain containing 7							39.0	36.0	37.0					9																	140354851		2200	4299	6499	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140354851G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3948C>T	9.37:g.140354851G>A						PNPLA7_ENST00000371457.1_Silent_p.D922D|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.D1316D	p.D1341D	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	35	4359	-	all_cancers(76;0.126)		1316					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.4023C>T	CCDS7045.1																																																																																				0.617	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		8	32	0	0	0	1	0	8	32				
SGOL2	151246	broad.mit.edu	37	2	201437472	201437472	+	Missense_Mutation	SNP	T	T	G	rs201366210		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201437472T>G	ENST00000357799.4	+	7	2501	c.2403T>G	c.(2401-2403)gaT>gaG	p.D801E		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	801					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTCAAAATGATTCAAAAATAG	0.348																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2401-2403)gaT>gaG		shugoshin-like 2 (S. pombe)							75.0	70.0	71.0					2																	201437472		1835	4077	5912	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437472T>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2403T>G	2.37:g.201437472T>G	ENSP00000350447:p.Asp801Glu						p.D801E	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2501	+			801					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2403T>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.368009	0.00209	.	.	ENSG00000163535	ENST00000357799	T	0.12465	2.68	4.91	-2.36	0.06663	.	1.069170	0.07278	N	0.870355	T	0.03263	0.0095	N	0.02202	-0.64	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.10450	0.005;0.002;0.004	T	0.40683	-0.9550	10	0.05620	T	0.96	-0.4312	0.3819	0.00396	0.19:0.2078:0.2107:0.3915	.	801;801;801	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	E	801	ENSP00000350447:D801E	ENSP00000350447:D801E	D	+	3	2	SGOL2	201145717	0.005000	0.15991	0.174000	0.22961	0.016000	0.09150	-0.103000	0.10940	-0.134000	0.11516	-0.446000	0.05623	GAT		0.348	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		13	59	0	0	0	1	0	13	59				
SIGMAR1	10280	broad.mit.edu	37	9	34637346	34637346	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34637346G>A	ENST00000277010.4	-	2	296	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	SIGMAR1_ENST00000477726.1_Missense_Mutation_p.P75S|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_5'UTR	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	75					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	TCCTCGTCGGGCAGCACGTGG	0.677																																						ENST00000277010.4																			0				large_intestine(1)|lung(1)	2						c.(223-225)Ccc>Tcc		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						19.0	24.0	22.0					9																	34637346		2199	4297	6496	SO:0001583	missense	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34637346G>A	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.223C>T	9.37:g.34637346G>A	ENSP00000277010:p.Pro75Ser					SIGMAR1_ENST00000477726.1_Missense_Mutation_p.P75S|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_5'UTR	p.P75S	NM_005866.2	NP_005857.1	Q99720	SGMR1_HUMAN			2	296	-			75					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Missense_Mutation	SNP	ENST00000277010.4	37	c.223C>T	CCDS6562.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669918	0.88348	.	.	ENSG00000147955	ENST00000277010;ENST00000477726	T;T	0.64438	-0.1;-0.1	4.8	3.86	0.44501	.	0.055057	0.64402	D	0.000001	T	0.65863	0.2732	L	0.56769	1.78	0.54753	D	0.99998	B;P;B;P	0.46859	0.136;0.885;0.316;0.86	B;P;B;P	0.51324	0.081;0.666;0.181;0.536	T	0.61372	-0.7076	10	0.18710	T	0.47	-30.9024	15.0641	0.71980	0.0:0.1553:0.8447:0.0	.	75;75;75;55	B4DR71;A2A3U5;Q99720;Q99720-2	.;.;SGMR1_HUMAN;.	S	75	ENSP00000277010:P75S;ENSP00000420022:P75S	ENSP00000277010:P75S	P	-	1	0	SIGMAR1	34627346	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.646000	0.83445	2.494000	0.84150	0.561000	0.74099	CCC		0.677	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		8	13	0	0	0	1	0	8	13				
SULT2A1	6822	broad.mit.edu	37	19	48378009	48378009	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48378009T>C	ENST00000222002.3	-	5	789	c.650A>G	c.(649-651)aAc>aGc	p.N217S		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	217					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	AAAGGAGCTGTTCTTGAGAAT	0.378																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(649-651)aAc>aGc		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							156.0	148.0	151.0					19																	48378009		2202	4300	6502	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48378009T>C	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.650A>G	19.37:g.48378009T>C	ENSP00000222002:p.Asn217Ser						p.N217S	NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	5	789	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	217						Missense_Mutation	SNP	ENST00000222002.3	37	c.650A>G	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.481028	0.44044	.	.	ENSG00000105398	ENST00000222002	D	0.82255	-1.59	3.79	3.79	0.43588	Sulfotransferase domain (1);	0.504996	0.17223	N	0.182271	D	0.84442	0.5473	L	0.42581	1.335	0.09310	N	1	D	0.60575	0.988	P	0.60012	0.867	T	0.74509	-0.3642	10	0.37606	T	0.19	.	11.1431	0.48415	0.0:0.0:0.0:1.0	.	217	Q06520	ST2A1_HUMAN	S	217	ENSP00000222002:N217S	ENSP00000222002:N217S	N	-	2	0	SULT2A1	53069821	0.243000	0.23878	0.002000	0.10522	0.029000	0.11900	2.165000	0.42396	1.949000	0.56562	0.528000	0.53228	AAC		0.378	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		11	40	0	0	0	1	0	11	40				
PRICKLE3	4007	broad.mit.edu	37	X	49032046	49032046	+	Silent	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49032046T>A	ENST00000376317.3	-	9	1918	c.1824A>T	c.(1822-1824)cgA>cgT	p.R608R	PRICKLE3_ENST00000538114.1_Silent_p.R432R|PRICKLE3_ENST00000540849.1_Silent_p.R540R|PRICKLE3_ENST00000536904.1_Silent_p.R527R	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	608							zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						AGTTCTTGTCTCGGGCCTGAC	0.622																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(1822-1824)cgA>cgT		prickle homolog 3 (Drosophila)							39.0	38.0	39.0					X																	49032046		2203	4300	6503	SO:0001819	synonymous_variant	4007						protein binding|zinc ion binding	g.chrX:49032046T>A	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1824A>T	X.37:g.49032046T>A						PRICKLE3_ENST00000536904.1_Silent_p.R527R|PRICKLE3_ENST00000538114.1_Silent_p.R432R|PRICKLE3_ENST00000540849.1_Silent_p.R540R	p.R608R	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN			9	1918	-			608					B7Z8F2|O76007|Q53XR5	Silent	SNP	ENST00000376317.3	37	c.1824A>T	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	-	6.407	0.443300	0.12164	.	.	ENSG00000012211	ENST00000453382	.	.	.	4.55	0.271	0.15640	.	0.000000	0.36628	N	0.002487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.5243	2.2736	0.04096	0.2449:0.349:0.0:0.4061	.	.	.	.	X	621	.	.	R	-	1	2	PRICKLE3	48918990	0.947000	0.32204	0.626000	0.29213	0.472000	0.32918	-0.056000	0.11787	0.092000	0.17331	0.371000	0.22339	AGA		0.622	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		21	36	0	0	0	1	0	21	36				
IFIT2	3433	broad.mit.edu	37	10	91065810	91065810	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91065810G>T	ENST00000371826.3	+	2	266	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	33					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CTCCTTGGATGATTTTGAAGA	0.433																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(97-99)Gat>Tat		interferon-induced protein with tetratricopeptide repeats 2							74.0	77.0	76.0					10																	91065810		1975	4181	6156	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91065810G>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.97G>T	10.37:g.91065810G>T	ENSP00000360891:p.Asp33Tyr					LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	p.D33Y	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	266	+		Colorectal(252;0.0161)	33					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.97G>T	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822027	0.50739	.	.	ENSG00000119922	ENST00000371826	T	0.44083	0.93	5.11	0.0691	0.14372	.	0.631714	0.15511	U	0.258539	T	0.38506	0.1043	M	0.73598	2.24	0.09310	N	1	P	0.40476	0.718	B	0.39185	0.293	T	0.27468	-1.0073	10	0.54805	T	0.06	-5.8536	5.8378	0.18617	0.4215:0.1327:0.4458:0.0	.	33	P09913	IFIT2_HUMAN	Y	33	ENSP00000360891:D33Y	ENSP00000360891:D33Y	D	+	1	0	IFIT2	91055790	0.334000	0.24739	0.379000	0.26080	0.896000	0.52359	0.155000	0.16362	0.128000	0.18479	0.655000	0.94253	GAT		0.433	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		20	39	1	0	4.96729e-08	1	5.79844e-08	20	39				
MERTK	10461	broad.mit.edu	37	2	112779123	112779123	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112779123C>A	ENST00000295408.4	+	17	2571	c.2314C>A	c.(2314-2316)Ctt>Att	p.L772I	MERTK_ENST00000421804.2_Missense_Mutation_p.L772I|MERTK_ENST00000409780.1_Missense_Mutation_p.L596I			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	772	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATAGAAAGTCTTGCAGACCG	0.458																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2314-2316)Ctt>Att		c-mer proto-oncogene tyrosine kinase							118.0	114.0	115.0					2																	112779123		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112779123C>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2314C>A	2.37:g.112779123C>A	ENSP00000295408:p.Leu772Ile					MERTK_ENST00000421804.2_Missense_Mutation_p.L772I|MERTK_ENST00000409780.1_Missense_Mutation_p.L596I	p.L772I			Q12866	MERTK_HUMAN			17	2571	+			772			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2314C>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622814	0.87460	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.30043	U	0.010547	D	0.87822	0.6274	L	0.39085	1.19	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.88794	0.3280	10	0.87932	D	0	-23.652	19.012	0.92877	0.0:1.0:0.0:0.0	.	772	Q12866	MERTK_HUMAN	I	772;772;408;596;96	ENSP00000295408:L772I;ENSP00000389152:L772I;ENSP00000387277:L596I;ENSP00000412660:L96I	ENSP00000295408:L772I	L	+	1	0	MERTK	112495594	1.000000	0.71417	0.921000	0.36526	0.994000	0.84299	5.762000	0.68809	2.724000	0.93272	0.563000	0.77884	CTT		0.458	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			18	70	1	0	5.35267e-07	1	6.09026e-07	18	70				
HEATR6	63897	broad.mit.edu	37	17	58136792	58136792	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58136792G>A	ENST00000184956.6	-	11	1730	c.1714C>T	c.(1714-1716)Cgc>Tgc	p.R572C	HEATR6_ENST00000585976.1_Missense_Mutation_p.R572C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	572							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CCTTTGTGGCGAATATAAGGC	0.348																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1714-1716)Cgc>Tgc		HEAT repeat containing 6							108.0	99.0	102.0					17																	58136792		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58136792G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1714C>T	17.37:g.58136792G>A	ENSP00000184956:p.Arg572Cys					HEATR6_ENST00000585976.1_Missense_Mutation_p.R572C	p.R572C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		11	1730	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		572					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1714C>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878915	0.72294	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.65916	-0.18	5.62	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.149427	0.64402	D	0.000008	T	0.48909	0.1526	L	0.34521	1.04	0.58432	D	0.999995	B;B	0.26081	0.047;0.141	B;B	0.20184	0.019;0.028	T	0.47959	-0.9076	10	0.46703	T	0.11	-3.339	10.4854	0.44719	0.1647:0.0:0.8353:0.0	.	419;572	E7ESB9;Q6AI08	.;HEAT6_HUMAN	C	572;419	ENSP00000184956:R572C	ENSP00000184956:R572C	R	-	1	0	HEATR6	55491574	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.291000	0.59025	1.532000	0.49169	0.585000	0.79938	CGC		0.348	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		20	46	0	0	0	1	0	20	46				
ASPM	259266	broad.mit.edu	37	1	197111684	197111684	+	Silent	SNP	C	C	T	rs372072744		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197111684C>T	ENST00000367409.4	-	3	1954	c.1698G>A	c.(1696-1698)tcG>tcA	p.S566S	ASPM_ENST00000294732.7_Silent_p.S566S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	566					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGCTGTTGTCGAAGAGGGTG	0.348																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1696-1698)tcG>tcA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)		C	,	1,4405	2.1+/-5.4	0,1,2202	121.0	127.0	125.0		1698,1698	-11.3	0.0	1		125	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	ASPM	NM_001206846.1,NM_018136.4	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	566/1893,566/3478	197111684	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111684C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1698G>A	1.37:g.197111684C>T						ASPM_ENST00000294732.7_Silent_p.S566S	p.S566S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1954	-			566					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.1698G>A	CCDS1389.1																																																																																				0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		20	50	0	0	0	1	0	20	50				
RTN4RL1	146760	broad.mit.edu	37	17	1840609	1840609	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1840609G>A	ENST00000331238.6	-	2	986	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCAGGTCCACGAAGATGTCGT	0.632																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(505-507)ttC>ttT		reticulon 4 receptor-like 1							41.0	47.0	45.0					17																	1840609		2098	4226	6324	SO:0001819	synonymous_variant	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840609G>A	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.507C>T	17.37:g.1840609G>A							p.F169F	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	525	-			169						Silent	SNP	ENST00000331238.6	37	c.507C>T	CCDS45569.1																																																																																				0.632	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		9	45	0	0	0	1	0	9	45				
SMG7	9887	broad.mit.edu	37	1	183502819	183502819	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:183502819C>A	ENST00000347615.2	+	10	1134	c.1015C>A	c.(1015-1017)Ctt>Att	p.L339I	SMG7_ENST00000456731.2_Missense_Mutation_p.L297I|SMG7_ENST00000508461.1_Missense_Mutation_p.L297I|SMG7_ENST00000515829.2_Missense_Mutation_p.L339I|SMG7_ENST00000367537.3_Missense_Mutation_p.L368I|SMG7_ENST00000507469.1_Missense_Mutation_p.L339I	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	339					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGTGTCTTTTCTTGGCATCCT	0.383																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1102-1104)Ctt>Att		SMG7 nonsense mediated mRNA decay factor							62.0	65.0	64.0					1																	183502819		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183502819C>A	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1015C>A	1.37:g.183502819C>A	ENSP00000340766:p.Leu339Ile					SMG7_ENST00000507469.1_Missense_Mutation_p.L339I|SMG7_ENST00000347615.2_Missense_Mutation_p.L339I|SMG7_ENST00000515829.2_Missense_Mutation_p.L339I|SMG7_ENST00000508461.1_Missense_Mutation_p.L297I|SMG7_ENST00000456731.2_Missense_Mutation_p.L297I	p.L368I			Q92540	SMG7_HUMAN			11	1297	+			339					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1102C>A	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043230	0.75732	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	L	0.54323	1.7	0.58432	D	0.999998	D;D;D;P;P;B	0.76494	0.996;0.999;0.999;0.488;0.722;0.339	D;D;D;B;B;B	0.77557	0.977;0.984;0.99;0.275;0.402;0.205	T	0.52638	-0.8549	10	0.56958	D	0.05	-12.3253	12.8948	0.58093	0.0:0.926:0.0:0.074	.	297;368;297;339;339;339	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	I	297;368;297;297;339;339;339	ENSP00000407629:L297I;ENSP00000356507:L368I;ENSP00000426915:L297I;ENSP00000388390:L297I;ENSP00000340766:L339I;ENSP00000425133:L339I;ENSP00000421358:L339I	ENSP00000340766:L339I	L	+	1	0	SMG7	181769442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.571000	0.67404	2.627000	0.88993	0.655000	0.94253	CTT		0.383	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		16	21	1	0	2.32078e-09	1	2.7896e-09	16	21				
TTN	7273	broad.mit.edu	37	2	179585127	179585127	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179585127A>G	ENST00000591111.1	-	78	22635	c.22411T>C	c.(22411-22413)Tct>Cct	p.S7471P	TTN_ENST00000589042.1_Missense_Mutation_p.S7788P|TTN_ENST00000342992.6_Missense_Mutation_p.S6544P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13026	Ig-like 56.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTGACAGAGCAAGAACAC	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23362-23364)Tct>Cct		titin							141.0	134.0	136.0					2																	179585127		1904	4123	6027	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585127A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22411T>C	2.37:g.179585127A>G	ENSP00000465570:p.Ser7471Pro					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6544P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7471P	p.S7788P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		80	23586	-			7471			Ig-like 60.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23362T>C		.	.	.	.	.	.	.	.	.	.	A	8.131	0.782984	0.16189	.	.	ENSG00000155657	ENST00000342992	T	0.69306	-0.39	5.91	0.489	0.16854	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52403	0.1732	L	0.49256	1.55	0.32534	N	0.534579	B	0.02656	0.0	B	0.04013	0.001	T	0.55062	-0.8199	9	0.87932	D	0	.	0.3813	0.00395	0.3495:0.1947:0.1268:0.329	.	7471	Q8WZ42	TITIN_HUMAN	P	6544	ENSP00000343764:S6544P	ENSP00000343764:S6544P	S	-	1	0	TTN	179293372	0.045000	0.20229	0.977000	0.42913	0.979000	0.70002	-0.218000	0.09240	0.121000	0.18284	-0.347000	0.07816	TCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	53	0	0	0	1	0	19	53				
RIMS2	9699	broad.mit.edu	37	8	104924348	104924348	+	Missense_Mutation	SNP	G	G	A	rs375138135		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:104924348G>A	ENST00000436393.2	+	4	1335	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	RIMS2_ENST00000507740.1_Missense_Mutation_p.R395H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R587H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R442H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	665					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R395H(1)|p.R670H(1)|p.R365H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAATAAGCGTCTAAAAGAT	0.353										HNSCC(12;0.0054)																												ENST00000507740.1																			3	Substitution - Missense(3)	p.R395H(1)|p.R670H(1)|p.R365H(1)	large_intestine(3)	NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1183-1185)cGt>cAt		regulating synaptic membrane exocytosis 2		G	HIS/ARG,HIS/ARG	1,3687		0,1,1843	119.0	116.0	117.0		1760,1184	5.9	1.0	8		117	1,8175		0,1,4087	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	29,29	0,2,5930	AA,AG,GG		0.0122,0.0271,0.0169	probably-damaging,probably-damaging	587/1350,395/1164	104924348	2,11862	1844	4088	5932	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104924348G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1094G>A	8.37:g.104924348G>A	ENSP00000390665:p.Arg365His	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.R365H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R442H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R587H	p.R395H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		4	1420	+			665					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1184G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.445035	0.96187	2.71E-4	1.22E-4	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.21031	2.03;2.52;2.15;2.22;2.2;2.14;2.53	5.92	5.92	0.95590	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.44644	0.1303	L	0.49778	1.585	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.997;0.999;0.998;1.0	D;D;D;D;D	0.81914	0.977;0.977;0.992;0.98;0.995	T	0.14254	-1.0479	9	0.66056	D	0.02	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	665;365;442;395;587	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	H	587;618;587;665;395;442;395;395;365	ENSP00000427018:R587H;ENSP00000384892:R587H;ENSP00000425205:R395H;ENSP00000262231:R442H;ENSP00000423559:R395H;ENSP00000386228:R395H;ENSP00000390665:R365H	ENSP00000262231:R442H	R	+	2	0	RIMS2	104993524	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.833000	0.86765	2.822000	0.97130	0.650000	0.86243	CGT		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		21	52	0	0	0	1	0	21	52				
OPRL1	4987	broad.mit.edu	37	20	62729974	62729974	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62729974G>A	ENST00000349451.3	+	6	1347	c.935G>A	c.(934-936)aGc>aAc	p.S312N	OPRL1_ENST00000336866.2_Missense_Mutation_p.S312N|OPRL1_ENST00000355631.4_Missense_Mutation_p.S312N	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	312					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TACGTCAACAGCTGCCTCAAC	0.637																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(934-936)aGc>aAc		opiate receptor-like 1							98.0	86.0	90.0					20																	62729974		2203	4299	6502	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729974G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.935G>A	20.37:g.62729974G>A	ENSP00000336764:p.Ser312Asn					OPRL1_ENST00000355631.4_Missense_Mutation_p.S312N|OPRL1_ENST00000336866.2_Missense_Mutation_p.S312N	p.S312N	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1347	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		312					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.935G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921824	0.92319	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.79554	-1.28;-1.28;-1.28	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	H	0.97852	4.09	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.83275	0.991;0.996	D	0.96321	0.9236	10	0.87932	D	0	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	307;312	P41146-2;P41146	.;OPRX_HUMAN	N	312	ENSP00000336843:S312N;ENSP00000347848:S312N;ENSP00000336764:S312N	ENSP00000336843:S312N	S	+	2	0	OPRL1	62200418	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.610000	0.98337	2.346000	0.79739	0.500000	0.49745	AGC		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		35	50	0	0	0	1	0	35	50				
LRRCC1	85444	broad.mit.edu	37	8	86021859	86021859	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:86021859T>A	ENST00000360375.3	+	2	283	c.134T>A	c.(133-135)cTt>cAt	p.L45H	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L25H	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	45					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GATTCAACTCTTCATGCCGTC	0.274																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(73-75)cTt>cAt		leucine rich repeat and coiled-coil centrosomal protein 1							54.0	46.0	48.0					8																	86021859		1804	4073	5877	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86021859T>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.134T>A	8.37:g.86021859T>A	ENSP00000353538:p.Leu45His					LRRCC1_ENST00000360375.3_Missense_Mutation_p.L45H	p.L25H			Q9C099	LRCC1_HUMAN			1	963	+			45					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.74T>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765103	0.69878	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.54866	0.55;0.59	5.79	5.79	0.91817	.	0.216956	0.23523	N	0.047270	T	0.81187	0.4770	H	0.96996	3.92	0.36337	D	0.859207	D;D	0.89917	1.0;0.999	D;P	0.66497	0.944;0.907	D	0.90207	0.4261	10	0.87932	D	0	-1.5783	15.7903	0.78350	0.0:0.0:0.0:1.0	.	25;45	Q9C099-2;Q9C099	.;LRCC1_HUMAN	H	45;25	ENSP00000353538:L45H;ENSP00000394695:L25H	ENSP00000353538:L45H	L	+	2	0	LRRCC1	86209111	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	7.144000	0.77357	2.205000	0.71048	0.482000	0.46254	CTT		0.274	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		6	11	0	0	0	1	0	6	11				
TTN	7273	broad.mit.edu	37	2	179478500	179478500	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179478500G>A	ENST00000591111.1	-	213	44811	c.44587C>T	c.(44587-44589)Cca>Tca	p.P14863S	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P16504S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13936S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7439S|TTN_ENST00000359218.5_Missense_Mutation_p.P7564S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7631S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14863	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTACTGGCATCTTATTG	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49510-49512)Cca>Tca		titin							163.0	168.0	167.0					2																	179478500		1935	4129	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478500G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44587C>T	2.37:g.179478500G>A	ENSP00000465570:p.Pro14863Ser					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7631S|TTN_ENST00000359218.5_Missense_Mutation_p.P7564S|TTN_ENST00000342992.6_Missense_Mutation_p.P13936S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7439S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14863S	p.P16504S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		263	49734	-			14863			Fibronectin type-III 19.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49510C>T		.	.	.	.	.	.	.	.	.	.	G	19.77	3.889247	0.72524	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73644	0.3613	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73531	-0.3953	9	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	7439;7564;7631;14863	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	13936;7439;7631;7564;7439	ENSP00000343764:P13936S;ENSP00000434586:P7439S;ENSP00000340554:P7631S;ENSP00000352154:P7564S	ENSP00000340554:P7631S	P	-	1	0	TTN	179186745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	CCA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	81	0	0	0	1	0	36	81				
ZNF544	27300	broad.mit.edu	37	19	58773431	58773431	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58773431A>G	ENST00000596652.1	+	6	1693	c.1459A>G	c.(1459-1461)Act>Gct	p.T487A	ZNF544_ENST00000600220.1_Missense_Mutation_p.T459A|CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.T459A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000269829.4_Missense_Mutation_p.T487A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T459A|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.T345A|ZNF544_ENST00000595981.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAGAACGCACACTGGAGAAAA	0.433																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1459-1461)Act>Gct		zinc finger protein 544							82.0	85.0	84.0					19																	58773431		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773431A>G	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1459A>G	19.37:g.58773431A>G	ENSP00000469635:p.Thr487Ala					CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.T459A|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.T345A|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.T487A|ZNF544_ENST00000600220.1_Missense_Mutation_p.T459A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T459A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron	p.T487A	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1933	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	487					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1459A>G	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.790119	0.31685	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.44482	0.92;0.92	2.34	1.17	0.20885	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28928	0.0718	N	0.12611	0.24	0.80722	D	1	B;P;P	0.46706	0.363;0.883;0.883	B;P;B	0.48795	0.164;0.59;0.285	T	0.07083	-1.0791	9	0.62326	D	0.03	.	6.1952	0.20546	0.7404:0.2596:0.0:0.0	.	459;459;487	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	A	487;459	ENSP00000269829:T487A;ENSP00000394341:T459A	ENSP00000269829:T487A	T	+	1	0	ZNF544	63465243	0.965000	0.33210	0.013000	0.15412	0.032000	0.12392	2.154000	0.42291	0.109000	0.17891	0.334000	0.21626	ACT		0.433	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		27	73	0	0	0	1	0	27	73				
C7	730	broad.mit.edu	37	5	40959686	40959686	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:40959686G>A	ENST00000313164.9	+	12	1984	c.1625G>A	c.(1624-1626)aGc>aAc	p.S542N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	542	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				ACGACAGAAAGCACACAATGC	0.537																																						ENST00000313164.9																			0											c.(1624-1626)aGc>aAc		complement component 7							76.0	84.0	81.0					5																	40959686		2021	4177	6198	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40959686G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1625G>A	5.37:g.40959686G>A	ENSP00000322061:p.Ser542Asn						p.S542N	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			12	1984	+		Ovarian(839;0.0112)	542			TSP type-1 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1625G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	7.731	0.699237	0.15106	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.53640	0.61	5.4	1.22	0.21188	.	0.494203	0.23662	N	0.045807	T	0.39682	0.1087	L	0.61036	1.89	0.21256	N	0.999746	B	0.22003	0.063	B	0.18263	0.021	T	0.30119	-0.9989	10	0.39692	T	0.17	-12.1346	7.4794	0.27395	0.0657:0.3237:0.5:0.1106	.	542	P10643	CO7_HUMAN	N	542;382	ENSP00000322061:S542N	ENSP00000322061:S542N	S	+	2	0	C7	40995443	0.162000	0.22906	0.509000	0.27700	0.066000	0.16364	0.563000	0.23547	0.612000	0.30071	0.462000	0.41574	AGC		0.537	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			14	22	0	0	0	1	0	14	22				
TUBA3C	7278	broad.mit.edu	37	13	19752459	19752459	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19752459T>G	ENST00000400113.3	-	3	406	c.302A>C	c.(301-303)aAt>aCt	p.N101T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	101					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCGTAATTATTGGCCGCATC	0.527																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(301-303)aAt>aCt		tubulin, alpha 3c							206.0	173.0	184.0					13																	19752459		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752459T>G	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.302A>C	13.37:g.19752459T>G	ENSP00000382982:p.Asn101Thr						p.N101T	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	406	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	101					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.302A>C	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	t	13.90	2.375869	0.42105	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.75704	-0.96	1.53	1.53	0.23141	.	0.000000	0.49916	U	0.000137	T	0.76513	0.3998	.	.	.	0.42043	D	0.991089	.	.	.	.	.	.	T	0.76639	-0.2885	7	0.87932	D	0	.	7.129	0.25488	0.0:0.0:0.0:1.0	.	.	.	.	T	101	ENSP00000382982:N101T	ENSP00000354037:N101T	N	-	2	0	TUBA3C	18650459	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	4.855000	0.62925	0.958000	0.37956	0.347000	0.21830	AAT		0.527	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		15	116	0	0	0	1	0	15	116				
TRRAP	8295	broad.mit.edu	37	7	98530911	98530911	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98530911G>A	ENST00000359863.4	+	27	4109	c.3900G>A	c.(3898-3900)caG>caA	p.Q1300Q	TRRAP_ENST00000355540.3_Silent_p.Q1300Q|TRRAP_ENST00000446306.3_Silent_p.Q1299Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1300					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCGACACCAGCCTGCCAACG	0.582																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(3898-3900)caG>caA		transformation/transcription domain-associated protein							99.0	75.0	83.0					7																	98530911		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98530911G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3900G>A	7.37:g.98530911G>A						TRRAP_ENST00000446306.3_Silent_p.Q1299Q|TRRAP_ENST00000355540.3_Silent_p.Q1300Q	p.Q1300Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		27	4109	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1300					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.3900G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	9.823	1.186302	0.21870	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.07	5.09	0.68999	.	.	.	.	.	T	0.61999	0.2392	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57860	-0.7738	4	.	.	.	.	10.8668	0.46860	0.1342:0.0:0.8658:0.0	.	.	.	.	N	1015	.	.	S	+	2	0	TRRAP	98368847	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.752000	0.55172	2.884000	0.98904	0.655000	0.94253	AGC		0.582	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		9	23	0	0	0	1	0	9	23				
ZDHHC2	51201	broad.mit.edu	37	8	17074756	17074756	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17074756G>T	ENST00000262096.8	+	12	1833		c.e12+1			NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2						protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CTTTATAAAAGTACGATAATT	0.269																																						ENST00000262096.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.e12+1		zinc finger, DHHC-type containing 2							45.0	42.0	43.0					8																	17074756		1787	4052	5839	SO:0001630	splice_region_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17074756G>T	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.1101+1G>T	8.37:g.17074756G>T								NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	12	1833	+								D3DSP5	Splice_Site	SNP	ENST00000262096.8	37		CCDS47810.1																																																																																				0.269	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353	Intron	10	11	1	0	3.86212e-05	1	4.21111e-05	10	11				
PBX1	5087	broad.mit.edu	37	1	164761784	164761784	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:164761784C>T	ENST00000420696.2	+	3	507	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	PBX1_ENST00000367897.1_Missense_Mutation_p.R107W|PBX1_ENST00000540246.1_Missense_Mutation_p.R2W|PBX1_ENST00000540236.1_Missense_Mutation_p.R107W|PBX1_ENST00000560641.1_Missense_Mutation_p.R2W|PBX1_ENST00000559240.1_Missense_Mutation_p.R107W|PBX1_ENST00000401534.1_Missense_Mutation_p.R107W	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	107					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCAGCTGATGCGGCTGGACAA	0.627			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(319-321)Cgg>Tgg		pre-B-cell leukemia homeobox 1							33.0	36.0	35.0					1																	164761784		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164761784C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.319C>T	1.37:g.164761784C>T	ENSP00000405890:p.Arg107Trp					PBX1_ENST00000367897.1_Missense_Mutation_p.R107W|PBX1_ENST00000401534.1_Missense_Mutation_p.R107W|PBX1_ENST00000560641.1_Missense_Mutation_p.R2W|PBX1_ENST00000559240.1_Missense_Mutation_p.R107W|PBX1_ENST00000540246.1_Missense_Mutation_p.R2W|PBX1_ENST00000540236.1_Missense_Mutation_p.R107W	p.R107W	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			3	507	+			107					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.319C>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314983	0.81358	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.5	4.56	0.56223	PBX (1);	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.87547	2.89	0.09310	N	1.0	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.74780	-0.3549	9	0.87932	D	0	-9.3891	13.5638	0.61806	0.2824:0.7176:0.0:0.0	.	107;107;107;107	A8K5V0;F5H4U9;P40424;Q53YC7	.;.;PBX1_HUMAN;.	W	107;107;107;107;107;2	ENSP00000341455:R107W;ENSP00000405890:R107W;ENSP00000356872:R107W;ENSP00000439943:R107W;ENSP00000384856:R107W;ENSP00000440869:R2W	ENSP00000341455:R107W	R	+	1	2	PBX1	163028408	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	1.723000	0.38053	1.233000	0.43693	0.563000	0.77884	CGG		0.627	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		23	26	0	0	0	1	0	23	26				
SCN8A	6334	broad.mit.edu	37	12	52183109	52183109	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52183109C>A	ENST00000354534.6	+	24	4504	c.4326C>A	c.(4324-4326)atC>atA	p.I1442I	SCN8A_ENST00000545061.1_Silent_p.I1401I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1442					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACATGTACATCTATTTTGTCA	0.398																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4324-4326)atC>atA		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						178.0	172.0	174.0					12																	52183109		2072	4243	6315	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52183109C>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4326C>A	12.37:g.52183109C>A						SCN8A_ENST00000545061.1_Silent_p.I1401I	p.I1442I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	24	4504	+			1442					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.4326C>A	CCDS44891.1																																																																																				0.398	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		8	52	1	0	0.000157383	1	0.000169016	8	52				
PBRM1	55193	broad.mit.edu	37	3	52643768	52643768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52643768G>A	ENST00000296302.7	-	16	2129	c.2128C>T	c.(2128-2130)Cga>Tga	p.R710*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R725*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R678*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R725*			Q86U86	PB1_HUMAN	polybromo 1	710	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R710*(2)|p.R678*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTGACTTCGAATTTTTTCC	0.438			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Substitution - Nonsense(3)	p.R710*(2)|p.R678*(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2032-2034)Cga>Tga		polybromo 1							147.0	143.0	144.0					3																	52643768		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643768G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2128C>T	3.37:g.52643768G>A	ENSP00000296302:p.Arg710*					PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R725*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R725*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R710*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R710*	p.R678*			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2034	-			710		R -> C.	Bromo 5.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.2032C>T		.	.	.	.	.	.	.	.	.	.	G	38	7.040996	0.98021	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	3.13	0.36017	.	0.055075	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7405	15.7	0.77536	0.0:0.0:0.6414:0.3586	.	.	.	.	X	678;710;710;710;710;710;725;725;710;669	.	ENSP00000296302:R710X	R	-	1	2	PBRM1	52618808	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.705000	0.25675	1.587000	0.49959	0.655000	0.94253	CGA		0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		24	70	0	0	0	1	0	24	70				
ACTR10	55860	broad.mit.edu	37	14	58701269	58701269	+	Nonstop_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58701269G>T	ENST00000254286.4	+	13	1334	c.1254G>T	c.(1252-1254)taG>taT	p.*418Y		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	0					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTGAGAAATAGAAGTTTGATT	0.338																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1252-1254)taG>taT		actin-related protein 10 homolog (S. cerevisiae)							63.0	60.0	61.0					14																	58701269		2203	4300	6503	SO:0001578	stop_lost	55860					cytoplasm		g.chr14:58701269G>T	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.1254G>T	14.37:g.58701269G>T	ENSP00000254286:p.*418Tyrext*4					ACTR10_ENST00000554402.1_3'UTR	p.*418Y	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			13	1334	+			0					Q9H9Y5|Q9NWY2	Nonstop_Mutation	SNP	ENST00000254286.4	37	c.1254G>T	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889920	0.33348	.	.	ENSG00000131966	ENST00000254286	.	.	.	5.58	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4735	0.32999	0.8402:0.0:0.1598:0.0	.	.	.	.	Y	418	.	.	X	+	3	2	ACTR10	57771022	1.000000	0.71417	0.985000	0.45067	0.669000	0.39330	1.963000	0.40452	1.046000	0.40249	-0.290000	0.09829	TAG		0.338	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			5	31	1	0	0.014758	1	0.015099	5	31				
CREBBP	1387	broad.mit.edu	37	16	3781414	3781414	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3781414C>T	ENST00000262367.5	-	30	5760	c.4951G>A	c.(4951-4953)Gac>Aac	p.D1651N	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1613N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1651	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D1651N(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGTCGGGGTCGACGATGGGG	0.632			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		1	Substitution - Missense(1)	p.D1651N(1)	large_intestine(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4951-4953)Gac>Aac		CREB binding protein							35.0	25.0	28.0					16																	3781414		2194	4300	6494	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3781414C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4951G>A	16.37:g.3781414C>T	ENSP00000262367:p.Asp1651Asn					CREBBP_ENST00000382070.3_Missense_Mutation_p.D1613N	p.D1651N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5760	-		Ovarian(90;0.0266)	1651			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4951G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.442700	0.63067	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.91521	-2.86;-2.76	5.87	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.91586	0.7342	M	0.92412	3.305	0.80722	D	1	B;B	0.34255	0.445;0.257	B;B	0.20577	0.03;0.011	D	0.91731	0.5396	10	0.87932	D	0	-27.8575	14.9851	0.71342	0.0:0.9319:0.0:0.0681	.	1681;1651	Q4LE28;Q92793	.;CBP_HUMAN	N	1651;1681;1613;186	ENSP00000262367:D1651N;ENSP00000371502:D1613N	ENSP00000262367:D1651N	D	-	1	0	CREBBP	3721415	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.818000	0.86416	1.498000	0.48600	-0.136000	0.14681	GAC		0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		3	17	0	0	0	1	0	3	17				
DNAH5	1767	broad.mit.edu	37	5	13871097	13871097	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13871097C>T	ENST00000265104.4	-	24	3717	c.3613G>A	c.(3613-3615)Gcc>Acc	p.A1205T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1205	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGTCAGGGCGAACTTCAAG	0.403									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3613-3615)Gcc>Acc		dynein, axonemal, heavy chain 5							78.0	79.0	78.0					5																	13871097		2202	4299	6501	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13871097C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3613G>A	5.37:g.13871097C>T	ENSP00000265104:p.Ala1205Thr					CTB-51A17.1_ENST00000503244.1_RNA	p.A1205T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			24	3717	-	Lung NSC(4;0.00476)		1205			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3613G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	7.103	0.574570	0.13623	.	.	ENSG00000039139	ENST00000265104	T	0.24538	1.85	5.84	-0.97	0.10306	.	0.252609	0.40554	N	0.001072	T	0.19604	0.0471	L	0.53249	1.67	0.25648	N	0.986122	B	0.11235	0.004	B	0.12837	0.008	T	0.19647	-1.0299	10	0.29301	T	0.29	.	7.7442	0.28858	0.4776:0.4316:0.0:0.0908	.	1205	Q8TE73	DYH5_HUMAN	T	1205	ENSP00000265104:A1205T	ENSP00000265104:A1205T	A	-	1	0	DNAH5	13924097	0.400000	0.25295	0.002000	0.10522	0.060000	0.15804	0.779000	0.26746	-0.541000	0.06257	-0.152000	0.13540	GCC		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		14	36	0	0	0	1	0	14	36				
CORIN	10699	broad.mit.edu	37	4	47655594	47655594	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:47655594C>T	ENST00000273857.4	-	13	1818	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	CORIN_ENST00000502252.1_Missense_Mutation_p.D540N|CORIN_ENST00000508498.1_Missense_Mutation_p.D468N|CORIN_ENST00000504584.1_Missense_Mutation_p.D570N|CORIN_ENST00000505909.1_Missense_Mutation_p.D570N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	607	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACTGTCATCGTCACAGTCG	0.393																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1819-1821)Gat>Aat		corin, serine peptidase							140.0	126.0	130.0					4																	47655594		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47655594C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1819G>A	4.37:g.47655594C>T	ENSP00000273857:p.Asp607Asn					CORIN_ENST00000508498.1_Missense_Mutation_p.D468N|CORIN_ENST00000504584.1_Missense_Mutation_p.D570N|CORIN_ENST00000505909.1_Missense_Mutation_p.D570N|CORIN_ENST00000502252.1_Missense_Mutation_p.D540N	p.D607N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			13	1818	-			607			LDL-receptor class A 5.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1819G>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129576	0.94473	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36	5.37	5.37	0.77165	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99239	1.0884	10	0.72032	D	0.01	.	19.3052	0.94158	0.0:1.0:0.0:0.0	.	570;540;607	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	N	607;468;540;570;570	ENSP00000273857:D607N;ENSP00000425597:D468N;ENSP00000424212:D540N;ENSP00000425401:D570N;ENSP00000423216:D570N	ENSP00000273857:D607N	D	-	1	0	CORIN	47350351	1.000000	0.71417	0.996000	0.52242	0.774000	0.43823	7.239000	0.78182	2.793000	0.96121	0.591000	0.81541	GAT		0.393	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			4	53	0	0	0	1	0	4	53				
LOC101243545	101243545	broad.mit.edu	37	3	161146971	161146971	+	lincRNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:161146971G>A	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						GGAGCCAGTCGAACATATGCC	0.418																																						ENST00000473595.1																			0																				92.0	102.0	98.0					3																	161146971		1491	2652	4143			0							g.chr3:161146971G>A																													3.37:g.161146971G>A						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1231	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.418	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			15	54	0	0	0	1	0	15	54				
IDH2	3418	broad.mit.edu	37	15	90630471	90630471	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:90630471C>A	ENST00000330062.3	-	7	953	c.840G>T	c.(838-840)aaG>aaT	p.K280N	IDH2_ENST00000540499.2_Missense_Mutation_p.K228N|IDH2_ENST00000559482.1_Missense_Mutation_p.K171N|IDH2_ENST00000539790.1_Missense_Mutation_p.K150N	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	280					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			AGATCTTATTCTTGTCGAAGT	0.542			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(838-840)aaG>aaT		isocitrate dehydrogenase 2 (NADP+), mitochondrial							112.0	109.0	110.0					15																	90630471		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90630471C>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.840G>T	15.37:g.90630471C>A	ENSP00000331897:p.Lys280Asn		OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1276	IDH2_ENST00000559482.1_Missense_Mutation_p.K171N|IDH2_ENST00000539790.1_Missense_Mutation_p.K150N|IDH2_ENST00000540499.2_Missense_Mutation_p.K228N	p.K280N	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		7	953	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		280					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.840G>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291683	0.40594	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.68479	-0.33;-0.33;-0.33	5.56	3.7	0.42460	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	L	0.45352	1.415	0.50039	D	0.99984	B;B	0.11235	0.004;0.002	B;B	0.12837	0.008;0.006	T	0.51052	-0.8754	10	0.51188	T	0.08	.	7.5813	0.27965	0.0:0.7419:0.0:0.2581	.	280;280	Q53GL5;P48735	.;IDHP_HUMAN	N	280;150;228	ENSP00000331897:K280N;ENSP00000438457:K150N;ENSP00000446147:K228N	ENSP00000331897:K280N	K	-	3	2	IDH2	88431475	0.981000	0.34729	0.945000	0.38365	0.940000	0.58332	0.560000	0.23500	0.729000	0.32403	0.313000	0.20887	AAG		0.542	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			32	51	1	0	2.08457e-15	1	2.74702e-15	32	51				
WNT2B	7482	broad.mit.edu	37	1	113063068	113063068	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:113063068A>C	ENST00000369684.4	+	5	1598	c.1113A>C	c.(1111-1113)agA>agC	p.R371S	WNT2B_ENST00000256640.5_Missense_Mutation_p.R279S|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.R352S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	371					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGAATGCAGAAATACTGTGG	0.532																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(1111-1113)agA>agC		wingless-type MMTV integration site family, member 2B							176.0	148.0	157.0					1																	113063068		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113063068A>C	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.1113A>C	1.37:g.113063068A>C	ENSP00000358698:p.Arg371Ser					WNT2B_ENST00000369686.4_Missense_Mutation_p.R352S|WNT2B_ENST00000256640.5_Missense_Mutation_p.R279S	p.R371S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1598	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	371					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.1113A>C	CCDS847.1	.	.	.	.	.	.	.	.	.	.	A	6.885	0.532742	0.13127	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.75821	-0.97;-0.97;-0.97	5.45	4.41	0.53225	.	0.096815	0.64402	D	0.000002	T	0.29028	0.0721	N	0.17564	0.495	0.34211	D	0.674299	B;B	0.21821	0.061;0.012	B;B	0.22152	0.038;0.022	T	0.09357	-1.0678	10	0.07325	T	0.83	.	4.7546	0.13077	0.5716:0.0:0.4284:0.0	.	371;352	Q93097;Q93097-2	WNT2B_HUMAN;.	S	279;352;371	ENSP00000256640:R279S;ENSP00000358700:R352S;ENSP00000358698:R371S	ENSP00000256640:R279S	R	+	3	2	WNT2B	112864591	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.359000	0.44142	0.905000	0.36596	0.533000	0.62120	AGA		0.532	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		11	41	0	0	0	1	0	11	41				
IGF2BP3	10643	broad.mit.edu	37	7	23387299	23387299	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23387299G>A	ENST00000258729.3	-	7	1094	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	246	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGTAGAGAGGATAGTAATCG	0.458																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(736-738)atC>atT		insulin-like growth factor 2 mRNA binding protein 3							105.0	99.0	101.0					7																	23387299		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23387299G>A	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.738C>T	7.37:g.23387299G>A							p.I246I	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			7	1094	-			246			KH 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.738C>T	CCDS5382.1																																																																																				0.458	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		30	55	0	0	0	1	0	30	55				
PRKD3	23683	broad.mit.edu	37	2	37487503	37487503	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37487503T>G	ENST00000379066.1	-	15	2671	c.1909A>C	c.(1909-1911)Aac>Cac	p.N637H	PRKD3_ENST00000234179.2_Missense_Mutation_p.N637H			O94806	KPCD3_HUMAN	protein kinase D3	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CATTCCAGGTTTACAATCCCA	0.383																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1909-1911)Aac>Cac		protein kinase D3							78.0	76.0	77.0					2																	37487503		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37487503T>G	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1909A>C	2.37:g.37487503T>G	ENSP00000368356:p.Asn637His					PRKD3_ENST00000234179.2_Missense_Mutation_p.N637H	p.N637H			O94806	KPCD3_HUMAN			15	2671	-		all_hematologic(82;0.21)	637			Protein kinase.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1909A>C	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971722	0.53614	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443977	T;T;T	0.39997	1.05;1.05;1.05	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	N	0.05487	-0.04	0.80722	D	1	P	0.36086	0.536	B	0.40101	0.319	T	0.24728	-1.0152	10	0.46703	T	0.11	-20.7692	15.8865	0.79255	0.0:0.0:0.0:1.0	.	637	O94806	KPCD3_HUMAN	H	637;637;172	ENSP00000368356:N637H;ENSP00000234179:N637H;ENSP00000398743:N172H	ENSP00000234179:N637H	N	-	1	0	PRKD3	37341007	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	5.020000	0.64066	2.143000	0.66587	0.528000	0.53228	AAC		0.383	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		12	13	0	0	0	1	0	12	13				
BCLAF1	9774	broad.mit.edu	37	6	136597398	136597398	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597398C>T	ENST00000531224.1	-	5	1517	c.1265G>A	c.(1264-1266)aGt>aAt	p.S422N	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S420N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S420N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S422N|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S420N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	422					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGTAGCAAAACTTTTACCCTG	0.418																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1264-1266)aGt>aAt		BCL2-associated transcription factor 1							251.0	244.0	246.0					6																	136597398		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597398C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1265G>A	6.37:g.136597398C>T	ENSP00000435210:p.Ser422Asn					BCLAF1_ENST00000353331.4_Missense_Mutation_p.S420N|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S420N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S422N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S420N	p.S422N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1517	-	Colorectal(23;0.24)		422					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1265G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	3.067	-0.191992	0.06299	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.25	1.12	0.20585	.	0.254375	0.34178	N	0.004190	T	0.01695	0.0054	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.43605	-0.9381	10	0.22109	T	0.4	-4.145	5.9033	0.18978	0.0:0.4228:0.1514:0.4258	.	420;420;422	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	N	422;420;422;420;420;422	ENSP00000435210:S422N;ENSP00000229446:S420N;ENSP00000435441:S422N;ENSP00000434826:S420N;ENSP00000376159:S420N;ENSP00000431734:S422N	ENSP00000229446:S420N	S	-	2	0	BCLAF1	136639091	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	0.577000	0.23758	0.009000	0.14813	0.650000	0.86243	AGT		0.418	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		40	207	0	0	0	1	0	40	207				
ADAMTS14	140766	broad.mit.edu	37	10	72517751	72517751	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:72517751C>T	ENST00000373207.1	+	20	2971	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R994W	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	991	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CATCCAGCAGCGGCAGGTGGT	0.652																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2980-2982)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 14							52.0	52.0	52.0					10																	72517751		2201	4294	6495	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72517751C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2971C>T	10.37:g.72517751C>T	ENSP00000362303:p.Arg991Trp					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R991W	p.R994W	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			20	2980	+			991			TSP type-1 4.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.2980C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681753	0.68042	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.80909	-1.43;-1.43	4.34	2.42	0.29668	.	0.068135	0.56097	D	0.000028	D	0.94178	0.8132	H	0.99847	4.84	0.45690	D	0.998604	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94645	0.7834	10	0.87932	D	0	.	12.6818	0.56926	0.2985:0.7015:0.0:0.0	.	991;994	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	W	994;991	ENSP00000362304:R994W;ENSP00000362303:R991W	ENSP00000362303:R991W	R	+	1	2	ADAMTS14	72187757	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	3.220000	0.51207	0.432000	0.26286	0.561000	0.74099	CGG		0.652	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		19	46	0	0	0	1	0	19	46				
APLNR	187	broad.mit.edu	37	11	57003380	57003380	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57003380C>T	ENST00000606794.1	-	1	1295	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	367					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.E367K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATGGATTTCTCGTGCATCTGT	0.647																																						ENST00000606794.1																			1	Substitution - Missense(1)	p.E367K(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1099-1101)Gag>Aag		apelin receptor							72.0	61.0	65.0					11																	57003380		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003380C>T	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.1099G>A	11.37:g.57003380C>T	ENSP00000475344:p.Glu367Lys						p.E367K	NM_005161.4	NP_005152.1	P35414	APJ_HUMAN			1	1295	-			367						Missense_Mutation	SNP	ENST00000606794.1	37	c.1099G>A	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258215	0.59321	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.69040	-0.37	5.18	5.18	0.71444	Apelin receptor, C-terminal (1);	0.102859	0.38436	N	0.001686	T	0.45074	0.1324	N	0.14661	0.345	0.30944	N	0.725487	P	0.45240	0.854	B	0.29524	0.103	T	0.51663	-0.8677	10	0.27785	T	0.31	-27.0663	18.3106	0.90199	0.0:1.0:0.0:0.0	.	367	P35414	APJ_HUMAN	K	367;248;286	ENSP00000257254:E367K	ENSP00000257254:E367K	E	-	1	0	APLNR	56759956	0.562000	0.26586	0.949000	0.38748	0.902000	0.53008	1.135000	0.31454	2.410000	0.81850	0.655000	0.94253	GAG		0.647	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		21	51	0	0	0	1	0	21	51				
DHX35	60625	broad.mit.edu	37	20	37601234	37601234	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37601234T>C	ENST00000252011.3	+	3	240	c.207T>C	c.(205-207)aaT>aaC	p.N69N	DHX35_ENST00000373323.4_Intron|DHX35_ENST00000373325.2_Silent_p.N69N	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	69	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGATAGAAAATTATCAGACAG	0.343																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(205-207)aaT>aaC		DEAH (Asp-Glu-Ala-His) box polypeptide 35							111.0	116.0	114.0					20																	37601234		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37601234T>C	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.207T>C	20.37:g.37601234T>C						DHX35_ENST00000373323.4_Intron|DHX35_ENST00000373325.2_Silent_p.N69N	p.N69N	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			3	240	+		Myeloproliferative disorder(115;0.00878)	69			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.207T>C	CCDS13310.1																																																																																				0.343	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		9	19	0	0	0	1	0	9	19				
UBR7	55148	broad.mit.edu	37	14	93685599	93685599	+	Silent	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:93685599T>A	ENST00000013070.6	+	8	1088	c.852T>A	c.(850-852)tcT>tcA	p.S284S	UBR7_ENST00000416753.1_Silent_p.S208S	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	284							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AATCAAAATCTGGCTGCAAAC	0.383																																						ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(850-852)tcT>tcA		ubiquitin protein ligase E3 component n-recognin 7 (putative)							57.0	56.0	57.0					14																	93685599		2203	4300	6503	SO:0001819	synonymous_variant	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93685599T>A	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.852T>A	14.37:g.93685599T>A						UBR7_ENST00000416753.1_Silent_p.S208S	p.S284S	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			8	1088	+			284					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Silent	SNP	ENST00000013070.6	37	c.852T>A	CCDS9909.1																																																																																				0.383	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		4	31	0	0	0	1	0	4	31				
C1R	715	broad.mit.edu	37	12	7188438	7188438	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7188438G>A	ENST00000542285.1	-	11	1509	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S				P00736	C1R_HUMAN	complement component 1, r subcomponent	506					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGTTCCTTGGGATACAGGGTG	0.612																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(1360-1362)Ccc>Tcc		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						62.0	67.0	65.0					12																	7188438		2183	4294	6477	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7188438G>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1360C>T	12.37:g.7188438G>A	ENSP00000438615:p.Pro454Ser						p.P454S			P00736	C1R_HUMAN			11	1509	-			506					A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1360C>T		.	.	.	.	.	.	.	.	.	.	G	7.821	0.717877	0.15372	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.87412	-2.25	4.99	4.99	0.66335	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	T	0.73583	0.3605	.	.	.	0.30150	N	0.803123	B	0.27013	0.166	B	0.30105	0.111	T	0.62286	-0.6886	9	0.02654	T	1	.	13.2714	0.60164	0.0:0.0:0.8413:0.1586	.	506	P00736	C1R_HUMAN	S	469;454	ENSP00000438615:P454S	ENSP00000290575:P469S	P	-	1	0	C1R	7058693	1.000000	0.71417	0.994000	0.49952	0.501000	0.33797	3.361000	0.52306	2.286000	0.76751	0.591000	0.81541	CCC		0.612	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		7	56	0	0	0	1	0	7	56				
ROCK2	9475	broad.mit.edu	37	2	11364495	11364495	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:11364495T>G	ENST00000315872.6	-	7	1408	c.960A>C	c.(958-960)gaA>gaC	p.E320D	ROCK2_ENST00000401753.1_Missense_Mutation_p.E77D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTTTGGAAATTTCTGCATCTT	0.323																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(958-960)gaA>gaC		Rho-associated, coiled-coil containing protein kinase 2							126.0	118.0	120.0					2																	11364495		1830	4084	5914	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11364495T>G	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.960A>C	2.37:g.11364495T>G	ENSP00000317985:p.Glu320Asp					ROCK2_ENST00000401753.1_Missense_Mutation_p.E77D	p.E320D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	7	1408	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		320			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.960A>C	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	6.000	0.368385	0.11352	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000431087	T;T;T	0.65916	-0.18;-0.18;-0.18	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052903	0.64402	D	0.000001	T	0.44138	0.1279	L	0.28776	0.89	0.44798	D	0.997804	B	0.06786	0.001	B	0.11329	0.006	T	0.34625	-0.9821	10	0.02654	T	1	.	10.3356	0.43847	0.0:0.0733:0.0:0.9267	.	320	O75116	ROCK2_HUMAN	D	320;77;147	ENSP00000317985:E320D;ENSP00000385509:E77D;ENSP00000395957:E147D	ENSP00000261535:E320D	E	-	3	2	ROCK2	11281946	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.186000	0.32078	2.166000	0.68216	0.402000	0.26972	GAA		0.323	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			29	36	0	0	0	1	0	29	36				
DOCK10	55619	broad.mit.edu	37	2	225662652	225662652	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225662652A>G	ENST00000258390.7	-	42	4608	c.4541T>C	c.(4540-4542)tTg>tCg	p.L1514S	DOCK10_ENST00000409592.3_Missense_Mutation_p.L1508S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1514					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCTTTTCATCAATGAATTTTG	0.368																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4522-4524)tTg>tCg		dedicator of cytokinesis 10							89.0	88.0	88.0					2																	225662652		1887	4116	6003	SO:0001583	missense	55619						GTP binding	g.chr2:225662652A>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4541T>C	2.37:g.225662652A>G	ENSP00000258390:p.Leu1514Ser					DOCK10_ENST00000258390.7_Missense_Mutation_p.L1514S	p.L1508S			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	42	4636	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1514					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4523T>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237851	0.58886	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.61274	3.45;0.12	5.95	4.74	0.60224	.	0.412070	0.25958	N	0.027202	T	0.68026	0.2956	M	0.76838	2.35	0.35739	D	0.818503	B;B;B;P	0.40032	0.148;0.03;0.415;0.699	B;B;B;P	0.48901	0.093;0.027;0.19;0.594	T	0.79097	-0.1943	10	0.87932	D	0	.	12.9148	0.58200	0.8648:0.1352:0.0:0.0	.	1514;368;1508;176	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	S	1508;1514;52	ENSP00000386694:L1508S;ENSP00000258390:L1514S	ENSP00000258390:L1514S	L	-	2	0	DOCK10	225370896	1.000000	0.71417	0.529000	0.27951	0.991000	0.79684	5.668000	0.68074	2.279000	0.76181	0.533000	0.62120	TTG		0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			22	27	0	0	0	1	0	22	27				
SEPT9	10801	broad.mit.edu	37	17	75398271	75398271	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:75398271G>T	ENST00000427177.1	+	3	333	c.207G>T	c.(205-207)aaG>aaT	p.K69N	SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.K50N|SEPT9_ENST00000423034.2_Missense_Mutation_p.K62N|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.K51N|SEPT9_ENST00000329047.8_Missense_Mutation_p.K51N|SEPT9_ENST00000427674.2_5'UTR	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	69					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGGGCGTGAAGAACTCAGAAC	0.672																																						ENST00000329047.8																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(151-153)aaG>aaT		septin 9							32.0	36.0	35.0					17																	75398271		1938	4137	6075	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75398271G>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.207G>T	17.37:g.75398271G>T	ENSP00000391249:p.Lys69Asn					SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.K50N|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.K62N|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.K69N|SEPT9_ENST00000590294.1_Missense_Mutation_p.K51N	p.K51N	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		2	965	+			69					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.153G>T	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532513	0.45073	.	.	ENSG00000184640	ENST00000427177;ENST00000329047;ENST00000423034	T;T;T	0.36699	1.24;1.25;1.26	4.89	3.93	0.45458	.	8.207450	0.00550	U	0.000249	T	0.35653	0.0939	N	0.19112	0.55	0.80722	D	1	P;P;P;P	0.38767	0.634;0.496;0.646;0.514	B;B;B;B	0.41894	0.369;0.168;0.115;0.115	T	0.02852	-1.1102	10	0.59425	D	0.04	.	12.1	0.53778	0.0837:0.0:0.9163:0.0	.	50;62;51;69	Q9UHD8-7;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;SEPT9_HUMAN	N	69;51;62	ENSP00000391249:K69N;ENSP00000329161:K51N;ENSP00000405877:K62N	ENSP00000329161:K51N	K	+	3	2	SEPT9	72909866	1.000000	0.71417	0.975000	0.42487	0.867000	0.49689	2.852000	0.48310	1.059000	0.40554	0.555000	0.69702	AAG		0.672	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		26	43	1	0	3.73808e-20	1	5.11168e-20	26	43				
SLC4A3	6508	broad.mit.edu	37	2	220501573	220501573	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220501573G>A	ENST00000358055.3	+	16	3024	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	SLC4A3_ENST00000373760.2_Missense_Mutation_p.E838K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E865K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E838K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E865K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	838	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTCATCTACGAGACCTTCTA	0.582																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2512-2514)Gag>Aag		solute carrier family 4 (anion exchanger), member 3							131.0	127.0	128.0					2																	220501573		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501573G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2512G>A	2.37:g.220501573G>A	ENSP00000350756:p.Glu838Lys					SLC4A3_ENST00000373760.2_Missense_Mutation_p.E838K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E865K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E865K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E838K	p.E838K			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	3024	+		Renal(207;0.0183)	838			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2512G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256254	0.95336	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	4.32	4.32	0.51571	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89615	0.6766	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.91270	0.5043	10	0.87932	D	0	.	17.347	0.87312	0.0:0.0:1.0:0.0	.	542;838;865	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	K	838;838;865;865;101;838	ENSP00000350756:E838K;ENSP00000362865:E838K;ENSP00000273063:E865K;ENSP00000362867:E865K;ENSP00000314006:E838K	ENSP00000273063:E865K	E	+	1	0	SLC4A3	220209817	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	9.454000	0.97621	2.377000	0.81083	0.643000	0.83706	GAG		0.582	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		37	90	0	0	0	1	0	37	90				
CPD	1362	broad.mit.edu	37	17	28776572	28776572	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28776572T>G	ENST00000225719.4	+	13	2951	c.2875T>G	c.(2875-2877)Ttg>Gtg	p.L959V	CPD_ENST00000543464.2_Splice_Site_p.L712V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	959	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTTTGAAAGTTTGGGACAGAG	0.348																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.e13-1		carboxypeptidase D							102.0	96.0	98.0					17																	28776572		2203	4300	6503	SO:0001630	splice_region_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28776572T>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2874-1T>G	17.37:g.28776572T>G						CPD_ENST00000543464.2_Splice_Site_p.L712_splice	p.L959_splice	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			13	2951	+			959			Carboxypeptidase-like 3.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Splice_Site	SNP	ENST00000225719.4	37	c.2873_splice	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.761309	0.49468	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.11385	2.78;2.78	5.23	5.23	0.72850	Peptidase M14, carboxypeptidase A (2);	0.000000	0.64402	D	0.000001	T	0.18045	0.0433	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.996;0.999	T	0.04178	-1.0971	10	0.31617	T	0.26	-26.3197	8.1243	0.30988	0.0:0.1568:0.0:0.8432	.	712;959	F5GZH6;O75976	.;CBPD_HUMAN	V	959;712	ENSP00000225719:L959V;ENSP00000444443:L712V	ENSP00000225719:L959V	L	+	1	2	CPD	25800698	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.307000	0.33516	2.100000	0.63781	0.482000	0.46254	TTG		0.348	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	Missense_Mutation	8	70	0	0	0	1	0	8	70				
SLC7A4	6545	broad.mit.edu	37	22	21385316	21385316	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21385316C>A	ENST00000382932.2	-	2	853	c.786G>T	c.(784-786)caG>caT	p.Q262H	SLC7A4_ENST00000403586.1_Missense_Mutation_p.Q262H|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	262					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCGTGGGTTCTGGGCCTCCT	0.622																																						ENST00000382932.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(784-786)caG>caT		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						51.0	48.0	49.0					22																	21385316		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21385316C>A	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.786G>T	22.37:g.21385316C>A	ENSP00000372390:p.Gln262His					SLC7A4_ENST00000403586.1_Missense_Mutation_p.Q262H	p.Q262H	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	853	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	262					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.786G>T	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243523	0.39697	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.90069	-2.61;-2.61	5.28	0.387	0.16259	Amino acid permease domain (1);	0.590057	0.18078	N	0.152404	D	0.83640	0.5298	L	0.48935	1.535	0.21740	N	0.999564	B	0.16396	0.017	B	0.26614	0.071	T	0.74562	-0.3624	10	0.54805	T	0.06	.	8.3757	0.32442	0.0:0.6219:0.0:0.3781	.	262	O43246	CTR4_HUMAN	H	262	ENSP00000384278:Q262H;ENSP00000372390:Q262H	ENSP00000372390:Q262H	Q	-	3	2	SLC7A4	19715316	0.805000	0.28982	0.492000	0.27490	0.764000	0.43329	0.274000	0.18680	0.207000	0.20607	0.561000	0.74099	CAG		0.622	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		20	34	1	0	8.10497e-08	1	9.43176e-08	20	34				
KATNAL2	83473	broad.mit.edu	37	18	44579309	44579309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:44579309G>T	ENST00000356157.7	+	3	199	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_5'UTR					katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						ACGACGGTTTGAAGTTTGTGA	0.333																																						ENST00000356157.7																			0				central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						c.(181-183)Gaa>Taa		katanin p60 subunit A-like 2							82.0	83.0	82.0					18																	44579309		2201	4300	6501	SO:0001587	stop_gained	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44579309G>T	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000356157.7:c.181G>T	18.37:g.44579309G>T	ENSP00000348478:p.Glu61*					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_5'UTR	p.E61*			Q8IYT4	KATL2_HUMAN			3	199	+			61						Nonsense_Mutation	SNP	ENST00000356157.7	37	c.181G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.294382	0.95546	.	.	ENSG00000167216	ENST00000356157	.	.	.	5.57	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.7953	0.85600	0.0:0.129:0.871:0.0	.	.	.	.	X	61	.	ENSP00000348478:E61X	E	+	1	0	KATNAL2	42833307	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.305000	0.78891	1.479000	0.48272	0.655000	0.94253	GAA		0.333	KATNAL2-010	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000446326.2	NM_031303		17	36	1	0	9.16793e-09	1	1.08598e-08	17	36				
CNOT1	23019	broad.mit.edu	37	16	58589167	58589167	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:58589167C>A	ENST00000317147.5	-	21	3211	c.2879G>T	c.(2878-2880)aGa>aTa	p.R960I	CNOT1_ENST00000441024.2_Missense_Mutation_p.R960I|CNOT1_ENST00000569240.1_Missense_Mutation_p.R955I|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	960	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTTTTTAAATCTATCTAGTGC	0.468																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2878-2880)aGa>aTa		CCR4-NOT transcription complex, subunit 1							82.0	82.0	82.0					16																	58589167		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58589167C>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2879G>T	16.37:g.58589167C>A	ENSP00000320949:p.Arg960Ile					CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.R955I|CNOT1_ENST00000441024.2_Missense_Mutation_p.R960I	p.R960I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3211	-			960					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2879G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391251	0.95988	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.50001	0.8;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	M	0.87180	2.865	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.997	D;D;D	0.74674	0.983;0.96;0.984	T	0.77236	-0.2662	10	0.66056	D	0.02	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	960;960;955	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	I	960;389;955;960	ENSP00000320949:R960I;ENSP00000413113:R960I	ENSP00000320949:R960I	R	-	2	0	CNOT1	57146668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	AGA		0.468	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		34	41	1	0	2.68265e-12	1	3.37613e-12	34	41				
CCDC129	223075	broad.mit.edu	37	7	31692174	31692174	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31692174A>C	ENST00000407970.3	+	14	2904	c.2866A>C	c.(2866-2868)Aat>Cat	p.N956H	CCDC129_ENST00000451887.2_Missense_Mutation_p.N982H|CCDC129_ENST00000409210.1_Missense_Mutation_p.N864H|CCDC129_ENST00000319386.3_Missense_Mutation_p.N808H	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	956										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACACTATTCAAATCTGCATCA	0.458																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(2422-2424)Aat>Cat		coiled-coil domain containing 129							40.0	36.0	37.0					7																	31692174		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31692174A>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2866A>C	7.37:g.31692174A>C	ENSP00000384416:p.Asn956His					CCDC129_ENST00000409210.1_Missense_Mutation_p.N864H|CCDC129_ENST00000407970.3_Missense_Mutation_p.N956H|CCDC129_ENST00000451887.2_Missense_Mutation_p.N982H	p.N808H			Q6ZRS4	CC129_HUMAN			14	3415	+			956			Cys-rich.		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2422A>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563174	0.45694	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.20598	2.06;2.34;2.37;2.07	4.33	-1.19	0.09585	.	1.059300	0.07377	N	0.886848	T	0.37265	0.0997	M	0.67953	2.075	0.09310	N	1	D;B;B;D	0.76494	0.998;0.019;0.019;0.999	D;B;B;D	0.67548	0.947;0.022;0.022;0.952	T	0.26087	-1.0113	10	0.72032	D	0.01	-2.0257	4.3598	0.11196	0.4765:0.332:0.1915:0.0	.	982;966;956;808	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	H	808;956;982;966;864	ENSP00000313062:N808H;ENSP00000384416:N956H;ENSP00000395835:N982H;ENSP00000387214:N864H	ENSP00000313062:N808H	N	+	1	0	CCDC129	31658699	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.048000	0.11944	-0.288000	0.09051	0.459000	0.35465	AAT		0.458	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		5	9	0	0	0	1	0	5	9				
LIMCH1	22998	broad.mit.edu	37	4	41621302	41621302	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41621302G>A	ENST00000313860.7	+	8	834	c.780G>A	c.(778-780)ccG>ccA	p.P260P	LIMCH1_ENST00000513024.1_Silent_p.P101P|LIMCH1_ENST00000381753.4_Silent_p.P106P|LIMCH1_ENST00000508501.1_Silent_p.P260P|LIMCH1_ENST00000509638.1_Silent_p.P101P|LIMCH1_ENST00000514096.1_Silent_p.P113P|LIMCH1_ENST00000512946.1_Silent_p.P260P|LIMCH1_ENST00000512820.1_Silent_p.P260P|LIMCH1_ENST00000511496.1_Silent_p.P101P|LIMCH1_ENST00000509454.1_Silent_p.P108P|LIMCH1_ENST00000503057.1_Silent_p.P101P|LIMCH1_ENST00000512632.1_Silent_p.P260P|LIMCH1_ENST00000509277.1_Silent_p.P106P|LIMCH1_ENST00000396595.3_Silent_p.P106P	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	260					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATGGTGAGCCGAAATCAGCAG	0.532																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(778-780)ccG>ccA		LIM and calponin homology domains 1							145.0	147.0	147.0					4																	41621302		2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41621302G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.780G>A	4.37:g.41621302G>A						LIMCH1_ENST00000503057.1_Silent_p.P101P|LIMCH1_ENST00000509277.1_Silent_p.P106P|LIMCH1_ENST00000514096.1_Silent_p.P113P|LIMCH1_ENST00000396595.3_Silent_p.P106P|LIMCH1_ENST00000508501.1_Silent_p.P260P|LIMCH1_ENST00000509638.1_Silent_p.P101P|LIMCH1_ENST00000381753.4_Silent_p.P106P|LIMCH1_ENST00000513024.1_Silent_p.P101P|LIMCH1_ENST00000509454.1_Silent_p.P108P|LIMCH1_ENST00000512632.1_Silent_p.P260P|LIMCH1_ENST00000511496.1_Silent_p.P101P|LIMCH1_ENST00000512946.1_Silent_p.P260P|LIMCH1_ENST00000512820.1_Silent_p.P260P	p.P260P	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			8	834	+			260					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.780G>A	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	0.649	-0.810366	0.02798	.	.	ENSG00000064042	ENST00000508466	.	.	.	5.59	-5.45	0.02616	.	.	.	.	.	T	0.47875	0.1469	.	.	.	0.48288	D	0.999625	.	.	.	.	.	.	T	0.47959	-0.9076	4	.	.	.	-7.0308	6.9268	0.24419	0.24:0.5269:0.1479:0.0853	.	.	.	.	Q	95	.	.	R	+	2	0	LIMCH1	41316059	0.764000	0.28473	0.357000	0.25798	0.013000	0.08279	-0.170000	0.09897	-1.069000	0.03153	-0.300000	0.09419	CGA		0.532	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		97	148	0	0	0	1	0	97	148				
PRAMEF2	65122	broad.mit.edu	37	1	12921510	12921510	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12921510G>A	ENST00000240189.2	+	4	1388	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	434					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R434L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCACTTCGGGCTGAGCTG	0.552																																						ENST00000240189.2																			1	Substitution - Missense(1)	p.R434L(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1300-1302)cGg>cAg		PRAME family member 2							60.0	71.0	67.0					1																	12921510		2171	4269	6440	SO:0001583	missense	65122							g.chr1:12921510G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1301G>A	1.37:g.12921510G>A	ENSP00000240189:p.Arg434Gln						p.R434Q	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1388	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	434						Missense_Mutation	SNP	ENST00000240189.2	37	c.1301G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	1.877	-0.458820	0.04508	.	.	ENSG00000120952	ENST00000240189	T	0.39229	1.09	0.824	-0.326	0.12698	.	1.015480	0.07922	N	0.976068	T	0.21347	0.0514	N	0.14661	0.345	0.09310	N	1	B	0.19583	0.037	B	0.14578	0.011	T	0.21381	-1.0247	10	0.25751	T	0.34	.	3.3454	0.07133	0.3379:0.0:0.6621:0.0	.	434	O60811	PRAM2_HUMAN	Q	434	ENSP00000240189:R434Q	ENSP00000240189:R434Q	R	+	2	0	PRAMEF2	12844097	0.000000	0.05858	0.013000	0.15412	0.017000	0.09413	-0.844000	0.04345	-0.119000	0.11830	0.173000	0.16961	CGG		0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		72	61	0	0	0	1	0	72	61				
CETN1	1068	broad.mit.edu	37	18	580627	580627	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:580627C>A	ENST00000327228.3	+	1	261	c.219C>A	c.(217-219)atC>atA	p.I73I		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGAAAATGATCTCCGAGGTGG	0.552																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(217-219)atC>atA		centrin, EF-hand protein, 1							76.0	62.0	67.0					18																	580627		2203	4300	6503	SO:0001819	synonymous_variant	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580627C>A	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.219C>A	18.37:g.580627C>A							p.I73I	NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN			1	261	+			73			EF-hand 2.		B2R536	Silent	SNP	ENST00000327228.3	37	c.219C>A	CCDS11820.1																																																																																				0.552	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		20	37	1	0	2.37509e-13	1	3.04217e-13	20	37				
KBTBD6	89890	broad.mit.edu	37	13	41706525	41706525	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41706525C>A	ENST00000379485.1	-	1	357	c.123G>T	c.(121-123)aaG>aaT	p.K41N	KBTBD6_ENST00000499385.2_Missense_Mutation_p.K41N	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	41										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GGGCCGTGTCCTTTAATTCCT	0.607																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(121-123)aaG>aaT		kelch repeat and BTB (POZ) domain containing 6							115.0	120.0	119.0					13																	41706525		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41706525C>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.123G>T	13.37:g.41706525C>A	ENSP00000368799:p.Lys41Asn					KBTBD6_ENST00000499385.2_Missense_Mutation_p.K41N	p.K41N	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	357	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	41					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.123G>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	13.90	2.375483	0.42105	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.75704	-0.96;-0.49	3.65	3.65	0.41850	BTB/POZ fold (2);	0.065053	0.64402	D	0.000019	T	0.52338	0.1728	N	0.14661	0.345	0.26823	N	0.968744	B;P	0.40144	0.001;0.704	B;B	0.33042	0.001;0.157	T	0.47302	-0.9128	10	0.20046	T	0.44	.	13.2074	0.59805	0.0:1.0:0.0:0.0	.	41;41	F5GZN7;Q86V97	.;KBTB6_HUMAN	N	41	ENSP00000368799:K41N;ENSP00000444326:K41N	ENSP00000368799:K41N	K	-	3	2	KBTBD6	40604525	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	0.965000	0.29319	2.061000	0.61500	0.313000	0.20887	AAG		0.607	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		81	138	1	0	2.28164e-27	1	3.2341e-27	81	138				
DSC1	1823	broad.mit.edu	37	18	28712606	28712606	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28712606C>A	ENST00000257198.5	-	14	2424	c.2163G>T	c.(2161-2163)aaG>aaT	p.K721N	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.K721N	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	721					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAAAACATTTCTTGACTGTTC	0.333																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2161-2163)aaG>aaT		desmocollin 1							127.0	120.0	122.0					18																	28712606		2202	4300	6502	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28712606C>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2163G>T	18.37:g.28712606C>A	ENSP00000257198:p.Lys721Asn					DSC1_ENST00000257198.5_Missense_Mutation_p.K721N|RP11-408H20.2_ENST00000581836.1_RNA	p.K721N	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		14	2424	-			721					Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2163G>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126352	0.56721	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60040	0.22;0.25	5.84	2.59	0.31030	.	0.115915	0.38326	N	0.001727	T	0.57184	0.2036	L	0.55481	1.735	0.38332	D	0.943836	P;D	0.53619	0.896;0.961	P;P	0.53224	0.721;0.617	T	0.56950	-0.7894	10	0.45353	T	0.12	.	4.8765	0.13658	0.0:0.2262:0.4144:0.3594	.	721;721	Q08554;Q9HB00	DSC1_HUMAN;.	N	721	ENSP00000257197:K721N;ENSP00000257198:K721N	ENSP00000257197:K721N	K	-	3	2	DSC1	26966604	0.971000	0.33674	0.971000	0.41717	0.613000	0.37349	0.459000	0.21908	0.337000	0.23665	-0.140000	0.14226	AAG		0.333	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		14	35	1	0	0.00185496	1	0.00194308	14	35				
FIGNL1	63979	broad.mit.edu	37	7	50513646	50513646	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50513646T>G	ENST00000419119.1	-	2	2893	c.1340A>C	c.(1339-1341)aAa>aCa	p.K447T	FIGNL1_ENST00000433017.1_Missense_Mutation_p.K447T|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K447T|FIGNL1_ENST00000356889.4_Missense_Mutation_p.K447T			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	447					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AATTAGAGTTTTACCAGTCCC	0.458																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1339-1341)aAa>aCa		fidgetin-like 1							52.0	54.0	53.0					7																	50513646		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513646T>G	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1340A>C	7.37:g.50513646T>G	ENSP00000410811:p.Lys447Thr					FIGNL1_ENST00000356889.4_Missense_Mutation_p.K447T|FIGNL1_ENST00000433017.1_Missense_Mutation_p.K447T|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K447T	p.K447T			Q6PIW4	FIGL1_HUMAN			2	2893	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	447					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1340A>C	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302283	0.81136	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71	5.99	5.99	0.97316	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	-19.4678	15.6754	0.77316	0.0:0.0:0.0:1.0	.	447	Q6PIW4	FIGL1_HUMAN	T	447	ENSP00000349356:K447T;ENSP00000378924:K447T;ENSP00000399997:K447T;ENSP00000410811:K447T	ENSP00000349356:K447T	K	-	2	0	FIGNL1	50481140	1.000000	0.71417	0.681000	0.30009	0.998000	0.95712	6.290000	0.72712	2.291000	0.77112	0.533000	0.62120	AAA		0.458	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		19	24	0	0	0	1	0	19	24				
MAP1B	4131	broad.mit.edu	37	5	71489773	71489773	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71489773G>T	ENST00000296755.7	+	5	889	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	197					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGGACTGGAAGAACTCCAATC	0.433																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(589-591)aaG>aaT		microtubule-associated protein 1B							91.0	88.0	89.0					5																	71489773		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71489773G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.591G>T	5.37:g.71489773G>T	ENSP00000296755:p.Lys197Asn						p.K197N	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	889	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	197					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.591G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482934	0.44147	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.20200	2.09;3.55;2.09	6.08	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.39253	0.1071	L	0.59436	1.845	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	T	0.11084	-1.0602	10	0.62326	D	0.03	-22.6837	10.5904	0.45306	0.2316:0.0:0.7684:0.0	.	71;197	A2BDK6;P46821	.;MAP1B_HUMAN	N	197;214;71	ENSP00000296755:K197N;ENSP00000423444:K214N;ENSP00000423416:K71N	ENSP00000296755:K197N	K	+	3	2	MAP1B	71525529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.726000	0.47302	0.811000	0.34303	0.591000	0.81541	AAG		0.433	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		30	46	1	0	2.70662e-09	1	3.24368e-09	30	46				
CHRM5	1133	broad.mit.edu	37	15	34356260	34356260	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34356260C>A	ENST00000383263.5	+	3	2012	c.1342C>A	c.(1342-1344)Ctc>Atc	p.L448I	CHRM5_ENST00000557872.1_Missense_Mutation_p.L448I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	448					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAGTGCCATTCTCCTGGCCTT	0.512																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(1342-1344)Ctc>Atc		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						183.0	140.0	154.0					15																	34356260		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34356260C>A		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1342C>A	15.37:g.34356260C>A	ENSP00000372750:p.Leu448Ile					CHRM5_ENST00000557872.1_Missense_Mutation_p.L448I	p.L448I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	2012	+		all_lung(180;1.76e-08)	448					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.1342C>A	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200844	0.79015	.	.	ENSG00000184984	ENST00000383263	T	0.73897	-0.79	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.139445	0.49916	D	0.000127	D	0.88647	0.6493	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89788	0.3966	10	0.87932	D	0	-16.1321	19.4929	0.95059	0.0:1.0:0.0:0.0	.	448	P08912	ACM5_HUMAN	I	448	ENSP00000372750:L448I	ENSP00000372750:L448I	L	+	1	0	CHRM5	32143552	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.651000	0.83577	2.835000	0.97688	0.650000	0.86243	CTC		0.512	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			31	54	1	0	6.38683e-12	1	8.00204e-12	31	54				
OPHN1	4983	broad.mit.edu	37	X	67426472	67426472	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67426472C>A	ENST00000355520.5	-	10	1517	c.876G>T	c.(874-876)gaG>gaT	p.E292D	OPHN1_ENST00000540071.1_Missense_Mutation_p.E292D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	292	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGGTCTCTTTCTCATACTGGC	0.413																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(874-876)gaG>gaT		oligophrenin 1							254.0	200.0	218.0					X																	67426472		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67426472C>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.876G>T	X.37:g.67426472C>A	ENSP00000347710:p.Glu292Asp					OPHN1_ENST00000540071.1_Missense_Mutation_p.E292D	p.E292D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			10	1517	-			292			PH.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.876G>T	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	C	7.608	0.674286	0.14841	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.40476	1.03;1.03	4.58	3.72	0.42706	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.500497	0.21167	N	0.079047	T	0.14700	0.0355	N	0.04880	-0.145	0.37689	D	0.923789	B;P	0.39480	0.187;0.675	B;B	0.30855	0.08;0.121	T	0.10382	-1.0632	10	0.10902	T	0.67	.	6.1834	0.20484	0.0:0.7723:0.0:0.2277	.	292;292	F5H2E3;O60890	.;OPHN1_HUMAN	D	292	ENSP00000347710:E292D;ENSP00000438617:E292D	ENSP00000347710:E292D	E	-	3	2	OPHN1	67343197	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.609000	0.24238	1.073000	0.40885	0.429000	0.28392	GAG		0.413	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		20	53	1	0	2.39187e-15	1	3.14903e-15	20	53				
RIF1	55183	broad.mit.edu	37	2	152303026	152303026	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152303026G>T	ENST00000243326.5	+	19	2664	c.2181G>T	c.(2179-2181)gaG>gaT	p.E727D	RIF1_ENST00000428287.2_Missense_Mutation_p.E727D|RIF1_ENST00000444746.2_Missense_Mutation_p.E727D|RIF1_ENST00000453091.2_Missense_Mutation_p.E727D|RIF1_ENST00000430328.2_Missense_Mutation_p.E727D			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CAGCAGAAGAGAACTTGTGCT	0.408																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2179-2181)gaG>gaT		RAP1 interacting factor homolog (yeast)							169.0	164.0	166.0					2																	152303026		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152303026G>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2181G>T	2.37:g.152303026G>T	ENSP00000243326:p.Glu727Asp					RIF1_ENST00000428287.2_Missense_Mutation_p.E727D|RIF1_ENST00000453091.2_Missense_Mutation_p.E727D|RIF1_ENST00000444746.2_Missense_Mutation_p.E727D|RIF1_ENST00000430328.2_Missense_Mutation_p.E727D	p.E727D			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	19	2664	+			727					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2181G>T	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.16|14.16	2.453007|2.453007	0.43531|0.43531	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	D;D;D;D;D|.	0.98914|.	-5.23;-5.23;-5.23;-5.23;-5.23|.	5.45|5.45	1.07|1.07	0.20283|0.20283	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.60130|.	0.2245|.	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	P;P|.	0.37500|.	0.528;0.597|.	B;B|.	0.40506|.	0.287;0.331|.	T|.	0.55509|.	-0.8130|.	10|.	0.32370|0.45353	T|T	0.25|0.12	-7.7129|-7.7129	5.5656|5.5656	0.17168|0.17168	0.4569:0.1409:0.4022:0.0|0.4569:0.1409:0.4022:0.0	.|.	727;727|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	D|X	727|719	ENSP00000390181:E727D;ENSP00000414615:E727D;ENSP00000415691:E727D;ENSP00000243326:E727D;ENSP00000416123:E727D|.	ENSP00000243326:E727D|ENSP00000390486:E719X	E|E	+|+	3|1	2|0	RIF1|RIF1	152011272|152011272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.547000|1.547000	0.36190|0.36190	0.278000|0.278000	0.22164|0.22164	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.408	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			23	46	1	0	1.10513e-12	1	1.40022e-12	23	46				
PMAIP1	5366	broad.mit.edu	37	18	57569889	57569889	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57569889C>T	ENST00000316660.6	+	2	299	c.69C>T	c.(67-69)gtC>gtT	p.V23V	PMAIP1_ENST00000269518.9_Nonsense_Mutation_p.R74*	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|defense response to virus (GO:0051607)|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)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|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 release of cytochrome c from mitochondria (GO:0090200)|proteasomal protein catabolic process (GO:0010498)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to dsRNA (GO:0043331)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)	1		Colorectal(73;0.0946)				AGCTGGAAGTCGAGTGTGCTA	0.433																																						ENST00000269518.9																			0				breast(1)	1						c.(220-222)Cga>Tga		phorbol-12-myristate-13-acetate-induced protein 1							109.0	106.0	107.0					18																	57569889		2203	4300	6503	SO:0001819	synonymous_variant	5366				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding	g.chr18:57569889C>T	D90070	CCDS11975.1	18q21.32	2014-03-07			ENSG00000141682	ENSG00000141682			9108	protein-coding gene	gene with protein product		604959				2398525, 12879012	Standard	NM_021127		Approved	APR, NOXA	uc002lic.2	Q13794	OTTHUMG00000132765	ENST00000316660.6:c.69C>T	18.37:g.57569889C>T						PMAIP1_ENST00000316660.6_Silent_p.V23V	p.R74*			Q13794	APR_HUMAN			3	382	+		Colorectal(73;0.0946)	0					B2R4T7|Q8N589	Nonsense_Mutation	SNP	ENST00000316660.6	37	c.220C>T	CCDS11975.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347346	0.61183	.	.	ENSG00000141682	ENST00000269518	.	.	.	5.18	-6.35	0.01975	.	3.159690	0.01638	N	0.023889	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.3095	0.04183	0.1048:0.199:0.3363:0.3598	.	.	.	.	X	74	.	ENSP00000269518:R74X	R	+	1	2	PMAIP1	55720869	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.651000	0.00857	-1.314000	0.02300	-0.868000	0.02995	CGA		0.433	PMAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256137.1	NM_021127		24	38	0	0	0	1	0	24	38				
NTN4	59277	broad.mit.edu	37	12	96052892	96052892	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:96052892G>T	ENST00000343702.4	-	10	2305	c.1857C>A	c.(1855-1857)gtC>gtA	p.V619V	NTN4_ENST00000344911.4_Silent_p.V582V|NTN4_ENST00000553059.1_Silent_p.V596V|PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000538383.1_Silent_p.V582V	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	619	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AAATATCCATGACTTTTCTTC	0.368																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1855-1857)gtC>gtA		netrin 4							142.0	135.0	138.0					12																	96052892		2203	4300	6503	SO:0001819	synonymous_variant	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96052892G>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1857C>A	12.37:g.96052892G>T						PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000344911.4_Silent_p.V582V|NTN4_ENST00000538383.1_Silent_p.V582V|NTN4_ENST00000553059.1_Silent_p.V596V	p.V619V	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			10	2305	-			619			NTR.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Silent	SNP	ENST00000343702.4	37	c.1857C>A	CCDS9054.1																																																																																				0.368	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		16	39	1	0	6.31663e-08	1	7.35827e-08	16	39				
MCM3AP	8888	broad.mit.edu	37	21	47705107	47705107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47705107G>A	ENST00000397708.1	-	2	348	c.94C>T	c.(94-96)Cga>Tga	p.R32*	YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.R32*			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	32					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGACCAAATCGAAATGGCGGC	0.463																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(94-96)Cga>Tga		minichromosome maintenance complex component 3 associated protein							73.0	75.0	74.0					21																	47705107		2203	4300	6503	SO:0001587	stop_gained	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47705107G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.94C>T	21.37:g.47705107G>A	ENSP00000380820:p.Arg32*					MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.R32*	p.R32*			O60318	MCM3A_HUMAN			2	348	-	Breast(49;0.112)		32					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Nonsense_Mutation	SNP	ENST00000397708.1	37	c.94C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945465	0.73672	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000426537	.	.	.	5.04	3.19	0.36642	.	0.708209	0.13075	N	0.415761	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1106	12.8172	0.57671	0.0:0.3149:0.6851:0.0	.	.	.	.	X	32	.	ENSP00000291688:R32X	R	-	1	2	MCM3AP	46529535	1.000000	0.71417	0.039000	0.18376	0.822000	0.46500	3.186000	0.50942	0.669000	0.31146	0.561000	0.74099	CGA		0.463	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		20	47	0	0	0	1	0	20	47				
HCRTR2	3062	broad.mit.edu	37	6	55113604	55113604	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:55113604C>T	ENST00000370862.3	+	2	727	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	131					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAAGTGATTCCTTATCTACA	0.428																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(391-393)Cct>Tct		hypocretin (orexin) receptor 2							211.0	201.0	204.0					6																	55113604		2203	4299	6502	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113604C>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.391C>T	6.37:g.55113604C>T	ENSP00000359899:p.Pro131Ser						p.P131S	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	727	+	Lung NSC(77;0.107)|Renal(3;0.122)		131					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.391C>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344117	0.61073	.	.	ENSG00000137252	ENST00000370862	T	0.19105	2.17	4.65	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.053209	0.85682	N	0.000000	T	0.28896	0.0717	M	0.66297	2.02	0.80722	D	1	P;D	0.62365	0.898;0.991	P;D	0.65323	0.823;0.934	T	0.03121	-1.1070	10	0.40728	T	0.16	.	13.0928	0.59174	0.0:0.921:0.0:0.079	.	131;131	Q548Y0;O43614	.;OX2R_HUMAN	S	131	ENSP00000359899:P131S	ENSP00000359899:P131S	P	+	1	0	HCRTR2	55221563	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.445000	0.80570	1.072000	0.40860	0.555000	0.69702	CCT		0.428	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			46	84	0	0	0	1	0	46	84				
KIF1B	23095	broad.mit.edu	37	1	10318596	10318596	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:10318596A>C	ENST00000377086.1	+	4	431	c.229A>C	c.(229-231)Att>Ctt	p.I77L	KIF1B_ENST00000377093.4_Missense_Mutation_p.I77L|KIF1B_ENST00000377083.1_Missense_Mutation_p.I77L|KIF1B_ENST00000377081.1_Missense_Mutation_p.I77L|KIF1B_ENST00000263934.6_Missense_Mutation_p.I77L			O60333	KIF1B_HUMAN	kinesin family member 1B	77	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTACAATGACATTGGCAAGGA	0.373																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(229-231)Att>Ctt		kinesin family member 1B							157.0	147.0	150.0					1																	10318596		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10318596A>C	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.229A>C	1.37:g.10318596A>C	ENSP00000366290:p.Ile77Leu					KIF1B_ENST00000263934.6_Missense_Mutation_p.I77L|KIF1B_ENST00000377081.1_Missense_Mutation_p.I77L|KIF1B_ENST00000377083.1_Missense_Mutation_p.I77L|KIF1B_ENST00000377093.4_Missense_Mutation_p.I77L	p.I77L			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	4	431	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	77			Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.229A>C		.	.	.	.	.	.	.	.	.	.	A	17.06	3.292431	0.59976	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24	5.5	5.5	0.81552	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.85066	0.5612	N	0.05351	-0.065	0.80722	D	1	B;B;P;B;B;B;B	0.42961	0.002;0.004;0.795;0.025;0.004;0.008;0.003	P;B;D;P;B;B;B	0.78314	0.481;0.192;0.991;0.717;0.135;0.309;0.168	T	0.79945	-0.1589	10	0.02654	T	1	.	15.6166	0.76773	1.0:0.0:0.0:0.0	.	77;77;77;77;77;77;77	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	L	77	ENSP00000263934:I77L;ENSP00000366297:I77L;ENSP00000366290:I77L;ENSP00000366287:I77L;ENSP00000366284:I77L	ENSP00000263934:I77L	I	+	1	0	KIF1B	10241183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.253000	0.95501	2.090000	0.63153	0.377000	0.23210	ATT		0.373	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			5	74	0	0	0	1	0	5	74				
DST	667	broad.mit.edu	37	6	56484298	56484298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56484298G>A	ENST00000370765.6	-	23	4641	c.4534C>T	c.(4534-4536)Cga>Tga	p.R1512*	DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTCATCTCGAAAAGAATGA	0.338																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4534-4536)Cga>Tga		dystonin																																				SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56484298G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4534C>T	6.37:g.56484298G>A	ENSP00000359801:p.Arg1512*					DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	p.R1512*	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	4641	-	Lung NSC(77;0.103)		5191					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000370765.6	37	c.4534C>T	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	37	6.401494	0.97537	.	.	ENSG00000151914	ENST00000370765	.	.	.	5.46	2.7	0.31948	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.7191	0.40291	0.0662:0.0:0.6827:0.2511	.	.	.	.	X	1512	.	ENSP00000359801:R1512X	R	-	1	2	DST	56592257	0.055000	0.20627	0.000000	0.03702	0.004000	0.04260	2.415000	0.44635	0.262000	0.21774	-0.238000	0.12139	CGA		0.338	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		8	21	0	0	0	1	0	8	21				
MICAL1	64780	broad.mit.edu	37	6	109766179	109766179	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109766179C>A	ENST00000358807.3	-	23	3212	c.2901G>T	c.(2899-2901)aaG>aaT	p.K967N	MICAL1_ENST00000368952.4_Missense_Mutation_p.K986N|MICAL1_ENST00000358577.3_Missense_Mutation_p.K881N	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	967					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCCATAGTTTCTTTTGCTGTT	0.542																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2956-2958)aaG>aaT		microtubule associated monooxygenase, calponin and LIM domain containing 1							114.0	114.0	114.0					6																	109766179		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766179C>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2901G>T	6.37:g.109766179C>A	ENSP00000351664:p.Lys967Asn					MICAL1_ENST00000358577.3_Missense_Mutation_p.K881N|MICAL1_ENST00000358807.3_Missense_Mutation_p.K967N	p.K986N			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	23	3248	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	967					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2958G>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893913	0.33442	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.45668	0.89;0.89;0.89	5.61	3.82	0.43975	Domain of unknown function DUF3585 (1);	0.331515	0.29139	N	0.013028	T	0.14743	0.0356	L	0.40543	1.245	0.31589	N	0.65413	B;P;B	0.35155	0.026;0.487;0.012	B;B;B	0.30943	0.022;0.122;0.027	T	0.05550	-1.0878	10	0.54805	T	0.06	.	7.9247	0.29867	0.0:0.7532:0.161:0.0859	.	986;881;967	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	N	967;986;881;491;223	ENSP00000351664:K967N;ENSP00000357948:K986N;ENSP00000351385:K881N	ENSP00000335372:K223N	K	-	3	2	MICAL1	109872872	0.618000	0.27051	0.650000	0.29550	0.744000	0.42396	1.024000	0.30077	0.727000	0.32360	0.655000	0.94253	AAG		0.542	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		26	87	1	0	8.24728e-16	1	1.09065e-15	26	87				
MSI2	124540	broad.mit.edu	37	17	55478757	55478757	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:55478757G>T	ENST00000284073.2	+	6	539	c.330G>T	c.(328-330)aaG>aaT	p.K110N	MSI2_ENST00000442934.2_Missense_Mutation_p.K49N|MSI2_ENST00000579180.1_Missense_Mutation_p.K6N|MSI2_ENST00000416426.2_Missense_Mutation_p.K88N|MSI2_ENST00000322684.3_Missense_Mutation_p.K106N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	110	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.K106K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CAAGAACAAAGAAAATATTTG	0.448			T	HOXA9	CML																																	ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		1	Substitution - coding silent(1)	p.K106K(1)	central_nervous_system(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(328-330)aaG>aaT		musashi RNA-binding protein 2							110.0	107.0	108.0					17																	55478757		2203	4300	6503	SO:0001583	missense	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55478757G>T	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.330G>T	17.37:g.55478757G>T	ENSP00000284073:p.Lys110Asn					MSI2_ENST00000416426.2_Missense_Mutation_p.K88N|MSI2_ENST00000579180.1_Missense_Mutation_p.K6N|MSI2_ENST00000322684.3_Missense_Mutation_p.K106N|MSI2_ENST00000442934.2_Missense_Mutation_p.K49N	p.K110N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	6	539	+	Breast(9;1.78e-08)		110			RRM 1.|RRM 2.		Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.330G>T	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811777	0.90707	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.64402	D	0.000001	D	0.95010	0.8385	L	0.50333	1.59	0.80722	D	1	D;D;D	0.63880	0.993;0.989;0.991	D;D;P	0.72338	0.977;0.931;0.855	D	0.95122	0.8247	10	0.87932	D	0	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	88;106;110	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	N	88;110;106;49	ENSP00000414671:K88N;ENSP00000284073:K110N;ENSP00000313616:K106N;ENSP00000392607:K49N	ENSP00000284073:K110N	K	+	3	2	MSI2	52833756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.374000	0.97172	2.748000	0.94277	0.655000	0.94253	AAG		0.448	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			29	49	1	0	9.80776e-20	1	1.33792e-19	29	49				
LRIF1	55791	broad.mit.edu	37	1	111492551	111492551	+	Silent	SNP	G	G	A	rs143008579		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111492551G>A	ENST00000369763.4	-	3	2181	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	LRIF1_ENST00000485275.2_Silent_p.F61F|LRIF1_ENST00000494675.1_Silent_p.F61F|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.F597F(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TAAAGGAATCGAAACCTTCTC	0.383																																						ENST00000369763.4																			1	Substitution - coding silent(1)	p.F597F(1)	skin(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1789-1791)ttC>ttT		ligand dependent nuclear receptor interacting factor 1		G	,	1,4405	2.1+/-5.4	0,1,2202	159.0	158.0	158.0		183,1791	3.3	0.6	1	dbSNP_134	158	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRIF1	NM_001006945.1,NM_018372.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	61/234,597/770	111492551	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111492551G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1791C>T	1.37:g.111492551G>A						LRIF1_ENST00000485275.2_Silent_p.F61F|LRIF1_ENST00000494675.1_Silent_p.F61F|RP11-96K19.2_ENST00000440689.1_RNA	p.F597F	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			3	2181	-			597					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.1791C>T	CCDS30800.1																																																																																				0.383	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		23	66	0	0	0	1	0	23	66				
ZNF347	84671	broad.mit.edu	37	19	53644730	53644730	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53644730G>T	ENST00000334197.7	-	5	1419	c.1351C>A	c.(1351-1353)Cac>Aac	p.H451N	ZNF347_ENST00000452676.2_Missense_Mutation_p.H452N|ZNF347_ENST00000601469.2_Missense_Mutation_p.H452N|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	451					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)		TCTCCGGTGTGAATTACCAGA	0.438																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1354-1356)Cac>Aac		zinc finger protein 347							141.0	140.0	141.0					19																	53644730		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644730G>T	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.1351C>A	19.37:g.53644730G>T	ENSP00000334146:p.His451Asn					ZNF347_ENST00000601469.2_Missense_Mutation_p.H452N|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.H451N	p.H452N	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1780	-			451					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1354C>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374176	0.61735	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.67345	-0.26;-0.26	2.43	2.43	0.29744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84083	0.5394	M	0.92268	3.29	0.34701	D	0.72675	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.977	D	0.89936	0.4069	9	0.87932	D	0	.	11.9768	0.53096	0.0:0.0:1.0:0.0	.	452;451	G5E9N4;Q96SE7	.;ZN347_HUMAN	N	451;452	ENSP00000334146:H451N;ENSP00000405218:H452N	ENSP00000334146:H451N	H	-	1	0	ZNF347	58336542	1.000000	0.71417	0.019000	0.16419	0.002000	0.02628	3.942000	0.56614	1.385000	0.46445	0.655000	0.94253	CAC		0.438	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		46	74	1	0	1.23713e-20	1	1.6975e-20	46	74				
NSD1	64324	broad.mit.edu	37	5	176639179	176639179	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176639179C>T	ENST00000439151.2	+	5	3824	c.3779C>T	c.(3778-3780)gCt>gTt	p.A1260V	NSD1_ENST00000347982.4_Missense_Mutation_p.A991V|NSD1_ENST00000361032.4_Missense_Mutation_p.A1157V|NSD1_ENST00000354179.4_Missense_Mutation_p.A991V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1260					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACACCACAGGCTGAGCTCCCT	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3778-3780)gCt>gTt		nuclear receptor binding SET domain protein 1							34.0	36.0	35.0					5																	176639179		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176639179C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3779C>T	5.37:g.176639179C>T	ENSP00000395929:p.Ala1260Val	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.A991V|NSD1_ENST00000361032.4_Missense_Mutation_p.A1157V|NSD1_ENST00000347982.4_Missense_Mutation_p.A991V	p.A1260V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3824	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1260					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3779C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876931	0.51801	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92805	-3.0;-3.01;-3.0;-3.11	4.35	4.35	0.52113	.	0.677027	0.13499	N	0.383440	D	0.84234	0.5427	N	0.08118	0	0.24240	N	0.995369	B;B;B	0.19200	0.034;0.034;0.02	B;B;B	0.18871	0.023;0.023;0.006	T	0.76798	-0.2826	10	0.72032	D	0.01	.	14.1108	0.65120	0.0:1.0:0.0:0.0	.	991;1157;1260	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	V	991;1260;991;1157	ENSP00000346111:A991V;ENSP00000395929:A1260V;ENSP00000343209:A991V;ENSP00000354310:A1157V	ENSP00000343209:A991V	A	+	2	0	NSD1	176571785	1.000000	0.71417	0.744000	0.31058	0.997000	0.91878	2.778000	0.47726	2.426000	0.82243	0.655000	0.94253	GCT		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		9	23	0	0	0	1	0	9	23				
SACS	26278	broad.mit.edu	37	13	23910423	23910423	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23910423C>T	ENST00000382292.3	-	9	7865	c.7592G>A	c.(7591-7593)aGa>aAa	p.R2531K	SACS_ENST00000382298.3_Missense_Mutation_p.R2531K|SACS_ENST00000402364.1_Missense_Mutation_p.R1781K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2531					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCTCTTAATTCTGCTGGTCAA	0.393																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(7591-7593)aGa>aAa		spastic ataxia of Charlevoix-Saguenay (sacsin)							110.0	108.0	109.0					13																	23910423		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23910423C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7592G>A	13.37:g.23910423C>T	ENSP00000371729:p.Arg2531Lys					SACS_ENST00000402364.1_Missense_Mutation_p.R1781K|SACS_ENST00000382292.3_Missense_Mutation_p.R2531K	p.R2531K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8180	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2531					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.7592G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759377	0.89932	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.96554	-4.05;-4.05;-4.05	5.72	5.72	0.89469	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98052	0.9358	M	0.81112	2.525	0.51233	D	0.999916	D	0.76494	0.999	D	0.65573	0.936	D	0.98166	1.0449	10	0.56958	D	0.05	.	19.8766	0.96875	0.0:1.0:0.0:0.0	.	2531	Q9NZJ4	SACS_HUMAN	K	2531;1781;2531	ENSP00000371729:R2531K;ENSP00000385844:R1781K;ENSP00000371735:R2531K	ENSP00000371729:R2531K	R	-	2	0	SACS	22808423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.698000	0.92095	0.561000	0.74099	AGA		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		29	49	0	0	0	1	0	29	49				
SLC10A6	345274	broad.mit.edu	37	4	87770058	87770058	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87770058C>T	ENST00000273905.6	-	1	358	c.211G>A	c.(211-213)Gga>Aga	p.G71R	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	71					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CAGAGCAGTCCCACAGCAATG	0.532																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(211-213)Gga>Aga		solute carrier family 10 (sodium/bile acid cotransporter), member 6							74.0	62.0	66.0					4																	87770058		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87770058C>T	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.211G>A	4.37:g.87770058C>T	ENSP00000273905:p.Gly71Arg					SLC10A6_ENST00000505535.1_5'UTR	p.G71R	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	358	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	71					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.211G>A	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242454	0.95272	.	.	ENSG00000145283	ENST00000273905	T	0.15952	2.38	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.54743	0.1877	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65537	-0.6144	10	0.87932	D	0	-15.3787	17.6669	0.88205	0.0:1.0:0.0:0.0	.	71	Q3KNW5	SOAT_HUMAN	R	71	ENSP00000273905:G71R	ENSP00000273905:G71R	G	-	1	0	SLC10A6	87989082	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.711000	0.84669	2.768000	0.95171	0.655000	0.94253	GGA		0.532	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		19	47	0	0	0	1	0	19	47				
EHMT1	79813	broad.mit.edu	37	9	140646849	140646849	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140646849G>A	ENST00000460843.1	+	7	1264	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	EHMT1_ENST00000334856.6_Missense_Mutation_p.E382K|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.E413K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	413					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGCGGTGACGAGTCTGACCT	0.592																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1237-1239)Gag>Aag		euchromatic histone-lysine N-methyltransferase 1							130.0	94.0	106.0					9																	140646849		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140646849G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1237G>A	9.37:g.140646849G>A	ENSP00000417980:p.Glu413Lys					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.E413K|EHMT1_ENST00000334856.6_Missense_Mutation_p.E382K	p.E413K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	7	1264	+	all_cancers(76;0.164)		413					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.1237G>A	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966772	0.74131	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.51817	0.69;0.69;0.69	4.83	4.83	0.62350	.	0.284226	0.38959	N	0.001504	T	0.64962	0.2646	M	0.67953	2.075	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.981;0.994;0.994	T	0.61691	-0.7011	10	0.24483	T	0.36	.	15.7025	0.77552	0.0:0.0:1.0:0.0	.	413;382;413	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	K	382;382;413;413	ENSP00000334476:E382K;ENSP00000417328:E413K;ENSP00000417980:E413K	ENSP00000334476:E382K	E	+	1	0	EHMT1	139766670	1.000000	0.71417	0.998000	0.56505	0.413000	0.31143	6.552000	0.73914	2.233000	0.73108	0.561000	0.74099	GAG		0.592	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		11	20	0	0	0	1	0	11	20				
XIST	7503	broad.mit.edu	37	X	73069461	73069461	+	lincRNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:73069461C>A	ENST00000429829.1	-	0	3127					NR_001564.2				X inactive specific transcript (non-protein coding)																		TAAGGAAATTCTTTGTCCTGA	0.383																																						ENST00000429829.1																			0																				65.0	62.0	63.0					X																	73069461		876	1990	2866			0							g.chrX:73069461C>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73069461C>A								NR_001564.2						0	3127	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.383	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		7	40	1	0	5.18039e-06	1	5.75679e-06	7	40				
KIAA0586	9786	broad.mit.edu	37	14	58965566	58965566	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58965566G>A	ENST00000556134.1	+	28	4285	c.4011G>A	c.(4009-4011)gaG>gaA	p.E1337E	KIAA0586_ENST00000423743.3_Silent_p.E1308E|KIAA0586_ENST00000261244.5_Silent_p.E1276E|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.E1405E	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1337					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGCAGCAGAGAACATCTTAA	0.403																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3922-3924)gaG>gaA		KIAA0586							81.0	75.0	77.0					14																	58965566		1903	4136	6039	SO:0001819	synonymous_variant	9786							g.chr14:58965566G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4011G>A	14.37:g.58965566G>A						KIAA0586_ENST00000261244.5_Silent_p.E1276E|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.E1405E|KIAA0586_ENST00000556134.1_Silent_p.E1337E	p.E1308E	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			28	4182	+			1276					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	37	c.3924G>A	CCDS58321.1																																																																																				0.403	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		5	33	0	0	0	1	0	5	33				
IGHD	3495	broad.mit.edu	37	14	106307241	106307241	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106307241T>C	ENST00000390556.2	-	0	796							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCTCACCGGGTTCTCTCAGCG	0.687																																						ENST00000390556.2																			0																				15.0	19.0	18.0					14																	106307241		2086	4184	6270			0							g.chr14:106307241T>C	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106307241T>C														0	796	-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.687	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		3	4	0	0	0	1	0	3	4				
RIMKLA	284716	broad.mit.edu	37	1	42875737	42875737	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:42875737C>T	ENST00000431473.3	+	4	693	c.564C>T	c.(562-564)ttC>ttT	p.F188F		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	188	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTACCTGTTCCAGAAGTACG	0.512																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(562-564)ttC>ttT		ribosomal modification protein rimK-like family member A							167.0	161.0	163.0					1																	42875737		2203	4300	6503	SO:0001819	synonymous_variant	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42875737C>T	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.564C>T	1.37:g.42875737C>T							p.F188F	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			4	693	+			188			ATP-grasp.		Q5VUS5	Silent	SNP	ENST00000431473.3	37	c.564C>T	CCDS466.2																																																																																				0.512	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		7	119	0	0	0	1	0	7	119				
N4BP2L2	10443	broad.mit.edu	37	13	33109973	33109973	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33109973T>G	ENST00000267068.3	-	2	1356	c.1192A>C	c.(1192-1194)Aat>Cat	p.N398H	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N398H|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	398					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TGCAATTTATTTAACTTTTCC	0.373																																						ENST00000267068.3																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1192-1194)Aat>Cat		NEDD4 binding protein 2-like 2							96.0	94.0	95.0					13																	33109973		2203	4300	6503	SO:0001583	missense	10443							g.chr13:33109973T>G	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1192A>C	13.37:g.33109973T>G	ENSP00000267068:p.Asn398His					N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N398H|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	p.N398H	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	1356	-		Lung SC(185;0.0262)	398					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.1192A>C	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331135	0.24167	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.46063	0.88;0.88;0.88	5.8	2.0	0.26442	.	.	.	.	.	T	0.24624	0.0597	N	0.26092	0.79	0.19300	N	0.999973	B;B	0.15473	0.013;0.003	B;B	0.10450	0.005;0.002	T	0.22277	-1.0221	9	0.28530	T	0.3	-4.8648	2.5195	0.04676	0.1093:0.1295:0.2475:0.5137	.	398;398	D6R968;Q92802	.;N42L2_HUMAN	H	398	ENSP00000394239:N398H;ENSP00000423362:N398H;ENSP00000267068:N398H	ENSP00000267068:N398H	N	-	1	0	N4BP2L2	32007973	0.389000	0.25205	0.953000	0.39169	0.997000	0.91878	0.325000	0.19628	0.110000	0.17919	0.528000	0.53228	AAT		0.373	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		6	76	0	0	0	1	0	6	76				
DCAF6	55827	broad.mit.edu	37	1	167944083	167944083	+	Missense_Mutation	SNP	C	C	T	rs543895185		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167944083C>T	ENST00000312263.6	+	4	472	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Missense_Mutation_p.R90C|DCAF6_ENST00000367840.3_Missense_Mutation_p.R90C|DCAF6_ENST00000432587.2_Missense_Mutation_p.R59C	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	90					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GACAACAATTCGTTCAGGGCA	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		18333	0.0		0.0	False		,,,				2504	0.001					ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(268-270)Cgt>Tgt		DDB1 and CUL4 associated factor 6							86.0	82.0	83.0					1																	167944083		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167944083C>T	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.268C>T	1.37:g.167944083C>T	ENSP00000311949:p.Arg90Cys					DCAF6_ENST00000312263.6_Missense_Mutation_p.R90C|DCAF6_ENST00000432587.2_Missense_Mutation_p.R59C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Missense_Mutation_p.R90C	p.R90C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			4	362	+			90					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.268C>T	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648628	0.87958	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.112708	0.64402	D	0.000007	D	0.87716	0.6247	M	0.72894	2.215	0.80722	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.997	D	0.88546	0.3113	9	0.62326	D	0.03	.	18.489	0.90839	0.0:1.0:0.0:0.0	.	59;90;90;90	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	C	90;59;90;90	ENSP00000356817:R90C;ENSP00000396238:R59C;ENSP00000311949:R90C;ENSP00000356814:R90C	ENSP00000311949:R90C	R	+	1	0	DCAF6	166210707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.232000	0.78116	2.413000	0.81919	0.555000	0.69702	CGT		0.313	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		26	32	0	0	0	1	0	26	32				
PPM1L	151742	broad.mit.edu	37	3	160786805	160786805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160786805C>T	ENST00000498165.1	+	4	1044	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*|PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	315	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R315*(2)|p.R136*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGAAGCAGTTCGATTCATCAA	0.473																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			4	Substitution - Nonsense(4)	p.R315*(2)|p.R136*(2)	large_intestine(4)	breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(943-945)Cga>Tga		protein phosphatase, Mg2+/Mn2+ dependent, 1L							105.0	96.0	99.0					3																	160786805		2203	4300	6503	SO:0001587	stop_gained	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160786805C>T	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.943C>T	3.37:g.160786805C>T	ENSP00000417659:p.Arg315*					PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*	p.R315*	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		4	1044	+			315			PP2C-like.		Q2M3J2|Q96NM7	Nonsense_Mutation	SNP	ENST00000498165.1	37	c.943C>T	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048756	0.75846	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	14.0648	0.64821	0.1511:0.8489:0.0:0.0	.	.	.	.	X	315;136;188	.	ENSP00000295839:R188X	R	+	1	2	PPM1L	162269499	0.998000	0.40836	0.998000	0.56505	0.853000	0.48598	3.777000	0.55364	2.388000	0.81334	0.650000	0.86243	CGA		0.473	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		23	48	0	0	0	1	0	23	48				
IFNL3	282617	broad.mit.edu	37	19	39735436	39735436	+	Missense_Mutation	SNP	C	C	A	rs371708541		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39735436C>A	ENST00000413851.2	-	1	210	c.172G>T	c.(172-174)Gat>Tat	p.D58Y	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	58					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											ACTAAGGCATCTTTGGCCCTC	0.627																																						ENST00000413851.2																			0											c.(172-174)Gat>Tat		interferon, lambda 3							20.0	23.0	22.0					19																	39735436		2202	4291	6493	SO:0001583	missense	282617							g.chr19:39735436C>A	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.172G>T	19.37:g.39735436C>A	ENSP00000409000:p.Asp58Tyr						p.D58Y	NM_172139.2	NP_742151.2					1	210	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.172G>T	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098773	0.37048	.	.	ENSG00000197110	ENST00000413851	T	0.40756	1.02	2.97	2.97	0.34412	.	0.353403	0.23834	N	0.044115	T	0.62938	0.2469	M	0.85542	2.76	0.18873	N	0.999989	D	0.76494	0.999	D	0.69654	0.965	T	0.53844	-0.8381	10	0.87932	D	0	-0.7969	9.5565	0.39341	0.0:1.0:0.0:0.0	.	58	Q8IZI9	IL28B_HUMAN	Y	58	ENSP00000409000:D58Y	ENSP00000409000:D58Y	D	-	1	0	IL28B	44427276	0.097000	0.21791	0.050000	0.19076	0.679000	0.39708	2.161000	0.42358	1.697000	0.51169	0.194000	0.17425	GAT		0.627	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		19	26	1	0	3.99206e-14	1	5.17458e-14	19	26				
TENM1	10178	broad.mit.edu	37	X	123519848	123519848	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123519848G>T	ENST00000371130.3	-	28	5797	c.5734C>A	c.(5734-5736)Ctc>Atc	p.L1912I	TENM1_ENST00000422452.2_Missense_Mutation_p.L1919I|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1912					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)										GTGACTGAGAGCAGACAATCT	0.493																																						ENST00000422452.2																			0											c.(5755-5757)Ctc>Atc		teneurin transmembrane protein 1							116.0	98.0	104.0					X																	123519848		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123519848G>T	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.5734C>A	X.37:g.123519848G>T	ENSP00000360171:p.Leu1912Ile					TENM1_ENST00000371130.3_Missense_Mutation_p.L1912I|STAG2_ENST00000469481.1_Intron	p.L1919I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					29	5818	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5755C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479051	0.26511	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85411	-1.98;-1.94	5.56	5.56	0.83823	.	0.139923	0.49305	D	0.000143	T	0.80565	0.4647	L	0.51422	1.61	0.34161	D	0.668685	B;B;B	0.21309	0.044;0.044;0.054	B;B;B	0.17979	0.014;0.014;0.02	T	0.79548	-0.1758	10	0.17369	T	0.5	.	14.1868	0.65609	0.0:0.1454:0.8546:0.0	.	1918;1919;1912	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	1912;1919	ENSP00000360171:L1912I;ENSP00000403954:L1919I	ENSP00000360171:L1912I	L	-	1	0	ODZ1	123347529	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.910000	0.48766	2.333000	0.79357	0.594000	0.82650	CTC		0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		19	112	1	0	5.35267e-07	1	6.09026e-07	19	112				
DSEL	92126	broad.mit.edu	37	18	65178668	65178668	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65178668T>G	ENST00000310045.7	-	2	4681	c.3208A>C	c.(3208-3210)Aaa>Caa	p.K1070Q	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1060					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTAAACAATTTTGCTAAATGC	0.333																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3208-3210)Aaa>Caa		dermatan sulfate epimerase-like							56.0	59.0	58.0					18																	65178668		2203	4299	6502	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178668T>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3208A>C	18.37:g.65178668T>G	ENSP00000310565:p.Lys1070Gln					CTD-2541J13.2_ENST00000583493.1_RNA	p.K1070Q	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4681	-		Esophageal squamous(42;0.129)	1060					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3208A>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716629	0.30413	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.17854	2.25	4.64	4.64	0.57946	Sulfotransferase domain (1);	0.782653	0.11335	U	0.574630	T	0.11665	0.0284	L	0.29908	0.895	0.09310	N	1	B	0.23990	0.095	B	0.22601	0.04	T	0.31503	-0.9941	10	0.15066	T	0.55	-14.1048	7.1537	0.25624	0.0:0.1802:0.0:0.8198	.	1060	Q8IZU8	DSEL_HUMAN	Q	1070;1060	ENSP00000310565:K1070Q	ENSP00000310565:K1070Q	K	-	1	0	DSEL	63329648	0.754000	0.28360	0.820000	0.32676	0.992000	0.81027	1.626000	0.37039	1.858000	0.53909	0.456000	0.33151	AAA		0.333	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		12	35	0	0	0	1	0	12	35				
GOLGA4	2803	broad.mit.edu	37	3	37368058	37368058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37368058G>T	ENST00000361924.2	+	14	5055	c.4681G>T	c.(4681-4683)Gaa>Taa	p.E1561*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E1583*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1561	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.E1561*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAACACAAAGAATTGGTTCA	0.308																																						ENST00000361924.2																			2	Substitution - Nonsense(2)	p.E1561*(2)	large_intestine(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4681-4683)Gaa>Taa		golgin A4							69.0	80.0	76.0					3																	37368058		2198	4295	6493	SO:0001587	stop_gained	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368058G>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4681G>T	3.37:g.37368058G>T	ENSP00000354486:p.Glu1561*					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E1583*	p.E1561*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	5055	+			1561			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	c.4681G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	44	11.128092	0.99519	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	4.46	4.46	0.54185	.	0.214996	0.23594	N	0.046501	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	18.0125	0.89229	0.0:0.0:1.0:0.0	.	.	.	.	X	1561;1583;1432	.	ENSP00000349305:E1583X	E	+	1	0	GOLGA4	37343062	1.000000	0.71417	0.321000	0.25320	0.910000	0.53928	6.029000	0.70895	2.417000	0.82017	0.462000	0.41574	GAA		0.308	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		37	63	1	0	2.75727e-19	1	3.7504e-19	37	63				
PLXNA2	5362	broad.mit.edu	37	1	208269408	208269408	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:208269408C>T	ENST00000367033.3	-	8	2705	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	650					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AACTTGAACTCGGTGCTGACA	0.483																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1948-1950)Gag>Aag		plexin A2							293.0	308.0	303.0					1																	208269408		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208269408C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1948G>A	1.37:g.208269408C>T	ENSP00000356000:p.Glu650Lys						p.E650K	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	8	2705	-			650					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1948G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665379	0.67700	.	.	ENSG00000076356	ENST00000367033	T	0.00873	5.59	5.07	5.07	0.68467	.	0.097154	0.64402	D	0.000001	T	0.01254	0.0041	L	0.52364	1.645	0.80722	D	1	B	0.30584	0.286	B	0.19148	0.024	T	0.63479	-0.6628	10	0.49607	T	0.09	.	12.0232	0.53354	0.0:0.9213:0.0:0.0787	.	650	O75051	PLXA2_HUMAN	K	650	ENSP00000356000:E650K	ENSP00000356000:E650K	E	-	1	0	PLXNA2	206336031	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	5.648000	0.67930	2.635000	0.89317	0.650000	0.86243	GAG		0.483	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		115	254	0	0	0	1	0	115	254				
GRM8	2918	broad.mit.edu	37	7	126409928	126409928	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:126409928T>G	ENST00000339582.2	-	7	2156	c.1348A>C	c.(1348-1350)Aat>Cat	p.N450H	GRM8_ENST00000358373.3_Missense_Mutation_p.N450H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.N450H|GRM8_ENST00000405249.1_Missense_Mutation_p.N450H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	450					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCATTAAAATTTACAGCCCGA	0.408										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1348-1350)Aat>Cat		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						107.0	100.0	102.0					7																	126409928		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126409928T>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1348A>C	7.37:g.126409928T>G	ENSP00000344173:p.Asn450His	HNSCC(24;0.065)				GRM8_ENST00000358373.3_Missense_Mutation_p.N450H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.N450H|GRM8_ENST00000405249.1_Missense_Mutation_p.N450H	p.N450H			O00222	GRM8_HUMAN			7	2156	-		Prostate(267;0.186)	450					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1348A>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196837	0.58126	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.78	5.78	0.91487	Extracellular ligand-binding receptor (1);	0.102768	0.64402	D	0.000006	D	0.90930	0.7149	M	0.74467	2.265	0.58432	D	0.999998	B;D;D	0.56035	0.039;0.974;0.971	B;P;P	0.53450	0.067;0.667;0.726	D	0.91745	0.5407	10	0.62326	D	0.03	.	15.287	0.73835	0.0:0.0:0.0:1.0	.	450;450;450	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	H	450	ENSP00000344173:N450H;ENSP00000409790:N450H;ENSP00000351142:N450H;ENSP00000385731:N450H	ENSP00000344173:N450H	N	-	1	0	GRM8	126197164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.991000	0.88244	2.190000	0.69967	0.533000	0.62120	AAT		0.408	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			4	47	0	0	0	1	0	4	47				
SGOL2	151246	broad.mit.edu	37	2	201434523	201434523	+	Missense_Mutation	SNP	C	C	T	rs201953512		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201434523C>T	ENST00000357799.4	+	6	709	c.611C>T	c.(610-612)tCg>tTg	p.S204L	SGOL2_ENST00000409203.3_Missense_Mutation_p.S204L	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	204					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAGGATAATTCGGAAGTGTTA	0.318													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19039	0.0		0.0	False		,,,				2504	0.0					ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(610-612)tCg>tTg		shugoshin-like 2 (S. pombe)		C	LEU/SER,LEU/SER,LEU/SER	0,3646		0,0,1823	111.0	108.0	109.0		611,611,611	1.6	0.0	2		109	1,8139		0,1,4069	yes	missense,missense,missense	SGOL2	NM_152524.5,NM_001160046.1,NM_001160033.1	145,145,145	0,1,5892	TT,TC,CC		0.0123,0.0,0.0085	benign,benign,benign	204/1266,204/1262,204/1261	201434523	1,11785	1823	4070	5893	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201434523C>T	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.611C>T	2.37:g.201434523C>T	ENSP00000350447:p.Ser204Leu					SGOL2_ENST00000409203.3_Missense_Mutation_p.S204L	p.S204L	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			6	709	+			204					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.611C>T	CCDS42796.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.159	-1.083582	0.01888	0.0	1.23E-4	ENSG00000163535	ENST00000357799;ENST00000409203	T;T	0.13089	2.62;2.62	5.31	1.59	0.23543	.	0.488226	0.17333	N	0.178046	T	0.02193	0.0068	N	0.00182	-1.905	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.44726	-0.9309	10	0.02654	T	1	0.0078	7.1716	0.25722	0.0:0.266:0.0:0.734	.	204;204;204;204	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	L	204	ENSP00000350447:S204L;ENSP00000386249:S204L	ENSP00000350447:S204L	S	+	2	0	SGOL2	201142768	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.434000	0.21494	0.466000	0.27193	-0.385000	0.06624	TCG		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		16	53	0	0	0	1	0	16	53				
KCNMB3	27094	broad.mit.edu	37	3	178968869	178968869	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178968869T>C	ENST00000314235.5	-	1	534	c.23A>G	c.(22-24)gAa>gGa	p.E8G	KCNMB3_ENST00000349697.2_Intron|KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000497599.1_Intron	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	8					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	AAATCCCAGTTCAGAGCTTGG	0.403																																						ENST00000314235.5																			0				NS(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(22-24)gAa>gGa		potassium large conductance calcium-activated channel, subfamily M beta member 3							133.0	129.0	130.0					3																	178968869		2203	4300	6503	SO:0001583	missense	27094				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity	g.chr3:178968869T>C	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.23A>G	3.37:g.178968869T>C	ENSP00000319370:p.Glu8Gly					KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000349697.2_Intron	p.E8G	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		1	534	-	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		8					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000314235.5	37	c.23A>G	CCDS3226.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334805	0.24253	.	.	ENSG00000171121	ENST00000314235	T	0.10192	2.9	4.76	0.74	0.18330	.	10.353900	0.00166	N	0.000000	T	0.06600	0.0169	N	0.08118	0	0.09310	N	0.999998	B	0.30793	0.295	B	0.27608	0.081	T	0.29671	-1.0004	10	0.87932	D	0	-6.6501	5.1856	0.15182	0.0:0.0955:0.355:0.5495	.	8	Q9NPA1	KCMB3_HUMAN	G	8	ENSP00000319370:E8G	ENSP00000319370:E8G	E	-	2	0	KCNMB3	180451563	0.680000	0.27605	0.001000	0.08648	0.014000	0.08584	0.753000	0.26376	0.044000	0.15775	0.459000	0.35465	GAA		0.403	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348484.1			23	43	0	0	0	1	0	23	43				
SYNPO2	171024	broad.mit.edu	37	4	119978690	119978690	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:119978690A>C	ENST00000307142.4	+	5	3583	c.3387A>C	c.(3385-3387)ccA>ccC	p.P1129P	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAAGAGACCAACTCCTTGGG	0.473																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3385-3387)ccA>ccC		synaptopodin 2							111.0	102.0	105.0					4																	119978690		2203	4300	6503	SO:0001819	synonymous_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119978690A>C	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3387A>C	4.37:g.119978690A>C						SYNPO2_ENST00000448416.2_3'UTR	p.P1129P	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			5	3583	+			780					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000307142.4	37	c.3387A>C	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	A	7.374	0.627481	0.14257	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.7	-11.4	0.00090	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.29770	N	0.834828	.	.	.	.	.	.	T	0.04961	-1.0915	4	.	.	.	-1.1053	2.8259	0.05485	0.2489:0.2917:0.3157:0.1437	.	.	.	.	H	1023	.	.	N	+	1	0	SYNPO2	120198138	0.012000	0.17670	0.040000	0.18447	0.806000	0.45545	-0.836000	0.04382	-2.197000	0.00750	-0.316000	0.08728	AAC		0.473	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			22	59	0	0	0	1	0	22	59				
DHX36	170506	broad.mit.edu	37	3	154018782	154018782	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154018782C>T	ENST00000496811.1	-	10	1432	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	DHX36_ENST00000544526.1_Missense_Mutation_p.R451Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R451Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R451Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	451					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTACCTTCTTCGCAGTTCCCT	0.373																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1351-1353)cGa>cAa		DEAH (Asp-Glu-Ala-His) box polypeptide 36							163.0	169.0	167.0					3																	154018782		2202	4299	6501	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018782C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1352G>A	3.37:g.154018782C>T	ENSP00000417078:p.Arg451Gln					DHX36_ENST00000544526.1_Missense_Mutation_p.R451Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R451Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R451Q	p.R451Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		10	1432	-			451					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1352G>A	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	7.064	0.566962	0.13560	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03301	4.16;4.07;3.98;3.98;4.16	5.88	5.0	0.66597	.	0.238298	0.43579	N	0.000559	T	0.03783	0.0107	L	0.37750	1.13	0.29895	N	0.824849	B;B;B	0.18310	0.027;0.027;0.016	B;B;B	0.15484	0.013;0.013;0.006	T	0.21143	-1.0254	10	0.22109	T	0.4	.	10.5259	0.44948	0.0:0.796:0.0:0.204	.	451;451;451	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	Q	451;451;451;451;365	ENSP00000417078:R451Q;ENSP00000309296:R451Q;ENSP00000444247:R451Q;ENSP00000330113:R451Q;ENSP00000419862:R365Q	ENSP00000309296:R451Q	R	-	2	0	DHX36	155501476	0.535000	0.26370	0.037000	0.18230	0.369000	0.29798	1.175000	0.31944	1.471000	0.48121	0.557000	0.71058	CGA		0.373	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		36	61	0	0	0	1	0	36	61				
PTCHD4	442213	broad.mit.edu	37	6	47846423	47846423	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47846423G>T	ENST00000339488.4	-	3	2190	c.2157C>A	c.(2155-2157)atC>atA	p.I719I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	719						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TCAAGGTGTAGATAAGGCACA	0.438																																						ENST00000339488.4																			0											c.(2155-2157)atC>atA		patched domain containing 4							111.0	102.0	105.0					6																	47846423		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846423G>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2157C>A	6.37:g.47846423G>T							p.I719I	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2190	-			719					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.2157C>A	CCDS34473.2																																																																																				0.438	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		13	28	1	0	5.50884e-06	1	6.10489e-06	13	28				
FAR1	84188	broad.mit.edu	37	11	13736094	13736094	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:13736094G>A	ENST00000354817.3	+	9	1138	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	332					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAATCCTCTCGAACAGGCCTT	0.378																																						ENST00000354817.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(994-996)Gaa>Aaa		fatty acyl CoA reductase 1							53.0	50.0	51.0					11																	13736094		2200	4294	6494	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13736094G>A	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.994G>A	11.37:g.13736094G>A	ENSP00000346874:p.Glu332Lys					FAR1_ENST00000527202.1_3'UTR	p.E332K	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN			9	1138	+			332					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.994G>A	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837803	0.50951	.	.	ENSG00000197601	ENST00000354817	T	0.22539	1.95	5.58	5.58	0.84498	.	0.096661	0.64402	D	0.000001	T	0.20700	0.0498	L	0.42245	1.32	0.80722	D	1	B	0.16396	0.017	B	0.13407	0.009	T	0.07616	-1.0763	10	0.12766	T	0.61	-4.3708	19.1641	0.93546	0.0:0.0:1.0:0.0	.	332	Q8WVX9	FACR1_HUMAN	K	332	ENSP00000346874:E332K	ENSP00000346874:E332K	E	+	1	0	FAR1	13692670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.637000	0.89404	0.585000	0.79938	GAA		0.378	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		6	26	0	0	0	1	0	6	26				
CMTM5	116173	broad.mit.edu	37	14	23847687	23847687	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23847687G>A	ENST00000339180.4	+	2	472	c.256G>A	c.(256-258)Gac>Aac	p.D86N	CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000555731.1_Missense_Mutation_p.D48N|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000359320.3_Missense_Mutation_p.D86N|CMTM5_ENST00000382809.2_Missense_Mutation_p.D86N			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	86	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCAGCGCTTCGACCGAATTAA	0.567																																						ENST00000359320.3																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8						c.(256-258)Gac>Aac		CKLF-like MARVEL transmembrane domain containing 5							190.0	172.0	178.0					14																	23847687		2203	4300	6503	SO:0001583	missense	0				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23847687G>A	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.256G>A	14.37:g.23847687G>A	ENSP00000344819:p.Asp86Asn					CMTM5_ENST00000339180.4_Missense_Mutation_p.D86N|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.D86N|CMTM5_ENST00000555731.1_Missense_Mutation_p.D48N	p.D86N	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	2	700	+	all_cancers(95;2e-05)		86			MARVEL.		E9PH91|Q5PY48	Missense_Mutation	SNP	ENST00000339180.4	37	c.256G>A		.	.	.	.	.	.	.	.	.	.	G	6.117	0.389779	0.11581	.	.	ENSG00000166091	ENST00000359320;ENST00000382809;ENST00000339180;ENST00000555731	T;T;T;T	0.44482	1.67;0.92;1.67;0.98	5.94	3.03	0.35002	Marvel (1);	0.619992	0.16119	N	0.228747	T	0.28928	0.0718	L	0.29908	0.895	0.09310	N	0.999996	B;B;B;B	0.09022	0.0;0.002;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.17961	-1.0352	10	0.42905	T	0.14	-4.2741	7.8528	0.29464	0.2129:0.1197:0.6674:0.0	.	48;86;86;86	C9JAI6;Q96DZ9;E9PH91;Q96DZ9-2	.;CKLF5_HUMAN;.;.	N	86;86;86;48	ENSP00000352270:D86N;ENSP00000372259:D86N;ENSP00000344819:D86N;ENSP00000451514:D48N	ENSP00000344819:D86N	D	+	1	0	CMTM5	22917527	0.006000	0.16342	0.706000	0.30403	0.186000	0.23388	1.297000	0.33400	0.431000	0.26258	-1.119000	0.02030	GAC		0.567	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			64	104	0	0	0	1	0	64	104				
JAK2	3717	broad.mit.edu	37	9	5078340	5078340	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5078340C>T	ENST00000381652.3	+	16	2521	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.A676V|JAK2_ENST00000544510.1_Missense_Mutation_p.A527V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	676	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AATGTATGTGCCAAAAATATT	0.363		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(2026-2028)gCc>gTc		Janus kinase 2							146.0	159.0	154.0					9																	5078340		2203	4300	6503	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5078340C>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2027C>T	9.37:g.5078340C>T	ENSP00000371067:p.Ala676Val					JAK2_ENST00000544510.1_Missense_Mutation_p.A527V|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.A676V	p.A676V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	16	2521	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	676			Protein kinase 1.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.2027C>T	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578729	0.86645	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.37058	1.22;1.22;1.22	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.211176	0.49305	D	0.000154	T	0.64681	0.2620	M	0.91300	3.195	0.51482	D	0.99992	B	0.30511	0.282	P	0.46339	0.513	T	0.68655	-0.5351	10	0.87932	D	0	-3.5096	19.4912	0.95050	0.0:1.0:0.0:0.0	.	676	O60674	JAK2_HUMAN	V	676;676;527	ENSP00000440387:A676V;ENSP00000371067:A676V;ENSP00000443103:A527V	ENSP00000371067:A676V	A	+	2	0	JAK2	5068340	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.673000	0.68109	2.771000	0.95319	0.561000	0.74099	GCC		0.363	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			33	68	0	0	0	1	0	33	68				
VPS13D	55187	broad.mit.edu	37	1	12337274	12337274	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12337274C>T	ENST00000358136.3	+	19	3759	c.3629C>T	c.(3628-3630)aCg>aTg	p.T1210M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T1210M	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGGGTAGCACGTTTGACATG	0.413																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(3628-3630)aCg>aTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							157.0	138.0	145.0					1																	12337274		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12337274C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3629C>T	1.37:g.12337274C>T	ENSP00000350854:p.Thr1210Met					VPS13D_ENST00000356315.4_Missense_Mutation_p.T1210M	p.T1210M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	3759	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1210						Missense_Mutation	SNP	ENST00000358136.3	37	c.3629C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.007|4.007	-0.001373|-0.001373	0.07819|0.07819	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.52295	.|0.67;0.67	5.91|5.91	0.63|0.63	0.17693|0.17693	.|.	.|0.314316	.|0.30538	.|N	.|0.009415	T|T	0.20129|0.20129	0.0484|0.0484	N|N	0.08118|0.08118	0|0	0.29386|0.29386	N|N	0.862969|0.862969	.|P;P	.|0.45126	.|0.851;0.768	.|B;B	.|0.40534	.|0.332;0.178	T|T	0.16837|0.16837	-1.0389|-1.0389	5|10	.|0.51188	.|T	.|0.08	.|.	0.7479|0.7479	0.00985|0.00985	0.2207:0.3603:0.2015:0.2175|0.2207:0.3603:0.2015:0.2175	.|.	.|1210;1210	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	C|M	33|1210	.|ENSP00000348666:T1210M;ENSP00000350854:T1210M	.|ENSP00000348666:T1210M	R|T	+|+	1|2	0|0	VPS13D|VPS13D	12259861|12259861	0.261000|0.261000	0.24063|0.24063	0.076000|0.076000	0.20297|0.20297	0.577000|0.577000	0.36160|0.36160	1.086000|1.086000	0.30853|0.30853	0.123000|0.123000	0.18342|0.18342	-0.137000|-0.137000	0.14449|0.14449	CGT|ACG		0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		23	110	0	0	0	1	0	23	110				
DMD	1756	broad.mit.edu	37	X	32827713	32827713	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:32827713G>A	ENST00000357033.4	-	7	752	c.546C>T	c.(544-546)gaC>gaT	p.D182D	DMD_ENST00000288447.4_Silent_p.D174D|DMD_ENST00000378677.2_Silent_p.D178D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	182	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACTATTCCAGTCAAATAGGT	0.393																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(544-546)gaC>gaT		dystrophin							140.0	105.0	117.0					X																	32827713		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32827713G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.546C>T	X.37:g.32827713G>A						DMD_ENST00000288447.4_Silent_p.D174D|DMD_ENST00000378677.2_Silent_p.D178D	p.D182D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			7	752	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	182			Actin-binding.|CH 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.546C>T	CCDS14233.1																																																																																				0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		24	38	0	0	0	1	0	24	38				
PI4KA	5297	broad.mit.edu	37	22	21072993	21072993	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21072993G>A	ENST00000572273.1	-	44	5290	c.5060C>T	c.(5059-5061)tCg>tTg	p.S1687L	PI4KA_ENST00000255882.6_Missense_Mutation_p.S1745L|PI4KA_ENST00000414196.3_Missense_Mutation_p.S497L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1687	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity. {ECO:0000250}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GATGATAGCCGACACGTTGGT	0.483																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(5233-5235)tCg>tTg		phosphatidylinositol 4-kinase, catalytic, alpha							117.0	118.0	117.0					22																	21072993		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21072993G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5060C>T	22.37:g.21072993G>A	ENSP00000458238:p.Ser1687Leu					PI4KA_ENST00000414196.3_Missense_Mutation_p.S497L|PI4KA_ENST00000572273.1_Missense_Mutation_p.S1687L	p.S1745L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		44	5320	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1687			Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.5234C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.471812	0.84533	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;T	0.80909	-1.43;-1.43	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.058607	0.64402	D	0.000001	D	0.91955	0.7452	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.93900	0.7187	10	0.87932	D	0	-8.675	18.0663	0.89391	0.0:0.0:1.0:0.0	.	80;1687	A8MTF1;P42356	.;PI4KA_HUMAN	L	1687;497;80	ENSP00000402981:S497L;ENSP00000382162:S80L	ENSP00000255882:S1687L	S	-	2	0	PI4KA	19402993	1.000000	0.71417	0.840000	0.33206	0.517000	0.34286	9.818000	0.99354	2.258000	0.74832	0.650000	0.86243	TCG		0.483	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		41	70	0	0	0	1	0	41	70				
ZNF724P	440519	broad.mit.edu	37	19	23405633	23405633	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23405633G>T	ENST00000418100.1	-	4	1531	c.1414C>A	c.(1414-1416)Cat>Aat	p.H472N				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	472					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(1)|lung(2)|ovary(2)	8						TCTCCAGTATGAATTATCCTA	0.368																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(1414-1416)Cat>Aat																																						SO:0001583	missense	0							g.chr19:23405633G>T			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1414C>A	19.37:g.23405633G>T	ENSP00000413411:p.His472Asn						p.H472N							4	1531	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.1414C>A		.	.	.	.	.	.	.	.	.	.	G	9.882	1.201933	0.22121	.	.	ENSG00000196081	ENST00000418100	T	0.67345	-0.26	1.08	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76463	0.3991	.	.	.	0.35160	D	0.7706	D	0.76494	0.999	D	0.64687	0.928	T	0.80516	-0.1348	8	0.87932	D	0	.	8.9688	0.35894	0.0:0.0:1.0:0.0	.	472	A8MTY0	ZN724_HUMAN	N	472	ENSP00000413411:H472N	ENSP00000413411:H472N	H	-	1	0	ZNF724P	23197473	1.000000	0.71417	0.015000	0.15790	0.014000	0.08584	6.538000	0.73852	0.482000	0.27582	0.484000	0.47621	CAT		0.368	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			17	48	1	0	2.23348e-06	1	2.50077e-06	17	48				
ELOVL7	79993	broad.mit.edu	37	5	60053346	60053346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:60053346G>T	ENST00000508821.1	-	8	940	c.626C>A	c.(625-627)tCa>tAa	p.S209*	ELOVL7_ENST00000425382.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000438340.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000505959.1_Nonsense_Mutation_p.S196*	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	209					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AAGCTGTAATGATGTCAAATA	0.353																																						ENST00000505959.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9						c.(586-588)tCa>tAa		ELOVL fatty acid elongase 7							78.0	78.0	78.0					5																	60053346		2203	4300	6503	SO:0001587	stop_gained	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60053346G>T	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.626C>A	5.37:g.60053346G>T	ENSP00000424123:p.Ser209*					ELOVL7_ENST00000438340.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000508821.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000425382.1_Nonsense_Mutation_p.S209*	p.S196*			A1L3X0	ELOV7_HUMAN			10	1113	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	209					Q589T3|Q9H5D0|Q9NT66	Nonsense_Mutation	SNP	ENST00000508821.1	37	c.587C>A	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	G	41	9.004868	0.99033	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959	.	.	.	5.56	5.56	0.83823	.	0.381222	0.29501	N	0.011970	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-8.0306	19.9052	0.97004	0.0:0.0:1.0:0.0	.	.	.	.	X	209;209;209;196	.	ENSP00000402634:S209X	S	-	2	0	ELOVL7	60089103	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.226000	0.72277	2.776000	0.95493	0.655000	0.94253	TCA		0.353	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			18	45	1	0	1.33834e-09	1	1.61283e-09	18	45				
GALNT12	79695	broad.mit.edu	37	9	101594117	101594117	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101594117C>T	ENST00000375011.3	+	4	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	265					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGAACACCTTCGAATACCTGG	0.572																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(793-795)ttC>ttT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							93.0	85.0	88.0					9																	101594117		2203	4300	6503	SO:0001819	synonymous_variant	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101594117C>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.795C>T	9.37:g.101594117C>T							p.F265F	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			4	795	+		Acute lymphoblastic leukemia(62;0.0559)	265					Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	c.795C>T	CCDS6737.1																																																																																				0.572	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		25	23	0	0	0	1	0	25	23				
KIAA1211	57482	broad.mit.edu	37	4	57181891	57181891	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57181891A>C	ENST00000504228.1	+	6	2328	c.2223A>C	c.(2221-2223)gaA>gaC	p.E741D	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E734D|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E741D			Q6ZU35	K1211_HUMAN	KIAA1211	741										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGAGCACGGAAGCTGAAAGCA	0.567																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2221-2223)gaA>gaC		KIAA1211							67.0	80.0	76.0					4																	57181891		1972	4137	6109	SO:0001583	missense	57482							g.chr4:57181891A>C	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2223A>C	4.37:g.57181891A>C	ENSP00000423366:p.Glu741Asp					KIAA1211_ENST00000264229.6_Missense_Mutation_p.E741D|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E734D	p.E741D			Q6ZU35	K1211_HUMAN			6	2328	+	Glioma(25;0.08)|all_neural(26;0.101)		741					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2223A>C	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	A	6.175	0.400383	0.11696	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11063	2.81;2.81;2.81	4.59	-1.94	0.07571	.	.	.	.	.	T	0.04452	0.0122	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.23990	0.095;0.095;0.037	B;B;B	0.24155	0.051;0.034;0.024	T	0.43278	-0.9401	9	0.06891	T	0.86	-12.1857	0.7573	0.01000	0.3148:0.2982:0.2094:0.1775	.	734;734;741	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	D	741;741;734;651	ENSP00000264229:E741D;ENSP00000423366:E741D;ENSP00000444006:E734D	ENSP00000264229:E741D	E	+	3	2	KIAA1211	56876648	0.000000	0.05858	0.044000	0.18714	0.070000	0.16714	-1.265000	0.02844	-0.081000	0.12662	0.459000	0.35465	GAA		0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		37	75	0	0	0	1	0	37	75				
DST	667	broad.mit.edu	37	6	56470005	56470005	+	Missense_Mutation	SNP	A	A	C	rs375948740		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56470005A>C	ENST00000361203.3	-	36	8795	c.8788T>G	c.(8788-8790)Ttt>Gtt	p.F2930V	DST_ENST00000370769.4_Missense_Mutation_p.F2930V|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.F2930V|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.F2604V|DST_ENST00000370754.5_Missense_Mutation_p.F3108V			Q03001	DYST_HUMAN	dystonin	2930					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATGTGTCAAAAATTTCTTCA	0.338																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(9322-9324)Ttt>Gtt		dystonin		A		1,3639		0,1,1819	39.0	38.0	38.0			5.8	1.0	6		38	0,8152		0,0,4076	no	intron	DST	NM_015548.4		0,1,5895	CC,CA,AA		0.0,0.0275,0.0085			56470005	1,11791	1820	4076	5896	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56470005A>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.8788T>G	6.37:g.56470005A>C	ENSP00000354508:p.Phe2930Val					DST_ENST00000361203.3_Missense_Mutation_p.F2930V|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.F2604V|DST_ENST00000370769.4_Missense_Mutation_p.F2930V|DST_ENST00000312431.6_Missense_Mutation_p.F2930V|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	p.F3108V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	9321	-	Lung NSC(77;0.103)		2930					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.9322T>G		.	.	.	.	.	.	.	.	.	.	A	19.26	3.793000	0.70452	2.75E-4	0.0	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;D	0.91407	-0.94;-1.01;-0.11;-2.84;-1.18;-2.2	5.79	5.79	0.91817	.	0.000000	0.56097	D	0.000029	D	0.94404	0.8200	.	.	.	0.35791	D	0.822422	D	0.76494	0.999	D	0.69479	0.964	D	0.95081	0.8213	8	0.72032	D	0.01	.	15.8037	0.78477	1.0:0.0:0.0:0.0	.	2604	Q03001-9	.	V	3108;2930;2604;2930;2930;2604	ENSP00000359790:F3108V;ENSP00000359805:F2930V;ENSP00000393645:F2604V;ENSP00000307959:F2930V;ENSP00000354508:F2930V;ENSP00000404924:F2604V	ENSP00000307959:F2930V	F	-	1	0	DST	56577964	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	6.414000	0.73318	2.218000	0.71995	0.533000	0.62120	TTT		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		8	14	0	0	0	1	0	8	14				
GPR101	83550	broad.mit.edu	37	X	136112733	136112733	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:136112733G>A	ENST00000298110.1	-	1	1100	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	367						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCACTGCCTCGACGTCATCCT	0.537																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(1099-1101)gtC>gtT		G protein-coupled receptor 101							272.0	199.0	224.0					X																	136112733		2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112733G>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1101C>T	X.37:g.136112733G>A							p.V367V	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	1100	-	Acute lymphoblastic leukemia(192;0.000127)		367					Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.1101C>T	CCDS14662.1																																																																																				0.537	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			47	127	0	0	0	1	0	47	127				
FBXO18	84893	broad.mit.edu	37	10	5944989	5944989	+	Missense_Mutation	SNP	G	G	A	rs184687585	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5944989G>A	ENST00000362091.4	+	2	123	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.R54Q	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	3					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACAGTGAGACGGTTTAAGCGG	0.458													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		16433	0.0		0.0	False		,,,				2504	0.0					ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(160-162)cGg>cAg		F-box protein, helicase, 18							103.0	88.0	93.0					10																	5944989		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5944989G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.8G>A	10.37:g.5944989G>A	ENSP00000355415:p.Arg3Gln					FBXO18_ENST00000362091.4_Missense_Mutation_p.R3Q|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_5'UTR	p.R54Q	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			3	265	+			3					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.161G>A	CCDS7072.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	16.15	3.042626	0.55003	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.21	-2.02	0.07388	.	0.850130	0.10445	N	0.673831	T	0.60025	0.2237	L	0.53249	1.67	0.80722	D	1	D;P	0.63880	0.993;0.715	P;B	0.51193	0.662;0.092	T	0.66685	-0.5861	9	0.44086	T	0.13	-2.0702	14.2895	0.66268	0.0:0.5429:0.3453:0.1118	.	54;3	Q8NFZ0-2;Q8NFZ0	.;FBX18_HUMAN	Q	3;54	.	ENSP00000355415:R3Q	R	+	2	0	FBXO18	5984995	1.000000	0.71417	0.997000	0.53966	0.338000	0.28826	1.390000	0.34464	-0.030000	0.13804	-0.868000	0.02995	CGG		0.458	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		16	47	0	0	0	1	0	16	47				
ZNF285	26974	broad.mit.edu	37	19	44891906	44891906	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44891906C>A	ENST00000330997.4	-	4	565	c.501G>T	c.(499-501)aaG>aaT	p.K167N	ZNF285_ENST00000591679.1_Missense_Mutation_p.K174N|ZNF285_ENST00000544719.2_Missense_Mutation_p.K167N|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTAAATTCCCTTATATCTTC	0.463																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(499-501)aaG>aaT		zinc finger protein 285							89.0	90.0	90.0					19																	44891906		2203	4297	6500	SO:0001583	missense	26974							g.chr19:44891906C>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.501G>T	19.37:g.44891906C>A	ENSP00000333595:p.Lys167Asn					ZNF285_ENST00000591679.1_Missense_Mutation_p.K174N|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.K167N	p.K167N	NM_152354.3	NP_689567.3					4	565	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.501G>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	8.952	0.968395	0.18659	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07567	3.18	2.94	1.82	0.25136	.	.	.	.	.	T	0.08891	0.0220	L	0.59436	1.845	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.32393	0.145;0.145	T	0.26155	-1.0111	9	0.62326	D	0.03	.	5.2099	0.15310	0.0:0.6606:0.2163:0.1231	.	191;167	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	N	190;167	ENSP00000333595:K167N	ENSP00000333595:K167N	K	-	3	2	ZNF285	49583746	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.070000	0.11523	0.517000	0.28361	0.454000	0.30748	AAG		0.463	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		27	55	1	0	3.99451e-17	1	5.34789e-17	27	55				
CPSF3L	54973	broad.mit.edu	37	1	1248900	1248900	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1248900C>T	ENST00000435064.1	-	10	1112	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	CPSF3L_ENST00000450926.2_Missense_Mutation_p.E322K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E315K|CPSF3L_ENST00000411962.1_Missense_Mutation_p.E246K|CPSF3L_ENST00000540437.1_Missense_Mutation_p.E350K|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000421495.2_Missense_Mutation_p.E86K|CPSF3L_ENST00000419704.1_Missense_Mutation_p.E243K	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	344					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATGTTCTTTTCGTTTCCGGCC	0.592																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(1048-1050)Gaa>Aaa		cleavage and polyadenylation specific factor 3-like							112.0	86.0	95.0					1																	1248900		2203	4298	6501	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1248900C>T	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1030G>A	1.37:g.1248900C>T	ENSP00000413493:p.Glu344Lys					CPSF3L_ENST00000419704.1_Missense_Mutation_p.E243K|CPSF3L_ENST00000421495.2_Missense_Mutation_p.E86K|CPSF3L_ENST00000435064.1_Missense_Mutation_p.E344K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E315K|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E322K|CPSF3L_ENST00000411962.1_Missense_Mutation_p.E246K	p.E350K	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	12	1503	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	344					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.1048G>A	CCDS21.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676591	0.67928	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T;T	0.46819	0.92;0.92;0.92;0.92;0.86	4.8	4.8	0.61643	Beta-Casp domain (1);	0.108665	0.64402	D	0.000008	T	0.45955	0.1368	L	0.45744	1.44	0.80722	D	1	P;P;P;P;P;P	0.47484	0.603;0.655;0.896;0.873;0.644;0.471	B;B;B;B;B;B	0.42163	0.176;0.269;0.378;0.26;0.134;0.21	T	0.49916	-0.8888	10	0.48119	T	0.1	-41.4491	18.0305	0.89282	0.0:1.0:0.0:0.0	.	322;315;246;243;350;344	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	K	344;246;237;243;350;322;315	ENSP00000413493:E344K;ENSP00000404886:E243K;ENSP00000445001:E350K;ENSP00000392848:E322K;ENSP00000444672:E315K	ENSP00000294579:E237K	E	-	1	0	CPSF3L	1238763	1.000000	0.71417	0.998000	0.56505	0.478000	0.33099	7.138000	0.77305	2.490000	0.84030	0.563000	0.77884	GAA		0.592	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		25	36	0	0	0	1	0	25	36				
GOLGA2P5	55592	broad.mit.edu	37	12	100551073	100551073	+	RNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100551073A>G	ENST00000397112.4	-	0	1893				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGCCCCTCTGACCAATGTGCA	0.592																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4															94.0	93.0	93.0					12																	100551073		2203	4300	6503			0							g.chr12:100551073A>G																													12.37:g.100551073A>G						AC010203.1_ENST00000408843.1_RNA		NR_036632.1						0	1893	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.592	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			42	74	0	0	0	1	0	42	74				
SCAMP4	113178	broad.mit.edu	37	19	1918133	1918133	+	Silent	SNP	C	C	T	rs371988987		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1918133C>T	ENST00000316097.8	+	4	411	c.144C>T	c.(142-144)tgC>tgT	p.C48C	SCAMP4_ENST00000409472.1_Silent_p.C48C|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	48					protein transport (GO:0015031)	integral component of membrane (GO:0016021)							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTTTACTGCGCCACCCTCG	0.662																																						ENST00000316097.8																			0											c.(142-144)tgC>tgT		secretory carrier membrane protein 4		C		0,4278		0,0,2139	54.0	60.0	58.0		144	-8.5	0.3	19		58	1,8439		0,1,4219	no	coding-synonymous	SCAMP4	NM_079834.2		0,1,6358	TT,TC,CC		0.0118,0.0,0.0079		48/230	1918133	1,12717	2139	4220	6359	SO:0001819	synonymous_variant	113178				protein transport	integral to membrane		g.chr19:1918133C>T	AK091166	CCDS45903.1	19p13.3	2013-02-21			ENSG00000227500	ENSG00000227500		"""Secretory carrier membrane proteins"""	30385	protein-coding gene	gene with protein product		613764					Standard	NM_079834		Approved	FLJ33847	uc002luj.4	Q969E2	OTTHUMG00000154590	ENST00000316097.8:c.144C>T	19.37:g.1918133C>T						SCAMP4_ENST00000409472.1_Silent_p.C48C|SCAMP4_ENST00000414057.2_3'UTR	p.C48C	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	411	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	48					Q8N2N1|Q8NAV0	Silent	SNP	ENST00000316097.8	37	c.144C>T	CCDS45903.1	.	.	.	.	.	.	.	.	.	.	c	1.335	-0.595609	0.03771	0.0	1.18E-4	ENSG00000227500	ENST00000414057	.	.	.	4.77	-8.49	0.00931	.	.	.	.	.	T	0.48447	0.1500	.	.	.	0.35211	D	0.775147	.	.	.	.	.	.	T	0.56141	-0.8028	4	.	.	.	-0.0015	10.6515	0.45651	0.0:0.6592:0.1139:0.227	.	.	.	.	V	58	.	.	A	+	2	0	SCAMP4	1869133	0.000000	0.05858	0.304000	0.25085	0.077000	0.17291	-1.363000	0.02592	-1.733000	0.01357	-0.481000	0.04817	GCG		0.662	SCAMP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336210.3	NM_079834		14	32	0	0	0	1	0	14	32				
EPHA3	2042	broad.mit.edu	37	3	89259557	89259557	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89259557C>A	ENST00000336596.2	+	3	926	c.701C>A	c.(700-702)tCt>tAt	p.S234Y	EPHA3_ENST00000452448.2_Missense_Mutation_p.S234Y|EPHA3_ENST00000494014.1_Missense_Mutation_p.S234Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	234	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.S234Y(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTCAACAATTCTAAGGAGGAA	0.488										TSP Lung(6;0.00050)																												ENST00000336596.2																			2	Substitution - Missense(2)	p.S234Y(2)	lung(2)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(700-702)tCt>tAt		EPH receptor A3							169.0	162.0	164.0					3																	89259557		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259557C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.701C>A	3.37:g.89259557C>A	ENSP00000337451:p.Ser234Tyr	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.S234Y|EPHA3_ENST00000452448.2_Missense_Mutation_p.S234Y	p.S234Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	926	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	234			Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.701C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644776	0.87859	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.76709	-1.04;2.42;-1.03	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90601	0.7053	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.982;0.997	D	0.90701	0.4620	9	.	.	.	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	234;234	P29320;P29320-2	EPHA3_HUMAN;.	Y	234	ENSP00000337451:S234Y;ENSP00000399926:S234Y;ENSP00000419190:S234Y	.	S	+	2	0	EPHA3	89342247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.798000	0.96311	0.655000	0.94253	TCT		0.488	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		33	139	1	0	1.99505e-19	1	2.71627e-19	33	139				
GLI3	2737	broad.mit.edu	37	7	42116368	42116368	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:42116368C>T	ENST00000395925.3	-	4	540	c.456G>A	c.(454-456)ccG>ccA	p.P152P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	152					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATGGAGGAATCGGAGATGGAT	0.423									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(454-456)ccG>ccA		GLI family zinc finger 3							154.0	132.0	140.0					7																	42116368		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42116368C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.456G>A	7.37:g.42116368C>T						GLI3_ENST00000479210.1_5'UTR	p.P152P	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			4	540	-			152					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.456G>A	CCDS5465.1																																																																																				0.423	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		23	29	0	0	0	1	0	23	29				
CC2D2B	387707	broad.mit.edu	37	10	97772451	97772451	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97772451C>T	ENST00000344386.3	+	4	447	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	CC2D2B_ENST00000410012.2_Silent_p.L95L|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	95										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCAGCAACTTCTGGATATATT	0.318																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(283-285)Ctg>Ttg		coiled-coil and C2 domain containing 2B							79.0	76.0	77.0					10																	97772451		1828	4075	5903	SO:0001819	synonymous_variant	387707							g.chr10:97772451C>T	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.283C>T	10.37:g.97772451C>T						ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.L95L|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	p.L95L	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	4	447	+		Colorectal(252;0.158)	95					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Silent	SNP	ENST00000344386.3	37	c.283C>T	CCDS41555.1																																																																																				0.318	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		10	27	0	0	0	1	0	10	27				
ZNF300P1	134466	broad.mit.edu	37	5	150311004	150311004	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150311004C>A	ENST00000520773.1	-	0	2317									zinc finger protein 300 pseudogene 1 (functional)																		AGTATGTATTCTCTGATGTAT	0.423																																						ENST00000520773.1																			0																																																			0							g.chr5:150311004C>A	AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150311004C>A														0	2317	-									RNA	SNP	ENST00000520773.1	37																																																																																						0.423	ZNF300P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374771.1	NR_026867		14	17	1	0	9.05144e-12	1	1.13153e-11	14	17				
PAGE2B	389860	broad.mit.edu	37	X	55102524	55102524	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55102524A>G	ENST00000374971.1	+	2	102	c.50A>G	c.(49-51)gAc>gGc	p.D17G	PAGE2B_ENST00000374974.3_Missense_Mutation_p.D17G	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	17										lung(3)	3						AGAGGAAATGACCAAGAGTCT	0.343																																						ENST00000374971.1																			0				lung(3)	3						c.(49-51)gAc>gGc		P antigen family, member 2B							124.0	104.0	111.0					X																	55102524		2203	4300	6503	SO:0001583	missense	389860							g.chrX:55102524A>G		CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.50A>G	X.37:g.55102524A>G	ENSP00000364110:p.Asp17Gly					PAGE2B_ENST00000374974.3_Missense_Mutation_p.D17G	p.D17G	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN			2	102	+			17					A1L414	Missense_Mutation	SNP	ENST00000374971.1	37	c.50A>G	CCDS35304.1	.	.	.	.	.	.	.	.	.	.	a	11.16	1.556303	0.27827	.	.	ENSG00000238269	ENST00000374974;ENST00000374971;ENST00000453343	T;T	0.10960	2.82;2.82	1.16	-2.25	0.06888	.	.	.	.	.	T	0.09468	0.0233	L	0.39898	1.24	0.09310	N	1	P	0.44380	0.834	P	0.46825	0.528	T	0.14420	-1.0473	9	0.38643	T	0.18	.	1.4135	0.02296	0.4189:0.0:0.2556:0.3255	.	17	Q5JRK9	GGEE3_HUMAN	G	17	ENSP00000364113:D17G;ENSP00000364110:D17G	ENSP00000364110:D17G	D	+	2	0	PAGE2B	55119249	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.825000	0.04433	-0.724000	0.04908	0.238000	0.17879	GAC		0.343	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056849.1	XM_372224		14	33	0	0	0	1	0	14	33				
F8	2157	broad.mit.edu	37	X	154158062	154158062	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154158062T>C	ENST00000360256.4	-	14	4203	c.4003A>G	c.(4003-4005)Aaa>Gaa	p.K1335E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1335	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGAATTGTTTCAAAGCTCTC	0.398																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4003-4005)Aaa>Gaa		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						206.0	172.0	184.0					X																	154158062		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158062T>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4003A>G	X.37:g.154158062T>C	ENSP00000353393:p.Lys1335Glu						p.K1335E	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4203	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1335			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4003A>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	t	16.21	3.058930	0.55325	.	.	ENSG00000185010	ENST00000360256	D	0.99270	-5.66	5.26	2.76	0.32466	.	0.838718	0.10499	N	0.667504	D	0.98182	0.9399	M	0.72118	2.19	0.09310	N	1	P	0.50443	0.935	P	0.45753	0.492	D	0.94498	0.7707	10	0.38643	T	0.18	-2.9494	4.5598	0.12154	0.0:0.1041:0.1942:0.7017	.	1335	P00451	FA8_HUMAN	E	1335	ENSP00000353393:K1335E	ENSP00000353393:K1335E	K	-	1	0	F8	153811256	0.012000	0.17670	0.001000	0.08648	0.732000	0.41865	0.795000	0.26972	0.225000	0.20959	0.483000	0.47432	AAA		0.398	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			49	80	0	0	0	1	0	49	80				
ITGAM	3684	broad.mit.edu	37	16	31341654	31341654	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31341654G>T	ENST00000287497.8	+	27	3161	c.3086G>T	c.(3085-3087)aGa>aTa	p.R1029I	ITGAM_ENST00000544665.3_Missense_Mutation_p.R1030I			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1029					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTCTGCCAGAGAATCCAGTGT	0.557																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(3088-3090)aGa>aTa		integrin, alpha M (complement component 3 receptor 3 subunit)							81.0	82.0	82.0					16																	31341654		2008	4188	6196	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31341654G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.3086G>T	16.37:g.31341654G>T	ENSP00000287497:p.Arg1029Ile					ITGAM_ENST00000287497.8_Missense_Mutation_p.R1029I	p.R1030I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			27	3160	+			1029					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.3089G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801714	0.50315	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.23552	1.9;1.9	5.51	2.2	0.27929	.	.	.	.	.	T	0.25975	0.0633	M	0.80746	2.51	0.09310	N	0.999999	P;P	0.46784	0.884;0.884	B;B	0.36989	0.238;0.238	T	0.24835	-1.0149	9	0.46703	T	0.11	.	6.0065	0.19549	0.0894:0.0:0.5762:0.3344	.	1029;1029	Q4VAK1;P11215	.;ITAM_HUMAN	I	1030;1029	ENSP00000441691:R1030I;ENSP00000287497:R1029I	ENSP00000287497:R1029I	R	+	2	0	ITGAM	31249155	0.019000	0.18553	0.616000	0.29078	0.965000	0.64279	0.149000	0.16243	1.305000	0.44909	0.453000	0.30009	AGA		0.557	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		22	55	1	0	7.45023e-12	1	9.31775e-12	22	55				
RYR2	6262	broad.mit.edu	37	1	237756916	237756916	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237756916A>C	ENST00000366574.2	+	33	4733	c.4416A>C	c.(4414-4416)gaA>gaC	p.E1472D	RYR2_ENST00000360064.6_Missense_Mutation_p.E1470D|RYR2_ENST00000542537.1_Missense_Mutation_p.E1456D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1472	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGGAGATGAAAAAGGAAAAG	0.378																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4414-4416)gaA>gaC		ryanodine receptor 2 (cardiac)							71.0	65.0	67.0					1																	237756916		1864	4103	5967	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237756916A>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4416A>C	1.37:g.237756916A>C	ENSP00000355533:p.Glu1472Asp					RYR2_ENST00000360064.6_Missense_Mutation_p.E1470D|RYR2_ENST00000542537.1_Missense_Mutation_p.E1456D	p.E1472D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		33	4733	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1472			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4416A>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865148	0.32977	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.58060	0.36;0.36;0.36	4.9	3.78	0.43462	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.178273	0.33631	N	0.004710	T	0.38427	0.1040	L	0.35414	1.06	0.80722	D	1	P	0.48162	0.906	B	0.43950	0.437	T	0.12941	-1.0528	10	0.29301	T	0.29	.	4.8179	0.13376	0.6436:0.0:0.0798:0.2765	.	1472	Q92736	RYR2_HUMAN	D	1472;1470;1456	ENSP00000355533:E1472D;ENSP00000353174:E1470D;ENSP00000443798:E1456D	ENSP00000353174:E1470D	E	+	3	2	RYR2	235823539	0.690000	0.27699	1.000000	0.80357	0.998000	0.95712	-0.060000	0.11712	0.886000	0.36113	0.528000	0.53228	GAA		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		17	35	0	0	0	1	0	17	35				
ADAMTS18	170692	broad.mit.edu	37	16	77359844	77359844	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:77359844G>A	ENST00000282849.5	-	13	2369	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	651	Cys-rich.				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						TGTTGAGCCCGAAAATCCAAG	0.423																																						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.(1951-1953)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 18							114.0	102.0	106.0					16																	77359844		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77359844G>A	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.1951C>T	16.37:g.77359844G>A	ENSP00000282849:p.Arg651Trp						p.R651W	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			13	2369	-			651			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1951C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321708	0.81580	.	.	ENSG00000140873	ENST00000282849	T	0.06933	3.24	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	H	0.98199	4.17	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67094	-0.5757	10	0.87932	D	0	.	19.4463	0.94849	0.0:0.0:1.0:0.0	.	651;651	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	W	651	ENSP00000282849:R651W	ENSP00000282849:R651W	R	-	1	2	ADAMTS18	75917345	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.724000	0.61972	2.835000	0.97688	0.650000	0.86243	CGG		0.423	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			21	29	0	0	0	1	0	21	29				
CCDC89	220388	broad.mit.edu	37	11	85396938	85396938	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85396938A>C	ENST00000316398.3	-	1	382	c.236T>G	c.(235-237)aTc>aGc	p.I79S	CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	79						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCGCTTCAGGATGCAGATGAG	0.587																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(235-237)aTc>aGc		coiled-coil domain containing 89							65.0	57.0	60.0					11																	85396938		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396938A>C	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.236T>G	11.37:g.85396938A>C	ENSP00000320649:p.Ile79Ser						p.I79S	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	382	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	79						Missense_Mutation	SNP	ENST00000316398.3	37	c.236T>G	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.670877	0.67814	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.91	5.91	0.95273	.	0.187191	0.44483	U	0.000444	T	0.65365	0.2684	M	0.72894	2.215	0.46774	D	0.999196	B	0.29037	0.231	B	0.34452	0.183	T	0.62464	-0.6849	8	.	.	.	-9.5706	16.3436	0.83110	1.0:0.0:0.0:0.0	.	79	Q8N998	CCD89_HUMAN	S	79	.	.	I	-	2	0	CCDC89	85074586	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.429000	0.52800	2.269000	0.75478	0.533000	0.62120	ATC		0.587	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		4	44	0	0	0	1	0	4	44				
RBMS3	27303	broad.mit.edu	37	3	30032685	30032685	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:30032685C>A	ENST00000383767.2	+	14	1628	c.1292C>A	c.(1291-1293)tCt>tAt	p.S431Y	RBMS3_ENST00000396583.3_Missense_Mutation_p.S428Y|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000383766.2_Missense_Mutation_p.S413Y|RBMS3_ENST00000456853.1_Missense_Mutation_p.S428Y|RBMS3_ENST00000452462.1_Missense_Mutation_p.S415Y|RBMS3_ENST00000434693.2_Missense_Mutation_p.S430Y|RBMS3_ENST00000273139.9_Missense_Mutation_p.S415Y			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	431					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCTGCATATTCTTACCAACAG	0.478																																						ENST00000434693.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(1288-1290)tCt>tAt		RNA binding motif, single stranded interacting protein 3							234.0	168.0	190.0					3																	30032685		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30032685C>A	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1292C>A	3.37:g.30032685C>A	ENSP00000373277:p.Ser431Tyr					RBMS3_ENST00000396583.3_Missense_Mutation_p.S428Y|RBMS3_ENST00000273139.9_Missense_Mutation_p.S415Y|RBMS3_ENST00000452462.1_Missense_Mutation_p.S415Y|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000456853.1_Missense_Mutation_p.S428Y|RBMS3_ENST00000383766.2_Missense_Mutation_p.S413Y|RBMS3_ENST00000383767.2_Missense_Mutation_p.S431Y	p.S430Y	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN			14	1989	+		Ovarian(412;0.0956)	431					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1289C>A	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933105	0.92458	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.34275	1.38;1.38;1.39;1.39;1.45;1.37;1.39	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	L	0.61218	1.895	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.989	D;D;D;P	0.72075	0.926;0.976;0.956;0.905	T	0.56220	-0.8015	9	.	.	.	.	18.9853	0.92767	0.0:1.0:0.0:0.0	.	415;428;413;431	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	Y	430;428;431;415;413;415;428	ENSP00000395592:S430Y;ENSP00000379828:S428Y;ENSP00000373277:S431Y;ENSP00000273139:S415Y;ENSP00000373276:S413Y;ENSP00000397926:S415Y;ENSP00000400519:S428Y	.	S	+	2	0	RBMS3	30007689	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	7.076000	0.76806	2.469000	0.83416	0.655000	0.94253	TCT		0.478	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		4	73	1	0	2.56e-06	1	2.86294e-06	4	73				
POLR2A	5430	broad.mit.edu	37	17	7404318	7404318	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7404318G>A	ENST00000322644.6	+	12	2340	c.1941G>A	c.(1939-1941)acG>acA	p.T647T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	647					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ctCTGGGCACGTCAGCTGGCT	0.542																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(1939-1941)acG>acA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							211.0	168.0	183.0					17																	7404318		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7404318G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1941G>A	17.37:g.7404318G>A							p.T647T	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			12	2340	+		Prostate(122;0.173)	647					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.1941G>A	CCDS32548.1																																																																																				0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		21	43	0	0	0	1	0	21	43				
KIF11	3832	broad.mit.edu	37	10	94369267	94369267	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94369267G>T	ENST00000260731.3	+	6	788		c.e6+1			NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATACTCTAGGTAAGAAAGCC	0.413																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e6+1		kinesin family member 11							169.0	188.0	182.0					10																	94369267		2203	4300	6503	SO:0001630	splice_region_variant	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94369267G>T	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.698+1G>T	10.37:g.94369267G>T								NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			6	788	+								A0AV49|B2RMV3|Q15716|Q5VWX0	Splice_Site	SNP	ENST00000260731.3	37		CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721222	0.89205	.	.	ENSG00000138160	ENST00000260731	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF11	94359247	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.386000	0.97228	2.880000	0.98712	0.650000	0.86243	.		0.413	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523	Intron	82	180	1	0	3.3814e-41	1	4.88657e-41	82	180				
SLC5A5	6528	broad.mit.edu	37	19	17986847	17986847	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17986847C>A	ENST00000222248.3	+	5	977	c.630C>A	c.(628-630)gtC>gtA	p.V210V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	210					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CACGCGGTGTCATGCTTGTGG	0.607																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(628-630)gtC>gtA		solute carrier family 5 (sodium/iodide cotransporter), member 5							300.0	224.0	250.0					19																	17986847		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17986847C>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.630C>A	19.37:g.17986847C>A							p.V210V	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			5	977	+			210					O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.630C>A	CCDS12368.1																																																																																				0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			25	59	1	0	1.37878e-21	1	1.90629e-21	25	59				
ZC3H11A	9877	broad.mit.edu	37	1	203799314	203799314	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203799314A>C	ENST00000545588.1	+	7	4510	c.683A>C	c.(682-684)aAa>aCa	p.K228T	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.K228T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	228					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGAAGGAAAAATCTAAGAAG	0.348																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(682-684)aAa>aCa		zinc finger CCCH-type containing 11A							75.0	83.0	80.0					1																	203799314		2203	4299	6502	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203799314A>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.683A>C	1.37:g.203799314A>C	ENSP00000438527:p.Lys228Thr					ZC3H11A_ENST00000367212.3_Missense_Mutation_p.K228T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.K228T	p.K228T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		7	4510	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		228					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.683A>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821557	0.71028	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.59	5.59	0.84812	.	0.191355	0.56097	D	0.000025	T	0.65523	0.2699	M	0.66939	2.045	0.41107	D	0.985716	D	0.89917	1.0	D	0.74348	0.983	T	0.67401	-0.5680	10	0.51188	T	0.08	-21.4404	13.581	0.61903	1.0:0.0:0.0:0.0	.	228	O75152	ZC11A_HUMAN	T	228;228;174;228;228;228;228	ENSP00000356183:K228T;ENSP00000356181:K228T;ENSP00000333253:K228T;ENSP00000438527:K228T;ENSP00000356179:K228T	ENSP00000333253:K228T	K	+	2	0	ZC3H11A	202065937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.281000	0.58965	2.250000	0.74265	0.477000	0.44152	AAA		0.348	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		38	62	0	0	0	1	0	38	62				
ADH1B	125	broad.mit.edu	37	4	100235062	100235062	+	Missense_Mutation	SNP	C	C	A	rs373672745		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100235062C>A	ENST00000305046.8	-	6	811	c.744G>T	c.(742-744)aaG>aaT	p.K248N	ADH1B_ENST00000394887.3_Missense_Mutation_p.K208N			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	248					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GAATGGGTTTCTTGTAGTCTT	0.463																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(742-744)aaG>aaT		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						208.0	209.0	208.0					4																	100235062		2203	4290	6493	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100235062C>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.744G>T	4.37:g.100235062C>A	ENSP00000306606:p.Lys248Asn					ADH1B_ENST00000394887.3_Missense_Mutation_p.K208N	p.K248N			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	811	-			248					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.744G>T	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043581	0.19748	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.28454	1.61;1.61	3.81	1.97	0.26223	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	1.064110	0.07265	N	0.868159	T	0.26557	0.0649	L	0.41632	1.29	0.31345	N	0.683163	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.13407	0.002;0.004;0.009	T	0.29549	-1.0008	10	0.52906	T	0.07	0.0859	7.4086	0.27006	0.3256:0.5041:0.1703:0.0	.	235;208;248	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	N	248;208;235	ENSP00000306606:K248N;ENSP00000378351:K208N	ENSP00000306606:K248N	K	-	3	2	ADH1B	100454085	0.134000	0.22483	0.866000	0.34008	0.862000	0.49288	-0.069000	0.11542	0.076000	0.16826	0.561000	0.74099	AAG		0.463	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		103	219	1	0	3.22635e-48	1	4.68053e-48	103	219				
GPX6	257202	broad.mit.edu	37	6	28472164	28472164	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28472164C>T	ENST00000361902.1	-	5	620	c.571G>A	c.(571-573)Gat>Aat	p.D191N	GPX6_ENST00000474923.1_Silent_p.P157P|GPX6_ENST00000483058.1_5'Flank	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	191					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGGACTCCATCGGGCCCCACC	0.517																																						ENST00000361902.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(571-573)Gat>Aat		glutathione peroxidase 6 (olfactory)	Glutathione(DB00143)						101.0	98.0	99.0					6																	28472164		1987	4195	6182	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28472164C>T		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.571G>A	6.37:g.28472164C>T	ENSP00000354581:p.Asp191Asn					GPX6_ENST00000474923.1_Silent_p.P157P	p.D191N	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN			5	620	-			191					Q4PJ17	Missense_Mutation	SNP	ENST00000361902.1	37	c.571G>A	CCDS43432.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773865	0.16051	.	.	ENSG00000198704	ENST00000361902	T	0.04119	3.7	4.4	-0.679	0.11350	Thioredoxin-like fold (2);	0.306169	0.38111	N	0.001809	T	0.01592	0.0051	L	0.52364	1.645	0.44316	D	0.997199	B	0.14012	0.009	B	0.10450	0.005	T	0.41251	-0.9519	10	0.41790	T	0.15	-17.9556	5.651	0.17616	0.0:0.5305:0.1368:0.3327	.	191	P59796	GPX6_HUMAN	N	191	ENSP00000354581:D191N	ENSP00000354581:D191N	D	-	1	0	GPX6	28580143	0.006000	0.16342	0.043000	0.18650	0.077000	0.17291	0.214000	0.17541	-0.158000	0.11040	-1.073000	0.02249	GAT		0.517	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1			17	48	0	0	0	1	0	17	48				
ZNF451	26036	broad.mit.edu	37	6	57013143	57013143	+	Missense_Mutation	SNP	C	C	T	rs575508843	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57013143C>T	ENST00000370706.4	+	10	2504	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R754C|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R754C	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTGTGGTTTCGCTGCAGTTT	0.413													C|||	3	0.000599042	0.0	0.0	5008	,	,		21276	0.0		0.0	False		,,,				2504	0.0031					ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2260-2262)Cgc>Tgc		zinc finger protein 451							67.0	62.0	64.0					6																	57013143		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013143C>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2260C>T	6.37:g.57013143C>T	ENSP00000359740:p.Arg754Cys					RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R754C|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R754C|RP11-203B9.4_ENST00000585792.1_RNA	p.R754C	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2504	+	Lung NSC(77;0.145)		754					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2260C>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456912	0.43634	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.20332	2.08;2.1;2.08	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);	0.316196	0.34932	N	0.003578	T	0.33177	0.0854	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71414	0.938;0.973;0.939;0.954	T	0.05903	-1.0857	10	0.72032	D	0.01	-13.5695	13.5801	0.61898	0.1556:0.8444:0.0:0.0	.	754;754;754;754	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	C	754	ENSP00000359740:R754C;ENSP00000350083:R754C;ENSP00000421645:R754C	ENSP00000350083:R754C	R	+	1	0	ZNF451	57121102	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	2.327000	0.43858	2.453000	0.82957	0.557000	0.71058	CGC		0.413	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		11	21	0	0	0	1	0	11	21				
KIAA0020	9933	broad.mit.edu	37	9	2831329	2831329	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:2831329C>T	ENST00000397885.2	-	6	738	c.532G>A	c.(532-534)Gat>Aat	p.D178N	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	178	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGAGTTGAATCGTGTGCAAAT	0.343																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(532-534)Gat>Aat		KIAA0020							104.0	102.0	103.0					9																	2831329		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2831329C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.532G>A	9.37:g.2831329C>T	ENSP00000380982:p.Asp178Asn						p.D178N	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	6	738	-			178			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.532G>A	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	31	5.103713	0.94245	.	.	ENSG00000080608	ENST00000397885	T	0.69926	-0.44	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88456	0.3052	10	0.72032	D	0.01	-18.7198	18.8511	0.92230	0.0:1.0:0.0:0.0	.	38;178	B2RDG4;Q15397	.;K0020_HUMAN	N	178	ENSP00000380982:D178N	ENSP00000380982:D178N	D	-	1	0	KIAA0020	2821329	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.037000	0.76531	2.779000	0.95612	0.650000	0.86243	GAT		0.343	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		13	31	0	0	0	1	0	13	31				
NLGN4X	57502	broad.mit.edu	37	X	5811614	5811614	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:5811614T>G	ENST00000381095.3	-	6	2322	c.1695A>C	c.(1693-1695)aaA>aaC	p.K565N	NLGN4X_ENST00000275857.6_Missense_Mutation_p.K565N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.K585N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.K565N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.K565N	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	565					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGAGCTGGTCTTTGGGATTAT	0.468																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1693-1695)aaA>aaC		neuroligin 4, X-linked							117.0	113.0	114.0					X																	5811614		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811614T>G	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1695A>C	X.37:g.5811614T>G	ENSP00000370485:p.Lys565Asn					NLGN4X_ENST00000381092.1_Missense_Mutation_p.K565N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.K585N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.K565N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.K565N	p.K565N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			6	2322	-			565					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1695A>C	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	7.137	0.580971	0.13686	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.0	-1.43	0.08884	Carboxylesterase, type B (1);	0.298084	0.18591	N	0.136724	T	0.54095	0.1837	L	0.41236	1.265	0.44523	D	0.997475	B;P;B	0.40180	0.151;0.705;0.067	B;B;B	0.41412	0.063;0.356;0.022	T	0.41161	-0.9524	10	0.37606	T	0.19	.	8.9238	0.35628	0.0:0.4755:0.0:0.5245	.	622;565;585	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	N	565;585;565;565;565	ENSP00000370485:K565N;ENSP00000370483:K585N;ENSP00000275857:K565N;ENSP00000370482:K565N;ENSP00000439203:K565N	ENSP00000275857:K565N	K	-	3	2	NLGN4X	5821614	0.821000	0.29204	0.986000	0.45419	0.329000	0.28539	-0.224000	0.09164	-0.803000	0.04415	-0.438000	0.05819	AAA		0.468	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		38	91	0	0	0	1	0	38	91				
ICMT	23463	broad.mit.edu	37	1	6294539	6294539	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6294539C>A	ENST00000343813.5	-	2	313				LINC00337_ENST00000441724.1_RNA|ICMT_ENST00000362035.3_Missense_Mutation_p.R106M	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase						C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GGGAAAAATCCTACAGTGGCT	0.468																																						ENST00000362035.3																			0				NS(1)|endometrium(2)	3						c.(316-318)aGg>aTg		isoprenylcysteine carboxyl methyltransferase							14.0	13.0	13.0					1																	6294539		874	1984	2858	SO:0001627	intron_variant	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6294539C>A	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.284+406G>T	1.37:g.6294539C>A						ICMT_ENST00000343813.5_Intron	p.R106M			O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	3	345	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	0					Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	37	c.317G>T	CCDS61.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665209	0.47677	.	.	ENSG00000116237	ENST00000362035	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	T	0.53433	0.1796	.	.	.	0.23669	N	0.997158	.	.	.	.	.	.	T	0.50048	-0.8873	5	0.87932	D	0	.	12.1979	0.54309	0.0:1.0:0.0:0.0	.	.	.	.	M	106	.	ENSP00000354894:R106M	R	-	2	0	ICMT	6217126	0.998000	0.40836	0.791000	0.31998	0.958000	0.62258	1.927000	0.40094	2.017000	0.59298	0.655000	0.94253	AGG		0.468	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		3	9	1	0	0.00024832	1	0.000265255	3	9				
MIS12	79003	broad.mit.edu	37	17	5392583	5392583	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5392583C>A	ENST00000381165.3	+	3	954	c.401C>A	c.(400-402)aCt>aAt	p.T134N	MIS12_ENST00000573759.1_Missense_Mutation_p.T134N|DERL2_ENST00000571968.1_5'Flank	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						GAATTATGTACTAAGCAGGCC	0.378																																						ENST00000381165.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						c.(400-402)aCt>aAt		MIS12 kinetochore complex component							116.0	113.0	114.0					17																	5392583		2203	4300	6503	SO:0001583	missense	79003				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr17:5392583C>A	AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"""MIS12, MIND kinetochore complex component, homolog (yeast)"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"""			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.401C>A	17.37:g.5392583C>A	ENSP00000370557:p.Thr134Asn					MIS12_ENST00000573759.1_Missense_Mutation_p.T134N	p.T134N	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN			3	954	+			134						Missense_Mutation	SNP	ENST00000381165.3	37	c.401C>A	CCDS11074.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116419	0.56505	.	.	ENSG00000167842	ENST00000381165	T	0.46819	0.86	5.81	4.85	0.62838	.	0.265583	0.42548	D	0.000690	T	0.43033	0.1229	L	0.36672	1.1	0.09310	N	1	P	0.40302	0.712	B	0.41440	0.357	T	0.41502	-0.9505	10	0.66056	D	0.02	-4.0325	14.3024	0.66362	0.0:0.9292:0.0:0.0708	.	134	Q9H081	MIS12_HUMAN	N	134	ENSP00000370557:T134N	ENSP00000370557:T134N	T	+	2	0	MIS12	5333307	0.315000	0.24571	0.205000	0.23548	0.985000	0.73830	2.431000	0.44775	1.475000	0.48197	-0.191000	0.12829	ACT		0.378	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039		10	99	1	0	0.0581538	1	0.0589718	10	99				
NAA15	80155	broad.mit.edu	37	4	140258010	140258010	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:140258010G>T	ENST00000296543.5	+	3	471	c.148G>T	c.(148-150)Gct>Tct	p.A50S	NAA15_ENST00000398947.1_Missense_Mutation_p.A50S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	50					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGAAACCTTGGCTATGAAAGG	0.289																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(148-150)Gct>Tct		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							114.0	103.0	106.0					4																	140258010		1877	4150	6027	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140258010G>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.148G>T	4.37:g.140258010G>T	ENSP00000296543:p.Ala50Ser					NAA15_ENST00000398947.1_Missense_Mutation_p.A50S	p.A50S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			3	471	+			50					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.148G>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199671	0.79015	.	.	ENSG00000164134	ENST00000296543;ENST00000398947	T;T	0.50277	0.75;0.75	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	L	0.54323	1.7	0.80722	D	1	P	0.51449	0.945	P	0.49140	0.601	T	0.51220	-0.8733	10	0.34782	T	0.22	-7.4974	19.0663	0.93113	0.0:0.0:1.0:0.0	.	50	Q9BXJ9	NAA15_HUMAN	S	50	ENSP00000296543:A50S;ENSP00000381920:A50S	ENSP00000296543:A50S	A	+	1	0	NAA15	140477460	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.476000	0.97823	2.496000	0.84212	0.467000	0.42956	GCT		0.289	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		35	33	1	0	6.29468e-14	1	8.13866e-14	35	33				
ARFGEF1	10565	broad.mit.edu	37	8	68183948	68183948	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:68183948T>C	ENST00000262215.3	-	10	1950	c.1561A>G	c.(1561-1563)Atg>Gtg	p.M521V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	521					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCAATTTGCATCTTCAGATGT	0.318																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1561-1563)Atg>Gtg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							46.0	47.0	47.0					8																	68183948		2203	4299	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68183948T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1561A>G	8.37:g.68183948T>C	ENSP00000262215:p.Met521Val						p.M521V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		10	1950	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	521					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1561A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	t	17.89	3.500191	0.64298	.	.	ENSG00000066777	ENST00000262215	T	0.63580	-0.05	5.44	5.44	0.79542	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.38175	1.15	0.80722	D	1	P	0.36660	0.564	B	0.43889	0.435	T	0.59461	-0.7450	10	0.36615	T	0.2	.	15.5	0.75691	0.0:0.0:0.0:1.0	.	521	Q9Y6D6	BIG1_HUMAN	V	521	ENSP00000262215:M521V	ENSP00000262215:M521V	M	-	1	0	ARFGEF1	68346502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.617000	0.83032	2.058000	0.61347	0.477000	0.44152	ATG		0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		10	24	0	0	0	1	0	10	24				
ETFDH	2110	broad.mit.edu	37	4	159627345	159627345	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:159627345C>T	ENST00000511912.1	+	11	1622	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	ETFDH_ENST00000307738.5_Silent_p.L383L	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	430					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TAAAAGGACTCCATGTAACTG	0.373																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1288-1290)ctC>ctT		electron-transferring-flavoprotein dehydrogenase							72.0	74.0	74.0					4																	159627345		2203	4300	6503	SO:0001819	synonymous_variant	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627345C>T	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1290C>T	4.37:g.159627345C>T						ETFDH_ENST00000307738.5_Silent_p.L383L	p.L430L	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	11	1622	+	all_hematologic(180;0.24)	Renal(120;0.0458)	430					B4E3R9|J3KND9|Q7Z347	Silent	SNP	ENST00000511912.1	37	c.1290C>T	CCDS3800.1																																																																																				0.373	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			9	22	0	0	0	1	0	9	22				
DDX60L	91351	broad.mit.edu	37	4	169300626	169300626	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169300626C>A	ENST00000511577.1	-	32	4498	c.4251G>T	c.(4249-4251)aaG>aaT	p.K1417N	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1417N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1417							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGCAAATTTCTTTGGATTAC	0.318																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(4249-4251)aaG>aaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							41.0	41.0	41.0					4																	169300626		1822	4090	5912	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169300626C>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4251G>T	4.37:g.169300626C>A	ENSP00000422423:p.Lys1417Asn					DDX60L_ENST00000260184.7_Missense_Mutation_p.K1417N	p.K1417N			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	32	4498	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1417					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.4251G>T		.	.	.	.	.	.	.	.	.	.	C	7.446	0.641666	0.14451	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.17854	2.25;2.25	3.51	-2.57	0.06248	.	.	.	.	.	T	0.06325	0.0163	N	0.08118	0	0.09310	N	1	B	0.28324	0.207	B	0.28709	0.093	T	0.42032	-0.9475	9	0.12430	T	0.62	.	5.3042	0.15795	0.2888:0.4269:0.0:0.2843	.	1417	Q5H9U9	DDX6L_HUMAN	N	1417	ENSP00000260184:K1417N;ENSP00000422423:K1417N	ENSP00000260184:K1417N	K	-	3	2	DDX60L	169537201	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-1.785000	0.01767	-0.883000	0.03982	-1.842000	0.00583	AAG		0.318	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		5	22	1	0	0.014758	1	0.015099	5	22				
KMT2C	58508	broad.mit.edu	37	7	151945099	151945099	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151945099G>T	ENST00000262189.6	-	14	2638	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.S807Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	807					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTTTCCAGCAGAGGAACTAAG	0.443																																						ENST00000355193.2																			0											c.(2419-2421)tCt>tAt		lysine (K)-specific methyltransferase 2C							468.0	421.0	437.0					7																	151945099		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945099G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2420C>A	7.37:g.151945099G>T	ENSP00000262189:p.Ser807Tyr					KMT2C_ENST00000262189.6_Missense_Mutation_p.S807Y	p.S807Y							14	2638	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2420C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791788	0.16258	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83992	-1.79;-1.79	5.57	4.68	0.58851	.	0.715699	0.11911	N	0.517648	T	0.79724	0.4495	L	0.29908	0.895	0.80722	D	1	P	0.49447	0.924	P	0.48030	0.564	T	0.76435	-0.2960	10	0.54805	T	0.06	.	11.4145	0.49943	0.0:0.1365:0.7215:0.142	.	807	Q8NEZ4	MLL3_HUMAN	Y	807	ENSP00000262189:S807Y;ENSP00000347325:S807Y	ENSP00000262189:S807Y	S	-	2	0	MLL3	151576032	0.998000	0.40836	0.217000	0.23759	0.077000	0.17291	2.445000	0.44899	1.318000	0.45170	-0.182000	0.12963	TCT		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			38	405	1	0	2.59497e-14	1	3.37688e-14	38	405				
FANCF	2188	broad.mit.edu	37	11	22647060	22647060	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:22647060C>A	ENST00000327470.3	-	1	327	c.297G>T	c.(295-297)gaG>gaT	p.E99D	AC103801.2_ENST00000428556.2_Missense_Mutation_p.L2I	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	99					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGGCCCGGTTCTCCAGCAGGC	0.662			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327470.3			yes	Rec		Fanconi anaemia F	11	11p15	2188	"""N, F"""	"""Fanconi anemia, complementation group F"""			L		"""AML, leukemia"""			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(295-297)gaG>gaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group F							62.0	73.0	69.0					11																	22647060		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22647060C>A		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.297G>T	11.37:g.22647060C>A	ENSP00000330875:p.Glu99Asp		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757	AC103801.2_ENST00000428556.2_Missense_Mutation_p.L2I	p.E99D	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN			1	327	-			99					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.297G>T	CCDS7857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.943022|2.943022	0.53079|0.53079	.|.	.|.	ENSG00000183161|ENSG00000229387	ENST00000327470|ENST00000428556	T|.	0.31510|.	1.49|.	5.43|5.43	3.51|3.51	0.40186|0.40186	.|.	0.741779|.	0.12950|.	U|.	0.425855|.	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.34521|0.34521	1.04|1.04	0.25789|0.25789	N|N	0.984638|0.984638	B|.	0.24768|.	0.111|.	B|.	0.26094|.	0.066|.	T|T	0.33163|0.33163	-0.9879|-0.9879	10|6	0.41790|0.87932	T|D	0.15|0	-0.1417|-0.1417	11.1465|11.1465	0.48434|0.48434	0.1436:0.7183:0.138:0.0|0.1436:0.7183:0.138:0.0	.|.	99|.	Q9NPI8|.	FANCF_HUMAN|.	D|I	99|2	ENSP00000330875:E99D|.	ENSP00000330875:E99D|ENSP00000404027:L2I	E|L	-|+	3|1	2|0	FANCF|AC103801.2	22603636|22603636	0.702000|0.702000	0.27816|0.27816	0.673000|0.673000	0.29887|0.29887	0.769000|0.769000	0.43574|0.43574	0.835000|0.835000	0.27531|0.27531	0.800000|0.800000	0.34041|0.34041	0.655000|0.655000	0.94253|0.94253	GAG|CTC		0.662	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		5	153	1	0	0.00116845	1	0.00122532	5	153				
PDE11A	50940	broad.mit.edu	37	2	178740621	178740621	+	Missense_Mutation	SNP	C	C	A	rs369303784		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:178740621C>A	ENST00000286063.6	-	5	1649	c.1332G>T	c.(1330-1332)ttG>ttT	p.L444F	PDE11A_ENST00000389683.3_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.L194F|PDE11A_ENST00000409504.1_Missense_Mutation_p.L86F|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.L86F	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	444	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTGGGGACATCAATTCAAAGG	0.388									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1330-1332)ttG>ttT		phosphodiesterase 11A							143.0	132.0	136.0					2																	178740621		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178740621C>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1332G>T	2.37:g.178740621C>A	ENSP00000286063:p.Leu444Phe					PDE11A_ENST00000449286.2_Missense_Mutation_p.L86F|PDE11A_ENST00000389683.3_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.L194F|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.L86F	p.L444F	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		5	1649	-			444			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1332G>T	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.937485|2.937485	0.52972|0.52972	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000431253;ENST00000449286|ENST00000433879	T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33|.	6.17|6.17	6.17|6.17	0.99709|0.99709	GAF (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70228|.	0.3200|.	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	P;D|.	0.54397|.	0.717;0.966|.	B;P|.	0.58172|.	0.352;0.834|.	T|.	0.64643|.	-0.6359|.	10|.	0.20046|.	T|.	0.44|.	.|.	17.7962|17.7962	0.88572|0.88572	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	194;444|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	F|L	444;194;86;119;86|83	ENSP00000286063:L444F;ENSP00000351232:L194F;ENSP00000386539:L86F;ENSP00000390599:L86F|.	ENSP00000286063:L444F|.	L|X	-|-	3|2	2|2	PDE11A|PDE11A	178448867|178448867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.849000|3.849000	0.55910|0.55910	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TTG|TGA		0.388	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			17	39	1	0	2.4624e-09	1	2.95225e-09	17	39				
SAGE1	55511	broad.mit.edu	37	X	134991921	134991921	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134991921T>C	ENST00000370709.3	+	13	1706	c.1706T>C	c.(1705-1707)aTg>aCg	p.M569T	SAGE1_ENST00000535938.1_Missense_Mutation_p.M569T|SAGE1_ENST00000537770.1_Missense_Mutation_p.M193T|SAGE1_ENST00000324447.3_Missense_Mutation_p.M569T			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	569						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCCGGCCATGAGTACCAGG	0.413																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1705-1707)aTg>aCg		sarcoma antigen 1							148.0	127.0	135.0					X																	134991921		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134991921T>C	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1706T>C	X.37:g.134991921T>C	ENSP00000359743:p.Met569Thr					SAGE1_ENST00000324447.3_Missense_Mutation_p.M569T|SAGE1_ENST00000537770.1_Missense_Mutation_p.M193T|SAGE1_ENST00000370709.3_Missense_Mutation_p.M569T	p.M569T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			14	1873	+	Acute lymphoblastic leukemia(192;0.000127)		569					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.1706T>C	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	T	5.423	0.263109	0.10294	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.36157	1.42;1.42;1.27;1.42	0.466	-0.932	0.10435	.	0.229586	0.34828	U	0.003654	T	0.18718	0.0449	N	0.24115	0.695	0.09310	N	1	B;B	0.32753	0.018;0.383	B;B	0.36186	0.042;0.219	T	0.20505	-1.0273	9	0.20519	T	0.43	.	.	.	.	.	193;569	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	T	569;569;193;569	ENSP00000323191:M569T;ENSP00000445959:M569T;ENSP00000438276:M193T;ENSP00000359743:M569T	ENSP00000323191:M569T	M	+	2	0	SAGE1	134819587	0.058000	0.20735	0.007000	0.13788	0.011000	0.07611	-0.079000	0.11357	-0.687000	0.05162	0.218000	0.17770	ATG		0.413	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		17	114	0	0	0	1	0	17	114				
TSHR	7253	broad.mit.edu	37	14	81422098	81422098	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:81422098C>T	ENST00000541158.2	+	2	396	c.74C>T	c.(73-75)tCg>tTg	p.S25L	TSHR_ENST00000554435.1_Missense_Mutation_p.S25L|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554263.1_Missense_Mutation_p.S25L|TSHR_ENST00000342443.6_Missense_Mutation_p.S25L|TSHR_ENST00000298171.2_Missense_Mutation_p.S25L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	25					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ATGGGGTGTTCGTCTCCACCC	0.607			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(73-75)tCg>tTg		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						115.0	106.0	109.0					14																	81422098		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81422098C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.74C>T	14.37:g.81422098C>T	ENSP00000441235:p.Ser25Leu					TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000298171.2_Missense_Mutation_p.S25L|TSHR_ENST00000342443.6_Missense_Mutation_p.S25L|TSHR_ENST00000554435.1_Missense_Mutation_p.S25L|TSHR_ENST00000554263.1_Missense_Mutation_p.S25L	p.S25L			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	2	396	+			25					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.74C>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322246	0.23994	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	T;T;T;T;T	0.79454	-0.91;-1.27;-0.91;-1.27;-1.27	5.2	0.149	0.14863	.	1.053480	0.07393	N	0.889451	T	0.52533	0.1740	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.31308	-0.9948	10	0.11182	T	0.66	.	4.0829	0.09934	0.1612:0.4946:0.0:0.3442	.	25;25;25;25	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	L	25	ENSP00000441235:S25L;ENSP00000340113:S25L;ENSP00000298171:S25L;ENSP00000451202:S25L;ENSP00000450549:S25L	ENSP00000298171:S25L	S	+	2	0	TSHR	80491851	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.170000	0.09897	-0.282000	0.09128	-0.880000	0.02959	TCG		0.607	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		75	119	0	0	0	1	0	75	119				
BMX	660	broad.mit.edu	37	X	15549500	15549500	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15549500A>G	ENST00000357607.2	+	11	1177	c.989A>G	c.(988-990)tAc>tGc	p.Y330C	BMX_ENST00000348343.6_Missense_Mutation_p.Y330C|BMX_ENST00000342014.6_Missense_Mutation_p.Y330C			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	330	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GTGGGAATGTACACAGTGTCC	0.338																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(988-990)tAc>tGc		BMX non-receptor tyrosine kinase							174.0	171.0	172.0					X																	15549500		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15549500A>G	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.989A>G	X.37:g.15549500A>G	ENSP00000350224:p.Tyr330Cys					BMX_ENST00000342014.6_Missense_Mutation_p.Y330C|BMX_ENST00000348343.6_Missense_Mutation_p.Y330C	p.Y330C			P51813	BMX_HUMAN			11	1177	+	Hepatocellular(33;0.183)		330			SH2.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.989A>G	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900031	0.72754	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.92048	-2.96;-2.96;-2.96	5.45	5.45	0.79879	SH2 motif (4);	0.000000	0.56097	D	0.000028	D	0.96589	0.8887	M	0.91663	3.23	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	D	0.97184	0.9853	10	0.87932	D	0	.	12.3504	0.55144	1.0:0.0:0.0:0.0	.	330	P51813	BMX_HUMAN	C	330	ENSP00000350224:Y330C;ENSP00000308774:Y330C;ENSP00000340082:Y330C	ENSP00000340082:Y330C	Y	+	2	0	BMX	15459421	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.815000	0.75242	1.821000	0.53095	0.486000	0.48141	TAC		0.338	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		36	70	0	0	0	1	0	36	70				
SGK1	6446	broad.mit.edu	37	6	134638579	134638579	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:134638579T>C	ENST00000367858.5	-	1	617	c.20A>G	c.(19-21)aAt>aGt	p.N7S	SGK1_ENST00000524929.1_Missense_Mutation_p.N7S	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGGGAATCCATTCATGTCTTT	0.423																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(19-21)aAt>aGt		serum/glucocorticoid regulated kinase 1							185.0	168.0	173.0					6																	134638579		1568	3582	5150	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134638579T>C	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000367858.5:c.20A>G	6.37:g.134638579T>C	ENSP00000356832:p.Asn7Ser					SGK1_ENST00000524929.1_Missense_Mutation_p.N7S	p.N7S	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	1	617	-	Colorectal(23;0.221)		0			Necessary for localization to the cytoplasm.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000367858.5	37	c.20A>G	CCDS47476.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923644	0.73213	.	.	ENSG00000118515	ENST00000367858;ENST00000524929;ENST00000533224	T	0.74421	-0.84	5.26	5.26	0.73747	.	0.000000	0.40222	N	0.001153	D	0.82829	0.5122	.	.	.	0.33529	D	0.593348	D;D	0.89917	1.0;0.974	D;D	0.85130	0.997;0.953	D	0.86065	0.1534	9	0.87932	D	0	.	15.1662	0.72828	0.0:0.0:0.0:1.0	.	7;7	Q7Z3I4;O00141-2	.;.	S	7	ENSP00000356832:N7S	ENSP00000356832:N7S	N	-	2	0	SGK1	134680272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.505000	0.66981	1.995000	0.58328	0.482000	0.46254	AAT		0.423	SGK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042304.2			45	108	0	0	0	1	0	45	108				
ARHGEF6	9459	broad.mit.edu	37	X	135757212	135757212	+	Silent	SNP	G	G	A	rs376908686		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135757212G>A	ENST00000250617.6	-	19	3194	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	ARHGEF6_ENST00000370620.1_Silent_p.I509I|ARHGEF6_ENST00000535227.1_Silent_p.I536I|ARHGEF6_ENST00000370622.1_Silent_p.I509I	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	663					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGTAGGCTTCGATCACTTTAA	0.413																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1987-1989)atC>atT		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6		G		1,3834		0,1,1631,571	160.0	135.0	143.0		1989	-11.2	0.1	X		143	0,6728		0,0,2428,1872	no	coding-synonymous	ARHGEF6	NM_004840.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		663/777	135757212	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135757212G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1989C>T	X.37:g.135757212G>A						ARHGEF6_ENST00000535227.1_Silent_p.I536I|ARHGEF6_ENST00000370622.1_Silent_p.I509I|ARHGEF6_ENST00000370620.1_Silent_p.I509I	p.I663I	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			19	3194	-	Acute lymphoblastic leukemia(192;0.000127)		663					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	ENST00000250617.6	37	c.1989C>T	CCDS14660.1																																																																																				0.413	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		9	19	0	0	0	1	0	9	19				
CACNA1C	775	broad.mit.edu	37	12	2676775	2676775	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:2676775G>A	ENST00000347598.4	+	13	1710	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	CACNA1C_ENST00000399649.1_Silent_p.E570E|CACNA1C_ENST00000399641.1_Silent_p.E570E|CACNA1C_ENST00000399597.1_Silent_p.E570E|CACNA1C_ENST00000335762.5_Silent_p.E595E|CACNA1C_ENST00000399591.1_Silent_p.E570E|CACNA1C_ENST00000399655.1_Silent_p.E570E|CACNA1C_ENST00000402845.3_Silent_p.E570E|CACNA1C_ENST00000480911.1_Silent_p.E570E|CACNA1C_ENST00000399606.1_Silent_p.E570E|CACNA1C_ENST00000344100.3_Silent_p.E570E|CACNA1C_ENST00000327702.7_Silent_p.E570E|CACNA1C_ENST00000399638.1_Silent_p.E570E|CACNA1C_ENST00000399617.1_Silent_p.E570E|CACNA1C_ENST00000399601.1_Silent_p.E570E|CACNA1C_ENST00000399644.1_Silent_p.E570E|CACNA1C_ENST00000406454.3_Silent_p.E570E|CACNA1C_ENST00000399603.1_Silent_p.E570E|CACNA1C_ENST00000399637.1_Silent_p.E570E|CACNA1C_ENST00000399621.1_Silent_p.E570E|CACNA1C_ENST00000399595.1_Silent_p.E570E|CACNA1C_ENST00000399629.1_Silent_p.E570E|CACNA1C_ENST00000399634.1_Silent_p.E570E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	570					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCACGGCAGAGATGCTCCTGA	0.622																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1708-1710)gaG>gaA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						28.0	32.0	31.0					12																	2676775		2174	4288	6462	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2676775G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1710G>A	12.37:g.2676775G>A						CACNA1C_ENST00000399603.1_Silent_p.E570E|CACNA1C_ENST00000399617.1_Silent_p.E570E|CACNA1C_ENST00000399637.1_Silent_p.E570E|CACNA1C_ENST00000406454.3_Silent_p.E570E|CACNA1C_ENST00000399606.1_Silent_p.E570E|CACNA1C_ENST00000402845.3_Silent_p.E570E|CACNA1C_ENST00000399649.1_Silent_p.E570E|CACNA1C_ENST00000335762.5_Silent_p.E595E|CACNA1C_ENST00000347598.4_Silent_p.E570E|CACNA1C_ENST00000399638.1_Silent_p.E570E|CACNA1C_ENST00000399591.1_Silent_p.E570E|CACNA1C_ENST00000399621.1_Silent_p.E570E|CACNA1C_ENST00000327702.7_Silent_p.E570E|CACNA1C_ENST00000399595.1_Silent_p.E570E|CACNA1C_ENST00000399634.1_Silent_p.E570E|CACNA1C_ENST00000344100.3_Silent_p.E570E|CACNA1C_ENST00000480911.1_Silent_p.E570E|CACNA1C_ENST00000399601.1_Silent_p.E570E|CACNA1C_ENST00000399641.1_Silent_p.E570E|CACNA1C_ENST00000399644.1_Silent_p.E570E|CACNA1C_ENST00000399629.1_Silent_p.E570E|CACNA1C_ENST00000399597.1_Silent_p.E570E	p.E570E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	1975	+			570					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1710G>A	CCDS44788.1																																																																																				0.622	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		4	12	0	0	0	1	0	4	12				
TRIM55	84675	broad.mit.edu	37	8	67047346	67047346	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67047346G>T	ENST00000315962.4	+	3	836	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	TRIM55_ENST00000353317.5_Missense_Mutation_p.D155Y|TRIM55_ENST00000350034.4_Missense_Mutation_p.D155Y|TRIM55_ENST00000276573.7_Missense_Mutation_p.D155Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	155					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGCACACAAAGACTGCCAGGT	0.572																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(463-465)Gac>Tac		tripartite motif containing 55							189.0	158.0	169.0					8																	67047346		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67047346G>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.463G>T	8.37:g.67047346G>T	ENSP00000323913:p.Asp155Tyr					TRIM55_ENST00000350034.4_Missense_Mutation_p.D155Y|TRIM55_ENST00000353317.5_Missense_Mutation_p.D155Y|TRIM55_ENST00000276573.7_Missense_Mutation_p.D155Y	p.D155Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		3	836	+		Lung NSC(129;0.138)|all_lung(136;0.221)	155					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.463G>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430908	0.83776	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.65	5.65	0.86999	Zinc finger, B-box (3);	0.138035	0.64402	D	0.000004	T	0.78742	0.4331	M	0.91249	3.19	0.58432	D	0.999991	D;D;P;P	0.62365	0.991;0.982;0.888;0.878	D;P;P;P	0.63703	0.917;0.891;0.89;0.847	T	0.83082	-0.0137	10	0.87932	D	0	.	12.9879	0.58602	0.0737:0.0:0.9263:0.0	.	155;155;155;155	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	Y	155	ENSP00000323913:D155Y;ENSP00000297348:D155Y;ENSP00000276573:D155Y;ENSP00000332302:D155Y	ENSP00000276573:D155Y	D	+	1	0	TRIM55	67209900	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.029000	0.88807	2.667000	0.90743	0.655000	0.94253	GAC		0.572	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		36	82	1	0	3.33393e-15	1	4.38315e-15	36	82				
MAPK4	5596	broad.mit.edu	37	18	48252489	48252489	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:48252489C>T	ENST00000400384.2	+	5	2047	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Silent_p.I126I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	337					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.I337I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCGACGACATCGTGCTGATGG	0.602																																						ENST00000400384.2																			1	Substitution - coding silent(1)	p.I337I(1)	large_intestine(1)	lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(1009-1011)atC>atT		mitogen-activated protein kinase 4							92.0	95.0	94.0					18																	48252489		2132	4235	6367	SO:0001819	synonymous_variant	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48252489C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1011C>T	18.37:g.48252489C>T						MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Silent_p.I126I	p.I337I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	5	2047	+		Colorectal(6;0.0297)	337					A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	c.1011C>T	CCDS42437.1																																																																																				0.602	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		34	64	0	0	0	1	0	34	64				
GIN1	54826	broad.mit.edu	37	5	102442537	102442537	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102442537T>G	ENST00000399004.2	-	3	310	c.216A>C	c.(214-216)aaA>aaC	p.K72N	GIN1_ENST00000508629.1_Missense_Mutation_p.K72N|GIN1_ENST00000511400.1_5'Flank	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	72					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTCTTAAGACTTTCTTTTTTT	0.348																																						ENST00000399004.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(214-216)aaA>aaC		gypsy retrotransposon integrase 1							86.0	80.0	82.0					5																	102442537		1835	4085	5920	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102442537T>G	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.216A>C	5.37:g.102442537T>G	ENSP00000381970:p.Lys72Asn					GIN1_ENST00000508629.1_Missense_Mutation_p.K72N	p.K72N	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	3	310	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	72					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.216A>C	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814379	0.32053	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.29917	1.55;1.55	6.06	4.91	0.64330	.	0.087525	0.49305	D	0.000146	T	0.13756	0.0333	N	0.08118	0	0.33766	D	0.622494	B;B	0.21753	0.007;0.06	B;B	0.17433	0.009;0.018	T	0.10405	-1.0631	10	0.39692	T	0.17	-42.996	4.0652	0.09857	0.207:0.1503:0.0:0.6427	.	72;72	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	N	72	ENSP00000381970:K72N;ENSP00000427162:K72N	ENSP00000381970:K72N	K	-	3	2	GIN1	102470436	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	0.516000	0.22817	1.125000	0.41998	0.528000	0.53228	AAA		0.348	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		5	15	0	0	0	1	0	5	15				
WDR72	256764	broad.mit.edu	37	15	54005024	54005024	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:54005024C>T	ENST00000396328.1	-	7	895	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	WDR72_ENST00000559418.1_Missense_Mutation_p.R219Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R218Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R219Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	219										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTGCAAAATCGAATTGTCTG	0.323																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(655-657)cGa>cAa		WD repeat domain 72							73.0	76.0	75.0					15																	54005024		2192	4293	6485	SO:0001583	missense	256764							g.chr15:54005024C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.656G>A	15.37:g.54005024C>T	ENSP00000379619:p.Arg219Gln					WDR72_ENST00000559418.1_Missense_Mutation_p.R219Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R219Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R218Q	p.R219Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	7	895	-			219					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.656G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191464	0.78902	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.41065	1.01;1.01	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000007	T	0.59959	0.2232	L	0.50919	1.6	0.29722	N	0.838559	D	0.89917	1.0	D	0.87578	0.998	T	0.53975	-0.8362	10	0.27082	T	0.32	.	19.0733	0.93148	0.0:1.0:0.0:0.0	.	219	Q3MJ13	WDR72_HUMAN	Q	219	ENSP00000379619:R219Q;ENSP00000353699:R219Q	ENSP00000353699:R219Q	R	-	2	0	WDR72	51792316	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.850000	0.62889	2.758000	0.94735	0.650000	0.86243	CGA		0.323	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		3	13	0	0	0	1	0	3	13				
DDHD2	23259	broad.mit.edu	37	8	38097797	38097797	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:38097797A>G	ENST00000397166.2	+	6	1152	c.627A>G	c.(625-627)gaA>gaG	p.E209E	DDHD2_ENST00000520272.2_Silent_p.E209E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	209					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TTATAGGAGAACCTTTACAAA	0.323																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(625-627)gaA>gaG		DDHD domain containing 2							99.0	91.0	93.0					8																	38097797		2203	4300	6503	SO:0001819	synonymous_variant	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38097797A>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.627A>G	8.37:g.38097797A>G						DDHD2_ENST00000520272.2_Silent_p.E209E	p.E209E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		6	1152	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	209					B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	37	c.627A>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663700	0.29515	.	.	ENSG00000085788	ENST00000532106	.	.	.	5.46	0.372	0.16173	.	.	.	.	.	T	0.63271	0.2497	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63734	-0.6570	5	0.87932	D	0	-23.7977	8.9921	0.36030	0.614:0.0:0.386:0.0	.	.	.	.	S	2	.	ENSP00000432024:N139S	N	+	2	0	DDHD2	38216954	0.996000	0.38824	0.998000	0.56505	0.992000	0.81027	0.411000	0.21115	0.107000	0.17824	0.533000	0.62120	AAC		0.323	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		9	17	0	0	0	1	0	9	17				
CD84	8832	broad.mit.edu	37	1	160519727	160519727	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160519727C>T	ENST00000311224.4	-	7	1018	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	CD84_ENST00000368054.3_Missense_Mutation_p.E301K|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Missense_Mutation_p.R268Q|CD84_ENST00000368048.3_Missense_Mutation_p.E312K|CD84_ENST00000534968.1_Missense_Mutation_p.E187K	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	318					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTGCACTTCGGAATAAACT	0.517																																						ENST00000368054.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(901-903)Gaa>Aaa		CD84 molecule							121.0	109.0	113.0					1																	160519727		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160519727C>T	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.952G>A	1.37:g.160519727C>T	ENSP00000312367:p.Glu318Lys					CD84_ENST00000368051.3_Missense_Mutation_p.R268Q|CD84_ENST00000368048.3_Missense_Mutation_p.E312K|CD84_ENST00000311224.4_Missense_Mutation_p.E318K|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.E187K	p.E301K	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		6	936	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		318					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.901G>A	CCDS53396.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.619|9.619	1.133270|1.133270	0.21041|0.21041	.|.	.|.	ENSG00000066294|ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224|ENST00000368051	T;T;T;T|T	0.59364|0.63417	2.55;0.37;0.27;0.33|-0.04	4.51|4.51	0.786|0.786	0.18590|0.18590	.|.	2.209760|.	0.02313|.	N|.	0.072287|.	T|T	0.18341|0.18341	0.0440|0.0440	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P;P;P;P|B	0.35959|0.18610	0.46;0.53;0.46;0.46|0.029	B;B;B;B|B	0.26094|0.11329	0.049;0.048;0.066;0.049|0.006	T|T	0.17899|0.17899	-1.0354|-1.0354	9|8	0.06891|0.23891	T|T	0.86|0.37	4.4406|4.4406	2.7674|2.7674	0.05324|0.05324	0.1986:0.2234:0.0:0.578|0.1986:0.2234:0.0:0.578	.|.	187;318;312;301|268	Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3|Q9UIB8-5	.;SLAF5_HUMAN;.;.|.	K|Q	187;301;312;318|268	ENSP00000442845:E187K;ENSP00000357033:E301K;ENSP00000357027:E312K;ENSP00000312367:E318K|ENSP00000357030:R268Q	ENSP00000312367:E318K|ENSP00000357030:R268Q	E|R	-|-	1|2	0|0	CD84|CD84	158786351|158786351	0.112000|0.112000	0.22096|0.22096	0.025000|0.025000	0.17156|0.17156	0.003000|0.003000	0.03518|0.03518	0.382000|0.382000	0.20635|0.20635	0.024000|0.024000	0.15214|0.15214	-0.471000|-0.471000	0.05019|0.05019	GAA|CGA		0.517	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		25	46	0	0	0	1	0	25	46				
TTN	7273	broad.mit.edu	37	2	179639177	179639177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179639177C>A	ENST00000591111.1	-	30	7038	c.6814G>T	c.(6814-6816)Gaa>Taa	p.E2272*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E2272*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E2272*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.E2272*|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E2226*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E2226*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E2226*			Q8WZ42	TITIN_HUMAN	titin	12595	Ig-like 12.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGAAGTTCTTTCACAAAC	0.348																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6814-6816)Gaa>Taa		titin							54.0	53.0	53.0					2																	179639177		2202	4300	6502	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639177C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6814G>T	2.37:g.179639177C>A	ENSP00000465570:p.Glu2272*					TTN_ENST00000342175.6_Nonsense_Mutation_p.E2226*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E2226*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E2272*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E2272*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E2226*|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E2272*	p.E2272*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		30	7038	-			1996			Ig-like 12.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.6814G>T		.	.	.	.	.	.	.	.	.	.	C	47	13.831064	0.99765	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	.	.	.	X	2272;2226;2226;2226;2226;2272	.	ENSP00000340554:E2226X	E	-	1	0	TTN	179347422	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.217000	0.51184	2.650000	0.89964	0.557000	0.71058	GAA		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	18	1	0	0.000151284	1	0.00016287	13	18				
PIGA	5277	broad.mit.edu	37	X	15349745	15349745	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15349745G>A	ENST00000333590.4	-	2	392	c.308C>T	c.(307-309)gCc>gTc	p.A103V	PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	103					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GAGGGTCGTGGCTGTAGACTG	0.458																																						ENST00000333590.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(307-309)gCc>gTc		phosphatidylinositol glycan anchor biosynthesis, class A							158.0	136.0	144.0					X																	15349745		2203	4300	6503	SO:0001583	missense	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15349745G>A	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.308C>T	X.37:g.15349745G>A	ENSP00000369820:p.Ala103Val					PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Intron	p.A103V	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			2	392	-	Hepatocellular(33;0.183)		103					B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.308C>T	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662805	0.67700	.	.	ENSG00000165195	ENST00000333590	T	0.75367	-0.93	5.88	5.88	0.94601	PIGA, GPI anchor biosynthesis (1);	0.147565	0.64402	D	0.000010	T	0.77565	0.4149	N	0.24115	0.695	0.80722	D	1	D;D;P	0.69078	0.972;0.997;0.698	P;D;B	0.65443	0.654;0.935;0.338	T	0.76168	-0.3058	10	0.32370	T	0.25	-13.5297	18.0155	0.89239	0.0:0.0:1.0:0.0	.	103;103;103	A8K382;P37287-2;P37287	.;.;PIGA_HUMAN	V	103	ENSP00000369820:A103V	ENSP00000369820:A103V	A	-	2	0	PIGA	15259666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.330000	0.96422	2.476000	0.83614	0.544000	0.68410	GCC		0.458	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		42	91	0	0	0	1	0	42	91				
PPIP5K2	23262	broad.mit.edu	37	5	102537329	102537329	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102537329G>T	ENST00000358359.3	+	31	4235	c.3726G>T	c.(3724-3726)aaG>aaT	p.K1242N	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.K1221N|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.K1221N	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1242					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGGGAAAAAGAAATGAAATC	0.313																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3661-3663)aaG>aaT		diphosphoinositol pentakisphosphate kinase 2							61.0	65.0	64.0					5																	102537329		2203	4299	6502	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102537329G>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3726G>T	5.37:g.102537329G>T	ENSP00000351126:p.Lys1242Asn					PPIP5K2_ENST00000358359.3_Missense_Mutation_p.K1242N|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.K1221N	p.K1221N			O43314	VIP2_HUMAN			30	4236	+			1242					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.3663G>T		.	.	.	.	.	.	.	.	.	.	G	13.87	2.365237	0.41902	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.28454	2.31;2.32;2.31;1.61	5.4	2.43	0.29744	.	0.000000	0.56097	D	0.000025	T	0.38799	0.1054	L	0.36672	1.1	0.28489	N	0.914554	B;D;D	0.61080	0.231;0.989;0.981	B;D;D	0.72625	0.054;0.978;0.95	T	0.15206	-1.0445	10	0.44086	T	0.13	-16.5626	7.5144	0.27592	0.299:0.0:0.701:0.0	.	1277;1221;1242	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	N	1221;1242;1277;1221;397	ENSP00000313070:K1221N;ENSP00000351126:K1242N;ENSP00000416016:K1221N;ENSP00000424948:K397N	ENSP00000313070:K1221N	K	+	3	2	PPIP5K2	102565228	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	0.636000	0.24644	0.262000	0.21774	0.557000	0.71058	AAG		0.313	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		13	19	1	0	0.0931896	1	0.0943983	13	19				
COL7A1	1294	broad.mit.edu	37	3	48630293	48630293	+	Missense_Mutation	SNP	G	G	A	rs201916805		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48630293G>A	ENST00000328333.8	-	6	868	c.761C>T	c.(760-762)gCg>gTg	p.A254V	COL7A1_ENST00000454817.1_Missense_Mutation_p.A254V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	254	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCACTGGCCGCTGTCCACTG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17457	0.001		0.0	False		,,,				2504	0.0					ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(760-762)gCg>gTg		collagen, type VII, alpha 1							32.0	33.0	33.0					3																	48630293		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48630293G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.761C>T	3.37:g.48630293G>A	ENSP00000332371:p.Ala254Val					COL7A1_ENST00000454817.1_Missense_Mutation_p.A254V	p.A254V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	6	868	-			254			Fibronectin type-III 1.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.761C>T	CCDS2773.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.66	1.704265	0.30232	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.58940	0.3;0.3	4.31	4.31	0.51392	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41605	D	0.000842	T	0.65964	0.2742	L	0.39692	1.235	0.09310	N	0.999999	D	0.76494	0.999	D	0.65573	0.936	T	0.59778	-0.7390	10	0.62326	D	0.03	.	14.4362	0.67282	0.0:0.1479:0.8521:0.0	.	254	Q02388	CO7A1_HUMAN	V	254	ENSP00000332371:A254V;ENSP00000412569:A254V	ENSP00000332371:A254V	A	-	2	0	COL7A1	48605297	0.946000	0.32159	0.970000	0.41538	0.991000	0.79684	4.963000	0.63694	2.136000	0.66102	0.462000	0.41574	GCG		0.617	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		14	22	0	0	0	1	0	14	22				
DNAH7	56171	broad.mit.edu	37	2	196722256	196722256	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196722256A>G	ENST00000312428.6	-	44	8359	c.8259T>C	c.(8257-8259)caT>caC	p.H2753H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2753	Stalk. {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						TGTCATATTCATGAAGTGACT	0.368																																						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.(8257-8259)caT>caC		dynein, axonemal, heavy chain 7							89.0	85.0	86.0					2																	196722256		1820	4073	5893	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196722256A>G	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.8259T>C	2.37:g.196722256A>G							p.H2753H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			44	8359	-			2753			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.8259T>C	CCDS42794.1																																																																																				0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	48	0	0	0	1	0	4	48				
SGIP1	84251	broad.mit.edu	37	1	67109320	67109320	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67109320C>T	ENST00000371037.4	+	7	454	c.377C>T	c.(376-378)tCt>tTt	p.S126F	SGIP1_ENST00000371035.3_Missense_Mutation_p.S83F|SGIP1_ENST00000371036.3_Missense_Mutation_p.S101F|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.S130F|SGIP1_ENST00000371039.1_Missense_Mutation_p.S102F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	126					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCATTGCAATCTAAAGACATT	0.373																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(376-378)tCt>tTt		SH3-domain GRB2-like (endophilin) interacting protein 1							128.0	127.0	127.0					1																	67109320		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67109320C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.377C>T	1.37:g.67109320C>T	ENSP00000360076:p.Ser126Phe					SGIP1_ENST00000371035.3_Missense_Mutation_p.S83F|SGIP1_ENST00000371036.3_Missense_Mutation_p.S101F|SGIP1_ENST00000371039.1_Missense_Mutation_p.S102F|SGIP1_ENST00000237247.6_Missense_Mutation_p.S130F|SGIP1_ENST00000468286.1_3'UTR	p.S126F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			7	454	+			126					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.377C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827173	0.90955	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65;3.65	5.3	5.3	0.74995	.	0.278676	0.36200	N	0.002732	T	0.03348	0.0097	L	0.34521	1.04	0.41646	D	0.989107	B	0.26258	0.145	B	0.31016	0.123	T	0.43782	-0.9370	10	0.66056	D	0.02	-7.6636	19.3168	0.94218	0.0:1.0:0.0:0.0	.	126	Q9BQI5	SGIP1_HUMAN	F	130;102;126;83;129;129;101;126	ENSP00000237247:S130F;ENSP00000360078:S102F;ENSP00000410439:S126F;ENSP00000360074:S83F;ENSP00000360075:S101F;ENSP00000360076:S126F	ENSP00000237247:S130F	S	+	2	0	SGIP1	66881908	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.326000	0.79133	2.631000	0.89168	0.655000	0.94253	TCT		0.373	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		32	67	0	0	0	1	0	32	67				
ZNF549	256051	broad.mit.edu	37	19	58049412	58049412	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58049412T>G	ENST00000376233.3	+	4	1221	c.1040T>G	c.(1039-1041)tTt>tGt	p.F347C	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.F334C	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACAAACATTTGTTGGCCAT	0.438																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1039-1041)tTt>tGt		zinc finger protein 549							87.0	83.0	84.0					19																	58049412		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049412T>G	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1040T>G	19.37:g.58049412T>G	ENSP00000365407:p.Phe347Cys					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.F334C	p.F347C	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1221	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	347					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1040T>G	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835733	0.32421	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.15834	2.39;2.39	2.32	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40956	0.1138	M	0.89095	3.005	0.09310	N	1	P;D	0.63880	0.938;0.993	P;D	0.65573	0.665;0.936	T	0.16958	-1.0385	9	0.87932	D	0	.	6.2082	0.20613	0.2254:0.0:0.0:0.7746	.	347;334	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	C	334;347	ENSP00000240719:F334C;ENSP00000365407:F347C	ENSP00000240719:F334C	F	+	2	0	ZNF549	62741224	0.059000	0.20769	0.000000	0.03702	0.130000	0.20726	2.361000	0.44160	0.017000	0.15025	0.477000	0.44152	TTT		0.438	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		29	50	0	0	0	1	0	29	50				
FRA10AC1	118924	broad.mit.edu	37	10	95459799	95459799	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95459799T>G	ENST00000359204.4	-	2	262	c.65A>C	c.(64-66)aAa>aCa	p.K22T	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K22T|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K22T|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K22T	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	22						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TTTTTTCCTTTTGCTGGATTC	0.299																																						ENST00000359204.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						c.(64-66)aAa>aCa		fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							62.0	59.0	60.0					10																	95459799		2203	4300	6503	SO:0001583	missense	118924					nucleus	protein binding	g.chr10:95459799T>G	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.65A>C	10.37:g.95459799T>G	ENSP00000360488:p.Lys22Thr					FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K22T|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K22T|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K22T	p.K22T	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN			2	262	-			22					C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	c.65A>C	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	T	7.083	0.570584	0.13560	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.25085	1.89;1.85;1.82;1.84	5.29	2.97	0.34412	.	0.552403	0.20453	N	0.092054	T	0.16385	0.0394	L	0.36672	1.1	0.30874	N	0.73215	B;B;P	0.34462	0.372;0.241;0.454	B;B;B	0.29077	0.098;0.051;0.053	T	0.11941	-1.0567	10	0.21540	T	0.41	-0.0772	9.1546	0.36985	0.0:0.1482:0.0:0.8518	.	22;22;22	F8WCS9;Q70Z53-2;Q70Z53	.;.;F10C1_HUMAN	T	22	ENSP00000360488:K22T;ENSP00000438405:K22T;ENSP00000360484:K22T;ENSP00000377660:K22T	ENSP00000360488:K22T	K	-	2	0	FRA10AC1	95449789	0.904000	0.30761	1.000000	0.80357	0.030000	0.12068	0.201000	0.17276	0.967000	0.38186	0.533000	0.62120	AAA		0.299	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		13	15	0	0	0	1	0	13	15				
OPN1SW	611	broad.mit.edu	37	7	128415645	128415645	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:128415645T>C	ENST00000249389.2	-	1	199	c.200A>G	c.(199-201)cAg>cGg	p.Q67R		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	67					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GTTGAGGGGCTGCCGCAACTT	0.537																																						ENST00000249389.2																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(199-201)cAg>cGg		opsin 1 (cone pigments), short-wave-sensitive							112.0	119.0	117.0					7																	128415645		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415645T>C	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.200A>G	7.37:g.128415645T>C	ENSP00000249389:p.Gln67Arg						p.Q67R	NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN			1	199	-			67					Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.200A>G	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321572	0.41096	.	.	ENSG00000128617	ENST00000249389	T	0.36878	1.23	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.142736	0.47093	D	0.000256	T	0.59459	0.2195	M	0.94021	3.485	0.40779	D	0.983157	B	0.31174	0.311	B	0.42851	0.4	T	0.67933	-0.5542	10	0.72032	D	0.01	.	13.3321	0.60495	0.0:0.0:0.0:1.0	.	67	P03999	OPSB_HUMAN	R	67	ENSP00000249389:Q67R	ENSP00000249389:Q67R	Q	-	2	0	OPN1SW	128202881	0.007000	0.16637	1.000000	0.80357	0.209000	0.24338	0.576000	0.23744	2.248000	0.74166	0.533000	0.62120	CAG		0.537	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		52	118	0	0	0	1	0	52	118				
LRPPRC	10128	broad.mit.edu	37	2	44187698	44187698	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44187698C>A	ENST00000260665.7	-	13	1621	c.1564G>T	c.(1564-1566)Gac>Tac	p.D522Y	LRPPRC_ENST00000409946.1_Missense_Mutation_p.D522Y	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	522					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATACAAAGTCTAAGTTCCCA	0.363																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(1564-1566)Gac>Tac		leucine-rich pentatricopeptide repeat containing							145.0	140.0	142.0					2																	44187698		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44187698C>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1564G>T	2.37:g.44187698C>A	ENSP00000260665:p.Asp522Tyr					LRPPRC_ENST00000409946.1_Missense_Mutation_p.D522Y	p.D522Y	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			13	1621	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	522					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.1564G>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463007	0.43736	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946	T;T	0.58358	0.36;0.34	4.93	3.1	0.35709	.	0.427763	0.26224	N	0.025614	T	0.53190	0.1781	L	0.57536	1.79	0.52501	D	0.999957	P;P	0.52842	0.938;0.956	P;P	0.50860	0.652;0.564	T	0.50533	-0.8817	10	0.48119	T	0.1	-7.6108	6.7572	0.23520	0.0:0.6849:0.1516:0.1635	.	422;522	F5H4J6;P42704	.;LPPRC_HUMAN	Y	422;522;522	ENSP00000260665:D522Y;ENSP00000386234:D522Y	ENSP00000260665:D522Y	D	-	1	0	LRPPRC	44041202	0.208000	0.23494	0.899000	0.35326	0.682000	0.39822	0.068000	0.14531	0.631000	0.30412	0.591000	0.81541	GAC		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		7	57	1	0	1.12685e-05	1	1.24509e-05	7	57				
SCN2A	6326	broad.mit.edu	37	2	166165696	166165696	+	Intron	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166165696C>T	ENST00000375437.2	+	6	895				SCN2A_ENST00000375427.2_Silent_p.N209N|SCN2A_ENST00000357398.3_Silent_p.N209N|SCN2A_ENST00000283256.6_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATTTGTAAACCTAGGCAATG	0.348																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(625-627)aaC>aaT		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						70.0	70.0	70.0					2																	166165696		2202	4299	6501	SO:0001627	intron_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165696C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.606-166C>T	2.37:g.166165696C>T						SCN2A_ENST00000375437.2_Intron|SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Silent_p.N209N	p.N209N			Q99250	SCN2A_HUMAN			6	917	+			209					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.627C>T	CCDS33314.1																																																																																				0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		5	21	0	0	0	1	0	5	21				
PTPRD	5789	broad.mit.edu	37	9	8404577	8404577	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:8404577G>A	ENST00000381196.4	-	33	4713	c.4170C>T	c.(4168-4170)atC>atT	p.I1390I	PTPRD_ENST00000537002.1_Silent_p.I980I|PTPRD_ENST00000486161.1_Silent_p.I983I|PTPRD_ENST00000360074.4_Silent_p.I1377I|PTPRD_ENST00000355233.5_Silent_p.I984I|PTPRD_ENST00000397606.3_Silent_p.I983I|PTPRD_ENST00000397611.3_Silent_p.I980I|PTPRD_ENST00000397617.3_Silent_p.I983I|PTPRD_ENST00000356435.5_Silent_p.I1390I|PTPRD_ENST00000358503.5_Silent_p.I1368I|PTPRD_ENST00000540109.1_Silent_p.I1390I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1390	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATCATATGCGATTACATTCG	0.388										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4168-4170)atC>atT		protein tyrosine phosphatase, receptor type, D							180.0	149.0	160.0					9																	8404577		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8404577G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4170C>T	9.37:g.8404577G>A		TSP Lung(15;0.13)				PTPRD_ENST00000355233.5_Silent_p.I984I|PTPRD_ENST00000486161.1_Silent_p.I983I|PTPRD_ENST00000360074.4_Silent_p.I1377I|PTPRD_ENST00000397611.3_Silent_p.I980I|PTPRD_ENST00000397617.3_Silent_p.I983I|PTPRD_ENST00000397606.3_Silent_p.I983I|PTPRD_ENST00000537002.1_Silent_p.I980I|PTPRD_ENST00000540109.1_Silent_p.I1390I|PTPRD_ENST00000358503.5_Silent_p.I1368I|PTPRD_ENST00000356435.5_Silent_p.I1390I	p.I1390I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	33	4713	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1390			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.4170C>T	CCDS43786.1																																																																																				0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			10	18	0	0	0	1	0	10	18				
FAM162A	26355	broad.mit.edu	37	3	122121631	122121631	+	Missense_Mutation	SNP	G	G	T	rs531678380		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122121631G>T	ENST00000477892.1	+	2	143	c.59G>T	c.(58-60)aGa>aTa	p.R20I	FAM162A_ENST00000232125.5_Missense_Mutation_p.R10I|FAM162A_ENST00000469967.1_Missense_Mutation_p.R20I	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	20					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TTATGTGAAAGAGATGTTTCC	0.373																																						ENST00000477892.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(58-60)aGa>aTa		family with sequence similarity 162, member A							84.0	76.0	79.0					3																	122121631		1813	4076	5889	SO:0001583	missense	26355					integral to membrane		g.chr3:122121631G>T	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.59G>T	3.37:g.122121631G>T	ENSP00000419088:p.Arg20Ile					FAM162A_ENST00000232125.5_Missense_Mutation_p.R10I|FAM162A_ENST00000469967.1_Missense_Mutation_p.R20I	p.R20I	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN			2	143	+			20					Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	c.59G>T	CCDS43139.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721036	0.68959	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967;ENST00000440333	T;T;T	0.39056	1.1;1.1;1.1	4.98	4.11	0.48088	.	0.569295	0.18600	N	0.136494	T	0.62502	0.2433	M	0.79805	2.47	0.46185	D	0.998918	D;D	0.69078	0.997;0.997	D;D	0.69824	0.93;0.966	T	0.65166	-0.6234	10	0.87932	D	0	.	9.1212	0.36788	0.0976:0.0:0.9024:0.0	.	20;20	E9PH05;Q96A26	.;F162A_HUMAN	I	10;20;20;20	ENSP00000232125:R10I;ENSP00000419088:R20I;ENSP00000419491:R20I	ENSP00000232125:R10I	R	+	2	0	FAM162A	123604321	1.000000	0.71417	0.988000	0.46212	0.938000	0.57974	3.010000	0.49559	1.335000	0.45486	0.650000	0.86243	AGA		0.373	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		8	21	1	0	0.00307968	1	0.00320271	8	21				
TSPAN18	90139	broad.mit.edu	37	11	44931436	44931436	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:44931436T>C	ENST00000520358.2	+	5	659	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R	TSPAN18_ENST00000340160.3_Missense_Mutation_p.C82R			Q96SJ8	TSN18_HUMAN	tetraspanin 18	82						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						TGAGAACAAGTGTCTGCTGCT	0.647																																						ENST00000340160.3																			0				endometrium(1)|large_intestine(6)|lung(3)	10						c.(244-246)Tgt>Cgt		tetraspanin 18							37.0	41.0	40.0					11																	44931436		2203	4299	6502	SO:0001583	missense	90139					integral to membrane		g.chr11:44931436T>C	AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.244T>C	11.37:g.44931436T>C	ENSP00000429993:p.Cys82Arg					TSPAN18_ENST00000520358.2_Missense_Mutation_p.C82R	p.C82R	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN			4	483	+			82					Q6UY44|Q8NBI9	Missense_Mutation	SNP	ENST00000520358.2	37	c.244T>C	CCDS7910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.5|20.5	3.997266|3.997266	0.74818|0.74818	.|.	.|.	ENSG00000157570|ENSG00000157570	ENST00000533786;ENST00000520358;ENST00000520999;ENST00000340160|ENST00000518429	D;D;D;D|.	0.83250|.	-1.7;-1.7;-1.7;-1.7|.	5.41|5.41	4.24|4.24	0.50183|0.50183	Tetraspanin, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80149|0.80149	0.4570|0.4570	M|M	0.91920|0.91920	3.255|3.255	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.991|.	D;P|.	0.70935|.	0.971;0.827|.	D|D	0.84341|0.84341	0.0527|0.0527	10|5	0.42905|.	T|.	0.14|.	.|.	11.761|11.761	0.51903|0.51903	0.1314:0.0:0.0:0.8686|0.1314:0.0:0.0:0.8686	.|.	82;82|.	Q8WUV1;Q96SJ8|.	.;TSN18_HUMAN|.	R|A	82;82;92;82|85	ENSP00000433592:C82R;ENSP00000429993:C82R;ENSP00000427942:C92R;ENSP00000339820:C82R|.	ENSP00000339820:C82R|.	C|V	+|+	1|2	0|0	TSPAN18|TSPAN18	44888012|44888012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.979000|4.979000	0.63806|0.63806	2.050000|2.050000	0.60909|0.60909	0.454000|0.454000	0.30748|0.30748	TGT|GTG		0.647	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		24	37	0	0	0	1	0	24	37				
IQGAP2	10788	broad.mit.edu	37	5	75964567	75964567	+	Missense_Mutation	SNP	T	T	C	rs146422169		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:75964567T>C	ENST00000274364.6	+	23	3038	c.2741T>C	c.(2740-2742)tTt>tCt	p.F914S	IQGAP2_ENST00000502745.1_Missense_Mutation_p.F410S|IQGAP2_ENST00000396234.3_Missense_Mutation_p.F410S|IQGAP2_ENST00000379730.3_Missense_Mutation_p.F416S	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	914					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCCACTAAATTTATGGATACT	0.343																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2740-2742)tTt>tCt		IQ motif containing GTPase activating protein 2							66.0	66.0	66.0					5																	75964567		2203	4295	6498	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75964567T>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2741T>C	5.37:g.75964567T>C	ENSP00000274364:p.Phe914Ser					IQGAP2_ENST00000379730.3_Missense_Mutation_p.F416S|IQGAP2_ENST00000396234.3_Missense_Mutation_p.F410S|IQGAP2_ENST00000502745.1_Missense_Mutation_p.F410S	p.F914S	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	23	3038	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	914					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.2741T>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683926	0.88639	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000502745	T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.5	5.5	0.81552	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	M	0.82517	2.595	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;1.0;0.998;0.998	D	0.91486	0.5208	10	0.66056	D	0.02	-22.5266	15.5906	0.76523	0.0:0.0:0.0:1.0	.	416;864;410;914	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	S	914;416;864;467;410;410	ENSP00000274364:F914S;ENSP00000442313:F416S;ENSP00000421097:F864S;ENSP00000422661:F467S;ENSP00000379535:F410S;ENSP00000426027:F410S	ENSP00000274364:F914S	F	+	2	0	IQGAP2	76000323	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	8.039000	0.88947	2.081000	0.62600	0.482000	0.46254	TTT		0.343	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		5	25	0	0	0	1	0	5	25				
SNX21	90203	broad.mit.edu	37	20	44469369	44469369	+	Missense_Mutation	SNP	G	G	A	rs201926135		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44469369G>A	ENST00000491381.1	+	4	607	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R180Q|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000372542.1_Missense_Mutation_p.R171Q			Q969T3	SNX21_HUMAN	sorting nexin family member 21	180	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGGCTGCACCGAAACCTGCAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		15014	0.0		0.0	False		,,,				2504	0.001					ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(511-513)cGa>cAa		sorting nexin family member 21							68.0	74.0	72.0					20																	44469369		2203	4300	6503	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469369G>A	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.539G>A	20.37:g.44469369G>A	ENSP00000418593:p.Arg180Gln					SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R180Q|SNX21_ENST00000342644.5_Missense_Mutation_p.R180Q	p.R171Q			Q969T3	SNX21_HUMAN			3	824	+		Myeloproliferative disorder(115;0.0122)	180			PX.		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.512G>A	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803604	0.70682	.	.	ENSG00000124104	ENST00000491381;ENST00000342644;ENST00000372542	T;T;T	0.40476	1.03;1.03;1.03	4.32	4.32	0.51571	Phox homologous domain (5);	0.497022	0.19809	N	0.105575	T	0.41096	0.1144	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.65815	0.993;0.96;0.995	P;P;P	0.52627	0.69;0.488;0.704	T	0.40757	-0.9546	10	0.51188	T	0.08	-5.161	15.9699	0.80004	0.0:0.0:1.0:0.0	.	171;180;180	Q5JZH3;Q969T3;Q5JZH5	.;SNX21_HUMAN;.	Q	180;180;171	ENSP00000418593:R180Q;ENSP00000344586:R180Q;ENSP00000361620:R171Q	ENSP00000344586:R180Q	R	+	2	0	SNX21	43902776	0.990000	0.36364	0.999000	0.59377	0.989000	0.77384	2.591000	0.46163	2.249000	0.74217	0.462000	0.41574	CGA		0.637	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		50	126	0	0	0	1	0	50	126				
DPH3	285381	broad.mit.edu	37	3	16302288	16302288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:16302288C>A	ENST00000488423.1	-	3	327	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	DPH3_ENST00000285082.4_5'UTR|DPH3_ENST00000383775.4_Nonsense_Mutation_p.E53*	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	78					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(2)	2						TTAACTAATTCTTTGTTGGCT	0.413																																						ENST00000488423.1																			0				large_intestine(2)	2						c.(232-234)Gaa>Taa		diphthamide biosynthesis 3							105.0	98.0	101.0					3																	16302288		2203	4300	6503	SO:0001587	stop_gained	285381				negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding	g.chr3:16302288C>A	BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"""DPH3A, KTI11 homolog A (S. cerevisiae)"""	608959	"""zinc finger, CSL-type containing 2"", ""DPH3 homolog (KTI11, S. cerevisiae)"", ""DPH3, KTI11 homolog (S. cerevisiae)"""	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.232G>T	3.37:g.16302288C>A	ENSP00000419599:p.Glu78*					DPH3_ENST00000383775.4_Nonsense_Mutation_p.E53*|DPH3_ENST00000285082.4_5'UTR	p.E78*	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN			3	327	-			78						Nonsense_Mutation	SNP	ENST00000488423.1	37	c.232G>T	CCDS2629.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122954	0.94429	.	.	ENSG00000154813	ENST00000488423;ENST00000383775	.	.	.	5.73	5.73	0.89815	.	0.053286	0.64402	D	0.000001	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.3262	16.802	0.85617	0.0:1.0:0.0:0.0	.	.	.	.	X	78;53	.	ENSP00000373285:E53X	E	-	1	0	DPH3	16277292	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.919000	0.56439	2.697000	0.92050	0.491000	0.48974	GAA		0.413	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252108.2	NM_206831		7	13	1	0	0.00307968	1	0.00320271	7	13				
TPD52	7163	broad.mit.edu	37	8	80992558	80992558	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:80992558T>C	ENST00000379097.3	-	1	493	c.131A>G	c.(130-132)cAg>cGg	p.Q44R	TPD52_ENST00000519303.2_Intron|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000448733.2_Missense_Mutation_p.Q44R|TPD52_ENST00000517427.1_Missense_Mutation_p.Q44R|TPD52_ENST00000537855.1_Missense_Mutation_p.Q44R|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000520527.1_Missense_Mutation_p.Q44R	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	44					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			ACCAAATTTCTGAAGAGTAGG	0.383																																						ENST00000520527.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(130-132)cAg>cGg		tumor protein D52							63.0	64.0	64.0					8																	80992558		2203	4300	6503	SO:0001583	missense	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80992558T>C	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.131A>G	8.37:g.80992558T>C	ENSP00000368391:p.Gln44Arg					TPD52_ENST00000448733.2_Missense_Mutation_p.Q44R|TPD52_ENST00000379097.3_Missense_Mutation_p.Q44R|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000517427.1_Missense_Mutation_p.Q44R|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000537855.1_Missense_Mutation_p.Q44R|TPD52_ENST00000519303.2_Intron	p.Q44R			P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		1	493	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	44					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	ENST00000379097.3	37	c.131A>G	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.648111	0.29336	.	.	ENSG00000076554	ENST00000537855;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097	T;T;T;T;T	0.22539	2.28;1.97;1.97;1.97;1.95	5.38	5.38	0.77491	.	139.961000	0.00465	N	0.000103	T	0.17577	0.0422	N	0.19112	0.55	0.19300	N	0.999974	B	0.06786	0.001	B	0.04013	0.001	T	0.11567	-1.0582	10	0.36615	T	0.2	.	7.6927	0.28577	0.1298:0.0:0.1519:0.7183	.	44	P55327	TPD52_HUMAN	R	44	ENSP00000438113:Q44R;ENSP00000429309:Q44R;ENSP00000429351:Q44R;ENSP00000410222:Q44R;ENSP00000368391:Q44R	ENSP00000368391:Q44R	Q	-	2	0	TPD52	81155113	0.915000	0.31059	0.901000	0.35422	0.987000	0.75469	1.061000	0.30542	2.266000	0.75297	0.472000	0.43445	CAG		0.383	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		13	20	0	0	0	1	0	13	20				
C16orf70	80262	broad.mit.edu	37	16	67168075	67168075	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67168075A>G	ENST00000219139.3	+	7	643	c.455A>G	c.(454-456)aAt>aGt	p.N152S	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.N152S	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	152										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TTGCAGCCCAATTTTGCCCAT	0.493																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(454-456)aAt>aGt		chromosome 16 open reading frame 70							105.0	97.0	99.0					16																	67168075		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67168075A>G	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.455A>G	16.37:g.67168075A>G	ENSP00000219139:p.Asn152Ser					C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.N152S	p.N152S	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	7	643	+		Ovarian(137;0.192)	152					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.455A>G	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.236482	0.39498	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.98	5.98	0.97165	.	0.050947	0.85682	D	0.000000	T	0.47691	0.1459	N	0.10874	0.06	0.52501	D	0.999958	D;B	0.60575	0.988;0.002	P;B	0.57911	0.829;0.006	T	0.45527	-0.9255	9	0.20046	T	0.44	-5.4749	14.4302	0.67243	1.0:0.0:0.0:0.0	.	227;152	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	S	152	.	ENSP00000219139:N152S	N	+	2	0	C16orf70	65725576	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.674000	0.68117	2.288000	0.76882	0.528000	0.53228	AAT		0.493	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		27	48	0	0	0	1	0	27	48				
KDSR	2531	broad.mit.edu	37	18	61002592	61002592	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61002592C>T	ENST00000406396.3	-	9	1169		c.e9-1		KDSR_ENST00000589592.1_Splice_Site|KDSR_ENST00000326575.5_Splice_Site	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase						3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AATTTCCTTGCTAAAAGAGAA	0.468																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.e9-1		3-ketodihydrosphingosine reductase							55.0	56.0	55.0					18																	61002592		2203	4300	6503	SO:0001630	splice_region_variant	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61002592C>T		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.778-1G>A	18.37:g.61002592C>T						KDSR_ENST00000326575.5_Splice_Site|KDSR_ENST00000589592.1_Splice_Site		NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			9	1169	-								B2R5Y1|B4DMX0	Splice_Site	SNP	ENST00000406396.3	37		CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333039	0.81801	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6937	0.96012	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KDSR	59153572	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	7.757000	0.85209	2.665000	0.90641	0.655000	0.94253	.		0.468	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2		Intron	20	29	0	0	0	1	0	20	29				
CTDSPL2	51496	broad.mit.edu	37	15	44789312	44789312	+	Silent	SNP	G	G	A	rs376913959		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44789312G>A	ENST00000260327.4	+	7	1421	c.858G>A	c.(856-858)ccG>ccA	p.P286P	CTDSPL2_ENST00000558373.1_Silent_p.P214P|CTDSPL2_ENST00000396780.1_Silent_p.P214P|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000558966.1_Silent_p.P286P	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	286	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GAAGCACACCGGAATTCTCCC	0.358																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.(856-858)ccG>ccA		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2		G		0,4396		0,0,2198	63.0	64.0	64.0		858	1.6	1.0	15		64	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	CTDSPL2	NM_016396.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		286/467	44789312	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	51496						phosphoprotein phosphatase activity	g.chr15:44789312G>A	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.858G>A	15.37:g.44789312G>A						CTDSPL2_ENST00000558373.1_Silent_p.P214P|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000396780.1_Silent_p.P214P|CTDSPL2_ENST00000558966.1_Silent_p.P286P	p.P286P	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	7	1421	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	286			FCP1 homology.		Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Silent	SNP	ENST00000260327.4	37	c.858G>A	CCDS10110.1																																																																																				0.358	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		16	43	0	0	0	1	0	16	43				
NTSR1	4923	broad.mit.edu	37	20	61341007	61341007	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61341007G>A	ENST00000370501.3	+	1	819	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	150					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCTGCGCGACGCCTGCACCTA	0.667																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(448-450)Gcc>Acc		neurotensin receptor 1 (high affinity)							55.0	52.0	53.0					20																	61341007		2202	4299	6501	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61341007G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.448G>A	20.37:g.61341007G>A	ENSP00000359532:p.Ala150Thr						p.A150T	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	819	+	Breast(26;3.65e-08)		150					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.448G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948405	0.18356	.	.	ENSG00000101188	ENST00000370501	T	0.71698	-0.59	5.15	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.183779	0.49305	D	0.000143	T	0.49253	0.1546	N	0.04768	-0.165	0.32601	N	0.525895	D	0.55172	0.97	P	0.46208	0.507	T	0.55471	-0.8136	10	0.17832	T	0.49	-45.7873	8.8543	0.35219	0.08:0.1519:0.7681:0.0	.	150	P30989	NTR1_HUMAN	T	150	ENSP00000359532:A150T	ENSP00000359532:A150T	A	+	1	0	NTSR1	60811452	1.000000	0.71417	0.911000	0.35937	0.990000	0.78478	3.877000	0.56123	1.136000	0.42199	0.561000	0.74099	GCC		0.667	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			36	75	0	0	0	1	0	36	75				
TBC1D8B	54885	broad.mit.edu	37	X	106083350	106083350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106083350C>T	ENST00000357242.5	+	9	1600	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	TBC1D8B_ENST00000310452.2_Nonsense_Mutation_p.R476*|TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.R470*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	476							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAGTATGTTTCGAACCAAAAA	0.348																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1426-1428)Cga>Tga		TBC1 domain family, member 8B (with GRAM domain)							150.0	138.0	142.0					X																	106083350		2203	4300	6503	SO:0001587	stop_gained	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106083350C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1426C>T	X.37:g.106083350C>T	ENSP00000349781:p.Arg476*					TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.R470*|TBC1D8B_ENST00000310452.2_Nonsense_Mutation_p.R476*	p.R476*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			9	1600	+			476					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Nonsense_Mutation	SNP	ENST00000357242.5	37	c.1426C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003357	0.98605	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	.	.	.	5.88	5.88	0.94601	.	0.138785	0.49305	D	0.000142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.169	17.5848	0.87978	0.0:1.0:0.0:0.0	.	.	.	.	X	476;476;470	.	ENSP00000276175:R470X	R	+	1	2	TBC1D8B	105970006	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.828000	0.62730	2.474000	0.83562	0.600000	0.82982	CGA		0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		33	67	0	0	0	1	0	33	67				
TMEM164	84187	broad.mit.edu	37	X	109414704	109414704	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109414704C>A	ENST00000372073.1	+	6	979	c.643C>A	c.(643-645)Ctc>Atc	p.L215I	TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372072.3_Missense_Mutation_p.L66I|TMEM164_ENST00000372068.2_Missense_Mutation_p.L215I|TMEM164_ENST00000288381.4_Missense_Mutation_p.L176I			Q5U3C3	TM164_HUMAN	transmembrane protein 164	215						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CTCAACTGGCCTCATGTTCTT	0.507																																						ENST00000372073.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(643-645)Ctc>Atc		transmembrane protein 164							367.0	317.0	334.0					X																	109414704		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109414704C>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.643C>A	X.37:g.109414704C>A	ENSP00000361143:p.Leu215Ile					TMEM164_ENST00000372072.3_Missense_Mutation_p.L66I|TMEM164_ENST00000372068.2_Missense_Mutation_p.L215I|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.L176I	p.L215I			Q5U3C3	TM164_HUMAN			6	979	+			215					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.643C>A	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570883	0.28003	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.3	5.3	0.74995	.	0.232492	0.44097	D	0.000485	T	0.31918	0.0812	N	0.11341	0.13	0.43793	D	0.996337	B;B	0.12630	0.006;0.006	B;B	0.12156	0.007;0.007	T	0.14924	-1.0455	10	0.20519	T	0.43	-10.8704	11.8379	0.52336	0.0:0.9065:0.0:0.0935	.	176;215	Q9H617;Q5U3C3	.;TM164_HUMAN	I	66;215;215;176;176	ENSP00000384075:L66I;ENSP00000361143:L215I;ENSP00000361138:L215I;ENSP00000288381:L176I	ENSP00000288381:L176I	L	+	1	0	TMEM164	109301360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.837000	0.48191	2.207000	0.71202	0.523000	0.50628	CTC		0.507	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		34	371	1	0	1.62565e-12	1	2.05093e-12	34	371				
KIDINS220	57498	broad.mit.edu	37	2	8871069	8871069	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:8871069G>A	ENST00000256707.3	-	30	5278	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000427284.1_Silent_p.F1680F|KIDINS220_ENST00000473731.1_Silent_p.F1680F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1699					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCTCATCGAAATTTTGAT	0.468																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(5095-5097)ttC>ttT		kinase D-interacting substrate, 220kDa							120.0	111.0	114.0					2																	8871069		1908	4129	6037	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871069G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.5097C>T	2.37:g.8871069G>A						KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000427284.1_Silent_p.F1680F	p.F1699F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			30	5278	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1699					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.5097C>T	CCDS42650.1																																																																																				0.468	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		25	31	0	0	0	1	0	25	31				
ANGPT4	51378	broad.mit.edu	37	20	858965	858965	+	Silent	SNP	G	G	A	rs112090528	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:858965G>A	ENST00000381922.3	-	7	1161	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	ANGPT4_ENST00000546022.1_Silent_p.F353F	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	353	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGGGTCTCCGAAGCCCTATA	0.632																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1057-1059)ttC>ttT		angiopoietin 4		G		3,4403	6.2+/-15.9	0,3,2200	30.0	29.0	29.0		1059	0.6	1.0	20	dbSNP_132	29	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ANGPT4	NM_015985.2		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		353/504	858965	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:858965G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1059C>T	20.37:g.858965G>A						ANGPT4_ENST00000546022.1_Silent_p.F353F	p.F353F	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			7	1161	-			353			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.1059C>T	CCDS13009.1																																																																																				0.632	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		13	19	0	0	0	1	0	13	19				
SYT14	255928	broad.mit.edu	37	1	210267762	210267762	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:210267762A>G	ENST00000472886.1	+	5	552	c.538A>G	c.(538-540)Aca>Gca	p.T180A	SYT14_ENST00000367019.1_Missense_Mutation_p.T180A|SYT14_ENST00000399639.2_Missense_Mutation_p.T180A|SYT14_ENST00000422431.1_Missense_Mutation_p.T225A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.T180A|SYT14_ENST00000537238.1_Missense_Mutation_p.T142A|SYT14_ENST00000367015.1_Missense_Mutation_p.T142A			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	180					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCTGTCATGTACACCCTCAGA	0.473																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(424-426)Aca>Gca		synaptotagmin XIV							108.0	103.0	104.0					1																	210267762		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210267762A>G	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.538A>G	1.37:g.210267762A>G	ENSP00000418901:p.Thr180Ala					SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.T225A|SYT14_ENST00000367019.1_Missense_Mutation_p.T180A|SYT14_ENST00000367015.1_Missense_Mutation_p.T142A|SYT14_ENST00000534859.1_Missense_Mutation_p.T180A|SYT14_ENST00000399639.2_Missense_Mutation_p.T180A|SYT14_ENST00000472886.1_Missense_Mutation_p.T180A	p.T142A	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	815	+			180					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.424A>G	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.187377	0.38609	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.17691	3.38;3.24;2.26;3.51;3.25;3.51;3.51	5.62	5.62	0.85841	.	0.053204	0.85682	D	0.000000	T	0.15349	0.0370	L	0.50333	1.59	0.49582	D	0.9998	B;B;P;B	0.39181	0.064;0.109;0.663;0.058	B;B;B;B	0.35114	0.021;0.021;0.196;0.017	T	0.05241	-1.0897	10	0.10111	T	0.7	-15.3977	14.3668	0.66810	1.0:0.0:0.0:0.0	.	208;180;180;225	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	A	225;180;180;142;180;180;142	ENSP00000389039:T225A;ENSP00000442891:T180A;ENSP00000445837:T180A;ENSP00000437423:T142A;ENSP00000355986:T180A;ENSP00000418901:T180A;ENSP00000355982:T142A	ENSP00000355982:T142A	T	+	1	0	SYT14	208334385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.830000	0.75319	2.140000	0.66376	0.482000	0.46254	ACA		0.473	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		21	44	0	0	0	1	0	21	44				
COL4A6	1288	broad.mit.edu	37	X	107420147	107420147	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107420147A>G	ENST00000372216.4	-	28	2713	c.2613T>C	c.(2611-2613)aaT>aaC	p.N871N	COL4A6_ENST00000334504.7_Silent_p.N870N|COL4A6_ENST00000538570.1_Silent_p.N870N|COL4A6_ENST00000545689.1_Silent_p.N870N|COL4A6_ENST00000394872.2_Silent_p.N871N	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	871	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTAGGCCTGGATTTCCAGGAA	0.527									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2611-2613)aaT>aaC		collagen, type IV, alpha 6							134.0	134.0	134.0					X																	107420147		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107420147A>G	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2613T>C	X.37:g.107420147A>G						COL4A6_ENST00000545689.1_Silent_p.N870N|COL4A6_ENST00000372216.4_Silent_p.N871N|COL4A6_ENST00000538570.1_Silent_p.N870N|COL4A6_ENST00000334504.7_Silent_p.N870N	p.N871N			Q14031	CO4A6_HUMAN			28	2844	-			871			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.2613T>C	CCDS14541.1																																																																																				0.527	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			62	104	0	0	0	1	0	62	104				
C7orf62	219557	broad.mit.edu	37	7	88423783	88423783	+	Silent	SNP	G	G	A	rs377269794		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88423783G>A	ENST00000297203.2	-	2	659	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	158										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCACATCGTCGAGATACATAA	0.363																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(472-474)ctC>ctT		chromosome 7 open reading frame 62		G	,	0,4406		0,0,2203	135.0	119.0	124.0		474,	-12.1	0.0	7		124	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	C7orf62,ZNF804B	NM_152706.2,NM_181646.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	158/254,	88423783	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	219557							g.chr7:88423783G>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.474C>T	7.37:g.88423783G>A						ZNF804B_ENST00000333190.4_Intron	p.L158L	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	659	-			158						Silent	SNP	ENST00000297203.2	37	c.474C>T	CCDS34678.1																																																																																				0.363	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		24	61	0	0	0	1	0	24	61				
ST8SIA4	7903	broad.mit.edu	37	5	100191882	100191882	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:100191882T>C	ENST00000231461.5	-	4	1032	c.722A>G	c.(721-723)aAt>aGt	p.N241S		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	241					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GATTAATGCATTAACCCACTC	0.423																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(721-723)aAt>aGt		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							185.0	163.0	170.0					5																	100191882		2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100191882T>C	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.722A>G	5.37:g.100191882T>C	ENSP00000231461:p.Asn241Ser						p.N241S	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	4	1032	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	241					A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.722A>G	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.093756	0.56075	.	.	ENSG00000113532	ENST00000231461	T	0.28454	1.61	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.61387	1.9	0.80722	D	1	B	0.28258	0.205	B	0.19148	0.024	T	0.06972	-1.0797	10	0.19147	T	0.46	-8.1148	14.6008	0.68441	0.0:0.0:0.0:1.0	.	241	Q92187	SIA8D_HUMAN	S	241	ENSP00000231461:N241S	ENSP00000231461:N241S	N	-	2	0	ST8SIA4	100219781	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	5.087000	0.64480	2.220000	0.72140	0.482000	0.46254	AAT		0.423	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		29	43	0	0	0	1	0	29	43				
KRTAP21-2	337978	broad.mit.edu	37	21	32119291	32119291	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:32119291C>A	ENST00000333892.2	-	1	260	c.230G>T	c.(229-231)aGa>aTa	p.R77I		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	77						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)			lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GGAATAGCATCTTCTGTAGCA	0.483																																						ENST00000333892.2																			0				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(229-231)aGa>aTa		keratin associated protein 21-2							134.0	126.0	129.0					21																	32119291		2203	4300	6503	SO:0001583	missense	337978					intermediate filament		g.chr21:32119291C>A	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"""Keratin associated proteins"""	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.230G>T	21.37:g.32119291C>A	ENSP00000334287:p.Arg77Ile						p.R77I	NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN			1	260	-			77						Missense_Mutation	SNP	ENST00000333892.2	37	c.230G>T	CCDS13605.1	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047306	0.19827	.	.	ENSG00000187026	ENST00000333892	T	0.11169	2.8	4.5	-0.852	0.10713	.	.	.	.	.	T	0.07188	0.0182	.	.	.	0.09310	N	1	B	0.29085	0.232	B	0.29942	0.109	T	0.38112	-0.9676	8	0.87932	D	0	-0.9017	1.315	0.02105	0.1499:0.4381:0.146:0.266	.	77	Q3LI59	KR212_HUMAN	I	77	ENSP00000334287:R77I	ENSP00000334287:R77I	R	-	2	0	KRTAP21-2	31041162	0.006000	0.16342	0.000000	0.03702	0.150000	0.21749	-0.429000	0.06982	-0.435000	0.07264	0.650000	0.86243	AGA		0.483	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			73	115	1	0	1.15074e-40	1	1.66211e-40	73	115				
GPR153	387509	broad.mit.edu	37	1	6314737	6314737	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6314737C>T	ENST00000377893.2	-	2	488	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TCATTCCACTCGAAGTCGGGG	0.617																																						ENST00000377893.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(229-231)Gag>Aag		G protein-coupled receptor 153							153.0	132.0	139.0					1																	6314737		2203	4300	6503	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314737C>T	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.229G>A	1.37:g.6314737C>T	ENSP00000367125:p.Glu77Lys						p.E77K	NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	2	488	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	77					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.229G>A	CCDS64.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191128	0.94923	.	.	ENSG00000158292	ENST00000377893	T	0.37235	1.21	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.30621	-0.9972	10	0.27785	T	0.31	-46.7377	17.7842	0.88532	0.0:1.0:0.0:0.0	.	77	Q6NV75	GP153_HUMAN	K	77	ENSP00000367125:E77K	ENSP00000367125:E77K	E	-	1	0	GPR153	6237324	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.757000	0.85209	2.534000	0.85438	0.557000	0.71058	GAG		0.617	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			48	106	0	0	0	1	0	48	106				
PIWIL4	143689	broad.mit.edu	37	11	94318621	94318621	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94318621A>C	ENST00000299001.6	+	6	857	c.646A>C	c.(646-648)Aag>Cag	p.K216Q	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	216					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATCCTCAAAAAGTTGTCCAT	0.333																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(646-648)Aag>Cag		piwi-like RNA-mediated gene silencing 4							114.0	120.0	118.0					11																	94318621		2201	4297	6498	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94318621A>C	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.646A>C	11.37:g.94318621A>C	ENSP00000299001:p.Lys216Gln					RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.K216Q	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			6	857	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	216					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.646A>C	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.113906	0.37339	.	.	ENSG00000134627	ENST00000299001	T	0.09911	2.93	4.87	4.87	0.63330	Argonaute/Dicer protein, PAZ (1);	0.265813	0.31747	N	0.007123	T	0.12603	0.0306	L	0.55834	1.745	0.80722	D	1	B	0.21821	0.061	B	0.23275	0.045	T	0.05632	-1.0873	10	0.26408	T	0.33	-8.5669	13.5809	0.61903	1.0:0.0:0.0:0.0	.	216	Q7Z3Z4	PIWL4_HUMAN	Q	216	ENSP00000299001:K216Q	ENSP00000299001:K216Q	K	+	1	0	PIWIL4	93958269	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	7.336000	0.79245	2.048000	0.60808	0.459000	0.35465	AAG		0.333	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		33	75	0	0	0	1	0	33	75				
OPHN1	4983	broad.mit.edu	37	X	67333047	67333047	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67333047G>T	ENST00000355520.5	-	17	2037	c.1396C>A	c.(1396-1398)Cac>Aac	p.H466N	OPHN1_ENST00000484842.1_5'Flank|OPHN1_ENST00000540071.1_Missense_Mutation_p.H466N	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	466	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGCTCTTTGTGAAGTCTATAG	0.363																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(1396-1398)Cac>Aac		oligophrenin 1							79.0	69.0	72.0					X																	67333047		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67333047G>T	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1396C>A	X.37:g.67333047G>T	ENSP00000347710:p.His466Asn					OPHN1_ENST00000540071.1_Missense_Mutation_p.H466N	p.H466N	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			17	2037	-			466			Rho-GAP.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.1396C>A	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020651	0.75275	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.18502	2.21;2.21	4.32	4.32	0.51571	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	M	0.80422	2.495	0.80722	D	1	D;D	0.69078	0.989;0.997	D;D	0.79108	0.969;0.992	T	0.47368	-0.9123	10	0.87932	D	0	.	13.2242	0.59905	0.0:0.0:1.0:0.0	.	466;466	F5H2E3;O60890	.;OPHN1_HUMAN	N	466	ENSP00000347710:H466N;ENSP00000438617:H466N	ENSP00000347710:H466N	H	-	1	0	OPHN1	67249772	1.000000	0.71417	0.826000	0.32828	0.956000	0.61745	5.319000	0.65835	1.975000	0.57531	0.594000	0.82650	CAC		0.363	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		7	22	1	0	3.09899e-07	1	3.54467e-07	7	22				
RHD	6007	broad.mit.edu	37	1	25599130	25599130	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:25599130T>G	ENST00000328664.4	+	1	247	c.92T>G	c.(91-93)tTt>tGt	p.F31C	RHD_ENST00000568195.1_Missense_Mutation_p.F31C|RHD_ENST00000417538.2_Missense_Mutation_p.F31C|RHD_ENST00000357542.4_Missense_Mutation_p.F31C|RHD_ENST00000454452.2_Missense_Mutation_p.F31C|RHD_ENST00000342055.5_Missense_Mutation_p.F31C|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Missense_Mutation_p.F31C	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	31						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCTATTTTTTTACCCACTAT	0.527																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14	GRCh37	CM074996	RHD	M		c.(91-93)tTt>tGt		Rh blood group, D antigen							69.0	61.0	64.0					1																	25599130		2201	4296	6497	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25599130T>G	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.92T>G	1.37:g.25599130T>G	ENSP00000331871:p.Phe31Cys					RHD_ENST00000417538.2_Missense_Mutation_p.F31C|RHD_ENST00000454452.2_Missense_Mutation_p.F31C|RHD_ENST00000568195.1_Missense_Mutation_p.F31C|RHD_ENST00000357542.4_Missense_Mutation_p.F31C|RHD_ENST00000342055.5_Missense_Mutation_p.F31C|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Missense_Mutation_p.F31C	p.F31C	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	1	247	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	31					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.92T>G	CCDS262.1	.	.	.	.	.	.	.	.	.	.	t	12.96	2.095249	0.36952	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	3.5	2.32	0.28847	Ammonium transporter AmtB-like (1);	0.733035	0.14062	N	0.344007	T	0.51975	0.1706	M	0.80746	2.51	0.30817	N	0.738182	P;P;D;P;B;D;P;P	0.89917	0.567;0.751;1.0;0.536;0.234;0.996;0.929;0.866	B;P;D;B;B;D;P;P	0.85130	0.366;0.652;0.997;0.398;0.366;0.917;0.737;0.6	T	0.51593	-0.8686	10	0.52906	T	0.07	-6.837	6.1386	0.20247	0.2265:0.0:0.0:0.7735	.	31;31;31;31;31;31;31;31	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	C	31	ENSP00000331871:F31C;ENSP00000413849:F31C;ENSP00000339577:F31C;ENSP00000350150:F31C;ENSP00000396420:F31C;ENSP00000399640:F31C	ENSP00000331871:F31C	F	+	2	0	RHD	25471717	0.972000	0.33761	0.083000	0.20561	0.027000	0.11550	2.018000	0.40991	0.345000	0.23873	0.433000	0.28618	TTT		0.527	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		4	85	0	0	0	1	0	4	85				
ZFYVE9	9372	broad.mit.edu	37	1	52704608	52704608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52704608G>T	ENST00000371591.1	+	3	1650	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.E507*|ZFYVE9_ENST00000287727.3_Nonsense_Mutation_p.E507*	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	507					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						AGAAGAAAAAGAAATAGAGGA	0.388																																						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.(1519-1521)Gaa>Taa		zinc finger, FYVE domain containing 9							54.0	57.0	56.0					1																	52704608		2203	4300	6503	SO:0001587	stop_gained	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.chr1:52704608G>T	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.1519G>T	1.37:g.52704608G>T	ENSP00000360647:p.Glu507*					ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.E507*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.E507*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.E507*	p.E507*	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	1691	+			507					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Nonsense_Mutation	SNP	ENST00000371591.1	37	c.1519G>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	38	6.670482	0.97751	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.8113	0.96547	0.0:0.0:1.0:0.0	.	.	.	.	X	507	.	ENSP00000287727:E507X	E	+	1	0	ZFYVE9	52477196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.690000	0.91761	0.655000	0.94253	GAA		0.388	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		12	47	1	0	0.00010058	1	0.000108553	12	47				
ATR	545	broad.mit.edu	37	3	142178199	142178199	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142178199G>A	ENST00000350721.4	-	43	7340	c.7219C>T	c.(7219-7221)Cgc>Tgc	p.R2407C	ATR_ENST00000383101.3_Missense_Mutation_p.R2343C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2407	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATACACTGGCGAAGTTCTTTT	0.383								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7219-7221)Cgc>Tgc	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							61.0	59.0	60.0					3																	142178199		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142178199G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7219C>T	3.37:g.142178199G>A	ENSP00000343741:p.Arg2407Cys					ATR_ENST00000383101.3_Missense_Mutation_p.R2343C	p.R2407C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			43	7340	-			2407			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7219C>T	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.583950|3.583950	0.65992|0.65992	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.76316|.	-1.01;-1.01|.	4.58|4.58	4.58|4.58	0.56647|0.56647	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75620|0.75620	0.3874|0.3874	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.66351|.	0.943|.	T|T	0.76838|0.76838	-0.2811|-0.2811	10|5	0.72032|.	D|.	0.01|.	-2.5085|-2.5085	17.7085|17.7085	0.88315|0.88315	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2407|.	Q13535|.	ATR_HUMAN|.	C|L	2407;2343|253	ENSP00000343741:R2407C;ENSP00000372581:R2343C|.	ENSP00000343741:R2407C|.	R|S	-|-	1|2	0|0	ATR|ATR	143660889|143660889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.777000|4.777000	0.62361|0.62361	2.265000|2.265000	0.75225|0.75225	0.491000|0.491000	0.48974|0.48974	CGC|TCG		0.383	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		16	28	0	0	0	1	0	16	28				
IGHG3	3502	broad.mit.edu	37	14	106236822	106236822	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106236822G>A	ENST00000390551.2	-	0	385							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GCTTACCTGGGCACCGTGGGC	0.642																																						ENST00000390551.2																			0																				122.0	147.0	139.0					14																	106236822		1967	4148	6115			0							g.chr14:106236822G>A	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236822G>A														0	385	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.642	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		88	152	0	0	0	1	0	88	152				
SYCP2	10388	broad.mit.edu	37	20	58489048	58489048	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58489048A>G	ENST00000357552.3	-	12	1037	c.812T>C	c.(811-813)aTg>aCg	p.M271T	SYCP2_ENST00000371001.2_Missense_Mutation_p.M271T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	271					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTCTCCAAGCATGCCATTTAC	0.299																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(811-813)aTg>aCg		synaptonemal complex protein 2							65.0	63.0	64.0					20																	58489048		2201	4298	6499	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58489048A>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.812T>C	20.37:g.58489048A>G	ENSP00000350162:p.Met271Thr					SYCP2_ENST00000371001.2_Missense_Mutation_p.M271T	p.M271T			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		12	1037	-	all_lung(29;0.00344)		271					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.812T>C	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108066	0.37242	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04809	3.55;3.55;3.55	4.91	3.73	0.42828	.	0.164522	0.43416	D	0.000569	T	0.06917	0.0176	L	0.51422	1.61	0.33878	D	0.635741	B;B	0.34329	0.096;0.449	B;B	0.38106	0.054;0.265	T	0.13845	-1.0494	10	0.41790	T	0.15	-6.4532	10.7699	0.46316	0.858:0.0:0.0:0.1419	.	271;271	A2A341;Q9BX26	.;SYCP2_HUMAN	T	271	ENSP00000360040:M271T;ENSP00000350162:M271T;ENSP00000402456:M271T	ENSP00000350162:M271T	M	-	2	0	SYCP2	57922443	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.175000	0.77632	1.968000	0.57251	0.533000	0.62120	ATG		0.299	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		3	10	0	0	0	1	0	3	10				
LAMA3	3909	broad.mit.edu	37	18	21399891	21399891	+	Missense_Mutation	SNP	G	G	A	rs200367371		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21399891G>A	ENST00000313654.9	+	19	2475	c.2234G>A	c.(2233-2235)cGa>cAa	p.R745Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R745Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	745					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R745Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGAGACCTTCGATTTGGATTT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		19049	0.0		0.001	False		,,,				2504	0.0					ENST00000313654.9																			1	Substitution - Missense(1)	p.R745Q(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(2233-2235)cGa>cAa		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						139.0	131.0	133.0					18																	21399891		1906	4127	6033	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21399891G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2234G>A	18.37:g.21399891G>A	ENSP00000324532:p.Arg745Gln					LAMA3_ENST00000399516.3_Missense_Mutation_p.R745Q	p.R745Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			19	2475	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		745					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2234G>A	CCDS42419.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.8	5.038708	0.93630	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.22743	1.95;1.94	5.47	5.47	0.80525	.	.	.	.	.	T	0.55816	0.1944	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.62737	-0.6791	9	0.59425	D	0.04	.	19.3278	0.94270	0.0:0.0:1.0:0.0	.	745;745	Q6VU67;Q16787	.;LAMA3_HUMAN	Q	745;745;743	ENSP00000324532:R745Q;ENSP00000382432:R745Q	ENSP00000324532:R745Q	R	+	2	0	LAMA3	19653889	1.000000	0.71417	0.972000	0.41901	0.618000	0.37518	9.399000	0.97285	2.579000	0.87056	0.555000	0.69702	CGA		0.443	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		19	39	0	0	0	1	0	19	39				
KLHL30	377007	broad.mit.edu	37	2	239049878	239049878	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239049878C>A	ENST00000409223.1	+	2	590	c.483C>A	c.(481-483)aaC>aaA	p.N161K	KLHL30_ENST00000305959.4_Missense_Mutation_p.N143K			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	161	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGCGAGAGAACTTTGAGGCTG	0.642																																						ENST00000409223.1																			0				lung(4)	4						c.(481-483)aaC>aaA		kelch-like family member 30							21.0	27.0	25.0					2																	239049878		2140	4247	6387	SO:0001583	missense	377007							g.chr2:239049878C>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.483C>A	2.37:g.239049878C>A	ENSP00000386389:p.Asn161Lys					KLHL30_ENST00000305959.4_Missense_Mutation_p.N143K	p.N161K			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	590	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	161			BACK.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.483C>A	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793034	0.70452	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.70986	-0.53;-0.53	5.82	4.94	0.65067	BTB/Kelch-associated (2);	0.048581	0.85682	D	0.000000	T	0.80681	0.4669	M	0.67397	2.05	0.47407	D	0.999414	D	0.89917	1.0	D	0.72982	0.979	T	0.80906	-0.1173	10	0.49607	T	0.09	.	11.0083	0.47649	0.0:0.8497:0.0:0.1503	.	161	Q0D2K2	KLH30_HUMAN	K	161;143	ENSP00000386389:N161K;ENSP00000302386:N143K	ENSP00000302386:N143K	N	+	3	2	KLHL30	238714617	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.596000	0.46205	1.481000	0.48307	-0.126000	0.14955	AAC		0.642	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		4	27	1	0	0.00024832	1	0.000265255	4	27				
VPS16	64601	broad.mit.edu	37	20	2841107	2841107	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2841107A>T	ENST00000380445.3	+	5	454	c.382A>T	c.(382-384)Aac>Tac	p.N128Y	VPS16_ENST00000380469.3_Missense_Mutation_p.N128Y|VPS16_ENST00000380443.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	128					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGTGCTCCAGAACCGGGTTCT	0.602																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(382-384)Aac>Tac		vacuolar protein sorting 16 homolog (S. cerevisiae)							77.0	75.0	76.0					20																	2841107		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2841107A>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.382A>T	20.37:g.2841107A>T	ENSP00000369810:p.Asn128Tyr					VPS16_ENST00000380469.3_Missense_Mutation_p.N128Y	p.N128Y	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			5	454	+			128					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.382A>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957779	0.73902	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.44083	0.93;0.93	5.95	5.95	0.96441	Vps16, N-terminal (1);	0.083612	0.85682	D	0.000000	T	0.41442	0.1159	N	0.20881	0.62	0.80722	D	1	D;D	0.64830	0.994;0.975	P;P	0.58077	0.827;0.832	T	0.17258	-1.0375	10	0.07482	T	0.82	-34.1489	14.3621	0.66779	1.0:0.0:0.0:0.0	.	128;128	Q9H269-2;Q9H269	.;VPS16_HUMAN	Y	128;128;10;10	ENSP00000369810:N128Y;ENSP00000369836:N128Y	ENSP00000369810:N128Y	N	+	1	0	VPS16	2789107	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	6.712000	0.74681	2.280000	0.76307	0.460000	0.39030	AAC		0.602	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		30	49	0	0	0	1	0	30	49				
GABBR2	9568	broad.mit.edu	37	9	101340240	101340240	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101340240G>T	ENST00000259455.2	-	2	895	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	146					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CAGCCTTGGAGGGACTCTGCA	0.493																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(436-438)Ctc>Atc		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						194.0	190.0	192.0					9																	101340240		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101340240G>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.436C>A	9.37:g.101340240G>T	ENSP00000259455:p.Leu146Ile						p.L146I	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			2	895	-		Acute lymphoblastic leukemia(62;0.0527)	146					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.436C>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	g	16.59	3.164523	0.57476	.	.	ENSG00000136928	ENST00000259455	D	0.84516	-1.86	4.24	4.24	0.50183	Extracellular ligand-binding receptor (1);	0.000000	0.56097	D	0.000022	D	0.86401	0.5924	L	0.36672	1.1	0.35191	D	0.773375	D	0.57257	0.979	D	0.71414	0.973	D	0.88903	0.3354	10	0.59425	D	0.04	-24.6896	8.1213	0.30974	0.1119:0.0:0.8881:0.0	.	146	O75899	GABR2_HUMAN	I	146	ENSP00000259455:L146I	ENSP00000259455:L146I	L	-	1	0	GABBR2	100380061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.995000	0.57001	1.921000	0.55644	0.550000	0.68814	CTC		0.493	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			22	47	1	0	6.44725e-10	1	7.85205e-10	22	47				
PTPRT	11122	broad.mit.edu	37	20	40944562	40944562	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:40944562G>A	ENST00000373187.1	-	12	1939	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	PTPRT_ENST00000373198.4_Missense_Mutation_p.S647L|PTPRT_ENST00000356100.2_Missense_Mutation_p.S647L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373193.3_Missense_Mutation_p.S647L|PTPRT_ENST00000373184.1_Missense_Mutation_p.S647L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	647	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACGGGCACCGAAAAGCACTC	0.517																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1939-1941)tCg>tTg		protein tyrosine phosphatase, receptor type, T							104.0	103.0	103.0					20																	40944562		2040	4174	6214	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40944562G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1940C>T	20.37:g.40944562G>A	ENSP00000362283:p.Ser647Leu					PTPRT_ENST00000373193.3_Missense_Mutation_p.S647L|PTPRT_ENST00000373184.1_Missense_Mutation_p.S647L|PTPRT_ENST00000356100.2_Missense_Mutation_p.S647L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373187.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S647L	p.S647L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			12	2175	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	647			Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1940C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362023	0.61403	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35789	1.31;1.31;1.31;1.31;1.3;1.29;1.29	5.57	5.57	0.84162	.	0.062950	0.64402	D	0.000003	T	0.32734	0.0839	L	0.38175	1.15	0.51767	D	0.999931	P;B	0.37276	0.589;0.318	B;B	0.33042	0.157;0.075	T	0.17961	-1.0352	10	0.72032	D	0.01	.	19.5559	0.95347	0.0:0.0:1.0:0.0	.	647;647	O14522-1;O14522	.;PTPRT_HUMAN	L	647	ENSP00000362286:S647L;ENSP00000362283:S647L;ENSP00000362289:S647L;ENSP00000348408:S647L;ENSP00000362294:S647L;ENSP00000362280:S647L;ENSP00000362297:S647L	ENSP00000348408:S647L	S	-	2	0	PTPRT	40377976	1.000000	0.71417	0.945000	0.38365	0.995000	0.86356	7.999000	0.88496	2.624000	0.88883	0.563000	0.77884	TCG		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			51	78	0	0	0	1	0	51	78				
TDP1	55775	broad.mit.edu	37	14	90429920	90429920	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:90429920T>G	ENST00000335725.4	+	3	712	c.462T>G	c.(460-462)atT>atG	p.I154M	TDP1_ENST00000393452.3_Missense_Mutation_p.I154M|TDP1_ENST00000555880.1_Missense_Mutation_p.I154M|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Missense_Mutation_p.I154M	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	154					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GCCAGGACATTTGGGACATGC	0.522								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(460-462)atT>atG	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							63.0	58.0	60.0					14																	90429920		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90429920T>G	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.462T>G	14.37:g.90429920T>G	ENSP00000337353:p.Ile154Met					TDP1_ENST00000393454.2_Missense_Mutation_p.I154M|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.I154M|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000555880.1_Missense_Mutation_p.I154M	p.I154M	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	3	712	+		all_cancers(154;0.185)	154					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.462T>G	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.459047	0.43634	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.82;1.51	5.36	-3.18	0.05186	.	0.498118	0.20576	N	0.089624	T	0.13372	0.0324	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.29988	0.006;0.003;0.264;0.003	B;B;B;B	0.24269	0.017;0.008;0.052;0.006	T	0.06232	-1.0838	10	0.33141	T	0.24	-9.7989	3.3047	0.06996	0.1123:0.4176:0.2278:0.2424	.	154;154;154;154	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	M	154;154;154;55;154;154;154	ENSP00000377098:I154M;ENSP00000450872:I154M;ENSP00000377099:I154M;ENSP00000450708:I55M;ENSP00000337353:I154M;ENSP00000452183:I154M;ENSP00000450628:I154M	ENSP00000337353:I154M	I	+	3	3	TDP1	89499673	0.337000	0.24766	0.982000	0.44146	0.993000	0.82548	0.093000	0.15086	-0.191000	0.10448	0.459000	0.35465	ATT		0.522	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		9	63	0	0	0	1	0	9	63				
MED4	29079	broad.mit.edu	37	13	48654089	48654089	+	Silent	SNP	T	T	C	rs149158920	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48654089T>C	ENST00000258648.2	-	6	556	c.531A>G	c.(529-531)ccA>ccG	p.P177P	MED4_ENST00000378586.1_Silent_p.P131P|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000495013.1_5'UTR	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	177					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CTAAATCAGTTGGGTAGGGTC	0.388																																					Pancreas(38;399 1016 9170 13426 20145)	ENST00000258648.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(529-531)ccA>ccG		mediator complex subunit 4		T		1,4405	2.1+/-5.4	0,1,2202	90.0	85.0	86.0		531	3.1	1.0	13	dbSNP_134	86	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous	MED4	NM_014166.2		0,14,6489	CC,CT,TT		0.1512,0.0227,0.1076		177/271	48654089	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	29079				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48654089T>C	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.531A>G	13.37:g.48654089T>C						MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Silent_p.P131P	p.P177P	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	6	556	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	177					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Silent	SNP	ENST00000258648.2	37	c.531A>G	CCDS9408.1																																																																																				0.388	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		17	37	0	0	0	1	0	17	37				
PDE4DIP	9659	broad.mit.edu	37	1	145075802	145075802	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145075802G>A	ENST00000530740.1	-	1	99	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R21C|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R21C|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R21C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGGACGCGCGACAGCAGCAG	0.697			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(61-63)Cgc>Tgc		phosphodiesterase 4D interacting protein							43.0	54.0	50.0					1																	145075802		2200	4287	6487	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075802G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.61C>T	1.37:g.145075802G>A	ENSP00000435654:p.Arg21Cys					PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R21C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R21C|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R21C	p.R21C			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	99	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37	c.61C>T		.	.	.	.	.	.	.	.	.	.	G	13.84	2.357507	0.41801	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.16897	3.63;3.61;2.31	2.06	-1.18	0.09617	.	.	.	.	.	T	0.02727	0.0082	N	0.19112	0.55	0.20074	N	0.999937	B;B	0.14012	0.009;0.001	B;B	0.01281	0.0;0.0	T	0.44452	-0.9327	9	0.39692	T	0.17	.	5.3662	0.16115	0.402:0.0:0.598:0.0	.	21;21	Q5TB27;E9PJ64	.;.	C	21	ENSP00000435654:R21C;ENSP00000358366:R21C;ENSP00000358354:R21C	ENSP00000358351:R21C	R	-	1	0	PDE4DIP	143787159	0.011000	0.17503	0.050000	0.19076	0.375000	0.29983	0.423000	0.21313	-0.358000	0.08162	0.511000	0.50034	CGC		0.697	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		8	117	0	0	0	1	0	8	117				
C9orf170	401535	broad.mit.edu	37	9	89771500	89771500	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:89771500C>T	ENST00000375941.2	+	2	268	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	61										large_intestine(3)|lung(2)|prostate(1)	6						tctgtttctccggaaaaccct	0.378																																						ENST00000375941.2																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(181-183)Cgg>Tgg		chromosome 9 open reading frame 170							24.0	23.0	24.0					9																	89771500		2203	4294	6497	SO:0001583	missense	401535							g.chr9:89771500C>T	AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.181C>T	9.37:g.89771500C>T	ENSP00000365108:p.Arg61Trp						p.R61W	NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN			2	268	+			61						Missense_Mutation	SNP	ENST00000375941.2	37	c.181C>T	CCDS35058.1	.	.	.	.	.	.	.	.	.	.	C	0.302	-0.973350	0.02215	.	.	ENSG00000204446	ENST00000375941	.	.	.	1.17	-0.102	0.13613	.	.	.	.	.	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20638	-1.0269	8	0.87932	D	0	.	3.2715	0.06883	0.0:0.2676:0.0:0.7324	.	61	A2RU37	CI170_HUMAN	W	61	.	ENSP00000365108:R61W	R	+	1	2	C9orf170	88961320	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	0.023000	0.13533	-0.061000	0.13110	-0.355000	0.07637	CGG		0.378	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709		6	8	0	0	0	1	0	6	8				
TRDMT1	1787	broad.mit.edu	37	10	17195593	17195593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:17195593C>A	ENST00000377799.3	-	10	1035	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.E284*|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.E249*|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.E306*|TRDMT1_ENST00000488990.1_Nonsense_Mutation_p.E207*|TRDMT1_ENST00000358282.7_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	330	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	GTTATCTGTTCTTCTTGTGAC	0.343																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(988-990)Gaa>Taa		tRNA aspartic acid methyltransferase 1							134.0	128.0	130.0					10																	17195593		2203	4300	6503	SO:0001587	stop_gained	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17195593C>A	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.988G>T	10.37:g.17195593C>A	ENSP00000367030:p.Glu330*					TRDMT1_ENST00000488990.1_Nonsense_Mutation_p.E207*|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.E249*|TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.E284*|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.E306*|TRDMT1_ENST00000452380.2_5'UTR	p.E330*	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN			10	1035	-			330					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Nonsense_Mutation	SNP	ENST00000377799.3	37	c.988G>T	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	C	37	6.125312	0.97305	.	.	ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000488990	.	.	.	5.62	5.62	0.85841	.	0.096845	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-25.5464	20.0205	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	X	330;306;284;249;207	.	ENSP00000324328:E284X	E	-	1	0	TRDMT1	17235599	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	5.038000	0.64177	2.801000	0.96364	0.650000	0.86243	GAA		0.343	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		10	20	1	0	0.000442599	1	0.00046913	10	20				
NEB	4703	broad.mit.edu	37	2	152574022	152574022	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152574022T>G	ENST00000172853.10	-	10	877	c.730A>C	c.(730-732)Aaa>Caa	p.K244Q	NEB_ENST00000427231.2_Missense_Mutation_p.K244Q|NEB_ENST00000604864.1_Missense_Mutation_p.K244Q|NEB_ENST00000603639.1_Missense_Mutation_p.K244Q|NEB_ENST00000409198.1_Missense_Mutation_p.K244Q|NEB_ENST00000397345.3_Missense_Mutation_p.K244Q			P20929	NEBU_HUMAN	nebulin	244					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCGAGACCTTTTTTGTAGGCA	0.353																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(730-732)Aaa>Caa		nebulin							121.0	107.0	112.0					2																	152574022		1863	4100	5963	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152574022T>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.730A>C	2.37:g.152574022T>G	ENSP00000172853:p.Lys244Gln					NEB_ENST00000603639.1_Missense_Mutation_p.K244Q|NEB_ENST00000604864.1_Missense_Mutation_p.K244Q|NEB_ENST00000409198.1_Missense_Mutation_p.K244Q|NEB_ENST00000172853.10_Missense_Mutation_p.K244Q|NEB_ENST00000427231.2_Missense_Mutation_p.K244Q	p.K244Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	10	932	-			244					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.730A>C		.	.	.	.	.	.	.	.	.	.	T	19.16	3.774297	0.69992	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.08102	3.13;3.13;3.15;3.13	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06499	-1.0823	10	0.06494	T	0.89	.	15.0485	0.71846	0.0:0.0:0.0:1.0	.	244	P20929	NEBU_HUMAN	Q	244	ENSP00000386259:K244Q;ENSP00000380505:K244Q;ENSP00000416578:K244Q;ENSP00000172853:K244Q	ENSP00000172853:K244Q	K	-	1	0	NEB	152282268	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.954000	0.76001	2.209000	0.71365	0.533000	0.62120	AAA		0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		6	29	0	0	0	1	0	6	29				
WDR41	55255	broad.mit.edu	37	5	76729109	76729109	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76729109A>G	ENST00000296679.4	-	13	1606	c.1231T>C	c.(1231-1233)Ttt>Ctt	p.F411L	WDR41_ENST00000512033.1_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.F356L|WDR41_ENST00000414719.2_Missense_Mutation_p.F157L	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	411						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AAGTATAGAAACATCTGTAAA	0.388																																						ENST00000296679.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(1231-1233)Ttt>Ctt		WD repeat domain 41							52.0	54.0	53.0					5																	76729109		2203	4300	6503	SO:0001583	missense	55255							g.chr5:76729109A>G	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.1231T>C	5.37:g.76729109A>G	ENSP00000296679:p.Phe411Leu					WDR41_ENST00000414719.2_Missense_Mutation_p.F157L|WDR41_ENST00000507029.1_Missense_Mutation_p.F356L|WDR41_ENST00000512033.1_5'UTR	p.F411L	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	13	1606	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	411					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.1231T>C	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.664847	0.29604	.	.	ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.96	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	N	0.17082	0.46	0.80722	D	1	P;P;P	0.47762	0.9;0.9;0.885	P;P;P	0.49799	0.622;0.622;0.484	T	0.45600	-0.9250	10	0.32370	T	0.25	-20.1683	13.4817	0.61338	0.8697:0.1303:0.0:0.0	.	356;157;411	B4DT55;B4E2L4;Q9HAD4	.;.;WDR41_HUMAN	L	411;157;346;356	ENSP00000296679:F411L;ENSP00000392931:F157L;ENSP00000426499:F346L;ENSP00000424287:F356L	ENSP00000296679:F411L	F	-	1	0	WDR41	76764865	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.762000	0.74950	1.043000	0.40175	0.477000	0.44152	TTT		0.388	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		4	22	0	0	0	1	0	4	22				
RNF145	153830	broad.mit.edu	37	5	158603743	158603743	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:158603743T>G	ENST00000424310.2	-	5	877	c.518A>C	c.(517-519)aAa>aCa	p.K173T	RNF145_ENST00000274542.2_Missense_Mutation_p.K201T|RNF145_ENST00000519865.1_Missense_Mutation_p.K173T|RNF145_ENST00000520638.1_Missense_Mutation_p.K187T|RNF145_ENST00000521606.2_Missense_Mutation_p.K190T|RNF145_ENST00000518802.1_Missense_Mutation_p.K203T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	173						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATAGCAAATTTATTGATGAT	0.373																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(517-519)aAa>aCa		ring finger protein 145							49.0	51.0	50.0					5																	158603743		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158603743T>G	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.518A>C	5.37:g.158603743T>G	ENSP00000409064:p.Lys173Thr					RNF145_ENST00000519865.1_Missense_Mutation_p.K173T|RNF145_ENST00000518802.1_Missense_Mutation_p.K203T|RNF145_ENST00000520638.1_Missense_Mutation_p.K187T|RNF145_ENST00000521606.2_Missense_Mutation_p.K190T|RNF145_ENST00000274542.2_Missense_Mutation_p.K201T	p.K173T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	877	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	173					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.518A>C	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	9.639	1.138431	0.21123	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77098	-1.07;-1.05;-1.05;-1.06;-1.06;-1.07;-1.06	5.46	5.46	0.80206	.	0.046550	0.85682	D	0.000000	T	0.48021	0.1477	N	0.00926	-1.1	0.49213	D	0.99976	B;B;B;B;B;B	0.14438	0.01;0.01;0.01;0.01;0.006;0.008	B;B;B;B;B;B	0.11329	0.006;0.006;0.006;0.006;0.004;0.004	T	0.56498	-0.7969	10	0.02654	T	1	-13.5539	15.8333	0.78778	0.0:0.0:0.0:1.0	.	189;190;187;203;173;201	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	T	201;173;173;189;190;203;173;187	ENSP00000274542:K201T;ENSP00000430397:K173T;ENSP00000409064:K173T;ENSP00000430753:K189T;ENSP00000445115:K190T;ENSP00000430955:K203T;ENSP00000429071:K187T	ENSP00000274542:K201T	K	-	2	0	RNF145	158536321	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.752000	0.55172	2.200000	0.70718	0.377000	0.23210	AAA		0.373	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		16	23	0	0	0	1	0	16	23				
NACA	4666	broad.mit.edu	37	12	57114403	57114403	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57114403G>T	ENST00000454682.1	-	3	1192	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	304	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGCCCAGAGAAATGGGAAA	0.483			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(910-912)tCt>tAt		nascent polypeptide-associated complex alpha subunit							57.0	55.0	55.0					12																	57114403		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114403G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.911C>A	12.37:g.57114403G>T	ENSP00000403817:p.Ser304Tyr					NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	p.S304Y	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	1192	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.911C>A		.	.	.	.	.	.	.	.	.	.	g	10.65	1.410132	0.25465	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.61158	0.13;0.46	3.97	3.06	0.35304	.	.	.	.	.	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.004	T	0.31503	-0.9941	9	0.87932	D	0	.	9.2912	0.37789	0.0:0.0:0.7871:0.2128	.	304;304	E9PAV3;F8VU71	.;.	Y	304	ENSP00000403817:S304Y;ENSP00000448035:S304Y	ENSP00000403817:S304Y	S	-	2	0	NACA	55400670	0.068000	0.21057	0.168000	0.22838	0.050000	0.14768	1.158000	0.31737	0.667000	0.31107	-1.344000	0.01245	TCT		0.483	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		25	33	1	0	9.57634e-11	1	1.18295e-10	25	33				
SYNE1	23345	broad.mit.edu	37	6	152673366	152673366	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152673366A>G	ENST00000367255.5	-	70	11977	c.11376T>C	c.(11374-11376)gaT>gaC	p.D3792D	SYNE1_ENST00000265368.4_Silent_p.D3792D|SYNE1_ENST00000448038.1_Silent_p.D3777D|SYNE1_ENST00000341594.5_Silent_p.D3763D|SYNE1_ENST00000423061.1_Silent_p.D3777D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3792					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCCATGTGATCATGAATCT	0.458										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11374-11376)gaT>gaC		spectrin repeat containing, nuclear envelope 1							237.0	214.0	222.0					6																	152673366		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152673366A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11376T>C	6.37:g.152673366A>G		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Silent_p.D3777D|SYNE1_ENST00000265368.4_Silent_p.D3792D|SYNE1_ENST00000341594.5_Silent_p.D3763D|SYNE1_ENST00000448038.1_Silent_p.D3777D	p.D3792D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	70	11977	-		Ovarian(120;0.0955)	3792					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.11376T>C	CCDS5236.2																																																																																				0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		31	62	0	0	0	1	0	31	62				
CAST	831	broad.mit.edu	37	5	96071887	96071887	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96071887G>T	ENST00000341926.3	+	8	555	c.393G>T	c.(391-393)aaG>aaT	p.K131N	CAST_ENST00000508830.1_Missense_Mutation_p.K214N|CAST_ENST00000395813.1_Missense_Mutation_p.K214N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000359176.4_Missense_Mutation_p.K195N|CAST_ENST00000511782.1_Missense_Mutation_p.K117N|CAST_ENST00000504465.1_Intron|CAST_ENST00000509903.1_Missense_Mutation_p.K109N|CAST_ENST00000511049.1_Missense_Mutation_p.K117N|CAST_ENST00000508608.1_Missense_Mutation_p.K177N|CAST_ENST00000395812.2_Missense_Mutation_p.K173N|CAST_ENST00000338252.3_Missense_Mutation_p.K131N|CAST_ENST00000510756.1_Missense_Mutation_p.K192N|CAST_ENST00000325674.7_Missense_Mutation_p.K192N|CAST_ENST00000309190.5_Missense_Mutation_p.K109N			P20810	ICAL_HUMAN	calpastatin	131					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AAAAAGAAAAGAAATCATTAA	0.318																																						ENST00000395813.1																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(640-642)aaG>aaT		calpastatin							57.0	55.0	56.0					5																	96071887		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96071887G>T	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.393G>T	5.37:g.96071887G>T	ENSP00000339914:p.Lys131Asn					CAST_ENST00000395812.2_Missense_Mutation_p.K173N|CAST_ENST00000511049.1_Missense_Mutation_p.K117N|CAST_ENST00000509903.1_Missense_Mutation_p.K109N|CAST_ENST00000510756.1_Missense_Mutation_p.K192N|CAST_ENST00000325674.7_Missense_Mutation_p.K192N|CAST_ENST00000309190.5_Missense_Mutation_p.K109N|CAST_ENST00000359176.4_Missense_Mutation_p.K195N|CAST_ENST00000508830.1_Missense_Mutation_p.K214N|CAST_ENST00000508608.1_Missense_Mutation_p.K177N|CAST_ENST00000504465.1_Intron|CAST_ENST00000511782.1_Missense_Mutation_p.K117N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.K131N|CAST_ENST00000338252.3_Missense_Mutation_p.K131N	p.K214N			P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	10	828	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	131					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.642G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.24|11.24	1.580700|1.580700	0.28180|0.28180	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000505143;ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000421689;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000509903;ENST00000511782;ENST00000508197|ENST00000512620	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.17691|.	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26|.	5.34|5.34	-0.221|-0.221	0.13126|0.13126	.|.	1.075060|.	0.07154|.	N|.	0.849540|.	T|T	0.35799|0.35799	0.0944|0.0944	L|L	0.43152|0.43152	1.355|1.355	0.22648|0.22648	N|N	0.998898|0.998898	B;B;B;B;B;B;B;B;B;B;B;B|.	0.15141|.	0.003;0.0;0.002;0.0;0.0;0.005;0.0;0.012;0.001;0.0;0.007;0.001|.	B;B;B;B;B;B;B;B;B;B;B;B|.	0.16289|.	0.005;0.001;0.015;0.002;0.001;0.015;0.001;0.009;0.003;0.001;0.013;0.003|.	T|T	0.31888|0.31888	-0.9927|-0.9927	10|5	0.37606|.	T|.	0.19|.	0.1629|0.1629	7.4737|7.4737	0.27363|0.27363	0.17:0.0:0.6262:0.2038|0.17:0.0:0.6262:0.2038	.|.	109;177;109;109;90;131;192;173;195;192;214;131|.	B7Z5T6;B7Z468;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	N|I	209;131;214;192;214;195;192;173;195;192;177;131;117;109;131;109;117;82|148	ENSP00000422957:K209N;ENSP00000343421:K131N;ENSP00000425721:K214N;ENSP00000422951:K192N;ENSP00000379158:K214N;ENSP00000352098:K195N;ENSP00000320319:K192N;ENSP00000379157:K173N;ENSP00000396558:K195N;ENSP00000422176:K192N;ENSP00000422677:K177N;ENSP00000339914:K131N;ENSP00000421130:K117N;ENSP00000312523:K109N;ENSP00000422325:K131N;ENSP00000426946:K109N;ENSP00000423638:K117N;ENSP00000422831:K82N|.	ENSP00000312523:K109N|.	K|R	+|+	3|2	2|0	CAST|CAST	96097643|96097643	0.949000|0.949000	0.32298|0.32298	0.771000|0.771000	0.31576|0.31576	0.951000|0.951000	0.60555|0.60555	-0.019000|-0.019000	0.12546|0.12546	-0.019000|-0.019000	0.14055|0.14055	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.318	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		7	17	1	0	0.000157383	1	0.000169016	7	17				
MAN2A1	4124	broad.mit.edu	37	5	109124646	109124646	+	Missense_Mutation	SNP	C	C	T	rs370085257		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:109124646C>T	ENST00000261483.4	+	11	2824	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	591					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTTTTTCATTCGTTAATGGTT	0.313																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1771-1773)tCg>tTg		mannosidase, alpha, class 2A, member 1		C	LEU/SER	1,4403		0,1,2201	75.0	77.0	76.0		1772	5.7	0.7	5		76	0,8588		0,0,4294	no	missense	MAN2A1	NM_002372.2	145	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	591/1145	109124646	1,12991	2202	4294	6496	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109124646C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1772C>T	5.37:g.109124646C>T	ENSP00000261483:p.Ser591Leu						p.S591L	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	11	2824	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	591					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.1772C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416357	0.83449	2.27E-4	0.0	ENSG00000112893	ENST00000261483	T	0.74737	-0.87	5.72	5.72	0.89469	.	0.141721	0.49305	D	0.000142	D	0.83142	0.5190	M	0.73962	2.25	0.80722	D	1	D	0.58268	0.982	P	0.53035	0.716	D	0.84765	0.0764	10	0.72032	D	0.01	-10.5448	19.8929	0.96937	0.0:1.0:0.0:0.0	.	591	Q16706	MA2A1_HUMAN	L	591	ENSP00000261483:S591L	ENSP00000261483:S591L	S	+	2	0	MAN2A1	109152545	1.000000	0.71417	0.691000	0.30163	0.488000	0.33401	7.109000	0.77062	2.702000	0.92279	0.462000	0.41574	TCG		0.313	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			10	18	0	0	0	1	0	10	18				
CCDC93	54520	broad.mit.edu	37	2	118731517	118731517	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118731517C>A	ENST00000376300.2	-	11	992	c.855G>T	c.(853-855)gaG>gaT	p.E285D	CCDC93_ENST00000319432.5_Missense_Mutation_p.E284D|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	285										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCTGCTTGATCTCAGCAGAGC	0.552																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(853-855)gaG>gaT		coiled-coil domain containing 93							60.0	54.0	56.0					2																	118731517		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118731517C>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.855G>T	2.37:g.118731517C>A	ENSP00000365477:p.Glu285Asp					CCDC93_ENST00000319432.5_Missense_Mutation_p.E284D|CCDC93_ENST00000460781.1_5'UTR	p.E285D	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			11	992	-			285					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.855G>T	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963988	0.74131	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.22134	1.99;1.97	5.16	4.29	0.51040	.	0.049197	0.85682	D	0.000000	T	0.27900	0.0687	M	0.68593	2.085	0.46798	D	0.999209	B	0.28291	0.206	B	0.35971	0.215	T	0.07009	-1.0795	10	0.49607	T	0.09	-15.9561	12.0765	0.53647	0.0:0.9209:0.0:0.0791	.	285	Q567U6	CCD93_HUMAN	D	285;284	ENSP00000365477:E285D;ENSP00000324135:E284D	ENSP00000324135:E284D	E	-	3	2	CCDC93	118447987	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	1.634000	0.37123	1.402000	0.46780	-0.136000	0.14681	GAG		0.552	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		8	11	1	0	2.17888e-05	1	2.39107e-05	8	11				
FER1L6	654463	broad.mit.edu	37	8	125131132	125131132	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125131132G>T	ENST00000522917.1	+	40	5543	c.5337G>T	c.(5335-5337)gaG>gaT	p.E1779D	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1779D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1779						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGAAGCTGAGAAAAATCCTG	0.498																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(5335-5337)gaG>gaT		fer-1-like 6 (C. elegans)							62.0	62.0	62.0					8																	125131132		1850	4105	5955	SO:0001583	missense	654463					integral to membrane		g.chr8:125131132G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5337G>T	8.37:g.125131132G>T	ENSP00000428280:p.Glu1779Asp					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1779D	p.E1779D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		40	5543	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1779						Missense_Mutation	SNP	ENST00000522917.1	37	c.5337G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497160	0.64186	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83163	-1.69;-1.69	5.69	4.63	0.57726	.	0.000000	0.85682	U	0.000000	T	0.76608	0.4011	L	0.48260	1.515	0.54753	D	0.999988	P	0.45768	0.866	B	0.40825	0.341	T	0.74748	-0.3560	10	0.29301	T	0.29	-23.983	11.9823	0.53127	0.1475:0.0:0.8525:0.0	.	1779	Q2WGJ9	FR1L6_HUMAN	D	1779	ENSP00000428280:E1779D;ENSP00000381982:E1779D	ENSP00000381982:E1779D	E	+	3	2	FER1L6	125200313	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.713000	0.74686	2.683000	0.91414	0.563000	0.77884	GAG		0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		11	31	1	0	6.40141e-05	1	6.95424e-05	11	31				
ZNF460	10794	broad.mit.edu	37	19	57802428	57802428	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57802428C>T	ENST00000360338.3	+	3	841	c.519C>T	c.(517-519)ttC>ttT	p.F173F	ZNF460_ENST00000537645.1_Silent_p.F132F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTATAAATTCGAGGAAATGT	0.428																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(517-519)ttC>ttT		zinc finger protein 460							102.0	103.0	103.0					19																	57802428		2203	4300	6503	SO:0001819	synonymous_variant	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802428C>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.519C>T	19.37:g.57802428C>T						ZNF460_ENST00000537645.1_Silent_p.F132F	p.F173F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	841	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	173					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	c.519C>T	CCDS12949.1																																																																																				0.428	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		32	64	0	0	0	1	0	32	64				
BDNF	627	broad.mit.edu	37	11	27680092	27680092	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:27680092G>A	ENST00000525528.1	-	1	1113	c.20C>T	c.(19-21)aCt>aTt	p.T7I	BDNF_ENST00000525950.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.T7I|BDNF_ENST00000395978.3_Missense_Mutation_p.T7I|BDNF_ENST00000533131.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.T7I|BDNF_ENST00000438929.1_Missense_Mutation_p.T89I|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.T7I|BDNF_ENST00000439476.2_Missense_Mutation_p.T7I|BDNF_ENST00000395981.3_Missense_Mutation_p.T7I|BDNF_ENST00000356660.4_Missense_Mutation_p.T7I|BDNF_ENST00000395986.2_Missense_Mutation_p.T22I|BDNF_ENST00000532997.1_Missense_Mutation_p.T7I|BDNF_ENST00000530861.1_Missense_Mutation_p.T7I|BDNF_ENST00000420794.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.T7I|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.T15I	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	7					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						AATAACCATAGTAAGGAAAAG	0.488																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(19-21)aCt>aTt		brain-derived neurotrophic factor							85.0	94.0	91.0					11																	27680092		2202	4299	6501	SO:0001583	missense	627					extracellular region	growth factor activity	g.chr11:27680092G>A	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.20C>T	11.37:g.27680092G>A	ENSP00000437138:p.Thr7Ile					BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.T7I|BDNF_ENST00000439476.2_Missense_Mutation_p.T7I|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.T7I|BDNF_ENST00000395981.3_Missense_Mutation_p.T7I|BDNF_ENST00000533131.1_Missense_Mutation_p.T7I|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000532997.1_Missense_Mutation_p.T7I|BDNF_ENST00000395980.2_Missense_Mutation_p.T7I|BDNF_ENST00000525950.1_Missense_Mutation_p.T7I|BDNF_ENST00000530861.1_Missense_Mutation_p.T7I|BDNF_ENST00000314915.6_Missense_Mutation_p.T15I|BDNF_ENST00000395986.2_Missense_Mutation_p.T22I|BDNF_ENST00000418212.1_Missense_Mutation_p.T7I|BDNF_ENST00000395978.3_Missense_Mutation_p.T7I|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.T7I|BDNF_ENST00000420794.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.T89I	p.T7I	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN			1	1113	-			7					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	c.20C>T	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035487	0.54896	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	0.987;1.0;0.999;0.998;0.999	P;D;D;D;D	0.87578	0.854;0.998;0.991;0.981;0.991	T	0.45527	-0.9255	10	0.87932	D	0	-13.6392	20.8794	0.99867	0.0:0.0:1.0:0.0	.	36;89;15;7;22	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	I	7;7;22;7;7;7;7;7;7;89;7;7;7;7;7;15;7;7	ENSP00000389345:T7I;ENSP00000437138:T7I;ENSP00000379309:T22I;ENSP00000432727:T7I;ENSP00000349084:T7I;ENSP00000400502:T7I;ENSP00000432376:T7I;ENSP00000435564:T7I;ENSP00000379307:T7I;ENSP00000414303:T89I;ENSP00000379304:T7I;ENSP00000435805:T7I;ENSP00000379305:T7I;ENSP00000379302:T7I;ENSP00000432035:T7I;ENSP00000320002:T15I;ENSP00000389564:T7I	ENSP00000320002:T15I	T	-	2	0	BDNF	27636668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACT		0.488	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		43	81	0	0	0	1	0	43	81				
CHORDC1	26973	broad.mit.edu	37	11	89944398	89944398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:89944398C>A	ENST00000320585.6	-	5	827	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	CHORDC1_ENST00000529987.1_5'Flank|CHORDC1_ENST00000529726.1_5'Flank|CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.E121*	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	140	Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)	p.E140*(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTATTTTCTTCATTCCCTGAT	0.303																																						ENST00000320585.6																			1	Substitution - Nonsense(1)	p.E140*(1)	large_intestine(1)	endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11						c.(418-420)Gaa>Taa		cysteine and histidine-rich domain (CHORD) containing 1							94.0	101.0	98.0					11																	89944398		2200	4291	6491	SO:0001587	stop_gained	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89944398C>A	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.418G>T	11.37:g.89944398C>A	ENSP00000319255:p.Glu140*					CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.E121*	p.E140*	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN			5	827	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	140			Interaction with HSP90AA1 and HSP90AB1 (By similarity).		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Nonsense_Mutation	SNP	ENST00000320585.6	37	c.418G>T	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	C	41	8.824005	0.98968	.	.	ENSG00000110172	ENST00000320585;ENST00000457199	.	.	.	5.77	5.77	0.91146	.	0.314188	0.38897	N	0.001534	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1524	20.0519	0.97629	0.0:1.0:0.0:0.0	.	.	.	.	X	140;121	.	.	E	-	1	0	CHORDC1	89584046	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.618000	0.54188	2.746000	0.94184	0.580000	0.79431	GAA		0.303	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		22	43	1	0	1.10923e-09	1	1.34134e-09	22	43				
CCT4	10575	broad.mit.edu	37	2	62112207	62112207	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:62112207G>A	ENST00000394440.3	-	2	424	c.128C>T	c.(127-129)gCg>gTg	p.A43V	CCT4_ENST00000538252.1_5'UTR|CCT4_ENST00000544185.1_5'UTR|CCT4_ENST00000544079.1_Splice_Site_p.A43V|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	43					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATCAGCAACCGCTGCAGATGG	0.393																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.e2-1		chaperonin containing TCP1, subunit 4 (delta)							123.0	105.0	111.0					2																	62112207		2203	4300	6503	SO:0001630	splice_region_variant	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62112207G>A		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.128-1C>T	2.37:g.62112207G>A						AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Splice_Site_p.A43_splice|CCT4_ENST00000544185.1_5'UTR|CCT4_ENST00000538252.1_5'UTR	p.A43_splice	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		2	424	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		43					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Splice_Site	SNP	ENST00000394440.3	37	c.127_splice	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641525	0.87859	.	.	ENSG00000115484	ENST00000394440;ENST00000544079	T;T	0.12255	2.7;2.7	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.936	T	0.01858	-1.1259	10	0.49607	T	0.09	.	17.451	0.87592	0.0:0.0:1.0:0.0	.	43;43	F5H5W3;P50991	.;TCPD_HUMAN	V	43	ENSP00000377958:A43V;ENSP00000443061:A43V	ENSP00000377958:A43V	A	-	2	0	CCT4	61965711	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	9.608000	0.98331	2.241000	0.73720	0.655000	0.94253	GCG		0.393	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2		Missense_Mutation	6	37	0	0	0	1	0	6	37				
RIC1	57589	broad.mit.edu	37	9	5757341	5757341	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5757341C>A	ENST00000414202.2	+	17	2073	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	KIAA1432_ENST00000449720.2_Missense_Mutation_p.L512I|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L628I|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L549I|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L549I	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TATTCAAGTTCTTCAGGAGGT	0.388																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1882-1884)Ctt>Att		KIAA1432							315.0	291.0	299.0					9																	5757341		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5757341C>A																												ENST00000414202.2:c.1882C>A	9.37:g.5757341C>A	ENSP00000416696:p.Leu628Ile					KIAA1432_ENST00000449720.2_Missense_Mutation_p.L512I|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L549I|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L549I|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L628I	p.L628I	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	17	2073	+		Acute lymphoblastic leukemia(23;0.154)	628						Missense_Mutation	SNP	ENST00000414202.2	37	c.1882C>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.63|14.63	2.592783|2.592783	0.46214|0.46214	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.060776|.	0.64402|.	D|.	0.000005|.	T|T	0.64571|0.64571	0.2610|0.2610	L|L	0.54323|0.54323	1.7|1.7	0.44825|0.44825	D|D	0.997836|0.997836	P;P;P;P|.	0.49635|.	0.908;0.639;0.926;0.753|.	B;B;B;B|.	0.42738|.	0.32;0.122;0.396;0.241|.	T|T	0.60250|0.60250	-0.7300|-0.7300	9|5	0.39692|.	T|.	0.17|.	-18.5017|-18.5017	13.8057|13.8057	0.63230|0.63230	0.0:0.9305:0.0:0.0695|0.0:0.9305:0.0:0.0695	.|.	512;549;628;628|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	I|Y	628;628;549;549;512|519	.|.	ENSP00000251879:L628I|.	L|S	+|+	1|2	0|0	KIAA1432|KIAA1432	5747341|5747341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.057000|3.057000	0.49931|0.49931	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.388	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			48	111	1	0	6.3008e-33	1	9.03351e-33	48	111				
DCHS2	54798	broad.mit.edu	37	4	155156193	155156193	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155156193G>T	ENST00000357232.4	-	25	8245	c.8246C>A	c.(8245-8247)tCt>tAt	p.S2749Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2749					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAAAGACAGACTCTTTTCT	0.443																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(8245-8247)tCt>tAt		dachsous cadherin-related 2							80.0	69.0	73.0					4																	155156193		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156193G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8246C>A	4.37:g.155156193G>T	ENSP00000349768:p.Ser2749Tyr						p.S2749Y	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8245	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2749					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.8246C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	7.119	0.577615	0.13686	.	.	ENSG00000197410	ENST00000357232	T	0.52057	0.68	5.53	1.52	0.23074	.	1.019890	0.07799	N	0.956175	T	0.19046	0.0457	N	0.02539	-0.55	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.19192	-1.0313	10	0.27785	T	0.31	.	1.5802	0.02633	0.19:0.0953:0.2956:0.4191	.	2749	Q6V1P9	PCD23_HUMAN	Y	2749	ENSP00000349768:S2749Y	ENSP00000349768:S2749Y	S	-	2	0	DCHS2	155375643	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.994000	0.29693	0.263000	0.21812	-0.262000	0.10625	TCT		0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		18	30	1	0	1.99824e-07	1	2.29918e-07	18	30				
AVIL	10677	broad.mit.edu	37	12	58209764	58209764	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58209764T>G	ENST00000257861.3	-	1	490	c.60A>C	c.(58-60)agA>agC	p.R20S	RP11-571M6.18_ENST00000602327.1_lincRNA|AVIL_ENST00000537081.1_5'Flank	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	20	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCACCTCTATTCTCCAGACAA	0.572																																						ENST00000257861.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(58-60)agA>agC		advillin							123.0	90.0	101.0					12																	58209764		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58209764T>G	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.60A>C	12.37:g.58209764T>G	ENSP00000257861:p.Arg20Ser						p.R20S	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN			1	490	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		20			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.60A>C	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183736	0.57800	.	.	ENSG00000135407	ENST00000257861;ENST00000549994	T;T	0.20598	2.06;2.06	4.98	-1.35	0.09114	.	0.046101	0.85682	D	0.000000	T	0.44030	0.1274	M	0.88775	2.98	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	T	0.43393	-0.9394	10	0.45353	T	0.12	-21.1484	11.0084	0.47649	0.0:0.5318:0.0:0.4682	.	20	O75366	AVIL_HUMAN	S	20	ENSP00000257861:R20S;ENSP00000449239:R20S	ENSP00000257861:R20S	R	-	3	2	AVIL	56496031	0.982000	0.34865	0.989000	0.46669	0.990000	0.78478	0.009000	0.13219	-0.411000	0.07530	0.533000	0.62120	AGA		0.572	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		16	35	0	0	0	1	0	16	35				
PLCXD3	345557	broad.mit.edu	37	5	41382489	41382489	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41382489A>C	ENST00000377801.3	-	2	325	c.251T>G	c.(250-252)tTt>tGt	p.F84C	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F84C			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	84	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGGCCAGTAAAATTCATTGT	0.453																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(250-252)tTt>tGt		phosphatidylinositol-specific phospholipase C, X domain containing 3							58.0	63.0	62.0					5																	41382489		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382489A>C		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.251T>G	5.37:g.41382489A>C	ENSP00000367032:p.Phe84Cys					PLCXD3_ENST00000328457.3_Missense_Mutation_p.F84C	p.F84C			Q63HM9	PLCX3_HUMAN			2	325	-			84			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.251T>G	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982546	0.74474	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.63744	-0.06;-0.06	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	D	0.000000	T	0.80325	0.4602	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.81143	-0.1067	10	0.48119	T	0.1	-4.3232	16.6406	0.85098	1.0:0.0:0.0:0.0	.	84	Q63HM9	PLCX3_HUMAN	C	84	ENSP00000367032:F84C;ENSP00000333751:F84C	ENSP00000333751:F84C	F	-	2	0	PLCXD3	41418246	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	8.923000	0.92808	2.326000	0.78906	0.533000	0.62120	TTT		0.453	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		20	31	0	0	0	1	0	20	31				
LRRIQ1	84125	broad.mit.edu	37	12	85450583	85450583	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85450583G>T	ENST00000393217.2	+	8	2073	c.2012G>T	c.(2011-2013)aGa>aTa	p.R671I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	671										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGGCAAAAGAAATGACCAA	0.363																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2011-2013)aGa>aTa		leucine-rich repeats and IQ motif containing 1							77.0	78.0	78.0					12																	85450583		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85450583G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2012G>T	12.37:g.85450583G>T	ENSP00000376910:p.Arg671Ile						p.R671I	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2073	+			671					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2012G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580425	0.13686	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.46819	0.86	5.16	-0.951	0.10369	.	1.357720	0.05087	N	0.484650	T	0.31358	0.0794	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17745	-1.0359	10	0.29301	T	0.29	.	6.0407	0.19732	0.0:0.3101:0.1475:0.5424	.	671;646	Q96JM4;C9JI57	LRIQ1_HUMAN;.	I	671;646;671	ENSP00000376910:R671I	ENSP00000256007:R671I	R	+	2	0	LRRIQ1	83974714	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.169000	0.09911	-0.111000	0.12001	0.591000	0.81541	AGA		0.363	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		14	32	1	0	4.36969e-10	1	5.32873e-10	14	32				
ABCC4	10257	broad.mit.edu	37	13	95847160	95847160	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95847160C>T	ENST00000376887.4	-	9	1307	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	ABCC4_ENST00000536256.1_Missense_Mutation_p.R323H|ABCC4_ENST00000431522.1_Missense_Mutation_p.R398H|ABCC4_ENST00000412704.1_Missense_Mutation_p.R398H|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	398					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CTGACGGTTGCGCTGTGATAT	0.378																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1192-1194)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						105.0	93.0	97.0					13																	95847160		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95847160C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1193G>A	13.37:g.95847160C>T	ENSP00000366084:p.Arg398His					ABCC4_ENST00000412704.1_Missense_Mutation_p.R398H|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R323H|ABCC4_ENST00000431522.1_Missense_Mutation_p.R398H	p.R398H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			9	1307	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		398					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1193G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	5.967	0.362443	0.11296	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.91124	-2.73;-2.7;-2.79;-2.73	4.98	-4.68	0.03309	ABC transporter, transmembrane domain, type 1 (1);	1.392330	0.03947	N	0.287812	T	0.78534	0.4298	N	0.17838	0.53	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.002;0.002	B;B;B;B;B	0.08055	0.0;0.002;0.003;0.002;0.001	T	0.62789	-0.6780	10	0.25751	T	0.34	.	0.3889	0.00407	0.2269:0.2494:0.1747:0.349	.	323;398;398;398;398	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	H	398;398;323;398	ENSP00000388657:R398H;ENSP00000366084:R398H;ENSP00000442024:R323H;ENSP00000398562:R398H	ENSP00000366084:R398H	R	-	2	0	ABCC4	94645161	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-2.420000	0.01032	-0.917000	0.03813	0.462000	0.41574	CGC		0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		5	25	0	0	0	1	0	5	25				
ZNF644	84146	broad.mit.edu	37	1	91383672	91383672	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91383672C>T	ENST00000370440.1	-	5	3945	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E	ZNF644_ENST00000337393.5_Missense_Mutation_p.G1243E|ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000361321.5_Missense_Mutation_p.G21E|ZNF644_ENST00000347275.5_Missense_Mutation_p.G21E			Q9H582	ZN644_HUMAN	zinc finger protein 644	1243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1243A(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTCTTGCTTCCAGATCTTGA	0.358																																						ENST00000370440.1																			1	Substitution - Missense(1)	p.G1243A(1)	lung(1)	breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3727-3729)gGa>gAa		zinc finger protein 644							252.0	221.0	231.0					1																	91383672		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91383672C>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3728G>A	1.37:g.91383672C>T	ENSP00000359469:p.Gly1243Glu					ZNF644_ENST00000347275.5_Missense_Mutation_p.G21E|ZNF644_ENST00000361321.5_Missense_Mutation_p.G21E|ZNF644_ENST00000337393.5_Missense_Mutation_p.G1243E|ZNF644_ENST00000467231.1_5'UTR	p.G1243E			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	5	3945	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1243					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.3728G>A	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317517	0.81469	.	.	ENSG00000122482	ENST00000370440;ENST00000347275;ENST00000337393;ENST00000361321	T;T	0.01159	5.25;5.25	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.02304	0.0071	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.974	T	0.69416	-0.5151	10	0.87932	D	0	-16.5823	19.9785	0.97317	0.0:1.0:0.0:0.0	.	1243;21	Q9H582;Q9H582-3	ZN644_HUMAN;.	E	1243;21;1243;21	ENSP00000359469:G1243E;ENSP00000337008:G1243E	ENSP00000337008:G1243E	G	-	2	0	ZNF644	91156260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.011000	0.76359	2.724000	0.93272	0.650000	0.86243	GGA		0.358	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		16	16	0	0	0	1	0	16	16				
SETD4	54093	broad.mit.edu	37	21	37431146	37431146	+	Missense_Mutation	SNP	C	C	T	rs200964253		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:37431146C>T	ENST00000399215.1	-	1	1413	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	SETD4_ENST00000399208.2_Missense_Mutation_p.R14Q|SETD4_ENST00000332131.4_Missense_Mutation_p.R14Q|SETD4_ENST00000399207.1_Missense_Mutation_p.R14Q|SETD4_ENST00000399201.1_5'UTR|AP000688.11_ENST00000436303.1_RNA|SETD4_ENST00000399205.1_5'UTR|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	14							methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GCAGAGTTTTCGTCTTCTGAT	0.348													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18441	0.0		0.0	False		,,,				2504	0.0					ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(40-42)cGa>cAa		SET domain containing 4							211.0	216.0	215.0					21																	37431146		2203	4300	6503	SO:0001583	missense	54093							g.chr21:37431146C>T	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.41G>A	21.37:g.37431146C>T	ENSP00000382163:p.Arg14Gln					SETD4_ENST00000399207.1_Missense_Mutation_p.R14Q|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.R14Q|SETD4_ENST00000399212.1_5'UTR|SETD4_ENST00000399208.2_Missense_Mutation_p.R14Q|SETD4_ENST00000399201.1_5'UTR|SETD4_ENST00000399205.1_5'UTR	p.R14Q			Q9NVD3	SETD4_HUMAN			1	1413	-			14					B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	c.41G>A	CCDS13640.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.64	3.439950	0.63067	.	.	ENSG00000185917	ENST00000399215;ENST00000332131;ENST00000399208;ENST00000399207;ENST00000424303;ENST00000429161;ENST00000443703	T;T;T;T	0.25912	2.05;2.05;1.77;1.77	5.42	4.53	0.55603	.	0.119054	0.52532	N	0.000064	T	0.29620	0.0739	L	0.56769	1.78	0.45076	D	0.998098	D;P	0.54207	0.965;0.89	P;B	0.46718	0.525;0.186	T	0.03443	-1.1036	10	0.35671	T	0.21	-10.7167	10.3206	0.43764	0.0:0.9085:0.0:0.0915	.	14;14	C9JWV5;Q9NVD3	.;SETD4_HUMAN	Q	14	ENSP00000382163:R14Q;ENSP00000329189:R14Q;ENSP00000382159:R14Q;ENSP00000382158:R14Q	ENSP00000329189:R14Q	R	-	2	0	SETD4	36353016	0.309000	0.24518	0.630000	0.29268	0.438000	0.31896	0.427000	0.21379	1.411000	0.46957	0.650000	0.86243	CGA		0.348	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		31	74	0	0	0	1	0	31	74				
HIGD2A	192286	broad.mit.edu	37	5	175815966	175815966	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175815966T>C	ENST00000274787.2	+	1	219	c.146T>C	c.(145-147)gTa>gCa	p.V49A	NOP16_ENST00000509257.1_5'Flank|NOP16_ENST00000389158.5_5'UTR|NOP16_ENST00000510123.1_5'Flank|NOP16_ENST00000507413.1_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	49	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		AACCCGGTGGTACCCATAGGT	0.562																																						ENST00000274787.2																			0				large_intestine(1)	1						c.(145-147)gTa>gCa		HIG1 hypoxia inducible domain family, member 2A							60.0	67.0	65.0					5																	175815966		2203	4299	6502	SO:0001583	missense	192286					integral to membrane		g.chr5:175815966T>C	BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"""HIG1 domain family, member 2A"""			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.146T>C	5.37:g.175815966T>C	ENSP00000274787:p.Val49Ala					NOP16_ENST00000389158.5_5'UTR	p.V49A	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)	1	219	+	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	49			HIG1.			Missense_Mutation	SNP	ENST00000274787.2	37	c.146T>C	CCDS4401.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941597	0.92526	.	.	ENSG00000146066	ENST00000274787	.	.	.	5.37	5.37	0.77165	Hypoxia induced protein, domain (2);	0.107597	0.64402	D	0.000006	T	0.80904	0.4713	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84221	0.0461	9	0.87932	D	0	-30.0811	14.4867	0.67622	0.0:0.0:0.0:1.0	.	49	Q9BW72	HIG2A_HUMAN	A	49	.	ENSP00000274787:V49A	V	+	2	0	HIGD2A	175748572	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	7.188000	0.77739	2.254000	0.74563	0.533000	0.62120	GTA		0.562	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253147.1	NM_138820		26	58	0	0	0	1	0	26	58				
ARHGEF6	9459	broad.mit.edu	37	X	135764991	135764991	+	Missense_Mutation	SNP	G	G	A	rs147323188		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135764991G>A	ENST00000250617.6	-	13	2610	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R315W|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R342W|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R315W	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	469	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATAAGGTACCGCTCCTCTTTT	0.343																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1405-1407)Cgg>Tgg		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6		G	TRP/ARG	1,3834		0,1,1631,571	93.0	81.0	85.0		1405	4.4	1.0	X	dbSNP_134	85	0,6728		0,0,2428,1872	no	missense	ARHGEF6	NM_004840.2	101	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	469/777	135764991	1,10562	2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135764991G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1405C>T	X.37:g.135764991G>A	ENSP00000250617:p.Arg469Trp					ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R342W|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R315W|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R315W	p.R469W	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			13	2610	-	Acute lymphoblastic leukemia(192;0.000127)		469			PH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1405C>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263263	0.59431	2.61E-4	0.0	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.4	4.45	0.53987	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83635	0.0147	10	0.87932	D	0	.	14.3171	0.66460	0.0:0.0:0.7823:0.2177	.	342;469	B7Z3C7;Q15052	.;ARHG6_HUMAN	W	469;315;315;315;342	ENSP00000250617:R469W;ENSP00000359654:R315W;ENSP00000359656:R315W;ENSP00000439483:R342W	ENSP00000250617:R469W	R	-	1	2	ARHGEF6	135592657	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.834000	0.48167	2.250000	0.74265	0.600000	0.82982	CGG		0.343	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		13	21	0	0	0	1	0	13	21				
SCN11A	11280	broad.mit.edu	37	3	38991631	38991631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38991631C>A	ENST00000302328.3	-	1	421	c.223G>T	c.(223-225)Gga>Tga	p.G75*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.G75*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.G75*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.G75*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	75					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGAGGCTTTCCTATGAGCTCA	0.562																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(223-225)Gga>Tga		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						99.0	100.0	100.0					3																	38991631		2203	4300	6503	SO:0001587	stop_gained	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38991631C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.223G>T	3.37:g.38991631C>A	ENSP00000307599:p.Gly75*					SCN11A_ENST00000444237.2_Nonsense_Mutation_p.G75*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.G75*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.G75*	p.G75*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	1	421	-			75					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Nonsense_Mutation	SNP	ENST00000302328.3	37	c.223G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	38	7.100857	0.98063	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	5.41	4.5	0.54988	.	0.227147	0.45361	D	0.000375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.8953	0.47019	0.3418:0.6582:0.0:0.0	.	.	.	.	X	75	.	ENSP00000307599:G75X	G	-	1	0	SCN11A	38966635	0.001000	0.12720	0.709000	0.30452	0.834000	0.47266	0.172000	0.16704	1.210000	0.43336	0.655000	0.94253	GGA		0.562	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		44	82	1	0	2.37825e-27	1	3.36934e-27	44	82				
VEPH1	79674	broad.mit.edu	37	3	157178088	157178088	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:157178088G>A	ENST00000362010.2	-	4	718	c.411C>T	c.(409-411)ctC>ctT	p.L137L	VEPH1_ENST00000392833.2_Silent_p.L137L|VEPH1_ENST00000392832.2_Silent_p.L137L|VEPH1_ENST00000537559.1_Silent_p.L137L|VEPH1_ENST00000543418.1_Silent_p.L137L|VEPH1_ENST00000468233.1_Silent_p.L137L|VEPH1_ENST00000494677.1_Silent_p.L137L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	137						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCCTCTGTGGAGGAATTTCA	0.443																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(409-411)ctC>ctT		ventricular zone expressed PH domain-containing 1							99.0	93.0	95.0					3																	157178088		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157178088G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.411C>T	3.37:g.157178088G>A						VEPH1_ENST00000543418.1_Silent_p.L137L|VEPH1_ENST00000537559.1_Silent_p.L137L|VEPH1_ENST00000468233.1_Silent_p.L137L|VEPH1_ENST00000494677.1_Silent_p.L137L|VEPH1_ENST00000392832.2_Silent_p.L137L|VEPH1_ENST00000392833.2_Silent_p.L137L	p.L137L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		4	718	-			137					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.411C>T	CCDS3179.1																																																																																				0.443	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		26	57	0	0	0	1	0	26	57				
TTC29	83894	broad.mit.edu	37	4	147830222	147830222	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:147830222T>G	ENST00000325106.4	-	5	582	c.356A>C	c.(355-357)tAc>tCc	p.Y119S	TTC29_ENST00000513335.1_Missense_Mutation_p.Y145S|TTC29_ENST00000398886.4_Missense_Mutation_p.Y145S	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	119										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATGGTACAGGTAATCCAGTTT	0.597																																						ENST00000513335.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(433-435)tAc>tCc		tetratricopeptide repeat domain 29							108.0	110.0	109.0					4																	147830222		1955	4144	6099	SO:0001583	missense	83894						binding	g.chr4:147830222T>G	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.356A>C	4.37:g.147830222T>G	ENSP00000316740:p.Tyr119Ser					TTC29_ENST00000325106.4_Missense_Mutation_p.Y119S|TTC29_ENST00000398886.4_Missense_Mutation_p.Y145S	p.Y145S			Q8NA56	TTC29_HUMAN			6	633	-	all_hematologic(180;0.151)		119					A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.434A>C	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367844	0.24771	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.03	2.48	0.30137	.	0.540033	0.19124	N	0.122120	T	0.08447	0.0210	N	0.14661	0.345	0.24765	N	0.992902	B;B;B	0.22983	0.078;0.002;0.078	B;B;B	0.18263	0.021;0.006;0.021	T	0.35251	-0.9796	10	0.22706	T	0.39	-1.6857	7.107	0.25368	0.1311:0.0722:0.0:0.7967	.	119;145;119	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	S	145;145;119;119;119	ENSP00000423505:Y145S;ENSP00000381861:Y145S;ENSP00000316740:Y119S;ENSP00000425778:Y119S	ENSP00000316740:Y119S	Y	-	2	0	TTC29	148049672	1.000000	0.71417	0.178000	0.23040	0.644000	0.38419	2.369000	0.44231	0.307000	0.22880	0.533000	0.62120	TAC		0.597	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		13	79	0	0	0	1	0	13	79				
ZPBP	11055	broad.mit.edu	37	7	50129291	50129291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50129291G>A	ENST00000046087.2	-	2	211	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	48					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTGGTAATCGAACCAAGTGT	0.284																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(142-144)Cga>Tga		zona pellucida binding protein							33.0	34.0	33.0					7																	50129291		2203	4298	6501	SO:0001587	stop_gained	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50129291G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.142C>T	7.37:g.50129291G>A	ENSP00000046087:p.Arg48*					ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			2	211	-	Glioma(55;0.08)|all_neural(89;0.245)		48					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Nonsense_Mutation	SNP	ENST00000046087.2	37	c.142C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259065	0.95368	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	.	.	.	5.49	4.6	0.57074	.	0.365143	0.20359	N	0.093885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6381	13.7355	0.62815	0.0:0.0:0.8368:0.1632	.	.	.	.	X	48;48;9	.	.	R	-	1	2	ZPBP	50099837	0.956000	0.32656	0.839000	0.33178	0.855000	0.48748	2.010000	0.40913	1.425000	0.47237	0.557000	0.71058	CGA		0.284	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		5	11	0	0	0	1	0	5	11				
ACSL1	2180	broad.mit.edu	37	4	185697685	185697685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185697685G>A	ENST00000515030.1	-	7	1034	c.709C>T	c.(709-711)Cga>Tga	p.R237*	ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.R66*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R237*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R203*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000504900.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.R66*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	237					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCTGGCCTCGTTCCACCAGT	0.517																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(709-711)Cga>Tga		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						144.0	137.0	139.0					4																	185697685		2203	4300	6503	SO:0001587	stop_gained	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185697685G>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.709C>T	4.37:g.185697685G>A	ENSP00000422607:p.Arg237*					ACSL1_ENST00000437665.3_Nonsense_Mutation_p.R66*|ACSL1_ENST00000504900.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.R66*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R203*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R237*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R237*	p.R237*			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	7	1034	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	237					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	ENST00000515030.1	37	c.709C>T	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	G	37	6.044862	0.97231	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317;ENST00000504900	.	.	.	5.77	4.93	0.64822	.	0.262304	0.36409	N	0.002618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3036	9.9544	0.41657	0.0693:0.0:0.7932:0.1375	.	.	.	.	X	66;237;237;203;66;237;237;237	.	ENSP00000281455:R237X	R	-	1	2	ACSL1	185934679	0.896000	0.30565	0.610000	0.28997	0.812000	0.45895	3.796000	0.55507	1.583000	0.49898	0.655000	0.94253	CGA		0.517	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		28	53	0	0	0	1	0	28	53				
DNAH2	146754	broad.mit.edu	37	17	7735091	7735091	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7735091A>C	ENST00000572933.1	+	82	14184	c.12724A>C	c.(12724-12726)Aag>Cag	p.K4242Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.K4242Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4242					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTCTGGGGAAAGGCAAGATT	0.488																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12724-12726)Aag>Cag		dynein, axonemal, heavy chain 2							125.0	106.0	112.0					17																	7735091		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7735091A>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12724A>C	17.37:g.7735091A>C	ENSP00000458355:p.Lys4242Gln					DNAH2_ENST00000389173.2_Missense_Mutation_p.K4242Q	p.K4242Q			Q9P225	DYH2_HUMAN			82	14184	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4242					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.12724A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385729	0.61956	.	.	ENSG00000183914	ENST00000389173	T	0.09445	2.98	5.37	5.37	0.77165	Dynein heavy chain (1);	0.054688	0.64402	D	0.000001	T	0.17746	0.0426	M	0.72118	2.19	0.80722	D	1	P	0.35307	0.494	B	0.39152	0.292	T	0.01516	-1.1335	9	.	.	.	.	14.4867	0.67622	1.0:0.0:0.0:0.0	.	4242	Q9P225	DYH2_HUMAN	Q	4242	ENSP00000373825:K4242Q	.	K	+	1	0	DNAH2	7675816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.171000	0.71926	2.254000	0.74563	0.533000	0.62120	AAG		0.488	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		13	31	0	0	0	1	0	13	31				
SEMA5A	9037	broad.mit.edu	37	5	9154778	9154778	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:9154778G>A	ENST00000382496.5	-	12	1968	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	435	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGATTCAGGGGTACCCGCACT	0.512																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1303-1305)Ccc>Tcc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							94.0	91.0	92.0					5																	9154778		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9154778G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1303C>T	5.37:g.9154778G>A	ENSP00000371936:p.Pro435Ser						p.P435S	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			12	1968	-			435			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1303C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989248	0.53934	.	.	ENSG00000112902	ENST00000382496	T	0.09630	2.96	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	N	0.25060	0.705	0.58432	D	0.999998	P	0.47910	0.902	P	0.47251	0.542	T	0.08351	-1.0726	10	0.36615	T	0.2	.	12.0815	0.53673	0.0:0.0:0.8282:0.1718	.	435	Q13591	SEM5A_HUMAN	S	435	ENSP00000371936:P435S	ENSP00000371936:P435S	P	-	1	0	SEMA5A	9207778	1.000000	0.71417	0.559000	0.28332	0.239000	0.25481	7.348000	0.79366	2.646000	0.89796	0.591000	0.81541	CCC		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			35	54	0	0	0	1	0	35	54				
GRM4	2914	broad.mit.edu	37	6	34026885	34026885	+	Missense_Mutation	SNP	C	C	T	rs539899143		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:34026885C>T	ENST00000538487.2	-	5	1336	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	GRM4_ENST00000609222.1_Missense_Mutation_p.R165Q|GRM4_ENST00000544773.2_Missense_Mutation_p.R129Q|GRM4_ENST00000374181.4_Missense_Mutation_p.R298Q|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.R165Q|GRM4_ENST00000374177.3_Missense_Mutation_p.R229Q|GRM4_ENST00000455714.2_Missense_Mutation_p.R158Q	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	298					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTGGCCCTTCGTGCTGCCTC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		15329	0.0		0.0	False		,,,				2504	0.001					ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(892-894)cGa>cAa		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						91.0	64.0	73.0					6																	34026885		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34026885C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.893G>A	6.37:g.34026885C>T	ENSP00000440556:p.Arg298Gln					GRM4_ENST00000374177.3_Missense_Mutation_p.R229Q|GRM4_ENST00000535756.1_Missense_Mutation_p.R165Q|GRM4_ENST00000544773.1_Missense_Mutation_p.R129Q|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000538487.1_Missense_Mutation_p.R298Q|GRM4_ENST00000455714.2_Missense_Mutation_p.R158Q	p.R298Q	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			4	1062	-			298					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.893G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679213	0.29783	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	3.55	3.55	0.40652	Extracellular ligand-binding receptor (1);	0.075226	0.51477	D	0.000091	T	0.47838	0.1467	L	0.31752	0.955	0.09310	N	0.999998	B;B;P;P;B	0.44946	0.024;0.017;0.846;0.604;0.014	B;B;B;B;B	0.35655	0.046;0.009;0.131;0.207;0.028	T	0.38308	-0.9667	10	0.19590	T	0.45	.	4.5697	0.12203	0.0:0.6932:0.0:0.3068	.	298;129;158;298;165	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	Q	298;229;165;129;298;158	ENSP00000363296:R298Q;ENSP00000363292:R229Q;ENSP00000437925:R165Q;ENSP00000437730:R129Q;ENSP00000440556:R298Q;ENSP00000398456:R158Q	ENSP00000363292:R229Q	R	-	2	0	GRM4	34134863	0.949000	0.32298	0.961000	0.40146	0.690000	0.40134	2.532000	0.45659	1.991000	0.58162	0.185000	0.17295	CGA		0.622	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			17	25	0	0	0	1	0	17	25				
KLHDC2	23588	broad.mit.edu	37	14	50244960	50244960	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:50244960G>A	ENST00000298307.5	+	5	1393	c.532G>A	c.(532-534)Gat>Aat	p.D178N	KLHDC2_ENST00000554589.1_Missense_Mutation_p.D178N|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Missense_Mutation_p.D178N	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	178						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TTTTGAATTCGATGAAACATC	0.303																																						ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(532-534)Gat>Aat		kelch domain containing 2							135.0	135.0	135.0					14																	50244960		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50244960G>A	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.532G>A	14.37:g.50244960G>A	ENSP00000298307:p.Asp178Asn					KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.D178N|KLHDC2_ENST00000557247.1_Missense_Mutation_p.D178N	p.D178N	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN			5	1393	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		178					B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.532G>A	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319821	0.95682	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.67698	3.59;3.27;-0.28	5.62	5.62	0.85841	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78426	0.4281	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.87578	0.837;0.998;0.995	T	0.73461	-0.3975	10	0.27785	T	0.31	-23.1518	19.662	0.95877	0.0:0.0:1.0:0.0	.	178;178;178	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	N	178	ENSP00000298307:D178N;ENSP00000451439:D178N;ENSP00000450658:D178N	ENSP00000298307:D178N	D	+	1	0	KLHDC2	49314710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.213000	0.95133	2.649000	0.89929	0.650000	0.86243	GAT		0.303	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			21	35	0	0	0	1	0	21	35				
CCDC83	220047	broad.mit.edu	37	11	85623738	85623738	+	Intron	SNP	C	C	A	rs374889719		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85623738C>A	ENST00000342404.3	+	8	1010				CCDC83_ENST00000280245.4_Missense_Mutation_p.L281M|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCGTCATCTGCTGCTGCTGCC	0.512																																						ENST00000280245.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29						c.(841-843)Ctg>Atg		coiled-coil domain containing 83							409.0	336.0	361.0					11																	85623738		2203	4299	6502	SO:0001627	intron_variant	220047							g.chr11:85623738C>A	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.794+1293C>A	11.37:g.85623738C>A						CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Intron	p.L281M	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN			9	1353	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	265					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.841C>A		.	.	.	.	.	.	.	.	.	.	C	14.09	2.431202	0.43122	.	.	ENSG00000150676	ENST00000280245	T	0.43688	0.94	2.96	2.04	0.26737	.	2.877710	0.01915	N	0.040101	T	0.59473	0.2196	.	.	.	0.09310	N	0.999999	D	0.76494	0.999	D	0.69479	0.964	T	0.22800	-1.0206	8	.	.	.	0.4007	5.8434	0.18647	0.0:0.8534:0.0:0.1466	.	281	Q8IWF9-2	.	M	281	ENSP00000280245:L281M	.	L	+	1	2	CCDC83	85301386	0.000000	0.05858	0.015000	0.15790	0.614000	0.37383	-0.045000	0.12003	0.810000	0.34279	0.467000	0.42956	CTG		0.512	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		6	204	1	0	3.59834e-05	1	3.93264e-05	6	204				
BMP1	649	broad.mit.edu	37	8	22019365	22019365	+	5'Flank	SNP	C	C	T	rs144603526	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:22019365C>T	ENST00000306385.5	+	0	0				SFTPC_ENST00000524255.1_Silent_p.V8V|SFTPC_ENST00000520605.1_Silent_p.V8V|SFTPC_ENST00000521315.1_Silent_p.V8V|SFTPC_ENST00000437090.2_Silent_p.V8V|SFTPC_ENST00000522109.1_Silent_p.V8V|SFTPC_ENST00000318561.3_Silent_p.V8V	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAAAGAGGTCCTGATGGAGA	0.592																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(22-24)gtC>gtT		surfactant protein C							152.0	176.0	168.0					8																	22019365		2164	4265	6429	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22019365C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22019365C>T	Exception_encountered					SFTPC_ENST00000318561.3_Silent_p.V8V|SFTPC_ENST00000437090.2_Silent_p.V8V|SFTPC_ENST00000522109.1_Silent_p.V8V|SFTPC_ENST00000520605.1_Silent_p.V8V|SFTPC_ENST00000524255.1_Silent_p.V8V	p.V8V			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	1	56	+			8					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.24C>T	CCDS6026.1																																																																																				0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		33	76	0	0	0	1	0	33	76				
DKC1	1736	broad.mit.edu	37	X	154004474	154004474	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154004474A>C	ENST00000369550.5	+	14	1561	c.1351A>C	c.(1351-1353)Agt>Cgt	p.S451R	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	451	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAGCGAGAGAGTGAGAGTGA	0.458									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1351-1353)Agt>Cgt		dyskeratosis congenita 1, dyskerin							73.0	67.0	69.0					X																	154004474		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:154004474A>C	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1351A>C	X.37:g.154004474A>C	ENSP00000358563:p.Ser451Arg					DKC1_ENST00000475966.1_3'UTR	p.S451R	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			14	1561	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		451			Nuclear and nucleolar localization.		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.1351A>C	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.014822	0.54468	.	.	ENSG00000130826	ENST00000369550	D	0.97303	-4.33	5.1	3.92	0.45320	.	0.691559	0.15696	N	0.249193	D	0.94758	0.8308	L	0.55481	1.735	0.45791	D	0.99867	P;P	0.48911	0.917;0.917	P;P	0.46049	0.502;0.502	D	0.90743	0.4651	10	0.30078	T	0.28	-17.7934	4.23	0.10599	0.7196:0.0:0.1003:0.1801	.	451;451	A8MUT5;O60832	.;DKC1_HUMAN	R	451	ENSP00000358563:S451R	ENSP00000358563:S451R	S	+	1	0	DKC1	153657668	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	3.249000	0.51437	0.828000	0.34709	0.486000	0.48141	AGT		0.458	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		22	48	0	0	0	1	0	22	48				
ACSM2A	123876	broad.mit.edu	37	16	20491925	20491925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20491925C>T	ENST00000573854.1	+	11	1426	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R210*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R359*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R438*	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	438					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAACATTCGAGGAGACTT	0.512																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1312-1314)Cga>Tga		acyl-CoA synthetase medium-chain family member 2A							116.0	93.0	101.0					16																	20491925		2203	4298	6501	SO:0001587	stop_gained	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20491925C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1312C>T	16.37:g.20491925C>T	ENSP00000459451:p.Arg438*					ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R210*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R359*	p.R438*	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			11	1426	+			438					B3KTT9|O75202	Nonsense_Mutation	SNP	ENST00000573854.1	37	c.1312C>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	39	7.630041	0.98399	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	.	.	.	3.22	2.21	0.28008	.	0.490322	0.14929	N	0.290162	.	.	.	.	.	.	0.32100	N	0.590723	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3051	6.6302	0.22853	0.1786:0.7175:0.0:0.1039	.	.	.	.	X	359;438;210;438	.	ENSP00000219054:R438X	R	+	1	2	ACSM2A	20399426	0.004000	0.15560	0.806000	0.32338	0.843000	0.47879	0.146000	0.16180	0.422000	0.26005	0.298000	0.19748	CGA		0.512	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		54	90	0	0	0	1	0	54	90				
MAG	4099	broad.mit.edu	37	19	35786762	35786762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35786762G>T	ENST00000392213.3	+	4	452	c.293G>T	c.(292-294)cGa>cTa	p.R98L	MAG_ENST00000597035.1_Intron|MAG_ENST00000537831.2_Missense_Mutation_p.R73L|MAG_ENST00000361922.4_Missense_Mutation_p.R98L	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	98	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGGGCCTGCGAAACTGCACC	0.642																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(292-294)cGa>cTa		myelin associated glycoprotein							91.0	99.0	97.0					19																	35786762		2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786762G>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.293G>T	19.37:g.35786762G>T	ENSP00000376048:p.Arg98Leu					MAG_ENST00000537831.2_Missense_Mutation_p.R73L|MAG_ENST00000392213.3_Missense_Mutation_p.R98L|MAG_ENST00000597035.1_Intron	p.R98L	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	443	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	98			Ig-like V-type.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.293G>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385421	0.82792	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.46063	0.88;0.88;0.88	5.31	5.31	0.75309	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.305707	0.34411	N	0.003984	T	0.59702	0.2213	M	0.66939	2.045	0.43841	D	0.996424	D;D;D	0.76494	0.993;0.999;0.999	P;D;D	0.65010	0.756;0.931;0.931	T	0.56685	-0.7938	10	0.37606	T	0.19	.	14.8275	0.70125	0.0:0.0:1.0:0.0	.	135;98;98	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	L	135;98;98;73	ENSP00000355234:R98L;ENSP00000376048:R98L;ENSP00000440695:R73L	ENSP00000262624:R135L	R	+	2	0	MAG	40478602	0.999000	0.42202	0.995000	0.50966	0.925000	0.55904	2.950000	0.49081	2.650000	0.89964	0.442000	0.29010	CGA		0.642	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		75	127	1	0	2.23399e-28	1	3.17216e-28	75	127				
TTN	7273	broad.mit.edu	37	2	179664562	179664562	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179664562C>T	ENST00000591111.1	-	5	883	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TTN_ENST00000589042.1_Missense_Mutation_p.R220Q|TTN_ENST00000342992.6_Missense_Mutation_p.R220Q|TTN_ENST00000360870.5_Missense_Mutation_p.R220Q|TTN_ENST00000460472.2_Missense_Mutation_p.R220Q|TTN_ENST00000359218.5_Missense_Mutation_p.R220Q|TTN_ENST00000342175.6_Missense_Mutation_p.R220Q			Q8WZ42	TITIN_HUMAN	titin	33894					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R220P(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCAATTCGGGTTTGTCT	0.403																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.R220P(6)	lung(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(658-660)cGa>cAa		titin							98.0	97.0	98.0					2																	179664562		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664562C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.659G>A	2.37:g.179664562C>T	ENSP00000465570:p.Arg220Gln					TTN_ENST00000342175.6_Missense_Mutation_p.R220Q|TTN_ENST00000359218.5_Missense_Mutation_p.R220Q|TTN_ENST00000342992.6_Missense_Mutation_p.R220Q|TTN_ENST00000360870.5_Missense_Mutation_p.R220Q|TTN_ENST00000460472.2_Missense_Mutation_p.R220Q|TTN_ENST00000591111.1_Missense_Mutation_p.R220Q	p.R220Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		5	883	-			220					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.659G>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.153628	0.78114	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67345	-0.26;-0.06;-0.08;-0.09;0.14	5.92	5.05	0.67936	.	.	.	.	.	T	0.61974	0.2390	M	0.61703	1.905	0.27009	N	0.964739	B;B;B;B;P	0.46512	0.272;0.272;0.272;0.272;0.879	B;B;B;B;B	0.33750	0.022;0.022;0.022;0.022;0.169	T	0.62158	-0.6913	9	0.87932	D	0	.	15.3812	0.74658	0.0:0.9331:0.0:0.0669	.	220;220;220;220;220	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	220	ENSP00000343764:R220Q;ENSP00000434586:R220Q;ENSP00000340554:R220Q;ENSP00000352154:R220Q;ENSP00000354117:R220Q	ENSP00000340554:R220Q	R	-	2	0	TTN	179372807	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	4.653000	0.61462	1.517000	0.48917	0.655000	0.94253	CGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	31	0	0	0	1	0	18	31				
UBE2M	9040	broad.mit.edu	37	19	59067707	59067707	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:59067707A>C	ENST00000253023.3	-	5	965	c.387T>G	c.(385-387)atT>atG	p.I129M	AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000601220.1_5'Flank|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000600118.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	129					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GCAGGCCATAAATTATGGAGT	0.547																																						ENST00000253023.3																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5						c.(385-387)atT>atG		ubiquitin-conjugating enzyme E2M							90.0	90.0	90.0					19																	59067707		2203	4300	6503	SO:0001583	missense	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59067707A>C	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.387T>G	19.37:g.59067707A>C	ENSP00000253023:p.Ile129Met						p.I129M	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	5	965	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	129					O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	c.387T>G	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335733	0.41398	.	.	ENSG00000130725	ENST00000253023	T	0.73681	-0.77	4.62	2.49	0.30216	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.076440	0.46758	D	0.000262	T	0.76941	0.4058	M	0.69523	2.12	0.40216	D	0.977686	P	0.45569	0.861	P	0.54210	0.745	T	0.74478	-0.3652	10	0.44086	T	0.13	-30.8289	4.9304	0.13914	0.7392:0.0:0.0939:0.1669	.	129	P61081	UBC12_HUMAN	M	129	ENSP00000253023:I129M	ENSP00000253023:I129M	I	-	3	3	UBE2M	63759519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.730000	0.38125	0.880000	0.35969	0.533000	0.62120	ATT		0.547	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		28	63	0	0	0	1	0	28	63				
TPRN	286262	broad.mit.edu	37	9	140093883	140093883	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140093883C>T	ENST00000409012.4	-	1	1367	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.S366S	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	427					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CAGCTTCTTCCGAAGCAGCCG	0.657																																						ENST00000409012.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1279-1281)tcG>tcA		taperin							13.0	15.0	15.0					9																	140093883		2190	4290	6480	SO:0001819	synonymous_variant	286262				sensory perception of sound	stereocilium		g.chr9:140093883C>T	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1281G>A	9.37:g.140093883C>T						TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.S366S	p.S427S	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			1	1367	-			427					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Silent	SNP	ENST00000409012.4	37	c.1281G>A	CCDS56594.1																																																																																				0.657	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		8	22	0	0	0	1	0	8	22				
CTNND1	1500	broad.mit.edu	37	11	57573508	57573508	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57573508G>A	ENST00000399050.4	+	10	2412		c.e10+1		CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000527467.1_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000531014.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000525902.1_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000524630.1_Splice_Site|CTNND1_ENST00000526772.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000533667.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGGGCAAAGGTGAGTCTTGG	0.483																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.e10+1		catenin (cadherin-associated protein), delta 1							88.0	85.0	86.0					11																	57573508		1956	4144	6100	SO:0001630	splice_region_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57573508G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1876+1G>A	11.37:g.57573508G>A						CTNND1_ENST00000525902.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000531014.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000533667.1_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000527467.1_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000526772.1_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site				O60716	CTND1_HUMAN			10	2389	+		all_epithelial(135;0.155)						A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Splice_Site	SNP	ENST00000399050.4	37		CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063092	0.76187	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8914	0.96931	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNND1	57330084	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.476000	0.97823	2.813000	0.96785	0.655000	0.94253	.		0.483	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	Intron	5	11	0	0	0	1	0	5	11				
PRDM13	59336	broad.mit.edu	37	6	100057121	100057121	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100057121C>A	ENST00000369215.4	+	3	640	c.335C>A	c.(334-336)tCt>tAt	p.S112Y		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	112	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GTGTGGTATTCTAACTCCTTG	0.537																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(364-366)tCt>tAt		PR domain containing 13							75.0	81.0	79.0					6																	100057121		2131	4249	6380	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100057121C>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.335C>A	6.37:g.100057121C>A	ENSP00000358217:p.Ser112Tyr					PRDM13_ENST00000369215.4_Missense_Mutation_p.S112Y	p.S122Y	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	626	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	112					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.365C>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093520	0.94149	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	D;D	0.85861	-2.04;-2.04	5.65	5.65	0.86999	SET domain (2);	0.000000	0.38436	N	0.001695	D	0.90689	0.7079	M	0.64404	1.975	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.90987	0.4832	10	0.87932	D	0	-25.232	19.3827	0.94543	0.0:1.0:0.0:0.0	.	112	Q9H4Q3	PRD13_HUMAN	Y	112;122	ENSP00000358217:S112Y;ENSP00000358216:S122Y	ENSP00000358216:S122Y	S	+	2	0	PRDM13	100163842	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.410000	0.80065	2.689000	0.91719	0.558000	0.71614	TCT		0.537	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			11	22	1	0	2.27111e-07	1	2.60515e-07	11	22				
MGAT4C	25834	broad.mit.edu	37	12	86383317	86383317	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:86383317T>G	ENST00000604798.1	-	6	1212	c.8A>C	c.(7-9)aAa>aCa	p.K3T	MGAT4C_ENST00000548651.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000393205.2_Missense_Mutation_p.K32T|MGAT4C_ENST00000549405.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000332156.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000552435.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000552808.2_Missense_Mutation_p.K3T			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	3					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGATGAAATTTAAACATTCT	0.318																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(7-9)aAa>aCa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							39.0	38.0	39.0					12																	86383317		2202	4295	6497	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86383317T>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.8A>C	12.37:g.86383317T>G	ENSP00000474896:p.Lys3Thr					MGAT4C_ENST00000549405.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000393205.2_Missense_Mutation_p.K32T|MGAT4C_ENST00000552808.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000548651.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000332156.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000552435.2_Missense_Mutation_p.K3T	p.K3T			Q9UBM8	MGT4C_HUMAN			6	1212	-			3					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.8A>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.130071	0.37630	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.47869	1.43;1.4;1.43;1.43;1.43;0.83	5.69	3.15	0.36227	.	0.644375	0.15358	N	0.266568	T	0.28001	0.0690	N	0.14661	0.345	0.29032	N	0.885624	B;B	0.15473	0.013;0.001	B;B	0.08055	0.003;0.001	T	0.15292	-1.0442	10	0.49607	T	0.09	-18.5343	6.6847	0.23138	0.1511:0.0:0.295:0.5539	.	32;3	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	T	3;32;3;3;3;3;3;3	ENSP00000331664:K3T;ENSP00000376900:K32T;ENSP00000449022:K3T;ENSP00000446647:K3T;ENSP00000447253:K3T;ENSP00000449172:K3T	ENSP00000331664:K3T	K	-	2	0	MGAT4C	84907448	0.970000	0.33590	1.000000	0.80357	0.989000	0.77384	1.045000	0.30341	0.941000	0.37499	0.533000	0.62120	AAA		0.318	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		9	16	0	0	0	1	0	9	16				
OBP2A	29991	broad.mit.edu	37	9	138440590	138440590	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138440590A>C	ENST00000539850.1	+	5	451	c.425A>C	c.(424-426)gAa>gCa	p.E142A	OBP2A_ENST00000340780.3_Missense_Mutation_p.N164H|OBP2A_ENST00000371776.1_Missense_Mutation_p.E142A|OBP2A_ENST00000342114.4_Missense_Mutation_p.E119A			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	142					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GCCCTGGAAGAATTTAAGAAA	0.597																																						ENST00000539850.1																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(424-426)gAa>gCa		odorant binding protein 2A							107.0	99.0	102.0					9																	138440590		2203	4300	6503	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138440590A>C	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.425A>C	9.37:g.138440590A>C	ENSP00000441028:p.Glu142Ala					OBP2A_ENST00000340780.3_Missense_Mutation_p.N164H|OBP2A_ENST00000342114.4_Missense_Mutation_p.E119A|OBP2A_ENST00000371776.1_Missense_Mutation_p.E142A	p.E142A			Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	5	451	+			142					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.425A>C	CCDS6992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	12.35|12.35	1.910382|1.910382	0.33721|0.33721	.|.	.|.	ENSG00000122136|ENSG00000122136	ENST00000342114;ENST00000371776;ENST00000539850|ENST00000340780	T;T;T|T	0.11712|0.29655	2.75;2.75;2.75|1.56	2.49|2.49	1.23|1.23	0.21249|0.21249	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	.|.	.|.	.|.	.|.	T|T	0.22898|0.22898	0.0553|0.0553	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	0.999996|0.999996	B;D|B	0.62365|0.28552	0.007;0.991|0.215	B;P|B	0.58013|0.29440	0.014;0.831|0.102	T|T	0.26326|0.26326	-1.0106|-1.0106	9|9	0.46703|0.20046	T|T	0.11|0.44	-0.6432|-0.6432	5.9034|5.9034	0.18980|0.18980	0.6261:0.3739:0.0:0.0|0.6261:0.3739:0.0:0.0	.|.	119;142|164	Q5T8A4;Q9NY56|Q5T8A5	.;OBP2A_HUMAN|.	A|H	119;142;142|164	ENSP00000340950:E119A;ENSP00000360841:E142A;ENSP00000441028:E142A|ENSP00000342097:N164H	ENSP00000340950:E119A|ENSP00000342097:N164H	E|N	+|+	2|1	0|0	OBP2A|OBP2A	137580411|137580411	0.007000|0.007000	0.16637|0.16637	0.225000|0.225000	0.23894|0.23894	0.026000|0.026000	0.11368|0.11368	-0.191000|-0.191000	0.09601|0.09601	0.305000|0.305000	0.22832|0.22832	0.393000|0.393000	0.25936|0.25936	GAA|AAT		0.597	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		34	66	0	0	0	1	0	34	66				
C17orf53	78995	broad.mit.edu	37	17	42225299	42225299	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42225299G>T	ENST00000319977.4	+	3	365	c.128G>T	c.(127-129)aGa>aTa	p.R43I	C17orf53_ENST00000245382.6_Missense_Mutation_p.R43I|C17orf53_ENST00000585683.1_Missense_Mutation_p.R43I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	43										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGCGCCTGAGACCTGTCTCT	0.572																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(127-129)aGa>aTa		chromosome 17 open reading frame 53							71.0	68.0	69.0					17																	42225299		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42225299G>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.128G>T	17.37:g.42225299G>T	ENSP00000313500:p.Arg43Ile					C17orf53_ENST00000585683.1_Missense_Mutation_p.R43I|C17orf53_ENST00000245382.6_Missense_Mutation_p.R43I	p.R43I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	365	+		Breast(137;0.0364)|Prostate(33;0.0376)	43					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.128G>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212475	0.39102	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.48522	0.81;0.81	5.28	3.13	0.36017	.	0.073552	0.44688	D	0.000429	T	0.60586	0.2280	L	0.58101	1.795	0.40201	D	0.977517	P;D;D	0.76494	0.919;0.999;0.97	B;D;B	0.74023	0.406;0.982;0.406	T	0.64567	-0.6377	10	0.87932	D	0	-4.8517	10.0152	0.42010	0.0872:0.1465:0.7663:0.0	.	43;43;43	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	I	43	ENSP00000313500:R43I;ENSP00000245382:R43I	ENSP00000245382:R43I	R	+	2	0	C17orf53	39580825	0.150000	0.22732	0.116000	0.21606	0.095000	0.18619	1.172000	0.31908	1.417000	0.47077	0.561000	0.74099	AGA		0.572	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		6	86	1	0	0.00116845	1	0.00122532	6	86				
SLC27A1	376497	broad.mit.edu	37	19	17598015	17598015	+	Missense_Mutation	SNP	A	A	C	rs199913865		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17598015A>C	ENST00000252595.7	+	3	692	c.595A>C	c.(595-597)Agt>Cgt	p.S199R	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Missense_Mutation_p.S20R|SLC27A1_ENST00000442725.1_Missense_Mutation_p.S199R	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	199	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGGGGAAAAGTTTGATCAA	0.647																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(595-597)Agt>Cgt		solute carrier family 27 (fatty acid transporter), member 1							87.0	90.0	89.0					19																	17598015		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17598015A>C	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.595A>C	19.37:g.17598015A>C	ENSP00000252595:p.Ser199Arg					SLC27A1_ENST00000442725.1_Missense_Mutation_p.S199R|SLC27A1_ENST00000598424.1_Missense_Mutation_p.S20R	p.S199R	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			3	692	+			199			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.595A>C	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	A	8.280	0.815317	0.16607	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.48836	0.8;0.8	4.65	3.55	0.40652	AMP-dependent synthetase/ligase (1);	0.228496	0.45606	D	0.000344	T	0.33585	0.0868	L	0.37697	1.125	0.37822	D	0.928406	B;B	0.10296	0.003;0.003	B;B	0.21151	0.033;0.033	T	0.17776	-1.0358	10	0.15499	T	0.54	.	9.0998	0.36662	0.8154:0.1846:0.0:0.0	.	20;199	B7Z662;Q6PCB7	.;S27A1_HUMAN	R	199;199;61	ENSP00000413424:S199R;ENSP00000252595:S199R	ENSP00000252595:S199R	S	+	1	0	SLC27A1	17459015	0.307000	0.24500	0.989000	0.46669	0.015000	0.08874	1.560000	0.36331	1.734000	0.51633	0.379000	0.24179	AGT		0.647	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		10	51	0	0	0	1	0	10	51				
CDC42BPB	9578	broad.mit.edu	37	14	103406031	103406031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:103406031T>G	ENST00000361246.2	-	34	5031	c.4743A>C	c.(4741-4743)aaA>aaC	p.K1581N	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGATATCATTTTGGATCTCA	0.557																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(4741-4743)aaA>aaC		CDC42 binding protein kinase beta (DMPK-like)							228.0	224.0	226.0					14																	103406031		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103406031T>G	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4743A>C	14.37:g.103406031T>G	ENSP00000355237:p.Lys1581Asn						p.K1581N	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	34	5031	-		Melanoma(154;0.155)	1581						Missense_Mutation	SNP	ENST00000361246.2	37	c.4743A>C	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292765	0.80914	.	.	ENSG00000198752	ENST00000361246	T	0.68624	-0.34	4.53	-7.02	0.01589	.	0.157167	0.56097	D	0.000028	T	0.62183	0.2407	M	0.79805	2.47	0.54753	D	0.999985	P	0.39903	0.694	B	0.36092	0.217	T	0.66736	-0.5848	10	0.66056	D	0.02	.	16.7642	0.85520	0.0:0.6935:0.0:0.3065	.	1581	Q9Y5S2	MRCKB_HUMAN	N	1581	ENSP00000355237:K1581N	ENSP00000355237:K1581N	K	-	3	2	CDC42BPB	102475784	0.974000	0.33945	0.892000	0.35008	0.994000	0.84299	0.185000	0.16958	-1.391000	0.02085	-0.290000	0.09829	AAA		0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		16	166	0	0	0	1	0	16	166				
C1ORF220	400798	broad.mit.edu	37	1	178514661	178514661	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178514661A>C	ENST00000367636.4	+	2	385	c.47A>C	c.(46-48)aAa>aCa	p.K16T	C1orf220_ENST00000319387.2_3'UTR|C1orf220_ENST00000521244.1_3'UTR																							caagtaaagaaagtgagattg	0.478																																						ENST00000367636.4																			0											c.(46-48)aAa>aCa									51.0	47.0	48.0					1																	178514661		2203	4300	6503	SO:0001583	missense	0							g.chr1:178514661A>C																												ENST00000367636.4:c.47A>C	1.37:g.178514661A>C	ENSP00000356608:p.Lys16Thr					C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR	p.K16T							2	385	+									Missense_Mutation	SNP	ENST00000367636.4	37	c.47A>C		.	.	.	.	.	.	.	.	.	.	A	5.895	0.349280	0.11182	.	.	ENSG00000184909	ENST00000367636	T	0.32272	1.46	3.21	0.854	0.19007	.	.	.	.	.	T	0.41213	0.1149	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.17077	-1.0381	7	.	.	.	.	5.1056	0.14783	0.7435:0.0:0.2565:0.0	.	16	Q5T0J3	CA220_HUMAN	T	16	ENSP00000356608:K16T	.	K	+	2	0	AL513013.1	176781284	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.158000	0.16422	0.173000	0.19788	0.374000	0.22700	AAA		0.478	C1ORF220-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				8	11	0	0	0	1	0	8	11				
MYO1H	283446	broad.mit.edu	37	12	109863801	109863801	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:109863801C>A	ENST00000431443.2	+	17	1758	c.1758C>A	c.(1756-1758)atC>atA	p.I586I	MYO1H_ENST00000310903.5_Silent_p.I576I	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	586	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAACCCTCATCTCTAAGGAGC	0.502																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(1726-1728)atC>atA		myosin IH							70.0	69.0	69.0					12																	109863801		1972	4174	6146	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109863801C>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1758C>A	12.37:g.109863801C>A						MYO1H_ENST00000431443.2_Silent_p.I586I	p.I576I			B4DNW6	B4DNW6_HUMAN			18	1834	+			0					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.1728C>A																																																																																					0.502	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		18	31	1	0	6.94344e-10	1	8.4399e-10	18	31				
XIRP2	129446	broad.mit.edu	37	2	168106676	168106676	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168106676C>A	ENST00000409195.1	+	9	8863	c.8774C>A	c.(8773-8775)tCt>tAt	p.S2925Y	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2703Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2925Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2750					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGAACAAATCTTTCTTTTCC	0.378																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8773-8775)tCt>tAt		xin actin-binding repeat containing 2							81.0	78.0	78.0					2																	168106676		1824	4078	5902	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106676C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8774C>A	2.37:g.168106676C>A	ENSP00000386840:p.Ser2925Tyr					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2925Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2703Y	p.S2925Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8863	+			2750					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8774C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839978	0.51057	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02837	4.14;4.14;4.14	6.02	4.97	0.65823	.	0.527202	0.20025	N	0.100832	T	0.09069	0.0224	M	0.63428	1.95	0.31377	N	0.679464	D;D;D	0.65815	0.991;0.995;0.995	P;P;P	0.58172	0.687;0.834;0.834	T	0.00607	-1.1647	10	0.62326	D	0.03	-16.2478	9.7926	0.40715	0.1443:0.7735:0.0:0.0822	.	2750;2750;2703	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2925;2925;2703;339	ENSP00000386840:S2925Y;ENSP00000295237:S2925Y;ENSP00000387255:S2703Y	ENSP00000295237:S2925Y	S	+	2	0	XIRP2	167814922	0.031000	0.19500	1.000000	0.80357	0.982000	0.71751	-0.036000	0.12185	2.865000	0.98341	0.655000	0.94253	TCT		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		29	53	1	0	1.38854e-25	1	1.95732e-25	29	53				
CEP55	55165	broad.mit.edu	37	10	95263099	95263099	+	Missense_Mutation	SNP	G	G	A	rs370361002		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95263099G>A	ENST00000371485.3	+	3	717	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	138					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GCAACCTCACGAATTGCTGAA	0.393																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(412-414)cGa>cAa		centrosomal protein 55kDa		G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	161.0	142.0	148.0		413,413	4.5	0.5	10		148	0,8600		0,0,4300	no	missense,missense	CEP55	NM_001127182.1,NM_018131.4	43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	138/465,138/465	95263099	2,13004	2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95263099G>A	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.413G>A	10.37:g.95263099G>A	ENSP00000360540:p.Arg138Gln						p.R138Q	NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN			3	717	+		Colorectal(252;0.207)	138					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.413G>A	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930594	0.52866	4.54E-4	0.0	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.21361	2.01	5.37	4.46	0.54185	.	0.100180	0.64402	D	0.000003	T	0.19725	0.0474	M	0.66939	2.045	0.34525	D	0.70859	P	0.51240	0.943	B	0.35899	0.213	T	0.44112	-0.9349	10	0.72032	D	0.01	-14.7317	9.6914	0.40131	0.1644:0.0:0.8356:0.0	.	138	Q53EZ4	CEP55_HUMAN	Q	138	ENSP00000360540:R138Q	ENSP00000351102:R138Q	R	+	2	0	CEP55	95253089	0.987000	0.35691	0.501000	0.27601	0.250000	0.25880	0.950000	0.29122	1.388000	0.46506	0.655000	0.94253	CGA		0.393	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		20	41	0	0	0	1	0	20	41				
ZW10	9183	broad.mit.edu	37	11	113614583	113614583	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113614583C>A	ENST00000200135.3	-	10	1596	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	484					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CCATTAATTTCTTCACAGACT	0.418																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(1450-1452)aaG>aaT		zw10 kinetochore protein							171.0	159.0	163.0					11																	113614583		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113614583C>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1452G>T	11.37:g.113614583C>A	ENSP00000200135:p.Lys484Asn						p.K484N	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	10	1596	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	484					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.1452G>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192177	0.38707	.	.	ENSG00000086827	ENST00000200135	T	0.46451	0.87	5.57	4.65	0.58169	.	0.221660	0.46758	D	0.000263	T	0.34861	0.0912	L	0.43152	1.355	0.42632	D	0.993382	B	0.09022	0.002	B	0.19946	0.027	T	0.12091	-1.0561	10	0.17832	T	0.49	-9.5216	13.0401	0.58895	0.0:0.9215:0.0:0.0785	.	484	O43264	ZW10_HUMAN	N	484	ENSP00000200135:K484N	ENSP00000200135:K484N	K	-	3	2	ZW10	113119793	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	1.880000	0.39628	1.335000	0.45486	0.460000	0.39030	AAG		0.418	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		30	63	1	0	6.00712e-18	1	8.10414e-18	30	63				
DNAH8	1769	broad.mit.edu	37	6	38750826	38750826	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38750826G>A	ENST00000359357.3	+	15	1909	c.1655G>A	c.(1654-1656)cGt>cAt	p.R552H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R552H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R769H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	552					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTGTCATCCGTCAGTATAAC	0.383																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(1654-1656)cGt>cAt		dynein, axonemal, heavy chain 8							131.0	120.0	124.0					6																	38750826		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38750826G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1655G>A	6.37:g.38750826G>A	ENSP00000352312:p.Arg552His					DNAH8_ENST00000449981.2_Missense_Mutation_p.R769H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R552H	p.R552H							15	1909	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1655G>A		.	.	.	.	.	.	.	.	.	.	G	17.01	3.280628	0.59758	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.56776	0.44;0.44;0.44	5.93	5.93	0.95920	Dynein heavy chain, domain-1 (1);	0.141869	0.48767	D	0.000171	T	0.29524	0.0736	L	0.41492	1.28	0.44899	D	0.997917	B	0.22480	0.07	B	0.21708	0.036	T	0.08743	-1.0707	10	0.33940	T	0.23	.	12.1873	0.54247	0.084:0.0:0.916:0.0	.	552	Q96JB1	DYH8_HUMAN	H	757;757;552;552	ENSP00000333363:R757H;ENSP00000352312:R552H;ENSP00000402294:R552H	ENSP00000333363:R757H	R	+	2	0	DNAH8	38858804	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.302000	0.43637	2.798000	0.96311	0.655000	0.94253	CGT		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		16	33	0	0	0	1	0	16	33				
ASXL2	55252	broad.mit.edu	37	2	26022301	26022301	+	Missense_Mutation	SNP	T	T	C	rs578025365		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:26022301T>C	ENST00000435504.4	-	5	649	c.356A>G	c.(355-357)gAt>gGt	p.D119G	ASXL2_ENST00000336112.4_Missense_Mutation_p.D91G|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	119	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCCACCATCACTGCTGCT	0.478													T|||	1	0.000199681	0.0	0.0	5008	,	,		19362	0.0		0.0	False		,,,				2504	0.001					ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(355-357)gAt>gGt		additional sex combs like 2 (Drosophila)							205.0	203.0	204.0					2																	26022301		2064	4225	6289	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022301T>C			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.356A>G	2.37:g.26022301T>C	ENSP00000391447:p.Asp119Gly					ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.D91G|ASXL2_ENST00000272341.4_5'UTR	p.D119G			Q76L83	ASXL2_HUMAN			5	649	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		119			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.356A>G		.	.	.	.	.	.	.	.	.	.	T	13.81	2.349197	0.41599	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.19250	2.16;2.17	5.8	5.8	0.92144	.	0.213391	0.48767	D	0.000177	T	0.24392	0.0591	N	0.22421	0.69	0.80722	D	1	D	0.56968	0.978	P	0.55508	0.777	T	0.02661	-1.1127	10	0.87932	D	0	-22.4464	9.4712	0.38844	0.0:0.0793:0.0:0.9207	.	119	Q76L83	ASXL2_HUMAN	G	119;91	ENSP00000391447:D119G;ENSP00000337250:D91G	ENSP00000337250:D91G	D	-	2	0	ASXL2	25875805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.506000	0.53364	2.214000	0.71695	0.374000	0.22700	GAT		0.478	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		13	90	0	0	0	1	0	13	90				
LAMA3	3909	broad.mit.edu	37	18	21330920	21330920	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21330920A>C	ENST00000313654.9	+	5	964	c.723A>C	c.(721-723)aaA>aaC	p.K241N	LAMA3_ENST00000399516.3_Missense_Mutation_p.K241N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	241	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CAGGTGCAAAAAATTTTACTT	0.423																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(721-723)aaA>aaC		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						120.0	119.0	119.0					18																	21330920		1867	4096	5963	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21330920A>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.723A>C	18.37:g.21330920A>C	ENSP00000324532:p.Lys241Asn					LAMA3_ENST00000399516.3_Missense_Mutation_p.K241N	p.K241N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			5	964	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		241			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.723A>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.116988	0.37339	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.75704	-0.96;-0.96	5.64	4.48	0.54585	Laminin, N-terminal (3);	.	.	.	.	T	0.52338	0.1728	N	0.16478	0.41	0.80722	D	1	B;P;P	0.42908	0.153;0.793;0.568	B;B;B	0.39258	0.148;0.295;0.156	T	0.47484	-0.9114	9	0.10902	T	0.67	.	7.1825	0.25780	0.7985:0.0:0.0708:0.1306	.	241;241;241	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	N	241	ENSP00000324532:K241N;ENSP00000382432:K241N	ENSP00000324532:K241N	K	+	3	2	LAMA3	19584918	0.997000	0.39634	0.998000	0.56505	0.858000	0.48976	0.624000	0.24462	0.956000	0.37904	0.533000	0.62120	AAA		0.423	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		32	41	0	0	0	1	0	32	41				
SHANK1	50944	broad.mit.edu	37	19	51218983	51218983	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51218983C>T	ENST00000293441.1	-	3	482	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	SHANK1_ENST00000359082.3_Missense_Mutation_p.R155Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R155Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	155					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGTCTTGTATCGGAACTGAGG	0.532																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(463-465)cGa>cAa		SH3 and multiple ankyrin repeat domains 1							193.0	176.0	182.0					19																	51218983		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51218983C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.464G>A	19.37:g.51218983C>T	ENSP00000293441:p.Arg155Gln					SHANK1_ENST00000359082.3_Missense_Mutation_p.R155Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R155Q	p.R155Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	3	482	-		all_neural(266;0.057)	155					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.464G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.850499	0.32699	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.18174	2.23;2.23;2.23	1.55	1.55	0.23275	.	0.000000	0.50627	U	0.000119	T	0.38134	0.1029	M	0.78049	2.395	0.53688	D	0.999972	D	0.89917	1.0	D	0.74023	0.982	T	0.39800	-0.9596	10	0.87932	D	0	.	10.8145	0.46567	0.0:1.0:0.0:0.0	.	155	Q9Y566	SHAN1_HUMAN	Q	155	ENSP00000293441:R155Q;ENSP00000351984:R155Q;ENSP00000375690:R155Q	ENSP00000293441:R155Q	R	-	2	0	SHANK1	55910795	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	6.825000	0.75293	1.211000	0.43351	0.298000	0.19748	CGA		0.532	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		44	79	0	0	0	1	0	44	79				
PCDHB2	56133	broad.mit.edu	37	5	140475653	140475653	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140475653G>A	ENST00000194155.4	+	1	1427	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCACCGACTTCGGGAC	0.537																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1279-1281)Gac>Aac									137.0	126.0	130.0					5																	140475653		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475653G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1279G>A	5.37:g.140475653G>A	ENSP00000194155:p.Asp427Asn						p.D427N	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1427	+			427			Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1279G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218030	0.58560	.	.	ENSG00000112852	ENST00000194155	T	0.65364	-0.15	5.11	5.11	0.69529	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88254	0.6387	H	0.99058	4.415	0.50813	D	0.999894	D	0.89917	1.0	D	0.97110	1.0	D	0.93088	0.6497	9	0.87932	D	0	.	18.5922	0.91217	0.0:0.0:1.0:0.0	.	427	Q9Y5E7	PCDB2_HUMAN	N	427	ENSP00000194155:D427N	ENSP00000194155:D427N	D	+	1	0	PCDHB2	140455837	1.000000	0.71417	0.113000	0.21522	0.026000	0.11368	7.487000	0.81328	2.542000	0.85734	0.650000	0.86243	GAC		0.537	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		72	150	0	0	0	1	0	72	150				
NOS2	4843	broad.mit.edu	37	17	26114738	26114738	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26114738C>T	ENST00000313735.6	-	5	666	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	145					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TTGACAAATTCGATAGCTTGA	0.527																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(433-435)Gaa>Aaa		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						141.0	146.0	144.0					17																	26114738		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26114738C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.433G>A	17.37:g.26114738C>T	ENSP00000327251:p.Glu145Lys						p.E145K	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			5	666	-			145					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.433G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997367	0.74818	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.24350	1.86	5.64	4.67	0.58626	Nitric oxide synthase, oxygenase domain (3);	0.250293	0.38720	N	0.001591	T	0.31670	0.0804	M	0.68317	2.08	0.43334	D	0.995374	B;P	0.37612	0.148;0.602	B;B	0.37550	0.018;0.253	T	0.16689	-1.0394	10	0.59425	D	0.04	.	15.7108	0.77626	0.0:0.8629:0.1371:0.0	.	145;145	F8WEM3;P35228	.;NOS2_HUMAN	K	145	ENSP00000327251:E145K	ENSP00000305638:E145K	E	-	1	0	NOS2	23138865	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	4.591000	0.61019	1.390000	0.46547	0.557000	0.71058	GAA		0.527	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		50	81	0	0	0	1	0	50	81				
COL4A3BP	10087	broad.mit.edu	37	5	74698848	74698848	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74698848G>T	ENST00000405807.4	-	9	1387	c.966C>A	c.(964-966)ttC>ttA	p.F322L	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.F450L|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.F322L	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	322					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CAGCATCAAAGAACTCTTCTT	0.318																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(1348-1350)ttC>ttA		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							105.0	111.0	109.0					5																	74698848		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74698848G>T	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.966C>A	5.37:g.74698848G>T	ENSP00000383996:p.Phe322Leu					COL4A3BP_ENST00000405807.4_Missense_Mutation_p.F322L|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.F322L	p.F450L	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	10	1643	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	322			START.		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.1350C>A	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438124	0.83885	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.62941	0.15;-0.01;0.24	5.87	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.69424	0.3109	L	0.36672	1.1	0.58432	D	0.999998	D;D;D	0.76494	0.998;0.999;0.992	D;D;P	0.83275	0.99;0.996;0.892	T	0.69957	-0.5004	10	0.59425	D	0.04	-5.529	12.1116	0.53842	0.1398:0.0:0.8602:0.0	.	322;450;322	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	L	322;450;322	ENSP00000383996:F322L;ENSP00000369862:F450L;ENSP00000261415:F322L	ENSP00000261415:F322L	F	-	3	2	COL4A3BP	74734604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.021000	0.41020	0.829000	0.34733	0.591000	0.81541	TTC		0.318	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		13	28	1	0	0.00010058	1	0.000108553	13	28				
MTUS2	23281	broad.mit.edu	37	13	30071434	30071434	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:30071434C>T	ENST00000380808.2	+	6	792	c.576C>T	c.(574-576)ttC>ttT	p.F192F	MTUS2_ENST00000431530.3_Silent_p.F1223F|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Silent_p.F102F	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1213						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCGCCGCTTCGAAGAGGCCT	0.617																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(3667-3669)ttC>ttT		microtubule associated tumor suppressor candidate 2							32.0	41.0	38.0					13																	30071434		2092	4234	6326	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:30071434C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.576C>T	13.37:g.30071434C>T						MTUS2_ENST00000380808.2_Silent_p.F192F|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Silent_p.F102F	p.F1223F	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			11	3727	+			1213					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000380808.2	37	c.3669C>T	CCDS41874.1																																																																																				0.617	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270		6	14	0	0	0	1	0	6	14				
SAGE1	55511	broad.mit.edu	37	X	134995041	134995041	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134995041C>T	ENST00000370709.3	+	19	2700	c.2700C>T	c.(2698-2700)caC>caT	p.H900H	SAGE1_ENST00000535938.1_Silent_p.H900H|SAGE1_ENST00000537770.1_Silent_p.H524H|SAGE1_ENST00000324447.3_Silent_p.H900H			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	900						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAGTTAAGCACATGAGAAAAA	0.378																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2698-2700)caC>caT		sarcoma antigen 1							41.0	35.0	37.0					X																	134995041		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134995041C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2700C>T	X.37:g.134995041C>T						SAGE1_ENST00000324447.3_Silent_p.H900H|SAGE1_ENST00000537770.1_Silent_p.H524H|SAGE1_ENST00000370709.3_Silent_p.H900H	p.H900H	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			20	2867	+	Acute lymphoblastic leukemia(192;0.000127)		900					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.2700C>T	CCDS14652.1																																																																																				0.378	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		3	16	0	0	0	1	0	3	16				
OR6M1	390261	broad.mit.edu	37	11	123677048	123677048	+	Missense_Mutation	SNP	A	A	T	rs575728733		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123677048A>T	ENST00000309154.2	-	1	47	c.10T>A	c.(10-12)Tgg>Agg	p.W4R		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ACAGTGCTCCAGTTTCCCATG	0.418																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(10-12)Tgg>Agg		olfactory receptor, family 6, subfamily M, member 1							61.0	56.0	58.0					11																	123677048		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123677048A>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.10T>A	11.37:g.123677048A>T	ENSP00000311038:p.Trp4Arg						p.W4R	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	47	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	4					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.10T>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	A	3.490	-0.104062	0.06967	.	.	ENSG00000196099	ENST00000309154	T	0.00487	7.05	3.57	-4.23	0.03789	.	1.233450	0.06272	U	0.695855	T	0.00210	0.0006	N	0.05306	-0.075	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.29852	-0.9998	10	0.34782	T	0.22	.	5.4898	0.16769	0.375:0.4168:0.2082:0.0	.	4	Q8NGM8	OR6M1_HUMAN	R	4	ENSP00000311038:W4R	ENSP00000311038:W4R	W	-	1	0	OR6M1	123182258	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.824000	0.04438	-0.769000	0.04620	-0.312000	0.09012	TGG		0.418	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		4	42	0	0	0	1	0	4	42				
HUWE1	10075	broad.mit.edu	37	X	53574798	53574798	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:53574798G>T	ENST00000342160.3	-	67	10929	c.10472C>A	c.(10471-10473)tCt>tAt	p.S3491Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.S3491Y|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3491	Thr-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ggtggtggtagatgtggttga	0.587																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(10471-10473)tCt>tAt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							99.0	76.0	84.0					X																	53574798		2203	4298	6501	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53574798G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10472C>A	X.37:g.53574798G>T	ENSP00000340648:p.Ser3491Tyr					HUWE1_ENST00000262854.6_Missense_Mutation_p.S3491Y|HUWE1_ENST00000474288.1_5'UTR	p.S3491Y			Q7Z6Z7	HUWE1_HUMAN			67	10929	-			3491			Thr-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10472C>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	-	12.03	1.815846	0.32145	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37752	1.18;1.18	5.23	5.23	0.72850	.	1.050840	0.07519	N	0.910324	T	0.27663	0.0680	N	0.08118	0	0.32122	N	0.587838	B;B	0.31351	0.214;0.32	B;B	0.31812	0.064;0.136	T	0.37526	-0.9702	10	0.62326	D	0.03	.	16.6725	0.85271	0.0:0.0:1.0:0.0	.	3491;3475	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Y	3491	ENSP00000340648:S3491Y;ENSP00000262854:S3491Y	ENSP00000262854:S3491Y	S	-	2	0	HUWE1	53591523	0.988000	0.35896	1.000000	0.80357	0.994000	0.84299	6.647000	0.74354	2.195000	0.70347	0.502000	0.49764	TCT		0.587	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		10	22	1	0	0.00621372	1	0.0064192	10	22				
TAS2R20	259295	broad.mit.edu	37	12	11150374	11150374	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:11150374G>A	ENST00000538986.1	-	1	100	c.101C>T	c.(100-102)gCc>gTc	p.A34V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	34					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTTGACCCAGGCAATGAAATT	0.368																																						ENST00000538986.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(100-102)gCc>gTc		taste receptor, type 2, member 20							38.0	42.0	41.0					12																	11150374		2203	4300	6503	SO:0001583	missense	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11150374G>A	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.101C>T	12.37:g.11150374G>A	ENSP00000441624:p.Ala34Val					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.A34V	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN			1	100	-			34					P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	c.101C>T	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	G	8.564	0.878390	0.17395	.	.	ENSG00000255837	ENST00000538986	T	0.00776	5.71	2.77	-1.48	0.08745	.	1.176710	0.06599	U	0.753385	T	0.01189	0.0039	L	0.36672	1.1	0.09310	N	1	P	0.42203	0.773	P	0.46885	0.53	T	0.47736	-0.9094	10	0.87932	D	0	.	6.1024	0.20055	0.0:0.1221:0.5684:0.3095	.	34	P59543	T2R20_HUMAN	V	34	ENSP00000441624:A34V	ENSP00000441624:A34V	A	-	2	0	TAS2R20	11041641	0.094000	0.21725	0.135000	0.22099	0.006000	0.05464	0.043000	0.13971	-0.429000	0.07329	-0.467000	0.05162	GCC		0.368	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		20	39	0	0	0	1	0	20	39				
ANPEP	290	broad.mit.edu	37	15	90349269	90349269	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:90349269G>A	ENST00000300060.6	-	2	859	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	182	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	ACTCCCCCTCGAACTCGCTGT	0.607																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(544-546)ttC>ttT		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						91.0	86.0	87.0					15																	90349269		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349269G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.546C>T	15.37:g.90349269G>A							p.F182F	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	859	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		182			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.546C>T	CCDS10356.1																																																																																				0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			10	107	0	0	0	1	0	10	107				
RERG	85004	broad.mit.edu	37	12	15262229	15262229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15262229C>A	ENST00000256953.2	-	5	751	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	RERG_ENST00000546331.1_Nonsense_Mutation_p.E120*|RERG_ENST00000538313.1_Nonsense_Mutation_p.E139*|RERG_ENST00000536465.1_Nonsense_Mutation_p.E139*	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	139					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CAAGCCAATTCTGTGGCCAGC	0.493																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(415-417)Gaa>Taa		RAS-like, estrogen-regulated, growth inhibitor							199.0	169.0	179.0					12																	15262229		2203	4300	6503	SO:0001587	stop_gained	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262229C>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.415G>T	12.37:g.15262229C>A	ENSP00000256953:p.Glu139*					RERG_ENST00000546331.1_Nonsense_Mutation_p.E120*|RERG_ENST00000536465.1_Nonsense_Mutation_p.E139*|RERG_ENST00000538313.1_Nonsense_Mutation_p.E139*	p.E139*	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	751	-			139					B2R9R0|B4DI02	Nonsense_Mutation	SNP	ENST00000256953.2	37	c.415G>T	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423392	0.83559	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	.	.	.	5.08	4.18	0.49190	.	0.190873	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.0443	0.53471	0.0:0.9148:0.0:0.0852	.	.	.	.	X	139;139;139;120	.	ENSP00000256953:E139X	E	-	1	0	RERG	15153496	1.000000	0.71417	0.290000	0.24890	0.873000	0.50193	6.037000	0.70956	2.526000	0.85167	0.655000	0.94253	GAA		0.493	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		5	128	1	0	0.000602214	1	0.000636035	5	128				
PRPF38B	55119	broad.mit.edu	37	1	109242061	109242061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109242061C>T	ENST00000370025.4	+	6	1329	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	PRPF38B_ENST00000370021.1_Nonsense_Mutation_p.R243*	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	354	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ggacagggatcgagaaagaga	0.468																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(727-729)Cga>Tga		pre-mRNA processing factor 38B							44.0	41.0	42.0					1																	109242061		2203	4300	6503	SO:0001587	stop_gained	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242061C>T	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1060C>T	1.37:g.109242061C>T	ENSP00000359042:p.Arg354*					PRPF38B_ENST00000370025.4_Nonsense_Mutation_p.R354*	p.R243*			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1364	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	354					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Nonsense_Mutation	SNP	ENST00000370025.4	37	c.727C>T	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	39	7.587187	0.98374	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	.	.	.	5.69	2.67	0.31697	.	0.056106	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2991	0.37833	0.4474:0.3236:0.2289:0.0	.	.	.	.	X	354;243	.	ENSP00000359038:R243X	R	+	1	2	PRPF38B	109043584	0.991000	0.36638	0.998000	0.56505	0.943000	0.58893	1.842000	0.39250	0.285000	0.22329	-0.293000	0.09583	CGA		0.468	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		6	48	0	0	0	1	0	6	48				
OGDHL	55753	broad.mit.edu	37	10	50943287	50943287	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50943287C>T	ENST00000374103.4	-	23	3105	c.3020G>A	c.(3019-3021)gGc>gAc	p.G1007D	OGDHL_ENST00000432695.1_Missense_Mutation_p.G798D|OGDHL_ENST00000419399.1_Missense_Mutation_p.G950D|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	1007					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AAATGTCTTGCCCTCAAAGGC	0.572																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(3019-3021)gGc>gAc		oxoglutarate dehydrogenase-like							100.0	98.0	99.0					10																	50943287		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50943287C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.3020G>A	10.37:g.50943287C>T	ENSP00000363216:p.Gly1007Asp					OGDHL_ENST00000419399.1_Missense_Mutation_p.G950D|OGDHL_ENST00000432695.1_Missense_Mutation_p.G798D|OGDHL_ENST00000490844.1_5'UTR	p.G1007D	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			23	3105	-			1007					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.3020G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597612	0.46318	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.05717	3.4;3.4;3.41	5.4	5.4	0.78164	.	0.062472	0.64402	D	0.000004	T	0.02727	0.0082	N	0.01352	-0.895	0.54753	D	0.999981	B;B;B	0.14012	0.009;0.005;0.002	B;B;B	0.17098	0.017;0.009;0.008	T	0.45687	-0.9244	10	0.06891	T	0.86	.	18.7651	0.91869	0.0:1.0:0.0:0.0	.	950;798;1007	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	D	1007;950;798	ENSP00000363216:G1007D;ENSP00000401356:G950D;ENSP00000390240:G798D	ENSP00000363216:G1007D	G	-	2	0	OGDHL	50613293	0.950000	0.32346	1.000000	0.80357	0.979000	0.70002	1.662000	0.37418	2.515000	0.84797	0.655000	0.94253	GGC		0.572	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		49	70	0	0	0	1	0	49	70				
CACNA1I	8911	broad.mit.edu	37	22	40015325	40015325	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:40015325T>C	ENST00000402142.3	+	4	493	c.493T>C	c.(493-495)Tac>Cac	p.Y165H	CACNA1I_ENST00000336649.4_Missense_Mutation_p.Y165H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.Y165H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.Y165H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	165					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GATGGTCGAGTACTCCCTGGA	0.642																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(493-495)Tac>Cac		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						102.0	102.0	102.0					22																	40015325		2172	4271	6443	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40015325T>C	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.493T>C	22.37:g.40015325T>C	ENSP00000385019:p.Tyr165His					CACNA1I_ENST00000401624.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.Y165H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.Y165H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.Y165H	p.Y165H			Q9P0X4	CAC1I_HUMAN			6	493	+	Melanoma(58;0.0749)		165					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.493T>C	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	-	23.5	4.425606	0.83667	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.06	5.06	0.68205	Ion transport (1);	0.000000	0.64402	D	0.000012	D	0.99184	0.9717	H	0.94542	3.55	0.44454	D	0.997386	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	D;D;D;D	0.91635	0.99;0.989;0.99;0.999	D	0.99201	1.0873	10	0.59425	D	0.04	.	13.7911	0.63140	0.0:0.0:0.0:1.0	.	165;165;165;165	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	165	ENSP00000385019:Y165H;ENSP00000384093:Y165H;ENSP00000383887:Y165H;ENSP00000385680:Y165H;ENSP00000337829:Y165H;ENSP00000383028:Y165H	ENSP00000337829:Y165H	Y	+	1	0	CACNA1I	38345271	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.604000	0.67626	1.912000	0.55364	0.454000	0.30748	TAC		0.642	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		7	114	0	0	0	1	0	7	114				
NEUROG2	63973	broad.mit.edu	37	4	113436535	113436535	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113436535G>A	ENST00000313341.3	-	2	423	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	33					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CTGGATGACAGCGGGGTCAGG	0.701																																						ENST00000313341.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(97-99)Ctg>Ttg		neurogenin 2							23.0	24.0	23.0					4																	113436535		2125	4132	6257	SO:0001819	synonymous_variant	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436535G>A	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.97C>T	4.37:g.113436535G>A							p.L33L	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	423	-		Ovarian(17;0.156)	33					Q8N416	Silent	SNP	ENST00000313341.3	37	c.97C>T	CCDS3698.1																																																																																				0.701	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		9	26	0	0	0	1	0	9	26				
BNIP3L	665	broad.mit.edu	37	8	26237612	26237612	+	5'Flank	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:26237612G>T	ENST00000380629.2	+	0	0				SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		GCTTACCCCAGAATTTCTTCT	0.408																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:26237612G>T	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26237612G>T	Exception_encountered													0	2336	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.408	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		12	30	1	0	6.40141e-05	1	6.95424e-05	12	30				
ZNF91	7644	broad.mit.edu	37	19	23543617	23543617	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23543617C>T	ENST00000300619.7	-	4	2369	c.2164G>A	c.(2164-2166)Gct>Act	p.A722T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.A690T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	722					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CGATTAAAAGCTTTGCCACAT	0.338																																						ENST00000300619.7																			0											c.(2164-2166)Gct>Act		zinc finger protein 91							19.0	19.0	19.0					19																	23543617		1875	4059	5934	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543617C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2164G>A	19.37:g.23543617C>T	ENSP00000300619:p.Ala722Thr					ZNF91_ENST00000397082.2_Missense_Mutation_p.A690T|ZNF91_ENST00000599743.1_Intron	p.A722T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2369	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	722					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2164G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	2.938	-0.219450	0.06061	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.36157	1.27;1.27	1.86	-3.72	0.04411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15176	0.0366	N	0.12663	0.25	0.09310	N	1	B;B	0.21606	0.058;0.026	B;B	0.16289	0.009;0.015	T	0.15723	-1.0427	9	0.33141	T	0.24	.	3.2127	0.06689	0.439:0.2732:0.0:0.2879	.	690;722	Q05481-2;Q05481	.;ZNF91_HUMAN	T	722;690	ENSP00000300619:A722T;ENSP00000380272:A690T	ENSP00000300619:A722T	A	-	1	0	ZNF91	23335457	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.162000	0.03141	-1.062000	0.03181	0.205000	0.17691	GCT		0.338	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		7	19	0	0	0	1	0	7	19				
KAL1	3730	broad.mit.edu	37	X	8553380	8553380	+	Nonsense_Mutation	SNP	G	G	A	rs137852516		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:8553380G>A	ENST00000262648.3	-	6	933	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	262	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> P (in HH1; phenotype consistent with Kallmann syndrome). {ECO:0000269|PubMed:15605412}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GCAGCCACTCGAAACTGGTAC	0.512																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32	GRCh37	CM021282	KAL1	M	rs137852516	c.(784-786)Cga>Tga		Kallmann syndrome 1 sequence							179.0	125.0	143.0					X																	8553380		2203	4300	6503	SO:0001587	stop_gained	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8553380G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.784C>T	X.37:g.8553380G>A	ENSP00000262648:p.Arg262*						p.R262*	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			6	933	-			262		R -> P (in KAL1).	Fibronectin type-III 1.		B2RPF8	Nonsense_Mutation	SNP	ENST00000262648.3	37	c.784C>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	37	6.340671	0.97489	.	.	ENSG00000011201	ENST00000262648	.	.	.	3.74	3.74	0.42951	.	0.132039	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7046	0.40207	0.0:0.0:0.7931:0.2069	.	.	.	.	X	262	.	ENSP00000262648:R262X	R	-	1	2	KAL1	8513380	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	3.498000	0.53302	1.488000	0.48433	0.594000	0.82650	CGA		0.512	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		28	37	0	0	0	1	0	28	37				
ZIM3	114026	broad.mit.edu	37	19	57646993	57646993	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57646993G>T	ENST00000269834.1	-	5	1097	c.712C>A	c.(712-714)Ctc>Atc	p.L238I	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTGAAAGAGATTTGACTTC	0.403																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(712-714)Ctc>Atc		zinc finger, imprinted 3							130.0	128.0	129.0					19																	57646993		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646993G>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.712C>A	19.37:g.57646993G>T	ENSP00000269834:p.Leu238Ile						p.L238I	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1097	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	238					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.712C>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	9.884	1.202411	0.22121	.	.	ENSG00000141946	ENST00000269834	T	0.53857	0.6	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75752	0.3892	M	0.91972	3.26	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63866	-0.6540	9	0.66056	D	0.02	.	10.7175	0.46021	0.0:0.0:1.0:0.0	.	238	Q96PE6	ZIM3_HUMAN	I	238	ENSP00000269834:L238I	ENSP00000269834:L238I	L	-	1	0	ZIM3	62338805	0.425000	0.25498	0.006000	0.13384	0.219000	0.24729	1.120000	0.31271	1.392000	0.46585	0.313000	0.20887	CTC		0.403	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			28	51	1	0	4.87955e-14	1	6.31333e-14	28	51				
AMPD2	271	broad.mit.edu	37	1	110163640	110163640	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110163640G>T	ENST00000256578.3	+	1	365	c.5G>T	c.(4-6)aGa>aTa	p.R2I	AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000528454.1_5'Flank|AMPD2_ENST00000358729.4_5'Flank|AMPD2_ENST00000342115.4_Intron|AMPD2_ENST00000528667.1_Missense_Mutation_p.R2I	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	2					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GACAACATGAGAAATCGTGGC	0.647																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(4-6)aGa>aTa		adenosine monophosphate deaminase 2							21.0	21.0	21.0					1																	110163640		1963	3962	5925	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110163640G>T	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.5G>T	1.37:g.110163640G>T	ENSP00000256578:p.Arg2Ile					AMPD2_ENST00000528667.1_Missense_Mutation_p.R2I|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000342115.4_Intron	p.R2I	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	1	365	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	2					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.5G>T	CCDS805.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141393	0.57044	.	.	ENSG00000116337	ENST00000528667;ENST00000256578	T;T	0.38722	1.12;1.12	4.83	3.91	0.45181	.	.	.	.	.	T	0.12987	0.0315	N	0.14661	0.345	0.54753	D	0.999981	B	0.15141	0.012	B	0.08055	0.003	T	0.08330	-1.0727	9	0.87932	D	0	-0.1353	8.0518	0.30583	0.1092:0.0:0.8908:0.0	.	2	Q01433	AMPD2_HUMAN	I	2	ENSP00000436541:R2I;ENSP00000256578:R2I	ENSP00000256578:R2I	R	+	2	0	AMPD2	109965163	0.827000	0.29292	0.840000	0.33206	0.729000	0.41735	2.191000	0.42640	2.237000	0.73441	0.313000	0.20887	AGA		0.647	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			10	14	1	0	0.00010058	1	0.000108553	10	14				
RRNAD1	51093	broad.mit.edu	37	1	156703223	156703223	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156703223G>A	ENST00000368216.4	+	5	1177	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	RRNAD1_ENST00000476229.1_Missense_Mutation_p.E60K|RRNAD1_ENST00000368218.4_Missense_Mutation_p.E183K	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	183						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GAAGAGCATCGAAGGGGATCA	0.597																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(547-549)Gaa>Aaa		ribosomal RNA adenine dimethylase domain containing 1							90.0	97.0	94.0					1																	156703223		2203	4300	6503	SO:0001583	missense	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156703223G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.547G>A	1.37:g.156703223G>A	ENSP00000357199:p.Glu183Lys					RRNAD1_ENST00000476229.1_Missense_Mutation_p.E60K|RRNAD1_ENST00000368218.4_Missense_Mutation_p.E183K	p.E183K	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			5	1177	+			183					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.547G>A	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030272	0.93575	.	.	ENSG00000143303	ENST00000368218;ENST00000368216;ENST00000519086;ENST00000484742;ENST00000476229	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.75	4.75	0.60458	Ribosomal RNA adenine methylase transferase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	M	0.90870	3.155	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.78339	-0.2242	10	0.72032	D	0.01	-10.3931	16.4887	0.84193	0.0:0.0:1.0:0.0	.	183;183	Q4VX71;Q96FB5	.;RRNAD_HUMAN	K	183;183;162;81;60	ENSP00000357201:E183K;ENSP00000357199:E183K;ENSP00000429756:E162K;ENSP00000429053:E81K	ENSP00000357199:E183K	E	+	1	0	RRNAD1	154969847	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.476000	0.81055	2.490000	0.84030	0.561000	0.74099	GAA		0.597	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		29	76	0	0	0	1	0	29	76				
OR5K1	26339	broad.mit.edu	37	3	98188696	98188696	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98188696T>G	ENST00000332650.5	+	1	373	c.276T>G	c.(274-276)atT>atG	p.I92M		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAAAAGGATTTCCCTCTATG	0.433																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(274-276)atT>atG		olfactory receptor, family 5, subfamily K, member 1							162.0	170.0	167.0					3																	98188696		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188696T>G	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.276T>G	3.37:g.98188696T>G	ENSP00000373193:p.Ile92Met						p.I92M	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	373	+			92					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.276T>G	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293226	0.23564	.	.	ENSG00000232382	ENST00000332650	T	0.06768	3.26	5.18	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.518173	0.15926	N	0.237888	T	0.19127	0.0459	M	0.76328	2.33	0.20489	N	0.999893	D	0.55385	0.971	P	0.59595	0.86	T	0.08186	-1.0734	10	0.72032	D	0.01	-7.9811	4.3705	0.11246	0.3047:0.0884:0.0:0.6069	.	92	Q8NHB7	OR5K1_HUMAN	M	92	ENSP00000373193:I92M	ENSP00000373193:I92M	I	+	3	3	OR5K1	99671386	0.001000	0.12720	0.538000	0.28064	0.052000	0.14988	-1.444000	0.02403	-0.016000	0.14127	0.460000	0.39030	ATT		0.433	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			65	109	0	0	0	1	0	65	109				
APC	324	broad.mit.edu	37	5	112177901	112177901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112177901C>T	ENST00000457016.1	+	16	6990	c.6610C>T	c.(6610-6612)Cga>Tga	p.R2204*	APC_ENST00000257430.4_Nonsense_Mutation_p.R2204*|APC_ENST00000508376.2_Nonsense_Mutation_p.R2204*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2204	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGAAAAGTTCGATCTAATTC	0.363		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(6610-6612)Cga>Tga		adenomatous polyposis coli							61.0	67.0	65.0					5																	112177901		2168	4295	6463	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112177901C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6610C>T	5.37:g.112177901C>T	ENSP00000413133:p.Arg2204*	TSP Lung(16;0.13)				APC_ENST00000508376.2_Nonsense_Mutation_p.R2204*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R2204*	p.R2204*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	6990	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2204			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.6610C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	43	10.353506	0.99389	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0302	16.353	0.83224	0.133:0.867:0.0:0.0	.	.	.	.	X	2204	.	.	R	+	1	2	APC	112205800	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	2.031000	0.41117	1.462000	0.47948	0.585000	0.79938	CGA		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		22	48	0	0	0	1	0	22	48				
ZNF474	133923	broad.mit.edu	37	5	121487801	121487801	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121487801C>A	ENST00000296600.4	+	2	499	c.116C>A	c.(115-117)tCt>tAt	p.S39Y	CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	39							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GACTCCTATTCTAGCCTTTCC	0.383																																						ENST00000296600.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21						c.(115-117)tCt>tAt		zinc finger protein 474							94.0	101.0	99.0					5																	121487801		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121487801C>A	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.116C>A	5.37:g.121487801C>A	ENSP00000296600:p.Ser39Tyr					CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	p.S39Y	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	499	+		all_cancers(142;0.229)|Prostate(80;0.0387)	39					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.116C>A	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	3.730	-0.055683	0.07362	.	.	ENSG00000164185	ENST00000296600;ENST00000504912	T	0.54071	0.59	5.26	1.1	0.20463	.	0.498887	0.16389	U	0.216527	T	0.43722	0.1260	L	0.32530	0.975	0.09310	N	1	D	0.57899	0.981	P	0.48840	0.592	T	0.29305	-1.0016	10	0.59425	D	0.04	-6.5564	6.3659	0.21455	0.1179:0.4629:0.3466:0.0725	.	39	Q6S9Z5	ZN474_HUMAN	Y	39	ENSP00000296600:S39Y	ENSP00000296600:S39Y	S	+	2	0	ZNF474	121515700	0.001000	0.12720	0.000000	0.03702	0.079000	0.17450	0.284000	0.18864	0.276000	0.22118	0.655000	0.94253	TCT		0.383	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		49	59	1	0	2.46787e-29	1	3.51135e-29	49	59				
ZBTB20	26137	broad.mit.edu	37	3	114057897	114057897	+	Silent	SNP	G	G	A	rs539937857		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:114057897G>A	ENST00000474710.1	-	5	2359	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	ZBTB20_ENST00000464560.1_Silent_p.I654I|ZBTB20_ENST00000481632.1_Silent_p.I654I|ZBTB20_ENST00000462705.1_Silent_p.I654I|ZBTB20_ENST00000393785.2_Silent_p.I654I|ZBTB20_ENST00000357258.3_Silent_p.I654I|ZBTB20_ENST00000471418.1_Silent_p.I654I	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	727						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGAACTGCTCGATTTGGTCAA	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18291	0.0		0.0	False		,,,				2504	0.0				NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1960-1962)atC>atT		zinc finger and BTB domain containing 20							80.0	78.0	79.0					3																	114057897		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114057897G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2181C>T	3.37:g.114057897G>A						ZBTB20_ENST00000357258.3_Silent_p.I654I|ZBTB20_ENST00000474710.1_Silent_p.I727I|ZBTB20_ENST00000393785.2_Silent_p.I654I|ZBTB20_ENST00000481632.1_Silent_p.I654I|ZBTB20_ENST00000471418.1_Silent_p.I654I|ZBTB20_ENST00000464560.1_Silent_p.I654I	p.I654I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2783	-			727					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1962C>T	CCDS54626.1																																																																																				0.522	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		29	63	0	0	0	1	0	29	63				
MAP2	4133	broad.mit.edu	37	2	210557675	210557675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210557675G>T	ENST00000360351.4	+	7	1287	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E257*	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	261					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AACTCCAAAAGAACAAAAGGA	0.498																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(781-783)Gaa>Taa		microtubule-associated protein 2	Estramustine(DB01196)						60.0	62.0	61.0					2																	210557675		2203	4300	6503	SO:0001587	stop_gained	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210557675G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.781G>T	2.37:g.210557675G>T	ENSP00000353508:p.Glu261*					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E257*|MAP2_ENST00000392194.1_Intron	p.E261*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1287	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	261					Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	ENST00000360351.4	37	c.781G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590273	0.86851	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	.	.	.	5.98	5.1	0.69264	.	0.341957	0.25114	N	0.033039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.8955	15.7043	0.77565	0.0:0.1359:0.8641:0.0	.	.	.	.	X	261;343;257	.	ENSP00000353508:E261X	E	+	1	0	MAP2	210265920	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.758000	0.55220	1.527000	0.49086	-0.165000	0.13383	GAA		0.498	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		24	57	1	0	1.10923e-09	1	1.34134e-09	24	57				
ZNF705A	440077	broad.mit.edu	37	12	8329731	8329731	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8329731C>A	ENST00000359286.4	+	5	544	c.455C>A	c.(454-456)tCt>tAt	p.S152Y		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGTGGAAAATCTCTTCGTAAT	0.358																																						ENST00000359286.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18						c.(454-456)tCt>tAt		zinc finger protein 705A							152.0	161.0	158.0					12																	8329731		2203	4300	6503	SO:0001583	missense	440077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:8329731C>A	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"""Zinc fingers, C2H2-type"", ""-"""	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.455C>A	12.37:g.8329731C>A	ENSP00000352233:p.Ser152Tyr						p.S152Y	NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN		Kidney(36;0.0877)	5	544	+			152						Missense_Mutation	SNP	ENST00000359286.4	37	c.455C>A	CCDS31737.1	.	.	.	.	.	.	.	.	.	.	.	3.739	-0.053893	0.07362	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.08193	3.12;3.12	1.35	1.35	0.21983	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	M	0.71871	2.18	0.09310	N	1	P	0.46064	0.872	B	0.39531	0.302	T	0.24154	-1.0168	9	0.72032	D	0.01	.	5.5258	0.16957	0.0:0.6441:0.3558:0.0	.	152	Q6ZN79	Z705A_HUMAN	Y	152	ENSP00000379816:S152Y;ENSP00000352233:S152Y	ENSP00000352233:S152Y	S	+	2	0	ZNF705A	8220998	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	0.087000	0.14958	1.078000	0.41014	0.400000	0.26472	TCT		0.358	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		13	170	1	0	0.000151284	1	0.00016287	13	170				
OR5P2	120065	broad.mit.edu	37	11	7817521	7817521	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7817521C>A	ENST00000329434.2	-	1	999	c.969G>T	c.(967-969)taG>taT	p.*323Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGATAGGGTTCTATGTAATAT	0.348																																						ENST00000329434.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(967-969)taG>taT		olfactory receptor, family 5, subfamily P, member 2							89.0	125.0	113.0					11																	7817521		2109	4292	6401	SO:0001578	stop_lost	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7817521C>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.969G>T	11.37:g.7817521C>A						RP11-35J10.5_ENST00000527565.1_lincRNA	p.*323Y	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	999	-			0					Q3MIS8	Nonstop_Mutation	SNP	ENST00000329434.2	37	c.969G>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.880313	0.00537	.	.	ENSG00000183303	ENST00000329434	.	.	.	0.954	-1.91	0.07641	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.7971	0.03063	0.2767:0.3102:0.0:0.4131	.	.	.	.	Y	323	.	.	X	-	3	2	OR5P2	7774097	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.008000	0.01456	-1.112000	0.02984	-0.376000	0.06991	TAG		0.348	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		33	65	1	0	1.06647e-15	1	1.40869e-15	33	65				
GLB1L3	112937	broad.mit.edu	37	11	134147599	134147599	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134147599A>C	ENST00000431683.2	+	3	155	c.155A>C	c.(154-156)aAt>aCt	p.N52T	GLB1L3_ENST00000389887.5_Missense_Mutation_p.N52T	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	52					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCAGGTTTAATTGGTCTCAT	0.562																																						ENST00000389887.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(154-156)aAt>aCt		galactosidase, beta 1-like 3							29.0	31.0	30.0					11																	134147599		2029	4212	6241	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134147599A>C		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.155A>C	11.37:g.134147599A>C	ENSP00000396615:p.Asn52Thr					GLB1L3_ENST00000431683.2_Missense_Mutation_p.N52T	p.N52T			Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	3	2651	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	52					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.155A>C	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359989	0.61403	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97066	-4.15;-4.23	5.06	2.72	0.32119	.	.	.	.	.	D	0.93501	0.7926	N	0.08118	0	0.09310	N	1	P;B	0.43024	0.798;0.444	P;B	0.52109	0.69;0.356	D	0.87353	0.2339	9	0.72032	D	0.01	.	4.8842	0.13696	0.7454:0.0:0.0908:0.1639	.	52;52	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	T	52	ENSP00000374537:N52T;ENSP00000396615:N52T	ENSP00000374537:N52T	N	+	2	0	GLB1L3	133652809	0.404000	0.25328	0.000000	0.03702	0.013000	0.08279	2.353000	0.44089	0.493000	0.27837	0.477000	0.44152	AAT		0.562	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		4	9	0	0	0	1	0	4	9				
MT-ND5	4540	broad.mit.edu	37	M	13145	13145	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrM:13145G>A	ENST00000361567.2	+	1	809	c.809G>A	c.(808-810)aGc>aAc	p.S270N	MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	270					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						AGCAGAAAATAGCCCACTAAT	0.483																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(808-810)aGc>aAc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13145G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.809G>A	M.37:g.13145G>A	ENSP00000354813:p.Ser270Asn						p.S270N			P03915	NU5M_HUMAN			1	809	+			270					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.809G>A																																																																																					0.483	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		11	197	0	0	0	1	0	11	197				
POMC	5443	broad.mit.edu	37	2	25387575	25387575	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25387575C>T	ENST00000405623.1	-	2	522	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	POMC_ENST00000395826.2_Missense_Mutation_p.E23K|POMC_ENST00000264708.3_Missense_Mutation_p.E23K|POMC_ENST00000380794.1_Missense_Mutation_p.E23K			P01189	COLI_HUMAN	proopiomelanocortin	23					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	CCACGCACTTCCATGGAGGCC	0.617																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(67-69)Gaa>Aaa		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						61.0	61.0	61.0					2																	25387575		2203	4300	6503	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25387575C>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.67G>A	2.37:g.25387575C>T	ENSP00000384092:p.Glu23Lys					POMC_ENST00000264708.3_Missense_Mutation_p.E23K|POMC_ENST00000395826.2_Missense_Mutation_p.E23K|POMC_ENST00000380794.1_Missense_Mutation_p.E23K	p.E23K			P01189	COLI_HUMAN			2	522	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		23					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.67G>A	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379953	0.61845	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.34	5.34	0.76211	.	0.303719	0.35525	N	0.003149	T	0.78078	0.4227	L	0.60455	1.87	0.36058	D	0.84123	P	0.40970	0.734	B	0.40329	0.326	D	0.84056	0.0372	10	0.56958	D	0.05	-16.9059	12.4297	0.55567	0.0:0.9177:0.0:0.0823	.	23	P01189	COLI_HUMAN	K	23	ENSP00000370171:E23K;ENSP00000384092:E23K;ENSP00000264708:E23K;ENSP00000379170:E23K;ENSP00000387993:E23K	ENSP00000264708:E23K	E	-	1	0	POMC	25241079	0.855000	0.29742	1.000000	0.80357	0.980000	0.70556	3.520000	0.53465	2.657000	0.90304	0.462000	0.41574	GAA		0.617	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		31	65	0	0	0	1	0	31	65				
KLHL15	80311	broad.mit.edu	37	X	24006621	24006621	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24006621G>A	ENST00000328046.8	-	4	1487	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	411					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AACTGGATAAGGATCCACAAA	0.428																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(1231-1233)cCt>cTt		kelch-like family member 15							180.0	147.0	158.0					X																	24006621		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24006621G>A	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1232C>T	X.37:g.24006621G>A	ENSP00000332791:p.Pro411Leu						p.P411L	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			4	1487	-			411					Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.1232C>T	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405772	0.62288	.	.	ENSG00000174010	ENST00000328046	T	0.69806	-0.43	5.49	5.49	0.81192	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.86335	0.5908	H	0.94423	3.535	0.80722	D	1	D	0.63046	0.992	D	0.63033	0.91	D	0.90238	0.4284	10	0.87932	D	0	.	18.6167	0.91305	0.0:0.0:1.0:0.0	.	411	Q96M94	KLH15_HUMAN	L	411	ENSP00000332791:P411L	ENSP00000332791:P411L	P	-	2	0	KLHL15	23916542	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	9.226000	0.95229	2.426000	0.82243	0.506000	0.49869	CCT		0.428	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		44	68	0	0	0	1	0	44	68				
MAP1B	4131	broad.mit.edu	37	5	71491928	71491928	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71491928G>A	ENST00000296755.7	+	5	3044	c.2746G>A	c.(2746-2748)Gag>Aag	p.E916K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	916					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAGCCCGTCGAGAAGCAGGG	0.502																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2746-2748)Gag>Aag		microtubule-associated protein 1B							69.0	75.0	73.0					5																	71491928		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491928G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2746G>A	5.37:g.71491928G>A	ENSP00000296755:p.Glu916Lys						p.E916K	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3044	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	916					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2746G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519860	0.44866	.	.	ENSG00000131711	ENST00000296755	T	0.03607	3.87	5.44	5.44	0.79542	.	0.099289	0.44902	D	0.000406	T	0.03564	0.0102	L	0.42245	1.32	0.44302	D	0.997176	P;P	0.48640	0.913;0.913	B;B	0.31390	0.129;0.129	T	0.56739	-0.7929	10	0.09590	T	0.72	-15.1921	19.2467	0.93905	0.0:0.0:1.0:0.0	.	790;916	A2BDK6;P46821	.;MAP1B_HUMAN	K	916	ENSP00000296755:E916K	ENSP00000296755:E916K	E	+	1	0	MAP1B	71527684	1.000000	0.71417	0.944000	0.38274	0.082000	0.17680	7.244000	0.78228	2.557000	0.86248	0.591000	0.81541	GAG		0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		7	134	0	0	0	1	0	7	134				
DCAF16	54876	broad.mit.edu	37	4	17805494	17805494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17805494G>A	ENST00000382247.1	-	3	1331	c.271C>T	c.(271-273)Cga>Tga	p.R91*	DCAF16_ENST00000536863.1_Nonsense_Mutation_p.R91*|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	91					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						CCTATCTCTCGAAGTATATGG	0.448																																						ENST00000382247.1																			0				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(271-273)Cga>Tga		DDB1 and CUL4 associated factor 16							93.0	103.0	100.0					4																	17805494		2203	4300	6503	SO:0001587	stop_gained	54876					CUL4 RING ubiquitin ligase complex		g.chr4:17805494G>A	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"""DDB1 and CUL4 associated factors"""	25987	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 30"""	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.271C>T	4.37:g.17805494G>A	ENSP00000371682:p.Arg91*					DCAF16_ENST00000536863.1_Nonsense_Mutation_p.R91*	p.R91*	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN			3	1331	-			91					B3KPB7	Nonsense_Mutation	SNP	ENST00000382247.1	37	c.271C>T	CCDS3423.1	.	.	.	.	.	.	.	.	.	.	G	40	8.192091	0.98699	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	.	.	.	4.03	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.4362	6.5943	0.22664	0.2111:0.0:0.7889:0.0	.	.	.	.	X	91	.	ENSP00000371682:R91X	R	-	1	2	DCAF16	17414592	0.993000	0.37304	0.990000	0.47175	0.039000	0.13416	1.007000	0.29860	0.668000	0.31126	-0.793000	0.03317	CGA		0.448	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		53	89	0	0	0	1	0	53	89				
PCSK1	5122	broad.mit.edu	37	5	95751803	95751803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95751803C>A	ENST00000311106.3	-	6	880	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Nonsense_Mutation_p.E168*	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	215	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATGGCAATTTCTCCTGCACAT	0.383																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(643-645)Gaa>Taa		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						152.0	143.0	146.0					5																	95751803		2203	4300	6503	SO:0001587	stop_gained	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95751803C>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.643G>T	5.37:g.95751803C>A	ENSP00000308024:p.Glu215*					PCSK1_ENST00000508626.1_Nonsense_Mutation_p.E168*|CTD-2337A12.1_ENST00000502645.2_RNA	p.E215*	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	6	880	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	215			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Nonsense_Mutation	SNP	ENST00000311106.3	37	c.643G>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	40	8.232555	0.98717	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.9157	20.2159	0.98296	0.0:1.0:0.0:0.0	.	.	.	.	X	215;168	.	ENSP00000308024:E215X	E	-	1	0	PCSK1	95777559	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.345000	0.79337	2.882000	0.98803	0.655000	0.94253	GAA		0.383	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		18	31	1	0	6.33239e-15	1	8.29613e-15	18	31				
HCN3	57657	broad.mit.edu	37	1	155252476	155252476	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155252476T>G	ENST00000368358.3	+	2	561	c.553T>G	c.(553-555)Tac>Gac	p.Y185D	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	185					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCTGTGGATTACATCTTCCT	0.597																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(553-555)Tac>Gac		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							87.0	79.0	82.0					1																	155252476		2203	4300	6503	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155252476T>G	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.553T>G	1.37:g.155252476T>G	ENSP00000357342:p.Tyr185Asp					HCN3_ENST00000496230.1_3'UTR	p.Y185D	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	561	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		185					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.553T>G	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477894	0.84747	.	.	ENSG00000143630	ENST00000368358	D	0.94330	-3.4	4.97	4.97	0.65823	Ion transport (1);	0.000000	0.45606	D	0.000354	D	0.94321	0.8175	M	0.80746	2.51	0.80722	D	1	P	0.42649	0.786	P	0.52031	0.688	D	0.95198	0.8314	10	0.87932	D	0	.	12.9252	0.58257	0.0:0.0:0.0:1.0	.	185	Q9P1Z3	HCN3_HUMAN	D	185	ENSP00000357342:Y185D	ENSP00000357342:Y185D	Y	+	1	0	HCN3	153519100	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.789000	0.85783	2.216000	0.71823	0.482000	0.46254	TAC		0.597	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		22	54	0	0	0	1	0	22	54				
KDM5C	8242	broad.mit.edu	37	X	53254069	53254069	+	Start_Codon_SNP	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:53254069C>T	ENST00000375401.3	-	1	535	c.3G>A	c.(1-3)atG>atA	p.M1I	KDM5C_ENST00000404049.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000375379.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000375383.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000452825.3_Start_Codon_SNP_p.M1I	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ACCCCGGCTCCATGGTGGGCC	0.652			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(1-3)atG>atA		lysine (K)-specific demethylase 5C							22.0	19.0	20.0					X																	53254069		2201	4297	6498	SO:0001582	initiator_codon_variant	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53254069C>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3G>A	X.37:g.53254069C>T	ENSP00000364550:p.Met1Ile					KDM5C_ENST00000375401.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000375379.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000375383.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000404049.3_Start_Codon_SNP_p.M1I	p.M1I	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			1	535	-			0					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Translation_Start_Site	SNP	ENST00000375401.3	37	c.3G>A	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	18.69	3.678921	0.68042	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.85629	-2.01;-1.78;-1.78;-1.78;-1.8	4.78	4.78	0.61160	.	0.171259	0.49916	D	0.000126	D	0.89319	0.6681	.	.	.	0.80722	D	1	P;P;P	0.50528	0.656;0.936;0.936	P;P;P	0.58172	0.584;0.834;0.834	D	0.89252	0.3591	9	0.49607	T	0.09	-25.4216	12.208	0.54363	0.0:1.0:0.0:0.0	.	1;1;1	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	I	1	ENSP00000445176:M1I;ENSP00000364550:M1I;ENSP00000385394:M1I;ENSP00000364528:M1I;ENSP00000364532:M1I	ENSP00000344004:M1I	M	-	3	0	KDM5C	53270794	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.817000	0.48034	2.370000	0.80446	0.597000	0.82753	ATG		0.652	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	Missense_Mutation	17	15	0	0	0	1	0	17	15				
INTS10	55174	broad.mit.edu	37	8	19709225	19709225	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19709225G>A	ENST00000397977.3	+	17	2440	c.2042G>A	c.(2041-2043)cGc>cAc	p.R681H		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	681					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GCCATGGAGCGCCAGGTCTCC	0.537																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(2041-2043)cGc>cAc		integrator complex subunit 10							106.0	108.0	108.0					8																	19709225		2056	4197	6253	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19709225G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.2042G>A	8.37:g.19709225G>A	ENSP00000381064:p.Arg681His						p.R681H	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	17	2440	+			681					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.2042G>A	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.064078|5.064078	0.93898|0.93898	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523772|ENST00000397977;ENST00000520670	.|.	.|.	.|.	5.56|5.56	4.68|4.68	0.58851|0.58851	.|.	.|0.095561	.|0.64402	.|D	.|0.000001	T|T	0.53384|0.53384	0.1793|0.1793	L|L	0.61218|0.61218	1.895|1.895	0.58432|0.58432	D|D	0.999994|0.999994	.|P	.|0.45768	.|0.866	.|B	.|0.37989	.|0.262	T|T	0.56450|0.56450	-0.7977|-0.7977	5|8	.|.	.|.	.|.	-15.6052|-15.6052	15.0965|15.0965	0.72238|0.72238	0.0:0.1427:0.8573:0.0|0.0:0.1427:0.8573:0.0	.|.	.|681	.|Q9NVR2	.|INT10_HUMAN	T|H	144|681;85	.|.	.|.	A|R	+|+	1|2	0|0	INTS10|INTS10	19753505|19753505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.397000|9.397000	0.97276|0.97276	1.316000|1.316000	0.45131|0.45131	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.537	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		27	60	0	0	0	1	0	27	60				
REV1	51455	broad.mit.edu	37	2	100019523	100019523	+	Missense_Mutation	SNP	C	C	A	rs1046340		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100019523C>A	ENST00000258428.3	-	20	3441	c.3213G>T	c.(3211-3213)aaG>aaT	p.K1071N	REV1_ENST00000393445.3_Missense_Mutation_p.K1070N|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1071					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						tgtttcttttcttttctttCA	0.383								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3211-3213)aaG>aaT	Direct reversal of damage	REV1, polymerase (DNA directed)							52.0	49.0	50.0					2																	100019523		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100019523C>A	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3213G>T	2.37:g.100019523C>A	ENSP00000258428:p.Lys1071Asn					REV1_ENST00000393445.3_Missense_Mutation_p.K1070N|REV1_ENST00000465835.1_5'UTR	p.K1071N	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			20	3441	-			1071					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.3213G>T	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.349900	0.41599	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.32753	1.44;1.44	5.95	3.2	0.36748	.	0.042710	0.85682	N	0.000000	T	0.49677	0.1571	M	0.71581	2.175	0.30452	N	0.775102	P;D	0.89917	0.808;1.0	B;D	0.91635	0.299;0.999	T	0.51196	-0.8736	10	0.21540	T	0.41	.	11.5511	0.50721	0.0:0.8056:0.0:0.1944	.	1071;1070	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	N	1070;1071	ENSP00000377091:K1070N;ENSP00000258428:K1071N	ENSP00000258428:K1071N	K	-	3	2	REV1	99385955	1.000000	0.71417	0.778000	0.31720	0.641000	0.38312	1.815000	0.38981	0.416000	0.25844	0.655000	0.94253	AAG		0.383	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		10	22	1	0	0.335167	1	0.336004	10	22				
DHH	50846	broad.mit.edu	37	12	49484166	49484166	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49484166C>A	ENST00000266991.2	-	3	973	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	223					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						AAAACCCAGTCTCCGCGGTGC	0.677																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(667-669)Gac>Tac		desert hedgehog							15.0	18.0	17.0					12																	49484166		2199	4291	6490	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49484166C>A	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.667G>T	12.37:g.49484166C>A	ENSP00000266991:p.Asp223Tyr					RP11-386G11.8_ENST00000553174.1_RNA	p.D223Y	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			3	973	-			223					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.667G>T	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050149	0.55218	.	.	ENSG00000139549	ENST00000266991	D	0.99607	-6.27	4.54	4.54	0.55810	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.046491	0.85682	D	0.000000	D	0.99616	0.9860	M	0.88704	2.975	0.54753	D	0.999988	D	0.76494	0.999	D	0.67900	0.954	D	0.97732	1.0203	10	0.87932	D	0	-6.4061	16.5904	0.84763	0.0:1.0:0.0:0.0	.	223	O43323	DHH_HUMAN	Y	223	ENSP00000266991:D223Y	ENSP00000266991:D223Y	D	-	1	0	DHH	47770433	0.852000	0.29690	0.945000	0.38365	0.906000	0.53458	1.944000	0.40263	2.542000	0.85734	0.561000	0.74099	GAC		0.677	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		5	14	1	0	0.217242	1	0.218251	5	14				
PELI3	246330	broad.mit.edu	37	11	66239872	66239872	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66239872G>A	ENST00000320740.7	+	5	547	c.387G>A	c.(385-387)tcG>tcA	p.S129S	PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000524466.1_Silent_p.S129S|PELI3_ENST00000349459.6_Silent_p.S105S|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	129					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ACAGCATCTCGTATACACTGT	0.532																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(313-315)tcG>tcA		pellino E3 ubiquitin protein ligase family member 3							203.0	153.0	170.0					11																	66239872		2200	4295	6495	SO:0001819	synonymous_variant	246330					cytosol	protein binding	g.chr11:66239872G>A	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.387G>A	11.37:g.66239872G>A						PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Silent_p.S129S|PELI3_ENST00000320740.7_Silent_p.S129S	p.S105S	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			4	599	+			129					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	c.315G>A	CCDS31615.1																																																																																				0.532	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		31	64	0	0	0	1	0	31	64				
SVOPL	136306	broad.mit.edu	37	7	138329467	138329467	+	Missense_Mutation	SNP	C	C	T	rs143599875		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138329467C>T	ENST00000419765.3	-	8	817	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	SVOPL_ENST00000288513.5_Missense_Mutation_p.V110I|SVOPL_ENST00000421622.1_Missense_Mutation_p.V142I|SVOPL_ENST00000436657.1_Missense_Mutation_p.V110I	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	262						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCACCAGGACGGGCTCCACC	0.637																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(424-426)Gtc>Atc		SVOP-like		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	37.0	36.0	37.0		784,328	-4.4	0.4	7	dbSNP_134	37	0,8600		0,0,4300	no	missense,missense	SVOPL	NM_001139456.1,NM_174959.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	262/493,110/341	138329467	1,13005	2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138329467C>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.784G>A	7.37:g.138329467C>T	ENSP00000405482:p.Val262Ile					SVOPL_ENST00000288513.5_Missense_Mutation_p.V110I|SVOPL_ENST00000436657.1_Missense_Mutation_p.V110I|SVOPL_ENST00000419765.3_Missense_Mutation_p.V262I	p.V142I			Q8N434	SVOPL_HUMAN			5	632	-			262						Missense_Mutation	SNP	ENST00000419765.3	37	c.424G>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836636	0.32421	2.27E-4	0.0	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.73681	-0.77;-0.77;-0.77;0.29	5.06	-4.43	0.03568	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.542720	0.03356	N	0.196885	T	0.62134	0.2403	N	0.21194	0.64	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.50259	-0.8849	10	0.37606	T	0.19	-8.9996	13.2742	0.60178	0.0:0.7788:0.1023:0.1189	.	262;110	Q8N434;Q8N434-2	SVOPL_HUMAN;.	I	110;142;110;262	ENSP00000288513:V110I;ENSP00000412830:V142I;ENSP00000417018:V110I;ENSP00000405482:V262I	ENSP00000288513:V110I	V	-	1	0	SVOPL	137980007	0.000000	0.05858	0.417000	0.26559	0.975000	0.68041	-0.819000	0.04462	-1.507000	0.01803	-0.827000	0.03088	GTC		0.637	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		16	49	0	0	0	1	0	16	49				
CHST10	9486	broad.mit.edu	37	2	101010188	101010188	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:101010188G>A	ENST00000264249.3	-	7	975	c.590C>T	c.(589-591)tCt>tTt	p.S197F	CHST10_ENST00000409701.1_Missense_Mutation_p.S197F|CHST10_ENST00000542617.1_Missense_Mutation_p.S245F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	197					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTTAAATGCAGAAATAAGTCT	0.393																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(589-591)tCt>tTt		carbohydrate sulfotransferase 10							68.0	72.0	71.0					2																	101010188		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010188G>A	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.590C>T	2.37:g.101010188G>A	ENSP00000264249:p.Ser197Phe					CHST10_ENST00000542617.1_Missense_Mutation_p.S245F|CHST10_ENST00000409701.1_Missense_Mutation_p.S197F	p.S197F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	975	-			197					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.590C>T	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019592	0.93462	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;D;T	0.93659	-1.18;-3.26;-1.18	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97840	1.0268	10	0.87932	D	0	-39.9067	20.6208	0.99490	0.0:0.0:1.0:0.0	.	197	O43529	CHSTA_HUMAN	F	197;245;197	ENSP00000264249:S197F;ENSP00000438869:S245F;ENSP00000387309:S197F	ENSP00000264249:S197F	S	-	2	0	CHST10	100376620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.624000	0.98398	2.882000	0.98803	0.655000	0.94253	TCT		0.393	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		30	57	0	0	0	1	0	30	57				
LRP1B	53353	broad.mit.edu	37	2	141081612	141081612	+	Missense_Mutation	SNP	C	C	T	rs201307818		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141081612C>T	ENST00000389484.3	-	81	13335	c.12364G>A	c.(12364-12366)Gat>Aat	p.D4122N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4122					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAAGATATCGATCCTATGT	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12364-12366)Gat>Aat		low density lipoprotein receptor-related protein 1B							50.0	56.0	54.0					2																	141081612		2202	4287	6489	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141081612C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12364G>A	2.37:g.141081612C>T	ENSP00000374135:p.Asp4122Asn	TSP Lung(27;0.18)					p.D4122N	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	81	13335	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4122					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12364G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178564	0.78564	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.170776	0.40222	U	0.001143	D	0.95456	0.8524	M	0.77313	2.365	0.51767	D	0.999939	D	0.89917	1.0	D	0.77557	0.99	D	0.94922	0.8074	10	0.52906	T	0.07	.	19.8182	0.96579	0.0:1.0:0.0:0.0	.	4122	Q9NZR2	LRP1B_HUMAN	N	4122;4060	ENSP00000374135:D4122N	ENSP00000374135:D4122N	D	-	1	0	LRP1B	140798082	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	7.469000	0.80959	2.687000	0.91594	0.563000	0.77884	GAT		0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	21	0	0	0	1	0	11	21				
TRMT5	57570	broad.mit.edu	37	14	61444313	61444313	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61444313T>C	ENST00000261249.6	-	3	1095	c.711A>G	c.(709-711)gtA>gtG	p.V237V	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTATTTTATTTACTGCTGAGG	0.313																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(709-711)gtA>gtG		tRNA methyltransferase 5							50.0	53.0	52.0					14																	61444313		2202	4293	6495	SO:0001819	synonymous_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61444313T>C	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.711A>G	14.37:g.61444313T>C						RP11-193F5.1_ENST00000553946.1_RNA	p.V237V	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	3	1095	-			237						Silent	SNP	ENST00000261249.6	37	c.711A>G	CCDS32092.1																																																																																				0.313	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081		14	23	0	0	0	1	0	14	23				
DOPEY1	23033	broad.mit.edu	37	6	83848209	83848209	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:83848209G>A	ENST00000349129.2	+	21	4708	c.4448G>A	c.(4447-4449)cGa>cAa	p.R1483Q	DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1464Q|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1474Q|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1483					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATAGGCAATCGAAACATGCAA	0.368																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4447-4449)cGa>cAa		dopey family member 1							86.0	92.0	90.0					6																	83848209		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83848209G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4448G>A	6.37:g.83848209G>A	ENSP00000195654:p.Arg1483Gln					DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1474Q|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1464Q|DOPEY1_ENST00000484282.1_3'UTR	p.R1483Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4708	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1483					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4448G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585218	0.46110	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.39056	1.1;1.1	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.42245	1.32	0.80722	D	1	D;D;D	0.64830	0.994;0.957;0.957	P;B;B	0.48368	0.575;0.357;0.357	T	0.16778	-1.0391	10	0.56958	D	0.05	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	1374;1474;1483	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	Q	1483;1464;1464	ENSP00000195654:R1483Q;ENSP00000237163:R1464Q	ENSP00000237163:R1464Q	R	+	2	0	DOPEY1	83904928	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.611000	0.82962	2.813000	0.96785	0.655000	0.94253	CGA		0.368	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		19	35	0	0	0	1	0	19	35				
USP29	57663	broad.mit.edu	37	19	57640183	57640183	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57640183T>G	ENST00000254181.4	+	4	594	c.140T>G	c.(139-141)tTt>tGt	p.F47C	USP29_ENST00000598197.1_Missense_Mutation_p.F47C	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	47					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTGGAAAATTTATAAGAATT	0.363																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(139-141)tTt>tGt		ubiquitin specific peptidase 29							44.0	48.0	47.0					19																	57640183		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640183T>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.140T>G	19.37:g.57640183T>G	ENSP00000254181:p.Phe47Cys					USP29_ENST00000598197.1_Missense_Mutation_p.F47C	p.F47C	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	594	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	47						Missense_Mutation	SNP	ENST00000254181.4	37	c.140T>G	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	4.325	0.059613	0.08339	.	.	ENSG00000131864	ENST00000254181	T	0.47177	0.85	2.59	-1.54	0.08584	.	3.800890	0.01128	U	0.005932	T	0.29652	0.0740	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12967	-1.0527	10	0.40728	T	0.16	0.8423	4.273	0.10796	0.1864:0.0:0.4821:0.3315	.	47	Q9HBJ7	UBP29_HUMAN	C	47	ENSP00000254181:F47C	ENSP00000254181:F47C	F	+	2	0	USP29	62331995	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.606000	0.05654	-0.419000	0.07439	0.482000	0.46254	TTT		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			9	25	0	0	0	1	0	9	25				
NRXN1	9378	broad.mit.edu	37	2	50724487	50724487	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:50724487C>T	ENST00000406316.2	-	14	4339	c.2863G>A	c.(2863-2865)Gtt>Att	p.V955I	NRXN1_ENST00000404971.1_Missense_Mutation_p.V995I|NRXN1_ENST00000405472.3_Missense_Mutation_p.V947I|NRXN1_ENST00000406859.3_Missense_Mutation_p.V955I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Missense_Mutation_p.V947I|NRXN1_ENST00000401669.2_Missense_Mutation_p.V955I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	955	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTAATTCAACCACAATAAAG	0.338																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2983-2985)Gtt>Att		neurexin 1							69.0	67.0	68.0					2																	50724487		1848	4097	5945	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50724487C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2863G>A	2.37:g.50724487C>T	ENSP00000384311:p.Val955Ile					NRXN1_ENST00000405472.3_Missense_Mutation_p.V947I|NRXN1_ENST00000406859.3_Missense_Mutation_p.V955I|NRXN1_ENST00000401669.2_Missense_Mutation_p.V955I|NRXN1_ENST00000402717.3_Missense_Mutation_p.V947I|NRXN1_ENST00000406316.2_Missense_Mutation_p.V955I|NRXN1_ENST00000331040.5_5'UTR	p.V995I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		15	4322	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	955			Laminin G-like 5.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2983G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467115	0.84533	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.58	5.58	0.84498	.	0.057162	0.64402	D	0.000001	T	0.67655	0.2916	N	0.20401	0.57	0.51482	D	0.999928	B;B;B	0.32507	0.373;0.011;0.08	B;B;B	0.33750	0.169;0.016;0.084	T	0.62955	-0.6744	10	0.21540	T	0.41	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	995;955;947	Q9ULB1-3;F8WB18;A7E294	.;.;.	I	995;955;947;955;996;947;955	ENSP00000385142:V995I;ENSP00000384311:V955I;ENSP00000434015:V947I;ENSP00000385017:V955I;ENSP00000385434:V947I;ENSP00000385681:V955I	ENSP00000385017:V955I	V	-	1	0	NRXN1	50577991	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.912000	0.69948	2.906000	0.99361	0.655000	0.94253	GTT		0.338	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	37	0	0	0	1	0	4	37				
NCKAP1	10787	broad.mit.edu	37	2	183821229	183821229	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183821229C>T	ENST00000361354.4	-	20	2486	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R711Q	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	705					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)			CAAATATTCTCGTGGGGTAAA	0.333																																						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.(2131-2133)cGa>cAa		NCK-associated protein 1							107.0	107.0	107.0					2																	183821229		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183821229C>T	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.2114G>A	2.37:g.183821229C>T	ENSP00000355348:p.Arg705Gln					NCKAP1_ENST00000361354.3_Missense_Mutation_p.R705Q	p.R711Q	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		21	2890	-			705					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2132G>A	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404240	0.96051	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.35973	1.28;1.28	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.83012	2.62	0.80722	D	1	D;D	0.64830	0.994;0.992	P;P	0.55713	0.782;0.675	T	0.66952	-0.5793	10	0.59425	D	0.04	-5.9989	17.4209	0.87515	0.0:1.0:0.0:0.0	.	705;711	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	Q	705;711	ENSP00000355348:R705Q;ENSP00000354251:R711Q	ENSP00000354251:R711Q	R	-	2	0	NCKAP1	183529474	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.747000	0.85070	2.100000	0.63781	0.650000	0.86243	CGA		0.333	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		25	36	0	0	0	1	0	25	36				
HLTF	6596	broad.mit.edu	37	3	148768120	148768120	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148768120A>C	ENST00000310053.5	-	15	1709	c.1516T>G	c.(1516-1518)Ttt>Gtt	p.F506V	HLTF_ENST00000494055.1_Missense_Mutation_p.F506V|HLTF_ENST00000465259.1_Missense_Mutation_p.F505V|HLTF_ENST00000392912.2_Missense_Mutation_p.F506V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	506	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TAAACATAAAAATTCAAGTGT	0.303																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1516-1518)Ttt>Gtt		helicase-like transcription factor							68.0	70.0	69.0					3																	148768120		2201	4292	6493	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148768120A>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1516T>G	3.37:g.148768120A>C	ENSP00000308944:p.Phe506Val					HLTF_ENST00000494055.1_Missense_Mutation_p.F506V|HLTF_ENST00000392912.2_Missense_Mutation_p.F506V|HLTF_ENST00000465259.1_Missense_Mutation_p.F505V	p.F506V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		15	1709	-			506			Helicase ATP-binding.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1516T>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	A	3.894	-0.023370	0.07634	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.73	4.54	0.55810	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	T	0.65428	0.2690	N	0.00670	-1.27	0.36034	D	0.839596	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.13407	0.006;0.009;0.009	T	0.63528	-0.6617	9	0.02654	T	1	-0.007	4.358	0.11188	0.6961:0.0:0.1575:0.1464	.	506;506;506	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	V	505;506;506;506	ENSP00000420745:F505V;ENSP00000308944:F506V;ENSP00000376644:F506V;ENSP00000420429:F506V	ENSP00000308944:F506V	F	-	1	0	HLTF	150250810	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.866000	0.27954	0.948000	0.37687	0.528000	0.53228	TTT		0.303	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			16	32	0	0	0	1	0	16	32				
DYX1C1	161582	broad.mit.edu	37	15	55759161	55759161	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55759161T>G	ENST00000321149.3	-	5	971	c.604A>C	c.(604-606)Aga>Cga	p.R202R	DYX1C1_ENST00000457155.2_Silent_p.R202R|DYX1C1_ENST00000380679.1_Silent_p.R202R|DYX1C1_ENST00000348518.3_Silent_p.R202R|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Silent_p.R202R	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	202					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCCAAATTTCTAGTAAGACtc	0.289																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(604-606)Aga>Cga		dyslexia susceptibility 1 candidate 1							35.0	37.0	36.0					15																	55759161		2186	4276	6462	SO:0001819	synonymous_variant	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55759161T>G		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.604A>C	15.37:g.55759161T>G						DYX1C1_ENST00000380679.1_Silent_p.R202R|DYX1C1_ENST00000457155.2_Silent_p.R202R|DYX1C1_ENST00000448430.2_Silent_p.R202R|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Silent_p.R202R	p.R202R	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	5	971	-			202					Q6P5Y9|Q8N1S6	Silent	SNP	ENST00000321149.3	37	c.604A>C	CCDS10154.1																																																																																				0.289	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		11	31	0	0	0	1	0	11	31				
PER2	8864	broad.mit.edu	37	2	239174207	239174207	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239174207C>A	ENST00000254657.3	-	9	1271	c.992G>T	c.(991-993)aGa>aTa	p.R331I	PER2_ENST00000355768.2_Missense_Mutation_p.R331I|PER2_ENST00000254658.3_Missense_Mutation_p.R331I|PER2_ENST00000440245.1_Missense_Mutation_p.R331I	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	331	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGTAAAAATTCTCTTTTCAGG	0.358																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(991-993)aGa>aTa		period circadian clock 2							101.0	101.0	101.0					2																	239174207		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239174207C>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.992G>T	2.37:g.239174207C>A	ENSP00000254657:p.Arg331Ile					PER2_ENST00000254658.3_Missense_Mutation_p.R331I|PER2_ENST00000355768.2_Missense_Mutation_p.R331I|PER2_ENST00000440245.1_Missense_Mutation_p.R331I	p.R331I	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	9	1271	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	331			PAS 2.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.992G>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663712	0.88251	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.59906	2.48;0.23;1.71;0.23	4.81	4.81	0.61882	PAS (1);	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.76494	0.993;0.998;0.999;0.999	P;P;D;D	0.91635	0.857;0.896;0.999;0.979	T	0.79262	-0.1876	10	0.62326	D	0.03	-25.3687	15.7784	0.78242	0.0:1.0:0.0:0.0	.	331;331;331;331	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	I	331	ENSP00000254657:R331I;ENSP00000254658:R331I;ENSP00000397516:R331I;ENSP00000348013:R331I	ENSP00000254657:R331I	R	-	2	0	PER2	238838946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.207000	0.77899	2.403000	0.81681	0.557000	0.71058	AGA		0.358	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		19	41	1	0	2.27731e-05	1	2.49859e-05	19	41				
USP9X	8239	broad.mit.edu	37	X	41057954	41057954	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41057954A>C	ENST00000324545.8	+	30	5187	c.4554A>C	c.(4552-4554)caA>caC	p.Q1518H	USP9X_ENST00000378308.2_Missense_Mutation_p.Q1518H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1518					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATCTCAAACAAATAGTAGATT	0.343																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4552-4554)caA>caC		ubiquitin specific peptidase 9, X-linked							63.0	59.0	61.0					X																	41057954		2176	4288	6464	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41057954A>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4554A>C	X.37:g.41057954A>C	ENSP00000316357:p.Gln1518His					USP9X_ENST00000378308.2_Missense_Mutation_p.Q1518H	p.Q1518H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			30	5187	+			1518					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.4554A>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393495	0.62066	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03065	4.06;4.07	4.74	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.06826	0.0174	L	0.47716	1.5	0.48571	D	0.999678	D;D	0.61080	0.989;0.967	P;P	0.56700	0.804;0.525	T	0.48811	-0.9002	10	0.15066	T	0.55	.	8.5228	0.33287	0.3313:0.0:0.6687:0.0	.	1518;1518	Q93008-1;Q93008	.;USP9X_HUMAN	H	1518	ENSP00000367558:Q1518H;ENSP00000316357:Q1518H	ENSP00000316357:Q1518H	Q	+	3	2	USP9X	40942898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.858000	0.39408	0.356000	0.24157	-0.443000	0.05667	CAA		0.343	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		22	26	0	0	0	1	0	22	26				
COL6A6	131873	broad.mit.edu	37	3	130279266	130279266	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130279266G>T	ENST00000358511.6	+	1	89	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.D20Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	20	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTGAACCAAGATTCCGGTAA	0.294																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(58-60)Gat>Tat		collagen, type VI, alpha 6							107.0	96.0	100.0					3																	130279266		1796	4057	5853	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130279266G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.58G>T	3.37:g.130279266G>T	ENSP00000351310:p.Asp20Tyr					COL6A6_ENST00000453409.2_Missense_Mutation_p.D20Y	p.D20Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			1	89	+			20			Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.58G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	6.378	0.437775	0.12104	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77877	-1.13;-1.13	5.22	1.28	0.21552	.	0.915175	0.09252	N	0.827764	T	0.72415	0.3457	M	0.67953	2.075	0.27232	N	0.959388	P	0.37423	0.594	B	0.36845	0.234	T	0.62996	-0.6735	10	0.66056	D	0.02	.	4.3752	0.11267	0.3084:0.1808:0.5109:0.0	.	20	A6NMZ7	CO6A6_HUMAN	Y	20	ENSP00000351310:D20Y;ENSP00000399236:D20Y	ENSP00000351310:D20Y	D	+	1	0	COL6A6	131761956	1.000000	0.71417	0.856000	0.33681	0.019000	0.09904	0.992000	0.29667	0.014000	0.14944	-0.152000	0.13540	GAT		0.294	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		16	21	1	0	1.99824e-07	1	2.29918e-07	16	21				
ZBED9	114821	broad.mit.edu	37	6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1117-1119)tCa>tAa		SCAN domain containing 3							114.0	117.0	116.0					6																	28543364		2203	4300	6503	SO:0001587	stop_gained	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543364G>T																												ENST00000452236.2:c.1118C>A	6.37:g.28543364G>T	ENSP00000395259:p.Ser373*						p.S373*	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1735	-			373			Integrase catalytic.			Nonsense_Mutation	SNP	ENST00000452236.2	37	c.1118C>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	41	8.759941	0.98943	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6309	0.45536	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000395259:S373X	S	-	2	0	SCAND3	28651343	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	2.230000	0.42999	1.935000	0.56089	0.655000	0.94253	TCA		0.338	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			66	33	1	0	4.49795e-14	1	5.82898e-14	66	33				
PARP9	83666	broad.mit.edu	37	3	122255817	122255817	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122255817C>A	ENST00000360356.2	-	9	2201	c.1974G>T	c.(1972-1974)aaG>aaT	p.K658N	PARP9_ENST00000462315.1_Missense_Mutation_p.K623N|PARP9_ENST00000477522.2_Missense_Mutation_p.K623N|PARP9_ENST00000492382.1_Missense_Mutation_p.K203N|PARP9_ENST00000471785.1_Missense_Mutation_p.K623N	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	658	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CAAACTGTTTCTTTTGATCTA	0.353																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(1867-1869)aaG>aaT		poly (ADP-ribose) polymerase family, member 9							174.0	174.0	174.0					3																	122255817		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122255817C>A	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1974G>T	3.37:g.122255817C>A	ENSP00000353512:p.Lys658Asn					PARP9_ENST00000492382.1_Missense_Mutation_p.K203N|PARP9_ENST00000360356.2_Missense_Mutation_p.K658N|PARP9_ENST00000477522.2_Missense_Mutation_p.K623N|PARP9_ENST00000471785.1_Missense_Mutation_p.K623N	p.K623N	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	9	2162	-			658					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1869G>T	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214715	0.39102	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.19250	3.15;2.79;3.01;3.01;2.16	5.11	4.24	0.50183	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.107273	0.41938	D	0.000788	T	0.32526	0.0832	L	0.55103	1.725	0.38621	D	0.951136	D;D;D;D	0.71674	0.98;0.998;0.996;0.994	P;P;P;P	0.56343	0.624;0.796;0.787;0.732	T	0.13845	-1.0494	10	0.46703	T	0.11	.	11.0479	0.47870	0.0:0.9137:0.0:0.0863	.	623;658;203;623	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	N	658;203;623;623;581;623	ENSP00000353512:K658N;ENSP00000417664:K203N;ENSP00000419506:K623N;ENSP00000419001:K623N;ENSP00000418894:K623N	ENSP00000353512:K658N	K	-	3	2	PARP9	123738507	0.980000	0.34600	0.859000	0.33776	0.237000	0.25408	1.177000	0.31969	1.536000	0.49237	0.655000	0.94253	AAG		0.353	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		39	69	1	0	1.93745e-38	1	2.79126e-38	39	69				
UTP14A	10813	broad.mit.edu	37	X	129053155	129053155	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129053155G>T	ENST00000394422.3	+	7	570	c.542G>T	c.(541-543)aGa>aTa	p.R181I	UTP14A_ENST00000371051.5_Missense_Mutation_p.R127I|UTP14A_ENST00000371042.3_Missense_Mutation_p.R13I|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.R129I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	181					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTTAAGGCAAGAACTCCCCTG	0.438																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(541-543)aGa>aTa		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							102.0	99.0	100.0					X																	129053155		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129053155G>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.542G>T	X.37:g.129053155G>T	ENSP00000377944:p.Arg181Ile					RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.R127I|UTP14A_ENST00000371042.3_Missense_Mutation_p.R13I|UTP14A_ENST00000425117.2_Missense_Mutation_p.R129I	p.R181I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			7	570	+			181					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.542G>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810635	0.70797	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	6.02	4.23	0.50019	.	0.247408	0.45867	D	0.000334	T	0.44477	0.1295	M	0.77820	2.39	0.53688	D	0.999978	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.72075	0.955;0.958;0.976	T	0.28586	-1.0039	10	0.44086	T	0.13	-4.7105	11.1118	0.48237	0.0703:0.1256:0.804:0.0	.	127;129;181	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	I	129;181;127;13;13	ENSP00000388669:R129I;ENSP00000377944:R181I;ENSP00000360090:R127I;ENSP00000413187:R13I;ENSP00000360081:R13I	ENSP00000360081:R13I	R	+	2	0	UTP14A	128880836	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.518000	0.45537	0.663000	0.31027	0.597000	0.82753	AGA		0.438	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		42	76	1	0	3.61848e-18	1	4.89221e-18	42	76				
ZNF396	252884	broad.mit.edu	37	18	32949295	32949295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32949295G>A	ENST00000589332.1	-	4	1023	c.892C>T	c.(892-894)Cga>Tga	p.R298*	ZNF396_ENST00000306346.1_Nonsense_Mutation_p.R298*			Q96N95	ZN396_HUMAN	zinc finger protein 396	298					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)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGGGTTCGTCGATGCTGAATC	0.438																																						ENST00000306346.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(892-894)Cga>Tga		zinc finger protein 396							90.0	87.0	88.0					18																	32949295		2203	4300	6503	SO:0001587	stop_gained	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32949295G>A	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.892C>T	18.37:g.32949295G>A	ENSP00000466500:p.Arg298*					ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R298*	p.R298*	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN			4	1023	-			298					A1L3V0|Q8NF98|Q8TD80	Nonsense_Mutation	SNP	ENST00000589332.1	37	c.892C>T		.	.	.	.	.	.	.	.	.	.	G	15.83	2.947609	0.53186	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	.	.	.	3.96	1.07	0.20283	.	0.578688	0.13014	U	0.420648	.	.	.	.	.	.	0.21290	N	0.99973	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	4.7117	0.12875	0.2063:0.0:0.6165:0.1771	.	.	.	.	X	298	.	ENSP00000302310:R298X	R	-	1	2	ZNF396	31203293	0.070000	0.21116	0.692000	0.30179	0.227000	0.25037	0.424000	0.21330	0.416000	0.25844	0.650000	0.86243	CGA		0.438	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		4	38	0	0	0	1	0	4	38				
MOGAT2	80168	broad.mit.edu	37	11	75439940	75439940	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:75439940G>T	ENST00000198801.5	+	5	826	c.756G>T	c.(754-756)aaG>aaT	p.K252N	MOGAT2_ENST00000526712.1_Missense_Mutation_p.K170N	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	252					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGTTGCAGAAGATCATGGGCA	0.522																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(508-510)aaG>aaT		monoacylglycerol O-acyltransferase 2							170.0	148.0	156.0					11																	75439940		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439940G>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.756G>T	11.37:g.75439940G>T	ENSP00000198801:p.Lys252Asn					MOGAT2_ENST00000198801.5_Missense_Mutation_p.K252N	p.K170N			Q3SYC2	MOGT2_HUMAN			4	1283	+	Ovarian(111;0.103)		252					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.510G>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760114	0.49468	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.15372	2.43;2.43	6.03	4.18	0.49190	.	0.509334	0.23439	N	0.048167	T	0.19886	0.0478	L	0.54863	1.705	0.38915	D	0.957628	B	0.18863	0.031	B	0.27262	0.078	T	0.03403	-1.1040	10	0.51188	T	0.08	-20.9864	11.9097	0.52733	0.1412:0.0:0.8588:0.0	.	252	Q3SYC2	MOGT2_HUMAN	N	252;170	ENSP00000198801:K252N;ENSP00000436283:K170N	ENSP00000198801:K252N	K	+	3	2	MOGAT2	75117588	0.001000	0.12720	0.993000	0.49108	0.996000	0.88848	0.252000	0.18278	0.892000	0.36259	0.655000	0.94253	AAG		0.522	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		38	65	1	0	6.04917e-29	1	8.60473e-29	38	65				
SLCO2A1	6578	broad.mit.edu	37	3	133661613	133661613	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133661613C>T	ENST00000310926.4	-	11	1735		c.e11-1		SLCO2A1_ENST00000493729.1_Splice_Site	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1						lipid transport (GO:0006869)|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)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TCAAATAGATCTTCAAGAGGA	0.517																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.e11-1		solute carrier organic anion transporter family, member 2A1							76.0	80.0	79.0					3																	133661613		2203	4300	6503	SO:0001630	splice_region_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133661613C>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1462-1G>A	3.37:g.133661613C>T						SLCO2A1_ENST00000493729.1_Splice_Site		NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			11	1735	-								Q86V98|Q8IUN2	Splice_Site	SNP	ENST00000310926.4	37		CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855028	0.91355	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5387	0.95266	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLCO2A1	135144303	1.000000	0.71417	0.325000	0.25375	0.586000	0.36452	7.113000	0.77095	2.634000	0.89283	0.561000	0.74099	.		0.517	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	Intron	25	46	0	0	0	1	0	25	46				
DAB2	1601	broad.mit.edu	37	5	39392476	39392476	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:39392476C>A	ENST00000320816.6	-	4	788	c.321G>T	c.(319-321)gaG>gaT	p.E107D	DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Missense_Mutation_p.E107D|DAB2_ENST00000545653.1_Missense_Mutation_p.E107D|DAB2_ENST00000339788.6_Missense_Mutation_p.E107D	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	107	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCCCAGTTTTCTCATCAATTA	0.458																																						ENST00000320816.6																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(319-321)gaG>gaT		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							82.0	88.0	86.0					5																	39392476		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39392476C>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.321G>T	5.37:g.39392476C>A	ENSP00000313391:p.Glu107Asp					DAB2_ENST00000545653.1_Missense_Mutation_p.E107D|DAB2_ENST00000339788.6_Missense_Mutation_p.E107D|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Missense_Mutation_p.E107D	p.E107D	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		4	788	-	all_lung(31;0.000197)		107			PID.		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.321G>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372546	0.82573	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.71	3.94	0.45596	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	M	0.70595	2.14	0.58432	D	0.999998	P;D	0.53885	0.757;0.963	D;D	0.76575	0.98;0.988	T	0.75783	-0.3196	10	0.72032	D	0.01	-17.7663	9.947	0.41616	0.0:0.7308:0.0:0.2692	.	107;107	P98082;P98082-3	DAB2_HUMAN;.	D	107	ENSP00000313391:E107D;ENSP00000345508:E107D;ENSP00000439919:E107D;ENSP00000426245:E107D	ENSP00000313391:E107D	E	-	3	2	DAB2	39428233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.105000	0.31086	0.781000	0.33589	0.655000	0.94253	GAG		0.458	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		10	16	1	0	9.70103e-10	1	1.17791e-09	10	16				
MYO18B	84700	broad.mit.edu	37	22	26343735	26343735	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26343735G>A	ENST00000407587.2	+	36	5861	c.5692G>A	c.(5692-5694)Gat>Aat	p.D1898N	MYO18B_ENST00000536101.1_Missense_Mutation_p.D1897N|MYO18B_ENST00000335473.7_Missense_Mutation_p.D1897N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1897	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGCGCATCGATGAGGACCA	0.552																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5689-5691)Gat>Aat		myosin XVIIIB							71.0	73.0	72.0					22																	26343735		2089	4228	6317	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26343735G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5692G>A	22.37:g.26343735G>A	ENSP00000386096:p.Asp1898Asn					MYO18B_ENST00000536101.1_Missense_Mutation_p.D1897N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1898N	p.D1897N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			36	5939	+			1897			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5689G>A		.	.	.	.	.	.	.	.	.	.	G	20.7	4.026681	0.75390	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86865	-2.16;-2.16;-2.18	5.06	5.06	0.68205	.	0.310681	0.30028	N	0.010591	D	0.90707	0.7084	L	0.54323	1.7	0.40357	D	0.979199	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.69824	0.807;0.926;0.954;0.966	D	0.91522	0.5235	10	0.87932	D	0	.	11.5772	0.50869	0.0877:0.0:0.9123:0.0	.	1410;1897;1898;1897	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	N	1897;1897;1898	ENSP00000441229:D1897N;ENSP00000334563:D1897N;ENSP00000386096:D1898N	ENSP00000334563:D1897N	D	+	1	0	MYO18B	24673735	1.000000	0.71417	0.106000	0.21319	0.672000	0.39443	7.274000	0.78538	2.360000	0.80028	0.655000	0.94253	GAT		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		22	30	0	0	0	1	0	22	30				
SMC4	10051	broad.mit.edu	37	3	160150975	160150975	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160150975C>T	ENST00000357388.3	+	23	4143	c.3692C>T	c.(3691-3693)tCc>tTc	p.S1231F	TRIM59_ENST00000543469.1_3'UTR|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.S1173F|SMC4_ENST00000344722.5_Missense_Mutation_p.S1231F|SMC4_ENST00000462787.1_Missense_Mutation_p.S1173F|SMC4_ENST00000469762.1_Missense_Mutation_p.S1206F	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1231					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAATGTGTCCATTGTTGCA	0.343																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3691-3693)tCc>tTc		structural maintenance of chromosomes 4							121.0	120.0	121.0					3																	160150975		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160150975C>T	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3692C>T	3.37:g.160150975C>T	ENSP00000349961:p.Ser1231Phe					SMC4_ENST00000360111.2_Missense_Mutation_p.S1173F|RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_3'UTR|SMC4_ENST00000462787.1_Missense_Mutation_p.S1173F|SMC4_ENST00000469762.1_Missense_Mutation_p.S1206F|SMC4_ENST00000344722.5_Missense_Mutation_p.S1231F	p.S1231F	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		23	4143	+			1231					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.3692C>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047122	0.75846	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.74	5.74	0.90152	RecF/RecN/SMC (1);	0.052158	0.85682	D	0.000000	D	0.84995	0.5596	M	0.86864	2.845	0.80722	D	1	P;P;D;B	0.89917	0.61;0.904;1.0;0.414	B;P;D;B	0.91635	0.258;0.867;0.999;0.272	D	0.85377	0.1117	10	0.49607	T	0.09	-9.8081	19.9265	0.97104	0.0:1.0:0.0:0.0	.	1173;1206;1206;1231	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	F	1231;1173;1206;1173;1231;825	ENSP00000349961:S1231F;ENSP00000353225:S1173F;ENSP00000417964:S1206F;ENSP00000420734:S1173F;ENSP00000341382:S1231F	ENSP00000341382:S1231F	S	+	2	0	SMC4	161633669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.784000	0.85713	2.723000	0.93209	0.591000	0.81541	TCC		0.343	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			27	33	0	0	0	1	0	27	33				
FAM135B	51059	broad.mit.edu	37	8	139164633	139164633	+	Silent	SNP	G	G	A	rs183117074	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139164633G>A	ENST00000395297.1	-	13	2255	c.2085C>T	c.(2083-2085)gtC>gtT	p.V695V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	695										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGACCAGGCGACGGAGCTTG	0.552										HNSCC(54;0.14)			G|||	2	0.000399361	0.0008	0.0	5008	,	,		17617	0.0		0.0	False		,,,				2504	0.001					ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2083-2085)gtC>gtT		family with sequence similarity 135, member B		G		1,3859		0,1,1929	52.0	53.0	52.0		2085	-11.3	0.1	8		52	0,8232		0,0,4116	no	coding-synonymous	FAM135B	NM_015912.3		0,1,6045	AA,AG,GG		0.0,0.0259,0.0083		695/1407	139164633	1,12091	1930	4116	6046	SO:0001819	synonymous_variant	51059							g.chr8:139164633G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2085C>T	8.37:g.139164633G>A		HNSCC(54;0.14)					p.V695V	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2255	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		695					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.2085C>T	CCDS6375.2																																																																																				0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		24	41	0	0	0	1	0	24	41				
GOLGB1	2804	broad.mit.edu	37	3	121448762	121448762	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121448762T>C	ENST00000340645.5	-	3	324	c.199A>G	c.(199-201)Att>Gtt	p.I67V	GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000393667.3_Missense_Mutation_p.I67V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	67					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTCTAATAATATCTTTTAGC	0.383																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(199-201)Att>Gtt		golgin B1							164.0	153.0	156.0					3																	121448762		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121448762T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.199A>G	3.37:g.121448762T>C	ENSP00000341848:p.Ile67Val					GOLGB1_ENST00000340645.5_Missense_Mutation_p.I67V|GOLGB1_ENST00000472829.1_5'UTR	p.I67V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	3	309	-			67					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.199A>G	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.162|8.162	0.789674|0.789674	0.16258|0.16258	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517	.|T;T;T	.|0.22336	.|2.56;2.56;1.96	5.25|5.25	-10.5|-10.5	0.00291|0.00291	.|.	1.316990|1.316990	0.04944|0.04944	N|N	0.459067|0.459067	T|T	0.09555|0.09555	0.0235|0.0235	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0;0.0	.|B;B;B;B;B	.|0.08055	.|0.001;0.003;0.001;0.001;0.001	T|T	0.17961|0.17961	-1.0352|-1.0352	6|10	.|0.27082	.|T	.|0.32	.|.	4.3988|4.3988	0.11376|0.11376	0.1033:0.3156:0.4194:0.1617|0.1033:0.3156:0.4194:0.1617	.|.	.|28;67;67;67;67	.|F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.|.;.;.;.;GOGB1_HUMAN	M|V	12|67	.|ENSP00000341848:I67V;ENSP00000377275:I67V;ENSP00000418231:I67V	.|ENSP00000341848:I67V	I|I	-|-	3|1	3|0	GOLGB1|GOLGB1	122931452|122931452	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.749000|0.749000	0.42624|0.42624	-1.649000|-1.649000	0.01993|0.01993	-1.627000|-1.627000	0.01550|0.01550	-0.361000|-0.361000	0.07541|0.07541	ATA|ATT		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		23	33	0	0	0	1	0	23	33				
ARSB	411	broad.mit.edu	37	5	78076220	78076220	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78076220C>A	ENST00000264914.4	-	8	2138	c.1602G>T	c.(1600-1602)taG>taT	p.*534Y		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	0					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CCCTGAAATCCTACATCCAAG	0.527																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1600-1602)taG>taT		arylsulfatase B							54.0	52.0	53.0					5																	78076220		2200	4299	6499	SO:0001578	stop_lost	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78076220C>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1602G>T	5.37:g.78076220C>A							p.*534Y	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	8	2138	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	0					B2RC20|Q8N322|Q9UDI9	Nonstop_Mutation	SNP	ENST00000264914.4	37	c.1602G>T	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676316	0.67928	.	.	ENSG00000113273	ENST00000264914	.	.	.	5.3	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3128	0.60390	0.0:0.9239:0.0:0.0761	.	.	.	.	Y	534	.	.	X	-	3	2	ARSB	78111976	0.937000	0.31787	0.990000	0.47175	0.923000	0.55619	1.940000	0.40223	1.233000	0.43693	0.555000	0.69702	TAG		0.527	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		8	78	1	0	1.06961e-07	1	1.24214e-07	8	78				
ZSWIM2	151112	broad.mit.edu	37	2	187702145	187702145	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:187702145A>C	ENST00000295131.2	-	5	670	c.631T>G	c.(631-633)Ttc>Gtc	p.F211V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	211					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAGTTTTTGAATTCCTCCAAA	0.393																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(631-633)Ttc>Gtc		zinc finger, SWIM-type containing 2							115.0	113.0	114.0					2																	187702145		2203	4299	6502	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702145A>C	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.631T>G	2.37:g.187702145A>C	ENSP00000295131:p.Phe211Val						p.F211V	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	670	-			211					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.631T>G	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457262	0.26161	.	.	ENSG00000163012	ENST00000295131	D	0.86956	-2.19	5.97	5.97	0.96955	.	0.112791	0.40554	N	0.001076	D	0.83714	0.5314	L	0.45581	1.43	0.36772	D	0.883835	P	0.39480	0.675	B	0.38428	0.273	D	0.86830	0.2010	10	0.46703	T	0.11	-6.0732	13.9615	0.64182	1.0:0.0:0.0:0.0	.	211	Q8NEG5	ZSWM2_HUMAN	V	211	ENSP00000295131:F211V	ENSP00000295131:F211V	F	-	1	0	ZSWIM2	187410390	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	3.776000	0.55356	2.287000	0.76781	0.482000	0.46254	TTC		0.393	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		25	39	0	0	0	1	0	25	39				
PHYHIPL	84457	broad.mit.edu	37	10	61004994	61004994	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61004994A>G	ENST00000373880.4	+	5	1038	c.774A>G	c.(772-774)aaA>aaG	p.K258K	PHYHIPL_ENST00000373878.3_Silent_p.K232K	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	258						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CCGCAGAAAAACTTTTTAACC	0.413																																						ENST00000373880.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						c.(772-774)aaA>aaG		phytanoyl-CoA 2-hydroxylase interacting protein-like							99.0	100.0	99.0					10																	61004994		2203	4300	6503	SO:0001819	synonymous_variant	84457							g.chr10:61004994A>G	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.774A>G	10.37:g.61004994A>G						PHYHIPL_ENST00000373878.3_Silent_p.K232K	p.K258K	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN			5	1038	+			258					B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Silent	SNP	ENST00000373880.4	37	c.774A>G	CCDS7254.1																																																																																				0.413	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		5	48	0	0	0	1	0	5	48				
TLK2	11011	broad.mit.edu	37	17	60631070	60631070	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:60631070A>C	ENST00000326270.9	+	9	942	c.674A>C	c.(673-675)aAt>aCt	p.N225T	RP11-464D20.6_ENST00000583426.1_RNA|TLK2_ENST00000582809.1_Missense_Mutation_p.N76T|TLK2_ENST00000343388.7_Missense_Mutation_p.N193T|TLK2_ENST00000542523.1_Missense_Mutation_p.N193T|TLK2_ENST00000346027.5_Missense_Mutation_p.N225T	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	225					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AACAGTAAGAATTCTGACTTA	0.299																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(226-228)aAt>aCt		tousled-like kinase 2							54.0	62.0	59.0					17																	60631070		2202	4295	6497	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60631070A>C	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.674A>C	17.37:g.60631070A>C	ENSP00000316512:p.Asn225Thr					TLK2_ENST00000542523.1_Missense_Mutation_p.N193T|TLK2_ENST00000326270.9_Missense_Mutation_p.N225T|TLK2_ENST00000343388.7_Missense_Mutation_p.N193T|TLK2_ENST00000346027.5_Missense_Mutation_p.N225T	p.N76T			Q86UE8	TLK2_HUMAN			10	930	+			225					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.227A>C		.	.	.	.	.	.	.	.	.	.	A	9.252	1.040928	0.19669	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.24	4.24	0.50183	.	0.094715	0.64402	D	0.000001	T	0.38719	0.1051	L	0.49350	1.555	0.48236	D	0.999619	P;B;B;B	0.38455	0.632;0.007;0.026;0.007	B;B;B;B	0.38327	0.271;0.015;0.025;0.011	T	0.17653	-1.0362	10	0.28530	T	0.3	.	7.56	0.27845	0.903:0.0:0.097:0.0	.	225;193;225;225	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	T	225;193;225;193	ENSP00000275780:N225T;ENSP00000340800:N193T;ENSP00000316512:N225T;ENSP00000442311:N193T	ENSP00000316512:N225T	N	+	2	0	TLK2	57984802	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.144000	0.64832	1.781000	0.52344	0.377000	0.23210	AAT		0.299	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		3	25	0	0	0	1	0	3	25				
KIAA2018	205717	broad.mit.edu	37	3	113375981	113375981	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113375981T>C	ENST00000478658.1	-	5	4565	c.4548A>G	c.(4546-4548)caA>caG	p.Q1516Q	KIAA2018_ENST00000316407.4_Silent_p.Q1516Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1516	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAACTTCCTGTTGCAGAGTCC	0.483																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(4546-4548)caA>caG		KIAA2018							127.0	128.0	128.0					3																	113375981		2030	4203	6233	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375981T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4548A>G	3.37:g.113375981T>C						KIAA2018_ENST00000478658.1_Silent_p.Q1516Q|KIAA2018_ENST00000491165.1_Intron	p.Q1516Q	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	4958	-			1516			Gln-rich.		Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.4548A>G	CCDS43133.1																																																																																				0.483	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		19	31	0	0	0	1	0	19	31				
GPR32	2854	broad.mit.edu	37	19	51274539	51274539	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51274539C>T	ENST00000270590.4	+	1	819	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	228					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.P228S(2)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTCCTGGGGCCCTTAGCAAT	0.597																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			2	Substitution - Missense(2)	p.P228S(2)	lung(2)	breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(682-684)Ccc>Tcc		G protein-coupled receptor 32							48.0	50.0	49.0					19																	51274539		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274539C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.682C>T	19.37:g.51274539C>T	ENSP00000270590:p.Pro228Ser						p.P228S	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	819	+		all_neural(266;0.131)	228					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.682C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191989	0.38707	.	.	ENSG00000142511	ENST00000270590	T	0.55930	0.49	2.56	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75309	0.3832	M	0.91459	3.21	0.42298	D	0.992161	D	0.89917	1.0	D	0.97110	1.0	T	0.80659	-0.1284	9	0.87932	D	0	.	11.228	0.48895	0.0:1.0:0.0:0.0	.	228	O75388	GPR32_HUMAN	S	228	ENSP00000270590:P228S	ENSP00000270590:P228S	P	+	1	0	GPR32	55966351	0.988000	0.35896	0.004000	0.12327	0.080000	0.17528	4.064000	0.57506	1.356000	0.45884	0.313000	0.20887	CCC		0.597	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			25	50	0	0	0	1	0	25	50				
EDAR	10913	broad.mit.edu	37	2	109513452	109513452	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109513452G>A	ENST00000258443.2	-	12	1688	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	EDAR_ENST00000409271.1_Missense_Mutation_p.R452W|EDAR_ENST00000376651.1_Missense_Mutation_p.R452W	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	420	Death.		R -> Q (in ECTD10A and ECTD10B; abolishes NF-kappa-B activation and reduces JNK activation). {ECO:0000269|PubMed:10431241, ECO:0000269|PubMed:16435307, ECO:0000269|PubMed:18231121, ECO:0000269|PubMed:20979233}.		apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCATCCAGCCGCTCAATCTGC	0.572																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(1354-1356)Cgg>Tgg		ectodysplasin A receptor							96.0	73.0	81.0					2																	109513452		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109513452G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1258C>T	2.37:g.109513452G>A	ENSP00000258443:p.Arg420Trp					EDAR_ENST00000376651.1_Missense_Mutation_p.R452W|EDAR_ENST00000258443.2_Missense_Mutation_p.R420W	p.R452W			Q9UNE0	EDAR_HUMAN			12	1797	-			420					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.1354C>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032018	0.54790	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.88509	-2.39;-2.39;-2.39	5.49	3.61	0.41365	Death (1);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.89420	0.6710	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90665	0.4593	10	0.72032	D	0.01	-25.9781	13.6962	0.62580	0.0:0.0:0.6005:0.3995	.	452;420	E9PC98;Q9UNE0	.;EDAR_HUMAN	W	452;420;452	ENSP00000386371:R452W;ENSP00000258443:R420W;ENSP00000365839:R452W	ENSP00000258443:R420W	R	-	1	2	EDAR	108879884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.618000	0.46393	1.288000	0.44600	0.650000	0.86243	CGG		0.572	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			8	14	0	0	0	1	0	8	14				
KERA	11081	broad.mit.edu	37	12	91449541	91449541	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91449541A>C	ENST00000266719.3	-	2	765	c.518T>G	c.(517-519)cTa>cGa	p.L173R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	173					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTGTTCTGTAGGTCAAGAAG	0.403																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(517-519)cTa>cGa		keratocan							118.0	113.0	115.0					12																	91449541		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449541A>C	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.518T>G	12.37:g.91449541A>C	ENSP00000266719:p.Leu173Arg						p.L173R	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	765	-			173						Missense_Mutation	SNP	ENST00000266719.3	37	c.518T>G	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068390	0.76301	.	.	ENSG00000139330	ENST00000266719	T	0.77489	-1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.93080	0.7797	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95580	0.8645	10	0.87932	D	0	-11.5636	16.6438	0.85155	1.0:0.0:0.0:0.0	.	173	O60938	KERA_HUMAN	R	173	ENSP00000266719:L173R	ENSP00000266719:L173R	L	-	2	0	KERA	89973672	1.000000	0.71417	0.992000	0.48379	0.953000	0.61014	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	CTA		0.403	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		9	111	0	0	0	1	0	9	111				
ATRX	546	broad.mit.edu	37	X	76888737	76888737	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76888737G>A	ENST00000373344.5	-	19	5306	c.5092C>T	c.(5092-5094)Cgg>Tgg	p.R1698W	ATRX_ENST00000395603.3_Missense_Mutation_p.R1660W|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1698	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAAGTTTCCGACTCTTCACA	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5092-5094)Cgg>Tgg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						214.0	223.0	220.0					X																	76888737		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76888737G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5092C>T	X.37:g.76888737G>A	ENSP00000362441:p.Arg1698Trp					ATRX_ENST00000395603.3_Missense_Mutation_p.R1660W|ATRX_ENST00000480283.1_5'UTR	p.R1698W	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			19	5306	-			1698			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5092C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694635	0.48202	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93307	-3.2;-3.2	5.64	3.52	0.40303	DEAD-like helicase (2);SNF2-related (1);	0.063082	0.64402	D	0.000007	D	0.95490	0.8535	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	D	0.94720	0.7900	10	0.87932	D	0	-7.167	12.8399	0.57794	0.0:0.0:0.1854:0.8146	.	1660;1698	P46100-4;P46100	.;ATRX_HUMAN	W	1698;1660	ENSP00000362441:R1698W;ENSP00000378967:R1660W	ENSP00000362441:R1698W	R	-	1	2	ATRX	76775393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.493000	0.53266	0.393000	0.25203	-0.213000	0.12676	CGG		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		33	206	0	0	0	1	0	33	206				
SLC35G2	80723	broad.mit.edu	37	3	136574280	136574280	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136574280C>A	ENST00000446465.2	+	2	1606	c.978C>A	c.(976-978)gtC>gtA	p.V326V	RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.V326V|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		CTATATGTGTCTGTTCTACTG	0.403																																						ENST00000446465.2																			0											c.(976-978)gtC>gtA		solute carrier family 35, member G2							273.0	267.0	269.0					3																	136574280		2203	4300	6503	SO:0001819	synonymous_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136574280C>A	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.978C>A	3.37:g.136574280C>A						RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.V326V	p.V326V	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	1606	+			326			DUF6 2.			Silent	SNP	ENST00000446465.2	37	c.978C>A	CCDS3091.1																																																																																				0.403	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		16	196	1	0	4.14922e-12	1	5.21015e-12	16	196				
ZNF20	7568	broad.mit.edu	37	19	12243874	12243874	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12243874A>C	ENST00000334213.5	-	4	1351	c.1127T>G	c.(1126-1128)tTt>tGt	p.F376C	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	376					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)|kidney(1)|lung(6)	8						AGCACATCTAAAGCCTTTCCC	0.418																																						ENST00000334213.5																			0				endometrium(1)|kidney(1)|lung(6)	8						c.(1126-1128)tTt>tGt		zinc finger protein 20							60.0	62.0	61.0					19																	12243874		2192	4296	6488	SO:0001583	missense	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12243874A>C	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1127T>G	19.37:g.12243874A>C	ENSP00000335437:p.Phe376Cys					ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	p.F376C	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN			4	1351	-			376					Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	c.1127T>G	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197416	0.38806	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.41758	0.99	0.94	0.94	0.19513	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59569	0.2203	M	0.79614	2.46	0.22446	N	0.999097	D	0.89917	1.0	D	0.97110	1.0	T	0.42916	-0.9423	9	0.87932	D	0	.	6.0337	0.19694	1.0:0.0:0.0:0.0	.	376	P17024	ZNF20_HUMAN	C	376	ENSP00000335437:F376C	ENSP00000292241:F376C	F	-	2	0	ZNF20	12104874	0.997000	0.39634	0.002000	0.10522	0.036000	0.12997	5.236000	0.65354	0.654000	0.30846	0.260000	0.18958	TTT		0.418	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		11	48	0	0	0	1	0	11	48				
FLT3	2322	broad.mit.edu	37	13	28602426	28602426	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:28602426C>A	ENST00000241453.7	-	16	2024		c.e16-1		FLT3_ENST00000380982.4_Splice_Site|FLT3_ENST00000537084.1_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGCTTTTTCTGTCAAAGAA	0.388			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.e16-1		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						59.0	52.0	54.0					13																	28602426		2203	4300	6503	SO:0001630	splice_region_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28602426C>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1943-1G>T	13.37:g.28602426C>A						FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000241453.7_Splice_Site				P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	16	2024	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)						A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Splice_Site	SNP	ENST00000241453.7	37		CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381257	0.61845	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4702	0.94961	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27500426	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.781000	0.68964	2.580000	0.87095	0.555000	0.69702	.		0.388	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		Intron	9	15	1	0	0.0477658	1	0.0484551	9	15				
CHST9	83539	broad.mit.edu	37	18	24496352	24496352	+	Silent	SNP	G	G	A	rs375278353		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:24496352G>A	ENST00000284224.8	-	6	1480	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Silent_p.S401S|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	401					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCTTTCATCGGAAGAGTGCC	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		19833	0.001		0.0	False		,,,				2504	0.0					ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(1201-1203)tcC>tcT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9		G		0,3682		0,0,1841	146.0	136.0	139.0		1203	-10.8	0.7	18		139	3,8177		0,3,4087	no	coding-synonymous	CHST9	NM_031422.4		0,3,5928	AA,AG,GG		0.0367,0.0,0.0253		401/444	24496352	3,11859	1841	4090	5931	SO:0001819	synonymous_variant	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496352G>A	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1203C>T	18.37:g.24496352G>A						CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.S401S|AQP4-AS1_ENST00000579964.1_RNA	p.S401S	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	1480	-	all_lung(6;0.0145)|Ovarian(20;0.124)		401					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	c.1203C>T	CCDS42422.1																																																																																				0.368	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		34	77	0	0	0	1	0	34	77				
GLA	2717	broad.mit.edu	37	X	100653892	100653892	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100653892T>G	ENST00000218516.3	-	5	703	c.682A>C	c.(682-684)Aat>Cat	p.N228H	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'Flank	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	228					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TCAGCAAAATTTCGCCAGTGA	0.398																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(682-684)Aat>Cat		galactosidase, alpha	Agalsidase beta(DB00103)						165.0	159.0	161.0					X																	100653892		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100653892T>G	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.682A>C	X.37:g.100653892T>G	ENSP00000218516:p.Asn228His					GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	p.N228H	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN			5	703	-			228					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.682A>C	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181203	0.78677	.	.	ENSG00000102393	ENST00000218516	D	0.99885	-7.5	5.67	5.67	0.87782	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.040458	0.85682	D	0.000000	D	0.99883	0.9944	.	.	.	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.96052	0.9032	9	0.87932	D	0	-19.4618	15.105	0.72315	0.0:0.0:0.0:1.0	.	228	P06280	AGAL_HUMAN	H	228	ENSP00000218516:N228H	ENSP00000218516:N228H	N	-	1	0	GLA	100540548	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	7.997000	0.88414	2.018000	0.59344	0.486000	0.48141	AAT		0.398	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			55	74	0	0	0	1	0	55	74				
CDR1	1038	broad.mit.edu	37	X	139865861	139865861	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:139865861C>T	ENST00000370532.2	-	1	862	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	224								p.R224H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GAAAAATCTACGTCTTCCACC	0.448																																						ENST00000370532.2																			1	Substitution - Missense(1)	p.R224H(1)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(670-672)cGt>cAt		cerebellar degeneration-related protein 1, 34kDa							119.0	113.0	115.0					X																	139865861		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139865861C>T		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.671G>A	X.37:g.139865861C>T	ENSP00000359563:p.Arg224His						p.R224H	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	862	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	224					Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.671G>A	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.997007	0.00435	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.58	-9.15	0.00698	.	.	.	.	.	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52917	-0.8511	7	.	.	.	.	15.7901	0.78350	0.0:0.5526:0.3087:0.1387	.	224	P51861	CDR1_HUMAN	H	224	.	.	R	-	2	0	CDR1	139693527	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-13.485000	0.00001	-5.748000	0.00010	-1.800000	0.00619	CGT		0.448	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		75	110	0	0	0	1	0	75	110				
RNF213	57674	broad.mit.edu	37	17	78353468	78353468	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:78353468A>C	ENST00000582970.1	+	55	13737	c.13594A>C	c.(13594-13596)Att>Ctt	p.I4532L	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.I2605L|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.I4581L|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4532					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)			CCATGCGCCGATTGGAGGCAT	0.507																																						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.(13594-13596)Att>Ctt		ring finger protein 213							131.0	119.0	123.0					17																	78353468		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78353468A>C	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.13594A>C	17.37:g.78353468A>C	ENSP00000464087:p.Ile4532Leu					RNF213_ENST00000336301.6_Missense_Mutation_p.I2605L|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.I4581L	p.I4532L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		55	13737	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13594A>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330396	0.41297	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.40225	1.04	5.5	-6.55	0.01854	.	0.466272	0.22022	N	0.065720	T	0.37892	0.1020	M	0.74467	2.265	0.09310	N	1	B;B	0.31435	0.323;0.108	B;B	0.30572	0.117;0.025	T	0.17715	-1.0360	10	0.45353	T	0.12	.	14.8464	0.70264	0.2766:0.0982:0.6252:0.0	.	4581;2605	C9JCP4;Q63HN8	.;RN213_HUMAN	L	4532;4581;2605	ENSP00000338218:I2605L	ENSP00000338218:I2605L	I	+	1	0	RNF213	75968063	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.072000	0.14617	-1.420000	0.02009	-0.256000	0.11100	ATT		0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		21	47	0	0	0	1	0	21	47				
REV3L	5980	broad.mit.edu	37	6	111693940	111693940	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111693940C>T	ENST00000358835.3	-	14	6072	c.5618G>A	c.(5617-5619)cGa>cAa	p.R1873Q	REV3L_ENST00000368802.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000435970.1_Missense_Mutation_p.R1795Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R1873Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1873	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R1795Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTAGCAGTTCGAGGGGTGAA	0.413								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			1	Substitution - Missense(1)	p.R1795Q(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5383-5385)cGa>cAa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							185.0	190.0	189.0					6																	111693940		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693940C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5618G>A	6.37:g.111693940C>T	ENSP00000351697:p.Arg1873Gln					REV3L_ENST00000368802.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000358835.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R1873Q	p.R1795Q			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6200	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1873					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5384G>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530228	0.85706	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01548	4.87;4.87;4.87;4.78	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.082380	0.50627	D	0.000107	T	0.03783	0.0107	L	0.51422	1.61	0.46044	D	0.998832	D	0.76494	0.999	P	0.57204	0.815	T	0.55915	-0.8065	10	0.49607	T	0.09	-3.391	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1873	O60673	DPOLZ_HUMAN	Q	1873;1873;1873;1795	ENSP00000357792:R1873Q;ENSP00000357795:R1873Q;ENSP00000351697:R1873Q;ENSP00000402003:R1795Q	ENSP00000351697:R1873Q	R	-	2	0	REV3L	111800633	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.232000	0.78116	2.805000	0.96524	0.655000	0.94253	CGA		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		55	131	0	0	0	1	0	55	131				
LRRTM3	347731	broad.mit.edu	37	10	68687299	68687299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:68687299G>T	ENST00000361320.4	+	2	1203	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	209					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGACTCAAAGAACTTCACCT	0.453																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(625-627)Gaa>Taa		leucine rich repeat transmembrane neuronal 3							100.0	102.0	101.0					10																	68687299		2203	4300	6503	SO:0001587	stop_gained	347731					integral to membrane		g.chr10:68687299G>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.625G>T	10.37:g.68687299G>T	ENSP00000355187:p.Glu209*					CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	p.E209*	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1203	+			209					A8K2A3|Q2NKX7|Q6N0A3	Nonsense_Mutation	SNP	ENST00000361320.4	37	c.625G>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	42	9.384686	0.99155	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	17.9918	0.89171	0.0:0.0:1.0:0.0	.	.	.	.	X	209	.	ENSP00000355187:E209X	E	+	1	0	LRRTM3	68357305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.538000	0.85594	0.650000	0.86243	GAA		0.453	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		33	63	1	0	3.11337e-16	1	4.1367e-16	33	63				
ZNF728	388523	broad.mit.edu	37	19	23159480	23159480	+	Missense_Mutation	SNP	C	C	A	rs144353074		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23159480C>A	ENST00000594710.1	-	4	804	c.659G>T	c.(658-660)aGa>aTa	p.R220I		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	220					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AGTATGAATTCTCTTATAAGT	0.373																																						ENST00000594710.1																			0											c.(658-660)aGa>aTa		zinc finger protein 728																																				SO:0001583	missense	388523							g.chr19:23159480C>A	BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067		"""Zinc fingers, C2H2-type"", ""-"""	32463	protein-coding gene	gene with protein product							Standard	NM_001267716		Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.659G>T	19.37:g.23159480C>A	ENSP00000471593:p.Arg220Ile						p.R220I	NM_001267716.1	NP_001254645.1					4	804	-									Missense_Mutation	SNP	ENST00000594710.1	37	c.659G>T	CCDS59370.1																																																																																				0.373	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465176.1	NM_001267716		16	24	1	0	3.45872e-05	1	3.78815e-05	16	24				
RBM43	375287	broad.mit.edu	37	2	152107614	152107614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152107614C>A	ENST00000331426.5	-	4	1031	c.880G>T	c.(880-882)Gag>Tag	p.E294*		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	294							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATAAATGTCTCTTTTCTAAGC	0.348																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(880-882)Gag>Tag		RNA binding motif protein 43							96.0	94.0	95.0					2																	152107614		2203	4300	6503	SO:0001587	stop_gained	375287						nucleotide binding|RNA binding	g.chr2:152107614C>A	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.880G>T	2.37:g.152107614C>A	ENSP00000331211:p.Glu294*						p.E294*	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	1031	-			294					B2RMT5	Nonsense_Mutation	SNP	ENST00000331426.5	37	c.880G>T	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726741	0.96847	.	.	ENSG00000184898	ENST00000331426	.	.	.	5.48	4.59	0.56863	.	0.072078	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.9213	13.8611	0.63561	0.0:0.8475:0.1525:0.0	.	.	.	.	X	294	.	ENSP00000331211:E294X	E	-	1	0	RBM43	151815860	1.000000	0.71417	0.997000	0.53966	0.767000	0.43475	2.953000	0.49105	1.528000	0.49103	-0.176000	0.13171	GAG		0.348	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		14	23	1	0	1.05317e-09	1	1.27574e-09	14	23				
NRG3	10718	broad.mit.edu	37	10	84745314	84745314	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:84745314T>A	ENST00000404547.1	+	10	2116	c.2116T>A	c.(2116-2118)Ttt>Att	p.F706I	NRG3_ENST00000537893.1_Missense_Mutation_p.F332I|NRG3_ENST00000372142.2_Missense_Mutation_p.F485I|NRG3_ENST00000556918.1_Missense_Mutation_p.F512I|NRG3_ENST00000545131.1_Missense_Mutation_p.F332I|NRG3_ENST00000372141.2_Missense_Mutation_p.F682I|NRG3_ENST00000404576.2_Missense_Mutation_p.F486I			P56975	NRG3_HUMAN	neuregulin 3	706					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGAGGCGCAATTTGTCTTAAG	0.468																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1453-1455)Ttt>Att		neuregulin 3							76.0	74.0	75.0					10																	84745314		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745314T>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2116T>A	10.37:g.84745314T>A	ENSP00000384796:p.Phe706Ile					NRG3_ENST00000556918.1_Missense_Mutation_p.F512I|NRG3_ENST00000372141.2_Missense_Mutation_p.F682I|NRG3_ENST00000404576.2_Missense_Mutation_p.F486I|NRG3_ENST00000545131.1_Missense_Mutation_p.F332I|NRG3_ENST00000537893.1_Missense_Mutation_p.F332I|NRG3_ENST00000404547.1_Missense_Mutation_p.F706I	p.F485I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	11	1727	+			706					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1453T>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770935	0.49680	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.62788	0.65;0.51;0.56;0.0;0.57;0.19;0.19	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	T	0.73187	0.3555	L	0.50333	1.59	0.48762	D	0.999703	P;P;D;P	0.61080	0.952;0.952;0.989;0.952	P;P;D;P	0.75020	0.487;0.487;0.985;0.487	T	0.75975	-0.3128	10	0.87932	D	0	-30.4854	13.2219	0.59892	0.0:0.0:0.0:1.0	.	681;706;485;682	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	I	682;706;681;485;486;512;332;332	ENSP00000361214:F682I;ENSP00000384796:F706I;ENSP00000361215:F485I;ENSP00000385804:F486I;ENSP00000451376:F512I;ENSP00000441201:F332I;ENSP00000440377:F332I	ENSP00000361214:F682I	F	+	1	0	NRG3	84735294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.816000	0.55658	2.076000	0.62316	0.482000	0.46254	TTT		0.468	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		32	51	0	0	0	1	0	32	51				
SCN8A	6334	broad.mit.edu	37	12	52115650	52115650	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52115650C>T	ENST00000354534.6	+	12	2134	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	SCN8A_ENST00000550891.1_Silent_p.I652I|SCN8A_ENST00000545061.1_Silent_p.I652I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	652					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGTCCCTCATCGGCGGCCCCG	0.622																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1954-1956)atC>atT		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						41.0	47.0	45.0					12																	52115650		1966	4071	6037	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52115650C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1956C>T	12.37:g.52115650C>T						SCN8A_ENST00000550891.1_Silent_p.I652I|SCN8A_ENST00000545061.1_Silent_p.I652I	p.I652I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	12	2134	+			652					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.1956C>T	CCDS44891.1																																																																																				0.622	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		27	34	0	0	0	1	0	27	34				
ZC3H6	376940	broad.mit.edu	37	2	113079393	113079393	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113079393A>C	ENST00000409871.1	+	8	1438	c.1037A>C	c.(1036-1038)aAa>aCa	p.K346T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.K346T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	346							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GACAACTGTAAATTTTCCCAT	0.308																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(1036-1038)aAa>aCa		zinc finger CCCH-type containing 6							46.0	41.0	43.0					2																	113079393		1801	4068	5869	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113079393A>C	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1037A>C	2.37:g.113079393A>C	ENSP00000386764:p.Lys346Thr					ZC3H6_ENST00000343936.4_Missense_Mutation_p.K346T	p.K346T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			8	1438	+			346					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.1037A>C	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752741	0.89753	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.40756	1.02;1.02	5.54	5.54	0.83059	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	L	0.52759	1.655	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.57917	-0.7728	10	0.46703	T	0.11	-25.9529	15.9801	0.80102	1.0:0.0:0.0:0.0	.	346	P61129	ZC3H6_HUMAN	T	346;346;323	ENSP00000386764:K346T;ENSP00000340298:K346T	ENSP00000340298:K346T	K	+	2	0	ZC3H6	112795864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.887000	0.92456	2.230000	0.72887	0.528000	0.53228	AAA		0.308	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		5	7	0	0	0	1	0	5	7				
CHRNA1	1134	broad.mit.edu	37	2	175622306	175622306	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175622306A>G	ENST00000261007.5	-	5	473	c.407T>C	c.(406-408)gTt>gCt	p.V136A	CHRNA1_ENST00000409219.1_Missense_Mutation_p.V111A|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V111A|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V111A|CHRNA1_ENST00000409542.1_Intron	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	136					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GTTATAGAGAACAAGGTCTGG	0.488																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(331-333)gTt>gCt		cholinergic receptor, nicotinic, alpha 1 (muscle)							61.0	61.0	61.0					2																	175622306		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175622306A>G	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.407T>C	2.37:g.175622306A>G	ENSP00000261007:p.Val136Ala					CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V111A|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V111A|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V136A|AC018890.6_ENST00000442996.1_RNA	p.V111A	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			4	409	-			136					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.332T>C	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419709	0.83559	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409219;ENST00000409323	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	6.08	4.92	0.64577	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	M	0.80332	2.49	0.80722	D	1	P;B;B	0.41008	0.735;0.066;0.047	P;B;B	0.46940	0.532;0.148;0.171	D	0.86160	0.1593	10	0.87932	D	0	.	13.5945	0.61982	0.8703:0.1296:0.0:0.0	.	111;111;136	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	A	111;136;111;111	ENSP00000261008:V111A;ENSP00000261007:V136A;ENSP00000386611:V111A;ENSP00000386684:V111A	ENSP00000261007:V136A	V	-	2	0	CHRNA1	175330552	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	9.241000	0.95402	1.106000	0.41623	0.482000	0.46254	GTT		0.488	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			8	19	0	0	0	1	0	8	19				
MTHFS	10588	broad.mit.edu	37	15	80137599	80137599	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:80137599C>T	ENST00000258874.3	-	3	625	c.565G>A	c.(565-567)Gac>Aac	p.D189N	ST20-MTHFS_ENST00000494999.1_5'Flank|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.D165N|RP11-38G5.4_ENST00000567415.1_lincRNA	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	189					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)	p.D189N(1)		endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		ACCTTCATGTCGTTTTCATTC	0.433																																						ENST00000258874.3																			1	Substitution - Missense(1)	p.D189N(1)	large_intestine(1)	endometrium(3)|large_intestine(1)|liver(1)	5						c.(565-567)Gac>Aac		5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)							161.0	143.0	149.0					15																	80137599		2203	4300	6503	SO:0001583	missense	10588				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding	g.chr15:80137599C>T	L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.565G>A	15.37:g.80137599C>T	ENSP00000258874:p.Asp189Asn					ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.D165N	p.D189N	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN		all cancers(203;0.00467)	3	625	-			189					H3BQ75	Missense_Mutation	SNP	ENST00000258874.3	37	c.565G>A	CCDS10311.1	.	.	.	.	.	.	.	.	.	.	C	36	5.688327	0.96784	.	.	ENSG00000136371	ENST00000258874	D	0.95980	-3.87	6.03	6.03	0.97812	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.97491	4.015	0.80722	D	1	D	0.59767	0.986	P	0.51487	0.671	D	0.98858	1.0761	10	0.87932	D	0	-38.9945	20.5666	0.99351	0.0:1.0:0.0:0.0	.	189	P49914	MTHFS_HUMAN	N	189	ENSP00000258874:D189N	ENSP00000258874:D189N	D	-	1	0	MTHFS	77924654	1.000000	0.71417	0.453000	0.27007	0.966000	0.64601	7.111000	0.77077	2.854000	0.98071	0.655000	0.94253	GAC		0.433	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291374.2	NM_006441		13	78	0	0	0	1	0	13	78				
PNCK	139728	broad.mit.edu	37	X	152936421	152936421	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152936421C>T	ENST00000370150.1	-	9	936	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	PNCK_ENST00000340888.3_Missense_Mutation_p.R253Q|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370145.4_Missense_Mutation_p.R270Q|PNCK_ENST00000447676.2_Missense_Mutation_p.R336Q|PNCK_ENST00000370142.1_Missense_Mutation_p.R276Q|PNCK_ENST00000393831.2_Missense_Mutation_p.R276Q			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGTCTCGCTCCAGAAG	0.642																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(826-828)cGa>cAa		pregnancy up-regulated nonubiquitous CaM kinase							60.0	58.0	59.0					X																	152936421		2203	4300	6503	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936421C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.758G>A	X.37:g.152936421C>T	ENSP00000359169:p.Arg253Gln					PNCK_ENST00000340888.3_Missense_Mutation_p.R253Q|PNCK_ENST00000447676.2_Missense_Mutation_p.R336Q|PNCK_ENST00000370145.4_Missense_Mutation_p.R270Q|PNCK_ENST00000370142.1_Missense_Mutation_p.R276Q|PNCK_ENST00000370150.1_Missense_Mutation_p.R253Q	p.R276Q	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			9	1261	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		253					B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.827G>A		.	.	.	.	.	.	.	.	.	.	c	17.87	3.494414	0.64186	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	4.4	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000068	T	0.42154	0.1190	L	0.52759	1.655	0.34398	D	0.694911	D;D;D	0.76494	0.999;0.993;0.993	P;P;P	0.61940	0.896;0.738;0.738	T	0.57763	-0.7755	10	0.56958	D	0.05	-5.5925	15.2604	0.73617	0.0:1.0:0.0:0.0	.	336;270;253	Q6P2M8-5;B4E1A6;Q6P2M8	.;.;KCC1B_HUMAN	Q	253;253;276;276;270;336	ENSP00000340586:R253Q;ENSP00000359169:R253Q;ENSP00000377417:R276Q;ENSP00000359161:R276Q;ENSP00000359164:R270Q;ENSP00000405950:R336Q	ENSP00000340586:R253Q	R	-	2	0	PNCK	152589615	0.995000	0.38212	0.895000	0.35142	0.948000	0.59901	2.127000	0.42035	1.924000	0.55735	0.529000	0.55759	CGA		0.642	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		40	73	0	0	0	1	0	40	73				
CTNNA2	1496	broad.mit.edu	37	2	80646632	80646632	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:80646632T>C	ENST00000402739.4	+	8	1201	c.1196T>C	c.(1195-1197)tTg>tCg	p.L399S	CTNNA2_ENST00000361291.4_Missense_Mutation_p.L433S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L78S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000466387.1_Missense_Mutation_p.L399S	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	399					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AATGTTCCTTTGCTAGTTCTC	0.393																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1195-1197)tTg>tCg		catenin (cadherin-associated protein), alpha 2							122.0	118.0	119.0					2																	80646632		1976	4191	6167	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80646632T>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1196T>C	2.37:g.80646632T>C	ENSP00000384638:p.Leu399Ser					CTNNA2_ENST00000402739.4_Missense_Mutation_p.L399S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L433S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L78S	p.L399S			P26232	CTNA2_HUMAN			13	1920	+			399					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1196T>C		.	.	.	.	.	.	.	.	.	.	T	26.4	4.731038	0.89390	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	T	0.78336	0.4267	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.997	T	0.82659	-0.0348	9	.	.	.	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	31;399;399;399	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	S	399;399;433;399;399;399;78;64	ENSP00000418191:L399S;ENSP00000419295:L399S;ENSP00000355398:L433S;ENSP00000384638:L399S;ENSP00000444675:L399S;ENSP00000441705:L399S;ENSP00000341500:L78S;ENSP00000386587:L64S	.	L	+	2	0	CTNNA2	80500143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	TTG		0.393	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		24	51	0	0	0	1	0	24	51				
BAZ2B	29994	broad.mit.edu	37	2	160289317	160289317	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160289317T>G	ENST00000392783.2	-	9	2346	c.1851A>C	c.(1849-1851)gaA>gaC	p.E617D	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E615D|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E615D|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E617D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	617	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						cctcatcttcttcttcatcat	0.333																																						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.(1849-1851)gaA>gaC		bromodomain adjacent to zinc finger domain, 2B							75.0	74.0	74.0					2																	160289317		1993	4196	6189	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289317T>G	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.1851A>C	2.37:g.160289317T>G	ENSP00000376534:p.Glu617Asp					BAZ2B_ENST00000392782.1_Missense_Mutation_p.E615D|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E617D|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E615D	p.E617D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			9	2346	-			617			Asp/Glu-rich (acidic).		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1851A>C	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.733|9.733	1.162671|1.162671	0.21538|0.21538	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000546335	T;T;T;T|.	0.55930|.	3.77;0.49;3.77;3.77|.	5.81|5.81	3.4|3.4	0.38934|0.38934	.|.	0.657383|.	0.11698|.	U|.	0.538246|.	T|T	0.22975|0.22975	0.0555|0.0555	N|N	0.17082|0.17082	0.46|0.46	0.24648|0.24648	N|N	0.993537|0.993537	B;B;B;B;B|.	0.11235|.	0.004;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.13407|.	0.009;0.001;0.002;0.001;0.001|.	T|T	0.20672|0.20672	-1.0268|-1.0268	10|6	0.42905|0.59425	T|D	0.14|0.04	-15.0902|-15.0902	3.9189|3.9189	0.09234|0.09234	0.1791:0.2301:0.0:0.5908|0.1791:0.2301:0.0:0.5908	.|.	617;421;615;615;617|.	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8|.	.;.;.;.;BAZ2B_HUMAN|.	D|T	615;617;617;615|517	ENSP00000376533:E615D;ENSP00000376534:E617D;ENSP00000348087:E617D;ENSP00000339670:E615D|.	ENSP00000339670:E615D|ENSP00000437619:K517T	E|K	-|-	3|2	2|0	BAZ2B|BAZ2B	159997563|159997563	0.221000|0.221000	0.23642|0.23642	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	-0.521000|-0.521000	0.06245|0.06245	0.450000|0.450000	0.26774|0.26774	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.333	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			9	18	0	0	0	1	0	9	18				
SAMD9L	219285	broad.mit.edu	37	7	92761694	92761694	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92761694G>T	ENST00000318238.4	-	5	4807	c.3591C>A	c.(3589-3591)ttC>ttA	p.F1197L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.F1197L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.F1197L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1197					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCACCCAAGAAACAAGCTG	0.378																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3589-3591)ttC>ttA		sterile alpha motif domain containing 9-like							147.0	144.0	145.0					7																	92761694		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92761694G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3591C>A	7.37:g.92761694G>T	ENSP00000326247:p.Phe1197Leu					SAMD9L_ENST00000411955.1_Missense_Mutation_p.F1197L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.F1197L	p.F1197L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4807	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1197					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3591C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854531	0.32791	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.22743	1.94;1.94;1.94	4.88	0.979	0.19745	.	0.369738	0.25414	N	0.030854	T	0.20700	0.0498	L	0.51422	1.61	0.09310	N	1	P	0.52316	0.952	P	0.45753	0.492	T	0.09684	-1.0663	10	0.72032	D	0.01	-11.7803	8.0759	0.30716	0.5504:0.0:0.4496:0.0	.	1197	Q8IVG5	SAM9L_HUMAN	L	1197	ENSP00000326247:F1197L;ENSP00000405760:F1197L;ENSP00000408796:F1197L	ENSP00000326247:F1197L	F	-	3	2	SAMD9L	92599630	0.947000	0.32204	0.233000	0.24025	0.313000	0.28021	2.052000	0.41316	0.263000	0.21812	0.467000	0.42956	TTC		0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		42	68	1	0	1.15505e-17	1	1.55342e-17	42	68				
C20orf196	149840	broad.mit.edu	37	20	5843907	5843907	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5843907A>G	ENST00000303142.6	+	3	503	c.416A>G	c.(415-417)aAg>aGg	p.K139R		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	139										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GAGAGCCAAAAGTATGCCCTC	0.537																																						ENST00000303142.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(415-417)aAg>aGg		chromosome 20 open reading frame 196							55.0	53.0	54.0					20																	5843907		2203	4300	6503	SO:0001583	missense	149840							g.chr20:5843907A>G	AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.416A>G	20.37:g.5843907A>G	ENSP00000305875:p.Lys139Arg						p.K139R	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN			3	503	+			139					A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	c.416A>G	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	A	8.499	0.863915	0.17250	.	.	ENSG00000171984	ENST00000303142;ENST00000378971;ENST00000442185	T;T	0.48522	0.81;0.81	5.64	-10.1	0.00402	.	0.951703	0.08791	N	0.893194	T	0.22360	0.0539	N	0.25890	0.77	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.07443	-1.0772	10	0.19590	T	0.45	-15.4992	3.9245	0.09257	0.2116:0.426:0.2644:0.098	.	139	Q8IYI0	CT196_HUMAN	R	139;139;186	ENSP00000305875:K139R;ENSP00000410534:K186R	ENSP00000305875:K139R	K	+	2	0	C20orf196	5791907	0.020000	0.18652	0.000000	0.03702	0.236000	0.25371	-0.101000	0.10973	-2.535000	0.00489	-1.303000	0.01326	AAG		0.537	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		22	35	0	0	0	1	0	22	35				
C20orf195	79025	broad.mit.edu	37	20	62187416	62187416	+	Missense_Mutation	SNP	G	G	A	rs143315774	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62187416G>A	ENST00000370098.3	+	2	492	c.400G>A	c.(400-402)Gac>Aac	p.D134N	C20orf195_ENST00000370097.1_Missense_Mutation_p.D134N	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	134						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGAACAGCTCGACCATGGCCG	0.667																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(400-402)Gac>Aac		chromosome 20 open reading frame 195							56.0	54.0	55.0					20																	62187416		2201	4300	6501	SO:0001583	missense	79025							g.chr20:62187416G>A		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.400G>A	20.37:g.62187416G>A	ENSP00000359116:p.Asp134Asn					C20orf195_ENST00000370097.1_Missense_Mutation_p.D134N	p.D134N	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	492	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		134						Missense_Mutation	SNP	ENST00000370098.3	37	c.400G>A	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956458	0.53293	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	5.47	0.80525	.	0.226046	0.31370	N	0.007764	T	0.34193	0.0889	L	0.29908	0.895	0.31491	N	0.665933	P	0.46327	0.876	B	0.39738	0.308	T	0.47586	-0.9106	9	0.66056	D	0.02	-29.7679	16.3589	0.83246	0.0:0.1317:0.8682:0.0	.	134	Q9BVV2	CT195_HUMAN	N	134	.	ENSP00000359115:D134N	D	+	1	0	C20orf195	61657860	1.000000	0.71417	0.994000	0.49952	0.084000	0.17831	2.301000	0.43628	2.573000	0.86826	0.655000	0.94253	GAC		0.667	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		17	36	0	0	0	1	0	17	36				
CRB1	23418	broad.mit.edu	37	1	197446978	197446978	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197446978T>C	ENST00000367400.3	+	12	4325	c.4190T>C	c.(4189-4191)aTg>aCg	p.M1397T	CRB1_ENST00000538660.1_Missense_Mutation_p.M861T|CRB1_ENST00000535699.1_Missense_Mutation_p.M1373T|CRB1_ENST00000367399.2_Missense_Mutation_p.M1285T|CRB1_ENST00000544212.1_Missense_Mutation_p.M878T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1397					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGAACTTGATGCCACCCCCT	0.522																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(4189-4191)aTg>aCg		crumbs homolog 1 (Drosophila)							100.0	100.0	100.0					1																	197446978		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197446978T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.4190T>C	1.37:g.197446978T>C	ENSP00000356370:p.Met1397Thr					CRB1_ENST00000367399.2_Missense_Mutation_p.M1285T|CRB1_ENST00000535699.1_Missense_Mutation_p.M1373T|CRB1_ENST00000538660.1_Missense_Mutation_p.M861T|CRB1_ENST00000544212.1_Missense_Mutation_p.M878T	p.M1397T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			12	4325	+			1397					A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.4190T>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098183	0.37048	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212	D;D;D;D;D	0.86769	-1.82;-2.01;-1.67;-2.17;-1.98	5.61	-1.89	0.07689	.	.	.	.	.	T	0.78597	0.4308	L	0.41710	1.295	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.63292	-0.6670	9	0.51188	T	0.08	.	6.0477	0.19770	0.0:0.1834:0.2381:0.5784	.	861;1373;1285;1397	B7Z5T2;F5H0L2;P82279-3;P82279	.;.;.;CRUM1_HUMAN	T	1373;861;1397;1285;878	ENSP00000438786:M1373T;ENSP00000438091:M861T;ENSP00000356370:M1397T;ENSP00000356369:M1285T;ENSP00000444556:M878T	ENSP00000356369:M1285T	M	+	2	0	CRB1	195713601	0.998000	0.40836	0.000000	0.03702	0.464000	0.32679	0.612000	0.24283	-0.615000	0.05679	0.524000	0.50904	ATG		0.522	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		26	41	0	0	0	1	0	26	41				
UCP3	7352	broad.mit.edu	37	11	73717235	73717235	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:73717235A>G	ENST00000314032.4	-	3	868	c.316T>C	c.(316-318)Tac>Cac	p.Y106H	UCP3_ENST00000348534.4_Missense_Mutation_p.Y106H|UCP3_ENST00000426995.2_Missense_Mutation_p.Y106H	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	106					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TTGGGGGTGTACACCTGCTTG	0.612																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(316-318)Tac>Cac		uncoupling protein 3 (mitochondrial, proton carrier)							44.0	43.0	43.0					11																	73717235		2200	4293	6493	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73717235A>G	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.316T>C	11.37:g.73717235A>G	ENSP00000323740:p.Tyr106His					UCP3_ENST00000426995.2_Missense_Mutation_p.Y106H|UCP3_ENST00000348534.4_Missense_Mutation_p.Y106H	p.Y106H	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			3	868	-	Breast(11;2.08e-05)		106					O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.316T>C	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699920	0.68501	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995	T;T;T	0.79653	-1.29;-1.29;-1.29	5.76	5.76	0.90799	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	M	0.87328	2.875	0.52099	D	0.999947	D	0.76494	0.999	D	0.85130	0.997	D	0.92409	0.5936	10	0.87932	D	0	-8.4173	15.7314	0.77807	1.0:0.0:0.0:0.0	.	106	P55916	UCP3_HUMAN	H	106	ENSP00000323740:Y106H;ENSP00000343615:Y106H;ENSP00000392143:Y106H	ENSP00000323740:Y106H	Y	-	1	0	UCP3	73394883	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	9.255000	0.95524	2.200000	0.70718	0.459000	0.35465	TAC		0.612	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		6	31	0	0	0	1	0	6	31				
DDX55	57696	broad.mit.edu	37	12	124104541	124104541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124104541G>T	ENST00000238146.4	+	14	1707	c.1657G>T	c.(1657-1659)Gaa>Taa	p.E553*	DDX55_ENST00000421670.3_Nonsense_Mutation_p.E160*|DDX55_ENST00000538744.1_Nonsense_Mutation_p.E522*	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	553	Lys-rich.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GGACATGGAAGAACTTCTTAA	0.343																																						ENST00000238146.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1657-1659)Gaa>Taa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							94.0	100.0	98.0					12																	124104541		2203	4300	6503	SO:0001587	stop_gained	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124104541G>T	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1657G>T	12.37:g.124104541G>T	ENSP00000238146:p.Glu553*					DDX55_ENST00000538744.1_Nonsense_Mutation_p.E522*|DDX55_ENST00000421670.3_Nonsense_Mutation_p.E160*	p.E553*	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	14	1707	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		553			Lys-rich.		Q658L6|Q8IYH0|Q9HCH7	Nonsense_Mutation	SNP	ENST00000238146.4	37	c.1657G>T	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	37	6.029569	0.97216	.	.	ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670	.	.	.	5.6	5.6	0.85130	.	0.551333	0.21164	N	0.079110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-32.9666	19.6081	0.95588	0.0:0.0:1.0:0.0	.	.	.	.	X	553;522;160	.	ENSP00000238146:E553X	E	+	1	0	DDX55	122670494	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.917000	0.92751	2.628000	0.89032	0.549000	0.68633	GAA		0.343	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			25	40	1	0	1.64293e-13	1	2.10822e-13	25	40				
SEPT8	23176	broad.mit.edu	37	5	132099413	132099413	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132099413C>A	ENST00000378719.2	-	4	756	c.519G>T	c.(517-519)aaG>aaT	p.K173N	SEPT8_ENST00000378701.1_Missense_Mutation_p.K171N|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000296873.7_Missense_Mutation_p.K173N|SEPT8_ENST00000448933.1_Missense_Mutation_p.K113N|SEPT8_ENST00000378706.1_Missense_Mutation_p.K173N|SEPT8_ENST00000378699.2_Missense_Mutation_p.K113N|SEPT8_ENST00000378721.4_Missense_Mutation_p.K171N|SEPT8_ENST00000458488.2_Missense_Mutation_p.K173N	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	173	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTAGTTTCTTCATGGTCA	0.537																																						ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(517-519)aaG>aaT		septin 8							188.0	194.0	192.0					5																	132099413		2083	4229	6312	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132099413C>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.519G>T	5.37:g.132099413C>A	ENSP00000367991:p.Lys173Asn					SEPT8_ENST00000378701.1_Missense_Mutation_p.K171N|SEPT8_ENST00000458488.2_Missense_Mutation_p.K173N|SEPT8_ENST00000378721.4_Missense_Mutation_p.K171N|SEPT8_ENST00000378706.1_Missense_Mutation_p.K173N|SEPT8_ENST00000378719.2_Missense_Mutation_p.K173N|SEPT8_ENST00000448933.1_Missense_Mutation_p.K113N|SEPT8_ENST00000378699.2_Missense_Mutation_p.K113N	p.K173N	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	802	-		all_cancers(142;0.0751)|Breast(839;0.198)	173					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.519G>T	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403775	0.62288	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488;ENST00000453480	T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.17	2.42	0.29668	.	0.000000	0.85682	D	0.000000	D	0.83876	0.5349	H	0.99312	4.51	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85935	0.1454	10	0.87932	D	0	.	9.912	0.41411	0.0:0.7788:0.0:0.2212	.	171;171;173;173	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	N	173;171;173;113;173;113;171;173;111	ENSP00000367991:K173N;ENSP00000367993:K171N;ENSP00000296873:K173N;ENSP00000399840:K113N;ENSP00000367978:K173N;ENSP00000367971:K113N;ENSP00000367973:K171N;ENSP00000394766:K173N;ENSP00000407421:K111N	ENSP00000296873:K173N	K	-	3	2	SEPT8	132127312	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	3.091000	0.50199	0.579000	0.29504	0.591000	0.81541	AAG		0.537	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		95	168	1	0	7.0627e-44	1	1.02276e-43	95	168				
STAG3	10734	broad.mit.edu	37	7	99798886	99798886	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99798886G>A	ENST00000426455.1	+	21	2539		c.e21-1		STAG3_ENST00000394018.2_Splice_Site|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_Splice_Site|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000317296.5_Splice_Site	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3						chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCCCAAAGCACTCATGAC	0.532																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.e21-1		stromal antigen 3							110.0	110.0	110.0					7																	99798886		2203	4300	6503	SO:0001630	splice_region_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99798886G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2133-1G>A	7.37:g.99798886G>A						GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Splice_Site|STAG3_ENST00000440830.1_Splice_Site|STAG3_ENST00000394018.2_Splice_Site				Q9UJ98	STAG3_HUMAN			21	2539	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)							A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Splice_Site	SNP	ENST00000426455.1	37		CCDS34703.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076662	0.76415	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6284	0.88099	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG3	99636822	1.000000	0.71417	0.911000	0.35937	0.887000	0.51463	9.107000	0.94261	2.765000	0.95021	0.655000	0.94253	.		0.532	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	Intron	28	78	0	0	0	1	0	28	78				
TMEM259	91304	broad.mit.edu	37	19	1012473	1012473	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1012473A>C	ENST00000356663.3	-	4	828	c.707T>G	c.(706-708)gTg>gGg	p.V236G	TMEM259_ENST00000333175.5_Missense_Mutation_p.V236G	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	236						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CAGGGTGACCACCATGACGGG	0.677																																						ENST00000356663.3																			0											c.(706-708)gTg>gGg		transmembrane protein 259							27.0	27.0	27.0					19																	1012473		2190	4296	6486	SO:0001583	missense	91304							g.chr19:1012473A>C	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.707T>G	19.37:g.1012473A>C	ENSP00000349087:p.Val236Gly					TMEM259_ENST00000333175.5_Missense_Mutation_p.V236G	p.V236G	NM_001033026.1	NP_001028198.1					4	828	-								O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	c.707T>G	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780256	0.70222	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.06	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.69823	2.125	0.80722	D	1	D;P	0.57257	0.979;0.947	P;P	0.59357	0.723;0.856	T	0.73547	-0.3948	9	0.62326	D	0.03	-10.9053	12.3146	0.54948	1.0:0.0:0.0:0.0	.	236;236	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	G	236	.	ENSP00000331423:V236G	V	-	2	0	C19orf6	963473	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.279000	0.89901	1.698000	0.51180	0.379000	0.24179	GTG		0.677	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		4	10	0	0	0	1	0	4	10				
LOC645166	645166	broad.mit.edu	37	1	148932813	148932813	+	lincRNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:148932813C>T	ENST00000539543.1	+	0	69					NR_027355.2																						CAAGCTAGCCCGCCAGGCCTC	0.602																																						ENST00000539543.1																			0																																																			0							g.chr1:148932813C>T																													1.37:g.148932813C>T								NR_027355.1						0	69	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.602	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				18	185	0	0	0	1	0	18	185				
RLIM	51132	broad.mit.edu	37	X	73811355	73811355	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:73811355G>A	ENST00000332687.6	-	4	2013	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	RLIM_ENST00000349225.2_Missense_Mutation_p.R599C	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	599					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATAACCAGCGATCGATGCAG	0.408																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1795-1797)Cgc>Tgc		ring finger protein, LIM domain interacting							120.0	97.0	105.0					X																	73811355		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811355G>A	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1795C>T	X.37:g.73811355G>A	ENSP00000328059:p.Arg599Cys					RLIM_ENST00000349225.2_Missense_Mutation_p.R599C	p.R599C	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	2013	-			599					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1795C>T	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525110	0.64747	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.67865	-0.29;-0.29	5.41	5.41	0.78517	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83418	0.0031	10	0.87932	D	0	-2.596	18.3592	0.90370	0.0:0.0:1.0:0.0	.	599	Q9NVW2	RNF12_HUMAN	C	599	ENSP00000328059:R599C;ENSP00000253571:R599C	ENSP00000328059:R599C	R	-	1	0	RLIM	73728080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.275000	0.75901	0.600000	0.82982	CGC		0.408	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		37	47	0	0	0	1	0	37	47				
TP73	7161	broad.mit.edu	37	1	3624317	3624317	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3624317T>G	ENST00000378295.4	+	4	546	c.391T>G	c.(391-393)Ttc>Gtc	p.F131V	TP73_ENST00000603362.1_Missense_Mutation_p.F131V|TP73_ENST00000378288.4_Missense_Mutation_p.F82V|TP73_ENST00000346387.4_Missense_Mutation_p.F131V|TP73_ENST00000354437.4_Missense_Mutation_p.F131V|TP73_ENST00000357733.3_Missense_Mutation_p.F131V|TP73_ENST00000378290.4_Missense_Mutation_p.F60V|TP73_ENST00000378285.1_Missense_Mutation_p.F82V|TP73_ENST00000378280.1_Missense_Mutation_p.F82V|TP73_ENST00000604074.1_Missense_Mutation_p.F131V|TP73_ENST00000604479.1_Missense_Mutation_p.F131V	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	131	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGAGGTCACTTTCCAGCAGTC	0.662																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(391-393)Ttc>Gtc		tumor protein p73							53.0	49.0	50.0					1																	3624317		2202	4300	6502	SO:0001583	missense	7161				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3624317T>G	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.391T>G	1.37:g.3624317T>G	ENSP00000367545:p.Phe131Val					TP73_ENST00000603362.1_Missense_Mutation_p.F131V|TP73_ENST00000346387.4_Missense_Mutation_p.F131V|TP73_ENST00000378290.4_Missense_Mutation_p.F60V|TP73_ENST00000604479.1_Missense_Mutation_p.F131V|TP73_ENST00000604074.1_Missense_Mutation_p.F131V|TP73_ENST00000378280.1_Missense_Mutation_p.F82V|TP73_ENST00000378285.1_Missense_Mutation_p.F82V|TP73_ENST00000378288.4_Missense_Mutation_p.F82V|TP73_ENST00000357733.3_Missense_Mutation_p.F131V|TP73_ENST00000354437.4_Missense_Mutation_p.F131V	p.F131V	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	4	546	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	131			DNA-binding (Potential).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.391T>G	CCDS49.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.764335	0.89932	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	4.6	4.6	0.57074	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.111829	0.64402	D	0.000007	D	0.99799	0.9914	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.999;0.996;0.992;0.999;0.997	D	0.96649	0.9480	10	0.87932	D	0	-27.4102	13.1593	0.59535	0.0:0.0:0.0:1.0	.	82;60;82;82;82;131;131	B7Z8Z1;B7Z7J4;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;.;P73_HUMAN	V	131;131;131;131;82;82;82;60	ENSP00000367545:F131V;ENSP00000346423:F131V;ENSP00000350366:F131V;ENSP00000340740:F131V;ENSP00000367537:F82V;ENSP00000367534:F82V;ENSP00000367529:F82V;ENSP00000367539:F60V	ENSP00000340740:F131V	F	+	1	0	TP73	3614177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.889000	0.87307	1.704000	0.51252	0.402000	0.26972	TTC		0.662	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		6	71	0	0	0	1	0	6	71				
USH2A	7399	broad.mit.edu	37	1	215802207	215802207	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215802207G>T	ENST00000307340.3	-	71	15854	c.15468C>A	c.(15466-15468)gtC>gtA	p.V5156V	SNORD116_ENST00000365628.1_RNA|USH2A_ENST00000366943.2_Silent_p.V5180V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5156					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTCCATCAAGACTTTCTTGT	0.502										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15538-15540)gtC>gtA		Usher syndrome 2A (autosomal recessive, mild)							106.0	105.0	105.0					1																	215802207		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215802207G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15468C>A	1.37:g.215802207G>T		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.V5156V	p.V5180V			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	72	15926	-			5156					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.15540C>A	CCDS31025.1																																																																																				0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		33	51	1	0	6.90743e-12	1	8.65044e-12	33	51				
ZNF300	91975	broad.mit.edu	37	5	150278113	150278113	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150278113A>G	ENST00000274599.5	-	4	439	c.19T>C	c.(19-21)Tta>Cta	p.L7L	ZNF300_ENST00000427179.1_Silent_p.L7L|ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000394226.2_Silent_p.L7L|ZNF300_ENST00000446148.2_Silent_p.L23L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGATACTAACCCCTGTAAT	0.418																																						ENST00000427179.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(19-21)Tta>Cta		zinc finger protein 300							95.0	100.0	98.0					5																	150278113		2203	4299	6502	SO:0001819	synonymous_variant	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150278113A>G	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.19T>C	5.37:g.150278113A>G						ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000446148.2_Silent_p.L23L|ZNF300_ENST00000394226.2_Silent_p.L7L|ZNF300_ENST00000274599.5_Silent_p.L7L	p.L7L			Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	245	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	7					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	ENST00000274599.5	37	c.19T>C	CCDS4311.2																																																																																				0.418	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		17	91	0	0	0	1	0	17	91				
APC2	10297	broad.mit.edu	37	19	1453536	1453536	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1453536C>T	ENST00000535453.1	+	3	2052	c.339C>T	c.(337-339)tcC>tcT	p.S113S	APC2_ENST00000238483.4_Silent_p.S113S|APC2_ENST00000233607.2_Silent_p.S113S			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACACGGCTCCGGGCCCTCCA	0.692																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(337-339)tcC>tcT		adenomatosis polyposis coli 2							12.0	18.0	16.0					19																	1453536		2187	4279	6466	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1453536C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.339C>T	19.37:g.1453536C>T						APC2_ENST00000238483.4_Silent_p.S113S|APC2_ENST00000233607.2_Silent_p.S113S	p.S113S			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	2052	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	113					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.339C>T	CCDS12068.1																																																																																				0.692	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		13	36	0	0	0	1	0	13	36				
SSPO	23145	broad.mit.edu	37	7	149491951	149491951	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:149491951T>G	ENST00000378016.2	+	0	6152							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGATCAGATTCCCTTTGGCC	0.612																																						ENST00000378016.2																			0													SCO-spondin							51.0	60.0	57.0					7																	149491951		2083	4240	6323			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149491951T>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149491951T>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6152	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				28	45	0	0	0	1	0	28	45				
IL1RAPL1	11141	broad.mit.edu	37	X	29959904	29959904	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29959904C>T	ENST00000378993.1	+	9	1867	c.1194C>T	c.(1192-1194)ctC>ctT	p.L398L	IL1RAPL1_ENST00000302196.4_Silent_p.L398L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	398					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGAAGAGCTCGATGGAGGTA	0.358																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1192-1194)ctC>ctT		interleukin 1 receptor accessory protein-like 1							153.0	124.0	134.0					X																	29959904		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29959904C>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1194C>T	X.37:g.29959904C>T						IL1RAPL1_ENST00000302196.4_Silent_p.L398L	p.L398L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			9	1867	+			398					A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.1194C>T	CCDS14218.1																																																																																				0.358	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		18	49	0	0	0	1	0	18	49				
COL27A1	85301	broad.mit.edu	37	9	117027726	117027726	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:117027726C>A	ENST00000356083.3	+	32	3755	c.3364C>A	c.(3364-3366)Cca>Aca	p.P1122T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1122	Collagen-like 8.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCAGGCCCCCCAGGCACCAA	0.612																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3364-3366)Cca>Aca		collagen, type XXVII, alpha 1							55.0	50.0	52.0					9																	117027726		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117027726C>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3364C>A	9.37:g.117027726C>A	ENSP00000348385:p.Pro1122Thr						p.P1122T	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			32	3755	+			1122			Collagen-like 8.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3364C>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066400	0.36470	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96651	-4.08	5.25	5.25	0.73442	.	.	.	.	.	D	0.96800	0.8955	L	0.49350	1.555	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.95050	0.8186	9	0.17369	T	0.5	.	14.3498	0.66694	0.0:1.0:0.0:0.0	.	1122	Q8IZC6	CORA1_HUMAN	T	1122	ENSP00000348385:P1122T	ENSP00000348385:P1122T	P	+	1	0	COL27A1	116067547	0.451000	0.25705	0.930000	0.37139	0.995000	0.86356	2.445000	0.44899	2.460000	0.83146	0.591000	0.81541	CCA		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		4	35	1	0	0.184627	1	0.185817	4	35				
PLK4	10733	broad.mit.edu	37	4	128814548	128814548	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:128814548A>C	ENST00000270861.5	+	11	2571	c.2297A>C	c.(2296-2298)aAa>aCa	p.K766T	RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000515069.1_Missense_Mutation_p.K688T|PLK4_ENST00000513090.1_Missense_Mutation_p.K734T|PLK4_ENST00000507249.1_Missense_Mutation_p.K705T|PLK4_ENST00000514379.1_Missense_Mutation_p.K725T	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	766					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGGAGATAAAAATGTATATG	0.318																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2296-2298)aAa>aCa		polo-like kinase 4							87.0	89.0	88.0					4																	128814548		2202	4300	6502	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128814548A>C	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2297A>C	4.37:g.128814548A>C	ENSP00000270861:p.Lys766Thr					PLK4_ENST00000507249.1_Missense_Mutation_p.K705T|PLK4_ENST00000513090.1_Missense_Mutation_p.K734T|PLK4_ENST00000515069.1_Missense_Mutation_p.K688T|PLK4_ENST00000514379.1_Missense_Mutation_p.K725T	p.K766T	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			11	2571	+			766					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.2297A>C	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	A	9.997	1.232400	0.22626	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.69435	-0.26;-0.26;-0.4;-0.26;-0.33	5.08	1.31	0.21738	.	0.281276	0.38663	N	0.001619	T	0.54367	0.1854	L	0.54323	1.7	0.09310	N	1	P;P	0.40834	0.73;0.611	B;B	0.38056	0.264;0.135	T	0.51576	-0.8688	10	0.72032	D	0.01	-5.2981	4.7472	0.13043	0.6201:0.1513:0.2286:0.0	.	734;766	O00444-2;O00444	.;PLK4_HUMAN	T	766;688;734;705;725	ENSP00000270861:K766T;ENSP00000421774:K688T;ENSP00000427554:K734T;ENSP00000423412:K705T;ENSP00000423582:K725T	ENSP00000270861:K766T	K	+	2	0	PLK4	129033998	1.000000	0.71417	0.033000	0.17914	0.041000	0.13682	3.923000	0.56469	0.088000	0.17205	0.533000	0.62120	AAA		0.318	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			14	41	0	0	0	1	0	14	41				
RPS6KA2	6196	broad.mit.edu	37	6	166902356	166902356	+	Missense_Mutation	SNP	C	C	T	rs200011293		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:166902356C>T	ENST00000265678.4	-	10	1095	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R202Q|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.R316Q|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R299Q|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.R137Q|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R202Q	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	291	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAAGAGAGCTCGCAGCAAACT	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		16151	0.0		0.001	False		,,,				2504	0.0					ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(946-948)cGa>cAa		ribosomal protein S6 kinase, 90kDa, polypeptide 2							55.0	53.0	54.0					6																	166902356		2203	4300	6503	SO:0001583	missense	6196				axon guidance|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|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166902356C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.872G>A	6.37:g.166902356C>T	ENSP00000265678:p.Arg291Gln					RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R299Q|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R202Q|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R202Q|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R291Q|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.R137Q	p.R316Q			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	12	1287	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	291			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.947G>A	CCDS5294.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.92	3.725899	0.69074	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000366863	T;T;T;T;T;T	0.65364	0.63;0.63;0.63;0.63;0.63;-0.15	4.39	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	N	0.10618	0.005	0.80722	D	1	P;P;P	0.52842	0.956;0.721;0.866	B;B;B	0.41510	0.293;0.124;0.359	T	0.19418	-1.0306	10	0.31617	T	0.26	.	16.3089	0.82862	0.0:1.0:0.0:0.0	.	316;299;291	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	Q	291;316;299;202;202;137	ENSP00000265678:R291Q;ENSP00000422435:R316Q;ENSP00000427015:R299Q;ENSP00000422484:R202Q;ENSP00000386050:R202Q;ENSP00000355828:R137Q	ENSP00000265678:R291Q	R	-	2	0	RPS6KA2	166822346	1.000000	0.71417	0.959000	0.39883	0.791000	0.44710	7.159000	0.77483	2.120000	0.65058	0.563000	0.77884	CGA		0.562	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		7	17	0	0	0	1	0	7	17				
CLYBL	171425	broad.mit.edu	37	13	100518526	100518526	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100518526C>A	ENST00000376360.1	+	6	694	c.667C>A	c.(667-669)Ctc>Atc	p.L223I	CLYBL_ENST00000376354.1_Missense_Mutation_p.L189I|CLYBL_ENST00000339105.4_Missense_Mutation_p.L223I|CLYBL_ENST00000444838.2_Missense_Mutation_p.L189I|CLYBL_ENST00000376355.3_Missense_Mutation_p.L189I			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	223						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTGGATATTCTCTACGCCCG	0.428																																						ENST00000376355.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(565-567)Ctc>Atc		citrate lyase beta like							98.0	102.0	101.0					13																	100518526		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100518526C>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.667C>A	13.37:g.100518526C>A	ENSP00000365538:p.Leu223Ile					CLYBL_ENST00000444838.2_Missense_Mutation_p.L189I|CLYBL_ENST00000339105.4_Missense_Mutation_p.L223I|CLYBL_ENST00000376360.1_Missense_Mutation_p.L223I|CLYBL_ENST00000376354.1_Missense_Mutation_p.L189I	p.L189I	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN			5	596	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		223					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.565C>A	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157895	0.57368	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.75	5.75	0.90469	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.058760	0.64402	D	0.000002	T	0.43722	0.1260	M	0.68317	2.08	0.80722	D	1	P;B	0.35944	0.529;0.124	P;B	0.44696	0.458;0.181	T	0.33317	-0.9873	10	0.42905	T	0.14	-11.9759	9.4274	0.38588	0.1443:0.782:0.0:0.0737	.	189;223	B4DU60;Q8N0X4	.;CLYBL_HUMAN	I	189;223;189;189;223	ENSP00000365533:L189I;ENSP00000365538:L223I;ENSP00000404768:L189I;ENSP00000365532:L189I;ENSP00000342991:L223I	ENSP00000342991:L223I	L	+	1	0	CLYBL	99316527	0.996000	0.38824	0.976000	0.42696	0.936000	0.57629	2.991000	0.49409	2.866000	0.98385	0.650000	0.86243	CTC		0.428	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			38	64	1	0	1.02591e-13	1	1.31916e-13	38	64				
ADAL	161823	broad.mit.edu	37	15	43628012	43628012	+	Missense_Mutation	SNP	G	G	T	rs201697344		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43628012G>T	ENST00000562188.1	+	2	198	c.182G>T	c.(181-183)aGa>aTa	p.R61I	ADAL_ENST00000428046.3_Missense_Mutation_p.R61I|ADAL_ENST00000422466.2_Missense_Mutation_p.R61I|ADAL_ENST00000389651.4_Missense_Mutation_p.R61I			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	61					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GGAAAGAAAAGAACTTTGGAA	0.363																																						ENST00000422466.2																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7						c.(181-183)aGa>aTa		adenosine deaminase-like							116.0	116.0	116.0					15																	43628012		2201	4299	6500	SO:0001583	missense	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43628012G>T		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.182G>T	15.37:g.43628012G>T	ENSP00000456242:p.Arg61Ile					ADAL_ENST00000428046.3_Missense_Mutation_p.R61I|ADAL_ENST00000562188.1_Missense_Mutation_p.R61I|ADAL_ENST00000389651.4_Missense_Mutation_p.R61I	p.R61I			Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	5	756	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	61					A6NHZ3|B4DQM8	Missense_Mutation	SNP	ENST00000562188.1	37	c.182G>T		.	.	.	.	.	.	.	.	.	.	G	28.1	4.886977	0.91814	.	.	ENSG00000168803	ENST00000422466;ENST00000428046;ENST00000389651	D;D;D	0.83163	-1.69;-1.69;-1.69	5.5	5.5	0.81552	.	0.043052	0.85682	D	0.000000	D	0.89501	0.6733	M	0.66297	2.02	0.80722	D	1	P;D	0.69078	0.774;0.997	P;D	0.67725	0.593;0.953	D	0.88403	0.3016	10	0.44086	T	0.13	-27.2315	16.94	0.86215	0.0:0.0:1.0:0.0	.	61;61	B4DQM8;Q6DHV7-2	.;.	I	61	ENSP00000398744:R61I;ENSP00000413074:R61I;ENSP00000374302:R61I	ENSP00000374302:R61I	R	+	2	0	ADAL	41415304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.473000	0.81007	2.861000	0.98227	0.655000	0.94253	AGA		0.363	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		32	60	1	0	6.53348e-20	1	8.92126e-20	32	60				
PKHD1L1	93035	broad.mit.edu	37	8	110420308	110420308	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110420308T>C	ENST00000378402.5	+	18	1948	c.1844T>C	c.(1843-1845)gTt>gCt	p.V615A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	615					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATGAAGTAGTTGAAGGGAAT	0.343										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1843-1845)gTt>gCt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							92.0	89.0	90.0					8																	110420308		1851	4091	5942	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110420308T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1844T>C	8.37:g.110420308T>C	ENSP00000367655:p.Val615Ala	HNSCC(38;0.096)					p.V615A	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		18	1948	+			615					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1844T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	8.918	0.960352	0.18507	.	.	ENSG00000205038	ENST00000378402	D	0.85171	-1.95	5.58	4.44	0.53790	.	0.589948	0.17174	N	0.184180	T	0.64125	0.2570	N	0.03608	-0.345	0.20403	N	0.999907	B	0.06786	0.001	B	0.01281	0.0	T	0.50021	-0.8876	10	0.19590	T	0.45	.	6.2597	0.20893	0.0:0.176:0.0:0.824	.	615	Q86WI1	PKHL1_HUMAN	A	615	ENSP00000367655:V615A	ENSP00000367655:V615A	V	+	2	0	PKHD1L1	110489484	0.748000	0.28294	0.953000	0.39169	0.442000	0.32017	1.193000	0.32162	2.131000	0.65755	0.460000	0.39030	GTT		0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		13	27	0	0	0	1	0	13	27				
UNC80	285175	broad.mit.edu	37	2	210642253	210642253	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210642253T>G	ENST00000439458.1	+	4	650	c.570T>G	c.(568-570)ttT>ttG	p.F190L	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.6_Missense_Mutation_p.F190L	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	190					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TCTTCGTGTTTCTGTTTGCTC	0.488																																						ENST00000439458.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.(568-570)ttT>ttG		unc-80 homolog (C. elegans)							103.0	107.0	106.0					2																	210642253		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210642253T>G	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.570T>G	2.37:g.210642253T>G	ENSP00000391088:p.Phe190Leu					UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.F190L	p.F190L	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			4	650	+			190					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.570T>G	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302752	0.81136	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.37584	1.19;1.19	5.92	2.26	0.28386	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.47716	1.5	0.80722	D	1	D;P	0.56035	0.974;0.813	D;B	0.70487	0.969;0.444	T	0.36939	-0.9727	10	0.72032	D	0.01	.	6.9333	0.24453	0.0:0.454:0.0:0.546	.	190;190	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	L	190	ENSP00000391088:F190L;ENSP00000272845:F190L	ENSP00000272845:F190L	F	+	3	2	UNC80	210350498	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.165000	0.31822	0.496000	0.27904	-0.256000	0.11100	TTT		0.488	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		43	71	0	0	0	1	0	43	71				
KIAA1217	56243	broad.mit.edu	37	10	24820774	24820774	+	Missense_Mutation	SNP	C	C	T	rs534553518		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:24820774C>T	ENST00000376454.3	+	15	3128	c.3098C>T	c.(3097-3099)tCg>tTg	p.S1033L	KIAA1217_ENST00000376452.3_Missense_Mutation_p.S997L|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S716L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S953L|KIAA1217_ENST00000376451.2_Missense_Mutation_p.S716L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S998L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S716L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S716L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1033					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTCCAAATTCGGAACAGGAC	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18533	0.0		0.0	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2146-2148)tCg>tTg		KIAA1217							33.0	35.0	34.0					10																	24820774		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24820774C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3098C>T	10.37:g.24820774C>T	ENSP00000365637:p.Ser1033Leu					KIAA1217_ENST00000307544.6_Missense_Mutation_p.S716L|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S1033L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S953L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S716L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S716L|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S997L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S998L	p.S716L			Q5T5P2	SKT_HUMAN			10	2407	+			1033					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2147C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889375	0.72524	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.37	5.37	0.77165	.	0.352749	0.29002	N	0.013452	T	0.65512	0.2698	L	0.58101	1.795	0.41608	D	0.988891	P;B;P;P;P;P;D;P	0.76494	0.68;0.008;0.68;0.934;0.823;0.823;0.999;0.83	B;B;B;B;B;B;D;B	0.79784	0.08;0.002;0.116;0.157;0.157;0.157;0.993;0.131	T	0.58429	-0.7638	10	0.12103	T	0.63	.	14.8517	0.70300	0.0:0.8573:0.1427:0.0	.	998;997;716;716;716;716;1033;1033	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	L	953;998;716;1033;997;716;716;716;716;716	ENSP00000365645:S953L;ENSP00000392625:S998L;ENSP00000365637:S1033L;ENSP00000365635:S997L;ENSP00000302343:S716L;ENSP00000379722:S716L;ENSP00000365634:S716L;ENSP00000379723:S716L	ENSP00000302343:S716L	S	+	2	0	KIAA1217	24860780	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.597000	0.61062	2.692000	0.91855	0.655000	0.94253	TCG		0.493	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		14	19	0	0	0	1	0	14	19				
PLXNA3	55558	broad.mit.edu	37	X	153692557	153692557	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153692557G>A	ENST00000369682.3	+	8	1904	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	577					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.E577K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CTGCGCCTTCGAGGCGGCGGC	0.697																																						ENST00000369682.3																			1	Substitution - Missense(1)	p.E577K(1)	endometrium(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(1729-1731)Gag>Aag		plexin A3							28.0	25.0	26.0					X																	153692557		2198	4292	6490	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153692557G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1729G>A	X.37:g.153692557G>A	ENSP00000358696:p.Glu577Lys						p.E577K	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			8	1904	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		577					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.1729G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590293	0.46214	.	.	ENSG00000130827	ENST00000369682	T	0.00976	5.48	5.37	5.37	0.77165	.	0.148255	0.21946	U	0.066819	T	0.01765	0.0056	M	0.70595	2.14	0.49798	D	0.99982	P	0.36354	0.549	B	0.29440	0.102	T	0.63129	-0.6706	10	0.38643	T	0.18	.	16.8103	0.85717	0.0:0.0:1.0:0.0	.	577	P51805	PLXA3_HUMAN	K	577	ENSP00000358696:E577K	ENSP00000358696:E577K	E	+	1	0	PLXNA3	153345751	1.000000	0.71417	0.412000	0.26496	0.019000	0.09904	6.846000	0.75399	2.230000	0.72887	0.597000	0.82753	GAG		0.697	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		14	22	0	0	0	1	0	14	22				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"""		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	37	0	0	0	1	0	23	37				
KRT6C	286887	broad.mit.edu	37	12	52865252	52865252	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52865252C>A	ENST00000252250.6	-	4	912	c.865G>T	c.(865-867)Gac>Tac	p.D289Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	289	Coil 1B.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTGAGAGTGTCTGCCTTGGCT	0.493																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(865-867)Gac>Tac		keratin 6C							159.0	142.0	148.0					12																	52865252		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865252C>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.865G>T	12.37:g.52865252C>A	ENSP00000252250:p.Asp289Tyr						p.D289Y	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	4	912	-			289			Coil 1B.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.865G>T	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691572	0.68271	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.89810	-2.57	3.33	3.33	0.38152	Filament (1);	0.099704	0.43747	D	0.000535	D	0.95959	0.8684	H	0.97051	3.93	0.44432	D	0.997352	D	0.63046	0.992	D	0.66351	0.943	D	0.97598	1.0121	10	0.87932	D	0	.	15.1818	0.72965	0.0:1.0:0.0:0.0	.	289	P48668	K2C6C_HUMAN	Y	289;274	ENSP00000252250:D289Y	ENSP00000252250:D289Y	D	-	1	0	KRT6C	51151519	0.981000	0.34729	0.012000	0.15200	0.521000	0.34408	2.997000	0.49457	1.848000	0.53677	0.448000	0.29417	GAC		0.493	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		11	38	1	0	1.08611e-07	1	1.25818e-07	11	38				
UBXN11	91544	broad.mit.edu	37	1	26612003	26612003	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:26612003G>A	ENST00000374222.1	-	11	1268	c.804C>T	c.(802-804)ttC>ttT	p.F268F	UBXN11_ENST00000374217.2_Silent_p.F235F|UBXN11_ENST00000314675.7_Silent_p.F148F|UBXN11_ENST00000357089.4_Silent_p.F235F|UBXN11_ENST00000374221.3_Silent_p.F268F|UBXN11_ENST00000436301.2_Silent_p.F193F|UBXN11_ENST00000535108.1_Silent_p.F110F|UBXN11_ENST00000374223.1_Silent_p.F25F			Q5T124	UBX11_HUMAN	UBX domain protein 11	268	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTGAGGGAAAGAAGCCATCCA	0.587											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(442-444)ttC>ttT		UBX domain protein 11							40.0	49.0	46.0					1																	26612003		2153	4272	6425	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26612003G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.804C>T	1.37:g.26612003G>A			OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	788	UBXN11_ENST00000374217.2_Silent_p.F235F|UBXN11_ENST00000374221.3_Silent_p.F268F|UBXN11_ENST00000374222.1_Silent_p.F268F|UBXN11_ENST00000535108.1_Silent_p.F110F|UBXN11_ENST00000436301.2_Silent_p.F193F|UBXN11_ENST00000374223.1_Silent_p.F25F|UBXN11_ENST00000357089.4_Silent_p.F235F	p.F148F	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			6	523	-			268					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.444C>T	CCDS41288.1																																																																																				0.587	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		11	18	0	0	0	1	0	11	18				
ROBO2	6092	broad.mit.edu	37	3	77645854	77645854	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:77645854A>G	ENST00000461745.1	+	19	3707	c.2807A>G	c.(2806-2808)aAt>aGt	p.N936S	ROBO2_ENST00000487694.3_Missense_Mutation_p.N952S|ROBO2_ENST00000332191.8_Missense_Mutation_p.N936S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	936					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTGCCAGTAAATAATAGCAAC	0.418																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2806-2808)aAt>aGt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							127.0	125.0	125.0					3																	77645854		1836	4095	5931	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77645854A>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2807A>G	3.37:g.77645854A>G	ENSP00000417164:p.Asn936Ser					ROBO2_ENST00000332191.8_Missense_Mutation_p.N936S|ROBO2_ENST00000487694.3_Missense_Mutation_p.N952S	p.N936S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	19	3707	+			936					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2807A>G	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.91|12.91	2.078606|2.078606	0.36662|0.36662	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.|T;T;T	.|0.65916	.|-0.18;-0.14;-0.09	6.16|6.16	4.97|4.97	0.65823|0.65823	.|.	.|0.000000	.|0.49916	.|D	.|0.000127	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.55481|0.55481	1.735|1.735	.|.	.|.	.|.	.|B;P;B	.|0.36249	.|0.36;0.545;0.102	.|B;B;B	.|0.31812	.|0.062;0.136;0.045	T|T	0.62497|0.62497	-0.6842|-0.6842	4|9	.|0.20046	.|T	.|0.44	.|.	13.7549|13.7549	0.62930|0.62930	0.8724:0.1276:0.0:0.0|0.8724:0.1276:0.0:0.0	.|.	.|952;936;936	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	V|S	93|952;952;956;936;936	.|ENSP00000417335:N952S;ENSP00000417164:N936S;ENSP00000327536:N936S	.|ENSP00000327536:N936S	I|N	+|+	1|2	0|0	ROBO2|ROBO2	77728544|77728544	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.715000|0.715000	0.41141|0.41141	6.887000|6.887000	0.75616|0.75616	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	ATA|AAT		0.418	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		38	59	0	0	0	1	0	38	59				
ZNF354B	117608	broad.mit.edu	37	5	178310254	178310254	+	Missense_Mutation	SNP	G	G	T	rs147300334	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310254G>T	ENST00000322434.3	+	5	1027	c.801G>T	c.(799-801)gaG>gaT	p.E267D	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATACAGGAGAGAAACCCTATA	0.353																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(799-801)gaG>gaT		zinc finger protein 354B							59.0	66.0	64.0					5																	178310254		2202	4300	6502	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310254G>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.801G>T	5.37:g.178310254G>T	ENSP00000327143:p.Glu267Asp						p.E267D	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1027	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	267					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.801G>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859104	0.51376	.	.	ENSG00000178338	ENST00000322434	T	0.26810	1.71	3.54	1.71	0.24356	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23370	0.0565	L	0.56280	1.765	0.29011	N	0.88685	B	0.34147	0.438	B	0.35470	0.203	T	0.20240	-1.0281	9	0.72032	D	0.01	-34.4246	5.6566	0.17647	0.1106:0.0:0.6953:0.194	.	267	Q96LW1	Z354B_HUMAN	D	267	ENSP00000327143:E267D	ENSP00000327143:E267D	E	+	3	2	ZNF354B	178242860	1.000000	0.71417	0.873000	0.34254	0.905000	0.53344	1.251000	0.32862	0.196000	0.20367	0.561000	0.74099	GAG		0.353	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		29	46	1	0	1.38267e-23	1	1.93402e-23	29	46				
TTN	7273	broad.mit.edu	37	2	179565931	179565931	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179565931C>T	ENST00000591111.1	-	109	29872		c.e109-1		TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGGGATTTCTGAAGAAAAT	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e111-1		titin							151.0	151.0	151.0					2																	179565931		1816	4084	5900	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179565931C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29648-1G>A	2.37:g.179565931C>T						TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Splice_Site		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		111	30823	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	18.79	3.699841	0.68501	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.584	0.76468	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179274176	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.795000	0.55499	2.741000	0.93983	0.655000	0.94253	.		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	30	61	0	0	0	1	0	30	61				
FAM71B	153745	broad.mit.edu	37	5	156593022	156593022	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156593022T>G	ENST00000302938.4	-	1	253	c.158A>C	c.(157-159)cAg>cCg	p.Q53P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	53						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTGTTTATCTGAATAAAATT	0.478																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(157-159)cAg>cCg		family with sequence similarity 71, member B							137.0	133.0	134.0					5																	156593022		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156593022T>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.158A>C	5.37:g.156593022T>G	ENSP00000305596:p.Gln53Pro						p.Q53P	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	253	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	53					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.158A>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055972	0.36277	.	.	ENSG00000170613	ENST00000302938	T	0.32753	1.44	4.66	4.66	0.58398	.	0.118445	0.38005	N	0.001846	T	0.60405	0.2266	M	0.90814	3.15	0.40144	D	0.976868	D	0.89917	1.0	D	0.91635	0.999	T	0.69355	-0.5167	10	0.87932	D	0	-23.3706	11.0625	0.47955	0.0:0.0:0.0:1.0	.	53	Q8TC56	FA71B_HUMAN	P	53	ENSP00000305596:Q53P	ENSP00000305596:Q53P	Q	-	2	0	FAM71B	156525600	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	4.096000	0.57734	2.033000	0.60031	0.455000	0.32223	CAG		0.478	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		7	78	0	0	0	1	0	7	78				
KIAA1033	23325	broad.mit.edu	37	12	105527584	105527584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105527584G>A	ENST00000332180.5	+	14	1323	c.1236G>A	c.(1234-1236)tgG>tgA	p.W412*		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TGAGCTCATGGATGATGAAAA	0.333																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1234-1236)tgG>tgA		KIAA1033							187.0	180.0	182.0					12																	105527584		1857	4097	5954	SO:0001587	stop_gained	23325				endosome transport	WASH complex		g.chr12:105527584G>A	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1236G>A	12.37:g.105527584G>A	ENSP00000328062:p.Trp412*						p.W412*	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			14	1323	+			412						Nonsense_Mutation	SNP	ENST00000332180.5	37	c.1236G>A	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	38	7.198910	0.98129	.	.	ENSG00000136051	ENST00000332180	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.328	0.98708	0.0:0.0:1.0:0.0	.	.	.	.	X	412	.	ENSP00000328062:W412X	W	+	3	0	KIAA1033	104051714	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.841000	0.99482	2.802000	0.96397	0.561000	0.74099	TGG		0.333	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		20	48	0	0	0	1	0	20	48				
CUBN	8029	broad.mit.edu	37	10	16948356	16948356	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:16948356G>A	ENST00000377833.4	-	50	7823	c.7758C>T	c.(7756-7758)ggC>ggT	p.G2586G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2586	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCGTCATAGCCAGGAGAAG	0.418																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7756-7758)ggC>ggT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						96.0	96.0	96.0					10																	16948356		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16948356G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7758C>T	10.37:g.16948356G>A							p.G2586G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			50	7823	-			2586			CUB 19.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.7758C>T	CCDS7113.1																																																																																				0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		22	45	0	0	0	1	0	22	45				
ALG6	29929	broad.mit.edu	37	1	63894714	63894714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63894714G>T	ENST00000371108.4	+	14	1548	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*	ALG6_ENST00000263440.4_Nonsense_Mutation_p.E417*|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	415					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTCTGAAGAAGAACTGCAGTT	0.313																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1243-1245)Gaa>Taa		ALG6, alpha-1,3-glucosyltransferase							52.0	50.0	51.0					1																	63894714		2202	4298	6500	SO:0001587	stop_gained	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63894714G>T	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1243G>T	1.37:g.63894714G>T	ENSP00000360149:p.Glu415*					ALG6_ENST00000263440.4_Nonsense_Mutation_p.E417*|ALG6_ENST00000494765.1_3'UTR	p.E415*	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			14	1548	+			415					B3KMU2|Q5SXR9|Q9H3I0	Nonsense_Mutation	SNP	ENST00000371108.4	37	c.1243G>T	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	G	37	6.013303	0.97200	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	.	.	.	4.92	2.84	0.33178	.	0.967687	0.08570	N	0.926201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	2.1851	9.5802	0.39484	0.0:0.2997:0.5553:0.145	.	.	.	.	X	415;417;162	.	ENSP00000263440:E417X	E	+	1	0	ALG6	63667302	1.000000	0.71417	0.960000	0.40013	0.905000	0.53344	1.683000	0.37638	1.177000	0.42855	0.491000	0.48974	GAA		0.313	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		8	8	1	0	1.06961e-07	1	1.24214e-07	8	8				
DPP6	1804	broad.mit.edu	37	7	154593165	154593165	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:154593165C>T	ENST00000377770.3	+	13	1541	c.1400C>T	c.(1399-1401)tCg>tTg	p.S467L	DPP6_ENST00000332007.3_Missense_Mutation_p.S405L|DPP6_ENST00000404039.1_Missense_Mutation_p.S403L|DPP6_ENST00000427557.1_Missense_Mutation_p.S360L			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	467					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACGGTGTCCTCGTCCCAGGTA	0.537																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1207-1209)tCg>tTg		dipeptidyl-peptidase 6							43.0	41.0	42.0					7																	154593165		1941	4131	6072	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154593165C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1400C>T	7.37:g.154593165C>T	ENSP00000367001:p.Ser467Leu					DPP6_ENST00000427557.1_Missense_Mutation_p.S360L|DPP6_ENST00000377770.3_Missense_Mutation_p.S467L|DPP6_ENST00000332007.3_Missense_Mutation_p.S405L	p.S403L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		13	1795	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	467						Missense_Mutation	SNP	ENST00000377770.3	37	c.1208C>T		.	.	.	.	.	.	.	.	.	.	c	6.451	0.451415	0.12223	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.12	4.25	0.50352	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.392462	0.28171	N	0.016334	T	0.15219	0.0367	N	0.20357	0.565	0.09310	N	1	B;P;P;P	0.51240	0.074;0.881;0.943;0.903	B;B;B;B	0.32533	0.06;0.057;0.147;0.095	T	0.10800	-1.0614	10	0.18710	T	0.47	-7.4405	13.5136	0.61528	0.0:0.9238:0.0:0.0762	.	360;405;467;403	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	L	403;467;405;360	ENSP00000385578:S403L;ENSP00000367001:S467L;ENSP00000328226:S405L;ENSP00000397303:S360L	ENSP00000328226:S405L	S	+	2	0	DPP6	154224098	0.009000	0.17119	0.011000	0.14972	0.009000	0.06853	1.148000	0.31614	1.158000	0.42547	-0.119000	0.15052	TCG		0.537	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		5	7	0	0	0	1	0	5	7				
BRWD3	254065	broad.mit.edu	37	X	79980449	79980449	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79980449G>A	ENST00000373275.4	-	15	1720	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	502					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAGTAATTCCGAATTTTGGTC	0.368																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1504-1506)Cgg>Tgg		bromodomain and WD repeat domain containing 3							98.0	86.0	90.0					X																	79980449		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79980449G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1504C>T	X.37:g.79980449G>A	ENSP00000362372:p.Arg502Trp						p.R502W	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			15	1720	-			502					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1504C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881620	0.72294	.	.	ENSG00000165288	ENST00000373275	T	0.42131	0.98	5.25	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	L	0.55213	1.73	0.50813	D	0.999891	D	0.76494	0.999	D	0.63703	0.917	T	0.54807	-0.8238	9	.	.	.	-8.6066	14.1757	0.65539	0.0:0.0:0.8495:0.1505	.	502	Q6RI45	BRWD3_HUMAN	W	502	ENSP00000362372:R502W	.	R	-	1	2	BRWD3	79867105	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.109000	0.71528	1.138000	0.42230	0.600000	0.82982	CGG		0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		13	29	0	0	0	1	0	13	29				
CAV2	858	broad.mit.edu	37	7	116140470	116140470	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:116140470C>A	ENST00000222693.4	+	2	699	c.307C>A	c.(307-309)Ctc>Atc	p.L103I	CAV2_ENST00000393480.2_Missense_Mutation_p.L103I|AC002066.1_ENST00000446355.2_RNA|CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000343213.2_Intron	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	103					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)	p.L103F(1)		large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			TGCGGGAATTCTCTTTGCCAC	0.552																																						ENST00000222693.4																			1	Substitution - Missense(1)	p.L103F(1)	large_intestine(1)	large_intestine(1)|lung(1)|skin(1)	3						c.(307-309)Ctc>Atc		caveolin 2							159.0	137.0	144.0					7																	116140470		2203	4300	6503	SO:0001583	missense	858				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity	g.chr7:116140470C>A	AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.307C>A	7.37:g.116140470C>A	ENSP00000222693:p.Leu103Ile					CAV2_ENST00000393480.2_Missense_Mutation_p.L103I|CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR	p.L103I	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	699	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		103					A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	37	c.307C>A	CCDS5766.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997301	0.54147	.	.	ENSG00000105971	ENST00000222693;ENST00000393480	D;D	0.93019	-3.15;-3.15	5.02	3.04	0.35103	.	0.389459	0.28688	N	0.014475	D	0.90031	0.6887	L	0.51422	1.61	0.42626	D	0.993364	B	0.16166	0.016	B	0.22880	0.042	D	0.86770	0.1972	10	0.40728	T	0.16	-14.1546	11.4258	0.50009	0.1183:0.6633:0.2185:0.0	.	103	P51636	CAV2_HUMAN	I	103	ENSP00000222693:L103I;ENSP00000377120:L103I	ENSP00000222693:L103I	L	+	1	0	CAV2	115927706	0.284000	0.24287	0.919000	0.36401	0.969000	0.65631	0.201000	0.17276	1.208000	0.43306	0.563000	0.77884	CTC		0.552	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		26	62	1	0	7.76418e-22	1	1.07612e-21	26	62				
CACNG3	10368	broad.mit.edu	37	16	24358084	24358084	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24358084G>A	ENST00000005284.3	+	2	1443	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	81					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAAGAAAATCGATCACTTCCC	0.582																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(241-243)Gat>Aat		calcium channel, voltage-dependent, gamma subunit 3							85.0	79.0	81.0					16																	24358084		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24358084G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.241G>A	16.37:g.24358084G>A	ENSP00000005284:p.Asp81Asn						p.D81N	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	2	1443	+			81						Missense_Mutation	SNP	ENST00000005284.3	37	c.241G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637459	0.47049	.	.	ENSG00000006116	ENST00000005284	D	0.91686	-2.89	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	N	0.03983	-0.305	0.58432	D	0.999996	D	0.89917	1.0	D	0.77557	0.99	D	0.84022	0.0354	10	0.07644	T	0.81	-13.5267	13.904	0.63823	0.074:0.0:0.926:0.0	.	81	O60359	CCG3_HUMAN	N	81	ENSP00000005284:D81N	ENSP00000005284:D81N	D	+	1	0	CACNG3	24265585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.569000	0.82380	2.808000	0.96608	0.655000	0.94253	GAT		0.582	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		29	39	0	0	0	1	0	29	39				
BCLAF1	9774	broad.mit.edu	37	6	136597112	136597112	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597112C>A	ENST00000531224.1	-	5	1803	c.1551G>T	c.(1549-1551)aaG>aaT	p.K517N	BCLAF1_ENST00000527759.1_Missense_Mutation_p.K515N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K515N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K517N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K344N|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K515N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	517					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CATCCAGATTCTTGTGTAGAG	0.413																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1549-1551)aaG>aaT		BCL2-associated transcription factor 1							208.0	216.0	214.0					6																	136597112		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597112C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1551G>T	6.37:g.136597112C>A	ENSP00000435210:p.Lys517Asn					BCLAF1_ENST00000353331.4_Missense_Mutation_p.K515N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K344N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K515N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K517N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K515N	p.K517N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1803	-	Colorectal(23;0.24)		517					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1551G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375345	0.24857	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	T	0.23846	0.0577	L	0.42245	1.32	0.80722	D	1	D;D;D;P	0.60575	0.988;0.985;0.988;0.879	D;P;D;B	0.71656	0.974;0.848;0.974;0.327	T	0.00455	-1.1729	10	0.87932	D	0	-8.6898	13.0226	0.58796	0.0:0.926:0.0:0.074	.	515;515;517;344	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	N	517;515;517;344;515;515;517	ENSP00000435210:K517N;ENSP00000229446:K515N;ENSP00000435441:K517N;ENSP00000436501:K344N;ENSP00000434826:K515N;ENSP00000376159:K515N;ENSP00000431734:K517N	ENSP00000229446:K515N	K	-	3	2	BCLAF1	136638805	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.044000	0.57361	2.743000	0.94032	0.454000	0.30748	AAG		0.413	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		12	153	1	0	1.3612e-06	1	1.53357e-06	12	153				
GMPS	8833	broad.mit.edu	37	3	155611439	155611439	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155611439A>C	ENST00000496455.2	+	2	495	c.160A>C	c.(160-162)Att>Ctt	p.I54L	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	54	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GCAGTCTGAAATTTTCCCCTT	0.443			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(160-162)Att>Ctt		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						80.0	77.0	78.0					3																	155611439		1911	4126	6037	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155611439A>C	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.160A>C	3.37:g.155611439A>C	ENSP00000419851:p.Ile54Leu					GMPS_ENST00000295920.7_Intron	p.I54L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		2	495	+			54			Glutamine amidotransferase type-1.		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.160A>C	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.776266	0.49786	.	.	ENSG00000163655	ENST00000496455;ENST00000541628	D	0.90069	-2.61	5.41	2.94	0.34122	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.123853	0.53938	N	0.000059	T	0.79499	0.4456	L	0.31294	0.92	0.80722	D	1	B	0.16166	0.016	B	0.28139	0.086	T	0.65849	-0.6068	10	0.06757	T	0.87	-7.9692	8.4549	0.32893	0.8001:0.1303:0.0696:0.0	.	54	P49915	GUAA_HUMAN	L	54	ENSP00000419851:I54L	ENSP00000419851:I54L	I	+	1	0	GMPS	157094133	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.084000	0.64462	0.852000	0.35287	0.450000	0.29827	ATT		0.443	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			13	20	0	0	0	1	0	13	20				
GAB1	2549	broad.mit.edu	37	4	144381598	144381598	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:144381598G>T	ENST00000262994.4	+	8	2063	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	GAB1_ENST00000505913.1_Missense_Mutation_p.E484D|GAB1_ENST00000262995.4_Missense_Mutation_p.E617D	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	587					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACAGTGAAGAGAATTATGTTC	0.438																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1849-1851)gaG>gaT		GRB2-associated binding protein 1							161.0	157.0	158.0					4																	144381598		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144381598G>T	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1761G>T	4.37:g.144381598G>T	ENSP00000262994:p.Glu587Asp					GAB1_ENST00000505913.1_Missense_Mutation_p.E484D|GAB1_ENST00000262994.4_Missense_Mutation_p.E587D	p.E617D	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			9	2278	+	all_hematologic(180;0.158)		587					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.1851G>T	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134277	0.77662	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.14893	2.47;2.47;2.47	5.57	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	L	0.58302	1.8	0.49213	D	0.999766	D;D	0.76494	0.997;0.999	D;D	0.79784	0.978;0.993	T	0.01648	-1.1304	10	0.39692	T	0.17	-9.3638	8.5373	0.33371	0.2914:0.0:0.7086:0.0	.	587;617	Q13480;Q13480-2	GAB1_HUMAN;.	D	617;587;484	ENSP00000262995:E617D;ENSP00000262994:E587D;ENSP00000424554:E484D	ENSP00000262994:E587D	E	+	3	2	GAB1	144601048	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.261000	0.51530	0.712000	0.32039	0.591000	0.81541	GAG		0.438	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		25	136	1	0	7.07758e-08	1	8.2413e-08	25	136				
NONO	4841	broad.mit.edu	37	X	70514336	70514336	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70514336A>C	ENST00000276079.8	+	5	813	c.608A>C	c.(607-609)aAa>aCa	p.K203T	NONO_ENST00000373841.1_Missense_Mutation_p.K203T|NONO_ENST00000535149.1_Missense_Mutation_p.K114T|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.K203T	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	203	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GCTGCTCGGAAAGCTCTGGAC	0.507			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(340-342)aAa>aCa		non-POU domain containing, octamer-binding							53.0	45.0	48.0					X																	70514336		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514336A>C	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.608A>C	X.37:g.70514336A>C	ENSP00000276079:p.Lys203Thr					NONO_ENST00000373841.1_Missense_Mutation_p.K203T|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.K203T|NONO_ENST00000373856.3_Missense_Mutation_p.K203T	p.K114T	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			3	984	+	Renal(35;0.156)		203			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.341A>C	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	21.7|21.7	4.191508|4.191508	0.78902|0.78902	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000418921|ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000454976	T|T;T;T;T;T	0.19532|0.20738	2.14|2.05;2.05;2.05;2.05;2.05	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.35799|0.35799	0.0944|0.0944	L|L	0.37750|0.37750	1.13|1.13	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.76575	.|0.988	T|T	0.11060|0.11060	-1.0603|-1.0603	8|10	0.44086|0.62326	T|D	0.13|0.03	-13.9338|-13.9338	13.7303|13.7303	0.62783|0.62783	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|203	.|Q15233	.|NONO_HUMAN	Q|T	65|114;203;203;203;203	ENSP00000409773:K65Q|ENSP00000441364:K114T;ENSP00000276079:K203T;ENSP00000362963:K203T;ENSP00000362947:K203T;ENSP00000406673:K203T	ENSP00000409773:K65Q|ENSP00000276079:K203T	K|K	+|+	1|2	0|0	NONO|NONO	70431061|70431061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.944000|8.944000	0.92980|0.92980	1.816000|1.816000	0.52996|0.52996	0.430000|0.430000	0.28490|0.28490	AAG|AAA		0.507	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		7	31	0	0	0	1	0	7	31				
NEB	4703	broad.mit.edu	37	2	152554096	152554096	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152554096A>G	ENST00000172853.10	-	14	1366	c.1219T>C	c.(1219-1221)Ttc>Ctc	p.F407L	NEB_ENST00000427231.2_Missense_Mutation_p.F407L|NEB_ENST00000604864.1_Missense_Mutation_p.F407L|NEB_ENST00000603639.1_Missense_Mutation_p.F407L|NEB_ENST00000409198.1_Missense_Mutation_p.F407L|NEB_ENST00000397345.3_Missense_Mutation_p.F407L			P20929	NEBU_HUMAN	nebulin	407					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGAGCTTGAATTTGGGGGTC	0.328																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(1219-1221)Ttc>Ctc		nebulin							139.0	135.0	136.0					2																	152554096		1828	4090	5918	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152554096A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1219T>C	2.37:g.152554096A>G	ENSP00000172853:p.Phe407Leu					NEB_ENST00000603639.1_Missense_Mutation_p.F407L|NEB_ENST00000604864.1_Missense_Mutation_p.F407L|NEB_ENST00000409198.1_Missense_Mutation_p.F407L|NEB_ENST00000172853.10_Missense_Mutation_p.F407L|NEB_ENST00000427231.2_Missense_Mutation_p.F407L	p.F407L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	14	1421	-			407					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.1219T>C		.	.	.	.	.	.	.	.	.	.	A	19.41	3.821413	0.71028	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.05996	3.4;3.36;3.36;3.4	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.11750	0.0286	M	0.74881	2.28	0.80722	D	1	B	0.29571	0.249	B	0.32677	0.15	T	0.11060	-1.0603	10	0.14252	T	0.57	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	407	P20929	NEBU_HUMAN	L	407;407;407;407;133	ENSP00000386259:F407L;ENSP00000380505:F407L;ENSP00000416578:F407L;ENSP00000172853:F407L	ENSP00000172853:F407L	F	-	1	0	NEB	152262342	1.000000	0.71417	0.954000	0.39281	0.982000	0.71751	9.206000	0.95056	2.288000	0.76882	0.533000	0.62120	TTC		0.328	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		23	32	0	0	0	1	0	23	32				
LMNB1	4001	broad.mit.edu	37	5	126154643	126154643	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:126154643A>G	ENST00000261366.5	+	6	1330	c.969A>G	c.(967-969)gaA>gaG	p.E323E	LMNB1_ENST00000395354.1_Silent_p.E323E|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	323	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GGATTCAAGAATTAGAGGACT	0.398																																						ENST00000261366.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(967-969)gaA>gaG		lamin B1							104.0	107.0	105.0					5																	126154643		2203	4300	6503	SO:0001819	synonymous_variant	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126154643A>G	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.969A>G	5.37:g.126154643A>G						LMNB1_ENST00000395354.1_Silent_p.E323E|LMNB1_ENST00000460265.1_3'UTR	p.E323E	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	6	1330	+		all_cancers(142;0.103)|Prostate(80;0.081)	323			Coil 2.|Rod.		B2R6J6|Q3SYN7|Q96EI6	Silent	SNP	ENST00000261366.5	37	c.969A>G	CCDS4140.1																																																																																				0.398	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		43	61	0	0	0	1	0	43	61				
ITK	3702	broad.mit.edu	37	5	156635937	156635937	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156635937G>A	ENST00000422843.3	+	2	328	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	59	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R59Q(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GAGCTCTCCCGAATCAAATGT	0.458			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		1	Substitution - Missense(1)	p.R59Q(1)	large_intestine(1)	breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(175-177)cGa>cAa		IL2-inducible T-cell kinase							122.0	109.0	114.0					5																	156635937		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156635937G>A	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.176G>A	5.37:g.156635937G>A	ENSP00000398655:p.Arg59Gln					CTB-4E7.1_ENST00000519375.1_RNA	p.R59Q	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	328	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	59			PH.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.176G>A	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434269	0.83776	.	.	ENSG00000113263	ENST00000422843	T	0.74947	-0.89	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.187688	0.44483	D	0.000452	T	0.70710	0.3255	L	0.43152	1.355	0.28451	N	0.916353	D	0.57571	0.98	P	0.46940	0.532	T	0.70454	-0.4867	10	0.66056	D	0.02	.	11.9447	0.52922	0.0844:0.0:0.9156:0.0	.	59	Q08881	ITK_HUMAN	Q	59	ENSP00000398655:R59Q	ENSP00000398655:R59Q	R	+	2	0	ITK	156568515	1.000000	0.71417	0.993000	0.49108	0.870000	0.49936	4.997000	0.63921	2.458000	0.83093	0.561000	0.74099	CGA		0.458	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			7	18	0	0	0	1	0	7	18				
ZNF816	125893	broad.mit.edu	37	19	53454447	53454447	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53454447C>A	ENST00000357666.4	-	5	881	c.581G>T	c.(580-582)aGa>aTa	p.R194I	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R194I|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R194I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACAAGAAATTCTTTGGGATTC	0.373																																						ENST00000357666.4																			1	Substitution - Missense(1)	p.R194I(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(580-582)aGa>aTa		zinc finger protein 816							81.0	95.0	91.0					19																	53454447		2202	4300	6502	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454447C>A	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.581G>T	19.37:g.53454447C>A	ENSP00000350295:p.Arg194Ile					ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R194I|ZNF816_ENST00000434371.2_Intron	p.R194I	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	881	-			194					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.581G>T	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	7.988	0.752568	0.15778	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.06142	3.34;3.34	1.58	-1.63	0.08345	.	.	.	.	.	T	0.07143	0.0181	M	0.72624	2.21	0.09310	N	1	B	0.22276	0.067	B	0.15052	0.012	T	0.37549	-0.9701	9	0.66056	D	0.02	.	2.1508	0.03799	0.2991:0.4872:0.0:0.2137	.	194	Q0VGE8	ZN816_HUMAN	I	194	ENSP00000350295:R194I;ENSP00000403266:R194I	ENSP00000350295:R194I	R	-	2	0	ZNF816	58146259	0.000000	0.05858	0.003000	0.11579	0.026000	0.11368	-0.985000	0.03751	-0.560000	0.06102	0.185000	0.17295	AGA		0.373	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		37	76	1	0	1.57351e-24	1	2.20921e-24	37	76				
RANBP6	26953	broad.mit.edu	37	9	6015322	6015322	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6015322C>T	ENST00000259569.5	-	1	296	c.286G>A	c.(286-288)Gat>Aat	p.D96N	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	96					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTGACATCTCTCTGAACA	0.438																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(286-288)Gat>Aat		RAN binding protein 6							85.0	86.0	86.0					9																	6015322		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6015322C>T	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.286G>A	9.37:g.6015322C>T	ENSP00000259569:p.Asp96Asn					RANBP6_ENST00000485372.1_Intron	p.D96N	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	296	-		Acute lymphoblastic leukemia(23;0.158)	96					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.286G>A	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629353	0.28978	.	.	ENSG00000137040	ENST00000259569	T	0.68181	-0.31	4.39	4.39	0.52855	Armadillo-like helical (1);Armadillo-type fold (1);	0.106696	0.64402	D	0.000007	T	0.42108	0.1188	N	0.03608	-0.345	0.40495	D	0.980587	B	0.09022	0.002	B	0.01281	0.0	T	0.34004	-0.9846	10	0.17369	T	0.5	-11.1367	15.272	0.73708	0.0:1.0:0.0:0.0	.	96	O60518	RNBP6_HUMAN	N	96	ENSP00000259569:D96N	ENSP00000259569:D96N	D	-	1	0	RANBP6	6005322	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.736000	0.68597	2.733000	0.93635	0.561000	0.74099	GAT		0.438	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		27	54	0	0	0	1	0	27	54				
TRPM2	7226	broad.mit.edu	37	21	45819213	45819213	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45819213G>T	ENST00000397928.1	+	14	2542	c.2097G>T	c.(2095-2097)gaG>gaT	p.E699D	TRPM2_ENST00000300481.9_Missense_Mutation_p.E679D|TRPM2_ENST00000397932.2_Missense_Mutation_p.E699D|TRPM2_ENST00000300482.5_Missense_Mutation_p.E699D|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	699					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGACGAAGAGAGAGCCCAGA	0.627																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2095-2097)gaG>gaT		transient receptor potential cation channel, subfamily M, member 2							69.0	68.0	68.0					21																	45819213		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45819213G>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2097G>T	21.37:g.45819213G>T	ENSP00000381023:p.Glu699Asp					TRPM2_ENST00000397932.2_Missense_Mutation_p.E699D|TRPM2_ENST00000300482.5_Missense_Mutation_p.E699D|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.E679D	p.E699D	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			14	2542	+			699					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2097G>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	5.674	0.309016	0.10733	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.08	-3.23	0.05109	.	0.191527	0.44285	N	0.000470	T	0.64136	0.2571	L	0.41124	1.26	0.25624	N	0.986367	B;B;B	0.22746	0.074;0.009;0.036	B;B;B	0.17979	0.02;0.015;0.015	T	0.49021	-0.8982	10	0.24483	T	0.36	-18.7314	6.4779	0.22047	0.3135:0.3055:0.381:0.0	.	699;485;699	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	D	699;699;679;699	ENSP00000300482:E699D;ENSP00000381023:E699D;ENSP00000300481:E679D;ENSP00000381026:E699D	ENSP00000300481:E679D	E	+	3	2	TRPM2	44643641	0.985000	0.35326	0.004000	0.12327	0.044000	0.14063	0.545000	0.23268	-0.712000	0.04988	0.555000	0.69702	GAG		0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		28	75	1	0	8.58068e-18	1	1.15595e-17	28	75				
ODC1	4953	broad.mit.edu	37	2	10582167	10582167	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10582167A>C	ENST00000234111.4	-	9	1394	c.884T>G	c.(883-885)aTt>aGt	p.I295S	ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Missense_Mutation_p.I295S	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	295					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CTTTAATACAATTTTCTTGGC	0.398																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(883-885)aTt>aGt		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						117.0	110.0	112.0					2																	10582167		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582167A>C		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.884T>G	2.37:g.10582167A>C	ENSP00000234111:p.Ile295Ser					ODC1_ENST00000405333.1_Missense_Mutation_p.I295S	p.I295S	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	9	1394	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		295					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.884T>G	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	A	1.426	-0.571614	0.03882	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.40476	1.03;1.03	5.79	2.03	0.26663	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	1.029350	0.07636	N	0.929498	T	0.26666	0.0652	N	0.25201	0.72	0.28221	N	0.926522	B	0.02656	0.0	B	0.11329	0.006	T	0.31308	-0.9948	10	0.09843	T	0.71	.	7.8051	0.29198	0.6693:0.262:0.0686:0.0	.	295	P11926	DCOR_HUMAN	S	295;295;166	ENSP00000234111:I295S;ENSP00000385333:I295S	ENSP00000234111:I295S	I	-	2	0	ODC1	10499618	1.000000	0.71417	0.001000	0.08648	0.366000	0.29705	3.638000	0.54332	0.107000	0.17824	0.460000	0.39030	ATT		0.398	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			9	61	0	0	0	1	0	9	61				
DNAH17	8632	broad.mit.edu	37	17	76503679	76503679	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:76503679G>A	ENST00000585328.1	-	28	4560	c.4436C>T	c.(4435-4437)gCg>gTg	p.A1479V	DNAH17_ENST00000389840.5_Missense_Mutation_p.A1478V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1478	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GACGGAGTCCGCCGTGGACAG	0.602																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(4432-4434)gCg>gTg		dynein, axonemal, heavy chain 17							45.0	52.0	50.0					17																	76503679		2165	4283	6448	SO:0001583	missense	8632							g.chr17:76503679G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4436C>T	17.37:g.76503679G>A	ENSP00000465516:p.Ala1479Val					DNAH17_ENST00000585328.1_Missense_Mutation_p.A1479V	p.A1478V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		28	4557	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.4433C>T		.	.	.	.	.	.	.	.	.	.	G	9.846	1.192353	0.21954	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.58797	0.31	4.97	4.97	0.65823	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.44477	0.1295	N	0.25825	0.765	0.40556	D	0.981164	B	0.30889	0.299	B	0.25614	0.062	T	0.37776	-0.9691	9	0.20046	T	0.44	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	1478	Q9UFH2	DYH17_HUMAN	V	1479;1478	ENSP00000374490:A1478V	ENSP00000300671:A1479V	A	-	2	0	DNAH17	74015274	1.000000	0.71417	0.242000	0.24170	0.051000	0.14879	5.108000	0.64609	2.276000	0.75962	0.563000	0.77884	GCG		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		22	27	0	0	0	1	0	22	27				
NPSR1	387129	broad.mit.edu	37	7	34888160	34888160	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:34888160G>A	ENST00000360581.1	+	8	1038	c.910G>A	c.(910-912)Gac>Aac	p.D304N	NPSR1_ENST00000381542.1_Missense_Mutation_p.D238N|NPSR1_ENST00000381539.3_Missense_Mutation_p.D304N|NPSR1_ENST00000531252.1_Missense_Mutation_p.D293N|NPSR1_ENST00000359791.1_Missense_Mutation_p.D304N	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	304						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTCCTTCCAGACACCCAGGA	0.493																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(910-912)Gac>Aac		neuropeptide S receptor 1	Halothane(DB01159)						234.0	228.0	230.0					7																	34888160		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34888160G>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.910G>A	7.37:g.34888160G>A	ENSP00000353788:p.Asp304Asn					NPSR1_ENST00000381539.3_Missense_Mutation_p.D304N|NPSR1_ENST00000359791.1_Missense_Mutation_p.D304N|NPSR1_ENST00000531252.1_Missense_Mutation_p.D293N|NPSR1_ENST00000381542.1_Missense_Mutation_p.D238N	p.D304N	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			8	1038	+			304					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.910G>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756563	0.31137	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.22	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.296932	0.29165	N	0.012947	T	0.50854	0.1640	L	0.31526	0.94	0.32111	N	0.589261	B;B;B;B;B;B	0.29232	0.238;0.005;0.028;0.001;0.005;0.001	B;B;B;B;B;B	0.28011	0.085;0.004;0.011;0.008;0.004;0.006	T	0.48547	-0.9026	10	0.20519	T	0.43	-11.0033	6.6074	0.22734	0.2322:0.1285:0.6394:0.0	.	238;293;238;304;304;304	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	N	304;238;304;293;304;107	ENSP00000353788:D304N;ENSP00000370953:D238N;ENSP00000352839:D304N;ENSP00000433258:D293N;ENSP00000370950:D304N	ENSP00000334093:D107N	D	+	1	0	NPSR1	34854685	0.979000	0.34478	0.998000	0.56505	0.675000	0.39556	1.190000	0.32126	0.306000	0.22856	0.655000	0.94253	GAC		0.493	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		84	150	0	0	0	1	0	84	150				
TENM2	57451	broad.mit.edu	37	5	167689785	167689785	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167689785T>G	ENST00000518659.1	+	29	8334	c.8295T>G	c.(8293-8295)ttT>ttG	p.F2765L	TENM2_ENST00000519204.1_Missense_Mutation_p.F2644L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2764L|TENM2_ENST00000520394.1_Missense_Mutation_p.F2526L|TENM2_ENST00000403607.2_Missense_Mutation_p.F2589L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2765					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACATCCAGTTTTTAAGACAGA	0.488																																						ENST00000519204.1																			0											c.(7930-7932)ttT>ttG		teneurin transmembrane protein 2							28.0	29.0	29.0					5																	167689785		1954	4150	6104	SO:0001583	missense	57451							g.chr5:167689785T>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.8295T>G	5.37:g.167689785T>G	ENSP00000429430:p.Phe2765Leu					TENM2_ENST00000518659.1_Missense_Mutation_p.F2765L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2764L|TENM2_ENST00000403607.2_Missense_Mutation_p.F2589L|TENM2_ENST00000520394.1_Missense_Mutation_p.F2526L	p.F2644L							28	8050	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7932T>G		.	.	.	.	.	.	.	.	.	.	T	15.74	2.923002	0.52653	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.93488	-2.74;-2.73;-2.89;-3.16;-3.23	5.25	1.73	0.24493	.	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	M	0.69523	2.12	0.45205	D	0.998211	D;D;P	0.76494	0.999;0.998;0.954	D;D;D	0.87578	0.998;0.995;0.943	D	0.92661	0.6141	10	0.51188	T	0.08	.	8.059	0.30623	0.0:0.3886:0.0:0.6114	.	2764;2765;2526	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2765;2764;2644;2526;2589	ENSP00000429430:F2765L;ENSP00000438635:F2764L;ENSP00000428964:F2644L;ENSP00000427874:F2526L;ENSP00000384905:F2589L	ENSP00000384905:F2589L	F	+	3	2	ODZ2	167622363	0.996000	0.38824	0.996000	0.52242	0.998000	0.95712	0.340000	0.19892	0.132000	0.18615	0.459000	0.35465	TTT		0.488	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		9	14	0	0	0	1	0	9	14				
NAV2	89797	broad.mit.edu	37	11	20101616	20101616	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20101616G>A	ENST00000396087.3	+	27	5453	c.5354G>A	c.(5353-5355)gGc>gAc	p.G1785D	NAV2_ENST00000396085.1_Missense_Mutation_p.G1729D|NAV2_ENST00000349880.4_Missense_Mutation_p.G1729D|NAV2_ENST00000533917.1_Missense_Mutation_p.G793D|NAV2_ENST00000311043.8_Missense_Mutation_p.G793D|NAV2_ENST00000360655.4_Missense_Mutation_p.G1665D|NAV2_ENST00000540292.1_Missense_Mutation_p.G1716D|NAV2_ENST00000527559.2_Missense_Mutation_p.G1714D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1785					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCAGGAAACGGCACTGCCCAG	0.577																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(5185-5187)gGc>gAc		neuron navigator 2							46.0	44.0	45.0					11																	20101616		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20101616G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5354G>A	11.37:g.20101616G>A	ENSP00000379396:p.Gly1785Asp					NAV2_ENST00000533917.1_Missense_Mutation_p.G793D|NAV2_ENST00000360655.4_Missense_Mutation_p.G1665D|NAV2_ENST00000527559.2_Missense_Mutation_p.G1714D|NAV2_ENST00000396087.3_Missense_Mutation_p.G1785D|NAV2_ENST00000349880.4_Missense_Mutation_p.G1729D|NAV2_ENST00000311043.8_Missense_Mutation_p.G793D|NAV2_ENST00000540292.1_Missense_Mutation_p.G1716D	p.G1729D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			25	5547	+			1785					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5186G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875420	0.91664	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.71	5.71	0.89125	.	0.095340	0.46145	D	0.000313	D	0.92750	0.7695	N	0.12182	0.205	0.80722	D	1	D;D;B;D;D;D	0.69078	0.986;0.96;0.277;0.996;0.992;0.997	P;P;B;P;P;D	0.65443	0.738;0.624;0.079;0.9;0.866;0.935	D	0.91889	0.5522	9	.	.	.	.	19.8535	0.96748	0.0:0.0:1.0:0.0	.	1729;1785;793;778;1729;1665	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	D	1665;1729;1729;1785;1714;1716;793;778;793;778	ENSP00000353871:G1665D;ENSP00000379394:G1729D;ENSP00000309577:G1729D;ENSP00000379396:G1785D;ENSP00000435395:G1714D;ENSP00000443489:G1716D;ENSP00000437316:G793D;ENSP00000437136:G778D;ENSP00000312169:G793D	.	G	+	2	0	NAV2	20058192	0.999000	0.42202	0.094000	0.20943	0.020000	0.10135	3.848000	0.55903	2.694000	0.91930	0.557000	0.71058	GGC		0.577	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		15	33	0	0	0	1	0	15	33				
MEPE	56955	broad.mit.edu	37	4	88766288	88766288	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88766288T>C	ENST00000424957.3	+	4	341	c.268T>C	c.(268-270)Ttc>Ctc	p.F90L	MEPE_ENST00000497649.2_Missense_Mutation_p.F66L|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.F121L|MEPE_ENST00000361056.3_Missense_Mutation_p.F90L	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	90					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TCAAAATTATTTCACAAATAG	0.338																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(196-198)Ttc>Ctc		matrix extracellular phosphoglycoprotein							57.0	61.0	59.0					4																	88766288		2203	4299	6502	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766288T>C	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.268T>C	4.37:g.88766288T>C	ENSP00000416984:p.Phe90Leu					MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.F90L|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.F121L|MEPE_ENST00000424957.3_Missense_Mutation_p.F90L	p.F66L			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	574	+		Hepatocellular(203;0.114)	90					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.196T>C	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	T	0.695	-0.793188	0.02862	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000361056	T;T;T;T	0.41758	4.37;1.0;0.99;4.37	4.99	1.12	0.20585	.	0.901960	0.09326	N	0.817582	T	0.22166	0.0534	N	0.20807	0.61	0.09310	N	0.999999	B	0.13145	0.007	B	0.16722	0.016	T	0.29305	-1.0016	10	0.02654	T	1	5.5853	6.596	0.22674	0.0:0.3113:0.0:0.6887	.	90	Q9NQ76	MEPE_HUMAN	L	90;90;121;66;90	ENSP00000416984:F90L;ENSP00000378534:F121L;ENSP00000422747:F66L;ENSP00000354341:F90L	ENSP00000354341:F90L	F	+	1	0	MEPE	88985312	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.072000	0.14617	0.054000	0.16065	-0.408000	0.06270	TTC		0.338	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			23	42	0	0	0	1	0	23	42				
ARMC4P1	101060171	broad.mit.edu	37	10	27552106	27552106	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27552106A>C	ENST00000576034.1	+	0	362									armadillo repeat containing 4 pseudogene 1																		GTGGAACACAAGTTTGGCGCC	0.353																																						ENST00000576034.1																			0																																																			0							g.chr10:27552106A>C			10p12.1	2012-12-19			ENSG00000238021	ENSG00000238021			44937	pseudogene	pseudogene							Standard	XM_006709935		Approved				OTTHUMG00000017856		10.37:g.27552106A>C														0	362	+									RNA	SNP	ENST00000576034.1	37																																																																																						0.353	ARMC4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436997.1			5	22	0	0	0	1	0	5	22				
ZNF485	220992	broad.mit.edu	37	10	44112550	44112550	+	Silent	SNP	G	G	A	rs141606024	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:44112550G>A	ENST00000361807.3	+	5	1253	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	ZNF485_ENST00000374435.3_Silent_p.P353P|ZNF485_ENST00000374437.2_Silent_p.P262P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAATAAACCGTATCAGTGTC	0.418													G|||	3	0.000599042	0.0	0.0029	5008	,	,		21085	0.0		0.001	False		,,,				2504	0.0					ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(1057-1059)ccG>ccA		zinc finger protein 485		G		2,4404	4.2+/-10.8	0,2,2201	117.0	107.0	111.0		1059	0.9	0.0	10	dbSNP_134	111	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous	ZNF485	NM_145312.3		0,12,6491	AA,AG,GG		0.1163,0.0454,0.0923		353/442	44112550	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112550G>A	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1059G>A	10.37:g.44112550G>A						ZNF485_ENST00000374435.3_Silent_p.P353P|ZNF485_ENST00000374437.2_Silent_p.P262P	p.P353P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	1253	+			353					B4DSE6|Q96CL0	Silent	SNP	ENST00000361807.3	37	c.1059G>A	CCDS7205.2																																																																																				0.418	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		22	50	0	0	0	1	0	22	50				
ZNF850	342892	broad.mit.edu	37	19	37240057	37240057	+	Missense_Mutation	SNP	G	G	A	rs548300280		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37240057G>A	ENST00000591344.1	-	5	2043	c.1885C>T	c.(1885-1887)Cgt>Tgt	p.R629C	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTCGTAAACGAAGTCTAAAG	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23027	0.0		0.0	False		,,,				2504	0.0					ENST00000591344.1																			0											c.(1885-1887)Cgt>Tgt		zinc finger protein 850																																				SO:0001583	missense	342892				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37240057G>A	BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.1885C>T	19.37:g.37240057G>A	ENSP00000464976:p.Arg629Cys					ZNF850_ENST00000589390.1_Intron	p.R629C	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN			5	2043	-			629						Missense_Mutation	SNP	ENST00000591344.1	37	c.1885C>T	CCDS59379.1																																																																																				0.408	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453557.1	XM_001720258		10	14	0	0	0	1	0	10	14				
CFAP97	57587	broad.mit.edu	37	4	186111423	186111423	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186111423T>G	ENST00000458385.2	-	2	1047	c.928A>C	c.(928-930)Aaa>Caa	p.K310Q	KIAA1430_ENST00000296775.6_Missense_Mutation_p.K310Q|KIAA1430_ENST00000514798.1_Missense_Mutation_p.K310Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		310										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TCTTTCCCTTTTTTGGCTGCT	0.333																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(928-930)Aaa>Caa		KIAA1430							76.0	66.0	70.0					4																	186111423		1827	4091	5918	SO:0001583	missense	57587							g.chr4:186111423T>G																												ENST00000458385.2:c.928A>C	4.37:g.186111423T>G	ENSP00000409964:p.Lys310Gln					KIAA1430_ENST00000296775.6_Missense_Mutation_p.K310Q|KIAA1430_ENST00000514798.1_Missense_Mutation_p.K310Q	p.K310Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	1047	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	310					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.928A>C	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	T	7.523	0.657028	0.14580	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.47177	1.43;0.85;0.85	5.03	3.87	0.44632	.	0.399998	0.24846	N	0.035136	T	0.57902	0.2085	M	0.63428	1.95	0.09310	N	0.999997	D;D	0.76494	0.999;0.998	D;P	0.70016	0.967;0.905	T	0.47522	-0.9111	10	0.39692	T	0.17	-21.0488	5.6617	0.17672	0.1634:0.0853:0.0:0.7512	.	310;310	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	Q	310	ENSP00000409964:K310Q;ENSP00000423312:K310Q;ENSP00000296775:K310Q	ENSP00000296775:K310Q	K	-	1	0	KIAA1430	186348417	0.515000	0.26210	0.932000	0.37286	0.039000	0.13416	1.368000	0.34216	2.234000	0.73211	0.533000	0.62120	AAA		0.333	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			12	19	0	0	0	1	0	12	19				
SI	6476	broad.mit.edu	37	3	164793787	164793787	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164793787T>G	ENST00000264382.3	-	2	76	c.14A>C	c.(13-15)aAa>aCa	p.K5T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	5					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCCACTAAATTTCTTTCTTGC	0.269										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(13-15)aAa>aCa		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						43.0	44.0	43.0					3																	164793787		2203	4293	6496	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164793787T>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.14A>C	3.37:g.164793787T>G	ENSP00000264382:p.Lys5Thr	HNSCC(35;0.089)					p.K5T	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			2	76	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	5					A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.14A>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820376	0.50633	.	.	ENSG00000090402	ENST00000264382	D	0.90504	-2.68	5.68	5.68	0.88126	.	0.175893	0.49305	D	0.000153	D	0.94604	0.8261	M	0.81341	2.54	0.39320	D	0.965237	D	0.76494	0.999	D	0.66196	0.942	D	0.95454	0.8537	10	0.72032	D	0.01	.	12.3272	0.55018	0.0:0.0:0.0:1.0	.	5	P14410	SUIS_HUMAN	T	5	ENSP00000264382:K5T	ENSP00000264382:K5T	K	-	2	0	SI	166276481	1.000000	0.71417	0.543000	0.28128	0.951000	0.60555	4.656000	0.61483	2.182000	0.69389	0.533000	0.62120	AAA		0.269	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		23	23	0	0	0	1	0	23	23				
BDH2	56898	broad.mit.edu	37	4	104003288	104003288	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:104003288C>T	ENST00000296424.4	-	9	754	c.634G>A	c.(634-636)Gca>Aca	p.A212T		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	212					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TCTGCAGTTGCGAATCTTCCC	0.463																																						ENST00000296424.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(634-636)Gca>Aca		3-hydroxybutyrate dehydrogenase, type 2							139.0	122.0	128.0					4																	104003288		2203	4300	6503	SO:0001583	missense	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104003288C>T	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.634G>A	4.37:g.104003288C>T	ENSP00000296424:p.Ala212Thr						p.A212T	NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	9	754	-		Hepatocellular(203;0.217)	212					A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	ENST00000296424.4	37	c.634G>A	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379806	0.82682	.	.	ENSG00000164039	ENST00000296424	T	0.23348	1.91	5.03	5.03	0.67393	NAD(P)-binding domain (1);	0.099000	0.64402	D	0.000001	T	0.36991	0.0987	M	0.64567	1.98	0.39819	D	0.972812	D	0.55172	0.97	P	0.48030	0.564	T	0.39921	-0.9590	10	0.87932	D	0	.	17.5072	0.87749	0.0:1.0:0.0:0.0	.	212	Q9BUT1	BDH2_HUMAN	T	212	ENSP00000296424:A212T	ENSP00000296424:A212T	A	-	1	0	BDH2	104222737	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	4.646000	0.61411	2.488000	0.83962	0.655000	0.94253	GCA		0.463	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		6	14	0	0	0	1	0	6	14				
BRD1	23774	broad.mit.edu	37	22	50191483	50191483	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:50191483C>T	ENST00000216267.8	-	5	2554	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T	BRD1_ENST00000542442.1_Missense_Mutation_p.A378T|BRD1_ENST00000404034.1_Missense_Mutation_p.A690T|BRD1_ENST00000342989.5_Missense_Mutation_p.A285T|BRD1_ENST00000404760.1_Missense_Mutation_p.A690T|BRD1_ENST00000457780.2_Missense_Mutation_p.A690T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	690					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGCCGCGGTGCCGCAGCAGGC	0.647																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(2068-2070)Gca>Aca		bromodomain containing 1							23.0	25.0	24.0					22																	50191483		2203	4297	6500	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50191483C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2068G>A	22.37:g.50191483C>T	ENSP00000216267:p.Ala690Thr					BRD1_ENST00000457780.2_Missense_Mutation_p.A690T|BRD1_ENST00000404760.1_Missense_Mutation_p.A690T|BRD1_ENST00000342989.5_Missense_Mutation_p.A285T|BRD1_ENST00000404034.1_Missense_Mutation_p.A690T|BRD1_ENST00000542442.1_Missense_Mutation_p.A378T	p.A690T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	5	2554	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	690					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.2068G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638622	0.29157	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.27720	2.58;2.58;2.58;2.4;1.65;2.02	5.44	5.44	0.79542	.	0.289595	0.37906	N	0.001883	T	0.26484	0.0647	L	0.34521	1.04	0.26572	N	0.973544	B;B;B;B	0.26002	0.009;0.139;0.031;0.016	B;B;B;B	0.21546	0.013;0.035;0.013;0.029	T	0.08126	-1.0737	10	0.21540	T	0.41	.	19.2518	0.93926	0.0:1.0:0.0:0.0	.	690;285;690;690	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	690;690;690;690;378;285;150	ENSP00000216267:A690T;ENSP00000384076:A690T;ENSP00000385858:A690T;ENSP00000410042:A690T;ENSP00000437514:A378T;ENSP00000345886:A285T	ENSP00000216267:A690T	A	-	1	0	BRD1	48577487	0.988000	0.35896	0.416000	0.26546	0.023000	0.10783	3.063000	0.49978	2.546000	0.85860	0.655000	0.94253	GCA		0.647	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		17	13	0	0	0	1	0	17	13				
MAP2K5	5607	broad.mit.edu	37	15	68061960	68061960	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68061960T>C	ENST00000178640.5	+	20	1782	c.1155T>C	c.(1153-1155)gtT>gtC	p.V385V	MAP2K5_ENST00000395476.2_Silent_p.V375V|MAP2K5_ENST00000354498.5_Silent_p.V349V|MAP2K5_ENST00000340972.4_Silent_p.V195V	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TCCTTCCAGTTGGAGAGTTCT	0.453																																						ENST00000178640.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						c.(1153-1155)gtT>gtC		mitogen-activated protein kinase kinase 5							142.0	120.0	127.0					15																	68061960		2200	4298	6498	SO:0001819	synonymous_variant	5607				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:68061960T>C	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.1155T>C	15.37:g.68061960T>C						MAP2K5_ENST00000340972.4_Silent_p.V195V|MAP2K5_ENST00000354498.5_Silent_p.V349V|MAP2K5_ENST00000395476.2_Silent_p.V375V	p.V385V	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN			20	1782	+			385			Protein kinase.		B4DE43|Q92961|Q92962	Silent	SNP	ENST00000178640.5	37	c.1155T>C	CCDS10224.1																																																																																				0.453	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162		4	28	0	0	0	1	0	4	28				
PWP1	11137	broad.mit.edu	37	12	108104226	108104226	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108104226T>G	ENST00000412830.3	+	14	1503	c.1335T>G	c.(1333-1335)atT>atG	p.I445M	PWP1_ENST00000541166.1_Missense_Mutation_p.I383M	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	445					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGCCATTTATTTATGCCTTTG	0.448																																						ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(1333-1335)atT>atG		PWP1 homolog (S. cerevisiae)							170.0	170.0	170.0					12																	108104226		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108104226T>G	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1335T>G	12.37:g.108104226T>G	ENSP00000387365:p.Ile445Met					PWP1_ENST00000541166.1_Missense_Mutation_p.I383M	p.I445M	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN			14	1503	+			445					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.1335T>G	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820502	0.32145	.	.	ENSG00000136045	ENST00000412830;ENST00000541166	T;T	0.35236	1.32;1.99	5.75	2.0	0.26442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.426346	0.27451	N	0.019304	T	0.16811	0.0404	N	0.08118	0	0.29136	N	0.879324	B	0.13594	0.008	B	0.17098	0.017	T	0.10222	-1.0639	10	0.46703	T	0.11	.	6.0854	0.19964	0.0:0.2046:0.1267:0.6687	.	445	Q13610	PWP1_HUMAN	M	445;383	ENSP00000387365:I445M;ENSP00000445249:I383M	ENSP00000387365:I445M	I	+	3	3	PWP1	106628356	0.591000	0.26824	0.998000	0.56505	0.998000	0.95712	-0.302000	0.08221	0.427000	0.26145	0.528000	0.53228	ATT		0.448	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		5	62	0	0	0	1	0	5	62				
PSMA4	5685	broad.mit.edu	37	15	78837280	78837280	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78837280A>C	ENST00000044462.7	+	6	507	c.357A>C	c.(355-357)caA>caC	p.Q119H	PSMA4_ENST00000558094.1_Missense_Mutation_p.Q31H|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000559082.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000558281.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000560217.1_Missense_Mutation_p.Q88H|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.Q48H	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	119					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ATATCAAACAAGCTTATACAC	0.313																																						ENST00000044462.7																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(355-357)caA>caC		proteasome (prosome, macropain) subunit, alpha type, 4							85.0	83.0	84.0					15																	78837280		2196	4293	6489	SO:0001583	missense	5685				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr15:78837280A>C	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.357A>C	15.37:g.78837280A>C	ENSP00000044462:p.Gln119His					PSMA4_ENST00000560217.1_Missense_Mutation_p.Q88H|PSMA4_ENST00000559082.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000558281.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558094.1_Missense_Mutation_p.Q31H|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.Q48H	p.Q119H	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN			6	507	+			119					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	c.357A>C	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001004	0.54254	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	T;T	0.26660	1.72;1.72	5.81	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42068	-0.9473	10	0.62326	D	0.03	-23.0772	8.4082	0.32627	0.6858:0.0:0.3142:0.0	.	119	P25789	PSA4_HUMAN	H	48;119	ENSP00000402118:Q48H;ENSP00000044462:Q119H	ENSP00000044462:Q119H	Q	+	3	2	PSMA4	76624335	0.995000	0.38212	1.000000	0.80357	0.640000	0.38277	1.301000	0.33447	0.355000	0.24131	0.533000	0.62120	CAA		0.313	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		11	18	0	0	0	1	0	11	18				
PDXDC2P	283970	broad.mit.edu	37	16	70011999	70011999	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:70011999C>A	ENST00000531894.1	-	0	2535				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										AAGAGGCTTTCTTGCAGAGGG	0.463																																						ENST00000325845.7																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(526-528)aGa>aTa																																								0							g.chr16:70011999C>A			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70011999C>A						RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R208I|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR	p.R176I							25	2596	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.527G>T		.	.	.	.	.	.	.	.	.	.	.	8.762	0.923781	0.18056	.	.	ENSG00000226232	ENST00000532298;ENST00000325845	T;T	0.60299	0.2;0.2	0.659	-1.32	0.09201	.	.	.	.	.	T	0.68540	0.3012	.	.	.	.	.	.	D	0.76494	0.999	D	0.77557	0.99	T	0.66881	-0.5811	6	0.87932	D	0	.	.	.	.	.	208	A8MZ50	NPIL4_HUMAN	I	208;176	ENSP00000448651:R208I;ENSP00000449128:R176I	ENSP00000449128:R176I	R	-	2	0	RP11-419C5.2	68569500	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	-0.719000	0.04974	-1.200000	0.02662	-0.976000	0.02587	AGA		0.463	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			10	222	1	0	1.76689e-08	1	2.08373e-08	10	222				
HABP2	3026	broad.mit.edu	37	10	115335708	115335708	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115335708G>A	ENST00000351270.3	+	4	372	c.276G>A	c.(274-276)ggG>ggA	p.G92G	HABP2_ENST00000541666.1_Silent_p.G92G|HABP2_ENST00000537906.1_Missense_Mutation_p.G81E|HABP2_ENST00000542051.1_Silent_p.G66G	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	92	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	TCGTCCATGGGAGCACCTTCA	0.527																																						ENST00000537906.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(241-243)gGa>gAa		hyaluronan binding protein 2							207.0	175.0	186.0					10																	115335708		2203	4300	6503	SO:0001819	synonymous_variant	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115335708G>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.276G>A	10.37:g.115335708G>A						HABP2_ENST00000351270.3_Silent_p.G92G|HABP2_ENST00000541666.1_Silent_p.G92G|HABP2_ENST00000542051.1_Silent_p.G66G	p.G81E			Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	5	404	+		Colorectal(252;0.0233)|Breast(234;0.0672)	0			EGF-like 1.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.242G>A	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	G	8.853	0.945144	0.18356	.	.	ENSG00000148702	ENST00000537906	.	.	.	5.93	3.84	0.44239	.	0.108147	0.64402	D	0.000005	T	0.23289	0.0563	.	.	.	0.09310	N	1	P	0.41673	0.759	B	0.37451	0.25	T	0.28554	-1.0040	8	0.87932	D	0	.	4.2944	0.10894	0.1351:0.0:0.6424:0.2225	.	81	F5H475	.	E	81	.	ENSP00000446135:G81E	G	+	2	0	HABP2	115325698	0.200000	0.23398	0.094000	0.20943	0.002000	0.02628	0.519000	0.22862	2.814000	0.96858	0.563000	0.77884	GGA		0.527	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		58	117	0	0	0	1	0	58	117				
UNC5A	90249	broad.mit.edu	37	5	176304275	176304275	+	Silent	SNP	C	C	T	rs150349541		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176304275C>T	ENST00000329542.4	+	9	1735	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	UNC5A_ENST00000261961.3_Silent_p.D447D	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	487	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCGGAAGACGTGAGGTGTG	0.652																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1459-1461)gaC>gaT		unc-5 homolog A (C. elegans)		C		0,4406		0,0,2203	45.0	44.0	44.0		1461	-2.0	1.0	5	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UNC5A	NM_133369.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		487/843	176304275	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304275C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1461C>T	5.37:g.176304275C>T						UNC5A_ENST00000261961.3_Silent_p.D447D	p.D487D	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1735	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	487			ZU5.		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.1461C>T	CCDS34299.1																																																																																				0.652	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		29	36	0	0	0	1	0	29	36				
EVX1	2128	broad.mit.edu	37	7	27282795	27282795	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27282795G>A	ENST00000496902.4	+	1	632	c.146G>A	c.(145-147)aGc>aAc	p.S49N	EVX1_ENST00000535619.1_5'Flank|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.S49N|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|RP1-170O19.17_ENST00000523608.2_lincRNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	49					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GGTTGCCTGAGCCCTCGGGCC	0.726																																						ENST00000496902.4																			0				kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						c.(145-147)aGc>aAc		even-skipped homeobox 1							13.0	14.0	14.0					7																	27282795		2184	4284	6468	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27282795G>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.146G>A	7.37:g.27282795G>A	ENSP00000419266:p.Ser49Asn					EVX1_ENST00000222761.3_Missense_Mutation_p.S49N|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA	p.S49N			P49640	EVX1_HUMAN			1	632	+			49					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.146G>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071701	0.76301	.	.	ENSG00000106038	ENST00000496902;ENST00000222761	D	0.92149	-2.98	5.13	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.94840	0.8333	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.65323	0.934;0.884	D	0.94820	0.7986	10	0.62326	D	0.03	-27.492	13.7681	0.63008	0.0749:0.0:0.9251:0.0	.	49;49	F8W9J5;P49640	.;EVX1_HUMAN	N	49	ENSP00000419266:S49N	ENSP00000222761:S49N	S	+	2	0	EVX1	27249320	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.237000	0.78164	1.151000	0.42436	0.462000	0.41574	AGC		0.726	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			6	10	0	0	0	1	0	6	10				
NKAP	79576	broad.mit.edu	37	X	119070327	119070327	+	Silent	SNP	C	C	T	rs10577974		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119070327C>T	ENST00000371410.3	-	4	772	c.606G>A	c.(604-606)tcG>tcA	p.S202S	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	202	Lys-rich.|Necessary for interaction with CIR1.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTTTCTTTTCGATGATTTTT	0.348																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(604-606)tcG>tcA		NFKB activating protein							160.0	136.0	144.0					X																	119070327		2203	4300	6503	SO:0001819	synonymous_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119070327C>T	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.606G>A	X.37:g.119070327C>T						NKAP_ENST00000477789.1_5'UTR	p.S202S	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			4	772	-			202			Lys-rich.|Necessary for interaction with CIR1.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.606G>A	CCDS14592.1																																																																																				0.348	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		10	38	0	0	0	1	0	10	38				
GRM2	2912	broad.mit.edu	37	3	51749334	51749334	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51749334C>T	ENST00000395052.3	+	4	1779	c.1545C>T	c.(1543-1545)ggC>ggT	p.G515G	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	515					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCAGCCGGGCGAAGTCTGCT	0.632																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1543-1545)ggC>ggT		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						32.0	30.0	30.0					3																	51749334		2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749334C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1545C>T	3.37:g.51749334C>T						GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	p.G515G	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	1779	+			515					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.1545C>T	CCDS2834.1																																																																																				0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			15	20	0	0	0	1	0	15	20				
DPP10	57628	broad.mit.edu	37	2	116548868	116548868	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:116548868C>A	ENST00000410059.1	+	19	2116	c.1636C>A	c.(1636-1638)Cct>Act	p.P546T	DPP10_ENST00000409163.1_Missense_Mutation_p.P496T|DPP10_ENST00000393147.2_Missense_Mutation_p.P550T|DPP10_ENST00000310323.8_Missense_Mutation_p.P539T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	546						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAAGAACTTCCTTTACAGTT	0.313																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1636-1638)Cct>Act		dipeptidyl-peptidase 10 (non-functional)							88.0	92.0	91.0					2																	116548868		2202	4298	6500	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548868C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1636C>A	2.37:g.116548868C>A	ENSP00000386565:p.Pro546Thr					DPP10_ENST00000310323.8_Missense_Mutation_p.P539T|DPP10_ENST00000393147.2_Missense_Mutation_p.P550T|DPP10_ENST00000409163.1_Missense_Mutation_p.P496T	p.P546T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			19	2116	+			546					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1636C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482069	0.44147	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.54	5.54	0.83059	.	0.054433	0.85682	D	0.000000	T	0.49440	0.1557	M	0.62723	1.935	0.49389	D	0.999787	B;D;B;B	0.54772	0.364;0.968;0.249;0.249	B;P;B;B	0.48334	0.106;0.574;0.033;0.049	T	0.42344	-0.9457	10	0.37606	T	0.19	-14.1659	16.7938	0.85596	0.0:1.0:0.0:0.0	.	539;550;542;546	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	T	546;496;550;539;496	ENSP00000386565:P546T;ENSP00000387038:P496T;ENSP00000376855:P550T;ENSP00000309066:P539T	ENSP00000309066:P539T	P	+	1	0	DPP10	116265338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.224000	0.65288	2.880000	0.98712	0.650000	0.86243	CCT		0.313	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		11	31	1	0	3.27435e-08	1	3.83577e-08	11	31				
THSD1	55901	broad.mit.edu	37	13	52971819	52971819	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52971819G>A	ENST00000258613.4	-	3	747	c.569C>T	c.(568-570)aCc>aTc	p.T190I	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Missense_Mutation_p.T190I|RNY4P24_ENST00000362735.1_RNA	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	190					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CCTTTTGCTGGTTCTTATTTC	0.517																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(568-570)aCc>aTc		thrombospondin, type I, domain containing 1							80.0	68.0	72.0					13																	52971819		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971819G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.569C>T	13.37:g.52971819G>A	ENSP00000258613:p.Thr190Ile					THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.T190I	p.T190I	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1113	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	190					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.569C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	7.552	0.662807	0.14710	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.18960	2.18;2.32	5.54	-1.42	0.08913	.	0.898609	0.09711	N	0.765693	T	0.13200	0.0320	N	0.21097	0.63	0.09310	N	1	B;B	0.23735	0.002;0.09	B;B	0.23018	0.007;0.043	T	0.32851	-0.9891	10	0.30854	T	0.27	-0.6871	10.1656	0.42877	0.1361:0.4082:0.4557:0.0	.	190;190	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	I	190	ENSP00000340650:T190I;ENSP00000258613:T190I	ENSP00000258613:T190I	T	-	2	0	THSD1	51869820	0.997000	0.39634	0.016000	0.15963	0.659000	0.38960	0.447000	0.21710	-0.215000	0.10063	0.561000	0.74099	ACC		0.517	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			15	38	0	0	0	1	0	15	38				
ARID1B	57492	broad.mit.edu	37	6	157528886	157528886	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:157528886C>T	ENST00000350026.5	+	19	6573	c.6572C>T	c.(6571-6573)gCc>gTc	p.A2191V	ARID1B_ENST00000275248.4_Missense_Mutation_p.A2186V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A2244V|ARID1B_ENST00000346085.5_Missense_Mutation_p.A2204V	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2191					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCTTTGCTAGCCATGGCCAGA	0.572																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6610-6612)gCc>gTc		AT rich interactive domain 1B (SWI1-like)							110.0	105.0	107.0					6																	157528886		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528886C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6572C>T	6.37:g.157528886C>T	ENSP00000055163:p.Ala2191Val					ARID1B_ENST00000275248.4_Missense_Mutation_p.A2186V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A2244V|ARID1B_ENST00000350026.5_Missense_Mutation_p.A2191V	p.A2204V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6612	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2191					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6611C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352668	0.61293	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.61	5.61	0.85477	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.65022	-0.6269	10	0.66056	D	0.02	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	2191;2204;2186	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	V	2204;2191;2244;2186;1713	ENSP00000344546:A2204V;ENSP00000055163:A2191V;ENSP00000356116:A2244V;ENSP00000275248:A2186V;ENSP00000412835:A1713V	ENSP00000275248:A2186V	A	+	2	0	ARID1B	157570578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	2.793000	0.96121	0.655000	0.94253	GCC		0.572	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		43	80	0	0	0	1	0	43	80				
ARHGAP31	57514	broad.mit.edu	37	3	119134773	119134773	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119134773T>C	ENST00000264245.4	+	12	4529	c.3997T>C	c.(3997-3999)Tct>Cct	p.S1333P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1333					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATCTGGGGGTTCTAAGCCTTT	0.517																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3997-3999)Tct>Cct		Rho GTPase activating protein 31							103.0	108.0	106.0					3																	119134773		1906	4117	6023	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134773T>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3997T>C	3.37:g.119134773T>C	ENSP00000264245:p.Ser1333Pro						p.S1333P	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	4529	+			1333					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3997T>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811230	0.32053	.	.	ENSG00000031081	ENST00000264245	T	0.55588	0.51	5.74	4.38	0.52667	.	0.103046	0.43919	N	0.000520	T	0.35885	0.0947	N	0.19112	0.55	0.40290	D	0.978497	B	0.17465	0.022	B	0.14578	0.011	T	0.14559	-1.0468	10	0.46703	T	0.11	.	9.2554	0.37579	0.0:0.1094:0.0:0.8906	.	1333	Q2M1Z3	RHG31_HUMAN	P	1333	ENSP00000264245:S1333P	ENSP00000264245:S1333P	S	+	1	0	ARHGAP31	120617463	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.164000	0.50770	0.904000	0.36572	0.460000	0.39030	TCT		0.517	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			35	90	0	0	0	1	0	35	90				
FERMT1	55612	broad.mit.edu	37	20	6069709	6069709	+	Missense_Mutation	SNP	G	G	T	rs374069028		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6069709G>T	ENST00000217289.4	-	10	1955	c.1167C>A	c.(1165-1167)ttC>ttA	p.F389L	FERMT1_ENST00000536936.1_Missense_Mutation_p.F132L|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	389	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AATATTGTTTGAAAGCTTTTG	0.353																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1165-1167)ttC>ttA		fermitin family member 1							124.0	134.0	131.0					20																	6069709		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6069709G>T	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1167C>A	20.37:g.6069709G>T	ENSP00000217289:p.Phe389Leu					FERMT1_ENST00000536936.1_Missense_Mutation_p.F132L|FERMT1_ENST00000478194.1_5'UTR	p.F389L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			10	1955	-			389			FERM.|PH.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1167C>A	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	g	13.92	2.382034	0.42207	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	D;D	0.96300	-3.97;-3.97	5.89	4.93	0.64822	Band 4.1 domain (1);FERM central domain (2);Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.367224	0.35615	N	0.003096	D	0.93291	0.7862	L	0.41492	1.28	0.41499	D	0.988276	B;B	0.11235	0.004;0.0	B;B	0.17979	0.02;0.002	D	0.90533	0.4497	10	0.66056	D	0.02	-28.0447	11.2919	0.49256	0.0679:0.1286:0.8035:0.0	.	389;389	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	L	389;132;389	ENSP00000217289:F389L;ENSP00000441063:F132L	ENSP00000217289:F389L	F	-	3	2	FERMT1	6017709	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	5.712000	0.68407	1.488000	0.48433	-0.187000	0.12897	TTC		0.353	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		5	48	1	0	5.9392e-07	1	6.75488e-07	5	48				
ZNF106	64397	broad.mit.edu	37	15	42742690	42742690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42742690C>A	ENST00000263805.4	-	2	2037	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	571					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTTTCAGATTCTTCTACATTT	0.393																																						ENST00000263805.4																			0											c.(1711-1713)Gaa>Taa		zinc finger protein 106							104.0	104.0	104.0					15																	42742690		2203	4299	6502	SO:0001587	stop_gained	64397							g.chr15:42742690C>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1711G>T	15.37:g.42742690C>A	ENSP00000263805:p.Glu571*					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.E571*	NM_022473.1	NP_071918.1					2	2037	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Nonsense_Mutation	SNP	ENST00000263805.4	37	c.1711G>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	39	7.403560	0.98262	.	.	ENSG00000103994	ENST00000263805	.	.	.	5.01	5.01	0.66863	.	0.134283	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.3692	18.8525	0.92238	0.0:1.0:0.0:0.0	.	.	.	.	X	571	.	ENSP00000263805:E571X	E	-	1	0	ZFP106	40529982	0.987000	0.35691	1.000000	0.80357	0.987000	0.75469	3.365000	0.52335	2.748000	0.94277	0.637000	0.83480	GAA		0.393	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		29	74	1	0	1.5548e-18	1	2.10666e-18	29	74				
SLC36A2	153201	broad.mit.edu	37	5	150696383	150696383	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150696383G>A	ENST00000335244.4	-	10	1576	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	SLC36A2_ENST00000450886.1_Missense_Mutation_p.R207W	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	483					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CAGGCTCACCGAACAAAAGTG	0.483																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1447-1449)Cgg>Tgg		solute carrier family 36 (proton/amino acid symporter), member 2							69.0	78.0	75.0					5																	150696383		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150696383G>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1447C>T	5.37:g.150696383G>A	ENSP00000334223:p.Arg483Trp					SLC36A2_ENST00000450886.1_Missense_Mutation_p.R207W	p.R483W	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1576	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	483					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.1447C>T	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962243	0.53400	.	.	ENSG00000186335	ENST00000335244;ENST00000450886	T;T	0.10477	3.66;2.87	4.92	4.05	0.47172	.	0.762389	0.12203	N	0.490038	T	0.06462	0.0166	N	0.08118	0	0.22317	N	0.999202	P	0.46277	0.875	B	0.37508	0.252	T	0.27365	-1.0076	10	0.72032	D	0.01	-14.8723	13.3961	0.60853	0.0767:0.0:0.9233:0.0	.	483	Q495M3	S36A2_HUMAN	W	483;207	ENSP00000334223:R483W;ENSP00000399479:R207W	ENSP00000334223:R483W	R	-	1	2	SLC36A2	150676576	0.479000	0.25925	0.123000	0.21794	0.087000	0.18053	2.335000	0.43929	1.440000	0.47531	0.650000	0.86243	CGG		0.483	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			21	57	0	0	0	1	0	21	57				
HKDC1	80201	broad.mit.edu	37	10	71020933	71020933	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:71020933T>G	ENST00000354624.5	+	16	2388	c.2255T>G	c.(2254-2256)aTt>aGt	p.I752S	HKDC1_ENST00000395086.2_Missense_Mutation_p.I752S	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	752	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTGGGGGAGATTGTGCGGCAG	0.527																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(2254-2256)aTt>aGt		hexokinase domain containing 1							118.0	95.0	103.0					10																	71020933		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71020933T>G		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2255T>G	10.37:g.71020933T>G	ENSP00000346643:p.Ile752Ser					HKDC1_ENST00000395086.2_Missense_Mutation_p.I752S	p.I752S	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			16	2388	+			752					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.2255T>G	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428926	0.83667	.	.	ENSG00000156510	ENST00000354624;ENST00000395086	D;D	0.97455	-4.39;-4.39	4.66	4.66	0.58398	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	H	0.98276	4.19	0.58432	D	0.999999	D	0.67145	0.996	D	0.74023	0.982	D	0.99029	1.0820	10	0.87932	D	0	-16.4402	14.2344	0.65916	0.0:0.0:0.0:1.0	.	752	Q2TB90	HKDC1_HUMAN	S	752	ENSP00000346643:I752S;ENSP00000378521:I752S	ENSP00000346643:I752S	I	+	2	0	HKDC1	70690939	1.000000	0.71417	0.984000	0.44739	0.981000	0.71138	7.868000	0.87116	1.949000	0.56562	0.402000	0.26972	ATT		0.527	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		21	45	0	0	0	1	0	21	45				
KCTD8	386617	broad.mit.edu	37	4	44176933	44176933	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:44176933C>T	ENST00000360029.3	-	2	1579	c.1296G>A	c.(1294-1296)gaG>gaA	p.E432E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	432					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CACTTAGCTTCTCACAGACTT	0.413										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1294-1296)gaG>gaA		potassium channel tetramerization domain containing 8							191.0	199.0	197.0					4																	44176933		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44176933C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1296G>A	4.37:g.44176933C>T		HNSCC(17;0.042)					p.E432E	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			2	1579	-			432					A2RU39	Silent	SNP	ENST00000360029.3	37	c.1296G>A	CCDS3467.1																																																																																				0.413	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			71	125	0	0	0	1	0	71	125				
SLC2A10	81031	broad.mit.edu	37	20	45362452	45362452	+	Silent	SNP	C	C	T	rs148470005		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45362452C>T	ENST00000359271.2	+	5	1855	c.1605C>T	c.(1603-1605)atC>atT	p.I535I		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	535					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ACAGCCGCATCGAGATCTCTG	0.592													T|||	1	0.000199681	0.0	0.0	5008	,	,		19477	0.0		0.001	False		,,,				2504	0.0					ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1603-1605)atC>atT		solute carrier family 2 (facilitated glucose transporter), member 10							95.0	78.0	83.0					20																	45362452		2203	4300	6503	SO:0001819	synonymous_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45362452C>T	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1605C>T	20.37:g.45362452C>T							p.I535I	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			5	1855	+		Myeloproliferative disorder(115;0.0122)	535					A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	c.1605C>T	CCDS13402.1																																																																																				0.592	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			30	45	0	0	0	1	0	30	45				
EFCC1	79825	broad.mit.edu	37	3	128757724	128757724	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:128757724T>G	ENST00000480450.1	+	7	1641	c.1641T>G	c.(1639-1641)gcT>gcG	p.A547A	EFCC1_ENST00000436022.2_Silent_p.A110A			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	547							calcium ion binding (GO:0005509)										CGCTGGACGCTTTCAGGGACC	0.542																																						ENST00000436022.2																			0											c.(328-330)gcT>gcG		EF-hand and coiled-coil domain containing 1							81.0	86.0	84.0					3																	128757724		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128757724T>G	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1641T>G	3.37:g.128757724T>G						EFCC1_ENST00000480450.1_Silent_p.A547A	p.A110A	NM_024768.2	NP_079044.2					7	1641	+								A8MYE2	Silent	SNP	ENST00000480450.1	37	c.330T>G	CCDS3054.2																																																																																				0.542	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		12	111	0	0	0	1	0	12	111				
CCNT1	904	broad.mit.edu	37	12	49089871	49089871	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49089871T>G	ENST00000261900.3	-	7	839	c.617A>C	c.(616-618)aAg>aCg	p.K206T		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	206					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ATTGGACCACTTGCAAGCCAG	0.502																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(616-618)aAg>aCg		cyclin T1							91.0	70.0	77.0					12																	49089871		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49089871T>G	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.617A>C	12.37:g.49089871T>G	ENSP00000261900:p.Lys206Thr						p.K206T	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			7	839	-			206					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.617A>C	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	t	25.3	4.619043	0.87460	.	.	ENSG00000129315	ENST00000261900	T	0.45276	0.9	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.87682	2.9	0.80722	D	1	P	0.42620	0.785	P	0.47299	0.543	T	0.67245	-0.5719	10	0.87932	D	0	-15.3888	15.0997	0.72266	0.0:0.0:0.0:1.0	.	206	O60563	CCNT1_HUMAN	T	206	ENSP00000261900:K206T	ENSP00000261900:K206T	K	-	2	0	CCNT1	47376138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.212000	0.71576	0.459000	0.35465	AAG		0.502	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		17	42	0	0	0	1	0	17	42				
CHRM2	1129	broad.mit.edu	37	7	136700079	136700079	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:136700079C>T	ENST00000445907.2	+	3	995	c.467C>T	c.(466-468)gCt>gTt	p.A156V	CHRM2_ENST00000453373.1_Missense_Mutation_p.A156V|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A156V|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A156V|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A156V|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A156V|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	156					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ATCCTCTGGGCTCCAGCCATT	0.498																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(466-468)gCt>gTt		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						75.0	76.0	76.0					7																	136700079		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700079C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.467C>T	7.37:g.136700079C>T	ENSP00000399745:p.Ala156Val					CHRM2_ENST00000401861.1_Missense_Mutation_p.A156V|CHRM2_ENST00000397608.3_Missense_Mutation_p.A156V|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A156V|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A156V|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A156V|AC009264.1_ENST00000425981.2_RNA	p.A156V	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	995	+			156					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.467C>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709119	0.89018	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	L	0.47078	1.49	0.80722	D	1	D	0.54397	0.966	P	0.62014	0.897	T	0.71052	-0.4704	10	0.15066	T	0.55	-2.2428	19.5581	0.95361	0.0:1.0:0.0:0.0	.	156	P08172	ACM2_HUMAN	V	156	ENSP00000399745:A156V;ENSP00000415386:A156V;ENSP00000319984:A156V;ENSP00000380733:A156V;ENSP00000384937:A156V;ENSP00000384401:A156V	ENSP00000319984:A156V	A	+	2	0	CHRM2	136350619	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	5.954000	0.70298	2.614000	0.88457	0.655000	0.94253	GCT		0.498	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			6	97	0	0	0	1	0	6	97				
RDX	5962	broad.mit.edu	37	11	110134819	110134819	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:110134819T>C	ENST00000343115.4	-	5	652	c.333A>G	c.(331-333)ttA>ttG	p.L111L	RDX_ENST00000405097.1_Silent_p.L111L|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Silent_p.L111L|RDX_ENST00000544551.1_Intron|RDX_ENST00000530301.1_Silent_p.L79L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	111	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCTCATCATTTAAGATGGCTT	0.373																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(331-333)ttA>ttG		radixin							73.0	73.0	73.0					11																	110134819		2201	4298	6499	SO:0001819	synonymous_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110134819T>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.333A>G	11.37:g.110134819T>C						RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Silent_p.L79L|RDX_ENST00000405097.1_Silent_p.L111L|RDX_ENST00000528498.1_Silent_p.L111L|RDX_ENST00000544551.1_Intron	p.L111L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	5	652	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	111			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	ENST00000343115.4	37	c.333A>G	CCDS8343.1																																																																																				0.373	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		22	25	0	0	0	1	0	22	25				
CSMD3	114788	broad.mit.edu	37	8	113316973	113316973	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113316973C>A	ENST00000297405.5	-	52	8487	c.8243G>T	c.(8242-8244)aGa>aTa	p.R2748I	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2678I|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2708I|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2748	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTTCATTTCTCCAACTCCA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(8242-8244)aGa>aTa		CUB and Sushi multiple domains 3							135.0	120.0	125.0					8																	113316973		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113316973C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8243G>T	8.37:g.113316973C>A	ENSP00000297405:p.Arg2748Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.R2708I|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2678I	p.R2748I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			52	8487	-			2748			Sushi 16.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8243G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159035	0.78226	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.04	5.04	0.67666	Complement control module (2);Sushi/SCR/CCP (3);	0.071147	0.53938	D	0.000044	T	0.42017	0.1184	L	0.40543	1.245	0.80722	D	1	D;P	0.61697	0.99;0.584	D;B	0.65773	0.938;0.212	T	0.09729	-1.0661	10	0.35671	T	0.21	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	2748;2708	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	I	2708;2748;2018;2678	ENSP00000345799:R2708I;ENSP00000297405:R2748I;ENSP00000341558:R2018I;ENSP00000343124:R2678I	ENSP00000297405:R2748I	R	-	2	0	CSMD3	113386149	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.200000	0.51051	2.455000	0.83008	0.655000	0.94253	AGA		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	25	1	0	1.01871e-10	1	1.25646e-10	14	25				
STK31	56164	broad.mit.edu	37	7	23871984	23871984	+	Nonstop_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23871984A>C	ENST00000355870.3	+	24	3178	c.3059A>C	c.(3058-3060)tAa>tCa	p.*1020S	STK31_ENST00000428484.1_Nonstop_Mutation_p.*997S|STK31_ENST00000433467.2_Nonstop_Mutation_p.*997S|STK31_ENST00000354639.3_Nonstop_Mutation_p.*997S|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	0						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTGATTGTTAAATTATTATT	0.318																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2989-2991)tAa>tCa		serine/threonine kinase 31							47.0	52.0	50.0					7																	23871984		2203	4298	6501	SO:0001578	stop_lost	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871984A>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.3059A>C	7.37:g.23871984A>C	ENSP00000348132:p.*1020Serext*29					STK31_ENST00000428484.1_Nonstop_Mutation_p.*997S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Nonstop_Mutation_p.*997S|STK31_ENST00000355870.3_Nonstop_Mutation_p.*1020S	p.*997S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			24	3454	+			0			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonstop_Mutation	SNP	ENST00000355870.3	37	c.2990A>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	9.024	0.985557	0.18889	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	4.51	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2097	0.20621	0.7871:0.0:0.2129:0.0	.	.	.	.	S	1020;997;997;997	.	.	X	+	2	2	STK31	23838509	0.539000	0.26402	0.001000	0.08648	0.442000	0.32017	1.569000	0.36428	0.210000	0.20664	0.260000	0.18958	TAA		0.318	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		13	30	0	0	0	1	0	13	30				
CLNK	116449	broad.mit.edu	37	4	10515153	10515153	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:10515153C>T	ENST00000226951.6	-	16	1080	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	CLNK_ENST00000515667.1_Missense_Mutation_p.E19K	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	281					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGTATATTTTCGTGAGGGCTG	0.473																																					GBM(87;402 1286 6949 13902 35851)	ENST00000226951.6																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(841-843)Gaa>Aaa		cytokine-dependent hematopoietic cell linker							81.0	77.0	78.0					4																	10515153		1946	4153	6099	SO:0001583	missense	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10515153C>T	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.841G>A	4.37:g.10515153C>T	ENSP00000226951:p.Glu281Lys					CLNK_ENST00000515667.1_Missense_Mutation_p.E19K	p.E281K	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN			16	1080	-			281					Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	c.841G>A	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	C	6.390	0.440131	0.12104	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	T;T	0.62639	0.01;0.01	4.22	1.48	0.22813	.	1.386890	0.04579	N	0.394576	T	0.42562	0.1208	L	0.27053	0.805	0.09310	N	1	B	0.30033	0.266	B	0.13407	0.009	T	0.15636	-1.0430	10	0.07990	T	0.79	-7.0307	6.7343	0.23401	0.0:0.6952:0.0:0.3048	.	281	Q7Z7G1	CLNK_HUMAN	K	281;19;245	ENSP00000226951:E281K;ENSP00000427256:E19K	ENSP00000226951:E281K	E	-	1	0	CLNK	10124251	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.153000	0.16323	0.289000	0.22422	0.591000	0.81541	GAA		0.473	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		4	12	0	0	0	1	0	4	12				
MIR518C	574477	broad.mit.edu	37	19	54211994	54211994	+	RNA	SNP	A	A	G	rs374276103		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54211994A>G	ENST00000384822.1	+	0	6				MIR526A1_ENST00000384897.1_RNA|MIR524_ENST00000385242.1_RNA|MIR520C_ENST00000385005.1_RNA	NR_030199.1				microRNA 518c																		CTGGAGCGAGAAGATCTCATG	0.408																																						ENST00000384822.1																			0																				87.0	79.0	81.0					19																	54211994		1568	3582	5150			0							g.chr19:54211994A>G			19q13.42	2011-09-12		2008-12-18	ENSG00000207553	ENSG00000207553		"""ncRNAs / Micro RNAs"""	32109	non-coding RNA	RNA, micro				MIRN518C			Standard	NR_030199		Approved	hsa-mir-518c	uc021vac.1				19.37:g.54211994A>G								NR_030199.1						0	6	+									RNA	SNP	ENST00000384822.1	37																																																																																						0.408	MIR518C-201	KNOWN	basic	miRNA	miRNA		NR_030199		6	72	0	0	0	1	0	6	72				
GJC1	10052	broad.mit.edu	37	17	42882757	42882757	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42882757C>A	ENST00000426548.1	-	3	698	c.429G>T	c.(427-429)gaG>gaT	p.E143D	GJC1_ENST00000590758.1_Missense_Mutation_p.E143D|GJC1_ENST00000330514.4_Missense_Mutation_p.E143D|GJC1_ENST00000592524.1_Missense_Mutation_p.E143D	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	143					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTAACTCCATCTCTGGATACA	0.498																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(427-429)gaG>gaT		gap junction protein, gamma 1, 45kDa							167.0	153.0	158.0					17																	42882757		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882757C>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.429G>T	17.37:g.42882757C>A	ENSP00000411528:p.Glu143Asp					GJC1_ENST00000592524.1_Missense_Mutation_p.E143D|GJC1_ENST00000590758.1_Missense_Mutation_p.E143D|GJC1_ENST00000330514.4_Missense_Mutation_p.E143D	p.E143D	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	698	-		Prostate(33;0.0959)	143					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.429G>T	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361049	0.24684	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97994	-4.65;-4.65	5.27	-1.23	0.09465	.	0.757625	0.12853	N	0.433786	D	0.94775	0.8313	L	0.46741	1.465	0.39762	D	0.972038	B	0.15719	0.014	B	0.18561	0.022	D	0.87148	0.2207	10	0.37606	T	0.19	.	10.6246	0.45500	0.0:0.5976:0.0:0.4024	.	143	P36383	CXG1_HUMAN	D	143	ENSP00000411528:E143D;ENSP00000333193:E143D	ENSP00000333193:E143D	E	-	3	2	GJC1	40238283	0.948000	0.32251	0.990000	0.47175	0.903000	0.53119	0.087000	0.14958	-0.190000	0.10465	-0.379000	0.06801	GAG		0.498	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		10	137	1	0	0.000442599	1	0.00046913	10	137				
MPG	4350	broad.mit.edu	37	16	129447	129447	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:129447G>T	ENST00000219431.4	+	3	294	c.63G>T	c.(61-63)aaG>aaT	p.K21N	MPG_ENST00000397817.1_Missense_Mutation_p.K4N|MPG_ENST00000475280.1_3'UTR	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	21					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGGGGCAAAAGAAGCAGCGAC	0.562								Base excision repair (BER), DNA glycosylases																														ENST00000219431.4																			0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(61-63)aaG>aaT	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							60.0	67.0	65.0					16																	129447		2203	4300	6503	SO:0001583	missense	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:129447G>T		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.63G>T	16.37:g.129447G>T	ENSP00000219431:p.Lys21Asn					MPG_ENST00000397817.1_Missense_Mutation_p.K4N|MPG_ENST00000475280.1_3'UTR	p.K21N	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN			3	294	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	21					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	c.63G>T	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	g	12.59	1.984207	0.35036	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.10960	2.82;3.0;2.99;2.9	3.71	0.106	0.14540	.	0.581714	0.17423	N	0.174760	T	0.15739	0.0379	L	0.34521	1.04	0.24477	N	0.994364	D;P;D	0.71674	0.998;0.455;0.998	D;B;D	0.76071	0.987;0.247;0.987	T	0.13710	-1.0499	10	0.30854	T	0.27	-0.2516	5.9175	0.19063	0.5485:0.0:0.4515:0.0	.	4;16;21	A2IDA3;Q5J9I4;P29372	.;.;3MG_HUMAN	N	4;4;16;21	ENSP00000388097:K4N;ENSP00000380918:K4N;ENSP00000348809:K16N;ENSP00000219431:K21N	ENSP00000219431:K21N	K	+	3	2	MPG	69447	0.960000	0.32886	0.992000	0.48379	0.144000	0.21451	0.154000	0.16343	-0.004000	0.14419	-0.349000	0.07799	AAG		0.562	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			20	57	1	0	1.2644e-06	1	1.4261e-06	20	57				
GABRB2	2561	broad.mit.edu	37	5	160721219	160721219	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160721219G>A	ENST00000393959.1	-	10	1407	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	GABRB2_ENST00000274547.2_Missense_Mutation_p.R470C|GABRB2_ENST00000517547.1_Missense_Mutation_p.R272C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R369C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R432C|GABRB2_ENST00000353437.6_Missense_Mutation_p.R432C			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	470					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.R432C(2)|p.R470C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGGAGGCGCGTCTCCTCAGG	0.507																																						ENST00000274547.2																			4	Substitution - Missense(4)	p.R432C(2)|p.R470C(2)	endometrium(2)|central_nervous_system(2)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1408-1410)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						123.0	111.0	115.0					5																	160721219		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721219G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1408C>T	5.37:g.160721219G>A	ENSP00000377531:p.Arg470Cys					GABRB2_ENST00000517547.1_Missense_Mutation_p.R272C|GABRB2_ENST00000353437.6_Missense_Mutation_p.R432C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R432C|GABRB2_ENST00000393959.1_Missense_Mutation_p.R470C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R369C	p.R470C	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1625	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	470					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1408C>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192247	0.94960	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.185384	0.64402	D	0.000012	D	0.91573	0.7338	L	0.42581	1.335	0.80722	D	1	D;D;D;B	0.89917	1.0;0.998;1.0;0.199	D;D;D;B	0.79784	0.993;0.93;0.982;0.048	D	0.91719	0.5387	10	0.66056	D	0.02	.	19.9251	0.97100	0.0:0.0:1.0:0.0	.	272;369;470;432	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	C	470;470;432;432;369;272	ENSP00000377531:R470C;ENSP00000274547:R470C;ENSP00000274546:R432C;ENSP00000429320:R432C;ENSP00000430532:R369C;ENSP00000429750:R272C	ENSP00000274547:R470C	R	-	1	0	GABRB2	160653797	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.738000	0.98835	2.715000	0.92844	0.650000	0.86243	CGC		0.507	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			27	52	0	0	0	1	0	27	52				
RBM43	375287	broad.mit.edu	37	2	152107545	152107545	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152107545T>G	ENST00000331426.5	-	4	1100	c.949A>C	c.(949-951)Agt>Cgt	p.S317R		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	317							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TATCTCGAACTTAATTGTTCA	0.343																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(949-951)Agt>Cgt		RNA binding motif protein 43							159.0	155.0	157.0					2																	152107545		2203	4300	6503	SO:0001583	missense	375287						nucleotide binding|RNA binding	g.chr2:152107545T>G	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.949A>C	2.37:g.152107545T>G	ENSP00000331211:p.Ser317Arg						p.S317R	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	1100	-			317					B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	c.949A>C	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	T	8.340	0.828526	0.16749	.	.	ENSG00000184898	ENST00000331426	T	0.44482	0.92	5.48	-7.63	0.01290	.	1.841870	0.02144	N	0.057440	T	0.21347	0.0514	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.11641	-1.0579	10	0.16420	T	0.52	5.4461	1.0709	0.01621	0.2478:0.2089:0.3541:0.1892	.	317	Q6ZSC3	RBM43_HUMAN	R	317	ENSP00000331211:S317R	ENSP00000331211:S317R	S	-	1	0	RBM43	151815791	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.599000	0.05700	-1.336000	0.02238	-0.250000	0.11733	AGT		0.343	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		13	29	0	0	0	1	0	13	29				
KCTD19	146212	broad.mit.edu	37	16	67335823	67335823	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67335823T>C	ENST00000304372.5	-	5	701	c.646A>G	c.(646-648)Aat>Gat	p.N216D	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	216					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGAAGAAAATTCACTTGAAAA	0.403																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(646-648)Aat>Gat		potassium channel tetramerization domain containing 19							77.0	76.0	77.0					16																	67335823		1829	4090	5919	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67335823T>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.646A>G	16.37:g.67335823T>C	ENSP00000305702:p.Asn216Asp					KCTD19_ENST00000562860.1_5'UTR	p.N216D	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	5	701	-		Ovarian(137;0.192)	216					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.646A>G	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419288	0.83559	.	.	ENSG00000168676	ENST00000304372	T	0.61742	0.08	6.07	6.07	0.98685	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	N	0.24115	0.695	0.36759	D	0.88318	D	0.69078	0.997	D	0.75020	0.985	T	0.72184	-0.4367	10	0.72032	D	0.01	-16.5261	14.002	0.64439	0.0:0.0:0.0:1.0	.	216	Q17RG1	KCD19_HUMAN	D	216	ENSP00000305702:N216D	ENSP00000305702:N216D	N	-	1	0	KCTD19	65893324	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.870000	0.63035	2.326000	0.78906	0.533000	0.62120	AAT		0.403	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		26	76	0	0	0	1	0	26	76				
PPARGC1A	10891	broad.mit.edu	37	4	23815615	23815615	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:23815615T>C	ENST00000264867.2	-	8	1610	c.1491A>G	c.(1489-1491)ctA>ctG	p.L497L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	497	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TAAACATAGGTAGTTTGGAGA	0.453																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1489-1491)ctA>ctG		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							133.0	127.0	129.0					4																	23815615		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815615T>C	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1491A>G	4.37:g.23815615T>C						PPARGC1A_ENST00000509702.1_5'UTR	p.L497L	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1610	-		Breast(46;0.0503)	497					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1491A>G	CCDS3429.1																																																																																				0.453	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		34	56	0	0	0	1	0	34	56				
PCK1	5105	broad.mit.edu	37	20	56137841	56137841	+	Missense_Mutation	SNP	G	G	A	rs368269624		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56137841G>A	ENST00000319441.4	+	4	660	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PCK1_ENST00000535860.1_Missense_Mutation_p.V34M|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	166					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTCACCCTACGTGGTGGCCAG	0.617																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(496-498)Gtg>Atg		phosphoenolpyruvate carboxykinase 1 (soluble)		G	MET/VAL	0,4406		0,0,2203	72.0	61.0	65.0		496	5.1	1.0	20		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCK1	NM_002591.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	166/623	56137841	1,13005	2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137841G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.496G>A	20.37:g.56137841G>A	ENSP00000319814:p.Val166Met					PCK1_ENST00000535860.1_Missense_Mutation_p.V34M|PCK1_ENST00000543666.1_Intron	p.V166M	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		4	660	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		166					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.496G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524913	0.85600	0.0	1.16E-4	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.10860	2.83;2.83	5.13	5.13	0.70059	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73953	-0.3820	10	0.87932	D	0	-43.4513	18.9476	0.92627	0.0:0.0:1.0:0.0	.	166	P35558	PCKGC_HUMAN	M	166;34	ENSP00000319814:V166M;ENSP00000444342:V34M	ENSP00000319814:V166M	V	+	1	0	PCK1	55571247	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.015000	0.93640	2.543000	0.85770	0.655000	0.94253	GTG		0.617	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			13	44	0	0	0	1	0	13	44				
C4orf50	389197	broad.mit.edu	37	4	5961108	5961108	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5961108T>G	ENST00000324058.5	-	7	914	c.825A>C	c.(823-825)gaA>gaC	p.E275D	C4orf50_ENST00000531445.1_Missense_Mutation_p.E749D			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	275										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCTATTACATTTCTAACTCCA	0.448																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(2245-2247)gaA>gaC		chromosome 4 open reading frame 50							105.0	104.0	104.0					4																	5961108		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5961108T>G	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.825A>C	4.37:g.5961108T>G	ENSP00000317287:p.Glu275Asp					C4orf50_ENST00000324058.5_Missense_Mutation_p.E275D	p.E749D			Q6ZRC1	CD050_HUMAN			7	2293	-			275						Missense_Mutation	SNP	ENST00000324058.5	37	c.2247A>C		.	.	.	.	.	.	.	.	.	.	T	5.358	0.251406	0.10130	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.27890	1.64;1.77	4.5	-2.82	0.05787	.	4.987010	0.01034	U	0.004199	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B	0.31655	0.334	B	0.22386	0.039	T	0.18147	-1.0346	10	0.87932	D	0	.	5.1091	0.14800	0.0:0.3662:0.1608:0.473	.	275	Q6ZRC1	CD050_HUMAN	D	749;275	ENSP00000437121:E749D;ENSP00000317287:E275D	ENSP00000317287:E275D	E	-	3	2	C4orf50	6012009	0.003000	0.15002	0.000000	0.03702	0.117000	0.20001	0.771000	0.26633	-0.680000	0.05211	-0.264000	0.10439	GAA		0.448	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		38	61	0	0	0	1	0	38	61				
GPCPD1	56261	broad.mit.edu	37	20	5560680	5560680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5560680C>A	ENST00000379019.4	-	7	659	c.447G>T	c.(445-447)aaG>aaT	p.K149N	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	149					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTAATTTTTTCTTGGTTATTG	0.338																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(445-447)aaG>aaT		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							54.0	56.0	56.0					20																	5560680		2203	4297	6500	SO:0001583	missense	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5560680C>A		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.447G>T	20.37:g.5560680C>A	ENSP00000368305:p.Lys149Asn					GPCPD1_ENST00000481038.1_5'UTR	p.K149N	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			7	659	-			149					D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	c.447G>T	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169879	0.78452	.	.	ENSG00000125772	ENST00000379019	T	0.52526	0.66	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.52646	-0.8548	10	0.41790	T	0.15	-21.4812	12.8123	0.57647	0.0:0.925:0.0:0.075	.	149	Q9NPB8	GPCP1_HUMAN	N	149	ENSP00000368305:K149N	ENSP00000368305:K149N	K	-	3	2	GPCPD1	5508680	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.960000	0.56752	2.694000	0.91930	0.585000	0.79938	AAG		0.338	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		13	21	1	0	2.27111e-07	1	2.60515e-07	13	21				
DNAAF1	123872	broad.mit.edu	37	16	84193391	84193391	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:84193391C>T	ENST00000378553.5	+	6	977	c.853C>T	c.(853-855)Cca>Tca	p.P285S	DNAAF1_ENST00000334315.5_Missense_Mutation_p.P285S|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	285	LRRCT.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|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)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACCAGTGTTTCCAAAGGACAG	0.353																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(853-855)Cca>Tca		dynein, axonemal, assembly factor 1							108.0	96.0	100.0					16																	84193391		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84193391C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.853C>T	16.37:g.84193391C>T	ENSP00000367815:p.Pro285Ser					DNAAF1_ENST00000334315.5_Missense_Mutation_p.P285S|DNAAF1_ENST00000563818.1_3'UTR	p.P285S	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			6	977	+			285			LRRCT.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.853C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958062	0.73902	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.22134	1.97;1.97	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	M	0.78801	2.425	0.49582	D	0.999805	D;P	0.89917	1.0;0.705	D;P	0.91635	0.999;0.692	T	0.54925	-0.8220	10	0.66056	D	0.02	-11.7255	18.4557	0.90720	0.0:1.0:0.0:0.0	.	33;285	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	S	285	ENSP00000334593:P285S;ENSP00000367815:P285S	ENSP00000334593:P285S	P	+	1	0	DNAAF1	82750892	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	5.257000	0.65473	2.352000	0.79861	0.650000	0.86243	CCA		0.353	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		18	33	0	0	0	1	0	18	33				
CEP95	90799	broad.mit.edu	37	17	62518818	62518818	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62518818A>C	ENST00000556440.2	+	8	1225		c.e8-1		CEP95_ENST00000553412.1_Splice_Site	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa							centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TTGTCTTACTAGCGGAAACCC	0.388																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.e8-1		centrosomal protein 95kDa							65.0	63.0	64.0					17																	62518818		1852	4100	5952	SO:0001630	splice_region_variant	90799					centrosome|spindle pole	protein binding	g.chr17:62518818A>C	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.716-1A>C	17.37:g.62518818A>C						CEP95_ENST00000553412.1_Splice_Site		NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			8	1225	+								B4DMD2|Q96M81	Splice_Site	SNP	ENST00000556440.2	37		CCDS45763.1	.	.	.	.	.	.	.	.	.	.	A	9.292	1.050834	0.19827	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	.	.	.	5.62	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.118	0.36769	0.6584:0.0:0.0:0.3416	.	.	.	.	.	-1	.	.	.	+	.	.	CEP95	59949280	0.259000	0.24043	0.011000	0.14972	0.031000	0.12232	2.375000	0.44283	0.942000	0.37525	0.482000	0.46254	.		0.388	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	Intron	20	33	0	0	0	1	0	20	33				
MTMR2	8898	broad.mit.edu	37	11	95578263	95578263	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:95578263C>T	ENST00000346299.5	-	11	1580	c.1240G>A	c.(1240-1242)Gta>Ata	p.V414I	MTMR2_ENST00000393223.3_Missense_Mutation_p.V342I|MTMR2_ENST00000409459.1_Missense_Mutation_p.V342I|MTMR2_ENST00000352297.7_Missense_Mutation_p.V342I	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	414	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGCACTACCACAGACGTC	0.448																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(1024-1026)Gta>Ata		myotubularin related protein 2							149.0	129.0	136.0					11																	95578263		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95578263C>T	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1240G>A	11.37:g.95578263C>T	ENSP00000345752:p.Val414Ile					MTMR2_ENST00000352297.7_Missense_Mutation_p.V342I|MTMR2_ENST00000409459.1_Missense_Mutation_p.V342I|MTMR2_ENST00000346299.5_Missense_Mutation_p.V414I	p.V342I	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			13	1686	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	414			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.1024G>A	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805948	0.31961	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	5.9	4.99	0.66335	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	L	0.35288	1.05	0.80722	D	1	B;B	0.32781	0.384;0.384	B;B	0.35899	0.213;0.178	D	0.86058	0.1530	10	0.52906	T	0.07	.	15.3519	0.74396	0.0:0.9333:0.0:0.0667	.	414;414	A8K5G2;Q13614	.;MTMR2_HUMAN	I	414;342;342;342;342	ENSP00000345752:V414I;ENSP00000376915:V342I;ENSP00000386882:V342I;ENSP00000343737:V342I;ENSP00000396020:V342I	ENSP00000345752:V414I	V	-	1	0	MTMR2	95217911	1.000000	0.71417	0.905000	0.35620	0.029000	0.11900	3.257000	0.51500	1.513000	0.48852	-0.222000	0.12452	GTA		0.448	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		21	29	0	0	0	1	0	21	29				
SRD5A3	79644	broad.mit.edu	37	4	56233805	56233805	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56233805C>A	ENST00000264228.4	+	4	841	c.613C>A	c.(613-615)Ctt>Att	p.L205I	SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3_ENST00000514398.1_Intron|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596289.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	205					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GTTCCATATTCTTGGGATGAT	0.408																																						ENST00000264228.4																			0				cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(613-615)Ctt>Att		steroid 5 alpha-reductase 3							198.0	170.0	179.0					4																	56233805		2203	4300	6503	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56233805C>A	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.613C>A	4.37:g.56233805C>A	ENSP00000264228:p.Leu205Ile					SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3_ENST00000514398.1_Intron|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA	p.L205I	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		4	841	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		205					Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.613C>A	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483227	0.44147	.	.	ENSG00000128039	ENST00000264228	T	0.29142	1.58	6.07	5.23	0.72850	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.296851	0.34223	N	0.004155	T	0.21881	0.0527	N	0.17723	0.515	0.45307	D	0.998307	P	0.34724	0.465	B	0.38225	0.268	T	0.03587	-1.1022	10	0.09843	T	0.71	-18.4008	14.7117	0.69238	0.0:0.9289:0.0:0.0711	.	205	Q9H8P0	PORED_HUMAN	I	205	ENSP00000264228:L205I	ENSP00000264228:L205I	L	+	1	0	SRD5A3	55928562	0.998000	0.40836	0.995000	0.50966	0.152000	0.21847	0.863000	0.27913	1.550000	0.49438	0.655000	0.94253	CTT		0.408	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		23	42	1	0	2.21704e-12	1	2.79328e-12	23	42				
CENPK	64105	broad.mit.edu	37	5	64814413	64814413	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:64814413T>G	ENST00000396679.1	-	11	913	c.699A>C	c.(697-699)aaA>aaC	p.K233N	CENPK_ENST00000242872.3_Missense_Mutation_p.K233N|CENPK_ENST00000510693.1_Missense_Mutation_p.K170N|CENPK_ENST00000508421.1_Missense_Mutation_p.K203N|CENPK_ENST00000514814.1_Missense_Mutation_p.K233N|CENPK_ENST00000506282.2_5'UTR	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	233					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATCACTAATTTTGACATATG	0.343																																						ENST00000396679.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(697-699)aaA>aaC		centromere protein K							91.0	88.0	89.0					5																	64814413		2203	4300	6503	SO:0001583	missense	64105				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr5:64814413T>G	BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.699A>C	5.37:g.64814413T>G	ENSP00000379911:p.Lys233Asn					CENPK_ENST00000514814.1_Missense_Mutation_p.K233N|CENPK_ENST00000510693.1_Missense_Mutation_p.K170N|CENPK_ENST00000508421.1_Missense_Mutation_p.K203N|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Missense_Mutation_p.K233N	p.K233N	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN		Lung(70;0.00466)	11	913	-		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	233					Q9H4L0	Missense_Mutation	SNP	ENST00000396679.1	37	c.699A>C	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490741	0.64074	.	.	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693	.	.	.	5.77	5.77	0.91146	.	0.334926	0.34291	N	0.004082	T	0.53867	0.1823	L	0.54323	1.7	0.29893	N	0.82502	P	0.50369	0.934	P	0.52856	0.711	T	0.56577	-0.7956	9	0.36615	T	0.2	-20.4602	12.0114	0.53289	0.0:0.0:0.1441:0.8559	.	233	Q9BS16	CENPK_HUMAN	N	233;233;233;203;170	.	ENSP00000242872:K233N	K	-	3	2	CENPK	64850169	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.794000	0.26958	2.197000	0.70478	0.455000	0.32223	AAA		0.343	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145		17	34	0	0	0	1	0	17	34				
ADAM18	8749	broad.mit.edu	37	8	39537563	39537563	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:39537563C>A	ENST00000265707.5	+	16	1684	c.1639C>A	c.(1639-1641)Ctc>Atc	p.L547I	ADAM18_ENST00000379866.1_Missense_Mutation_p.L523I|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	547	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAGGGATGTTCTCTGTGGAAA	0.338																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1639-1641)Ctc>Atc		ADAM metallopeptidase domain 18							83.0	78.0	80.0					8																	39537563		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39537563C>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1639C>A	8.37:g.39537563C>A	ENSP00000265707:p.Leu547Ile					ADAM18_ENST00000379866.1_Missense_Mutation_p.L523I|ADAM18_ENST00000541111.1_5'UTR	p.L547I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		16	1684	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	547			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1639C>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469669	0.63625	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.22945	1.93;1.93	4.33	4.33	0.51752	ADAM, cysteine-rich (2);	0.000000	0.37437	N	0.002092	T	0.34221	0.0890	M	0.72479	2.2	0.80722	D	1	P;P	0.38048	0.562;0.616	B;P	0.44422	0.32;0.449	T	0.03413	-1.1039	10	0.29301	T	0.29	.	12.6441	0.56725	0.0:1.0:0.0:0.0	.	523;547	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	I	547;523;479	ENSP00000265707:L547I;ENSP00000369195:L523I	ENSP00000265707:L547I	L	+	1	0	ADAM18	39656720	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	0.977000	0.29475	2.711000	0.92665	0.655000	0.94253	CTC		0.338	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		9	13	1	0	1.12685e-05	1	1.24509e-05	9	13				
ABCC2	1244	broad.mit.edu	37	10	101556891	101556891	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101556891G>A	ENST00000370449.4	+	7	783	c.670G>A	c.(670-672)Gag>Aag	p.E224K	ABCC2_ENST00000370434.1_Missense_Mutation_p.E224K	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	224					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCTGACACTCGAGGATGTCTG	0.517																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(670-672)Gag>Aag		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						70.0	68.0	69.0					10																	101556891		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101556891G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.670G>A	10.37:g.101556891G>A	ENSP00000359478:p.Glu224Lys					ABCC2_ENST00000370434.1_Missense_Mutation_p.E224K	p.E224K	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	7	783	+		Colorectal(252;0.234)	224					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.670G>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	2.142	-0.396515	0.04899	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	D;D	0.94330	-2.08;-3.4	5.62	3.68	0.42216	.	0.243858	0.47455	N	0.000229	D	0.86364	0.5915	L	0.45285	1.41	0.58432	D	0.999999	P	0.35656	0.514	B	0.23419	0.046	T	0.81037	-0.1114	10	0.09338	T	0.73	-2.6865	11.5634	0.50792	0.1523:0.0:0.8477:0.0	.	224	Q92887	MRP2_HUMAN	K	224	ENSP00000359478:E224K;ENSP00000359463:E224K	ENSP00000359463:E224K	E	+	1	0	ABCC2	101546881	1.000000	0.71417	0.085000	0.20634	0.016000	0.09150	3.260000	0.51523	0.652000	0.30806	-0.367000	0.07326	GAG		0.517	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		18	37	0	0	0	1	0	18	37				
RORB	6096	broad.mit.edu	37	9	77275552	77275552	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:77275552C>A	ENST00000396204.2	+	5	690	c.690C>A	c.(688-690)atC>atA	p.I230I	RORB_ENST00000376896.3_Silent_p.I219I			Q92753	RORB_HUMAN	RAR-related orphan receptor B	230	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	CACAGAACATCATTAAGTCCC	0.378																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(655-657)atC>atA		RAR-related orphan receptor B							139.0	138.0	138.0					9																	77275552		2203	4300	6503	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77275552C>A	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.690C>A	9.37:g.77275552C>A						RORB_ENST00000396204.2_Silent_p.I230I	p.I219I	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			5	1269	+			230			Hinge (Potential).		Q8WX73	Silent	SNP	ENST00000396204.2	37	c.657C>A																																																																																					0.378	RORB-201	KNOWN	basic	protein_coding	protein_coding				39	67	1	0	1.04594e-18	1	1.41924e-18	39	67				
LONRF3	79836	broad.mit.edu	37	X	118112414	118112414	+	Silent	SNP	G	G	A	rs140224937	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118112414G>A	ENST00000371628.3	+	2	955	c.924G>A	c.(922-924)ccG>ccA	p.P308P	LONRF3_ENST00000304778.7_Silent_p.P308P|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_De_novo_Start_InFrame	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	308							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AGCTCCGCCCGATGGGTTTTA	0.498													G|||	9	0.00238411	0.0023	0.0	3775	,	,		14159	0.0		0.0	False		,,,				2504	0.0061					ENST00000422289.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36								LON peptidase N-terminal domain and ring finger 3		G	,	11,3824		1,8,1,1623,570	117.0	104.0	108.0		924,924	-5.4	0.8	X	dbSNP_134	108	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	LONRF3	NM_001031855.1,NM_024778.4	,	1,8,1,4051,2442	AA,AG,A,GG,G		0.0,0.2868,0.1041	,	308/760,308/719	118112414	11,10552	2203	4300	6503	SO:0001819	synonymous_variant	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118112414G>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.924G>A	X.37:g.118112414G>A						LONRF3_ENST00000304778.7_Silent_p.P308P|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Silent_p.P308P|LONRF3_ENST00000365713.2_Silent_p.P308P				Q496Y0	LONF3_HUMAN			0	721	+								Q5JPN6|Q8NB00|Q9H647	Translation_Start_Site	SNP	ENST00000371628.3	37		CCDS35374.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.146	0.582739	0.13749	0.002868	0.0	ENSG00000175556	ENST00000439603	.	.	.	5.46	-5.45	0.02616	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.40730	D	0.982738	.	.	.	.	.	.	T	0.36456	-0.9747	4	.	.	.	3.2531	0.9306	0.01334	0.3433:0.2844:0.192:0.1803	.	.	.	.	N	115	.	.	D	+	1	0	LONRF3	117996442	0.000000	0.05858	0.786000	0.31890	0.886000	0.51366	-1.453000	0.02383	-1.179000	0.02737	-1.186000	0.01703	GAT		0.498	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		23	54	0	0	0	1	0	23	54				
PTPRZ1	5803	broad.mit.edu	37	7	121651537	121651537	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:121651537T>C	ENST00000393386.2	+	12	2848	c.2437T>C	c.(2437-2439)Tcc>Ccc	p.S813P	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	813					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATCCTGTCTTCCTATGATGG	0.458																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2437-2439)Tcc>Ccc		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							273.0	225.0	241.0					7																	121651537		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651537T>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2437T>C	7.37:g.121651537T>C	ENSP00000377047:p.Ser813Pro					PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	p.S813P	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2848	+			813					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2437T>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314382	0.60414	.	.	ENSG00000106278	ENST00000393386	T	0.52295	0.67	5.86	5.86	0.93980	.	0.170326	0.43110	D	0.000614	T	0.68504	0.3008	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71669	-0.4523	10	0.72032	D	0.01	.	16.2461	0.82446	0.0:0.0:0.0:1.0	.	813	P23471	PTPRZ_HUMAN	P	813	ENSP00000377047:S813P	ENSP00000377047:S813P	S	+	1	0	PTPRZ1	121438773	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.378000	0.59568	2.238000	0.73509	0.528000	0.53228	TCC		0.458	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		71	103	0	0	0	1	0	71	103				
DAG1	1605	broad.mit.edu	37	3	49570157	49570157	+	Missense_Mutation	SNP	A	A	C	rs547451431		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49570157A>C	ENST00000539901.1	+	3	2771	c.2213A>C	c.(2212-2214)gAc>gCc	p.D738A	DAG1_ENST00000545947.1_Missense_Mutation_p.D738A|DAG1_ENST00000515359.2_Missense_Mutation_p.D738A|DAG1_ENST00000541308.1_Missense_Mutation_p.D738A|DAG1_ENST00000308775.2_Missense_Mutation_p.D738A|DAG1_ENST00000538711.1_Missense_Mutation_p.D738A	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	738					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAAGTGCCTGACAGGGACCCT	0.592																																						ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(2212-2214)gAc>gCc		dystroglycan 1 (dystrophin-associated glycoprotein 1)							44.0	45.0	44.0					3																	49570157		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49570157A>C	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2213A>C	3.37:g.49570157A>C	ENSP00000439334:p.Asp738Ala					DAG1_ENST00000308775.2_Missense_Mutation_p.D738A|DAG1_ENST00000515359.2_Missense_Mutation_p.D738A|DAG1_ENST00000538711.1_Missense_Mutation_p.D738A|DAG1_ENST00000539901.1_Missense_Mutation_p.D738A|DAG1_ENST00000541308.1_Missense_Mutation_p.D738A	p.D738A	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	2935	+			738					A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.2213A>C	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	A	8.691	0.907462	0.17833	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.58	4.41	0.53225	.	0.251046	0.45606	N	0.000344	T	0.25680	0.0625	N	0.04724	-0.175	0.24492	N	0.99429	B	0.21225	0.053	B	0.24394	0.053	T	0.17167	-1.0378	9	.	.	.	-16.3379	11.2408	0.48968	0.7093:0.2907:0.0:0.0	.	738	Q14118	DAG1_HUMAN	A	738	ENSP00000440705:D738A;ENSP00000312435:D738A;ENSP00000442600:D738A;ENSP00000440590:D738A;ENSP00000439334:D738A;ENSP00000438421:D738A	.	D	+	2	0	DAG1	49545161	0.835000	0.29415	0.993000	0.49108	0.899000	0.52679	1.694000	0.37752	0.927000	0.37143	0.528000	0.53228	GAC		0.592	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			25	54	0	0	0	1	0	25	54				
MYO1B	4430	broad.mit.edu	37	2	192225402	192225402	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:192225402G>T	ENST00000392318.3	+	8	855	c.608G>T	c.(607-609)aGa>aTa	p.R203I	MYO1B_ENST00000392316.1_Missense_Mutation_p.R203I|MYO1B_ENST00000339514.4_Missense_Mutation_p.R203I|MYO1B_ENST00000304164.4_Missense_Mutation_p.R203I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	203	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGAGGTGAAAGAAACTTCCAT	0.398																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(607-609)aGa>aTa		myosin IB							214.0	212.0	213.0					2																	192225402		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192225402G>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.608G>T	2.37:g.192225402G>T	ENSP00000376132:p.Arg203Ile					MYO1B_ENST00000304164.4_Missense_Mutation_p.R203I|MYO1B_ENST00000339514.4_Missense_Mutation_p.R203I|MYO1B_ENST00000392316.1_Missense_Mutation_p.R203I	p.R203I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		8	855	+			203			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.608G>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821056	0.90873	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.71	4.83	0.62350	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98521	1.0623	10	0.87932	D	0	.	13.4272	0.61032	0.074:0.0:0.926:0.0	.	203;203	O43795;O43795-2	MYO1B_HUMAN;.	I	203	ENSP00000341903:R203I;ENSP00000376132:R203I;ENSP00000306382:R203I;ENSP00000388140:R203I;ENSP00000376130:R203I	ENSP00000306382:R203I	R	+	2	0	MYO1B	191933647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.216000	0.77974	2.681000	0.91329	0.655000	0.94253	AGA		0.398	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		39	94	1	0	1.47244e-24	1	2.06782e-24	39	94				
PRIMPOL	201973	broad.mit.edu	37	4	185593505	185593505	+	Silent	SNP	G	G	A	rs549819226		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185593505G>A	ENST00000314970.6	+	7	1168	c.735G>A	c.(733-735)tcG>tcA	p.S245S	PRIMPOL_ENST00000515774.1_Silent_p.S116S|PRIMPOL_ENST00000512834.1_Silent_p.S245S|PRIMPOL_ENST00000503752.1_Silent_p.S245S	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	245					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										GCTGGACATCGAATTCAAAGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15832	0.0		0.001	False		,,,				2504	0.0					ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(733-735)tcG>tcA									75.0	83.0	80.0					4																	185593505		2203	4300	6503	SO:0001819	synonymous_variant	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185593505G>A	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.735G>A	4.37:g.185593505G>A						CCDC111_ENST00000515774.1_Silent_p.S116S|CCDC111_ENST00000512834.1_Silent_p.S245S|CCDC111_ENST00000503752.1_Silent_p.S245S	p.S245S	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	7	1168	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	245					D3DP55|D6RDM1|Q5HYJ9	Silent	SNP	ENST00000314970.6	37	c.735G>A	CCDS3837.1																																																																																				0.428	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		32	51	0	0	0	1	0	32	51				
TCF12	6938	broad.mit.edu	37	15	57555431	57555431	+	Silent	SNP	C	C	A	rs151235578	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:57555431C>A	ENST00000267811.5	+	17	1936	c.1632C>A	c.(1630-1632)tcC>tcA	p.S544S	TCF12_ENST00000559710.1_Silent_p.S178S|TCF12_ENST00000333725.5_Silent_p.S568S|TCF12_ENST00000343827.3_Silent_p.S374S|TCF12_ENST00000537840.1_Silent_p.S308S|TCF12_ENST00000438423.2_Silent_p.S568S|TCF12_ENST00000452095.2_Silent_p.S564S|TCF12_ENST00000543579.1_Silent_p.S398S|TCF12_ENST00000557843.1_Silent_p.S544S|TCF12_ENST00000559703.1_Silent_p.S202S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	544					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATGATGAATCCTCCCAAAAAG	0.343			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1630-1632)tcC>tcA		transcription factor 12							81.0	79.0	80.0					15																	57555431		2192	4292	6484	SO:0001819	synonymous_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57555431C>A	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1632C>A	15.37:g.57555431C>A						TCF12_ENST00000543579.1_Silent_p.S398S|TCF12_ENST00000333725.5_Silent_p.S568S|TCF12_ENST00000343827.3_Silent_p.S374S|TCF12_ENST00000537840.1_Silent_p.S308S|TCF12_ENST00000559703.1_Silent_p.S202S|TCF12_ENST00000452095.2_Silent_p.S564S|TCF12_ENST00000559710.1_Silent_p.S178S|TCF12_ENST00000438423.2_Silent_p.S568S|TCF12_ENST00000557843.1_Silent_p.S544S	p.S544S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	17	1936	+		Colorectal(260;0.0907)	544					Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	c.1632C>A	CCDS10159.1																																																																																				0.343	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		5	34	1	0	0.014758	1	0.015099	5	34				
CAPSL	133690	broad.mit.edu	37	5	35910012	35910012	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35910012T>G	ENST00000397367.2	-	4	607	c.481A>C	c.(481-483)Aaa>Caa	p.K161Q	CAPSL_ENST00000514524.1_Missense_Mutation_p.K161Q|CAPSL_ENST00000397366.1_Missense_Mutation_p.K161Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	161	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCCAGAAATTTCCTAAATACT	0.368																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(481-483)Aaa>Caa		calcyphosine-like							183.0	183.0	183.0					5																	35910012		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910012T>G	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.481A>C	5.37:g.35910012T>G	ENSP00000380524:p.Lys161Gln					CAPSL_ENST00000397366.1_Missense_Mutation_p.K161Q|CAPSL_ENST00000514524.1_Missense_Mutation_p.K161Q	p.K161Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		4	607	-	all_lung(31;0.000268)		161			EF-hand 4.			Missense_Mutation	SNP	ENST00000397367.2	37	c.481A>C	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154516	0.38021	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.71341	-0.56;-0.56;-0.56;0.54	5.68	5.68	0.88126	EF-hand-like domain (1);	0.291491	0.40385	N	0.001104	T	0.59252	0.2180	L	0.39245	1.2	0.35329	D	0.785483	B	0.14012	0.009	B	0.19666	0.026	T	0.62407	-0.6861	10	0.33940	T	0.23	-29.3596	7.4792	0.27395	0.1285:0.0705:0.0:0.8011	.	161	Q8WWF8	CAPSL_HUMAN	Q	161	ENSP00000380524:K161Q;ENSP00000380523:K161Q;ENSP00000424806:K161Q;ENSP00000421018:K161Q	ENSP00000380523:K161Q	K	-	1	0	CAPSL	35945769	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.097000	0.50251	2.171000	0.68590	0.374000	0.22700	AAA		0.368	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		12	75	0	0	0	1	0	12	75				
SPIRE1	56907	broad.mit.edu	37	18	12512515	12512515	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:12512515G>T	ENST00000409402.4	-	5	1012	c.745C>A	c.(745-747)Caa>Aaa	p.Q249K	SPIRE1_ENST00000410092.3_Missense_Mutation_p.Q249K|SPIRE1_ENST00000383356.2_Missense_Mutation_p.Q90K|SPIRE1_ENST00000309836.5_Missense_Mutation_p.Q52K|SPIRE1_ENST00000453447.2_Missense_Mutation_p.Q129K	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCCATTTCTTGAATCTTCTTA	0.338																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(745-747)Caa>Aaa		spire-type actin nucleation factor 1							107.0	102.0	103.0					18																	12512515		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12512515G>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.745C>A	18.37:g.12512515G>T	ENSP00000387266:p.Gln249Lys					SPIRE1_ENST00000410092.3_Missense_Mutation_p.Q249K|SPIRE1_ENST00000383356.2_Missense_Mutation_p.Q90K|SPIRE1_ENST00000309836.5_Missense_Mutation_p.Q52K|SPIRE1_ENST00000453447.2_Missense_Mutation_p.Q129K	p.Q249K	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			5	1012	-			249		Q -> P (in dbSNP:rs1785296).				Missense_Mutation	SNP	ENST00000409402.4	37	c.745C>A	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844570	0.51164	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356;ENST00000449797	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.5	5.5	0.81552	.	0.114255	0.64402	D	0.000009	T	0.24890	0.0604	N	0.15975	0.35	0.58432	D	0.999994	B;B;P	0.34615	0.059;0.036;0.459	B;B;B	0.37833	0.03;0.037;0.259	T	0.03945	-1.0990	10	0.02654	T	1	-19.1973	19.7532	0.96277	0.0:0.0:1.0:0.0	.	249;52;249	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	K	129;249;249;52;90;129	ENSP00000407050:Q129K;ENSP00000387266:Q249K;ENSP00000387226:Q249K;ENSP00000309661:Q52K;ENSP00000372847:Q90K;ENSP00000401392:Q129K	ENSP00000309661:Q52K	Q	-	1	0	SPIRE1	12502515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.142000	0.64820	2.734000	0.93682	0.650000	0.86243	CAA		0.338	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		9	24	1	0	1.58986e-06	1	1.78832e-06	9	24				
FAT4	79633	broad.mit.edu	37	4	126370224	126370224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126370224C>T	ENST00000394329.3	+	9	8066	c.8053C>T	c.(8053-8055)Cga>Tga	p.R2685*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R983*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2685	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTTTCCCCTCGAAAAATACT	0.343																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(8053-8055)Cga>Tga		FAT atypical cadherin 4							113.0	117.0	116.0					4																	126370224		2203	4299	6502	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370224C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8053C>T	4.37:g.126370224C>T	ENSP00000377862:p.Arg2685*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.R983*	p.R2685*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	8066	+			2685			Cadherin 26.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.8053C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	49	15.444621	0.99834	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.9	5.04	0.67666	.	0.000000	0.29876	U	0.010980	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	10.4875	0.44731	0.1351:0.7966:0.0:0.0683	.	.	.	.	X	2685;983	.	ENSP00000335169:R983X	R	+	1	2	FAT4	126589674	1.000000	0.71417	0.923000	0.36655	0.916000	0.54674	2.469000	0.45110	1.453000	0.47775	0.650000	0.86243	CGA		0.343	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		56	75	0	0	0	1	0	56	75				
LRP5	4041	broad.mit.edu	37	11	68171142	68171142	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68171142A>C	ENST00000294304.7	+	8	1882	c.1776A>C	c.(1774-1776)aaA>aaC	p.K592N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	592	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGGCTCAAAGCTGTGAATG	0.627																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1774-1776)aaA>aaC		low density lipoprotein receptor-related protein 5							87.0	73.0	78.0					11																	68171142		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68171142A>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1776A>C	11.37:g.68171142A>C	ENSP00000294304:p.Lys592Asn						p.K592N	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			8	1882	+			592			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1776A>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855758	0.32791	.	.	ENSG00000162337	ENST00000294304	D	0.94687	-3.49	4.13	-1.46	0.08800	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.51477	U	0.000095	D	0.93854	0.8034	M	0.90814	3.15	0.58432	D	0.999991	B	0.18310	0.027	B	0.18263	0.021	D	0.88199	0.2882	10	0.87932	D	0	.	11.2461	0.48998	0.7435:0.0:0.2565:0.0	.	592	O75197	LRP5_HUMAN	N	592	ENSP00000294304:K592N	ENSP00000294304:K592N	K	+	3	2	LRP5	67927718	1.000000	0.71417	0.960000	0.40013	0.534000	0.34807	0.811000	0.27198	-0.148000	0.11234	-0.248000	0.11899	AAA		0.627	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		7	69	0	0	0	1	0	7	69				
ENOX2	10495	broad.mit.edu	37	X	129768979	129768979	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129768979C>A	ENST00000370927.1	-	10	1506	c.1485G>T	c.(1483-1485)atG>atT	p.M495I	ENOX2_ENST00000394363.1_Missense_Mutation_p.M466I|ENOX2_ENST00000338144.3_Missense_Mutation_p.M495I|ENOX2_ENST00000370935.1_Missense_Mutation_p.M466I			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	495					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GATTTTCCAACATTTTTTCCA	0.368																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1483-1485)atG>atT		ecto-NOX disulfide-thiol exchanger 2							131.0	109.0	117.0					X																	129768979		2202	4299	6501	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129768979C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1485G>T	X.37:g.129768979C>A	ENSP00000359965:p.Met495Ile					ENOX2_ENST00000394363.1_Missense_Mutation_p.M466I|ENOX2_ENST00000370935.1_Missense_Mutation_p.M466I|ENOX2_ENST00000370927.1_Missense_Mutation_p.M495I	p.M495I	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			13	1902	-			495					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1485G>T	CCDS14626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.03|12.03	1.814756|1.814756	0.32053|0.32053	.|.	.|.	ENSG00000165675|ENSG00000165675	ENST00000538435|ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.|T;T	.|0.27557	.|1.66;1.66	5.05|5.05	4.11|4.11	0.48088|0.48088	.|.	.|0.264428	.|0.38272	.|N	.|0.001749	.|T	.|0.17109	.|0.0411	N|N	0.22421|0.22421	0.69|0.69	0.21697|0.21697	N|N	0.999588|0.999588	.|B;B	.|0.17038	.|0.02;0.02	.|B;B	.|0.15484	.|0.013;0.013	.|T	.|0.09840	.|-1.0656	.|9	.|.	.|.	.|.	.|-6.9641	6.3851|6.3851	0.21556|0.21556	0.0:0.8628:0.0:0.1372|0.0:0.8628:0.0:0.1372	.|.	.|495;523	.|Q16206;A4QPE1	.|ENOX2_HUMAN;.	.|I	-1|466;495;466;523;495	.|ENSP00000337146:M495I;ENSP00000359965:M495I	.|.	.|M	-|-	.|3	.|0	ENOX2|ENOX2	129596660|129596660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.278000|1.278000	0.33179|0.33179	2.335000|2.335000	0.79485|0.79485	0.600000|0.600000	0.82982|0.82982	.|ATG		0.368	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		9	20	1	0	5.4927e-09	1	6.54492e-09	9	20				
MPP5	64398	broad.mit.edu	37	14	67745898	67745898	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:67745898C>T	ENST00000261681.4	+	3	672	c.11C>T	c.(10-12)tCc>tTc	p.S4F	MPP5_ENST00000556345.1_Missense_Mutation_p.S4F|MPP5_ENST00000555925.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	4					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ATGACAACATCCCATATGAAT	0.368																																						ENST00000261681.4																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18						c.(10-12)tCc>tTc		membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)							38.0	37.0	38.0					14																	67745898		2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67745898C>T	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.11C>T	14.37:g.67745898C>T	ENSP00000261681:p.Ser4Phe					MPP5_ENST00000555925.1_Intron|MPP5_ENST00000556345.1_Missense_Mutation_p.S4F	p.S4F	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	3	672	+			4					A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.11C>T	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067234	0.76301	.	.	ENSG00000072415	ENST00000261681;ENST00000556345	T	0.10477	2.87	5.67	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	L	0.46157	1.445	0.80722	D	1	B;D	0.64830	0.001;0.994	B;D	0.74348	0.004;0.983	T	0.00945	-1.1505	10	0.66056	D	0.02	.	14.4864	0.67619	0.0:0.9297:0.0:0.0703	.	4;4	Q8N3R9;G3V2B0	MPP5_HUMAN;.	F	4	ENSP00000261681:S4F	ENSP00000261681:S4F	S	+	2	0	MPP5	66815651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.169000	0.77578	1.409000	0.46915	0.655000	0.94253	TCC		0.368	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		9	23	0	0	0	1	0	9	23				
SOWAHA	134548	broad.mit.edu	37	5	132150907	132150907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132150907C>T	ENST00000378693.2	+	1	1875	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	532																	AATCTCTCGTCGACCTACTCC	0.567																																						ENST00000378693.2																			0											c.(1594-1596)Cga>Tga		sosondowah ankyrin repeat domain family member A							27.0	32.0	31.0					5																	132150907		2192	4292	6484	SO:0001587	stop_gained	134548							g.chr5:132150907C>T	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1594C>T	5.37:g.132150907C>T	ENSP00000367965:p.Arg532*						p.R532*	NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN			1	1875	+			532					Q8NAE7	Nonsense_Mutation	SNP	ENST00000378693.2	37	c.1594C>T	CCDS43361.1	.	.	.	.	.	.	.	.	.	.	C	40	8.216907	0.98709	.	.	ENSG00000198944	ENST00000378693	.	.	.	5.63	2.79	0.32731	.	0.224089	0.22536	N	0.058795	.	.	.	.	.	.	0.28158	N	0.929103	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5068	9.6044	0.39624	0.2655:0.5975:0.137:0.0	.	.	.	.	X	532	.	ENSP00000367965:R532X	R	+	1	2	ANKRD43	132178806	0.003000	0.15002	0.024000	0.17045	0.640000	0.38277	0.174000	0.16743	0.422000	0.26005	0.643000	0.83706	CGA		0.567	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		12	34	0	0	0	1	0	12	34				
MEP1B	4225	broad.mit.edu	37	18	29797891	29797891	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29797891G>T	ENST00000269202.6	+	14	2101	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	MEP1B_ENST00000581447.1_Missense_Mutation_p.R685M	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	685					digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TATCGTGAAAGGATGAGCTCA	0.398																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2053-2055)aGg>aTg		meprin A, beta							137.0	138.0	138.0					18																	29797891		1985	4162	6147	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29797891G>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.2054G>T	18.37:g.29797891G>T	ENSP00000269202:p.Arg685Met					MEP1B_ENST00000581447.1_Missense_Mutation_p.R685M	p.R685M	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN			14	2101	+			685					B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.2054G>T	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534684	0.27475	.	.	ENSG00000141434	ENST00000269202	T	0.21734	1.99	4.74	-5.04	0.02964	.	1.210960	0.05333	N	0.528698	T	0.17492	0.0420	L	0.36672	1.1	0.09310	N	1	P	0.39624	0.681	B	0.35971	0.215	T	0.42292	-0.9460	10	0.72032	D	0.01	-0.9884	14.2945	0.66302	0.2647:0.0:0.7353:0.0	.	685	Q16820	MEP1B_HUMAN	M	685	ENSP00000269202:R685M	ENSP00000269202:R685M	R	+	2	0	MEP1B	28051889	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.171000	0.09883	-0.766000	0.04639	-0.444000	0.05651	AGG		0.398	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		22	25	1	0	1.9806e-07	1	2.28356e-07	22	25				
TBX5	6910	broad.mit.edu	37	12	114803995	114803995	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114803995T>G	ENST00000310346.4	-	8	1623	c.957A>C	c.(955-957)caA>caC	p.Q319H	TBX5_ENST00000526441.1_Missense_Mutation_p.Q319H|TBX5_ENST00000349716.5_Missense_Mutation_p.Q269H|TBX5_ENST00000405440.2_Missense_Mutation_p.Q319H	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	319					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AATGGTAAATTTGGCTATGCT	0.532																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(955-957)caA>caC		T-box 5							108.0	102.0	104.0					12																	114803995		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114803995T>G	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.957A>C	12.37:g.114803995T>G	ENSP00000309913:p.Gln319His					TBX5_ENST00000349716.5_Missense_Mutation_p.Q269H|TBX5_ENST00000526441.1_Missense_Mutation_p.Q319H|TBX5_ENST00000405440.2_Missense_Mutation_p.Q319H	p.Q319H	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1623	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		319					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.957A>C	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185398	0.57909	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.88201	-2.31;-2.35;-2.35;-2.3	5.62	-11.2	0.00127	.	0.125321	0.56097	D	0.000039	D	0.88492	0.6451	M	0.66939	2.045	0.26278	N	0.978324	P;P	0.50443	0.935;0.906	P;P	0.55824	0.785;0.459	D	0.87407	0.2373	10	0.39692	T	0.17	.	15.3292	0.74193	0.0:0.5965:0.2389:0.1646	.	319;319	Q99593-2;Q99593	.;TBX5_HUMAN	H	269;319;216;319;319	ENSP00000337723:Q269H;ENSP00000309913:Q319H;ENSP00000384152:Q319H;ENSP00000433292:Q319H	ENSP00000309913:Q319H	Q	-	3	2	TBX5	113288378	0.000000	0.05858	0.051000	0.19133	0.929000	0.56500	-1.790000	0.01759	-2.475000	0.00527	-1.151000	0.01829	CAA		0.532	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		7	65	0	0	0	1	0	7	65				
ZNF616	90317	broad.mit.edu	37	19	52619047	52619047	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52619047C>A	ENST00000600228.1	-	4	1631	c.1370G>T	c.(1369-1371)aGa>aTa	p.R457I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTATGAATTCTCCAATGCAC	0.403																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1369-1371)aGa>aTa		zinc finger protein 616							156.0	139.0	144.0					19																	52619047		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619047C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1370G>T	19.37:g.52619047C>A	ENSP00000471000:p.Arg457Ile					ZNF616_ENST00000330123.5_3'UTR	p.R457I	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1631	-			457					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1370G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253457	0.22965	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32164	0.0820	L	0.45581	1.43	0.09310	N	1	P	0.50272	0.933	P	0.50708	0.648	T	0.15549	-1.0433	8	0.52906	T	0.07	.	0.119	0.00063	0.2989:0.253:0.1574:0.2907	.	457	Q08AN1	ZN616_HUMAN	I	457	.	ENSP00000328722:R457I	R	-	2	0	ZNF616	57310859	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-5.295000	0.00134	-1.502000	0.01814	-0.680000	0.03767	AGA		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		37	60	1	0	2.38352e-08	1	2.80976e-08	37	60				
IGSF5	150084	broad.mit.edu	37	21	41151230	41151230	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41151230G>T	ENST00000380588.4	+	5	1035	c.932G>T	c.(931-933)aGa>aTa	p.R311I	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	311					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R311I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AGAAGAAAAAGAGGTAATTTT	0.413																																						ENST00000380588.4																			1	Substitution - Missense(1)	p.R311I(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(931-933)aGa>aTa		immunoglobulin superfamily, member 5							59.0	53.0	55.0					21																	41151230		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41151230G>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.932G>T	21.37:g.41151230G>T	ENSP00000369962:p.Arg311Ile					IGSF5_ENST00000479378.1_3'UTR	p.R311I	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			5	1035	+		Prostate(19;5.35e-06)	311						Missense_Mutation	SNP	ENST00000380588.4	37	c.932G>T	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	G	5.532	0.283067	0.10458	.	.	ENSG00000183067	ENST00000380588	T	0.06371	3.31	4.24	1.88	0.25563	.	0.552019	0.20487	N	0.091372	T	0.02688	0.0081	N	0.08118	0	0.38994	D	0.959216	B	0.30361	0.277	B	0.25405	0.06	T	0.52139	-0.8615	10	0.42905	T	0.14	-8.0378	3.9995	0.09574	0.6732:0.214:0.1128:0.0	.	311	Q9NSI5	IGSF5_HUMAN	I	311	ENSP00000369962:R311I	ENSP00000369962:R311I	R	+	2	0	IGSF5	40073100	0.998000	0.40836	0.598000	0.28837	0.014000	0.08584	1.160000	0.31761	0.408000	0.25621	-0.302000	0.09304	AGA		0.413	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			9	26	1	0	2.62144e-13	1	3.35237e-13	9	26				
COL7A1	1294	broad.mit.edu	37	3	48630635	48630635	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48630635G>T	ENST00000328333.8	-	5	689	c.582C>A	c.(580-582)ttC>ttA	p.F194L	COL7A1_ENST00000454817.1_Missense_Mutation_p.F194L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	194	Nonhelical region (NC1).|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAAGAAGAAGAAGTCACTGG	0.567																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(580-582)ttC>ttA		collagen, type VII, alpha 1							145.0	110.0	122.0					3																	48630635		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48630635G>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.582C>A	3.37:g.48630635G>T	ENSP00000332371:p.Phe194Leu					COL7A1_ENST00000454817.1_Missense_Mutation_p.F194L	p.F194L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	5	689	-			194			Nonhelical region (NC1).|VWFA 1.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.582C>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231031	0.39399	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.83075	-1.68;-1.68	4.22	4.22	0.49857	von Willebrand factor, type A (3);	0.160653	0.29624	N	0.011638	T	0.80829	0.4698	N	0.17901	0.54	0.38837	D	0.955985	D	0.67145	0.996	D	0.63381	0.914	T	0.77752	-0.2470	10	0.20046	T	0.44	.	11.5951	0.50968	0.0881:0.0:0.9119:0.0	.	194	Q02388	CO7A1_HUMAN	L	194	ENSP00000332371:F194L;ENSP00000412569:F194L	ENSP00000332371:F194L	F	-	3	2	COL7A1	48605639	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.869000	0.56062	2.072000	0.62099	0.561000	0.74099	TTC		0.567	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		9	66	1	0	0.000442599	1	0.00046913	9	66				
CMYA5	202333	broad.mit.edu	37	5	79084796	79084796	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79084796C>A	ENST00000446378.2	+	10	11589	c.11558C>A	c.(11557-11559)tCt>tAt	p.S3853Y	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3853	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S3853Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTATTTAGATCTTTCTCTGGA	0.338																																						ENST00000446378.2																			1	Substitution - Missense(1)	p.S3853Y(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(11557-11559)tCt>tAt		cardiomyopathy associated 5							102.0	97.0	98.0					5																	79084796		1823	4089	5912	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79084796C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11558C>A	5.37:g.79084796C>A	ENSP00000394770:p.Ser3853Tyr					CTC-431G16.2_ENST00000421252.2_RNA	p.S3853Y	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	10	11589	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3853			Fibronectin type-III 2.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.11558C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422592	0.83559	.	.	ENSG00000164309	ENST00000446378	T	0.54071	0.59	5.6	5.6	0.85130	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73513	0.3596	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75605	-0.3260	9	0.87932	D	0	.	19.2128	0.93765	0.0:1.0:0.0:0.0	.	3853	Q8N3K9	CMYA5_HUMAN	Y	3853	ENSP00000394770:S3853Y	ENSP00000394770:S3853Y	S	+	2	0	CMYA5	79120552	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.985000	0.76193	2.632000	0.89209	0.650000	0.86243	TCT		0.338	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		24	39	1	0	3.5997e-14	1	4.67138e-14	24	39				
NME9	347736	broad.mit.edu	37	3	138025310	138025310	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:138025310C>A	ENST00000333911.3	-	7	500	c.473G>T	c.(472-474)aGg>aTg	p.R158M	NME9_ENST00000341790.5_Missense_Mutation_p.R95M|NME9_ENST00000317876.4_Missense_Mutation_p.R97M|NME9_ENST00000484930.1_Missense_Mutation_p.R95M|NME9_ENST00000536478.1_Missense_Mutation_p.R97M|NME9_ENST00000383180.2_Missense_Mutation_p.R97M			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	158	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GGTACAGGTCCTCTCTGATGA	0.458																																						ENST00000383180.2																			0											c.(289-291)aGg>aTg		NME/NM23 family member 9							158.0	138.0	145.0					3																	138025310		2203	4300	6503	SO:0001583	missense	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138025310C>A	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.473G>T	3.37:g.138025310C>A	ENSP00000335444:p.Arg158Met					NME9_ENST00000341790.5_Missense_Mutation_p.R95M|NME9_ENST00000317876.4_Missense_Mutation_p.R97M|NME9_ENST00000333911.3_Missense_Mutation_p.R158M|NME9_ENST00000536478.1_Missense_Mutation_p.R97M|NME9_ENST00000484930.1_Missense_Mutation_p.R95M	p.R97M	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN			8	527	-			158			Thioredoxin.		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37	c.290G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.008364|2.008364	0.35415|0.35415	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000474690|ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911;ENST00000475751	T|T;T;T;T;T;T;T	0.48522|0.48836	0.81|0.81;0.81;0.8;0.8;0.81;0.82;0.9	4.95|4.95	2.56|2.56	0.30785|0.30785	.|.	.|0.104769	.|0.64402	.|D	.|0.000007	T|T	0.44993|0.44993	0.1320|0.1320	L|L	0.32530|0.32530	0.975|0.975	0.30596|0.30596	N|N	0.761035|0.761035	.|D;P;P	.|0.53885	.|0.963;0.874;0.706	.|P;B;P	.|0.53809	.|0.735;0.243;0.504	T|T	0.49072|0.49072	-0.8977|-0.8977	7|10	0.17369|0.87932	T|D	0.5|0	-23.9113|-23.9113	7.8496|7.8496	0.29446|0.29446	0.0:0.1933:0.0:0.8067|0.0:0.1933:0.0:0.8067	.|.	.|95;158;97	.|Q86XW9-3;Q86XW9;Q86XW9-2	.|.;TXND6_HUMAN;.	D|M	88|97;97;95;95;97;158;158	ENSP00000420435:E88D|ENSP00000372667:R97M;ENSP00000321929:R97M;ENSP00000419882:R95M;ENSP00000341084:R95M;ENSP00000440143:R97M;ENSP00000335444:R158M;ENSP00000419147:R158M	ENSP00000420435:E88D|ENSP00000321929:R97M	E|R	-|-	3|2	2|0	TXNDC6|TXNDC6	139508000|139508000	1.000000|1.000000	0.71417|0.71417	0.336000|0.336000	0.25522|0.25522	0.095000|0.095000	0.18619|0.18619	1.792000|1.792000	0.38754|0.38754	0.842000|0.842000	0.35045|0.35045	-0.469000|-0.469000	0.05056|0.05056	GAG|AGG		0.458	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		13	40	1	0	0.00136819	1	0.00143372	13	40				
CYP7A1	1581	broad.mit.edu	37	8	59409553	59409553	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:59409553G>T	ENST00000301645.3	-	3	655	c.518C>A	c.(517-519)tCt>tAt	p.S173Y		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	173					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTAGCAGAAAGAATACATCCC	0.453									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(517-519)tCt>tAt		cytochrome P450, family 7, subfamily A, polypeptide 1							137.0	135.0	135.0					8																	59409553		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409553G>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.518C>A	8.37:g.59409553G>T	ENSP00000301645:p.Ser173Tyr						p.S173Y	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			3	655	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	173					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.518C>A	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356019	0.61293	.	.	ENSG00000167910	ENST00000301645	T	0.69685	-0.42	5.5	5.5	0.81552	.	0.270403	0.42172	D	0.000742	T	0.74589	0.3736	M	0.61703	1.905	0.32739	N	0.507957	D	0.56521	0.976	P	0.55508	0.777	T	0.79339	-0.1844	10	0.40728	T	0.16	-7.0852	15.379	0.74637	0.0:0.0:0.86:0.14	.	173	P22680	CP7A1_HUMAN	Y	173	ENSP00000301645:S173Y	ENSP00000301645:S173Y	S	-	2	0	CYP7A1	59572107	0.983000	0.35010	0.993000	0.49108	0.609000	0.37215	2.773000	0.47686	2.747000	0.94245	0.462000	0.41574	TCT		0.453	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		32	101	1	0	3.67414e-24	1	5.15076e-24	32	101				
AKAP6	9472	broad.mit.edu	37	14	33292587	33292587	+	Silent	SNP	C	C	A	rs149001001		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:33292587C>A	ENST00000280979.4	+	13	5738	c.5568C>A	c.(5566-5568)gtC>gtA	p.V1856V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1856					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAAAACGTGTCTCTGAAAATA	0.353																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5566-5568)gtC>gtA		A kinase (PRKA) anchor protein 6							72.0	73.0	73.0					14																	33292587		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292587C>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5568C>A	14.37:g.33292587C>A						AKAP6_ENST00000557272.1_Intron	p.V1856V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5738	+	Breast(36;0.0388)|Prostate(35;0.15)		1856					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.5568C>A	CCDS9644.1																																																																																				0.353	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		28	40	1	0	2.14196e-07	1	2.46404e-07	28	40				
MTF2	22823	broad.mit.edu	37	1	93581174	93581174	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:93581174G>A	ENST00000370298.4	+	6	920	c.631G>A	c.(631-633)Gac>Aac	p.D211N	MTF2_ENST00000540243.1_Splice_Site_p.D109N|MTF2_ENST00000545708.1_Splice_Site_p.D109N|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000370303.4_Splice_Site_p.D211N	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	211					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AGGCCCTGGAGAGTAAGTAAA	0.383																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e6+1		metal response element binding transcription factor 2							89.0	81.0	84.0					1																	93581174		2203	4300	6503	SO:0001630	splice_region_variant	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93581174G>A	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.632+1G>A	1.37:g.93581174G>A						MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Splice_Site_p.D109_splice|MTF2_ENST00000540243.1_Splice_Site_p.D109_splice|MTF2_ENST00000370303.4_Splice_Site_p.D211_splice	p.D211_splice	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	6	920	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	211					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Splice_Site	SNP	ENST00000370298.4	37	c.632_splice	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312696	0.95655	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.18	5.18	0.71444	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	L	0.41906	1.305	0.80722	D	1	P;B	0.50943	0.94;0.196	P;B	0.52267	0.694;0.266	T	0.00923	-1.1513	10	0.44086	T	0.13	-7.134	18.6979	0.91610	0.0:0.0:1.0:0.0	.	211;211	B1AKT6;Q9Y483	.;MTF2_HUMAN	N	109;109;211;109;211	ENSP00000444962:D109N;ENSP00000443295:D109N;ENSP00000359321:D211N;ENSP00000359326:D211N	ENSP00000359321:D211N	D	+	1	0	MTF2	93353762	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.410000	0.81850	0.655000	0.94253	GAC		0.383	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358	Missense_Mutation	4	51	0	0	0	1	0	4	51				
CADPS	8618	broad.mit.edu	37	3	62477118	62477118	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62477118T>G	ENST00000383710.4	-	21	3271	c.2922A>C	c.(2920-2922)caA>caC	p.Q974H	CADPS_ENST00000357948.3_Missense_Mutation_p.Q944H|CADPS_ENST00000283269.9_Missense_Mutation_p.Q984H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	974	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAAACAGGTCTTGCAGGTGTT	0.428																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2920-2922)caA>caC		Ca++-dependent secretion activator							135.0	131.0	132.0					3																	62477118		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62477118T>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2922A>C	3.37:g.62477118T>G	ENSP00000373215:p.Gln974His					CADPS_ENST00000283269.9_Missense_Mutation_p.Q984H|CADPS_ENST00000357948.3_Missense_Mutation_p.Q944H	p.Q974H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	21	3271	-		Lung SC(41;0.0452)	974			Interaction with DRD2.|MHD1.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2922A>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078056	0.76528	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.32753	1.44;1.44;1.44	5.79	1.21	0.21127	Munc13 homology 1 (1);	0.121611	0.56097	D	0.000024	T	0.47488	0.1448	M	0.65975	2.015	0.80722	D	1	D;D;P;D	0.76494	0.999;0.995;0.947;0.98	D;D;P;P	0.77004	0.968;0.989;0.453;0.891	T	0.32798	-0.9893	10	0.36615	T	0.2	.	10.2711	0.43483	0.0:0.3448:0.0:0.6552	.	944;984;974;974	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	H	974;974;944;984	ENSP00000373215:Q974H;ENSP00000350632:Q944H;ENSP00000283269:Q984H	ENSP00000283269:Q984H	Q	-	3	2	CADPS	62452158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.124000	0.31320	0.323000	0.23307	0.533000	0.62120	CAA		0.428	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		14	83	0	0	0	1	0	14	83				
TSHR	7253	broad.mit.edu	37	14	81610603	81610603	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:81610603A>G	ENST00000541158.2	+	11	2523	c.2201A>G	c.(2200-2202)aAc>aGc	p.N734S	TSHR_ENST00000298171.2_Missense_Mutation_p.N734S|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	734					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGTCTCCACAACATGGAAGAT	0.473			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(2200-2202)aAc>aGc		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						116.0	107.0	110.0					14																	81610603		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610603A>G	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.2201A>G	14.37:g.81610603A>G	ENSP00000441235:p.Asn734Ser					TSHR_ENST00000298171.2_Missense_Mutation_p.N734S|RP11-114N19.3_ENST00000557775.1_RNA	p.N734S			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	2523	+			734					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.2201A>G	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	A	5.500	0.277213	0.10403	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.74947	-0.89;-0.89	5.1	3.95	0.45737	.	0.503412	0.24873	N	0.034911	T	0.59770	0.2218	L	0.43152	1.355	0.27302	N	0.957557	B	0.21147	0.052	B	0.16722	0.016	T	0.43523	-0.9386	10	0.07175	T	0.84	.	8.611	0.33801	0.855:0.0:0.145:0.0	.	734	F5GYU5	.	S	734;381;734	ENSP00000441235:N734S;ENSP00000298171:N734S	ENSP00000298171:N734S	N	+	2	0	TSHR	80680356	0.969000	0.33509	0.975000	0.42487	0.689000	0.40095	1.904000	0.39868	2.052000	0.61016	0.459000	0.35465	AAC		0.473	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		37	59	0	0	0	1	0	37	59				
DACH2	117154	broad.mit.edu	37	X	85969606	85969606	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85969606T>C	ENST00000373125.4	+	6	987	c.987T>C	c.(985-987)ccT>ccC	p.P329P	DACH2_ENST00000510272.1_Silent_p.P110P|DACH2_ENST00000508860.1_Silent_p.P162P|DACH2_ENST00000373131.1_Silent_p.P316P	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	329					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCAGCTTACCTCCTGCATCAG	0.438																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(946-948)ccT>ccC		dachshund homolog 2 (Drosophila)							192.0	155.0	167.0					X																	85969606		2203	4300	6503	SO:0001819	synonymous_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969606T>C	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.987T>C	X.37:g.85969606T>C						DACH2_ENST00000508860.1_Silent_p.P162P|DACH2_ENST00000373125.4_Silent_p.P329P|DACH2_ENST00000510272.1_Silent_p.P110P	p.P316P	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			5	1111	+			329					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	c.948T>C	CCDS14455.1																																																																																				0.438	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		17	93	0	0	0	1	0	17	93				
FAT4	79633	broad.mit.edu	37	4	126240857	126240857	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126240857A>G	ENST00000394329.3	+	1	3304	c.3291A>G	c.(3289-3291)agA>agG	p.R1097R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1097	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGATAACAGACCTCTTTTTA	0.393																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(3289-3291)agA>agG		FAT atypical cadherin 4							167.0	160.0	162.0					4																	126240857		1870	4082	5952	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240857A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3291A>G	4.37:g.126240857A>G							p.R1097R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	3304	+			1097			Cadherin 10.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3291A>G	CCDS3732.3																																																																																				0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	98	0	0	0	1	0	18	98				
TACR1	6869	broad.mit.edu	37	2	75425876	75425876	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:75425876C>A	ENST00000305249.5	-	1	950	c.185G>T	c.(184-186)aGa>aTa	p.R62I	TACR1_ENST00000409848.3_Missense_Mutation_p.R62I	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	62					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGTCCTCATTCTTTTGTGGGC	0.522																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(184-186)aGa>aTa		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						160.0	134.0	143.0					2																	75425876		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425876C>A	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.185G>T	2.37:g.75425876C>A	ENSP00000303522:p.Arg62Ile					TACR1_ENST00000409848.3_Missense_Mutation_p.R62I	p.R62I	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			1	950	-			62					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.185G>T	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566981	0.86439	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.73575	-0.76;-0.76	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93387	0.6748	10	0.87932	D	0	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	62	P25103	NK1R_HUMAN	I	62	ENSP00000303522:R62I;ENSP00000386448:R62I	ENSP00000303522:R62I	R	-	2	0	TACR1	75279384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.774000	0.62339	2.854000	0.98071	0.655000	0.94253	AGA		0.522	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		17	38	1	0	4.7546e-09	1	5.67505e-09	17	38				
MED13L	23389	broad.mit.edu	37	12	116446641	116446641	+	Missense_Mutation	SNP	T	T	G	rs569740837		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116446641T>G	ENST00000281928.3	-	10	1783	c.1577A>C	c.(1576-1578)gAt>gCt	p.D526A		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	526						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CATTTGCTTATCATATTTCCT	0.468																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1576-1578)gAt>gCt		mediator complex subunit 13-like							137.0	121.0	127.0					12																	116446641		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446641T>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1577A>C	12.37:g.116446641T>G	ENSP00000281928:p.Asp526Ala						p.D526A	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1783	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		526					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1577A>C	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.412624	0.42817	.	.	ENSG00000123066	ENST00000281928	T	0.74315	-0.83	5.76	5.76	0.90799	.	0.524271	0.21892	N	0.067565	T	0.65831	0.2729	L	0.38175	1.15	0.34488	D	0.704639	B	0.20261	0.043	B	0.19946	0.027	T	0.67154	-0.5742	10	0.16896	T	0.51	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	526	Q71F56	MD13L_HUMAN	A	526	ENSP00000281928:D526A	ENSP00000281928:D526A	D	-	2	0	MED13L	114931024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.498000	0.60373	2.206000	0.71126	0.533000	0.62120	GAT		0.468	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			21	25	0	0	0	1	0	21	25				
PKD1L2	114780	broad.mit.edu	37	16	81224277	81224277	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81224277C>A	ENST00000525539.1	-	0	1663				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CACACTCTTTCCTTCAGCATT	0.413																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1663-1665)gGa>gTa		polycystic kidney disease 1-like 2							144.0	144.0	144.0					16																	81224277		1858	4106	5964			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81224277C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81224277C>A						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.G555V			Q7Z442	PK1L2_HUMAN			9	1663	-			555			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1664G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.089|6.089	0.384660|0.384660	0.11524|0.11524	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000337114|ENST00000526632	T|.	0.01240|.	5.12|.	4.19|4.19	-2.35|-2.35	0.06684|0.06684	Egg jelly receptor, REJ-like (1);|.	2.102090|.	0.01637|.	N|.	0.023824|.	T|T	0.23249|0.23249	0.0562|0.0562	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.21225|.	0.053;0.003|.	B;B|.	0.12837|.	0.008;0.004|.	T|T	0.29971|0.29971	-0.9994|-0.9994	9|4	0.41790|.	T|.	0.15|.	0.5613|0.5613	5.3644|5.3644	0.16105|0.16105	0.0:0.4266:0.1803:0.3931|0.0:0.4266:0.1803:0.3931	.|.	555;555|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	V|S	555|82	ENSP00000337397:G555V|.	ENSP00000337397:G555V|.	G|R	-|-	2|3	0|2	PKD1L2|PKD1L2	79781778|79781778	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.907000|0.907000	0.53573|0.53573	-0.694000|-0.694000	0.05115|0.05115	-0.602000|-0.602000	0.05775|0.05775	-0.402000|-0.402000	0.06365|0.06365	GGA|AGG		0.413	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			35	79	1	0	2.19962e-31	1	3.1472e-31	35	79				
GPR37	2861	broad.mit.edu	37	7	124404113	124404113	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:124404113C>A	ENST00000303921.2	-	1	1568	c.918G>T	c.(916-918)tgG>tgT	p.W306C		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	306					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAGAAAGTCCCAGAAGGCCA	0.552																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(916-918)tgG>tgT		G protein-coupled receptor 37 (endothelin receptor type B-like)							123.0	131.0	129.0					7																	124404113		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404113C>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.918G>T	7.37:g.124404113C>A	ENSP00000306449:p.Trp306Cys						p.W306C	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			1	1568	-			306					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.918G>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424323	0.83667	.	.	ENSG00000170775	ENST00000303921	T	0.71461	-0.57	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.195097	0.47455	D	0.000232	T	0.75620	0.3874	L	0.45581	1.43	0.80722	D	1	P	0.51240	0.943	P	0.52957	0.714	T	0.75619	-0.3255	10	0.52906	T	0.07	-26.393	18.6302	0.91357	0.0:1.0:0.0:0.0	.	306	O15354	GPR37_HUMAN	C	306	ENSP00000306449:W306C	ENSP00000306449:W306C	W	-	3	0	GPR37	124191349	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.645000	0.83430	2.876000	0.98609	0.643000	0.83706	TGG		0.552	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		25	116	1	0	4.26978e-12	1	5.35675e-12	25	116				
A2M	2	broad.mit.edu	37	12	9220799	9220799	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:9220799T>C	ENST00000318602.7	-	35	4695	c.4388A>G	c.(4387-4389)tAc>tGc	p.Y1463C	A2M-AS1_ENST00000499762.1_RNA	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1463					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGGAGCATTGTACTCAGCAAT	0.428																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(4387-4389)tAc>tGc		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						68.0	68.0	68.0					12																	9220799		1949	4147	6096	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9220799T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.4388A>G	12.37:g.9220799T>C	ENSP00000323929:p.Tyr1463Cys						p.Y1463C	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			35	4695	-			1463					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.4388A>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.599218	0.66332	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.61274	0.12	4.39	4.39	0.52855	Alpha-macroglobulin, receptor-binding (3);	0.155271	0.43110	D	0.000608	D	0.82467	0.5043	H	0.96365	3.81	0.47511	D	0.999447	D	0.89917	1.0	D	0.97110	1.0	D	0.87821	0.2638	10	0.87932	D	0	.	13.4385	0.61099	0.0:0.0:0.0:1.0	.	1463	P01023	A2MG_HUMAN	C	1463;1478	ENSP00000323929:Y1463C	ENSP00000323929:Y1463C	Y	-	2	0	A2M	9112066	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.876000	0.63079	2.205000	0.71048	0.533000	0.62120	TAC		0.428	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		8	11	0	0	0	1	0	8	11				
BTN3A2	11118	broad.mit.edu	37	6	26373245	26373245	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26373245C>T	ENST00000356386.2	+	6	1024	c.836C>T	c.(835-837)gCt>gTt	p.A279V	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A279V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A237V|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A256V	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	279					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAAATAACTGCTCTGTCCAGT	0.512																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(835-837)gCt>gTt		butyrophilin, subfamily 3, member A2							101.0	99.0	100.0					6																	26373245		2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26373245C>T	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.836C>T	6.37:g.26373245C>T	ENSP00000348751:p.Ala279Val					BTN3A2_ENST00000396934.3_Missense_Mutation_p.A256V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A237V|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A279V	p.A279V	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			6	1024	+			279					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.836C>T	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	c	5.661	0.306626	0.10733	.	.	ENSG00000186470	ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T	0.03496	4.05;4.05;3.91;4.05;4.05;4.47	0.744	-0.781	0.10965	.	.	.	.	.	T	0.00784	0.0026	L	0.31664	0.95	0.09310	N	1	B;B	0.20671	0.047;0.028	B;B	0.16289	0.015;0.012	T	0.46373	-0.9196	8	0.27082	T	0.32	.	.	.	.	.	256;279	F8W6E0;P78410	.;BT3A2_HUMAN	V	279;279;279;256;279;279;237	ENSP00000432138:A279V;ENSP00000348751:A279V;ENSP00000380140:A256V;ENSP00000366937:A279V;ENSP00000380152:A279V;ENSP00000442687:A237V	ENSP00000348751:A279V	A	+	2	0	BTN3A2	26481224	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.969000	0.03813	-0.289000	0.09038	0.411000	0.27672	GCT		0.512	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			28	58	0	0	0	1	0	28	58				
VCAN	1462	broad.mit.edu	37	5	82833745	82833745	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82833745C>T	ENST00000265077.3	+	8	5488	c.4923C>T	c.(4921-4923)ggC>ggT	p.G1641G	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.G654G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1641	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTACAGAAGGCTCTGGAGAAG	0.418																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(4921-4923)ggC>ggT		versican							53.0	53.0	53.0					5																	82833745		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82833745C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4923C>T	5.37:g.82833745C>T						VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.G654G	p.G1641G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	5488	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1641			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.4923C>T	CCDS4060.1																																																																																				0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		16	38	0	0	0	1	0	16	38				
GALNT4	8693	broad.mit.edu	37	12	89917476	89917476	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:89917476A>C	ENST00000529983.2	-	1	1107	c.851T>G	c.(850-852)tTt>tGt	p.F284C	POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000413530.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.F281C	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	284					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ATGCCACTGAAATGTTAAACG	0.458																																						ENST00000548729.1																			0											c.(841-843)tTt>tGt									71.0	70.0	70.0					12																	89917476		1902	4133	6035	SO:0001583	missense	0							g.chr12:89917476A>C	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.851T>G	12.37:g.89917476A>C	ENSP00000436604:p.Phe284Cys					POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.F284C	p.F281C	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1144	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.842T>G	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824632	0.71143	.	.	ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000529983	T;T	0.61859	0.07;0.07	5.77	5.77	0.91146	Glycosyl transferase, family 2 (1);	.	.	.	.	T	0.79441	0.4446	M	0.89163	3.01	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83509	0.0079	9	0.87932	D	0	.	13.8304	0.63377	1.0:0.0:0.0:0.0	.	281;284	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	C	281;284	ENSP00000447852:F281C;ENSP00000436604:F284C	ENSP00000436604:F284C	F	-	2	0	GALNT4;RP11-1109F11.4	88441607	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.225000	0.95219	2.201000	0.70794	0.533000	0.62120	TTT		0.458	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		24	40	0	0	0	1	0	24	40				
ANKDD1A	348094	broad.mit.edu	37	15	65223707	65223707	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65223707C>T	ENST00000380230.3	+	8	721	c.692C>T	c.(691-693)tCg>tTg	p.S231L	ANKDD1A_ENST00000496660.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.S231L|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S231L|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000491145.1_3'UTR	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	231					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCCTGCATTCGGCTGCTGGA	0.622																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(691-693)tCg>tTg		ankyrin repeat and death domain containing 1A							95.0	63.0	73.0					15																	65223707		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65223707C>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.692C>T	15.37:g.65223707C>T	ENSP00000369579:p.Ser231Leu					ANKDD1A_ENST00000395723.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S231L|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.S231L	p.S231L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			8	721	+			231					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.692C>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.063029	0.00386	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000319597;ENST00000496660;ENST00000483400;ENST00000395723	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	4.04	3.09	0.35607	Ankyrin repeat-containing domain (4);	0.540499	0.16174	N	0.226155	T	0.18882	0.0453	N	0.00462	-1.47	0.09310	N	0.999995	B;B;B;B;B	0.20780	0.048;0.002;0.001;0.001;0.002	B;B;B;B;B	0.15484	0.013;0.001;0.001;0.0;0.001	T	0.22347	-1.0219	10	0.11794	T	0.64	-2.2126	7.7276	0.28769	0.0:0.8809:0.0:0.1191	.	96;231;137;231;231	E7ET26;Q495B1;A4QMR4;Q495B1-2;Q495B1-1	.;AKD1A_HUMAN;.;.;.	L	231;231;231;96;140;92;140	ENSP00000369579:S231L;ENSP00000350329:S231L;ENSP00000379070:S231L;ENSP00000420999:S140L;ENSP00000423548:S92L;ENSP00000379073:S140L	ENSP00000326203:S96L	S	+	2	0	ANKDD1A	63010760	0.000000	0.05858	0.018000	0.16275	0.037000	0.13140	-0.190000	0.09615	2.102000	0.63906	0.655000	0.94253	TCG		0.622	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		16	24	0	0	0	1	0	16	24				
FGF14	2259	broad.mit.edu	37	13	102378997	102378997	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:102378997T>G	ENST00000376143.4	-	4	571	c.572A>C	c.(571-573)aAa>aCa	p.K191T	FGF14_ENST00000376131.4_Missense_Mutation_p.K196T	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	191					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCTGCTGGTTTGGTTTTCTT	0.358																																						ENST00000376131.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(586-588)aAa>aCa		fibroblast growth factor 14							170.0	150.0	157.0					13																	102378997		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102378997T>G		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.572A>C	13.37:g.102378997T>G	ENSP00000365313:p.Lys191Thr					FGF14_ENST00000376143.4_Missense_Mutation_p.K191T	p.K196T	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN			4	682	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		191					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.587A>C	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411154	0.83340	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	D;D	0.81908	-1.55;-1.55	5.75	5.75	0.90469	.	0.044924	0.85682	D	0.000000	D	0.90776	0.7104	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.91711	0.5381	10	0.72032	D	0.01	.	16.0551	0.80798	0.0:0.0:0.0:1.0	.	196;191	Q92915-2;Q92915	.;FGF14_HUMAN	T	196;191	ENSP00000365301:K196T;ENSP00000365313:K191T	ENSP00000365301:K196T	K	-	2	0	FGF14	101176998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.199000	0.70637	0.482000	0.46254	AAA		0.358	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			26	37	0	0	0	1	0	26	37				
TCEB3	6924	broad.mit.edu	37	1	24077751	24077751	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24077751A>C	ENST00000418390.2	+	4	1005	c.734A>C	c.(733-735)cAg>cCg	p.Q245P	TCEB3_ENST00000609199.1_Missense_Mutation_p.Q219P	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	245					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AATGCCTTTCAGGACAGACTC	0.542											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(733-735)cAg>cCg		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							74.0	83.0	80.0					1																	24077751		2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24077751A>C	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.734A>C	1.37:g.24077751A>C	ENSP00000395574:p.Gln245Pro		OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.Q245P	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1005	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	245					B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.734A>C	CCDS239.2	.	.	.	.	.	.	.	.	.	.	A	17.26	3.345373	0.61073	.	.	ENSG00000011007	ENST00000418390	T	0.08370	3.1	5.22	5.22	0.72569	.	0.120989	0.37715	N	0.001973	T	0.22975	0.0555	M	0.66939	2.045	0.45837	D	0.998706	D	0.63880	0.993	P	0.59288	0.855	T	0.00391	-1.1769	10	0.87932	D	0	-9.7174	13.8284	0.63366	1.0:0.0:0.0:0.0	.	245	Q14241	ELOA1_HUMAN	P	245	ENSP00000395574:Q245P	ENSP00000395574:Q245P	Q	+	2	0	TCEB3	23950338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.653000	0.46691	2.193000	0.70182	0.533000	0.62120	CAG		0.542	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		50	90	0	0	0	1	0	50	90				
CREBBP	1387	broad.mit.edu	37	16	3817823	3817823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3817823C>A	ENST00000262367.5	-	16	3957	c.3148G>T	c.(3148-3150)Gaa>Taa	p.E1050*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1012*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1050					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGTTTCTTTTCATCCACTTCC	0.433			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3148-3150)Gaa>Taa		CREB binding protein							250.0	223.0	232.0					16																	3817823		2197	4300	6497	SO:0001587	stop_gained	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3817823C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3148G>T	16.37:g.3817823C>A	ENSP00000262367:p.Glu1050*					CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1012*	p.E1050*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	16	3957	-		Ovarian(90;0.0266)	1050					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.3148G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	49	15.549454	0.99837	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.61	5.61	0.85477	.	0.069937	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-12.7639	20.0086	0.97443	0.0:1.0:0.0:0.0	.	.	.	.	X	1050;1080;1012	.	ENSP00000262367:E1050X	E	-	1	0	CREBBP	3757824	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.451000	0.66632	2.808000	0.96608	0.655000	0.94253	GAA		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		35	56	1	0	2.20262e-25	1	3.10409e-25	35	56				
STK4	6789	broad.mit.edu	37	20	43653766	43653766	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43653766G>A	ENST00000372806.3	+	10	1395	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STK4_ENST00000499879.2_Missense_Mutation_p.E379K|STK4_ENST00000372801.1_Missense_Mutation_p.E434K|STK4_ENST00000396731.4_Missense_Mutation_p.E434K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	434	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGGAGACTACGAGTTTGTAAG	0.378																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1300-1302)Gag>Aag		serine/threonine kinase 4							97.0	94.0	95.0					20																	43653766		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43653766G>A		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1300G>A	20.37:g.43653766G>A	ENSP00000361892:p.Glu434Lys					STK4_ENST00000372801.1_Missense_Mutation_p.E434K|STK4_ENST00000499879.2_Missense_Mutation_p.E379K|STK4_ENST00000396731.4_Missense_Mutation_p.E434K	p.E434K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			10	1395	+		Myeloproliferative disorder(115;0.0122)	434			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1300G>A	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757440	0.89843	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	6.16	6.16	0.99307	SARAH domain (1);SARAH (1);Protein kinase-like domain (1);	0.218420	0.42821	D	0.000649	T	0.79799	0.4508	L	0.40543	1.245	0.42193	D	0.991732	P;D;P	0.54397	0.936;0.966;0.948	P;B;P	0.49887	0.491;0.324;0.625	T	0.81252	-0.1017	10	0.66056	D	0.02	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	379;434;434	F5H5B4;Q13043-2;Q13043	.;.;STK4_HUMAN	K	434;434;434;379	ENSP00000361892:E434K;ENSP00000379957:E434K;ENSP00000361887:E434K;ENSP00000443514:E379K	ENSP00000361887:E434K	E	+	1	0	STK4	43087180	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.031000	0.64134	2.937000	0.99478	0.650000	0.86243	GAG		0.378	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		12	37	0	0	0	1	0	12	37				
TUBA3E	112714	broad.mit.edu	37	2	130951526	130951526	+	Missense_Mutation	SNP	C	C	T	rs369136801		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:130951526C>T	ENST00000312988.7	-	4	989	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	297					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TTGGCTGGCTCGAAGCAGGCA	0.597																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(889-891)Gag>Aag		tubulin, alpha 3e		C	LYS/GLU	0,4406		0,0,2203	134.0	113.0	120.0		889	2.1	1.0	2		120	1,8595	1.2+/-3.3	0,1,4297	no	missense	TUBA3E	NM_207312.2	56	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	297/451	130951526	1,13001	2203	4298	6501	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951526C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.889G>A	2.37:g.130951526C>T	ENSP00000318197:p.Glu297Lys						p.E297K	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	989	-	Colorectal(110;0.1)		297						Missense_Mutation	SNP	ENST00000312988.7	37	c.889G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	15.00	2.703202	0.48412	0.0	1.16E-4	ENSG00000152086	ENST00000312988	D	0.84730	-1.89	2.96	2.08	0.27032	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.50627	U	0.000117	D	0.93051	0.7788	H	0.97806	4.08	0.43777	D	0.996306	P	0.51240	0.943	P	0.57283	0.817	D	0.92086	0.5676	10	0.87932	D	0	.	8.0775	0.30724	0.0:0.8704:0.0:0.1296	.	297	Q6PEY2	TBA3E_HUMAN	K	297	ENSP00000318197:E297K	ENSP00000318197:E297K	E	-	1	0	TUBA3E	130667996	0.998000	0.40836	0.995000	0.50966	0.947000	0.59692	3.934000	0.56553	0.582000	0.29556	-0.463000	0.05309	GAG		0.597	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		75	131	0	0	0	1	0	75	131				
PIGA	5277	broad.mit.edu	37	X	15344081	15344081	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15344081C>A	ENST00000333590.4	-	3	887	c.803G>T	c.(802-804)aGa>aTa	p.R268I	PIGA_ENST00000542278.1_Missense_Mutation_p.R34I|PIGA_ENST00000482148.1_Intron|PIGA_ENST00000428964.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	268					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAAAATGATTCTCTTTGGTCC	0.358																																						ENST00000333590.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(802-804)aGa>aTa		phosphatidylinositol glycan anchor biosynthesis, class A							151.0	134.0	140.0					X																	15344081		2203	4300	6503	SO:0001583	missense	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15344081C>A	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.803G>T	X.37:g.15344081C>A	ENSP00000369820:p.Arg268Ile					PIGA_ENST00000542278.1_Missense_Mutation_p.R34I|PIGA_ENST00000482148.1_Intron|PIGA_ENST00000428964.1_5'UTR	p.R268I	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			3	887	-	Hepatocellular(33;0.183)		268					B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.803G>T	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134561	0.94517	.	.	ENSG00000165195	ENST00000542278;ENST00000333590	T;T	0.77358	-1.09;-1.08	6.17	6.17	0.99709	Glycosyl transferase, family 1 (1);	0.079361	0.85682	D	0.000000	D	0.92077	0.7489	H	0.97186	3.955	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.70227	0.968;0.95	D	0.92456	0.5974	10	0.34782	T	0.22	-17.6905	18.5888	0.91200	0.0:1.0:0.0:0.0	.	34;268	B4E0V2;P37287	.;PIGA_HUMAN	I	34;268	ENSP00000442653:R34I;ENSP00000369820:R268I	ENSP00000369820:R268I	R	-	2	0	PIGA	15254002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.263000	0.78421	2.618000	0.88619	0.600000	0.82982	AGA		0.358	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		33	78	1	0	1.56442e-22	1	2.17472e-22	33	78				
MUC17	140453	broad.mit.edu	37	7	100674925	100674925	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100674925C>T	ENST00000306151.4	+	3	292	c.228C>T	c.(226-228)gtC>gtT	p.V76V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	76					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAAATGTCGTGGAGCCAA	0.453																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(226-228)gtC>gtT		mucin 17, cell surface associated							101.0	94.0	97.0					7																	100674925		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674925C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.228C>T	7.37:g.100674925C>T							p.V76V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	292	+	Lung NSC(181;0.136)|all_lung(186;0.182)		76					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.228C>T	CCDS34711.1																																																																																				0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		37	54	0	0	0	1	0	37	54				
TDRD6	221400	broad.mit.edu	37	6	46659193	46659193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46659193G>T	ENST00000316081.6	+	1	3328	c.3328G>T	c.(3328-3330)Gaa>Taa	p.E1110*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E1110*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1110					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TATACCAGAAGAAGTGGTGGT	0.378																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3328-3330)Gaa>Taa		tudor domain containing 6							144.0	140.0	142.0					6																	46659193		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46659193G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3328G>T	6.37:g.46659193G>T	ENSP00000346065:p.Glu1110*					TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1110*	p.E1110*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3582	+			1110					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.3328G>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	40	8.281414	0.98740	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.73	4.86	0.63082	.	0.382533	0.29093	N	0.013161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-20.7426	15.0304	0.71701	0.0686:0.0:0.9314:0.0	.	.	.	.	X	1110	.	ENSP00000346065:E1110X	E	+	1	0	TDRD6	46767152	1.000000	0.71417	0.955000	0.39395	0.899000	0.52679	4.446000	0.60014	1.426000	0.47256	0.655000	0.94253	GAA		0.378	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		35	70	1	0	4.62619e-21	1	6.37263e-21	35	70				
PCDHGC3	5098	broad.mit.edu	37	5	140858062	140858062	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140858062T>C	ENST00000308177.3	+	1	2483	c.2379T>C	c.(2377-2379)gaT>gaC	p.D793D	PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	793					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGATCCGGTGTTCT	0.582											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2377-2379)gaT>gaC									16.0	19.0	18.0					5																	140858062		2192	4298	6490	SO:0001819	synonymous_variant	0							g.chr5:140858062T>C	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2379T>C	5.37:g.140858062T>C			OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.D793D	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2483	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.2379T>C	CCDS4261.1																																																																																				0.582	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		9	15	0	0	0	1	0	9	15				
ZNF449	203523	broad.mit.edu	37	X	134494612	134494612	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134494612C>T	ENST00000339249.4	+	5	1308	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	390					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCGATTCACTCGGCGGTCACA	0.413																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(1168-1170)Cgg>Tgg		zinc finger protein 449							99.0	98.0	98.0					X																	134494612		2203	4298	6501	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494612C>T	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1168C>T	X.37:g.134494612C>T	ENSP00000339585:p.Arg390Trp						p.R390W	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			5	1308	+	Acute lymphoblastic leukemia(192;6.56e-05)		390					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.1168C>T	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803065	0.16397	.	.	ENSG00000173275	ENST00000339249	T	0.07444	3.19	4.57	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40385	N	0.001116	T	0.14485	0.0350	L	0.46819	1.47	0.09310	N	1	D	0.89917	1.0	P	0.59056	0.851	T	0.03364	-1.1044	10	0.72032	D	0.01	.	7.5036	0.27532	0.3189:0.5267:0.1544:0.0	.	390	Q6P9G9	ZN449_HUMAN	W	390	ENSP00000339585:R390W	ENSP00000339585:R390W	R	+	1	2	ZNF449	134322278	0.000000	0.05858	0.549000	0.28204	0.381000	0.30169	0.136000	0.15974	0.435000	0.26365	0.529000	0.55759	CGG		0.413	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		43	80	0	0	0	1	0	43	80				
SECISBP2L	9728	broad.mit.edu	37	15	49305000	49305000	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49305000A>G	ENST00000559471.1	-	12	1839	c.1576T>C	c.(1576-1578)Tct>Cct	p.S526P	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S481P	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	526							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GTGTGAAAAGAAGCTGCAGTA	0.348																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(1576-1578)Tct>Cct		SECIS binding protein 2-like							64.0	70.0	68.0					15																	49305000		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49305000A>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1576T>C	15.37:g.49305000A>G	ENSP00000453854:p.Ser526Pro					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S481P	p.S526P	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			12	1839	-			526					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.1576T>C	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	A	4.553	0.102659	0.08731	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.70282	-0.47	5.76	-1.68	0.08212	.	0.295485	0.38005	N	0.001853	T	0.18635	0.0447	N	0.00114	-2.085	0.27064	N	0.963492	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46898	-0.9158	10	0.02654	T	1	.	2.5422	0.04729	0.1633:0.4975:0.1604:0.1788	.	526;481	Q93073;Q93073-2	SBP2L_HUMAN;.	P	481;526	ENSP00000261847:S481P	ENSP00000261847:S481P	S	-	1	0	SECISBP2L	47092292	1.000000	0.71417	0.971000	0.41717	0.934000	0.57294	1.513000	0.35823	-0.201000	0.10284	0.528000	0.53228	TCT		0.348	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		4	47	0	0	0	1	0	4	47				
IL12A-AS1	101928376	broad.mit.edu	37	3	159819394	159819394	+	RNA	SNP	C	C	T	rs527723656		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159819394C>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		GCAGAAAACTCGAAAGCAGAA	0.507																																						ENST00000497452.1																			0																																																			0							g.chr3:159819394C>T	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159819394C>T														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.507	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			43	82	0	0	0	1	0	43	82				
KIF4B	285643	broad.mit.edu	37	5	154394020	154394020	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154394020G>A	ENST00000435029.4	+	1	761	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	201	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGGACTGTGGCCTCCACAGC	0.458																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(601-603)Gcc>Acc		kinesin family member 4B							151.0	142.0	145.0					5																	154394020		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394020G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.601G>A	5.37:g.154394020G>A	ENSP00000387875:p.Ala201Thr						p.A201T	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	761	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	201			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.601G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	15.80	2.940504	0.52972	.	.	ENSG00000226650	ENST00000435029	T	0.74632	-0.86	1.61	0.684	0.18003	Kinesin, motor domain (4);	.	.	.	.	D	0.82628	0.5078	M	0.90425	3.115	0.40741	D	0.98283	P	0.41947	0.766	P	0.54100	0.742	T	0.80961	-0.1148	9	0.87932	D	0	.	5.7429	0.18104	0.1978:0.0:0.8022:0.0	.	201	Q2VIQ3	KIF4B_HUMAN	T	201	ENSP00000387875:A201T	ENSP00000387875:A201T	A	+	1	0	KIF4B	154374213	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	4.915000	0.63355	0.243000	0.21327	0.563000	0.77884	GCC		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			11	100	0	0	0	1	0	11	100				
NACAP1	83955	broad.mit.edu	37	8	102381499	102381499	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:102381499T>G	ENST00000419462.1	+	0	911					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		CCTACATGGTTTTTGGGGAAG	0.418																																						ENST00000419462.1																			0																																																			0							g.chr8:102381499T>G	AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381499T>G								NR_002182.1						0	911	+									RNA	SNP	ENST00000419462.1	37																																																																																						0.418	NACAP1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000380521.1	NR_002182		41	60	0	0	0	1	0	41	60				
ESPNP	284729	broad.mit.edu	37	1	17033869	17033869	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17033869C>T	ENST00000492551.1	-	0	609					NR_026567.1				espin pseudogene																		CCGTCGCGGTCGCGGACTTCC	0.706																																						ENST00000492551.1																			0																																																			0							g.chr1:17033869C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17033869C>T								NR_026567.1						0	609	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.706	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	49	0	0	0	1	0	5	49				
TTK	7272	broad.mit.edu	37	6	80737720	80737720	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80737720A>C	ENST00000369798.2	+	13	1624	c.1513A>C	c.(1513-1515)Aat>Cat	p.N505H	TTK_ENST00000230510.3_Missense_Mutation_p.N504H|TTK_ENST00000509894.1_Missense_Mutation_p.N504H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	505					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	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)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TCCACTTCAAAATTTACAGGT	0.373																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1510-1512)Aat>Cat		TTK protein kinase							89.0	84.0	86.0					6																	80737720		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80737720A>C		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1513A>C	6.37:g.80737720A>C	ENSP00000358813:p.Asn505His					TTK_ENST00000230510.3_Missense_Mutation_p.N504H|TTK_ENST00000369798.2_Missense_Mutation_p.N505H	p.N504H			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	13	2339	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	505					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1510A>C	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	3.437	-0.114973	0.06881	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.68765	-0.33;-0.33;-0.35	5.99	2.23	0.28157	.	1.131700	0.06226	N	0.687816	T	0.27697	0.0681	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.21861	-1.0233	10	0.40728	T	0.16	.	6.9415	0.24496	0.6412:0.2856:0.0732:0.0	.	505;504	P33981;A8K8U5	TTK_HUMAN;.	H	504;504;505	ENSP00000422936:N504H;ENSP00000230510:N504H;ENSP00000358813:N505H	ENSP00000230510:N504H	N	+	1	0	TTK	80794439	0.066000	0.20996	0.003000	0.11579	0.005000	0.04900	2.808000	0.47963	0.146000	0.19002	-0.316000	0.08728	AAT		0.373	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			12	35	0	0	0	1	0	12	35				
CCDC129	223075	broad.mit.edu	37	7	31617627	31617627	+	Missense_Mutation	SNP	G	G	A	rs201901788	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31617627G>A	ENST00000407970.3	+	8	787	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	CCDC129_ENST00000451887.2_Missense_Mutation_p.R276Q|CCDC129_ENST00000409210.1_Missense_Mutation_p.R158Q|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	250										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAAGAGCATCGAAGAAGAATG	0.483													g|||	6	0.00119808	0.0038	0.0	5008	,	,		20983	0.001		0.0	False		,,,				2504	0.0					ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(472-474)cGa>cAa		coiled-coil domain containing 129		A	GLN/ARG	15,4391	22.3+/-47.3	0,15,2188	70.0	65.0	67.0		749	-11.5	0.0	7		67	0,8600		0,0,4300	yes	missense	CCDC129	NM_194300.2	43	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	benign	250/1045	31617627	15,12991	2203	4300	6503	SO:0001583	missense	223075							g.chr7:31617627G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.749G>A	7.37:g.31617627G>A	ENSP00000384416:p.Arg250Gln					CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.R250Q|CCDC129_ENST00000451887.2_Missense_Mutation_p.R276Q	p.R158Q			Q6ZRS4	CC129_HUMAN			6	657	+			250					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.473G>A	CCDS5435.2	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	g	11.40	1.627104	0.28978	0.003404	0.0	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.19250	2.41;2.39;2.16	5.77	-11.5	0.00074	.	.	.	.	.	T	0.10423	0.0255	L	0.27053	0.805	0.09310	N	1	B;B;B	0.23891	0.093;0.033;0.033	B;B;B	0.13407	0.009;0.009;0.009	T	0.16129	-1.0413	8	.	.	.	-3.4394	11.3205	0.49419	0.6504:0.1562:0.1934:0.0	.	276;260;250	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	Q	250;276;260;158	ENSP00000384416:R250Q;ENSP00000395835:R276Q;ENSP00000387214:R158Q	.	R	+	2	0	CCDC129	31584152	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.859000	0.01657	-2.602000	0.00450	-0.215000	0.12644	CGA		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		10	24	0	0	0	1	0	10	24				
VPS53	55275	broad.mit.edu	37	17	465979	465979	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:465979G>A	ENST00000571805.1	-	14	1456	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Silent_p.L411L|VPS53_ENST00000437048.2_Silent_p.L440L|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Silent_p.L163L|VPS53_ENST00000446250.2_Silent_p.L242L			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	440					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCAGCTCTCCGAGGTTCCTAG	0.468																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1318-1320)ctC>ctT		vacuolar protein sorting 53 homolog (S. cerevisiae)							46.0	45.0	45.0					17																	465979		2203	4300	6503	SO:0001819	synonymous_variant	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:465979G>A		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1320C>T	17.37:g.465979G>A						VPS53_ENST00000291074.5_Silent_p.L411L|VPS53_ENST00000571805.1_Silent_p.L440L|VPS53_ENST00000446250.2_Silent_p.L242L|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Silent_p.L163L	p.L440L	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	14	1466	-			440					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37	c.1320C>T																																																																																					0.468	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		21	34	0	0	0	1	0	21	34				
SCN1A	6323	broad.mit.edu	37	2	166911148	166911148	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166911148G>A	ENST00000303395.4	-	4	601	c.602C>T	c.(601-603)gCg>gTg	p.A201V	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Splice_Site_p.A201V|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Splice_Site_p.A201V|SCN1A_ENST00000423058.2_Splice_Site_p.A201V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	201					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGCACTTACGCAAATGTAAT	0.343																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.e4+1		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						62.0	64.0	63.0					2																	166911148		2203	4299	6502	SO:0001630	splice_region_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166911148G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.602+1C>T	2.37:g.166911148G>A						AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Splice_Site_p.A201_splice|SCN1A_ENST00000375405.3_Splice_Site_p.A201_splice|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Splice_Site_p.A201_splice	p.A201_splice	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			4	619	-			201					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Splice_Site	SNP	ENST00000303395.4	37	c.602_splice	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464873	0.96257	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.99375	0.9780	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.974;0.994;0.989	D	0.98545	1.0634	9	.	.	.	.	19.1745	0.93599	0.0:0.0:1.0:0.0	.	201;201;201	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	201	ENSP00000407030:A201V;ENSP00000303540:A201V;ENSP00000364554:A201V;ENSP00000386312:A201V	.	A	-	2	0	SCN1A	166619394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.748000	0.98867	2.597000	0.87782	0.561000	0.74099	GCG		0.343	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	Missense_Mutation	10	27	0	0	0	1	0	10	27				
ADAM15	8751	broad.mit.edu	37	1	155023920	155023920	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155023920T>C	ENST00000356955.2	+	1	159	c.58T>C	c.(58-60)Tcc>Ccc	p.S20P	ADAM15_ENST00000360674.4_Missense_Mutation_p.S20P|ADAM15_ENST00000368410.2_Missense_Mutation_p.S20P|ADAM15_ENST00000368412.3_Missense_Mutation_p.S20P|ADAM15_ENST00000368413.1_Missense_Mutation_p.S20P|ADAM15_ENST00000531455.1_Missense_Mutation_p.S20P|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000359280.4_Missense_Mutation_p.S20P|ADAM15_ENST00000447332.3_Missense_Mutation_p.S20P|ADAM15_ENST00000355956.2_Missense_Mutation_p.S20P|ADAM15_ENST00000271836.6_Missense_Mutation_p.S20P|ADAM15_ENST00000449910.2_Missense_Mutation_p.S20P	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	20					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCTCTGCCTTCCTGGCCGCT	0.701																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(58-60)Tcc>Ccc		ADAM metallopeptidase domain 15							5.0	7.0	6.0					1																	155023920		2121	4198	6319	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155023920T>C	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.58T>C	1.37:g.155023920T>C	ENSP00000349436:p.Ser20Pro					ADAM15_ENST00000368413.1_Missense_Mutation_p.S20P|ADAM15_ENST00000531455.1_Missense_Mutation_p.S20P|ADAM15_ENST00000368412.3_Missense_Mutation_p.S20P|ADAM15_ENST00000447332.3_Missense_Mutation_p.S20P|ADAM15_ENST00000359280.4_Missense_Mutation_p.S20P|ADAM15_ENST00000368410.2_Missense_Mutation_p.S20P|ADAM15_ENST00000271836.6_Missense_Mutation_p.S20P|ADAM15_ENST00000360674.4_Missense_Mutation_p.S20P|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.S20P|ADAM15_ENST00000449910.2_Missense_Mutation_p.S20P	p.S20P	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		1	159	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		20					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.58T>C	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208827	0.58343	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.03441	5.66;5.65;5.65;5.56;5.46;5.66;3.93;5.63;3.94;5.69	4.56	4.56	0.56223	.	0.000000	0.37955	N	0.001874	T	0.03871	0.0109	L	0.27053	0.805	0.22581	N	0.998967	D;D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.999;0.999;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D;D	0.80764	0.987;0.987;0.987;0.994;0.994;0.994;0.994;0.994;0.994;0.987	T	0.34850	-0.9812	10	0.54805	T	0.06	.	10.2863	0.43568	0.0:0.0:0.0:1.0	.	20;20;20;20;20;20;20;20;20;20	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	P	20	ENSP00000349436:S20P;ENSP00000403843:S20P;ENSP00000352226:S20P;ENSP00000353892:S20P;ENSP00000357397:S20P;ENSP00000348227:S20P;ENSP00000357395:S20P;ENSP00000271836:S20P;ENSP00000357398:S20P;ENSP00000432927:S20P	ENSP00000271836:S20P	S	+	1	0	ADAM15	153290544	0.479000	0.25925	0.995000	0.50966	0.544000	0.35116	1.291000	0.33330	1.700000	0.51204	0.260000	0.18958	TCC		0.701	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		5	7	0	0	0	1	0	5	7				
OR5M8	219484	broad.mit.edu	37	11	56258050	56258050	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56258050G>T	ENST00000327216.2	-	1	821	c.797C>A	c.(796-798)tCt>tAt	p.S266Y		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S266C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CTGTTCAACAGATTCCTTTGA	0.378																																						ENST00000327216.2																			1	Substitution - Missense(1)	p.S266C(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(796-798)tCt>tAt		olfactory receptor, family 5, subfamily M, member 8							43.0	48.0	46.0					11																	56258050		2201	4295	6496	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258050G>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.797C>A	11.37:g.56258050G>T	ENSP00000323354:p.Ser266Tyr						p.S266Y	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	821	-	Esophageal squamous(21;0.00352)		266					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.797C>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.658397	0.29425	.	.	ENSG00000181371	ENST00000327216	T	0.00277	8.34	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	U	0.001820	T	0.00754	0.0025	M	0.87381	2.88	0.09310	N	1	D	0.71674	0.998	D	0.70487	0.969	T	0.31364	-0.9946	10	0.87932	D	0	-28.1087	14.6945	0.69110	0.0:0.0:1.0:0.0	.	266	Q8NGP6	OR5M8_HUMAN	Y	266	ENSP00000323354:S266Y	ENSP00000323354:S266Y	S	-	2	0	OR5M8	56014626	0.004000	0.15560	0.891000	0.34965	0.128000	0.20619	1.076000	0.30729	2.104000	0.64026	0.567000	0.79289	TCT		0.378	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		6	41	1	0	0.0381472	1	0.0387537	6	41				
PSG6	5675	broad.mit.edu	37	19	43411078	43411078	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:43411078G>T	ENST00000292125.2	-	5	1280	c.1236C>A	c.(1234-1236)gtC>gtA	p.V412V	PSG6_ENST00000402603.4_Silent_p.V319V|PSG6_ENST00000187910.2_Silent_p.V412V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	412					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACTTACCAGAGACTTTGACTA	0.443																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1234-1236)gtC>gtA		pregnancy specific beta-1-glycoprotein 6							188.0	195.0	193.0					19																	43411078		2201	4299	6500	SO:0001819	synonymous_variant	5675							g.chr19:43411078G>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1236C>A	19.37:g.43411078G>T						PSG6_ENST00000402603.4_Silent_p.V319V|PSG6_ENST00000292125.2_Silent_p.V412V	p.V412V	NM_001031850.3	NP_001027020.1					5	1301	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.1236C>A	CCDS12613.1																																																																																				0.443	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		102	197	1	0	3.78979e-47	1	5.49226e-47	102	197				
SLC6A20	54716	broad.mit.edu	37	3	45817310	45817310	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45817310G>A	ENST00000358525.4	-	4	640	c.525C>T	c.(523-525)ctC>ctT	p.L175L	SLC6A20_ENST00000456124.2_Silent_p.L175L|SLC6A20_ENST00000353278.4_Silent_p.L175L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	175					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCCAGGCCAGGAGGAGGCACA	0.637																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(523-525)ctC>ctT		solute carrier family 6 (proline IMINO transporter), member 20							120.0	109.0	113.0					3																	45817310		2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45817310G>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.525C>T	3.37:g.45817310G>A						SLC6A20_ENST00000353278.4_Silent_p.L175L|SLC6A20_ENST00000456124.2_Silent_p.L175L	p.L175L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	4	640	-			175					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.525C>T	CCDS43077.1																																																																																				0.637	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		45	47	0	0	0	1	0	45	47				
THEMIS	387357	broad.mit.edu	37	6	128134152	128134152	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:128134152C>A	ENST00000368248.2	-	4	1782	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	THEMIS_ENST00000368250.1_Missense_Mutation_p.R466I|THEMIS_ENST00000543064.1_Missense_Mutation_p.R545I|THEMIS_ENST00000537166.1_Missense_Mutation_p.R510I	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	545					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTTTCATATCTCCGCATCAT	0.458																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1396-1398)aGa>aTa		thymocyte selection associated							106.0	106.0	106.0					6																	128134152		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134152C>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1634G>T	6.37:g.128134152C>A	ENSP00000357231:p.Arg545Ile					THEMIS_ENST00000368248.2_Missense_Mutation_p.R545I|THEMIS_ENST00000537166.1_Missense_Mutation_p.R510I|THEMIS_ENST00000543064.1_Missense_Mutation_p.R545I	p.R466I			Q8N1K5	THMS1_HUMAN			5	1895	-			545			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1397G>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768789	0.69878	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.20200	2.09;2.11;2.09;2.09	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.98	T	0.07462	-1.0771	10	0.87932	D	0	-20.9919	14.4261	0.67218	0.0:0.93:0.0:0.07	.	545;545	F5H1J9;Q8N1K5	.;THMS1_HUMAN	I	466;545;545;510	ENSP00000357233:R466I;ENSP00000439594:R545I;ENSP00000357231:R545I;ENSP00000439863:R510I	ENSP00000357231:R545I	R	-	2	0	THEMIS	128175845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.588000	0.60999	2.793000	0.96121	0.563000	0.77884	AGA		0.458	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		38	57	1	0	1.42033e-22	1	1.97588e-22	38	57				
BEST3	144453	broad.mit.edu	37	12	70048879	70048879	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70048879G>T	ENST00000330891.5	-	10	2041	c.1815C>A	c.(1813-1815)aaC>aaA	p.N605K	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.N499K|BEST3_ENST00000488961.1_Missense_Mutation_p.N392K	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	605					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGGACTTAGGTTTCCCAGGG	0.483																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1813-1815)aaC>aaA		bestrophin 3							79.0	76.0	77.0					12																	70048879		1875	4116	5991	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048879G>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1815C>A	12.37:g.70048879G>T	ENSP00000332413:p.Asn605Lys					BEST3_ENST00000488961.1_Missense_Mutation_p.N392K|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.N499K	p.N605K	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	2041	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		605					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1815C>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571647	0.28003	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97811	-4.21;-4.55;-4.51	5.53	-1.67	0.08238	.	0.568963	0.17790	N	0.161932	D	0.90208	0.6939	N	0.19112	0.55	0.09310	N	0.999995	B;B	0.26672	0.094;0.156	B;B	0.16722	0.01;0.016	T	0.82424	-0.0464	10	0.27785	T	0.31	-2.439	0.2638	0.00222	0.2458:0.2679:0.2084:0.2779	.	605;392	Q8N1M1;B5MDI8	BEST3_HUMAN;.	K	392;605;499	ENSP00000433213:N392K;ENSP00000332413:N605K;ENSP00000449548:N499K	ENSP00000332413:N605K	N	-	3	2	BEST3	68335146	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.117000	0.10708	-0.185000	0.10550	-0.244000	0.11960	AAC		0.483	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		19	41	1	0	1.10923e-09	1	1.34134e-09	19	41				
SRRM4	84530	broad.mit.edu	37	12	119583269	119583269	+	Silent	SNP	C	C	T	rs201517536		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:119583269C>T	ENST00000267260.4	+	9	1243	c.855C>T	c.(853-855)taC>taT	p.Y285Y		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	285	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGGAGTACGACTCAGGAA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14485	0.0		0.0	False		,,,				2504	0.0					ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(853-855)taC>taT		serine/arginine repetitive matrix 4							32.0	36.0	35.0					12																	119583269		2004	4161	6165	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583269C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.855C>T	12.37:g.119583269C>T							p.Y285Y	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			9	1243	+			285			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.855C>T	CCDS44994.1																																																																																				0.607	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		10	9	0	0	0	1	0	10	9				
ILF3	3609	broad.mit.edu	37	19	10794354	10794354	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10794354G>A	ENST00000590261.1	+	15	1894	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	ILF3_ENST00000420083.1_Missense_Mutation_p.E632K|ILF3_ENST00000407004.3_Missense_Mutation_p.E636K|ILF3_ENST00000449870.1_Missense_Mutation_p.E636K|ILF3_ENST00000250241.8_Missense_Mutation_p.E632K|ILF3_ENST00000588657.1_Missense_Mutation_p.E636K|ILF3_ENST00000318511.3_Missense_Mutation_p.E632K|ILF3_ENST00000592763.1_Missense_Mutation_p.E636K|ILF3_ENST00000589998.1_Missense_Mutation_p.E632K			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	632	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CATGCACAACGAAGTGCCCCC	0.622																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1906-1908)Gaa>Aaa		interleukin enhancer binding factor 3, 90kDa							35.0	43.0	40.0					19																	10794354		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10794354G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1894G>A	19.37:g.10794354G>A	ENSP00000468156:p.Glu632Lys					ILF3_ENST00000588657.1_Missense_Mutation_p.E636K|ILF3_ENST00000318511.3_Missense_Mutation_p.E632K|ILF3_ENST00000407004.3_Missense_Mutation_p.E636K|ILF3_ENST00000420083.1_Missense_Mutation_p.E632K|ILF3_ENST00000590261.1_Missense_Mutation_p.E632K|ILF3_ENST00000589998.1_Missense_Mutation_p.E632K|ILF3_ENST00000592763.1_Missense_Mutation_p.E636K|ILF3_ENST00000250241.8_Missense_Mutation_p.E632K	p.E636K	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		16	2223	+			632			Interaction with PRMT1.|Poly-Pro.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1906G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905933	0.92107	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.14766	2.48;2.48;2.49;2.49;2.49	5.84	3.69	0.42338	.	0.272553	0.33980	N	0.004372	T	0.09862	0.0242	L	0.27053	0.805	0.44129	D	0.996918	B;B;B;B;B;B	0.11235	0.004;0.004;0.002;0.001;0.001;0.001	B;B;B;B;B;B	0.09377	0.002;0.004;0.002;0.002;0.002;0.002	T	0.11767	-1.0574	10	0.40728	T	0.16	.	10.0224	0.42051	0.0723:0.0:0.7894:0.1383	.	636;636;632;636;632;632	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	K	632;636;632;632;636;632	ENSP00000404121:E636K;ENSP00000315205:E632K;ENSP00000405436:E632K;ENSP00000384660:E636K;ENSP00000250241:E632K	ENSP00000250241:E632K	E	+	1	0	ILF3	10655354	1.000000	0.71417	0.834000	0.33040	0.996000	0.88848	4.764000	0.62264	0.794000	0.33899	0.655000	0.94253	GAA		0.622	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			21	38	0	0	0	1	0	21	38				
PNMA2	10687	broad.mit.edu	37	8	26365965	26365965	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:26365965G>T	ENST00000522362.2	-	3	1201	c.307C>A	c.(307-309)Ctt>Att	p.L103I	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	103					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aatctttcaagaaactcagtg	0.537																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(307-309)Ctt>Att		paraneoplastic Ma antigen 2							73.0	72.0	72.0					8																	26365965		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365965G>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.307C>A	8.37:g.26365965G>T	ENSP00000429344:p.Leu103Ile						p.L103I	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1201	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	103					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.307C>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243173	0.58995	.	.	ENSG00000240694	ENST00000522362	T	0.14391	2.51	3.9	3.9	0.45041	.	.	.	.	.	T	0.30417	0.0764	L	0.55213	1.73	0.29837	N	0.829557	D	0.63880	0.993	D	0.73708	0.981	T	0.02214	-1.1194	9	0.54805	T	0.06	-21.4868	11.6791	0.51446	0.0:0.0:1.0:0.0	.	103	Q9UL42	PNMA2_HUMAN	I	103	ENSP00000429344:L103I	ENSP00000429344:L103I	L	-	1	0	PNMA2	26421882	1.000000	0.71417	0.994000	0.49952	0.872000	0.50106	3.689000	0.54706	2.458000	0.83093	0.655000	0.94253	CTT		0.537	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		25	36	1	0	1.10923e-09	1	1.34134e-09	25	36				
DNAJC10	54431	broad.mit.edu	37	2	183621136	183621136	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183621136C>A	ENST00000264065.7	+	18	2164	c.1749C>A	c.(1747-1749)ttC>ttA	p.F583L		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	583	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGTTGATTTCTATTCTCCGT	0.388																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1747-1749)ttC>ttA		DnaJ (Hsp40) homolog, subfamily C, member 10							112.0	101.0	105.0					2																	183621136		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183621136C>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1749C>A	2.37:g.183621136C>A	ENSP00000264065:p.Phe583Leu						p.F583L	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		18	2164	+			583			Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1749C>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717417	0.89205	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.07688	3.17	6.17	3.02	0.34903	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.37572	-0.9700	10	0.72032	D	0.01	.	12.6598	0.56808	0.0:0.7931:0.0:0.2069	.	537;583	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	L	583;537	ENSP00000264065:F583L	ENSP00000264065:F583L	F	+	3	2	DNAJC10	183329381	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.825000	0.55730	0.942000	0.37525	-0.140000	0.14226	TTC		0.388	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		9	41	1	0	3.09899e-07	1	3.54467e-07	9	41				
IGSF5	150084	broad.mit.edu	37	21	41151135	41151135	+	Silent	SNP	G	G	A	rs200284688		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41151135G>A	ENST00000380588.4	+	5	940	c.837G>A	c.(835-837)ccG>ccA	p.P279P	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	279					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTCTGACGCCGACGTGTACTC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		16364	0.001		0.0	False		,,,				2504	0.0					ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(835-837)ccG>ccA		immunoglobulin superfamily, member 5							107.0	98.0	101.0					21																	41151135		2203	4300	6503	SO:0001819	synonymous_variant	150084					integral to membrane|tight junction		g.chr21:41151135G>A		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.837G>A	21.37:g.41151135G>A						IGSF5_ENST00000479378.1_3'UTR	p.P279P	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			5	940	+		Prostate(19;5.35e-06)	279						Silent	SNP	ENST00000380588.4	37	c.837G>A	CCDS33562.1																																																																																				0.483	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			26	41	0	0	0	1	0	26	41				
ATP11B	23200	broad.mit.edu	37	3	182591616	182591616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:182591616C>T	ENST00000323116.5	+	19	2325	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	689					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATAAAGTTCGAGAAACTAT	0.323																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(2065-2067)Cga>Tga		ATPase, class VI, type 11B							88.0	85.0	86.0					3																	182591616		2203	4300	6503	SO:0001587	stop_gained	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182591616C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2065C>T	3.37:g.182591616C>T	ENSP00000321195:p.Arg689*						p.R689*	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		19	2325	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		689					Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	ENST00000323116.5	37	c.2065C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	43	10.411343	0.99400	.	.	ENSG00000058063	ENST00000323116	.	.	.	5.78	3.76	0.43208	.	0.125952	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	16.2942	0.82762	0.2521:0.7479:0.0:0.0	.	.	.	.	X	689	.	ENSP00000321195:R689X	R	+	1	2	ATP11B	184074310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.971000	0.49248	1.389000	0.46526	0.655000	0.94253	CGA		0.323	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		17	30	0	0	0	1	0	17	30				
TRA2B	6434	broad.mit.edu	37	3	185643396	185643396	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:185643396G>A	ENST00000453386.2	-	3	464	c.189C>T	c.(187-189)agC>agT	p.S63S	TRA2B_ENST00000471134.1_5'Flank|TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	63	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GCCTTCGGGAGCTTCTTCTGG	0.458																																						ENST00000453386.2																			0				breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						c.(187-189)agC>agT		transformer 2 beta homolog (Drosophila)							96.0	94.0	94.0					3																	185643396		2203	4300	6503	SO:0001819	synonymous_variant	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185643396G>A	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.189C>T	3.37:g.185643396G>A						TRA2B_ENST00000382191.4_5'UTR	p.S63S	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN			3	464	-			63			Arg/Ser-rich (RS1 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Silent	SNP	ENST00000453386.2	37	c.189C>T	CCDS33905.1																																																																																				0.458	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		15	31	0	0	0	1	0	15	31				
ZNF808	388558	broad.mit.edu	37	19	53057257	53057257	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53057257G>T	ENST00000359798.4	+	5	1268	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R363T(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CGCCATCAAAGACTTCATACT	0.383																																						ENST00000359798.4																			1	Substitution - Missense(1)	p.R363T(1)	urinary_tract(1)	endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1087-1089)aGa>aTa		zinc finger protein 808							96.0	101.0	99.0					19																	53057257		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057257G>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1088G>T	19.37:g.53057257G>T	ENSP00000352846:p.Arg363Ile						p.R363I	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1268	+			363					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1088G>T	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	12.57	1.978651	0.34942	.	.	ENSG00000198482	ENST00000359798	T	0.24908	1.83	1.5	0.0709	0.14380	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33440	0.0863	M	0.67397	2.05	0.33613	D	0.603762	D	0.55172	0.97	P	0.54759	0.76	T	0.50154	-0.8861	9	0.51188	T	0.08	.	4.0964	0.09993	0.1821:0.247:0.5709:0.0	.	363	Q8N4W9	ZN808_HUMAN	I	363	ENSP00000352846:R363I	ENSP00000352846:R363I	R	+	2	0	ZNF808	57749069	0.000000	0.05858	0.052000	0.19188	0.063000	0.16089	-4.040000	0.00307	0.798000	0.33994	0.195000	0.17529	AGA		0.383	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		6	96	1	0	0.00198382	1	0.00207034	6	96				
ASPM	259266	broad.mit.edu	37	1	197073886	197073886	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197073886G>A	ENST00000367409.4	-	18	4751	c.4495C>T	c.(4495-4497)Cgg>Tgg	p.R1499W	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1499					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAAGCACCGAAATCTTTTC	0.313																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(4495-4497)Cgg>Tgg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							76.0	74.0	75.0					1																	197073886		2202	4297	6499	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073886G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4495C>T	1.37:g.197073886G>A	ENSP00000356379:p.Arg1499Trp					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.R1499W	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	4751	-			1499					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4495C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206169	0.58343	.	.	ENSG00000066279	ENST00000367409	D	0.84589	-1.87	5.51	3.36	0.38483	.	0.000000	0.64402	D	0.000001	D	0.94735	0.8301	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95443	0.8527	10	0.87932	D	0	.	13.0363	0.58875	0.0:0.0:0.4678:0.5322	.	1499	Q8IZT6	ASPM_HUMAN	W	1499	ENSP00000356379:R1499W	ENSP00000356379:R1499W	R	-	1	2	ASPM	195340509	0.993000	0.37304	1.000000	0.80357	0.888000	0.51559	2.662000	0.46766	0.767000	0.33267	0.585000	0.79938	CGG		0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	23	0	0	0	1	0	12	23				
EVPLL	645027	broad.mit.edu	37	17	18284997	18284997	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18284997G>A	ENST00000399134.4	+	4	657	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	100										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTGCCGCCCCGACGTGGGATC	0.607																																						ENST00000399134.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(298-300)cGa>cAa		envoplakin-like							110.0	101.0	104.0					17																	18284997		692	1591	2283	SO:0001583	missense	645027							g.chr17:18284997G>A		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.299G>A	17.37:g.18284997G>A	ENSP00000382086:p.Arg100Gln					RP1-37N7.1_ENST00000579352.1_RNA	p.R100Q	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN			4	657	+			100					B4DPD4	Missense_Mutation	SNP	ENST00000399134.4	37	c.299G>A	CCDS45626.1	.	.	.	.	.	.	.	.	.	.	.	3.420	-0.118350	0.06838	.	.	ENSG00000214860	ENST00000399134	T	0.16457	2.34	.	.	.	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	D	0.52996	0.957	B	0.25884	0.064	T	0.25012	-1.0144	8	0.12430	T	0.62	.	4.0754	0.09901	1.0E-4:0.4558:0.5441:1.0E-4	.	100	A8MZ36	EVPLL_HUMAN	Q	100	ENSP00000382086:R100Q	ENSP00000382086:R100Q	R	+	2	0	EVPLL	18225722	0.012000	0.17670	0.958000	0.39756	0.212000	0.24457	0.764000	0.26532	0.432000	0.26286	0.074000	0.15403	CGA		0.607	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		16	41	0	0	0	1	0	16	41				
DSCAM	1826	broad.mit.edu	37	21	41710160	41710160	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41710160C>T	ENST00000400454.1	-	8	2128	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	551	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAAATGCCACTTGGCGGTGG	0.458																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1651-1653)Gtg>Atg		Down syndrome cell adhesion molecule							172.0	162.0	165.0					21																	41710160		1949	4142	6091	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710160C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1651G>A	21.37:g.41710160C>T	ENSP00000383303:p.Val551Met						p.V551M	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			8	2128	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	551			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1651G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658680	0.67586	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.70164	-0.46;-0.46	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.145437	0.47455	D	0.000221	T	0.72137	0.3423	L	0.39245	1.2	0.39951	D	0.974546	D	0.57257	0.979	P	0.55222	0.771	T	0.70883	-0.4751	10	0.39692	T	0.17	.	19.9703	0.97284	0.0:1.0:0.0:0.0	.	551	O60469	DSCAM_HUMAN	M	551;303	ENSP00000383303:V551M;ENSP00000385342:V303M	ENSP00000383303:V551M	V	-	1	0	DSCAM	40632030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.293000	0.51779	2.723000	0.93209	0.655000	0.94253	GTG		0.458	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		26	68	0	0	0	1	0	26	68				
CCDC88A	55704	broad.mit.edu	37	2	55561822	55561822	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:55561822G>T	ENST00000436346.1	-	15	2976	c.2135C>A	c.(2134-2136)tCt>tAt	p.S712Y	AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S712Y|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S712Y|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S712Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	712					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACACTTCAAAGATTCTACATT	0.378																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(2134-2136)tCt>tAt		coiled-coil domain containing 88A							88.0	90.0	89.0					2																	55561822		2202	4299	6501	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561822G>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2135C>A	2.37:g.55561822G>T	ENSP00000410608:p.Ser712Tyr					AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S712Y|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S712Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S712Y|AC012358.8_ENST00000599475.1_RNA	p.S712Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			15	2976	-			712					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2135C>A		.	.	.	.	.	.	.	.	.	.	G	16.54	3.151911	0.57151	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.16073	2.37;2.66;2.6;2.39	4.9	4.9	0.64082	.	0.000000	0.47852	U	0.000210	T	0.39436	0.1078	L	0.55990	1.75	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.83275	0.921;0.996;0.974	T	0.15464	-1.0436	10	0.59425	D	0.04	-6.3082	18.4293	0.90619	0.0:0.0:1.0:0.0	.	712;712;712	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Y	712	ENSP00000338728:S712Y;ENSP00000263630:S712Y;ENSP00000410608:S712Y;ENSP00000404431:S712Y	ENSP00000263630:S712Y	S	-	2	0	CCDC88A	55415326	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	5.764000	0.68826	2.421000	0.82119	0.462000	0.41574	TCT		0.378	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		17	34	1	0	2.48551e-13	1	3.17925e-13	17	34				
HEATR1	55127	broad.mit.edu	37	1	236748338	236748338	+	Missense_Mutation	SNP	A	A	C	rs141347838	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:236748338A>C	ENST00000366582.3	-	17	2342	c.2228T>G	c.(2227-2229)gTc>gGc	p.V743G	HEATR1_ENST00000366581.2_Missense_Mutation_p.V743G	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	743					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCAGTAATGACACTTTCAAG	0.388																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2227-2229)gTc>gGc		HEAT repeat containing 1							85.0	87.0	87.0					1																	236748338		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236748338A>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2228T>G	1.37:g.236748338A>C	ENSP00000355541:p.Val743Gly					HEATR1_ENST00000366581.2_Missense_Mutation_p.V743G	p.V743G	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		17	2342	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	743					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2228T>G	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.866286	0.32977	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.05925	3.4;3.37	5.93	4.82	0.62117	Armadillo-type fold (1);	0.593009	0.17759	N	0.162962	T	0.08447	0.0210	L	0.51422	1.61	0.28055	N	0.933198	B	0.29341	0.242	B	0.30646	0.118	T	0.11494	-1.0585	10	0.72032	D	0.01	.	9.8079	0.40803	0.9231:0.0:0.0769:0.0	.	743	Q9H583	HEAT1_HUMAN	G	743	ENSP00000355541:V743G;ENSP00000355540:V743G	ENSP00000355540:V743G	V	-	2	0	HEATR1	234814961	0.201000	0.23410	0.409000	0.26459	0.110000	0.19582	2.230000	0.42999	1.082000	0.41137	0.482000	0.46254	GTC		0.388	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		3	27	0	0	0	1	0	3	27				
COL4A5	1287	broad.mit.edu	37	X	107936062	107936062	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107936062G>T	ENST00000361603.2	+	48	4839	c.4595G>T	c.(4594-4596)aGa>aTa	p.R1532I	COL4A5_ENST00000328300.6_Missense_Mutation_p.R1538I	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1532	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTGCTTCAAGAAATGACTAT	0.483									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4612-4614)aGa>aTa		collagen, type IV, alpha 5							123.0	98.0	106.0					X																	107936062		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107936062G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4595G>T	X.37:g.107936062G>T	ENSP00000354505:p.Arg1532Ile					COL4A5_ENST00000361603.2_Missense_Mutation_p.R1532I	p.R1538I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			50	4857	+			1532		W -> S (in APSX; adult type).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4613G>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134333	0.94517	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186;ENST00000504541	D;D;D	0.87966	-2.32;-2.32;-2.32	5.73	5.73	0.89815	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97166	0.9841	10	0.87932	D	0	.	18.9275	0.92550	0.0:0.0:1.0:0.0	.	1535;1532	E7EVY4;P29400	.;CO4A5_HUMAN	I	1538;1532;1538;4	ENSP00000331902:R1538I;ENSP00000354505:R1532I;ENSP00000424845:R4I	ENSP00000331902:R1538I	R	+	2	0	COL4A5	107822718	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.418000	0.82041	0.538000	0.68166	AGA		0.483	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			32	50	1	0	9.65021e-13	1	1.22324e-12	32	50				
AFAP1	60312	broad.mit.edu	37	4	7844978	7844978	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:7844978T>C	ENST00000360265.4	-	4	668	c.434A>G	c.(433-435)gAg>gGg	p.E145G	AFAP1_ENST00000358461.2_Missense_Mutation_p.E145G|AFAP1_ENST00000382543.3_Missense_Mutation_p.E145G|AFAP1_ENST00000420658.1_Missense_Mutation_p.E145G			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	145						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CATGGAGGCCTCCTCGGAGGG	0.562																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(433-435)gAg>gGg		actin filament associated protein 1							86.0	78.0	81.0					4																	7844978		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7844978T>C	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.434A>G	4.37:g.7844978T>C	ENSP00000353402:p.Glu145Gly					AFAP1_ENST00000382543.3_Missense_Mutation_p.E145G|AFAP1_ENST00000360265.4_Missense_Mutation_p.E145G|AFAP1_ENST00000358461.2_Missense_Mutation_p.E145G	p.E145G	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			5	706	-			145					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.434A>G	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.719332	0.89205	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.986	T	0.19321	-1.0309	10	0.87932	D	0	-34.6298	13.6529	0.62320	0.0:0.0:0.0:1.0	.	145;145	E9PDT7;Q8N556	.;AFAP1_HUMAN	G	145	ENSP00000353402:E145G;ENSP00000410689:E145G;ENSP00000351245:E145G;ENSP00000371983:E145G	ENSP00000351245:E145G	E	-	2	0	AFAP1	7895878	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.415000	0.80131	1.648000	0.50643	0.397000	0.26171	GAG		0.562	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		8	25	0	0	0	1	0	8	25				
LRBA	987	broad.mit.edu	37	4	151821337	151821337	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151821337C>T	ENST00000357115.3	-	14	2031	c.1788G>A	c.(1786-1788)acG>acA	p.T596T	LRBA_ENST00000507224.1_Silent_p.T596T|LRBA_ENST00000535741.1_Silent_p.T596T|LRBA_ENST00000510413.1_Silent_p.T596T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	596						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAATGAATTCCGTGGACAGAT	0.408																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1786-1788)acG>acA		LPS-responsive vesicle trafficking, beach and anchor containing							115.0	107.0	110.0					4																	151821337		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151821337C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1788G>A	4.37:g.151821337C>T						LRBA_ENST00000510413.1_Silent_p.T596T|LRBA_ENST00000507224.1_Silent_p.T596T|LRBA_ENST00000357115.3_Silent_p.T596T	p.T596T			P50851	LRBA_HUMAN			14	2261	-	all_hematologic(180;0.151)		596					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.1788G>A	CCDS3773.1																																																																																				0.408	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			14	27	0	0	0	1	0	14	27				
PRIM2	5558	broad.mit.edu	37	6	57183336	57183336	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57183336G>A	ENST00000607273.1	+	2	180	c.93G>A	c.(91-93)caG>caA	p.Q31Q	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	31					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTACTTGCAGCCACCTTCTG	0.368																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(91-93)caG>caA		primase, DNA, polypeptide 2 (58kDa)							49.0	47.0	48.0					6																	57183336		1867	4103	5970	SO:0001819	synonymous_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57183336G>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.93G>A	6.37:g.57183336G>A						PRIM2_ENST00000389488.2_3'UTR	p.Q31Q	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	2	180	+			31					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37	c.93G>A																																																																																					0.368	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		4	8	0	0	0	1	0	4	8				
TAF3	83860	broad.mit.edu	37	10	8007600	8007600	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:8007600G>A	ENST00000344293.5	+	3	2333	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	709	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aggagaagaagaaaaagaagg	0.413																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(2125-2127)aaG>aaA		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							18.0	18.0	18.0					10																	8007600		1858	4079	5937	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007600G>A	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2127G>A	10.37:g.8007600G>A							p.K709K	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	2333	+			709			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.2127G>A	CCDS41487.1																																																																																				0.413	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		10	18	0	0	0	1	0	10	18				
CDRT1	374286	broad.mit.edu	37	17	15519060	15519060	+	Missense_Mutation	SNP	G	G	A	rs372782740		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15519060G>A	ENST00000395906.3	-	2	568	c.569C>T	c.(568-570)gCg>gTg	p.A190V	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.A500V	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	190										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTGTGAGGTCGCAGACTTGGA	0.478																																						ENST00000455584.2																			0											c.(1498-1500)gCg>gTg				G	VAL/ALA	0,4402		0,0,2201	53.0	54.0	54.0		569	-1.7	0.0	17		54	2,8554	1.2+/-3.3	0,2,4276	no	missense	CDRT1	NM_006382.3	64	0,2,6477	AA,AG,GG		0.0234,0.0,0.0154	benign	190/753	15519060	2,12956	2201	4278	6479	SO:0001583	missense	0							g.chr17:15519060G>A	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.569C>T	17.37:g.15519060G>A	ENSP00000379242:p.Ala190Val					CDRT1_ENST00000395906.3_Missense_Mutation_p.A190V	p.A500V							8	1542	-								O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	c.1499C>T	CCDS45619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.970|3.970	-0.008637|-0.008637	0.07727|0.07727	0.0|0.0	2.34E-4|2.34E-4	ENSG00000251537|ENSG00000251537	ENST00000261644;ENST00000395906|ENST00000455584	T|.	0.22743|.	1.94|.	3.68|3.68	-1.66|-1.66	0.08265|0.08265	.|.	0.785067|.	0.11328|.	U|.	0.575340|.	T|.	0.27278|.	0.0669|.	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.001|.	B;B|.	0.06405|.	0.002;0.0|.	T|.	0.29518|.	-1.0009|.	10|.	0.30078|.	T|.	0.28|.	.|.	8.2511|8.2511	0.31717|0.31717	0.1442:0.0:0.594:0.2618|0.1442:0.0:0.594:0.2618	.|.	190;514|.	O95170;Q59EB2|.	CDRT1_HUMAN;.|.	V|X	190|515	ENSP00000379242:A190V|.	ENSP00000261644:A190V|.	A|R	-|-	2|1	0|2	RP11-385D13.1|RP11-385D13.1	15459785|15459785	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	0.167000|0.167000	0.16602|0.16602	-0.685000|-0.685000	0.05177|0.05177	-2.628000|-2.628000	0.00155|0.00155	GCG|CGA		0.478	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		5	33	0	0	0	1	0	5	33				
CAND1	55832	broad.mit.edu	37	12	67700159	67700159	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:67700159A>C	ENST00000545606.1	+	10	3148	c.2711A>C	c.(2710-2712)aAa>aCa	p.K904T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	904					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGTCAACCCAAAAGGCAGTAT	0.413																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2710-2712)aAa>aCa		cullin-associated and neddylation-dissociated 1							80.0	76.0	77.0					12																	67700159		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67700159A>C		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2711A>C	12.37:g.67700159A>C	ENSP00000442318:p.Lys904Thr						p.K904T	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	3148	+			904					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.2711A>C	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422303	0.62622	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.20463	2.07;2.07	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.96	D;P	0.83275	0.996;0.698	T	0.49173	-0.8967	9	.	.	.	-15.7094	15.8576	0.78994	1.0:0.0:0.0:0.0	.	736;904	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	T	904;904;444	ENSP00000442318:K904T;ENSP00000444089:K444T	.	K	+	2	0	CAND1	65986426	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.264000	0.95635	2.144000	0.66660	0.482000	0.46254	AAA		0.413	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		14	18	0	0	0	1	0	14	18				
BCAR3	8412	broad.mit.edu	37	1	94032978	94032978	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94032978G>A	ENST00000370244.1	-	13	2445	c.2157C>T	c.(2155-2157)cgC>cgT	p.R719R	BCAR3_ENST00000370243.1_Silent_p.R719R|BCAR3_ENST00000539242.1_Silent_p.R395R|BCAR3_ENST00000370247.3_Silent_p.R628R|BCAR3_ENST00000260502.6_Silent_p.R719R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	719	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCACAGCCTGGCGCTCCATTA	0.483																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2155-2157)cgC>cgT		breast cancer anti-estrogen resistance 3							136.0	124.0	128.0					1																	94032978		2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94032978G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2157C>T	1.37:g.94032978G>A						BCAR3_ENST00000260502.6_Silent_p.R719R|BCAR3_ENST00000370247.3_Silent_p.R628R|BCAR3_ENST00000539242.1_Silent_p.R395R|BCAR3_ENST00000370243.1_Silent_p.R719R	p.R719R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	13	2445	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	719			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.2157C>T	CCDS745.1																																																																																				0.483	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			8	53	0	0	0	1	0	8	53				
ARHGEF28	64283	broad.mit.edu	37	5	73163927	73163927	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:73163927T>G	ENST00000426542.2	+	19	2320	c.2300T>G	c.(2299-2301)tTc>tGc	p.F767C	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.F767C|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.F767C|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.F767C|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.F767C|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.F454C|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.F767C			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	767					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TCTCCTAGCTTCAGGAGGTCA	0.522																																						ENST00000545377.1																			0											c.(2299-2301)tTc>tGc		Rho guanine nucleotide exchange factor (GEF) 28							56.0	55.0	55.0					5																	73163927		1958	4152	6110	SO:0001583	missense	64283							g.chr5:73163927T>G		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2300T>G	5.37:g.73163927T>G	ENSP00000412175:p.Phe767Cys					ARHGEF28_ENST00000426542.2_Missense_Mutation_p.F767C|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.F454C|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.F767C|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.F767C|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.F767C|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.F767C	p.F767C	NM_001080479.2	NP_001073948.2					20	2476	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.2300T>G	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901685	0.33535	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.10668	3.07;3.07;3.06;2.85;3.07;3.06;2.89	5.35	2.93	0.34026	.	.	.	.	.	T	0.16041	0.0386	M	0.63428	1.95	0.27191	N	0.960416	P;P;P;D	0.53312	0.947;0.943;0.943;0.959	B;P;P;P	0.49012	0.408;0.525;0.525;0.598	T	0.13872	-1.0493	9	0.87932	D	0	.	5.0012	0.14266	0.0:0.2126:0.2753:0.512	.	454;767;767;767	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	C	767;767;767;767;767;767;454	ENSP00000296794:F767C;ENSP00000441913:F767C;ENSP00000441436:F767C;ENSP00000287898:F767C;ENSP00000411459:F767C;ENSP00000412175:F767C;ENSP00000296799:F454C	ENSP00000287898:F767C	F	+	2	0	RP11-428C6.1	73199683	0.048000	0.20356	0.998000	0.56505	0.285000	0.27093	-0.399000	0.07250	0.336000	0.23639	0.377000	0.23210	TTC		0.522	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			3	18	0	0	0	1	0	3	18				
FBXL17	64839	broad.mit.edu	37	5	107197556	107197556	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:107197556G>A	ENST00000542267.1	-	9	2377	c.1971C>T	c.(1969-1971)aaC>aaT	p.N657N	FBXL17_ENST00000359660.5_Silent_p.N259N	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	657										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CCGTCACTTCGTTGACCTGCA	0.577																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1969-1971)aaC>aaT		F-box and leucine-rich repeat protein 17							101.0	78.0	86.0					5																	107197556		2202	4300	6502	SO:0001819	synonymous_variant	64839							g.chr5:107197556G>A	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1971C>T	5.37:g.107197556G>A						FBXL17_ENST00000359660.5_Silent_p.N259N	p.N657N	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	9	2377	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	657					A1A4E3	Silent	SNP	ENST00000542267.1	37	c.1971C>T	CCDS54886.1																																																																																				0.577	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				17	33	0	0	0	1	0	17	33				
OR7C2	26658	broad.mit.edu	37	19	15052725	15052725	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15052725G>A	ENST00000248072.3	+	1	425	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CGGCTCTGTGGACTGCTGGTT	0.542																																						ENST00000248072.3																			0				large_intestine(3)|lung(8)|ovary(2)|skin(2)	15						c.(424-426)gGa>gAa		olfactory receptor, family 7, subfamily C, member 2							146.0	144.0	145.0					19																	15052725		2203	4300	6503	SO:0001583	missense	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052725G>A	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.425G>A	19.37:g.15052725G>A	ENSP00000248072:p.Gly142Glu						p.G142E	NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN			1	425	+	Ovarian(108;0.203)		142					O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	c.425G>A	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	g	10.90	1.481952	0.26598	.	.	ENSG00000127529	ENST00000248072	T	0.37752	1.18	4.19	-8.38	0.00973	GPCR, rhodopsin-like superfamily (1);	2.522040	0.02685	N	0.110072	T	0.41166	0.1147	M	0.89095	3.005	0.09310	N	1	B	0.21309	0.054	B	0.30316	0.114	T	0.43261	-0.9402	10	0.62326	D	0.03	.	2.2793	0.04110	0.1328:0.2525:0.1978:0.4169	.	142	O60412	OR7C2_HUMAN	E	142	ENSP00000248072:G142E	ENSP00000248072:G142E	G	+	2	0	OR7C2	14913725	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.497000	0.02289	-2.562000	0.00473	-0.413000	0.06143	GGA		0.542	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			52	85	0	0	0	1	0	52	85				
ARSG	22901	broad.mit.edu	37	17	66303753	66303753	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66303753T>C	ENST00000448504.2	+	2	915	c.119T>C	c.(118-120)aTt>aCt	p.I40T	ARSG_ENST00000452479.2_Intron	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	40					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACTTTGTGATTATTTTGGCC	0.473																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(118-120)aTt>aCt		arylsulfatase G							100.0	98.0	99.0					17																	66303753		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66303753T>C	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.119T>C	17.37:g.66303753T>C	ENSP00000407193:p.Ile40Thr					ARSG_ENST00000452479.2_Intron	p.I40T	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	915	+			40					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.119T>C	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500463	0.64298	.	.	ENSG00000141337	ENST00000452479	.	.	.	5.59	5.59	0.84812	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.135869	0.49305	D	0.000159	T	0.79251	0.4414	M	0.85197	2.74	0.80722	D	1	D	0.62365	0.991	D	0.63192	0.912	T	0.83005	-0.0175	9	0.87932	D	0	.	13.7387	0.62833	0.0:0.0:0.0:1.0	.	40	Q96EG1	ARSG_HUMAN	T	40	.	ENSP00000413953:I40T	I	+	2	0	ARSG	63815348	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.195000	0.65131	2.120000	0.65058	0.460000	0.39030	ATT		0.473	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		5	66	0	0	0	1	0	5	66				
SYNPO	11346	broad.mit.edu	37	5	150028210	150028210	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150028210T>C	ENST00000394243.1	+	3	1479	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	SYNPO_ENST00000522122.1_Missense_Mutation_p.S369P|SYNPO_ENST00000307662.4_Missense_Mutation_p.S125P|SYNPO_ENST00000519664.1_Missense_Mutation_p.S125P|SYNPO_ENST00000518872.1_3'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	369					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAACTCCCATCTAATGGCAC	0.572																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(1105-1107)Tct>Cct		synaptopodin							128.0	123.0	125.0					5																	150028210		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150028210T>C	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1105T>C	5.37:g.150028210T>C	ENSP00000377789:p.Ser369Pro					SYNPO_ENST00000522122.1_Missense_Mutation_p.S369P|SYNPO_ENST00000307662.4_Missense_Mutation_p.S125P|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000519664.1_Missense_Mutation_p.S125P	p.S369P	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1479	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	369					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.1105T>C	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.456750	0.01071	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.21932	1.98;1.98;1.99	5.19	-1.54	0.08584	.	0.858328	0.10054	N	0.721806	T	0.05686	0.0149	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.39057	-0.9632	10	0.02654	T	1	-0.0153	5.6278	0.17492	0.0:0.3204:0.4107:0.2689	.	125;369	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	P	369;369;125;125	ENSP00000377789:S369P;ENSP00000428378:S369P;ENSP00000429268:S125P	ENSP00000302139:S125P	S	+	1	0	SYNPO	150008403	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.118000	0.03280	-0.398000	0.07679	-1.235000	0.01560	TCT		0.572	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		29	190	0	0	0	1	0	29	190				
DDI1	414301	broad.mit.edu	37	11	103908701	103908701	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103908701T>A	ENST00000302259.3	+	1	1394	c.1151T>A	c.(1150-1152)aTt>aAt	p.I384N	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	384							aspartic-type endopeptidase activity (GO:0004190)	p.I384S(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GACAAGGAAATTACACATTCA	0.458																																						ENST00000302259.3																			1	Substitution - Missense(1)	p.I384S(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1150-1152)aTt>aAt		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							55.0	55.0	55.0					11																	103908701		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908701T>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1151T>A	11.37:g.103908701T>A	ENSP00000302805:p.Ile384Asn					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.I384N	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1394	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	384					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.1151T>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336403	0.41398	.	.	ENSG00000170967	ENST00000302259	T	0.25749	1.78	4.75	-9.5	0.00584	.	0.719656	0.12617	N	0.453347	T	0.18467	0.0443	M	0.70595	2.14	0.09310	N	1	P	0.41597	0.756	B	0.39562	0.303	T	0.00182	-1.1946	10	0.27785	T	0.31	-11.4314	5.7035	0.17895	0.098:0.4464:0.3171:0.1385	.	384	Q8WTU0	DDI1_HUMAN	N	384	ENSP00000302805:I384N	ENSP00000302805:I384N	I	+	2	0	DDI1	103413911	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.402000	0.07223	-2.272000	0.00682	-0.290000	0.09829	ATT		0.458	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		16	17	0	0	0	1	0	16	17				
OR7E24	26648	broad.mit.edu	37	19	9362120	9362120	+	Missense_Mutation	SNP	G	G	A	rs201058180		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9362120G>A	ENST00000456448.1	+	1	515	c.401G>A	c.(400-402)aGt>aAt	p.S134N		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATGCTCCTGAGTGTGATGGCC	0.478																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(400-402)aGt>aAt		olfactory receptor, family 7, subfamily E, member 24							124.0	128.0	127.0					19																	9362120		2199	4300	6499	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362120G>A	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.401G>A	19.37:g.9362120G>A	ENSP00000387523:p.Ser134Asn						p.S134N	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	515	+			134					B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.401G>A	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	g	8.186	0.795026	0.16327	.	.	ENSG00000237521	ENST00000456448	T	0.00902	5.56	2.39	0.0262	0.14149	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01661	0.0053	M	0.69463	2.115	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.33752	-0.9856	9	0.66056	D	0.02	.	12.2993	0.54866	0.0:0.8201:0.1799:0.0	.	134	Q6IFN5	O7E24_HUMAN	N	134	ENSP00000387523:S134N	ENSP00000387523:S134N	S	+	2	0	OR7E24	9223120	0.000000	0.05858	0.035000	0.18076	0.062000	0.15995	0.122000	0.15687	-0.035000	0.13691	-1.799000	0.00621	AGT		0.478	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			21	35	0	0	0	1	0	21	35				
RBBP6	5930	broad.mit.edu	37	16	24560270	24560270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24560270C>T	ENST00000319715.4	+	3	703	c.271C>T	c.(271-273)Cga>Tga	p.R91*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000452655.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.R91*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	91					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTTTAGAAGTCGAACTGAACC	0.274																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(271-273)Cga>Tga		retinoblastoma binding protein 6							79.0	69.0	72.0					16																	24560270		2197	4296	6493	SO:0001587	stop_gained	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24560270C>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.271C>T	16.37:g.24560270C>T	ENSP00000317872:p.Arg91*					RBBP6_ENST00000452655.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.R91*	p.R91*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	3	703	+			91					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Nonsense_Mutation	SNP	ENST00000319715.4	37	c.271C>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050610	0.93740	.	.	ENSG00000122257	ENST00000381039;ENST00000452655;ENST00000319715;ENST00000348022	.	.	.	5.25	5.25	0.73442	.	0.257891	0.33092	N	0.005286	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.805	19.2086	0.93746	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000317872:R91X	R	+	1	2	RBBP6	24467771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.957000	0.70323	2.616000	0.88540	0.585000	0.79938	CGA		0.274	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		6	7	0	0	0	1	0	6	7				
GSE1	23199	broad.mit.edu	37	16	85697170	85697170	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85697170A>C	ENST00000253458.7	+	11	2770	c.2594A>C	c.(2593-2595)aAg>aCg	p.K865T	GSE1_ENST00000393243.1_Missense_Mutation_p.K792T|GSE1_ENST00000405402.2_Missense_Mutation_p.K761T	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	865																	GAAAAGAAGAAGTTCCTGACC	0.562																																						ENST00000253458.7																			0											c.(2593-2595)aAg>aCg		Gse1 coiled-coil protein							94.0	90.0	92.0					16																	85697170		2198	4300	6498	SO:0001583	missense	23199							g.chr16:85697170A>C	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2594A>C	16.37:g.85697170A>C	ENSP00000253458:p.Lys865Thr					GSE1_ENST00000393243.1_Missense_Mutation_p.K792T|GSE1_ENST00000405402.2_Missense_Mutation_p.K761T	p.K865T	NM_014615.2	NP_055430.1					11	2770	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.2594A>C	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.01|18.01	3.527410|3.527410	0.64860|0.64860	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243|ENST00000412692;ENST00000438180	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.21|5.21	-0.0639|-0.0639	0.13774|0.13774	.|.	0.177165|.	0.46758|.	D|.	0.000272|.	T|T	0.39064|0.39064	0.1064|0.1064	N|N	0.22421|0.22421	0.69|0.69	0.34359|0.34359	D|D	0.690802|0.690802	P;D;D;D|.	0.58970|.	0.891;0.981;0.981;0.984|.	P;P;P;P|.	0.60415|.	0.673;0.801;0.801;0.874|.	T|T	0.45366|0.45366	-0.9266|-0.9266	10|5	0.37606|.	T|.	0.19|.	-32.5411|-32.5411	9.53|9.53	0.39187|0.39187	0.5555:0.0:0.4445:0.0|0.5555:0.0:0.4445:0.0	.|.	628;761;792;865|.	Q59GZ0;Q14687-2;Q14687-3;Q14687|.	.;.;.;GSE1_HUMAN|.	T|R	761;865;792|672;67	ENSP00000384839:K761T;ENSP00000253458:K865T;ENSP00000376934:K792T|.	ENSP00000253458:K865T|.	K|S	+|+	2|1	0|0	KIAA0182|KIAA0182	84254671|84254671	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	1.759000|1.759000	0.38420|0.38420	0.037000|0.037000	0.15575|0.15575	0.459000|0.459000	0.35465|0.35465	AAG|AGT		0.562	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		31	72	0	0	0	1	0	31	72				
SRPX2	27286	broad.mit.edu	37	X	99922392	99922392	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99922392C>A	ENST00000373004.3	+	9	1511	c.1083C>A	c.(1081-1083)atC>atA	p.I361I		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	361					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AAATGCAGATCTCTATGCTAC	0.448																																						ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1081-1083)atC>atA		sushi-repeat containing protein, X-linked 2							123.0	104.0	110.0					X																	99922392		2203	4300	6503	SO:0001819	synonymous_variant	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99922392C>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1083C>A	X.37:g.99922392C>A							p.I361I	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN			9	1511	+			361					B3KQT3|Q8WW85	Silent	SNP	ENST00000373004.3	37	c.1083C>A	CCDS14471.1																																																																																				0.448	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		27	45	1	0	1.7881e-09	1	2.15438e-09	27	45				
ZRSR1	7310	broad.mit.edu	37	5	112227655	112227655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112227655G>T	ENST00000391338.1	+	1	343	c.319G>T	c.(319-321)Gaa>Taa	p.E107*	REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_Intron|CTC-487M23.5_ENST00000602872.1_RNA|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000513339.1_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	107						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						atggctagaagaacaagagag	0.423																																						ENST00000391338.1																			0				breast(1)|skin(1)|stomach(2)	4						c.(319-321)Gaa>Taa		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1																																				SO:0001587	stop_gained	7310							g.chr5:112227655G>T	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.319G>T	5.37:g.112227655G>T	ENSP00000375133:p.Glu107*					REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000504247.1_Intron	p.E107*	NM_001204199.1	NP_001191128.1					1	343	+								B2R901|Q13570|Q2M3R8	Nonsense_Mutation	SNP	ENST00000391338.1	37	c.319G>T		.	.	.	.	.	.	.	.	.	.	G	16.23	3.063942	0.55432	.	.	ENSG00000212643	ENST00000391338	.	.	.	1.7	1.7	0.24286	.	0.048271	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.9687	0.35892	0.0:0.0:1.0:0.0	.	.	.	.	X	107	.	ENSP00000375133:E107X	E	+	1	0	ZRSR1	112255554	1.000000	0.71417	0.085000	0.20634	0.402000	0.30811	1.860000	0.39428	0.927000	0.37143	0.467000	0.42956	GAA		0.423	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		9	10	1	0	0.000274275	1	0.000292037	9	10				
ALX1	8092	broad.mit.edu	37	12	85680696	85680696	+	Silent	SNP	G	G	A	rs79907632	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85680696G>A	ENST00000316824.3	+	3	752	c.597G>A	c.(595-597)gcG>gcA	p.A199A		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	199					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TACAACAAGCGAAAAGCCATT	0.368													G|||	20	0.00399361	0.0144	0.0	5008	,	,		14945	0.001		0.0	False		,,,				2504	0.0					ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(595-597)gcG>gcA		ALX homeobox 1		G		41,4365	41.6+/-74.8	0,41,2162	121.0	108.0	112.0		597	-0.6	1.0	12	dbSNP_131	112	0,8600		0,0,4300	no	coding-synonymous	ALX1	NM_006982.2		0,41,6462	AA,AG,GG		0.0,0.9305,0.3152		199/327	85680696	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85680696G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.597G>A	12.37:g.85680696G>A							p.A199A	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	3	752	+			199					Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	37	c.597G>A	CCDS9028.1																																																																																				0.368	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		16	26	0	0	0	1	0	16	26				
PGM2	55276	broad.mit.edu	37	4	37831647	37831647	+	Missense_Mutation	SNP	G	G	A	rs201598002		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:37831647G>A	ENST00000381967.4	+	2	243	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	48					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GAAGAACTACGAAAATGTTTT	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13966	0.0		0.0	False		,,,				2504	0.0					ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(142-144)cGa>cAa		phosphoglucomutase 2		G	GLN/ARG	0,4406		0,0,2203	77.0	80.0	79.0		143	3.2	0.0	4		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	PGM2	NM_018290.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	48/613	37831647	1,13005	2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37831647G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.143G>A	4.37:g.37831647G>A	ENSP00000371393:p.Arg48Gln					PGM2_ENST00000537241.1_5'UTR|PGM2_ENST00000544359.1_5'UTR	p.R48Q	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			2	243	+			48					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.143G>A	CCDS3443.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.416	-0.910791	0.02434	0.0	1.16E-4	ENSG00000169299	ENST00000381967	T	0.49432	0.78	5.64	3.16	0.36331	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.455201	0.25961	N	0.027195	T	0.22244	0.0536	N	0.04018	-0.295	0.19300	N	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	10	0.23891	T	0.37	-3.096	8.1613	0.31201	0.7693:0.0:0.2307:0.0	.	48	Q96G03	PGM2_HUMAN	Q	48	ENSP00000371393:R48Q	ENSP00000371393:R48Q	R	+	2	0	PGM2	37508042	0.284000	0.24287	0.002000	0.10522	0.030000	0.12068	2.270000	0.43355	0.392000	0.25172	-0.312000	0.09012	CGA		0.433	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		22	27	0	0	0	1	0	22	27				
CRIM1	51232	broad.mit.edu	37	2	36744477	36744477	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:36744477T>A	ENST00000280527.2	+	12	2365	c.1998T>A	c.(1996-1998)ttT>ttA	p.F666L		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	666					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CAGATGACTTTGTGGTGCAGA	0.458																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1996-1998)ttT>ttA		cysteine rich transmembrane BMP regulator 1 (chordin-like)							85.0	78.0	80.0					2																	36744477		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36744477T>A	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1998T>A	2.37:g.36744477T>A	ENSP00000280527:p.Phe666Leu						p.F666L	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			12	2365	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	666					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.1998T>A	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	T	5.881	0.346687	0.11126	.	.	ENSG00000150938	ENST00000280527;ENST00000413985	T;T	0.63096	-0.02;-0.02	5.56	-7.43	0.01383	.	0.353337	0.30501	N	0.009488	T	0.16342	0.0393	N	0.00368	-1.59	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.46428	-0.9192	10	0.11485	T	0.65	-9.4133	8.4972	0.33136	0.1088:0.5752:0.1019:0.2141	.	666	Q9NZV1	CRIM1_HUMAN	L	666;28	ENSP00000280527:F666L;ENSP00000403120:F28L	ENSP00000280527:F666L	F	+	3	2	CRIM1	36597981	0.006000	0.16342	0.881000	0.34555	0.957000	0.61999	-1.485000	0.02314	-1.293000	0.02362	-0.904000	0.02843	TTT		0.458	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		26	37	0	0	0	1	0	26	37				
MRVI1	10335	broad.mit.edu	37	11	10653561	10653561	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10653561G>A	ENST00000436272.1	-	3	428	c.350C>T	c.(349-351)tCc>tTc	p.S117F	MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000547195.1_Missense_Mutation_p.S35F|MRVI1_ENST00000552103.1_Missense_Mutation_p.S35F|MRVI1_ENST00000421747.1_Missense_Mutation_p.S117F|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.S126F|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000527509.2_Missense_Mutation_p.S35F|MRVI1_ENST00000531107.1_Missense_Mutation_p.S117F|MRVI1_ENST00000423302.2_Missense_Mutation_p.S126F|MRVI1_ENST00000424001.1_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	117					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAGGCAGTGGACACCTTCAA	0.493																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(103-105)tCc>tTc		murine retrovirus integration site 1 homolog							87.0	92.0	90.0					11																	10653561		2086	4203	6289	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10653561G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.350C>T	11.37:g.10653561G>A	ENSP00000412229:p.Ser117Phe					MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.S117F|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000552103.1_Missense_Mutation_p.S35F|MRVI1_ENST00000421747.1_Missense_Mutation_p.S117F|MRVI1_ENST00000527509.2_Missense_Mutation_p.S35F|MRVI1_ENST00000541483.1_Missense_Mutation_p.S126F|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.S117F|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.S126F|MRVI1_ENST00000558540.1_5'UTR	p.S35F	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	3	604	-			117					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.104C>T		.	.	.	.	.	.	.	.	.	.	G	17.12	3.307591	0.60305	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T	0.22539	2.75;2.7;1.95;1.96;2.58;2.12;2.75;1.95	4.72	4.72	0.59763	.	0.071327	0.64402	D	0.000020	T	0.35970	0.0950	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.73380	0.931;0.956;0.956;0.98	T	0.10405	-1.0631	10	0.87932	D	0	-11.9907	14.7383	0.69434	0.0:0.0:1.0:0.0	.	126;117;117;117	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	F	117;118;117;35;35;126;126;117;35	ENSP00000414598:S117F;ENSP00000412229:S117F;ENSP00000448278:S35F;ENSP00000446764:S35F;ENSP00000412130:S126F;ENSP00000437784:S126F;ENSP00000432436:S117F;ENSP00000432067:S35F	ENSP00000307885:S118F	S	-	2	0	MRVI1	10610137	1.000000	0.71417	0.995000	0.50966	0.471000	0.32888	4.896000	0.63222	2.446000	0.82766	0.561000	0.74099	TCC		0.493	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		14	32	0	0	0	1	0	14	32				
HCK	3055	broad.mit.edu	37	20	30689247	30689247	+	Silent	SNP	G	G	A	rs369898770		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30689247G>A	ENST00000520553.1	+	13	1689	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P	HCK_ENST00000534862.1_Silent_p.P482P|HCK_ENST00000538448.1_Silent_p.P481P|HCK_ENST00000518730.1_Silent_p.P480P|HCK_ENST00000375862.2_Silent_p.P501P|HCK_ENST00000375852.2_Silent_p.P502P	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	502	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	AGGAGCGGCCGACCTTCGAAT	0.592																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(1444-1446)ccG>ccA		hemopoietic cell kinase		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	54.0	45.0	48.0		1443,1503,1440,1446,1443,1506	2.9	1.0	20		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HCK	NM_001172129.1,NM_001172130.1,NM_001172131.1,NM_001172132.1,NM_001172133.1,NM_002110.3	,,,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,,,	481/506,501/526,480/505,482/507,481/506,502/527	30689247	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30689247G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1443G>A	20.37:g.30689247G>A						HCK_ENST00000375852.2_Silent_p.P502P|HCK_ENST00000518730.1_Silent_p.P480P|HCK_ENST00000375862.2_Silent_p.P501P|HCK_ENST00000520553.1_Silent_p.P481P|HCK_ENST00000538448.1_Silent_p.P481P	p.P482P	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		14	1809	+			502			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.1446G>A	CCDS54455.1																																																																																				0.592	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			6	18	0	0	0	1	0	6	18				
HTR1B	3351	broad.mit.edu	37	6	78172516	78172516	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:78172516T>C	ENST00000369947.2	-	1	974	c.605A>G	c.(604-606)aAc>aGc	p.N202S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	202					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTGGTCGGTGTTCACCACGCA	0.587																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(604-606)aAc>aGc		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						72.0	75.0	74.0					6																	78172516		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172516T>C	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.605A>G	6.37:g.78172516T>C	ENSP00000358963:p.Asn202Ser						p.N202S	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	974	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	202					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.605A>G	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336232	0.24253	.	.	ENSG00000135312	ENST00000369947	T	0.36520	1.25	5.06	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.34521	1.04	0.58432	D	0.999991	D	0.76494	0.999	D	0.87578	0.998	T	0.07578	-1.0765	9	.	.	.	.	11.3336	0.49490	0.0:0.0:0.1526:0.8474	.	202	P28222	5HT1B_HUMAN	S	202	ENSP00000358963:N202S	.	N	-	2	0	HTR1B	78229235	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.746000	0.85057	0.924000	0.37069	0.454000	0.30748	AAC		0.587	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		7	34	0	0	0	1	0	7	34				
SLCO4C1	353189	broad.mit.edu	37	5	101593765	101593765	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101593765C>T	ENST00000310954.6	-	7	1441	c.1155G>A	c.(1153-1155)atG>atA	p.M385I		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAACTAAACACATAAAGACAG	0.303																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1153-1155)atG>atA		solute carrier organic anion transporter family, member 4C1							48.0	52.0	50.0					5																	101593765		2203	4296	6499	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101593765C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1155G>A	5.37:g.101593765C>T	ENSP00000309741:p.Met385Ile						p.M385I	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	7	1441	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	385						Missense_Mutation	SNP	ENST00000310954.6	37	c.1155G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	1.634	-0.518227	0.04171	.	.	ENSG00000173930	ENST00000310954	T	0.79554	-1.28	5.81	2.07	0.26955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.343833	0.31210	N	0.008053	T	0.64136	0.2571	L	0.33245	0.995	0.28217	N	0.926705	B	0.02656	0.0	B	0.12156	0.007	T	0.45454	-0.9260	10	0.10636	T	0.68	.	5.8713	0.18805	0.0:0.5962:0.1276:0.2762	.	385	Q6ZQN7	SO4C1_HUMAN	I	385	ENSP00000309741:M385I	ENSP00000309741:M385I	M	-	3	0	SLCO4C1	101621664	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	1.145000	0.31577	0.105000	0.17753	-0.232000	0.12228	ATG		0.303	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		10	28	0	0	0	1	0	10	28				
OR2T5	401993	broad.mit.edu	37	1	248651994	248651994	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248651994C>A	ENST00000366473.2	+	1	110	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			GTGTGGTCATCTTTGTGGTTT	0.488																																						ENST00000366473.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9						c.(103-105)atC>atA		olfactory receptor, family 2, subfamily T, member 5							124.0	142.0	136.0					1																	248651994		2199	4298	6497	SO:0001819	synonymous_variant	401993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248651994C>A	BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"""GPCR / Class A : Olfactory receptors"""	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.105C>A	1.37:g.248651994C>A							p.I35I	NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	110	+	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)		35						Silent	SNP	ENST00000366473.2	37	c.105C>A	CCDS31118.1																																																																																				0.488	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097422.1	NM_001004697		23	90	1	0	2.05212e-20	1	2.81235e-20	23	90				
MYLK3	91807	broad.mit.edu	37	16	46746599	46746599	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:46746599G>T	ENST00000394809.4	-	10	2190	c.2075C>A	c.(2074-2076)cCc>cAc	p.P692H	MYLK3_ENST00000562104.1_5'Flank|MYLK3_ENST00000536476.1_Missense_Mutation_p.P351H	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATGTCTGTGGGGAATGAGAC	0.527																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(2074-2076)cCc>cAc		myosin light chain kinase 3							106.0	93.0	97.0					16																	46746599		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46746599G>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2075C>A	16.37:g.46746599G>T	ENSP00000378288:p.Pro692His					MYLK3_ENST00000536476.1_Missense_Mutation_p.P351H	p.P692H	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			10	2190	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	692			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.2075C>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701359	0.68501	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.40225	1.04;1.04	5.85	5.85	0.93711	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35436	N	0.003211	T	0.54029	0.1833	L	0.39245	1.2	0.58432	D	0.999998	P	0.49635	0.926	P	0.56216	0.794	T	0.53114	-0.8484	10	0.87932	D	0	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	692	Q32MK0	MYLK3_HUMAN	H	692;351	ENSP00000378288:P692H;ENSP00000439297:P351H	ENSP00000378288:P692H	P	-	2	0	MYLK3	45304100	1.000000	0.71417	0.942000	0.38095	0.447000	0.32167	7.876000	0.87215	2.773000	0.95371	0.655000	0.94253	CCC		0.527	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		24	69	1	0	2.98393e-07	1	3.42142e-07	24	69				
GPR179	440435	broad.mit.edu	37	17	36482602	36482602	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:36482602C>A	ENST00000342292.4	-	11	6870	c.6850G>T	c.(6850-6852)Gat>Tat	p.D2284Y	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2284					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGAAGTGATCCAGAGGCCCA	0.493																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(6850-6852)Gat>Tat		G protein-coupled receptor 179							131.0	124.0	126.0					17																	36482602		1855	4101	5956	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36482602C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6850G>T	17.37:g.36482602C>A	ENSP00000345060:p.Asp2284Tyr					GPR179_ENST00000584976.1_Intron	p.D2284Y	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	6870	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	2284						Missense_Mutation	SNP	ENST00000342292.4	37	c.6850G>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306898	0.23821	.	.	ENSG00000188888	ENST00000342292	T	0.54675	0.56	4.64	2.61	0.31194	.	0.590740	0.14376	N	0.323458	T	0.31513	0.0799	N	0.22421	0.69	0.09310	N	1	B	0.33135	0.399	B	0.24701	0.055	T	0.18587	-1.0332	10	0.59425	D	0.04	-0.3405	4.68	0.12731	0.1468:0.6015:0.1646:0.0871	.	2284	Q6PRD1	GP179_HUMAN	Y	2284	ENSP00000345060:D2284Y	ENSP00000345060:D2284Y	D	-	1	0	GPR179	33736128	0.000000	0.05858	0.003000	0.11579	0.820000	0.46376	0.047000	0.14056	0.662000	0.31006	0.585000	0.79938	GAT		0.493	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			62	107	1	0	2.66076e-39	1	3.84021e-39	62	107				
ANKK1	255239	broad.mit.edu	37	11	113270689	113270689	+	Silent	SNP	G	G	A	rs189187004		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113270689G>A	ENST00000303941.3	+	8	2092	c.1998G>A	c.(1996-1998)gcG>gcA	p.A666A		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	666							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TCCACCTGGCGGTCCAGAGGA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		20884	0.0		0.001	False		,,,				2504	0.0					ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1996-1998)gcG>gcA		ankyrin repeat and kinase domain containing 1		G		0,4152		0,0,2076	61.0	70.0	67.0		1998	-9.1	0.0	11		67	1,8391		0,1,4195	no	coding-synonymous	ANKK1	NM_178510.1		0,1,6271	AA,AG,GG		0.0119,0.0,0.0080		666/766	113270689	1,12543	2076	4196	6272	SO:0001819	synonymous_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270689G>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1998G>A	11.37:g.113270689G>A							p.A666A	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	2092	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	666						Silent	SNP	ENST00000303941.3	37	c.1998G>A	CCDS44734.1																																																																																				0.647	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		26	47	0	0	0	1	0	26	47				
ASXL1	171023	broad.mit.edu	37	20	31021321	31021321	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31021321A>C	ENST00000375687.4	+	12	1744	c.1320A>C	c.(1318-1320)aaA>aaC	p.K440N	ASXL1_ENST00000306058.5_Missense_Mutation_p.K435N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	440	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGGATGCAAAATCTGTGGCCT	0.527			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1318-1320)aaA>aaC		additional sex combs like 1 (Drosophila)							99.0	97.0	97.0					20																	31021321		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021321A>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1320A>C	20.37:g.31021321A>C	ENSP00000364839:p.Lys440Asn					ASXL1_ENST00000306058.5_Missense_Mutation_p.K435N	p.K440N	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			12	1744	+			440					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1320A>C	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	A	9.002	0.980248	0.18812	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14766	2.48;2.48	4.28	-0.584	0.11702	.	0.774065	0.11634	N	0.544500	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.43343	-0.9397	10	0.19590	T	0.45	-0.8585	5.1061	0.14785	0.1544:0.1326:0.5644:0.1486	.	435;440	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	N	440;440;440;379;435	ENSP00000364839:K440N;ENSP00000305119:K435N	ENSP00000305119:K435N	K	+	3	2	ASXL1	30484982	0.000000	0.05858	0.371000	0.25978	0.968000	0.65278	-0.628000	0.05515	-0.167000	0.10871	0.533000	0.62120	AAA		0.527	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		5	110	0	0	0	1	0	5	110				
FAM184A	79632	broad.mit.edu	37	6	119301348	119301348	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:119301348G>A	ENST00000338891.7	-	10	2699	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	FAM184A_ENST00000521531.1_Silent_p.V752V|FAM184A_ENST00000352896.5_Silent_p.V632V|FAM184A_ENST00000368475.4_Silent_p.V632V|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	752						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GAAATGCAAGGACATGTGCTT	0.388																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(2254-2256)gtC>gtT		family with sequence similarity 184, member A							153.0	143.0	146.0					6																	119301348		1890	4113	6003	SO:0001819	synonymous_variant	79632							g.chr6:119301348G>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2256C>T	6.37:g.119301348G>A						FAM184A_ENST00000521531.1_Silent_p.V752V|FAM184A_ENST00000368475.4_Silent_p.V632V|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Silent_p.V632V	p.V752V	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			10	2699	-			752					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	c.2256C>T	CCDS43499.1																																																																																				0.388	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		15	40	0	0	0	1	0	15	40				
ZNF667	63934	broad.mit.edu	37	19	56953524	56953524	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56953524T>C	ENST00000504904.3	-	7	1559	c.840A>G	c.(838-840)acA>acG	p.T280T	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.T408T|ZNF667_ENST00000292069.6_Silent_p.T280T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TATATTTATGTGTTTTCTTTC	0.363																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(838-840)acA>acG		zinc finger protein 667							63.0	68.0	66.0					19																	56953524		2200	4297	6497	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953524T>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.840A>G	19.37:g.56953524T>C						ZNF667_ENST00000342634.3_Silent_p.T408T|ZNF667_ENST00000292069.6_Silent_p.T280T|ZNF667_ENST00000591790.1_3'UTR	p.T280T			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1559	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	280					B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.840A>G	CCDS12944.1																																																																																				0.363	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		14	49	0	0	0	1	0	14	49				
CHIT1	1118	broad.mit.edu	37	1	203188819	203188819	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203188819C>A	ENST00000367229.1	-	8	922	c.888G>T	c.(886-888)aaG>aaT	p.K296N	CHIT1_ENST00000535569.1_Missense_Mutation_p.K287N|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.K277N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	296					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCCCTCCTTCCTTGGTGAAGG	0.587																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(886-888)aaG>aaT		chitinase 1 (chitotriosidase)							69.0	72.0	71.0					1																	203188819		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203188819C>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.888G>T	1.37:g.203188819C>A	ENSP00000356198:p.Lys296Asn					CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.K277N|CHIT1_ENST00000535569.1_Missense_Mutation_p.K287N	p.K296N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			8	922	-			296					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.888G>T	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871729	0.33069	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06068	3.35;3.35;3.35	5.2	-1.11	0.09840	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.347275	0.24527	N	0.037748	T	0.06554	0.0168	L	0.45051	1.395	0.31005	N	0.719931	B;B;B	0.30824	0.296;0.074;0.211	B;B;B	0.39152	0.292;0.052;0.29	T	0.14559	-1.0468	10	0.46703	T	0.11	-0.3964	5.5121	0.16886	0.0:0.3139:0.1493:0.5368	.	296;287;296	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	N	296;277;287	ENSP00000356198:K296N;ENSP00000255427:K277N;ENSP00000438078:K287N	ENSP00000255427:K277N	K	-	3	2	CHIT1	201455442	0.000000	0.05858	0.286000	0.24833	0.919000	0.55068	-0.928000	0.03980	-0.104000	0.12154	0.655000	0.94253	AAG		0.587	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		24	49	1	0	2.70639e-06	1	3.02606e-06	24	49				
SNHG14	104472715	broad.mit.edu	37	15	25302011	25302011	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25302011C>T	ENST00000549804.2	+	0	98				SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA|SNORD116-3_ENST00000384287.1_RNA|SNHG14_ENST00000384733.1_RNA|RP11-701H24.10_ENST00000552781.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GTGCTTGGATCGATGATGAGT	0.507																																						ENST00000549804.2																			0																				146.0	139.0	141.0					15																	25302011		876	1991	2867			0							g.chr15:25302011C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25302011C>T						SNORD116-3_ENST00000384287.1_RNA								0	98	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.507	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			44	94	0	0	0	1	0	44	94				
ACSM2A	123876	broad.mit.edu	37	16	20497922	20497922	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20497922G>T	ENST00000573854.1	+	14	1770	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N	AC137056.1_ENST00000593357.1_5'Flank|ACSM2A_ENST00000536134.1_Missense_Mutation_p.K324N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.K552N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.K473N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.K552N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.K552N	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	552					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACCTGCCCAAGACTGTCACAG	0.468																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1654-1656)aaG>aaT		acyl-CoA synthetase medium-chain family member 2A							168.0	164.0	166.0					16																	20497922		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20497922G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1656G>T	16.37:g.20497922G>T	ENSP00000459451:p.Lys552Asn					ACSM2A_ENST00000219054.6_Missense_Mutation_p.K552N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.K552N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.K552N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.K324N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.K473N	p.K552N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			14	1770	+			552					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1656G>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307761	0.40795	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	3.74	1.69	0.24217	.	0.000000	0.45867	D	0.000321	T	0.76399	0.3982	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75088	-0.3441	10	0.87932	D	0	-18.7726	8.0822	0.30752	0.2007:0.0:0.7993:0.0	.	552	Q08AH3	ACS2A_HUMAN	N	473;552;324;552	ENSP00000392169:K473N;ENSP00000219054:K552N;ENSP00000445082:K324N;ENSP00000379411:K552N	ENSP00000219054:K552N	K	+	3	2	ACSM2A	20405423	0.996000	0.38824	0.798000	0.32154	0.192000	0.23643	0.160000	0.16462	0.251000	0.21505	0.306000	0.20318	AAG		0.468	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		18	159	1	0	8.34094e-07	1	9.42356e-07	18	159				
NRAS	4893	broad.mit.edu	37	1	115256514	115256514	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:115256514G>A	ENST00000369535.4	-	3	450	c.197C>T	c.(196-198)gCc>gTc	p.A66V		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	66					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTCTCATGGCACTGTACTC	0.443		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4		50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		0				NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(196-198)gCc>gTc		neuroblastoma RAS viral (v-ras) oncogene homolog							187.0	160.0	169.0					1																	115256514		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256514G>A	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.197C>T	1.37:g.115256514G>A	ENSP00000358548:p.Ala66Val	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.A66V	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	450	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	66					Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.197C>T	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359173	0.82353	.	.	ENSG00000213281	ENST00000369535	T	0.77750	-1.12	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000035	T	0.73659	0.3615	M	0.77616	2.38	0.80722	D	1	B	0.20164	0.042	B	0.20184	0.028	T	0.74639	-0.3598	10	0.87932	D	0	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	66	P01111	RASN_HUMAN	V	66	ENSP00000358548:A66V	ENSP00000358548:A66V	A	-	2	0	NRAS	115058037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.554000	0.98121	2.624000	0.88883	0.655000	0.94253	GCC		0.443	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		39	73	0	0	0	1	0	39	73				
TRMT10C	54931	broad.mit.edu	37	3	101284157	101284157	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101284157C>A	ENST00000309922.6	+	2	686	c.532C>A	c.(532-534)Cta>Ata	p.L178I		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	178					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GAAAAACTTTCTATTTTTACG	0.408																																						ENST00000309922.6																			0											c.(532-534)Cta>Ata		tRNA methyltransferase 10 homolog C (S. cerevisiae)							82.0	78.0	79.0					3																	101284157		1829	4082	5911	SO:0001583	missense	54931							g.chr3:101284157C>A	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.532C>A	3.37:g.101284157C>A	ENSP00000312356:p.Leu178Ile						p.L178I	NM_017819.2	NP_060289.2					2	686	+								Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.532C>A	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288436	0.10513	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.23348	2.5;1.91	5.72	1.13	0.20643	.	0.645826	0.14968	N	0.287972	T	0.11153	0.0272	N	0.14661	0.345	0.09310	N	1	B	0.23442	0.085	B	0.17979	0.02	T	0.29336	-1.0015	10	0.19590	T	0.45	-24.9	4.2544	0.10710	0.4104:0.3593:0.0:0.2302	.	178	Q7L0Y3	MRRP1_HUMAN	I	178	ENSP00000312356:L178I;ENSP00000419389:L178I	ENSP00000312356:L178I	L	+	1	2	RG9MTD1	102766847	0.749000	0.28305	0.332000	0.25469	0.456000	0.32438	0.515000	0.22801	0.293000	0.22520	0.655000	0.94253	CTA		0.408	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		15	35	1	0	3.27435e-08	1	3.83577e-08	15	35				
PPIE	10450	broad.mit.edu	37	1	40207070	40207070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40207070G>T	ENST00000324379.5	+	3	182	c.163G>T	c.(163-165)Gag>Tag	p.E55*	PPIE_ENST00000372830.1_Nonsense_Mutation_p.E55*|PPIE_ENST00000356511.2_Nonsense_Mutation_p.E55*|PPIE_ENST00000470213.1_Nonsense_Mutation_p.E55*|PPIE_ENST00000480169.1_3'UTR	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	55	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGTTGAATTTGAGTTGGCAGA	0.383																																						ENST00000324379.5																			0				kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9						c.(163-165)Gag>Tag		peptidylprolyl isomerase E (cyclophilin E)							271.0	237.0	248.0					1																	40207070		2203	4300	6503	SO:0001587	stop_gained	10450				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding	g.chr1:40207070G>T	AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"""RNA binding motif (RRM) containing"""	9258	protein-coding gene	gene with protein product	"""peptidyl-prolyl cis-trans isomerase E"", ""cyclophilin 33"", ""cyclophilin E"", ""PPIase E"", ""rotamase E"", ""peptidylprolyl isomerase E, isoform 1"""	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.163G>T	1.37:g.40207070G>T	ENSP00000312769:p.Glu55*					PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000372830.1_Nonsense_Mutation_p.E55*|PPIE_ENST00000356511.2_Nonsense_Mutation_p.E55*|PPIE_ENST00000470213.1_Nonsense_Mutation_p.E55*	p.E55*	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	182	+	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	55			RRM.		B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Nonsense_Mutation	SNP	ENST00000324379.5	37	c.163G>T	CCDS443.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947846	0.92593	.	.	ENSG00000084072	ENST00000324379;ENST00000356511;ENST00000470213;ENST00000372830	.	.	.	5.0	4.08	0.47627	.	0.056021	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-34.5006	15.2257	0.73348	0.0:0.1412:0.8588:0.0	.	.	.	.	X	55	.	ENSP00000312769:E55X	E	+	1	0	PPIE	39979657	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.620000	0.90943	1.336000	0.45506	0.561000	0.74099	GAG		0.383	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2	NM_006112		23	36	1	0	9.04412e-07	1	1.02139e-06	23	36				
FRY	10129	broad.mit.edu	37	13	32759225	32759225	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32759225C>A	ENST00000380250.3	+	26	3755	c.3259C>A	c.(3259-3261)Ctt>Att	p.L1087I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1087						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGTTGAAATTCTTAAAGATAT	0.438																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3259-3261)Ctt>Att		furry homolog (Drosophila)							97.0	94.0	95.0					13																	32759225		1885	4098	5983	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32759225C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3259C>A	13.37:g.32759225C>A	ENSP00000369600:p.Leu1087Ile						p.L1087I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	26	3755	+		Lung SC(185;0.0271)	1087					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3259C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093426	0.76756	.	.	ENSG00000073910	ENST00000380250	T	0.27256	1.68	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.46541	0.1398	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.14896	-1.0456	10	0.37606	T	0.19	.	19.4663	0.94943	0.0:1.0:0.0:0.0	.	1087	Q5TBA9	FRY_HUMAN	I	1087	ENSP00000369600:L1087I	ENSP00000369600:L1087I	L	+	1	0	FRY	31657225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.870000	0.56070	2.675000	0.91044	0.650000	0.86243	CTT		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		6	96	1	0	0.00116845	1	0.00122532	6	96				
TTN	7273	broad.mit.edu	37	2	179441428	179441428	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179441428C>A	ENST00000591111.1	-	275	64844	c.64620G>T	c.(64618-64620)aaG>aaT	p.K21540N	TTN_ENST00000589042.1_Missense_Mutation_p.K23181N|TTN_ENST00000342992.6_Missense_Mutation_p.K20613N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14116N|TTN_ENST00000359218.5_Missense_Mutation_p.K14241N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14308N|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21540	Fibronectin type-III 56. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGGCTTTTCTTTTCTCTCC	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(69541-69543)aaG>aaT		titin							214.0	205.0	208.0					2																	179441428		1917	4142	6059	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441428C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64620G>T	2.37:g.179441428C>A	ENSP00000465570:p.Lys21540Asn					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14308N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14241N|TTN_ENST00000342992.6_Missense_Mutation_p.K20613N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14116N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21540N	p.K23181N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		325	69767	-			21540			Fibronectin type-III 68.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.69543G>T		.	.	.	.	.	.	.	.	.	.	C	11.43	1.637029	0.29157	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.72	4.84	0.62591	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68568	0.3015	M	0.65320	2	0.51482	D	0.999926	D;D;D;P	0.54772	0.968;0.968;0.968;0.942	P;P;P;P	0.54629	0.757;0.757;0.757;0.679	T	0.73600	-0.3931	9	0.87932	D	0	.	16.6288	0.85011	0.1308:0.8692:0.0:0.0	.	14116;14241;14308;21540	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	20613;14116;14308;14241;14114	ENSP00000343764:K20613N;ENSP00000434586:K14116N;ENSP00000340554:K14308N;ENSP00000352154:K14241N	ENSP00000340554:K14308N	K	-	3	2	TTN	179149674	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.675000	0.61619	1.535000	0.49220	0.655000	0.94253	AAG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		59	100	1	0	2.3441e-25	1	3.30017e-25	59	100				
DTNA	1837	broad.mit.edu	37	18	32459636	32459636	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32459636T>C	ENST00000399113.3	+	19	2034	c.2034T>C	c.(2032-2034)ccT>ccC	p.P678P	DTNA_ENST00000595022.1_Silent_p.P618P|DTNA_ENST00000556414.3_Silent_p.P330P|DTNA_ENST00000399097.3_Silent_p.P326P|DTNA_ENST00000598334.1_Silent_p.P618P|DTNA_ENST00000590831.2_Silent_p.P104P|DTNA_ENST00000591182.1_Silent_p.P326P|DTNA_ENST00000601125.1_Silent_p.P300P|DTNA_ENST00000269190.7_Silent_p.P679P|DTNA_ENST00000444659.1_Silent_p.P678P|DTNA_ENST00000598142.1_Silent_p.P621P|DTNA_ENST00000283365.9_Silent_p.P621P|DTNA_ENST00000399121.5_Silent_p.P625P|DTNA_ENST00000269192.7_Silent_p.P387P			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	678					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCCGAAAACCTGGGTACATTC	0.458																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1861-1863)ccT>ccC		dystrobrevin, alpha							82.0	76.0	78.0					18																	32459636		2203	4300	6503	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32459636T>C	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.2034T>C	18.37:g.32459636T>C						DTNA_ENST00000590831.2_Silent_p.P104P|DTNA_ENST00000556414.3_Silent_p.P330P|DTNA_ENST00000591182.1_Silent_p.P326P|DTNA_ENST00000601125.1_Silent_p.P300P|DTNA_ENST00000399121.5_Silent_p.P625P|DTNA_ENST00000444659.1_Silent_p.P678P|DTNA_ENST00000269190.7_Silent_p.P679P|DTNA_ENST00000269192.7_Silent_p.P387P|DTNA_ENST00000595022.1_Silent_p.P618P|DTNA_ENST00000399113.3_Silent_p.P678P|DTNA_ENST00000399097.3_Silent_p.P326P|DTNA_ENST00000598142.1_Silent_p.P621P|DTNA_ENST00000598334.1_Silent_p.P618P	p.P621P	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			19	2214	+			678					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.1863T>C	CCDS59311.1																																																																																				0.458	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		18	27	0	0	0	1	0	18	27				
TRAV12-1	28674	broad.mit.edu	37	14	22309784	22309784	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:22309784C>T	ENST00000390433.1	+	0	168									T cell receptor alpha variable 12-1																		AGTCTTTCTTCTGGTACAGAC	0.483																																						ENST00000390433.1																			0																				79.0	76.0	77.0					14																	22309784		1914	4125	6039			0							g.chr14:22309784C>T	AE000659		14q11.2	2012-02-07			ENSG00000211785	ENSG00000211785		"""T cell receptors / TRA locus"""	12105	other	T cell receptor gene						8188290	Standard	NG_001332		Approved		uc001wbx.2		OTTHUMG00000168990		14.37:g.22309784C>T														0	168	+									RNA	SNP	ENST00000390433.1	37																																																																																						0.483	TRAV12-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401888.1	NG_001332		24	48	0	0	0	1	0	24	48				
OBFC1	79991	broad.mit.edu	37	10	105648830	105648830	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105648830G>A	ENST00000224950.3	-	9	1116	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	OBFC1_ENST00000369764.1_Splice_Site_p.H317Y|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	317	Winged helix-turn-helix (wHTH) 2.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)	p.H317Y(2)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TACCACTTACGATTTGGTTTC	0.498																																						ENST00000224950.3																			2	Substitution - Missense(2)	p.H317Y(2)	large_intestine(1)|lung(1)	large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.e9+1		oligonucleotide/oligosaccharide-binding fold containing 1							161.0	152.0	155.0					10																	105648830		2203	4300	6503	SO:0001630	splice_region_variant	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105648830G>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.949+1C>T	10.37:g.105648830G>A						OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Splice_Site_p.H317_splice	p.H317_splice	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	9	1116	-		Colorectal(252;0.178)	317					D3DR99|Q5TCZ0	Splice_Site	SNP	ENST00000224950.3	37	c.949_splice	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287058	0.23478	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.45276	0.9;0.9	5.25	4.34	0.51931	Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.477946	0.24901	N	0.034691	T	0.37019	0.0988	L	0.55834	1.745	0.46927	D	0.999255	B	0.19817	0.039	B	0.15484	0.013	T	0.13072	-1.0523	9	.	.	.	-1.636	11.9209	0.52791	0.0861:0.0:0.9139:0.0	.	317	Q9H668	STN1_HUMAN	Y	317	ENSP00000224950:H317Y;ENSP00000358779:H317Y	.	H	-	1	0	OBFC1	105638820	1.000000	0.71417	0.951000	0.38953	0.880000	0.50808	4.332000	0.59279	1.186000	0.42985	0.561000	0.74099	CAC		0.498	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928	Missense_Mutation	18	32	0	0	0	1	0	18	32				
ADAMTS20	80070	broad.mit.edu	37	12	43777415	43777415	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:43777415C>A	ENST00000389420.3	-	31	4742	c.4743G>T	c.(4741-4743)aaG>aaT	p.K1581N		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1581	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCTGCAATTCTTGGATGTAA	0.368																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4741-4743)aaG>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							143.0	131.0	135.0					12																	43777415		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777415C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4743G>T	12.37:g.43777415C>A	ENSP00000374071:p.Lys1581Asn						p.K1581N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	31	4742	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1581			TSP type-1 13.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4743G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	8.729	0.916198	0.17907	.	.	ENSG00000173157	ENST00000389420	T	0.60797	0.16	4.7	-0.215	0.13157	.	0.238438	0.28834	N	0.013997	T	0.53270	0.1786	L	0.55990	1.75	0.09310	N	0.999999	P	0.47409	0.895	P	0.47626	0.552	T	0.50233	-0.8852	10	0.52906	T	0.07	.	8.7052	0.34349	0.0:0.3511:0.0:0.6489	.	1581	P59510	ATS20_HUMAN	N	1581	ENSP00000374071:K1581N	ENSP00000374071:K1581N	K	-	3	2	ADAMTS20	42063682	0.182000	0.23173	0.133000	0.22050	0.006000	0.05464	-0.005000	0.12855	0.052000	0.16007	-0.302000	0.09304	AAG		0.368	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		9	22	1	0	7.48243e-07	1	8.49459e-07	9	22				
PACS2	23241	broad.mit.edu	37	14	105857575	105857575	+	Missense_Mutation	SNP	C	C	T	rs368898941		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105857575C>T	ENST00000325438.8	+	20	2567	c.2063C>T	c.(2062-2064)tCg>tTg	p.S688L	PACS2_ENST00000551743.1_Missense_Mutation_p.S202L|PACS2_ENST00000458164.2_Missense_Mutation_p.S703L|PACS2_ENST00000430725.2_Missense_Mutation_p.S613L|PACS2_ENST00000447393.1_Missense_Mutation_p.S692L|PACS2_ENST00000547217.1_Missense_Mutation_p.S658L|PACS2_ENST00000551801.1_5'Flank			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	688					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GAGCCATCCTCGGCCACATCA	0.602																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(2074-2076)tCg>tTg		phosphofurin acidic cluster sorting protein 2		C	LEU/SER,LEU/SER	0,4406		0,0,2203	146.0	118.0	127.0		2063,2075	4.3	0.6	14		127	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PACS2	NM_015197.3,NM_001100913.2	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	688/890,692/894	105857575	1,13005	2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105857575C>T	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2063C>T	14.37:g.105857575C>T	ENSP00000321834:p.Ser688Leu					PACS2_ENST00000430725.2_Missense_Mutation_p.S613L|PACS2_ENST00000458164.2_Missense_Mutation_p.S703L|PACS2_ENST00000551743.1_Missense_Mutation_p.S202L|PACS2_ENST00000547217.1_Missense_Mutation_p.S658L|PACS2_ENST00000325438.8_Missense_Mutation_p.S688L	p.S692L	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	20	2250	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	688					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.2075C>T	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	8.209	0.799930	0.16397	0.0	1.16E-4	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	4.35	4.35	0.52113	.	0.073983	0.56097	D	0.000028	T	0.29223	0.0727	N	0.25144	0.715	0.38780	D	0.954741	B;B;B;B	0.19331	0.006;0.005;0.027;0.035	B;B;B;B	0.17433	0.011;0.003;0.018;0.009	T	0.12142	-1.0559	10	0.16896	T	0.51	-10.7486	15.4427	0.75200	0.0:1.0:0.0:0.0	.	692;703;688;689	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	L	613;688;703;692;658;202	ENSP00000393524:S613L;ENSP00000321834:S688L;ENSP00000399732:S703L;ENSP00000393559:S692L;ENSP00000449525:S658L;ENSP00000449254:S202L	ENSP00000321834:S688L	S	+	2	0	PACS2	104928620	0.930000	0.31532	0.582000	0.28627	0.544000	0.35116	2.876000	0.48498	1.967000	0.57214	0.561000	0.74099	TCG		0.602	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		21	44	0	0	0	1	0	21	44				
EPHA5	2044	broad.mit.edu	37	4	66201816	66201816	+	Missense_Mutation	SNP	G	G	A	rs556854839		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:66201816G>A	ENST00000273854.3	-	16	3286	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	EPHA5_ENST00000432638.2_Missense_Mutation_p.R733C|EPHA5_ENST00000511294.1_Missense_Mutation_p.R897C|EPHA5_ENST00000354839.4_Missense_Mutation_p.R874C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	896	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTGGCAGACGATAGCCTTCC	0.438										TSP Lung(17;0.13)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		15156	0.0		0.0	False		,,,				2504	0.0					ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2686-2688)Cgt>Tgt		EPH receptor A5							93.0	79.0	83.0					4																	66201816		2203	4299	6502	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66201816G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2686C>T	4.37:g.66201816G>A	ENSP00000273854:p.Arg896Cys	TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Missense_Mutation_p.R874C|EPHA5_ENST00000432638.2_Missense_Mutation_p.R733C|EPHA5_ENST00000511294.1_Missense_Mutation_p.R897C	p.R896C	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			16	3286	-			896			Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2686C>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172866	0.78452	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.93	5.08	0.68730	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.95310	0.8478	H	0.97214	3.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97060	0.9770	10	0.87932	D	0	.	16.3228	0.82958	0.0:0.0:0.8668:0.1332	.	875;897;874;896	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	C	896;733;874;897	ENSP00000273854:R896C;ENSP00000389208:R733C;ENSP00000346899:R874C;ENSP00000427638:R897C	ENSP00000273854:R896C	R	-	1	0	EPHA5	65884411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.017000	0.49615	1.486000	0.48398	0.655000	0.94253	CGT		0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		12	29	0	0	0	1	0	12	29				
PDC	5132	broad.mit.edu	37	1	186415580	186415580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186415580G>T	ENST00000391997.2	-	3	278	c.191C>A	c.(190-192)tCa>tAa	p.S64*	PDC_ENST00000340129.5_Nonsense_Mutation_p.S64*|PDC_ENST00000456239.2_Nonsense_Mutation_p.S12*|PDC_ENST00000497198.1_Nonsense_Mutation_p.S12*	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	64					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCGTTCCTTTGAATCTTTGCC	0.338																																						ENST00000391997.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(190-192)tCa>tAa		phosducin							135.0	130.0	132.0					1																	186415580		2203	4300	6503	SO:0001587	stop_gained	5132				G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	g.chr1:186415580G>T	AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.191C>A	1.37:g.186415580G>T	ENSP00000375855:p.Ser64*					PDC_ENST00000456239.2_Nonsense_Mutation_p.S12*|PDC_ENST00000340129.5_Nonsense_Mutation_p.S64*|PDC_ENST00000497198.1_Nonsense_Mutation_p.S12*	p.S64*	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	3	278	-		Breast(1374;1.53e-05)	64					Q14816|Q9UP22|Q9UP23	Nonsense_Mutation	SNP	ENST00000391997.2	37	c.191C>A	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463595	0.63513	.	.	ENSG00000116703	ENST00000391997;ENST00000497198;ENST00000456239;ENST00000340129	.	.	.	5.36	5.36	0.76844	.	0.595385	0.17558	N	0.169934	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-39.6172	19.0908	0.93225	0.0:0.0:1.0:0.0	.	.	.	.	X	64;12;12;64	.	ENSP00000342033:S64X	S	-	2	0	PDC	184682203	1.000000	0.71417	0.584000	0.28653	0.166000	0.22503	6.988000	0.76212	2.498000	0.84270	0.591000	0.81541	TCA		0.338	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577		18	27	1	0	0.000566183	1	0.00059967	18	27				
CLEC4A	50856	broad.mit.edu	37	12	8276482	8276482	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8276482C>T	ENST00000229332.5	+	1	255	c.8C>T	c.(7-9)tCg>tTg	p.S3L	CLEC4A_ENST00000345999.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000352620.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000360500.3_Missense_Mutation_p.S3L	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	3					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		ATTATGACTTCGGAAATCACT	0.378																																						ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(7-9)tCg>tTg		C-type lectin domain family 4, member A							73.0	65.0	68.0					12																	8276482		2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8276482C>T	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.8C>T	12.37:g.8276482C>T	ENSP00000229332:p.Ser3Leu					CLEC4A_ENST00000360500.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000352620.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000345999.3_Missense_Mutation_p.S3L	p.S3L	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	1	255	+			3					Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.8C>T	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705403	0.30232	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.01203	5.36;5.44;5.18;5.31	4.31	0.418	0.16429	.	.	.	.	.	T	0.01029	0.0034	L	0.42686	1.345	0.09310	N	1	P;B;P;P	0.46912	0.69;0.119;0.886;0.564	B;B;B;B	0.33750	0.099;0.013;0.169;0.046	T	0.52845	-0.8521	9	0.40728	T	0.16	.	6.8584	0.24054	0.0:0.6052:0.0:0.3948	.	3;3;3;3	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	L	3	ENSP00000229332:S3L;ENSP00000344646:S3L;ENSP00000247243:S3L;ENSP00000353690:S3L	ENSP00000229332:S3L	S	+	2	0	CLEC4A	8167749	0.173000	0.23056	0.000000	0.03702	0.165000	0.22458	0.274000	0.18680	0.066000	0.16515	-0.145000	0.13849	TCG		0.378	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		17	23	0	0	0	1	0	17	23				
NPC1	4864	broad.mit.edu	37	18	21136259	21136259	+	Missense_Mutation	SNP	G	G	A	rs140149624		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21136259G>A	ENST00000269228.5	-	8	1828	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S175L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	425					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATCAGCTCCCGAAGGGTATGG	0.498																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	GRCh37	CM053359	NPC1	M	rs140149624	c.(1273-1275)tCg>tTg		Niemann-Pick disease, type C1		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	102.0	95.0	97.0		1274	5.5	0.8	18	dbSNP_134	97	0,8600		0,0,4300	no	missense	NPC1	NM_000271.4	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	425/1279	21136259	1,13005	2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21136259G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1274C>T	18.37:g.21136259G>A	ENSP00000269228:p.Ser425Leu					NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S175L	p.S425L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			8	1828	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		425					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1274C>T	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642493	0.67244	2.27E-4	0.0	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.88586	-2.4;-2.4	5.53	5.53	0.82687	.	0.267174	0.39020	N	0.001492	D	0.83234	0.5210	N	0.20845	0.615	0.40896	D	0.984116	B;B	0.12630	0.002;0.006	B;B	0.09377	0.004;0.004	T	0.77349	-0.2621	10	0.44086	T	0.13	-3.9404	19.8185	0.96581	0.0:0.0:1.0:0.0	.	436;425	Q59GR1;O15118	.;NPC1_HUMAN	L	425;175;270	ENSP00000269228:S425L;ENSP00000408606:S175L	ENSP00000269228:S425L	S	-	2	0	NPC1	19390257	1.000000	0.71417	0.765000	0.31456	0.840000	0.47671	6.959000	0.76031	2.750000	0.94351	0.655000	0.94253	TCG		0.498	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		24	54	0	0	0	1	0	24	54				
MAP1B	4131	broad.mit.edu	37	5	71493698	71493698	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71493698G>T	ENST00000296755.7	+	5	4814	c.4516G>T	c.(4516-4518)Gat>Tat	p.D1506Y		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1506					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CACACAAATAGATGTCAGTCA	0.428																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(4516-4518)Gat>Tat		microtubule-associated protein 1B							129.0	125.0	126.0					5																	71493698		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493698G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4516G>T	5.37:g.71493698G>T	ENSP00000296755:p.Asp1506Tyr						p.D1506Y	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4814	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1506					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4516G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569993	0.45798	.	.	ENSG00000131711	ENST00000296755	T	0.04758	3.56	5.55	5.55	0.83447	.	0.083209	0.51477	D	0.000087	T	0.10252	0.0251	N	0.24115	0.695	0.46185	D	0.998913	D;D	0.89917	0.999;1.0	D;D	0.63488	0.915;0.915	T	0.05146	-1.0903	10	0.72032	D	0.01	-24.3593	12.8047	0.57607	0.0748:0.0:0.9252:0.0	.	1380;1506	A2BDK6;P46821	.;MAP1B_HUMAN	Y	1506	ENSP00000296755:D1506Y	ENSP00000296755:D1506Y	D	+	1	0	MAP1B	71529454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.364000	0.79526	2.627000	0.88993	0.561000	0.74099	GAT		0.428	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		27	47	1	0	1.66031e-10	1	2.0393e-10	27	47				
PCDHA9	9752	broad.mit.edu	37	5	140308918	140308918	+	Intron	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140308918A>C	ENST00000532602.1	+	2	3427				PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.K814T|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTAAGCAAATTTTATGGA	0.403																																					Melanoma(55;1800 1972 14909)	ENST00000409700.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2440-2442)aAa>aCa									87.0	86.0	87.0					5																	140308918		2203	4300	6503	SO:0001627	intron_variant	0							g.chr5:140308918A>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2395-49616A>C	5.37:g.140308918A>C						PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.K814T	NM_031882.2	NP_114088.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2617	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2441A>C	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.472942	0.63737	.	.	ENSG00000248383	ENST00000409700	T	0.52754	0.65	5.83	-6.02	0.02192	.	.	.	.	.	T	0.20495	0.0493	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15178	-1.0446	9	0.30854	T	0.27	.	5.4975	0.16811	0.1491:0.4507:0.0588:0.3415	.	814	Q9H158-2	.	T	814	ENSP00000386356:K814T	ENSP00000386356:K814T	K	+	2	0	PCDHAC1	140289102	0.562000	0.26586	0.001000	0.08648	0.982000	0.71751	0.011000	0.13264	-1.347000	0.02208	0.460000	0.39030	AAA		0.403	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		41	89	0	0	0	1	0	41	89				
PLCG1	5335	broad.mit.edu	37	20	39800865	39800865	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:39800865G>A	ENST00000373271.1	+	25	3246	c.2841G>A	c.(2839-2841)aaG>aaA	p.K947K	PLCG1_ENST00000244007.3_Silent_p.K947K|PLCG1_ENST00000373272.2_Silent_p.K947K	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	947					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AACGGAGGAAGAAGATTGCCC	0.592																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2839-2841)aaG>aaA		phospholipase C, gamma 1							158.0	144.0	149.0					20																	39800865		2203	4300	6503	SO:0001819	synonymous_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39800865G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2841G>A	20.37:g.39800865G>A						PLCG1_ENST00000244007.3_Silent_p.K947K|PLCG1_ENST00000373271.1_Silent_p.K947K	p.K947K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			25	3246	+		Myeloproliferative disorder(115;0.00878)	947					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	c.2841G>A	CCDS13314.1																																																																																				0.592	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		27	177	0	0	0	1	0	27	177				
ZNF257	113835	broad.mit.edu	37	19	22271895	22271895	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22271895G>A	ENST00000594947.1	+	4	1487	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACCTTATTCGACATAAGATA	0.378																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(1342-1344)cGa>cAa		zinc finger protein 257							44.0	49.0	48.0					19																	22271895		2116	4248	6364	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271895G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1343G>A	19.37:g.22271895G>A	ENSP00000470209:p.Arg448Gln						p.R448Q	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	1487	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	448					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1343G>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.339659	0.01277	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17238	0.0414	L	0.28776	0.89	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.33343	-0.9872	8	0.10377	T	0.69	.	0.5648	0.00685	0.3657:0.272:0.1925:0.1697	.	448	Q9Y2Q1	ZN257_HUMAN	Q	448;420	.	ENSP00000380312:R420Q	R	+	2	0	ZNF257	22063735	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-14.913000	0.00000	-1.382000	0.02109	-0.657000	0.03884	CGA		0.378	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			20	28	0	0	0	1	0	20	28				
DCLK3	85443	broad.mit.edu	37	3	36779844	36779844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36779844C>A	ENST00000416516.2	-	2	797	c.307G>T	c.(307-309)Gaa>Taa	p.E103*		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	103						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTACTGGGTTCTGGCTCCCAT	0.582																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(307-309)Gaa>Taa		doublecortin-like kinase 3							117.0	123.0	121.0					3																	36779844		1900	4098	5998	SO:0001587	stop_gained	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779844C>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.307G>T	3.37:g.36779844C>A	ENSP00000394484:p.Glu103*						p.E103*	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	797	-			103						Nonsense_Mutation	SNP	ENST00000416516.2	37	c.307G>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804392	0.96967	.	.	ENSG00000163673	ENST00000416516	.	.	.	4.7	4.7	0.59300	.	0.000000	0.33670	N	0.004677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6609	0.88193	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000394484:E103X	E	-	1	0	DCLK3	36754848	0.935000	0.31712	0.082000	0.20525	0.081000	0.17604	3.415000	0.52700	2.339000	0.79563	0.655000	0.94253	GAA		0.582	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		60	123	1	0	1.13205e-32	1	1.62219e-32	60	123				
MYO5C	55930	broad.mit.edu	37	15	52538226	52538226	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52538226T>A	ENST00000261839.7	-	17	2154	c.1993A>T	c.(1993-1995)Aga>Tga	p.R665*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	665	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAACAATTCTTTTGGAGTCA	0.458																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1993-1995)Aga>Tga		myosin VC							64.0	61.0	62.0					15																	52538226		1894	4110	6004	SO:0001587	stop_gained	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52538226T>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1993A>T	15.37:g.52538226T>A	ENSP00000261839:p.Arg665*					MYO5C_ENST00000443683.2_3'UTR	p.R665*	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	17	2154	-			665			Myosin head-like.		Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	c.1993A>T	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	40	8.358141	0.98777	.	.	ENSG00000128833	ENST00000261839	.	.	.	4.88	2.47	0.30058	.	0.206561	0.44688	D	0.000433	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6572	0.51325	0.0:0.0:0.2916:0.7084	.	.	.	.	X	665	.	ENSP00000261839:R665X	R	-	1	2	MYO5C	50325518	0.988000	0.35896	0.997000	0.53966	0.964000	0.63967	1.258000	0.32944	0.323000	0.23307	0.533000	0.62120	AGA		0.458	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		5	17	0	0	0	1	0	5	17				
TPP2	7174	broad.mit.edu	37	13	103299592	103299592	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103299592A>G	ENST00000376065.4	+	21	2562	c.2526A>G	c.(2524-2526)ctA>ctG	p.L842L	TPP2_ENST00000376052.3_Silent_p.L842L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	842					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGCCCACTACTTTGTGAAC	0.358																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(2524-2526)ctA>ctG		tripeptidyl peptidase II							74.0	74.0	74.0					13																	103299592		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103299592A>G	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2526A>G	13.37:g.103299592A>G						TPP2_ENST00000376065.4_Silent_p.L842L	p.L842L			P29144	TPP2_HUMAN			21	2542	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		842					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.2526A>G	CCDS9502.1																																																																																				0.358	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			8	22	0	0	0	1	0	8	22				
PKN2	5586	broad.mit.edu	37	1	89271369	89271369	+	Intron	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89271369T>G	ENST00000370521.3	+	11	2035				PKN2_ENST00000316005.7_Missense_Mutation_p.I564S|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000370505.3_Intron|PKN2_ENST00000544045.1_Intron	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2						apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GTGTCTGAGATTTTAAGCATC	0.433																																						ENST00000316005.7																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(1690-1692)aTt>aGt		protein kinase N2							36.0	34.0	35.0					1																	89271369		1937	4149	6086	SO:0001627	intron_variant	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89271369T>G	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1676+15T>G	1.37:g.89271369T>G						PKN2_ENST00000370521.3_Intron|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000544045.1_Intron|PKN2_ENST00000370505.3_Intron	p.I564S			Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	11	2050	+		Lung NSC(277;0.123)	0					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.1691T>G	CCDS714.1	.	.	.	.	.	.	.	.	.	.	T	7.151	0.583804	0.13749	.	.	ENSG00000065243	ENST00000316005	T	0.11063	2.81	5.3	2.99	0.34606	.	.	.	.	.	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48198	-0.9056	7	.	.	.	.	3.0367	0.06124	0.1094:0.1525:0.4491:0.289	.	564	B1AL79	.	S	564	ENSP00000317851:I564S	.	I	+	2	0	PKN2	89043957	0.000000	0.05858	0.004000	0.12327	0.917000	0.54804	0.038000	0.13862	0.460000	0.27045	0.482000	0.46254	ATT		0.433	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		9	13	0	0	0	1	0	9	13				
ZC2HC1A	51101	broad.mit.edu	37	8	79601519	79601519	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:79601519A>C	ENST00000263849.4	+	5	517	c.415A>C	c.(415-417)Aat>Cat	p.N139H	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	139							metal ion binding (GO:0046872)	p.N139H(1)									TAGACATATAAATTTCTGTAA	0.338																																						ENST00000263849.4																			1	Substitution - Missense(1)	p.N139H(1)	large_intestine(1)								c.(415-417)Aat>Cat		zinc finger, C2HC-type containing 1A							65.0	67.0	66.0					8																	79601519		2203	4298	6501	SO:0001583	missense	51101							g.chr8:79601519A>C		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.415A>C	8.37:g.79601519A>C	ENSP00000263849:p.Asn139His					ZC2HC1A_ENST00000521176.1_3'UTR	p.N139H	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			5	517	+			139					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.415A>C	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923063	0.73213	.	.	ENSG00000104427	ENST00000263849	T	0.42513	0.97	5.06	5.06	0.68205	.	0.044508	0.85682	D	0.000000	T	0.62295	0.2416	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.63989	-0.6512	9	.	.	.	-20.8762	14.8005	0.69913	1.0:0.0:0.0:0.0	.	139	Q96GY0	F164A_HUMAN	H	139	ENSP00000263849:N139H	.	N	+	1	0	FAM164A	79764074	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.881000	0.75584	1.910000	0.55303	0.260000	0.18958	AAT		0.338	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		13	29	0	0	0	1	0	13	29				
COPS7B	64708	broad.mit.edu	37	2	232660931	232660931	+	Missense_Mutation	SNP	G	G	A	rs147144693		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:232660931G>A	ENST00000350033.3	+	5	584	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	COPS7B_ENST00000373608.3_Missense_Mutation_p.R148Q|COPS7B_ENST00000409091.1_Missense_Mutation_p.R41Q|COPS7B_ENST00000409295.1_Missense_Mutation_p.R114Q|COPS7B_ENST00000410024.1_Missense_Mutation_p.R148Q|COPS7B_ENST00000410017.1_Missense_Mutation_p.R148Q	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	148	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTGGACCAGCGAAACCAGCTG	0.483																																						ENST00000373608.3																			0				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8						c.(442-444)cGa>cAa		COP9 signalosome subunit 7B		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	74.0	77.0		443	5.6	1.0	2	dbSNP_134	77	0,8600		0,0,4300	no	missense	COPS7B	NM_022730.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	148/265	232660931	1,13005	2203	4300	6503	SO:0001583	missense	64708				cullin deneddylation	cytoplasm|signalosome		g.chr2:232660931G>A	AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B"", ""COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"""			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.443G>A	2.37:g.232660931G>A	ENSP00000272995:p.Arg148Gln					COPS7B_ENST00000410024.1_Missense_Mutation_p.R148Q|COPS7B_ENST00000410017.1_Missense_Mutation_p.R148Q|COPS7B_ENST00000409295.1_Missense_Mutation_p.R114Q|COPS7B_ENST00000409091.1_Missense_Mutation_p.R41Q|COPS7B_ENST00000350033.3_Missense_Mutation_p.R148Q	p.R148Q			Q9H9Q2	CSN7B_HUMAN		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	5	550	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)	148			PCI.		Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	ENST00000350033.3	37	c.443G>A	CCDS2488.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197327	0.79015	2.27E-4	0.0	ENSG00000144524	ENST00000410024;ENST00000409295;ENST00000409091;ENST00000350033;ENST00000412591;ENST00000410017;ENST00000373608;ENST00000537799;ENST00000449174	T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.57	5.57	0.84162	Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	N	0.19112	0.55	0.80722	D	1	D;B;D	0.69078	0.985;0.289;0.997	P;B;D	0.72982	0.566;0.057;0.979	T	0.09997	-1.0649	10	0.11794	T	0.64	-15.501	19.5418	0.95277	0.0:0.0:1.0:0.0	.	148;148;148	Q53GQ2;Q9H9Q2-3;Q9H9Q2	.;.;CSN7B_HUMAN	Q	148;114;41;148;93;148;148;41;12	ENSP00000386567:R148Q;ENSP00000386438:R114Q;ENSP00000386527:R41Q;ENSP00000272995:R148Q;ENSP00000412548:R93Q;ENSP00000386880:R148Q;ENSP00000362710:R148Q	ENSP00000272995:R148Q	R	+	2	0	COPS7B	232369175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.971000	0.88012	2.610000	0.88304	0.655000	0.94253	CGA		0.483	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	NM_022730		31	33	0	0	0	1	0	31	33				
ZNF28	7576	broad.mit.edu	37	19	53303889	53303889	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53303889C>T	ENST00000457749.2	-	4	1328	c.1209G>A	c.(1207-1209)agG>agA	p.R403R	ZNF28_ENST00000360272.4_Silent_p.R350R|ZNF28_ENST00000414252.2_Silent_p.R350R|ZNF28_ENST00000438150.2_Silent_p.R350R	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	403				R -> T (in Ref. 1; BAD18706 and 2; CAI46258). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAGTATGAATCCTCTTATGTC	0.373																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1048-1050)agG>agA		zinc finger protein 28							105.0	111.0	109.0					19																	53303889		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303889C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1209G>A	19.37:g.53303889C>T						ZNF28_ENST00000414252.2_Silent_p.R350R|ZNF28_ENST00000457749.2_Silent_p.R403R|ZNF28_ENST00000360272.4_Silent_p.R350R	p.R350R			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1943	-			403					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.1050G>A	CCDS33093.2																																																																																				0.373	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		41	83	0	0	0	1	0	41	83				
RGS20	8601	broad.mit.edu	37	8	54791868	54791868	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:54791868C>T	ENST00000297313.3	+	2	308	c.216C>T	c.(214-216)ttC>ttT	p.F72F	RGS20_ENST00000276500.4_5'Flank|RGS20_ENST00000344277.6_Intron|RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000522225.1_5'Flank	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	72					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CGAAGCTGTTCGGCCTCCTTT	0.647																																						ENST00000297313.3																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(214-216)ttC>ttT		regulator of G-protein signaling 20							97.0	122.0	113.0					8																	54791868		2203	4300	6503	SO:0001819	synonymous_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54791868C>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.216C>T	8.37:g.54791868C>T						RGS20_ENST00000344277.6_Intron	p.F72F	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		2	308	+			72					Q96BG9	Silent	SNP	ENST00000297313.3	37	c.216C>T	CCDS6155.1																																																																																				0.647	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			68	158	0	0	0	1	0	68	158				
SACS	26278	broad.mit.edu	37	13	23932558	23932558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23932558C>A	ENST00000382292.3	-	6	793	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	SACS_ENST00000382298.3_Nonsense_Mutation_p.E174*|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	174					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTGCTATTTCTTGAATGCCG	0.438																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(520-522)Gaa>Taa		spastic ataxia of Charlevoix-Saguenay (sacsin)							161.0	156.0	158.0					13																	23932558		2203	4300	6503	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23932558C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.520G>T	13.37:g.23932558C>A	ENSP00000371729:p.Glu174*					SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Nonsense_Mutation_p.E174*	p.E174*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	7	1108	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	174					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.520G>T	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.186014|8.186014	0.98696|0.98696	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298|ENST00000455470	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76328	.|0.3972	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74917	.|-0.3501	.|3	0.11794|.	T|.	0.64|.	.|.	19.4157|19.4157	0.94697|0.94697	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	174|73	.|.	ENSP00000371729:E174X|.	E|R	-|-	1|2	0|0	SACS|SACS	22830558|22830558	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.981000|0.981000	0.71138|0.71138	7.785000|7.785000	0.85724|0.85724	2.589000|2.589000	0.87451|0.87451	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.438	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		47	73	1	0	2.14642e-42	1	3.10745e-42	47	73				
PLS1	5357	broad.mit.edu	37	3	142395077	142395077	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142395077T>C	ENST00000337777.3	+	5	656	c.443T>C	c.(442-444)aTg>aCg	p.M148T	RN7SKP25_ENST00000362449.1_RNA|PLS1_ENST00000457734.2_Missense_Mutation_p.M148T|PLS1_ENST00000497002.1_Missense_Mutation_p.M148T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	148	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTATACCCATGAATCCCAAT	0.413																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(442-444)aTg>aCg		plastin 1							189.0	172.0	178.0					3																	142395077		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142395077T>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.443T>C	3.37:g.142395077T>C	ENSP00000336831:p.Met148Thr					PLS1_ENST00000457734.2_Missense_Mutation_p.M148T|PLS1_ENST00000497002.1_Missense_Mutation_p.M148T	p.M148T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			5	656	+			148			Actin-binding 1.|CH 1.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.443T>C	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588296	0.66105	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	5.94	5.94	0.96194	Calponin homology domain (5);	0.076380	0.85682	D	0.000000	D	0.93245	0.7848	L	0.50333	1.59	0.58432	D	0.999991	B	0.20459	0.045	B	0.28849	0.095	D	0.90648	0.4580	10	0.87932	D	0	-20.0173	16.3908	0.83537	0.0:0.0:0.0:1.0	.	148	Q14651	PLSI_HUMAN	T	148;69;148;148	ENSP00000387890:M148T;ENSP00000417481:M69T;ENSP00000336831:M148T;ENSP00000418700:M148T	ENSP00000336831:M148T	M	+	2	0	PLS1	143877767	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	6.249000	0.72427	2.269000	0.75478	0.455000	0.32223	ATG		0.413	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		34	79	0	0	0	1	0	34	79				
BCLAF1	9774	broad.mit.edu	37	6	136590607	136590607	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136590607A>C	ENST00000531224.1	-	9	2439	c.2187T>G	c.(2185-2187)gaT>gaG	p.D729E	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D727E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D727E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D729E|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D556E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D727E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	729					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTCCTTGTAATCTTTTGGAG	0.363																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2185-2187)gaT>gaG		BCL2-associated transcription factor 1							110.0	105.0	106.0					6																	136590607		2203	4299	6502	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590607A>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2187T>G	6.37:g.136590607A>C	ENSP00000435210:p.Asp729Glu					BCLAF1_ENST00000353331.4_Missense_Mutation_p.D727E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D556E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D727E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D729E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D727E|BCLAF1_ENST00000529917.1_5'UTR	p.D729E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	9	2439	-	Colorectal(23;0.24)		729					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2187T>G	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.852|5.852	0.341427|0.341427	0.11069|0.11069	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348|ENST00000534762	T;T;T;T;T;T|.	0.12879|.	2.64;2.64;2.64;2.64;2.64;2.64|.	4.86|4.86	3.68|3.68	0.42216|0.42216	.|.	0.211460|.	0.32503|.	N|.	0.006007|.	T|T	0.16727|0.16727	0.0402|0.0402	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.25772|.	0.071;0.134;0.071;0.106|.	B;B;B;B|.	0.25291|.	0.032;0.059;0.032;0.027|.	T|T	0.05007|0.05007	-1.0912|-1.0912	10|5	0.22109|.	T|.	0.4|.	-3.0094|-3.0094	7.3315|7.3315	0.26586|0.26586	0.7056:0.1505:0.0:0.1439|0.7056:0.1505:0.0:0.1439	.|.	727;727;729;556|.	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;BCLF1_HUMAN;.|.	E|V	729;727;729;556;727;727|18	ENSP00000435210:D729E;ENSP00000229446:D727E;ENSP00000435441:D729E;ENSP00000436501:D556E;ENSP00000434826:D727E;ENSP00000376159:D727E|.	ENSP00000229446:D727E|.	D|L	-|-	3|1	2|2	BCLAF1|BCLAF1	136632300|136632300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.080000|3.080000	0.50112|0.50112	0.797000|0.797000	0.33971|0.33971	0.482000|0.482000	0.46254|0.46254	GAT|TTA		0.363	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		4	69	0	0	0	1	0	4	69				
SPRR2D	6703	broad.mit.edu	37	1	153012694	153012694	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:153012694C>T	ENST00000368757.1	-	2	409	c.129G>A	c.(127-129)caG>caA	p.Q43Q	SPRR2D_ENST00000360379.3_Silent_p.Q43Q|SPRR2D_ENST00000368758.3_Silent_p.Q43Q|SPRR2D_ENST00000368756.1_Silent_p.Q43Q			P22532	SPR2D_HUMAN	small proline-rich protein 2D	43	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGGCAGGGCTGTGGACACT	0.617																																						ENST00000368757.1																			0				endometrium(1)|skin(1)	2						c.(127-129)caG>caA		small proline-rich protein 2D							177.0	156.0	163.0					1																	153012694		2203	4297	6500	SO:0001819	synonymous_variant	6703				keratinization	cornified envelope|cytoplasm		g.chr1:153012694C>T	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.129G>A	1.37:g.153012694C>T						SPRR2D_ENST00000368756.1_Silent_p.Q43Q|SPRR2D_ENST00000368758.3_Silent_p.Q43Q|SPRR2D_ENST00000360379.3_Silent_p.Q43Q	p.Q43Q			P22532	SPR2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	409	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		43			3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].		A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Silent	SNP	ENST00000368757.1	37	c.129G>A	CCDS30864.1																																																																																				0.617	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			25	176	0	0	0	1	0	25	176				
AGAP11	119385	broad.mit.edu	37	10	88761434	88761434	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88761434G>A	ENST00000444431.1	+	0	2564				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GCTCGTGTTCGACAATATTCC	0.383																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							91.0	95.0	94.0					10																	88761434		2203	4296	6499			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88761434G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88761434G>A						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	2564	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.383	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		34	57	0	0	0	1	0	34	57				
DEPDC7	91614	broad.mit.edu	37	11	33054270	33054270	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33054270A>C	ENST00000241051.3	+	7	1286	c.1194A>C	c.(1192-1194)aaA>aaC	p.K398N	DEPDC7_ENST00000311388.3_Missense_Mutation_p.K389N	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	398					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTGACAATAAAAATTTATCCA	0.274																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(1165-1167)aaA>aaC		DEP domain containing 7							70.0	73.0	72.0					11																	33054270		1792	4064	5856	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33054270A>C		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.1194A>C	11.37:g.33054270A>C	ENSP00000241051:p.Lys398Asn					DEPDC7_ENST00000241051.3_Missense_Mutation_p.K398N	p.K389N	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			7	1543	+			398					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.1167A>C	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223109	0.58668	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.64085	-0.08;-0.08	5.52	5.52	0.82312	.	0.092424	0.85682	D	0.000000	T	0.75443	0.3850	M	0.73598	2.24	0.43076	D	0.994722	D;D	0.89917	1.0;0.999	D;D	0.80764	0.973;0.994	T	0.75079	-0.3444	10	0.32370	T	0.25	-12.3591	10.0639	0.42292	0.9248:0.0:0.0752:0.0	.	389;398	G5E941;Q96QD5	.;DEPD7_HUMAN	N	398;389	ENSP00000241051:K398N;ENSP00000308971:K389N	ENSP00000241051:K398N	K	+	3	2	DEPDC7	33010846	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.298000	0.51818	2.077000	0.62373	0.377000	0.23210	AAA		0.274	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		27	45	0	0	0	1	0	27	45				
ZMYM4	9202	broad.mit.edu	37	1	35836059	35836059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35836059C>T	ENST00000314607.6	+	7	1092	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.R338*|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	338					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACAGCTGTTCGAGTTTCCTG	0.458																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1012-1014)Cga>Tga		zinc finger, MYM-type 4							56.0	59.0	58.0					1																	35836059		2203	4300	6503	SO:0001587	stop_gained	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35836059C>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1012C>T	1.37:g.35836059C>T	ENSP00000322915:p.Arg338*					ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.R338*	p.R338*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			7	1092	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	338					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	ENST00000314607.6	37	c.1012C>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961700|3.961700	0.74016|0.74016	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.143149|.	0.46442|.	D|.	0.000289|.	.|T	.|0.65709	.|0.2717	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69818	.|-0.5042	.|3	0.02654|.	T|.	1|.	-6.6526|-6.6526	14.3252|14.3252	0.66515|0.66515	0.1483:0.8517:0.0:0.0|0.1483:0.8517:0.0:0.0	.|.	.|.	.|.	.|.	X|L	338|86	.|.	ENSP00000322915:R338X|.	R|S	+|+	1|2	2|0	ZMYM4|ZMYM4	35608646|35608646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.185000|2.185000	0.42584|0.42584	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.458	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		18	32	0	0	0	1	0	18	32				
TIA1	7072	broad.mit.edu	37	2	70441492	70441492	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:70441492C>A	ENST00000433529.2	-	12	1233	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	TIA1_ENST00000282574.4_Missense_Mutation_p.Q340H|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000445587.1_Intron|TIA1_ENST00000482876.1_5'Flank|TIA1_ENST00000415783.2_Missense_Mutation_p.Q330H	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	341					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TAAATCCTTGCTGGTTCCATG	0.378																																						ENST00000433529.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(1021-1023)caG>caT		TIA1 cytotoxic granule-associated RNA binding protein							111.0	98.0	103.0					2																	70441492		2203	4300	6503	SO:0001583	missense	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70441492C>A		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.1023G>T	2.37:g.70441492C>A	ENSP00000401371:p.Gln341His					TIA1_ENST00000445587.1_Intron|TIA1_ENST00000415783.2_Missense_Mutation_p.Q330H|TIA1_ENST00000282574.4_Missense_Mutation_p.Q340H|C2orf42_ENST00000470096.1_Intron	p.Q341H	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN			12	1233	-			341					Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	c.1023G>T	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419721	0.62622	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000454815	T;T;T;T	0.38077	1.61;1.81;1.7;1.16	5.07	-2.18	0.07037	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.91635	0.999;0.94	T	0.42716	-0.9435	10	0.20046	T	0.44	-3.1167	11.543	0.50677	0.0:0.482:0.0:0.518	.	330;341	P31483-2;P31483	.;TIA1_HUMAN	H	341;330;418;340;112	ENSP00000401371:Q341H;ENSP00000404023:Q330H;ENSP00000282574:Q340H;ENSP00000402263:Q112H	ENSP00000282574:Q340H	Q	-	3	2	TIA1	70294996	1.000000	0.71417	0.982000	0.44146	0.972000	0.66771	0.990000	0.29642	-0.309000	0.08779	-0.291000	0.09656	CAG		0.378	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		14	21	1	0	6.72482e-11	1	8.31618e-11	14	21				
HTR1B	3351	broad.mit.edu	37	6	78172749	78172749	+	Missense_Mutation	SNP	G	G	T	rs369054681		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:78172749G>T	ENST00000369947.2	-	1	741	c.372C>A	c.(370-372)ttC>ttA	p.F124L		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	124			F -> C (in dbSNP:rs130060). {ECO:0000269|PubMed:7802650}.		adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACGACAGCCAGAAGTCACAGA	0.612																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(370-372)ttC>ttA		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						97.0	76.0	83.0					6																	78172749		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172749G>T	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.372C>A	6.37:g.78172749G>T	ENSP00000358963:p.Phe124Leu						p.F124L	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	741	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	124		F -> C (in dbSNP:rs130060).			Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.372C>A	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	8.680	0.904858	0.17760	.	.	ENSG00000135312	ENST00000369947	T	0.34667	1.35	5.27	-1.34	0.09143	GPCR, rhodopsin-like superfamily (1);	0.238547	0.41001	N	0.000971	T	0.06917	0.0176	N	0.11756	0.17	0.41665	D	0.989201	B	0.02656	0.0	B	0.04013	0.001	T	0.28650	-1.0037	9	.	.	.	.	12.8192	0.57683	0.0:0.5374:0.2428:0.2198	.	124	P28222	5HT1B_HUMAN	L	124	ENSP00000358963:F124L	.	F	-	3	2	HTR1B	78229468	1.000000	0.71417	0.979000	0.43373	0.994000	0.84299	0.800000	0.27042	-0.478000	0.06823	0.561000	0.74099	TTC		0.612	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		33	76	1	0	4.11147e-13	1	5.25189e-13	33	76				
SAV1	60485	broad.mit.edu	37	14	51132015	51132015	+	Missense_Mutation	SNP	A	A	C	rs147005969	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51132015A>C	ENST00000324679.4	-	2	780	c.417T>G	c.(415-417)ttT>ttG	p.F139L	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	139					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GACCATCAAAAAAATTGTCTG	0.393													A|||	2	0.000399361	0.0008	0.0	5008	,	,		17227	0.0		0.001	False		,,,				2504	0.0					ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(415-417)ttT>ttG		salvador homolog 1 (Drosophila)		A	LEU/PHE	1,4405	2.1+/-5.4	0,1,2202	85.0	82.0	83.0		417	5.5	1.0	14	dbSNP_134	83	25,8571	17.3+/-56.4	0,25,4273	no	missense	SAV1	NM_021818.2	22	0,26,6475	CC,CA,AA		0.2908,0.0227,0.2	benign	139/384	51132015	26,12976	2203	4298	6501	SO:0001583	missense	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51132015A>C	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.417T>G	14.37:g.51132015A>C	ENSP00000324729:p.Phe139Leu						p.F139L	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN			2	780	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		139					A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	37	c.417T>G	CCDS9701.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	14.22	2.469326	0.43839	2.27E-4	0.002908	ENSG00000151748	ENST00000555720;ENST00000324679;ENST00000535862;ENST00000553731	T;T	0.47528	0.84;0.91	5.49	5.49	0.81192	.	0.222920	0.48286	D	0.000191	T	0.28167	0.0695	L	0.27053	0.805	0.38412	D	0.945969	B	0.02656	0.0	B	0.04013	0.001	T	0.22977	-1.0201	10	0.12766	T	0.61	-10.6858	4.6845	0.12752	0.7399:0.0:0.0912:0.1689	.	139	Q9H4B6	SAV1_HUMAN	L	71;139;106;23	ENSP00000451492:F71L;ENSP00000324729:F139L	ENSP00000324729:F139L	F	-	3	2	SAV1	50201765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.922000	0.40045	2.081000	0.62600	0.460000	0.39030	TTT		0.393	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			28	29	0	0	0	1	0	28	29				
NCAM2	4685	broad.mit.edu	37	21	22790860	22790860	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:22790860G>T	ENST00000400546.1	+	11	1700	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	NCAM2_ENST00000284894.7_Missense_Mutation_p.R342I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	484	Ig-like C2-type 5.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATAGGAACAAGATTTCAAGAA	0.308																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1450-1452)aGa>aTa		neural cell adhesion molecule 2							107.0	105.0	105.0					21																	22790860		1830	4082	5912	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22790860G>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1451G>T	21.37:g.22790860G>T	ENSP00000383392:p.Arg484Ile					NCAM2_ENST00000284894.7_Missense_Mutation_p.R342I	p.R484I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	11	1700	+		Lung NSC(9;0.195)	484			Ig-like C2-type 5.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1451G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729699	0.89390	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.67523	-0.27;-0.27	5.07	5.07	0.68467	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	L	0.57130	1.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81581	-0.0867	10	0.72032	D	0.01	-31.2043	17.0099	0.86403	0.0:0.0:1.0:0.0	.	342;484	B7Z5K2;O15394	.;NCAM2_HUMAN	I	484;342	ENSP00000383392:R484I;ENSP00000284894:R342I	ENSP00000284894:R342I	R	+	2	0	NCAM2	21712731	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.881000	0.69706	2.359000	0.80004	0.467000	0.42956	AGA		0.308	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		24	42	1	0	4.4004e-07	1	5.01286e-07	24	42				
CARTPT	9607	broad.mit.edu	37	5	71015769	71015769	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71015769G>T	ENST00000296777.4	+	2	353	c.222G>T	c.(220-222)aaG>aaT	p.K74N	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	74					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TCTATGAGAAGAAGTATGGCC	0.498																																						ENST00000296777.4																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(220-222)aaG>aaT		CART prepropeptide	Amphetamine(DB00182)						180.0	159.0	166.0					5																	71015769		2203	4300	6503	SO:0001583	missense	9607				activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		g.chr5:71015769G>T	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"""cocaine and amphetamine regulated transcript"""	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.222G>T	5.37:g.71015769G>T	ENSP00000296777:p.Lys74Asn					CARTPT_ENST00000513096.1_3'UTR	p.K74N	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	2	353	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	74					Q6FG92	Missense_Mutation	SNP	ENST00000296777.4	37	c.222G>T	CCDS4011.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884196	0.72410	.	.	ENSG00000164326	ENST00000296777	T	0.61158	0.13	5.02	3.94	0.45596	.	0.051827	0.85682	D	0.000000	T	0.69895	0.3162	M	0.64997	1.995	0.51767	D	0.999932	D	0.76494	0.999	D	0.87578	0.998	T	0.72151	-0.4377	10	0.87932	D	0	.	9.7384	0.40401	0.1825:0.0:0.8175:0.0	.	74	Q16568	CART_HUMAN	N	74	ENSP00000296777:K74N	ENSP00000296777:K74N	K	+	3	2	CARTPT	71051525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.962000	0.70364	2.340000	0.79590	0.655000	0.94253	AAG		0.498	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	NM_004291		27	56	1	0	7.26314e-15	1	9.49782e-15	27	56				
TTC26	79989	broad.mit.edu	37	7	138845780	138845780	+	Intron	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138845780T>G	ENST00000464848.1	+	8	872				TTC26_ENST00000481482.1_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000474035.2_Missense_Mutation_p.D268E|TTC26_ENST00000343187.4_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26						cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TGAATAACGATTTCCCGTCTT	0.393																																						ENST00000474035.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(802-804)gaT>gaG		tetratricopeptide repeat domain 26							85.0	76.0	79.0					7																	138845780		2203	4300	6503	SO:0001627	intron_variant	79989						binding	g.chr7:138845780T>G	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.792+12T>G	7.37:g.138845780T>G						TTC26_ENST00000343187.4_Intron|TTC26_ENST00000481482.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000464848.1_Intron|TTC26_ENST00000495038.1_Intron	p.D268E			A0AVF1	TTC26_HUMAN			8	884	+			384					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.804T>G	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.690065	0.29962	.	.	ENSG00000105948	ENST00000474035	.	.	.	4.53	-0.946	0.10385	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.20975	N	0.999813	B	0.06786	0.001	B	0.06405	0.002	T	0.34079	-0.9843	7	0.02654	T	1	.	0.6239	0.00783	0.2642:0.1885:0.1198:0.4275	.	268	Q96CU4	.	E	268	.	ENSP00000443253:D268E	D	+	3	2	TTC26	138496320	0.033000	0.19621	0.005000	0.12908	0.211000	0.24417	-0.228000	0.09114	0.202000	0.20498	0.459000	0.35465	GAT		0.393	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		7	15	0	0	0	1	0	7	15				
FAM135A	57579	broad.mit.edu	37	6	71235797	71235797	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71235797A>C	ENST00000418814.2	+	15	3624	c.3010A>C	c.(3010-3012)Aat>Cat	p.N1004H	FAM135A_ENST00000361499.3_Missense_Mutation_p.N808H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N791H|FAM135A_ENST00000505868.1_Missense_Mutation_p.N1004H|FAM135A_ENST00000370479.3_Missense_Mutation_p.N791H|FAM135A_ENST00000505769.1_Missense_Mutation_p.N584H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1004										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGATGTATTAAATCTCACACA	0.348																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(3010-3012)Aat>Cat		family with sequence similarity 135, member A							42.0	43.0	43.0					6																	71235797		2201	4299	6500	SO:0001583	missense	57579							g.chr6:71235797A>C	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3010A>C	6.37:g.71235797A>C	ENSP00000410768:p.Asn1004His					FAM135A_ENST00000370479.3_Missense_Mutation_p.N791H|FAM135A_ENST00000361499.3_Missense_Mutation_p.N808H|FAM135A_ENST00000505868.1_Missense_Mutation_p.N1004H|FAM135A_ENST00000505769.1_Missense_Mutation_p.N584H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N791H	p.N1004H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	3624	+			1004					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.3010A>C	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	3.204	-0.163182	0.06502	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.24723	2.16;2.16;1.84;2.16;2.16;2.15	5.96	-3.04	0.05412	.	0.607210	0.19059	N	0.123834	T	0.07503	0.0189	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.09022	0.001;0.0;0.002;0.001	B;B;B;B	0.09377	0.004;0.002;0.003;0.004	T	0.35201	-0.9798	10	0.48119	T	0.1	.	7.8678	0.29547	0.1749:0.2968:0.5284:0.0	.	1004;1004;808;791	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	H	1004;791;584;791;808;1004	ENSP00000410768:N1004H;ENSP00000359510:N791H;ENSP00000423785:N584H;ENSP00000409201:N791H;ENSP00000354913:N808H;ENSP00000423307:N1004H	ENSP00000354913:N808H	N	+	1	0	FAM135A	71292518	0.984000	0.35163	0.000000	0.03702	0.028000	0.11728	2.794000	0.47853	-0.403000	0.07622	-0.250000	0.11733	AAT		0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		18	16	0	0	0	1	0	18	16				
SSH2	85464	broad.mit.edu	37	17	27959445	27959445	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27959445G>A	ENST00000269033.3	-	15	2837	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	SSH2_ENST00000540801.1_Missense_Mutation_p.R923C|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	896					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATTCTTACGAGTGGACAAT	0.512																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2686-2688)Cgt>Tgt		slingshot protein phosphatase 2							179.0	187.0	184.0					17																	27959445		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959445G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2686C>T	17.37:g.27959445G>A	ENSP00000269033:p.Arg896Cys					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R923C	p.R896C	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	2837	-			896					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2686C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543792	0.65198	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.21932	2.01;1.98	5.97	5.0	0.66597	.	0.883551	0.10210	N	0.702237	T	0.45054	0.1323	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.12811	-1.0533	10	0.87932	D	0	-12.3375	9.8953	0.41316	0.0692:0.0:0.7923:0.1385	.	923;896	F5H527;Q76I76	.;SSH2_HUMAN	C	896;923	ENSP00000269033:R896C;ENSP00000444743:R923C	ENSP00000269033:R896C	R	-	1	0	SSH2	24983571	1.000000	0.71417	0.910000	0.35882	0.987000	0.75469	5.229000	0.65316	1.544000	0.49359	0.579000	0.79373	CGT		0.512	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		76	138	0	0	0	1	0	76	138				
SMC4	10051	broad.mit.edu	37	3	160120524	160120524	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160120524C>A	ENST00000357388.3	+	4	830	c.379C>A	c.(379-381)Ctt>Att	p.L127I	MIR16-2_ENST00000362117.1_RNA|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.L127I|SMC4_ENST00000344722.5_Missense_Mutation_p.L127I|SMC4_ENST00000462787.1_Missense_Mutation_p.L127I|SMC4_ENST00000469762.1_Missense_Mutation_p.L102I|MIR15B_ENST00000385045.1_RNA	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	127					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATTCTATGCTTTTTGTGTT	0.338																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(379-381)Ctt>Att		structural maintenance of chromosomes 4							99.0	104.0	102.0					3																	160120524		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160120524C>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.379C>A	3.37:g.160120524C>A	ENSP00000349961:p.Leu127Ile					SMC4_ENST00000360111.2_Missense_Mutation_p.L127I|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.L127I|SMC4_ENST00000469762.1_Missense_Mutation_p.L102I|SMC4_ENST00000344722.5_Missense_Mutation_p.L127I	p.L127I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		4	830	+			127					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.379C>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284437	0.95517	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T;T;T;T	0.10382	3.24;2.88;3.24;3.24;2.88;3.24;3.24;2.88;3.24;2.88;3.24;3.24;2.88	5.38	5.38	0.77491	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.63501	-0.6623	10	0.56958	D	0.05	-14.1424	19.1303	0.93402	0.0:1.0:0.0:0.0	.	127;102;127	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	I	127;127;127;127;127;127;2;2;102;127;127;127;55;127	ENSP00000418820:L127I;ENSP00000349961:L127I;ENSP00000419247:L127I;ENSP00000420644:L127I;ENSP00000353225:L127I;ENSP00000417999:L2I;ENSP00000419360:L2I;ENSP00000417964:L102I;ENSP00000420121:L127I;ENSP00000420734:L127I;ENSP00000420817:L127I;ENSP00000417612:L55I;ENSP00000341382:L127I	ENSP00000341382:L127I	L	+	1	0	SMC4	161603218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.724000	0.84798	2.514000	0.84764	0.491000	0.48974	CTT		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			24	45	1	0	1.10923e-09	1	1.34134e-09	24	45				
SPEF2	79925	broad.mit.edu	37	5	35771815	35771815	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35771815A>C	ENST00000356031.3	+	27	4060	c.3906A>C	c.(3904-3906)aaA>aaC	p.K1302N	SPEF2_ENST00000440995.2_Missense_Mutation_p.K1297N|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1302					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAGTCAAAAAGGAGCCAC	0.408																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3889-3891)aaA>aaC		sperm flagellar 2							52.0	55.0	54.0					5																	35771815		1807	4066	5873	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35771815A>C	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3906A>C	5.37:g.35771815A>C	ENSP00000348314:p.Lys1302Asn					SPEF2_ENST00000356031.3_Missense_Mutation_p.K1302N|CTD-2113L7.1_ENST00000510433.1_RNA	p.K1297N			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		27	3891	+	all_lung(31;7.56e-05)		1302					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3891A>C	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174415	0.38413	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.07688	3.2;3.17	5.68	1.73	0.24493	.	0.181411	0.45126	D	0.000390	T	0.13884	0.0336	L	0.56769	1.78	0.80722	D	1	D;P	0.57257	0.979;0.906	P;P	0.56563	0.801;0.521	T	0.14117	-1.0484	10	0.22706	T	0.39	.	6.3955	0.21611	0.5574:0.0:0.4426:0.0	.	1297;1302	Q9C093-2;Q9C093	.;SPEF2_HUMAN	N	1302;1297	ENSP00000348314:K1302N;ENSP00000412125:K1297N	ENSP00000348314:K1302N	K	+	3	2	SPEF2	35807572	1.000000	0.71417	0.925000	0.36789	0.026000	0.11368	0.779000	0.26746	0.537000	0.28751	0.482000	0.46254	AAA		0.408	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	27	0	0	0	1	0	3	27				
PCLO	27445	broad.mit.edu	37	7	82544538	82544538	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82544538A>C	ENST00000333891.9	-	7	13101	c.12764T>G	c.(12763-12765)tTt>tGt	p.F4255C	PCLO_ENST00000437081.1_Missense_Mutation_p.F975C|PCLO_ENST00000423517.2_Missense_Mutation_p.F4255C	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGATCCCATAAATTTTTGTTG	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12763-12765)tTt>tGt		piccolo presynaptic cytomatrix protein							27.0	27.0	27.0					7																	82544538		1854	4106	5960	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544538A>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12764T>G	7.37:g.82544538A>C	ENSP00000334319:p.Phe4255Cys					PCLO_ENST00000333891.8_Missense_Mutation_p.F4255C|PCLO_ENST00000437081.1_Missense_Mutation_p.F975C	p.F4255C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	13101	-			4186			Ser-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.12764T>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162573	0.38217	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.19105	2.17;2.17	5.92	5.92	0.95590	.	.	.	.	.	T	0.37679	0.1012	L	0.53249	1.67	0.38335	D	0.943905	D;D;D	0.76494	0.988;0.999;0.999	P;D;D	0.63192	0.533;0.912;0.912	T	0.35126	-0.9801	9	0.87932	D	0	.	11.2086	0.48784	0.8308:0.0:0.0:0.1692	.	4186;4255;4255	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	4255;4255;975	ENSP00000334319:F4255C;ENSP00000388393:F4255C	ENSP00000334319:F4255C	F	-	2	0	PCLO	82382474	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	3.577000	0.53885	2.266000	0.75297	0.455000	0.32223	TTT		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	19	0	0	0	1	0	8	19				
TRMT11	60487	broad.mit.edu	37	6	126314910	126314910	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:126314910A>G	ENST00000334379.5	+	2	201	c.80A>G	c.(79-81)aAg>aGg	p.K27R	TRMT11_ENST00000450358.1_Missense_Mutation_p.K27R|TRMT11_ENST00000368332.3_Missense_Mutation_p.K27R|TRMT11_ENST00000489934.1_Intron	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	27					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CAGGAAATAAAGTCTTTGCTT	0.299																																						ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(79-81)aAg>aGg		tRNA methyltransferase 11 homolog (S. cerevisiae)							60.0	63.0	62.0					6																	126314910		2203	4296	6499	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126314910A>G	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.80A>G	6.37:g.126314910A>G	ENSP00000333934:p.Lys27Arg					TRMT11_ENST00000450358.1_Missense_Mutation_p.K27R|TRMT11_ENST00000368332.3_Missense_Mutation_p.K27R|TRMT11_ENST00000489934.1_Intron	p.K27R	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	2	201	+			27					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.80A>G	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852921	0.32699	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332	T;T;T	0.44083	0.93;0.93;0.93	4.82	3.63	0.41609	.	0.207239	0.47852	D	0.000213	T	0.19725	0.0474	L	0.56769	1.78	0.35587	D	0.806755	B;B	0.27559	0.003;0.181	B;B	0.20767	0.006;0.031	T	0.03993	-1.0986	10	0.25751	T	0.34	-10.7142	11.7623	0.51910	0.7043:0.2957:0.0:0.0	.	27;27	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	R	27	ENSP00000333934:K27R;ENSP00000405140:K27R;ENSP00000357316:K27R	ENSP00000333934:K27R	K	+	2	0	TRMT11	126356603	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.128000	0.50492	0.742000	0.32697	0.383000	0.25322	AAG		0.299	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		14	17	0	0	0	1	0	14	17				
SNX24	28966	broad.mit.edu	37	5	122281828	122281828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122281828C>T	ENST00000261369.4	+	3	408	c.223C>T	c.(223-225)Cga>Tga	p.R75*	SNX24_ENST00000395451.4_Nonsense_Mutation_p.R108*|SNX24_ENST00000513881.1_Nonsense_Mutation_p.R75*|SNX24_ENST00000506996.1_Nonsense_Mutation_p.R75*|SNX24_ENST00000511211.1_3'UTR	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	75	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GGAACAGCGACGACAAGGCTT	0.343																																						ENST00000261369.4																			0				lung(5)	5						c.(223-225)Cga>Tga		sorting nexin 24							52.0	56.0	55.0					5																	122281828		2203	4300	6503	SO:0001587	stop_gained	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122281828C>T	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.223C>T	5.37:g.122281828C>T	ENSP00000261369:p.Arg75*					SNX24_ENST00000506996.1_Nonsense_Mutation_p.R75*|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000395451.4_Nonsense_Mutation_p.R108*|SNX24_ENST00000513881.1_Nonsense_Mutation_p.R75*	p.R75*	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	3	408	+		Prostate(80;0.0387)	75			PX.		Q6UY33	Nonsense_Mutation	SNP	ENST00000261369.4	37	c.223C>T	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138749	0.97315	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	.	.	.	5.86	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0748	15.537	0.76011	0.2516:0.7484:0.0:0.0	.	.	.	.	X	75;75;108;75	.	ENSP00000261369:R75X	R	+	1	2	SNX24	122309727	0.992000	0.36948	0.990000	0.47175	0.996000	0.88848	2.813000	0.48002	0.863000	0.35553	0.650000	0.86243	CGA		0.343	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		11	20	0	0	0	1	0	11	20				
PLEKHG7	440107	broad.mit.edu	37	12	93150140	93150140	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93150140C>T	ENST00000344636.3	+	8	857	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	225	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CAGACACCTTCTCTATGAAGG	0.363																																						ENST00000344636.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						c.(673-675)Ctc>Ttc		pleckstrin homology domain containing, family G (with RhoGef domain) member 7							88.0	88.0	88.0					12																	93150140		2203	4300	6503	SO:0001583	missense	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93150140C>T	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.673C>T	12.37:g.93150140C>T	ENSP00000344961:p.Leu225Phe						p.L225F	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN			8	857	+			225			PH.		B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	c.673C>T	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414148	0.62511	.	.	ENSG00000187510	ENST00000344636	T	0.68181	-0.31	4.92	1.96	0.26148	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.135938	0.50627	N	0.000117	T	0.70762	0.3261	M	0.85373	2.75	0.46654	D	0.999148	D	0.53151	0.958	P	0.50490	0.642	T	0.66716	-0.5853	10	0.46703	T	0.11	-28.4677	4.8111	0.13344	0.2855:0.5163:0.1237:0.0745	.	225	Q6ZR37	PKHG7_HUMAN	F	225	ENSP00000344961:L225F	ENSP00000344961:L225F	L	+	1	0	PLEKHG7	91674271	0.857000	0.29778	0.985000	0.45067	0.979000	0.70002	0.962000	0.29280	0.091000	0.17302	0.555000	0.69702	CTC		0.363	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		19	34	0	0	0	1	0	19	34				
PPIG	9360	broad.mit.edu	37	2	170487452	170487452	+	Missense_Mutation	SNP	G	G	A	rs200547187		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170487452G>A	ENST00000260970.3	+	10	936	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	PPIG_ENST00000448752.2_Missense_Mutation_p.R239Q|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Missense_Mutation_p.R239Q|PPIG_ENST00000409714.3_Missense_Mutation_p.R224Q	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	239	Arg/Lys-rich (basic).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.R239Q(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAAATTCCCGAAAACACAAG	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		17434	0.001		0.0	False		,,,				2504	0.0					ENST00000260970.3																			1	Substitution - Missense(1)	p.R239Q(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(715-717)cGa>cAa		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						29.0	33.0	31.0					2																	170487452		2153	4174	6327	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170487452G>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.716G>A	2.37:g.170487452G>A	ENSP00000260970:p.Arg239Gln					PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Missense_Mutation_p.R239Q|PPIG_ENST00000448752.2_Missense_Mutation_p.R239Q|PPIG_ENST00000409714.3_Missense_Mutation_p.R224Q	p.R239Q	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			10	936	+			239			Arg/Lys-rich (basic).		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.716G>A	CCDS2235.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.99	3.739031	0.69304	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	T;T;T;T;T;T	0.28895	2.24;1.81;2.22;1.59;2.24;1.93	5.74	5.74	0.90152	.	0.746276	0.11691	N	0.538939	T	0.14700	0.0355	N	0.19112	0.55	0.35323	D	0.784961	P;P;P;P;P	0.48640	0.913;0.645;0.645;0.487;0.645	B;B;B;B;B	0.30855	0.121;0.062;0.062;0.063;0.062	T	0.07083	-1.0791	10	0.23891	T	0.37	0.117	7.8993	0.29725	0.1941:0.0:0.8059:0.0	.	235;224;224;239;239	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	Q	239;239;235;224;239;239;239	ENSP00000260970:R239Q;ENSP00000408683:R235Q;ENSP00000386245:R224Q;ENSP00000435987:R239Q;ENSP00000407083:R239Q;ENSP00000402222:R239Q	ENSP00000260970:R239Q	R	+	2	0	PPIG	170195698	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.228000	0.42981	2.683000	0.91414	0.655000	0.94253	CGA		0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			12	17	0	0	0	1	0	12	17				
PASK	23178	broad.mit.edu	37	2	242079418	242079418	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242079418T>C	ENST00000405260.1	-	4	1180	c.482A>G	c.(481-483)gAc>gGc	p.D161G	PASK_ENST00000358649.4_Missense_Mutation_p.D161G|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.D161G|PASK_ENST00000403638.3_Missense_Mutation_p.D161G	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	161	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCCAATCAGGTCCTGGCTGCT	0.587																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(481-483)gAc>gGc		PAS domain containing serine/threonine kinase							63.0	52.0	56.0					2																	242079418		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242079418T>C	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.482A>G	2.37:g.242079418T>C	ENSP00000384016:p.Asp161Gly					PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.D161G|PASK_ENST00000405260.1_Missense_Mutation_p.D161G|PASK_ENST00000358649.4_Missense_Mutation_p.D161G	p.D161G	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	4	573	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	161			PAS 1.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.482A>G	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737356	0.30774	.	.	ENSG00000115687	ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638	D;D;D;D	0.99688	-6.41;-6.41;-6.41;-6.41	4.61	2.17	0.27698	PAS (3);PAS fold (1);	0.599801	0.15442	N	0.262158	D	0.99045	0.9673	L	0.48362	1.52	0.29995	N	0.816575	P;B;B;P	0.37594	0.601;0.403;0.287;0.601	P;B;B;P	0.49922	0.626;0.341;0.342;0.626	D	0.99964	1.1791	10	0.72032	D	0.01	.	5.4519	0.16570	0.0:0.0932:0.1754:0.7314	.	161;161;161;161	B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	G	161	ENSP00000234040:D161G;ENSP00000384016:D161G;ENSP00000351475:D161G;ENSP00000384438:D161G	ENSP00000234040:D161G	D	-	2	0	PASK	241728091	0.499000	0.26083	0.627000	0.29227	0.156000	0.22039	1.786000	0.38694	0.166000	0.19597	-0.415000	0.06103	GAC		0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		14	20	0	0	0	1	0	14	20				
SI	6476	broad.mit.edu	37	3	164739053	164739053	+	Missense_Mutation	SNP	C	C	A	rs121912616	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164739053C>A	ENST00000264382.3	-	27	3280	c.3218G>T	c.(3217-3219)gGc>gTc	p.G1073V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1073	Sucrase.		G -> D (in CSID). {ECO:0000269|PubMed:16329100}.		carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATCTGGATGCCAAAAGGATT	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218	GRCh37	CM060472	SI	M	rs121912616	c.(3217-3219)gGc>gTc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						166.0	166.0	166.0					3																	164739053		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739053C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3218G>T	3.37:g.164739053C>A	ENSP00000264382:p.Gly1073Val	HNSCC(35;0.089)					p.G1073V	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			27	3280	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1073		G -> D (in CSID).	Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3218G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243186	0.79912	.	.	ENSG00000090402	ENST00000264382	T	0.47177	0.85	4.64	4.64	0.57946	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.78509	0.4294	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85949	0.1463	10	0.87932	D	0	.	17.7144	0.88332	0.0:1.0:0.0:0.0	.	1073	P14410	SUIS_HUMAN	V	1073	ENSP00000264382:G1073V	ENSP00000264382:G1073V	G	-	2	0	SI	166221747	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.058000	0.64300	2.414000	0.81942	0.585000	0.79938	GGC		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		34	63	1	0	8.88839e-20	1	1.21309e-19	34	63				
UBE2G1	7326	broad.mit.edu	37	17	4210374	4210374	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4210374C>T	ENST00000396981.2	-	2	256	c.91G>A	c.(91-93)Gat>Aat	p.D31N	UBE2G1_ENST00000572484.1_5'UTR	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	31					protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|ubiquitin-dependent protein catabolic process (GO:0006511)	extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(4)|skin(1)	7						TCATTGTCATCTATTAAACCT	0.353																																						ENST00000396981.2																			0				large_intestine(2)|lung(4)|skin(1)	7						c.(91-93)Gat>Aat		ubiquitin-conjugating enzyme E2G 1							104.0	103.0	103.0					17																	4210374		2203	4300	6503	SO:0001583	missense	7326				protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr17:4210374C>T	BC026288	CCDS32532.1	17p13.2	2014-05-30	2011-05-19		ENSG00000132388	ENSG00000132388		"""Ubiquitin-conjugating enzymes E2"""	12482	protein-coding gene	gene with protein product		601569	"""ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)"""	UBE2G		8893823	Standard	NM_003342		Approved	UBC7	uc002fxs.3	P62253	OTTHUMG00000177826	ENST00000396981.2:c.91G>A	17.37:g.4210374C>T	ENSP00000380178:p.Asp31Asn					UBE2G1_ENST00000572484.1_5'UTR	p.D31N	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN			2	256	-			31					B2R7P2|D3DTK0|Q99462	Missense_Mutation	SNP	ENST00000396981.2	37	c.91G>A	CCDS32532.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217185	0.58560	.	.	ENSG00000132388	ENST00000396981	T	0.38401	1.14	5.55	5.55	0.83447	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.149471	0.64402	D	0.000017	T	0.33585	0.0868	L	0.41236	1.265	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.04320	-1.0960	10	0.28530	T	0.3	-21.9893	18.8702	0.92309	0.0:1.0:0.0:0.0	.	31	P62253	UB2G1_HUMAN	N	31	ENSP00000380178:D31N	ENSP00000380178:D31N	D	-	1	0	UBE2G1	4157123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.611000	0.67674	2.785000	0.95823	0.591000	0.81541	GAT		0.353	UBE2G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439099.1	NM_003342		23	30	0	0	0	1	0	23	30				
MTUS1	57509	broad.mit.edu	37	8	17507410	17507410	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17507410A>C	ENST00000262102.6	-	13	3670	c.3446T>G	c.(3445-3447)aTc>aGc	p.I1149S	MTUS1_ENST00000297488.6_Missense_Mutation_p.I315S|MTUS1_ENST00000544260.1_Missense_Mutation_p.I294S|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000519263.1_Missense_Mutation_p.I1095S|MTUS1_ENST00000381869.3_Missense_Mutation_p.I1095S|MTUS1_ENST00000400046.1_Missense_Mutation_p.I221S|MTUS1_ENST00000381861.3_Missense_Mutation_p.I396S	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1149				I -> T (in Ref. 4; BAB14894). {ECO:0000305}.	cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTCATTCTTGATCTCTAACAC	0.378																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(3283-3285)aTc>aGc		microtubule associated tumor suppressor 1							212.0	190.0	197.0					8																	17507410		1861	4104	5965	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17507410A>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3446T>G	8.37:g.17507410A>C	ENSP00000262102:p.Ile1149Ser					MTUS1_ENST00000519263.1_Missense_Mutation_p.I1095S|MTUS1_ENST00000262102.6_Missense_Mutation_p.I1149S|MTUS1_ENST00000381861.3_Missense_Mutation_p.I396S|MTUS1_ENST00000400046.1_Missense_Mutation_p.I221S|MTUS1_ENST00000544260.1_Missense_Mutation_p.I294S|MTUS1_ENST00000297488.6_Missense_Mutation_p.I315S|MTUS1_ENST00000518713.1_5'UTR	p.I1095S	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	12	3757	-			1149					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.3284T>G	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799976	0.90538	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.41	5.41	0.78517	.	0.044722	0.85682	D	0.000000	D	0.89908	0.6851	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.998	D	0.91338	0.5095	10	0.87932	D	0	-18.8151	15.7563	0.78030	1.0:0.0:0.0:0.0	.	1095;1149;396;315	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	S	1095;294;221;315;396;1149;1095	ENSP00000371293:I1095S;ENSP00000445738:I294S;ENSP00000382921:I221S;ENSP00000297488:I315S;ENSP00000371285:I396S;ENSP00000262102:I1149S;ENSP00000430167:I1095S	ENSP00000262102:I1149S	I	-	2	0	MTUS1	17551690	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.281000	0.95811	2.190000	0.69967	0.455000	0.32223	ATC		0.378	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		29	56	0	0	0	1	0	29	56				
SERINC1	57515	broad.mit.edu	37	6	122774932	122774932	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:122774932G>A	ENST00000339697.4	-	5	656	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	191					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CCAACATCTCGAGTTCCCTTC	0.388																																						ENST00000368454.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(571-573)tCg>tTg		serine incorporator 1							153.0	133.0	140.0					6																	122774932		2203	4300	6503	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122774932G>A	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.572C>T	6.37:g.122774932G>A	ENSP00000342962:p.Ser191Leu					SERINC1_ENST00000339697.3_Missense_Mutation_p.S191L	p.S191L			Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	7	901	-			191					B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.572C>T	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083058	0.94050	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.21361	2.01;2.01	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.69358	2.11	0.80722	D	1	P	0.41420	0.749	B	0.34652	0.187	T	0.07102	-1.0790	10	0.72032	D	0.01	-13.2021	19.2537	0.93935	0.0:0.0:1.0:0.0	.	191	Q9NRX5	SERC1_HUMAN	L	191	ENSP00000342962:S191L;ENSP00000357439:S191L	ENSP00000342962:S191L	S	-	2	0	SERINC1	122816631	1.000000	0.71417	0.986000	0.45419	0.933000	0.57130	9.869000	0.99810	2.565000	0.86533	0.655000	0.94253	TCG		0.388	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		9	54	0	0	0	1	0	9	54				
TCHH	7062	broad.mit.edu	37	1	152086435	152086435	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152086435A>C	ENST00000368804.1	-	1	121	c.122T>G	c.(121-123)tTt>tGt	p.F41C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	41	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGCTCCAAATTCCCTTTC	0.403																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(121-123)tTt>tGt		trichohyalin							171.0	156.0	160.0					1																	152086435		1871	4108	5979	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152086435A>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.122T>G	1.37:g.152086435A>C	ENSP00000357794:p.Phe41Cys						p.F41C	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	121	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		41			EF-hand 1.|S-100-like.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.122T>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876640	0.33162	.	.	ENSG00000159450	ENST00000368804	T	0.11930	2.73	4.93	4.93	0.64822	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.27798	0.0684	M	0.84219	2.685	0.25929	N	0.983013	D	0.89917	1.0	D	0.91635	0.999	T	0.11891	-1.0569	9	0.87932	D	0	-1.1531	11.1563	0.48489	1.0:0.0:0.0:0.0	.	41	Q07283	TRHY_HUMAN	C	41	ENSP00000357794:F41C	ENSP00000357794:F41C	F	-	2	0	TCHH	150353059	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	4.842000	0.62831	2.199000	0.70637	0.455000	0.32223	TTT		0.403	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		9	54	0	0	0	1	0	9	54				
TNPO2	30000	broad.mit.edu	37	19	12825950	12825950	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12825950C>T	ENST00000592287.1	-	8	790	c.682G>A	c.(682-684)Gag>Aag	p.E228K	TNPO2_ENST00000450764.2_Missense_Mutation_p.E228K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E228K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E228K|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000441499.1_Missense_Mutation_p.E228K|TNPO2_ENST00000425528.1_Missense_Mutation_p.E228K	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	228					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCCGCACCTCGGGGTCATCA	0.617																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(682-684)Gag>Aag		transportin 2							60.0	64.0	63.0					19																	12825950		2143	4249	6392	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12825950C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.682G>A	19.37:g.12825950C>T	ENSP00000468434:p.Glu228Lys					TNPO2_ENST00000592287.1_Missense_Mutation_p.E228K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E228K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E228K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E228K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E228K|TNPO2_ENST00000589956.1_Intron	p.E228K			O14787	TNPO2_HUMAN			9	1039	-			228					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.682G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924029	0.73213	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	M	0.90542	3.125	0.80722	D	1	P;B	0.43287	0.802;0.433	B;B	0.28849	0.095;0.07	T	0.77172	-0.2685	10	0.66056	D	0.02	-22.2304	18.4471	0.90688	0.0:1.0:0.0:0.0	.	392;228	Q4LE60;O14787	.;TNPO2_HUMAN	K	392;228;228;228;228;228;228	ENSP00000407182:E228K;ENSP00000389648:E228K;ENSP00000397379:E228K;ENSP00000349321:E228K	ENSP00000349321:E228K	E	-	1	0	TNPO2	12686950	1.000000	0.71417	0.969000	0.41365	0.691000	0.40173	7.266000	0.78452	2.655000	0.90218	0.555000	0.69702	GAG		0.617	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		24	37	0	0	0	1	0	24	37				
LRP2	4036	broad.mit.edu	37	2	170002290	170002290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170002290G>A	ENST00000263816.3	-	70	13240	c.12955C>T	c.(12955-12957)Cga>Tga	p.R4319*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4319					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGAAAGATTCGAACTTGAGTG	0.363																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(12955-12957)Cga>Tga		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						112.0	101.0	104.0					2																	170002290		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170002290G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12955C>T	2.37:g.170002290G>A	ENSP00000263816:p.Arg4319*						p.R4319*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	70	13240	-			4319					O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.12955C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	55	24.359493	0.99960	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.38	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2705	0.66149	0.0:0.0:0.8515:0.1485	.	.	.	.	X	4319	.	ENSP00000263816:R4319X	R	-	1	2	LRP2	169710536	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.642000	0.61383	1.380000	0.46344	0.655000	0.94253	CGA		0.363	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	53	0	0	0	1	0	8	53				
PLP1	5354	broad.mit.edu	37	X	103040636	103040636	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040636G>A	ENST00000303958.2	+	2	276	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	PLP1_ENST00000361621.2_Missense_Mutation_p.E44K|PLP1_ENST00000418604.1_Missense_Mutation_p.E44K	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	44					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CACTGGCACAGAAAAGCTAAT	0.483																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(130-132)Gaa>Aaa		proteolipid protein 1							207.0	184.0	192.0					X																	103040636		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103040636G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.130G>A	X.37:g.103040636G>A	ENSP00000305152:p.Glu44Lys					PLP1_ENST00000303958.2_Missense_Mutation_p.E44K|PLP1_ENST00000361621.2_Missense_Mutation_p.E44K	p.E44K	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			3	410	+			44					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.130G>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130615	0.56828	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	5.58	5.58	0.84498	.	0.043340	0.85682	D	0.000000	D	0.98704	0.9565	M	0.65975	2.015	0.49389	D	0.999782	P;P;P	0.52842	0.895;0.956;0.883	B;P;B	0.49799	0.425;0.622;0.077	D	0.99063	1.0831	10	0.30854	T	0.27	23.0403	15.8322	0.78764	0.0:0.0:1.0:0.0	.	44;44;44	B1B1G6;P60201;P60201-2	.;MYPR_HUMAN;.	K	44	ENSP00000403335:E44K;ENSP00000399913:E44K;ENSP00000409802:E44K;ENSP00000413931:E44K;ENSP00000393391:E44K;ENSP00000405750:E44K;ENSP00000391853:E44K;ENSP00000305152:E44K;ENSP00000354860:E44K	ENSP00000305152:E44K	E	+	1	0	PLP1	102927292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.440000	0.52886	2.337000	0.79520	0.600000	0.82982	GAA		0.483	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			60	124	0	0	0	1	0	60	124				
ACSL1	2180	broad.mit.edu	37	4	185681620	185681620	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185681620T>C	ENST00000515030.1	-	18	1998	c.1673A>G	c.(1672-1674)cAc>cGc	p.H558R	ACSL1_ENST00000504342.1_Missense_Mutation_p.H558R|ACSL1_ENST00000454703.2_Missense_Mutation_p.H387R|ACSL1_ENST00000281455.2_Missense_Mutation_p.H558R|ACSL1_ENST00000507295.1_Missense_Mutation_p.H524R|ACSL1_ENST00000513317.1_Missense_Mutation_p.H558R|ACSL1_ENST00000437665.3_Missense_Mutation_p.H387R			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	558					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTAAATATGTGCTTTTTCCG	0.463																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1672-1674)cAc>cGc		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						329.0	351.0	344.0					4																	185681620		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185681620T>C	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1673A>G	4.37:g.185681620T>C	ENSP00000422607:p.His558Arg					ACSL1_ENST00000437665.3_Missense_Mutation_p.H387R|ACSL1_ENST00000454703.2_Missense_Mutation_p.H387R|ACSL1_ENST00000507295.1_Missense_Mutation_p.H524R|ACSL1_ENST00000513317.1_Missense_Mutation_p.H558R|ACSL1_ENST00000281455.2_Missense_Mutation_p.H558R|ACSL1_ENST00000504342.1_Missense_Mutation_p.H558R	p.H558R			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	18	1998	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	558					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1673A>G	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500206	0.64298	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89	5.67	5.67	0.87782	AMP-dependent synthetase/ligase (1);	0.088049	0.85682	N	0.000000	T	0.24392	0.0591	M	0.86268	2.805	0.80722	D	1	B;B;B;B	0.18166	0.015;0.026;0.026;0.021	B;B;B;B	0.32090	0.14;0.119;0.061;0.036	T	0.03545	-1.1026	10	0.72032	D	0.01	-18.1838	15.9204	0.79562	0.0:0.0:0.0:1.0	.	524;558;558;548	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	R	387;558;154;558;524;387;558;558	ENSP00000407165:H387R;ENSP00000422607:H558R;ENSP00000425098:H154R;ENSP00000281455:H558R;ENSP00000426244:H524R;ENSP00000405687:H387R;ENSP00000425006:H558R;ENSP00000426150:H558R	ENSP00000281455:H558R	H	-	2	0	ACSL1	185918614	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.908000	0.87438	2.164000	0.68074	0.533000	0.62120	CAC		0.463	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		123	255	0	0	0	1	0	123	255				
NVL	4931	broad.mit.edu	37	1	224482015	224482015	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:224482015C>T	ENST00000281701.6	-	12	1538	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	NVL_ENST00000391875.2_Missense_Mutation_p.D321N|NVL_ENST00000482491.1_Missense_Mutation_p.D151N|NVL_ENST00000340871.4_Missense_Mutation_p.D238N|NVL_ENST00000361463.3_Missense_Mutation_p.D321N|NVL_ENST00000469075.1_Missense_Mutation_p.D336N	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	427						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATTTCTCGGTCGAACCTTCCC	0.453																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.(1279-1281)Gac>Aac		nuclear VCP-like							100.0	96.0	97.0					1																	224482015		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224482015C>T	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1279G>A	1.37:g.224482015C>T	ENSP00000281701:p.Asp427Asn					NVL_ENST00000361463.3_Missense_Mutation_p.D321N|NVL_ENST00000469075.1_Missense_Mutation_p.D336N|NVL_ENST00000482491.1_Missense_Mutation_p.D151N|NVL_ENST00000391875.2_Missense_Mutation_p.D321N|NVL_ENST00000340871.4_Missense_Mutation_p.D238N	p.D427N	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	12	1538	-			427					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.1279G>A	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.856157|5.856157	0.97030|0.97030	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871;ENST00000361463|ENST00000469968	T;T;T;D;T;T|.	0.96011|.	-1.48;-1.48;-1.48;-3.88;-1.48;-1.48|.	5.65|5.65	5.65|5.65	0.86999|0.86999	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.046283|.	0.85682|.	D|.	0.000000|.	T|T	0.82226|0.82226	0.4991|0.4991	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.998;0.998|.	T|T	0.81745|0.81745	-0.0792|-0.0792	10|5	0.87932|.	D|.	0|.	-17.6266|-17.6266	20.0752|20.0752	0.97739|0.97739	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	238;336;427|.	B4DMC4;B4DP98;O15381|.	.;.;NVL_HUMAN|.	N|Q	427;321;336;151;238;321|309	ENSP00000281701:D427N;ENSP00000375747:D321N;ENSP00000417826:D336N;ENSP00000417213:D151N;ENSP00000341362:D238N;ENSP00000354779:D321N|.	ENSP00000281701:D427N|.	D|R	-|-	1|2	0|0	NVL|NVL	222548638|222548638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	7.600000|7.600000	0.82769|0.82769	2.826000|2.826000	0.97356|0.97356	0.491000|0.491000	0.48974|0.48974	GAC|CGA		0.453	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		20	47	0	0	0	1	0	20	47				
TMEM208	29100	broad.mit.edu	37	16	67262716	67262716	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67262716A>G	ENST00000304800.9	+	5	422	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000341546.3_5'Flank|TMEM208_ENST00000563953.1_Missense_Mutation_p.I36V|TMEM208_ENST00000563426.1_3'UTR|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000409509.1_5'Flank|TMEM208_ENST00000565201.1_Missense_Mutation_p.I106V|LRRC29_ENST00000393992.1_5'Flank	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	106					autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TAAGGATGTGATCCTACTGAC	0.527																																						ENST00000563953.1																			0				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(106-108)Atc>Gtc		transmembrane protein 208							100.0	103.0	102.0					16																	67262716		2002	4169	6171	SO:0001583	missense	29100					integral to membrane		g.chr16:67262716A>G		CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.316A>G	16.37:g.67262716A>G	ENSP00000305892:p.Ile106Val					TMEM208_ENST00000563426.1_3'UTR|TMEM208_ENST00000565201.1_Missense_Mutation_p.I106V|TMEM208_ENST00000304800.9_Missense_Mutation_p.I106V	p.I36V			Q9BTX3	TM208_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	5	532	+		Ovarian(137;0.0563)	106					Q05CT0|Q96D25|Q9NZZ7	Missense_Mutation	SNP	ENST00000304800.9	37	c.106A>G	CCDS45511.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208687	0.39003	.	.	ENSG00000168701	ENST00000304800	T	0.35048	1.33	5.38	5.38	0.77491	.	0.456357	0.23543	N	0.047058	T	0.24699	0.0599	L	0.37697	1.125	0.54753	D	0.999986	B	0.32409	0.37	B	0.26310	0.068	T	0.07271	-1.0781	10	0.25751	T	0.34	.	8.8508	0.35199	0.9156:0.0:0.0844:0.0	.	106	Q9BTX3	TM208_HUMAN	V	106	ENSP00000305892:I106V	ENSP00000305892:I106V	I	+	1	0	TMEM208	65820217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.427000	0.66483	2.040000	0.60383	0.459000	0.35465	ATC		0.527	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2	NM_014187		35	68	0	0	0	1	0	35	68				
GALNT12	79695	broad.mit.edu	37	9	101589141	101589141	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101589141T>C	ENST00000375011.3	+	3	649	c.649T>C	c.(649-651)Tct>Cct	p.S217P		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	217	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCTGGGGGCGTCTGCGGCGAG	0.667																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(649-651)Tct>Cct		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							32.0	30.0	31.0					9																	101589141		2202	4299	6501	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101589141T>C	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.649T>C	9.37:g.101589141T>C	ENSP00000364150:p.Ser217Pro						p.S217P	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			3	649	+		Acute lymphoblastic leukemia(62;0.0559)	217			Catalytic subdomain A.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.649T>C	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783313	0.49891	.	.	ENSG00000119514	ENST00000375011	T	0.62498	0.02	5.96	5.96	0.96718	Glycosyl transferase, family 2 (1);	0.046895	0.85682	D	0.000000	T	0.75064	0.3799	M	0.69358	2.11	0.48395	D	0.999647	D	0.62365	0.991	P	0.61658	0.892	T	0.77728	-0.2479	10	0.72032	D	0.01	.	14.3859	0.66945	0.0:0.0:0.0:1.0	.	217	Q8IXK2	GLT12_HUMAN	P	217	ENSP00000364150:S217P	ENSP00000364150:S217P	S	+	1	0	GALNT12	100628962	1.000000	0.71417	0.094000	0.20943	0.201000	0.24016	4.010000	0.57117	2.270000	0.75569	0.533000	0.62120	TCT		0.667	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		7	10	0	0	0	1	0	7	10				
YY1AP1	55249	broad.mit.edu	37	1	155631027	155631027	+	Intron	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155631027A>C	ENST00000295566.4	-	10	1158				YY1AP1_ENST00000368330.2_Intron|YY1AP1_ENST00000347088.5_Intron|YY1AP1_ENST00000535662.1_Intron|YY1AP1_ENST00000368339.5_Intron|YY1AP1_ENST00000361831.5_Intron|YY1AP1_ENST00000311573.5_Intron|YY1AP1_ENST00000405763.3_Missense_Mutation_p.L494R|YY1AP1_ENST00000359205.5_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Intron|YY1AP1_ENST00000355499.4_Intron|YY1AP1_ENST00000368340.5_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1						regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CGATTAAGGAAGTCCTTGATA	0.453																																						ENST00000405763.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(1480-1482)cTt>cGt		YY1 associated protein 1																																				SO:0001627	intron_variant	55249							g.chr1:155631027A>C	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1134+70T>G	1.37:g.155631027A>C						YY1AP1_ENST00000347088.5_Intron|YY1AP1_ENST00000355499.4_Intron|YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000404643.1_Intron|YY1AP1_ENST00000359205.5_Intron|YY1AP1_ENST00000368340.5_Intron|YY1AP1_ENST00000311573.5_Intron|YY1AP1_ENST00000368330.2_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_Intron|YY1AP1_ENST00000368339.5_Intron|YY1AP1_ENST00000361831.5_Intron|YY1AP1_ENST00000295566.4_Intron|MSTO1_ENST00000538143.1_Intron	p.L494R							9	1491	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.1481T>G	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	a	2.607	-0.291556	0.05568	.	.	ENSG00000163374	ENST00000405763	.	.	.	2.65	1.12	0.20585	.	.	.	.	.	T	0.08313	0.0207	.	.	.	0.09310	N	1	B	0.34264	0.446	B	0.24394	0.053	T	0.19679	-1.0298	7	0.87932	D	0	.	3.7647	0.08617	0.6739:0.0:0.3261:0.0	.	494	B0QZ55	.	R	494	.	ENSP00000384583:L494R	L	-	2	0	YY1AP1	153897651	0.000000	0.05858	0.001000	0.08648	0.183000	0.23260	-0.310000	0.08135	0.128000	0.18479	0.163000	0.16589	CTT		0.453	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		15	30	0	0	0	1	0	15	30				
OVCH1	341350	broad.mit.edu	37	12	29642678	29642678	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:29642678C>T	ENST00000318184.5	-	6	576	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	193	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGTTCCATTTCTTGTAGGACA	0.448																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(577-579)Gaa>Aaa		ovochymase 1							109.0	106.0	107.0					12																	29642678		1944	4144	6088	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29642678C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.577G>A	12.37:g.29642678C>T	ENSP00000326708:p.Glu193Lys						p.E193K	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			6	576	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		193			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.577G>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.102094	0.76983	.	.	ENSG00000187950	ENST00000318184	D	0.89552	-2.53	2.22	2.22	0.28083	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84897	0.5574	N	0.25426	0.745	0.09310	N	1	D	0.62365	0.991	P	0.54401	0.751	T	0.73742	-0.3887	9	0.17369	T	0.5	.	8.0252	0.30434	0.0:1.0:0.0:0.0	.	193	Q7RTY7	OVCH1_HUMAN	K	193	ENSP00000326708:E193K	ENSP00000326708:E193K	E	-	1	0	OVCH1	29533945	0.386000	0.25180	0.137000	0.22149	0.904000	0.53231	2.947000	0.49058	1.553000	0.49476	0.563000	0.77884	GAA		0.448	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		6	10	0	0	0	1	0	6	10				
ABCA12	26154	broad.mit.edu	37	2	215868969	215868969	+	Missense_Mutation	SNP	C	C	T	rs200973428		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215868969C>T	ENST00000272895.7	-	20	2866	c.2647G>A	c.(2647-2649)Gat>Aat	p.D883N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D565N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	883					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAACAGCATCGAGTCCCACG	0.333																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2647-2649)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 12							67.0	70.0	69.0					2																	215868969		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215868969C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2647G>A	2.37:g.215868969C>T	ENSP00000272895:p.Asp883Asn					ABCA12_ENST00000389661.4_Missense_Mutation_p.D565N	p.D883N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	20	2866	-		Renal(323;0.127)	883					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2647G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525296	0.85600	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.84944	-1.92;-1.92	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000005	D	0.85944	0.5815	L	0.49350	1.555	0.80722	D	1	D;P	0.53745	0.962;0.93	B;P	0.48089	0.301;0.566	D	0.86486	0.1794	10	0.52906	T	0.07	.	18.0122	0.89227	0.0:1.0:0.0:0.0	.	883;565	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	N	883;565	ENSP00000272895:D883N;ENSP00000374312:D565N	ENSP00000272895:D883N	D	-	1	0	ABCA12	215577214	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.899000	0.56288	2.687000	0.91594	0.563000	0.77884	GAT		0.333	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		9	18	0	0	0	1	0	9	18				
LRP4	4038	broad.mit.edu	37	11	46921846	46921846	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:46921846C>T	ENST00000378623.1	-	3	525	c.283G>A	c.(283-285)Gac>Aac	p.D95N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	95	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCTCACAGTCGTTGTCCCCG	0.527																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(283-285)Gac>Aac		low density lipoprotein receptor-related protein 4							130.0	113.0	119.0					11																	46921846		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46921846C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.283G>A	11.37:g.46921846C>T	ENSP00000367888:p.Asp95Asn						p.D95N	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	3	525	-			95			LDL-receptor class A 2.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.283G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793868	0.96952	.	.	ENSG00000134569	ENST00000378623;ENST00000534404	D;D	0.99005	-5.32;-5.32	5.63	5.63	0.86233	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.118369	0.56097	D	0.000040	D	0.99363	0.9776	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.99278	1.0895	10	0.59425	D	0.04	.	19.6834	0.95972	0.0:1.0:0.0:0.0	.	140;95	C9JRN7;O75096	.;LRP4_HUMAN	N	95;46	ENSP00000367888:D95N;ENSP00000434763:D46N	ENSP00000367888:D95N	D	-	1	0	LRP4	46878422	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.657000	0.90304	0.561000	0.74099	GAC		0.527	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		45	70	0	0	0	1	0	45	70				
ATP2B1	490	broad.mit.edu	37	12	89992944	89992944	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:89992944G>A	ENST00000428670.3	-	20	3757	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	ATP2B1_ENST00000261173.2_Missense_Mutation_p.R1101W|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R1065W|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R844W|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R1101W			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1101	Calmodulin-binding subdomain A.				blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGGCCACGCCGCAACTCCCTT	0.473																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(3301-3303)Cgg>Tgg		ATPase, Ca++ transporting, plasma membrane 1							142.0	124.0	130.0					12																	89992944		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89992944G>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3301C>T	12.37:g.89992944G>A	ENSP00000392043:p.Arg1101Trp					ATP2B1_ENST00000359142.3_Missense_Mutation_p.R1101W|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R1065W|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R844W|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R1101W	p.R1101W			P20020	AT2B1_HUMAN			20	3757	-			1101			Calmodulin-binding subdomain A.		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.3301C>T	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696196	0.88830	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.96073	-3.51;-3.9;-3.47;-3.51;-3.66	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.97701	0.9246	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.987;0.999;0.999	P;D;D	0.78314	0.711;0.982;0.991	D	0.97796	1.0241	10	0.87932	D	0	-22.2493	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1101;1101;1065	P20020-3;P20020-2;P20020-6	.;.;.	W	1101;1065;1101;1101;844	ENSP00000261173:R1101W;ENSP00000343599:R1065W;ENSP00000352054:R1101W;ENSP00000392043:R1101W;ENSP00000376869:R844W	ENSP00000261173:R1101W	R	-	1	2	ATP2B1	88517075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.503000	0.73699	2.840000	0.97914	0.655000	0.94253	CGG		0.473	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		16	93	0	0	0	1	0	16	93				
OR2D3	120775	broad.mit.edu	37	11	6943085	6943085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6943085G>T	ENST00000317834.3	+	1	881	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACTACAAAAGAACTGGATAA	0.423																																						ENST00000317834.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(853-855)Gaa>Taa		olfactory receptor, family 2, subfamily D, member 3							103.0	101.0	102.0					11																	6943085		2201	4296	6497	SO:0001587	stop_gained	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6943085G>T	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.853G>T	11.37:g.6943085G>T	ENSP00000320560:p.Glu285*						p.E285*	NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	881	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	285					B2RP06|Q6IFG8|Q96R51	Nonsense_Mutation	SNP	ENST00000317834.3	37	c.853G>T	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562193	0.27915	.	.	ENSG00000178358	ENST00000317834	.	.	.	4.95	4.02	0.46733	.	0.734664	0.11688	N	0.539184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.8899	10.5715	0.45202	0.096:0.0:0.904:0.0	.	.	.	.	X	285	.	ENSP00000320560:E285X	E	+	1	0	OR2D3	6899661	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	0.239000	0.18023	1.433000	0.47394	0.655000	0.94253	GAA		0.423	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		30	42	1	0	2.47511e-08	1	2.91589e-08	30	42				
KMT2A	4297	broad.mit.edu	37	11	118343387	118343387	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118343387G>A	ENST00000389506.5	+	3	1513	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	KMT2A_ENST00000354520.4_Missense_Mutation_p.D505N|KMT2A_ENST00000534358.1_Missense_Mutation_p.D505N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	505					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GGAGCGGAGCGATACCCCTGA	0.493																																						ENST00000534358.1																			0											c.(1513-1515)Gat>Aat		lysine (K)-specific methyltransferase 2A							109.0	115.0	113.0					11																	118343387		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118343387G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1513G>A	11.37:g.118343387G>A	ENSP00000374157:p.Asp505Asn					KMT2A_ENST00000354520.4_Missense_Mutation_p.D505N|KMT2A_ENST00000389506.5_Missense_Mutation_p.D505N	p.D505N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1536	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.1513G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443833	0.12164	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	T;T;T;T	0.80653	-1.4;2.36;-1.4;-1.37	5.32	2.34	0.29019	.	0.639989	0.16560	N	0.209091	T	0.48447	0.1500	N	0.02539	-0.55	0.09310	N	0.999995	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.44667	-0.9313	10	0.02654	T	1	.	5.0886	0.14696	0.3108:0.2661:0.4231:0.0	.	505;505;538	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	N	505;538;505;505	ENSP00000436786:D505N;ENSP00000432391:D538N;ENSP00000374157:D505N;ENSP00000346516:D505N	ENSP00000346516:D505N	D	+	1	0	MLL	117848597	0.906000	0.30813	0.743000	0.31040	0.990000	0.78478	1.976000	0.40579	0.716000	0.32124	0.491000	0.48974	GAT		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		8	154	0	0	0	1	0	8	154				
AKNAD1	254268	broad.mit.edu	37	1	109394800	109394800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109394800C>A	ENST00000370001.3	-	2	755	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.E163*|AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.E163*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	163						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGGGTTTGTTCTTTTGGCCAA	0.408																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(487-489)Gaa>Taa		AKNA domain containing 1							56.0	59.0	58.0					1																	109394800		2203	4299	6502	SO:0001587	stop_gained	254268							g.chr1:109394800C>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.487G>T	1.37:g.109394800C>A	ENSP00000359018:p.Glu163*					AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.E163*|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.E163*	p.E163*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			2	755	-			163					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	ENST00000370001.3	37	c.487G>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701884	0.88924	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	.	.	.	5.92	1.71	0.24356	.	0.231073	0.36628	N	0.002498	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.2337	6.5198	0.22269	0.0:0.5646:0.2282:0.2072	.	.	.	.	X	163	.	ENSP00000359011:E163X	E	-	1	0	AKNAD1	109196323	0.331000	0.24713	0.421000	0.26609	0.099000	0.18886	0.643000	0.24750	0.845000	0.35118	0.655000	0.94253	GAA		0.408	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		23	43	1	0	1.55469e-16	1	2.07108e-16	23	43				
SPEF2	79925	broad.mit.edu	37	5	35763639	35763639	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35763639T>C	ENST00000356031.3	+	26	3790	c.3636T>C	c.(3634-3636)ccT>ccC	p.P1212P	SPEF2_ENST00000440995.2_Silent_p.P1207P|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1212					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCTAGTTCCTCGAATATCCA	0.333																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3619-3621)ccT>ccC		sperm flagellar 2							82.0	72.0	75.0					5																	35763639		1810	4081	5891	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35763639T>C	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3636T>C	5.37:g.35763639T>C						SPEF2_ENST00000356031.3_Silent_p.P1212P|CTD-2113L7.1_ENST00000510433.1_RNA	p.P1207P			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		26	3621	+	all_lung(31;7.56e-05)		1212					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.3621T>C	CCDS43309.1																																																																																				0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		13	29	0	0	0	1	0	13	29				
PLCB2	5330	broad.mit.edu	37	15	40599857	40599857	+	Missense_Mutation	SNP	G	G	T	rs377018757	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:40599857G>T	ENST00000260402.3	-	1	266	c.17C>A	c.(16-18)cCt>cAt	p.P6H	PLCB2_ENST00000456256.2_Missense_Mutation_p.P6H|PLCB2_ENST00000557821.1_Missense_Mutation_p.P6H|PLCB2_ENST00000543785.2_Missense_Mutation_p.P6H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	6					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCAGGACAGGGTTGAGCAG	0.607																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(16-18)cCt>cAt		phospholipase C, beta 2							54.0	59.0	57.0					15																	40599857		2080	4218	6298	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40599857G>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.17C>A	15.37:g.40599857G>T	ENSP00000260402:p.Pro6His					PLCB2_ENST00000543785.2_Missense_Mutation_p.P6H|PLCB2_ENST00000456256.2_Missense_Mutation_p.P6H|PLCB2_ENST00000557821.1_Missense_Mutation_p.P6H	p.P6H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	1	266	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	6					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.17C>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062372	0.55432	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.52057	1.78;1.65;0.68	5.53	5.53	0.82687	.	0.690018	0.14896	N	0.292100	T	0.57533	0.2060	L	0.38531	1.155	0.39824	D	0.972875	D;D;P;D	0.56746	0.961;0.977;0.807;0.961	P;P;P;P	0.57548	0.67;0.823;0.632;0.67	T	0.60581	-0.7235	10	0.87932	D	0	.	18.03	0.89281	0.0:0.0:1.0:0.0	.	6;6;6;6	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	H	6	ENSP00000260402:P6H;ENSP00000411991:P6H;ENSP00000444652:P6H	ENSP00000260402:P6H	P	-	2	0	PLCB2	38387149	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.530000	0.60595	2.602000	0.87976	0.455000	0.32223	CCT		0.607	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			4	36	1	0	0.000602214	1	0.000636035	4	36				
MPHOSPH10	10199	broad.mit.edu	37	2	71360500	71360500	+	Missense_Mutation	SNP	A	A	C	rs374115761		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360500A>C	ENST00000244230.2	+	2	914	c.562A>C	c.(562-564)Aac>Cac	p.N188H	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.N188H	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	188					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CAAGGTGCAAAACAAAGGACA	0.388																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(562-564)Aac>Cac		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							83.0	89.0	87.0					2																	71360500		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360500A>C	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.562A>C	2.37:g.71360500A>C	ENSP00000244230:p.Asn188His					MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.N188H	p.N188H	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			2	914	+			188					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.562A>C	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	A	4.008	-0.001091	0.07819	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10382	2.88;2.88	4.64	-2.74	0.05932	.	1.541490	0.03235	N	0.179501	T	0.08492	0.0211	L	0.38175	1.15	0.09310	N	1	P;P	0.39022	0.655;0.655	B;B	0.37601	0.254;0.174	T	0.14783	-1.0460	10	0.44086	T	0.13	.	2.4527	0.04522	0.5169:0.2281:0.1454:0.1096	.	188;188	B3KPV5;O00566	.;MPP10_HUMAN	H	188;48	ENSP00000244230:N188H;ENSP00000393034:N48H	ENSP00000244230:N188H	N	+	1	0	MPHOSPH10	71214008	0.079000	0.21365	0.000000	0.03702	0.218000	0.24690	1.346000	0.33964	-0.971000	0.03564	-2.394000	0.00226	AAC		0.388	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		23	58	0	0	0	1	0	23	58				
FABP9	646480	broad.mit.edu	37	8	82373692	82373692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:82373692C>A	ENST00000379071.2	-	1	122	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	23					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCACCCAGTTCTTTCATGTAA	0.398																																						ENST00000379071.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(67-69)Gaa>Taa		fatty acid binding protein 9, testis							155.0	161.0	159.0					8																	82373692		2203	4300	6503	SO:0001587	stop_gained	646480						lipid binding|transporter activity	g.chr8:82373692C>A			8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.67G>T	8.37:g.82373692C>A	ENSP00000368362:p.Glu23*					RP11-157I4.4_ENST00000524085.2_RNA	p.E23*	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)		1	122	-			23						Nonsense_Mutation	SNP	ENST00000379071.2	37	c.67G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.690127	0.96793	.	.	ENSG00000205186	ENST00000379071	.	.	.	5.21	3.41	0.39046	.	0.403315	0.28151	N	0.016415	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	15.2182	0.73288	0.0:0.8392:0.1608:0.0	.	.	.	.	X	23	.	ENSP00000368362:E23X	E	-	1	0	FABP9	82536247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.324000	0.52022	0.759000	0.33084	0.563000	0.77884	GAA		0.398	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	NM_001080526		9	121	1	0	0.000274275	1	0.000292037	9	121				
OR4M2	390538	broad.mit.edu	37	15	22368874	22368874	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22368874A>G	ENST00000332663.2	+	1	397	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGCATTGCACAGCTCTTCTTC	0.463																																						ENST00000332663.2																			1	Substitution - Missense(1)	p.Q100L(1)	lung(1)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(298-300)cAg>cGg		olfactory receptor, family 4, subfamily M, member 2							313.0	262.0	279.0					15																	22368874		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368874A>G	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.299A>G	15.37:g.22368874A>G	ENSP00000329467:p.Gln100Arg					RP11-69H14.6_ENST00000558896.1_RNA	p.Q100R	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	397	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	100					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.299A>G	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449975	0.43531	.	.	ENSG00000182974	ENST00000332663	T	0.00469	7.21	2.5	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000443	T	0.02767	0.0083	H	0.99689	4.705	0.22701	N	0.998834	D	0.89917	1.0	D	0.87578	0.998	T	0.33701	-0.9858	10	0.87932	D	0	-6.6643	6.688	0.23156	0.7573:0.2427:0.0:0.0	.	100	Q8NGB6	OR4M2_HUMAN	R	100	ENSP00000329467:Q100R	ENSP00000329467:Q100R	Q	+	2	0	OR4M2	19870238	1.000000	0.71417	0.994000	0.49952	0.814000	0.46013	5.841000	0.69409	0.183000	0.20059	0.368000	0.22195	CAG		0.463	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			7	368	0	0	0	1	0	7	368				
DYTN	391475	broad.mit.edu	37	2	207575305	207575305	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207575305C>T	ENST00000452335.2	-	2	153	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	13						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ATGGAATTCTCAATACTATTA	0.323																																						ENST00000452335.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(37-39)Gag>Aag		dystrotelin							63.0	59.0	61.0					2																	207575305		1811	4081	5892	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207575305C>T	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.37G>A	2.37:g.207575305C>T	ENSP00000396593:p.Glu13Lys						p.E13K	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	2	153	-			13						Missense_Mutation	SNP	ENST00000452335.2	37	c.37G>A	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252123	0.59212	.	.	ENSG00000232125	ENST00000452335	T	0.59224	0.28	4.49	4.49	0.54785	EF-hand domain, type 1 (1);	.	.	.	.	T	0.60366	0.2263	L	0.27053	0.805	0.30488	N	0.771649	D	0.67145	0.996	D	0.67725	0.953	T	0.54248	-0.8322	9	0.30854	T	0.27	-8.227	11.3556	0.49613	0.0:0.7677:0.2323:0.0	.	13	A2CJ06	DYTN_HUMAN	K	13	ENSP00000396593:E13K	ENSP00000396593:E13K	E	-	1	0	DYTN	207283550	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.143000	0.42187	2.778000	0.95560	0.655000	0.94253	GAG		0.323	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			9	6	0	0	0	1	0	9	6				
AHSA1	10598	broad.mit.edu	37	14	77935522	77935522	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77935522G>A	ENST00000216479.3	+	9	1107	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	SNORA46_ENST00000391069.1_RNA|AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	316					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGCGGACGCGACAGGGCTGG	0.577																																						ENST00000216479.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8						c.(946-948)cGa>cAa		AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)							169.0	158.0	162.0					14																	77935522		2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77935522G>A	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.947G>A	14.37:g.77935522G>A	ENSP00000216479:p.Arg316Gln					AHSA1_ENST00000555457.1_3'UTR	p.R316Q	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	9	1107	+			316					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.947G>A	CCDS9863.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740432	0.49045	.	.	ENSG00000100591	ENST00000555133;ENST00000216479;ENST00000557476	T	0.46063	0.88	5.46	4.56	0.56223	START-like domain (1);	0.174786	0.52532	D	0.000075	T	0.23289	0.0563	L	0.34521	1.04	0.21256	N	0.999749	P	0.45594	0.862	B	0.34180	0.177	T	0.12066	-1.0562	10	0.22109	T	0.4	-4.2088	6.1824	0.20478	0.1473:0.0:0.6888:0.1638	.	316	O95433	AHSA1_HUMAN	Q	181;316;98	ENSP00000451474:R98Q	ENSP00000216479:R316Q	R	+	2	0	AHSA1	77005275	0.992000	0.36948	0.995000	0.50966	0.775000	0.43874	1.867000	0.39499	1.517000	0.48917	0.591000	0.81541	CGA		0.577	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		10	191	0	0	0	1	0	10	191				
SLC16A10	117247	broad.mit.edu	37	6	111540115	111540115	+	Silent	SNP	C	C	T	rs536369026		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111540115C>T	ENST00000368851.5	+	5	1360	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SLC16A10_ENST00000368850.3_Silent_p.F81F	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	395					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGGGTCTCTTCGATGGATGCT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18671	0.0		0.0	False		,,,				2504	0.001					ENST00000368850.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(241-243)ttC>ttT		solute carrier family 16 (aromatic amino acid transporter), member 10							305.0	257.0	273.0					6																	111540115		2203	4300	6503	SO:0001819	synonymous_variant	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111540115C>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.1185C>T	6.37:g.111540115C>T						SLC16A10_ENST00000368851.5_Silent_p.F395F	p.F81F			Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	4	729	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	395					B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.243C>T	CCDS5089.1																																																																																				0.468	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			39	77	0	0	0	1	0	39	77				
LATS1	9113	broad.mit.edu	37	6	149982885	149982885	+	Missense_Mutation	SNP	G	G	A	rs139248642		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:149982885G>A	ENST00000543571.1	-	8	3920	c.3373C>T	c.(3373-3375)Cgc>Tgc	p.R1125C	LATS1_ENST00000253339.5_Missense_Mutation_p.R1125C	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACTAGATCGCGATTTTTAATC	0.353																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(3373-3375)Cgc>Tgc		large tumor suppressor kinase 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	99.0	98.0		3373	4.7	1.0	6	dbSNP_134	98	0,8598		0,0,4299	no	missense	LATS1	NM_004690.2	180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1125/1131	149982885	1,13003	2203	4299	6502	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:149982885G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3373C>T	6.37:g.149982885G>A	ENSP00000437550:p.Arg1125Cys					LATS1_ENST00000253339.5_Missense_Mutation_p.R1125C	p.R1125C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	8	3920	-		Ovarian(120;0.0164)	1125						Missense_Mutation	SNP	ENST00000543571.1	37	c.3373C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177279	0.38413	2.27E-4	0.0	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.54675	0.56;0.56	5.65	4.74	0.60224	.	0.131649	0.34700	N	0.003744	T	0.15305	0.0369	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08868	-1.0701	9	.	.	.	.	11.6629	0.51358	0.0727:0.1366:0.7906:0.0	.	1125	O95835	LATS1_HUMAN	C	1125	ENSP00000437550:R1125C;ENSP00000253339:R1125C	.	R	-	1	0	LATS1	150024578	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	3.907000	0.56348	2.659000	0.90383	0.591000	0.81541	CGC		0.353	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		30	50	0	0	0	1	0	30	50				
BCL11A	53335	broad.mit.edu	37	2	60689471	60689471	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:60689471A>G	ENST00000335712.6	-	4	803	c.576T>C	c.(574-576)acT>acC	p.T192T	BCL11A_ENST00000356842.4_Silent_p.T192T|BCL11A_ENST00000537768.1_Silent_p.T40T|BCL11A_ENST00000359629.5_Silent_p.T192T|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.T158T|BCL11A_ENST00000538214.1_Silent_p.T158T	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	192	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTAATCCATGAGTGTTCTGTG	0.488			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(574-576)acT>acC		B-cell CLL/lymphoma 11A (zinc finger protein)							98.0	97.0	97.0					2																	60689471		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689471A>G	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.576T>C	2.37:g.60689471A>G						BCL11A_ENST00000358510.4_Silent_p.T158T|BCL11A_ENST00000537768.1_Silent_p.T40T|BCL11A_ENST00000359629.5_Silent_p.T192T|BCL11A_ENST00000538214.1_Silent_p.T158T|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.T192T	p.T192T	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	803	-			192			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.576T>C	CCDS1862.1																																																																																				0.488	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		15	50	0	0	0	1	0	15	50				
R3HCC1L	27291	broad.mit.edu	37	10	99968024	99968024	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:99968024A>G	ENST00000298999.3	+	5	456	c.153A>G	c.(151-153)caA>caG	p.Q51Q	R3HCC1L_ENST00000370584.3_Silent_p.Q51Q|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	51							nucleotide binding (GO:0000166)										AAGAAAAGCAAAAAGAAAGTT	0.403																																						ENST00000298999.3																			0											c.(151-153)caA>caG		R3H domain and coiled-coil containing 1-like							66.0	74.0	71.0					10																	99968024		2203	4300	6503	SO:0001819	synonymous_variant	27291							g.chr10:99968024A>G	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.153A>G	10.37:g.99968024A>G						R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.Q51Q|R3HCC1L_ENST00000370586.2_Intron	p.Q51Q	NM_014472.4	NP_055287.4					5	456	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	c.153A>G	CCDS31267.1																																																																																				0.403	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		8	59	0	0	0	1	0	8	59				
ASB16	92591	broad.mit.edu	37	17	42255579	42255579	+	Missense_Mutation	SNP	G	G	A	rs573677324		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42255579G>A	ENST00000293414.1	+	5	1267	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	395					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTAGGAGCACGAAGCCTTCTA	0.637																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(1183-1185)Gaa>Aaa		ankyrin repeat and SOCS box containing 16							50.0	40.0	43.0					17																	42255579		2203	4300	6503	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42255579G>A	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1183G>A	17.37:g.42255579G>A	ENSP00000293414:p.Glu395Lys					ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	p.E395K	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	1267	+		Breast(137;0.00765)|Prostate(33;0.0313)	395					B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.1183G>A	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	G	2.866	-0.235070	0.05983	.	.	ENSG00000161664	ENST00000293414	T	0.61627	0.09	5.27	1.6	0.23607	.	0.545709	0.20168	N	0.097797	T	0.26085	0.0636	N	0.08118	0	0.25472	N	0.987815	B	0.18863	0.031	B	0.08055	0.003	T	0.26677	-1.0096	10	0.02654	T	1	-0.7581	5.4334	0.16466	0.2181:0.2891:0.4928:0.0	.	395	Q96NS5	ASB16_HUMAN	K	395	ENSP00000293414:E395K	ENSP00000293414:E395K	E	+	1	0	ASB16	39611105	0.000000	0.05858	0.484000	0.27391	0.285000	0.27093	0.285000	0.18883	0.161000	0.19458	-0.367000	0.07326	GAA		0.637	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			7	26	0	0	0	1	0	7	26				
NAA35	60560	broad.mit.edu	37	9	88622302	88622302	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88622302C>A	ENST00000361671.5	+	14	1279	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	382					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ACAAAAAGGTCTTTGGAACTC	0.383																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(1144-1146)gtC>gtA		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							179.0	175.0	177.0					9																	88622302		2203	4300	6503	SO:0001819	synonymous_variant	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88622302C>A	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1146C>A	9.37:g.88622302C>A							p.V382V	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN			14	1279	+			382					Q5VZE6|Q9H631|Q9H703	Silent	SNP	ENST00000361671.5	37	c.1146C>A	CCDS6673.1																																																																																				0.383	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		7	100	1	0	0.00307968	1	0.00320271	7	100				
PAMR1	25891	broad.mit.edu	37	11	35461197	35461197	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:35461197G>A	ENST00000378880.2	-	8	1523	c.1078C>T	c.(1078-1080)Ctt>Ttt	p.L360F	PAMR1_ENST00000378878.3_Missense_Mutation_p.L249F|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377F|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320F	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	360						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1078-1080)Ctt>Ttt		peptidase domain containing associated with muscle regeneration 1							165.0	158.0	160.0					11																	35461197		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35461197G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1078C>T	11.37:g.35461197G>A	ENSP00000368158:p.Leu360Phe					PAMR1_ENST00000378878.3_Missense_Mutation_p.L249F|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377F|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320F	p.L360F	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			8	1523	-			360					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1078C>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398399	0.83120	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.89485	-2.36;-2.37;-2.52;-2.35;-2.33	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.92559	0.6056	10	0.87932	D	0	.	19.1303	0.93402	0.0:0.0:1.0:0.0	.	249;360;377	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	F	377;360;249;320;337	ENSP00000278360:L377F;ENSP00000368158:L360F;ENSP00000368156:L249F;ENSP00000433868:L320F;ENSP00000432591:L337F	ENSP00000278360:L377F	L	-	1	0	PAMR1	35417773	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.696000	0.68287	2.515000	0.84797	0.643000	0.83706	CTT		0.453	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		28	60	0	0	0	1	0	28	60				
CTAGE5	4253	broad.mit.edu	37	14	39784901	39784901	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:39784901G>T	ENST00000280083.3	+	16	1685	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	CTAGE5_ENST00000556148.1_Missense_Mutation_p.E382D|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E445D|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E428D|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E457D|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E457D|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E992D|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E428D|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E428D|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E462D|CTAGE5_ENST00000557038.1_Missense_Mutation_p.E377D			O15320	CTGE5_HUMAN	CTAGE family, member 5	457					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTTCCCATGAGAAAAAAGCAC	0.269																																						ENST00000553728.1																			0											c.(2974-2976)gaG>gaT									80.0	94.0	89.0					14																	39784901		2201	4297	6498	SO:0001583	missense	0							g.chr14:39784901G>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1371G>T	14.37:g.39784901G>T	ENSP00000280083:p.Glu457Asp					CTAGE5_ENST00000557038.1_Missense_Mutation_p.E377D|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E462D|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E428D|CTAGE5_ENST00000280083.3_Missense_Mutation_p.E457D|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E382D|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E457D|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E445D|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E428D|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E457D|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E428D	p.E992D							20	3189	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.2976G>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102036	0.76983	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.68	2.79	0.32731	.	0.000000	0.33610	N	0.004726	T	0.68577	0.3016	M	0.87547	2.89	0.42767	D	0.993822	P;P;B;P;P;P	0.48640	0.779;0.461;0.314;0.461;0.913;0.461	P;P;B;P;P;P	0.57425	0.551;0.45;0.395;0.45;0.82;0.45	T	0.69312	-0.5178	9	.	.	.	.	9.3646	0.38217	0.2277:0.0:0.7723:0.0	.	419;462;457;457;428;445	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	D	992;445;377;419;428;457;462;457;382;457;428	ENSP00000452252:E992D;ENSP00000343897:E445D;ENSP00000450869:E377D;ENSP00000379468:E428D;ENSP00000339286:E457D;ENSP00000379462:E462D;ENSP00000280083:E457D;ENSP00000452562:E382D;ENSP00000343912:E457D;ENSP00000450449:E428D	.	E	+	3	2	CTAGE5;RP11-407N17.3	38854652	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.023000	0.41040	0.393000	0.25203	0.585000	0.79938	GAG		0.269	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		20	58	1	0	5.26018e-13	1	6.70247e-13	20	58				
ZNF816	125893	broad.mit.edu	37	19	53454211	53454211	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53454211C>T	ENST00000357666.4	-	5	1117	c.817G>A	c.(817-819)Gta>Ata	p.V273I	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.V273I|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGATGATATACAATGTATTGC	0.383																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(817-819)Gta>Ata		zinc finger protein 816							132.0	125.0	127.0					19																	53454211		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454211C>T	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.817G>A	19.37:g.53454211C>T	ENSP00000350295:p.Val273Ile					ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.V273I|ZNF816_ENST00000434371.2_Intron	p.V273I	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	1117	-			273					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.817G>A	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	9.006	0.981197	0.18812	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.14766	2.48;2.48	1.47	-2.06	0.07298	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.02876	-0.465	0.28249	N	0.925359	B	0.28783	0.222	B	0.37780	0.258	T	0.43605	-0.9381	9	0.22706	T	0.39	.	2.5117	0.04658	0.2283:0.4559:0.0:0.3158	.	273	Q0VGE8	ZN816_HUMAN	I	273	ENSP00000350295:V273I;ENSP00000403266:V273I	ENSP00000350295:V273I	V	-	1	0	ZNF816	58146023	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-3.584000	0.00423	-0.639000	0.05502	0.194000	0.17425	GTA		0.383	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		31	75	0	0	0	1	0	31	75				
ZNF543	125919	broad.mit.edu	37	19	57839976	57839976	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57839976C>A	ENST00000321545.4	+	4	1491	c.1146C>A	c.(1144-1146)ctC>ctA	p.L382L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGCAGACCTCATTCAACACT	0.507																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1144-1146)ctC>ctA		zinc finger protein 543							83.0	72.0	75.0					19																	57839976		2203	4300	6503	SO:0001819	synonymous_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839976C>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1146C>A	19.37:g.57839976C>A							p.L382L	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1491	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	382					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	ENST00000321545.4	37	c.1146C>A	CCDS33130.1																																																																																				0.507	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		26	56	1	0	3.6726e-16	1	4.87283e-16	26	56				
VPS13B	157680	broad.mit.edu	37	8	100568703	100568703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100568703C>T	ENST00000358544.2	+	31	4957	c.4846C>T	c.(4846-4848)Cga>Tga	p.R1616*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1591*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1616					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGAATTCTTCGAGATCCTGG	0.358																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4846-4848)Cga>Tga		vacuolar protein sorting 13 homolog B (yeast)							57.0	54.0	55.0					8																	100568703		2203	4300	6503	SO:0001587	stop_gained	157680				protein transport			g.chr8:100568703C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4846C>T	8.37:g.100568703C>T	ENSP00000351346:p.Arg1616*					VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1591*|VPS13B_ENST00000395996.1_3'UTR	p.R1616*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		31	4957	+	Breast(36;3.73e-07)		1616					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	c.4846C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	45	11.925339	0.99618	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	.	.	.	5.73	3.92	0.45320	.	0.083876	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0182	0.64536	0.3977:0.6023:0.0:0.0	.	.	.	.	X	1591;1616	.	ENSP00000349685:R1591X	R	+	1	2	VPS13B	100637879	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.026000	0.49689	0.770000	0.33336	-0.127000	0.14921	CGA		0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		15	15	0	0	0	1	0	15	15				
C18orf54	162681	broad.mit.edu	37	18	51898953	51898953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51898953G>T	ENST00000300091.5	+	6	1293	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	C18orf54_ENST00000578138.1_Nonsense_Mutation_p.E100*|C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000382911.4_Nonsense_Mutation_p.E482*	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	321						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AGATCCAAAAGAAGAGATTAA	0.303																																						ENST00000300091.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15						c.(961-963)Gaa>Taa		chromosome 18 open reading frame 54							79.0	75.0	77.0					18																	51898953		2203	4300	6503	SO:0001587	stop_gained	162681					extracellular region		g.chr18:51898953G>T	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.961G>T	18.37:g.51898953G>T	ENSP00000300091:p.Glu321*					C18orf54_ENST00000382911.4_Nonsense_Mutation_p.E482*|C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Nonsense_Mutation_p.E100*	p.E321*	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	6	1293	+			321					I7HFJ6|Q6MZU3|Q6ZTL6	Nonsense_Mutation	SNP	ENST00000300091.5	37	c.961G>T	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262558	0.59431	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	.	.	.	5.58	2.84	0.33178	.	0.547445	0.19077	N	0.123359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-2.7326	5.753	0.18158	0.2289:0.1417:0.6294:0.0	.	.	.	.	X	321;482	.	ENSP00000300091:E321X	E	+	1	0	C18orf54	50152951	0.953000	0.32496	0.008000	0.14137	0.447000	0.32167	1.858000	0.39408	0.329000	0.23460	-0.458000	0.05436	GAA		0.303	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		17	36	1	0	3.52763e-06	1	3.92945e-06	17	36				
KIAA1755	85449	broad.mit.edu	37	20	36874470	36874470	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36874470A>G	ENST00000279024.4	-	2	333	c.62T>C	c.(61-63)tTc>tCc	p.F21S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	21										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGTGGCCTCGAAAGGAGGATA	0.597																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(61-63)tTc>tCc		KIAA1755							53.0	46.0	48.0					20																	36874470		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36874470A>G	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.62T>C	20.37:g.36874470A>G	ENSP00000279024:p.Phe21Ser						p.F21S	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			2	333	-		Myeloproliferative disorder(115;0.00874)	21					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.62T>C	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598340	0.87055	.	.	ENSG00000149633	ENST00000279024	T	0.27256	1.68	5.4	4.23	0.50019	.	0.000000	0.50627	D	0.000119	T	0.50871	0.1641	M	0.80422	2.495	0.49299	D	0.999774	D	0.89917	1.0	D	0.85130	0.997	T	0.56414	-0.7983	10	0.87932	D	0	.	11.6169	0.51094	0.8516:0.1484:0.0:0.0	.	21	Q5JYT7	K1755_HUMAN	S	21	ENSP00000279024:F21S	ENSP00000279024:F21S	F	-	2	0	KIAA1755	36307884	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.331000	0.79192	2.172000	0.68678	0.533000	0.62120	TTC		0.597	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		18	29	0	0	0	1	0	18	29				
SLC26A4	5172	broad.mit.edu	37	7	107323664	107323664	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107323664T>G	ENST00000265715.3	+	7	1007	c.783T>G	c.(781-783)ttT>ttG	p.F261L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	261					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGAGATTTTTCAAAATATTG	0.388									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46	GRCh37	CI011710	SLC26A4	I		c.(781-783)ttT>ttG		solute carrier family 26 (anion exchanger), member 4							71.0	71.0	71.0					7																	107323664		2202	4300	6502	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107323664T>G	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.783T>G	7.37:g.107323664T>G	ENSP00000265715:p.Phe261Leu						p.F261L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			7	1007	+			261					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.783T>G	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597671	0.28445	.	.	ENSG00000091137	ENST00000265715	D	0.92299	-3.01	5.35	1.75	0.24633	Sulphate transporter (1);	0.137437	0.51477	D	0.000093	D	0.91696	0.7375	L	0.49640	1.575	0.80722	D	1	D	0.64830	0.994	D	0.65323	0.934	D	0.87150	0.2208	10	0.08599	T	0.76	.	9.2261	0.37407	0.0:0.1982:0.0:0.8018	.	261	O43511	S26A4_HUMAN	L	261	ENSP00000265715:F261L	ENSP00000265715:F261L	F	+	3	2	SLC26A4	107110900	0.997000	0.39634	1.000000	0.80357	0.648000	0.38561	1.717000	0.37991	0.220000	0.20860	-0.250000	0.11733	TTT		0.388	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		15	26	0	0	0	1	0	15	26				
TAS2R9	50835	broad.mit.edu	37	12	10962679	10962679	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10962679G>T	ENST00000240691.2	-	0	88				TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9						detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGCATGCCAGCAAAGACTTG	0.368																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17								taste receptor, type 2, member 9							38.0	40.0	39.0					12																	10962679		2157	4178	6335			50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962679G>T	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.-5C>A	12.37:g.10962679G>T								NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			0	88	-								Q502V7|Q50KT0|Q50KT1|Q645W9	Translation_Start_Site	SNP	ENST00000240691.2	37		CCDS8633.1																																																																																				0.368	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			15	39	1	0	7.93312e-07	1	8.98086e-07	15	39				
UBE2M	9040	broad.mit.edu	37	19	59068073	59068073	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:59068073C>T	ENST00000253023.3	-	4	906	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000601220.1_5'Flank|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000600118.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	110					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)	p.V110I(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTGAGGCAGACGTTGCCCTCG	0.587																																						ENST00000253023.3																			1	Substitution - Missense(1)	p.V110I(1)	ovary(1)	large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5						c.(328-330)Gtc>Atc		ubiquitin-conjugating enzyme E2M							88.0	78.0	81.0					19																	59068073		2203	4300	6503	SO:0001583	missense	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59068073C>T	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.328G>A	19.37:g.59068073C>T	ENSP00000253023:p.Val110Ile						p.V110I	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	4	906	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	110					O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	c.328G>A	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473574	0.43942	.	.	ENSG00000130725	ENST00000253023	T	0.72835	-0.69	4.77	3.73	0.42828	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000017	T	0.56396	0.1982	L	0.31065	0.9	0.48511	D	0.999669	P	0.44090	0.826	B	0.41646	0.362	T	0.51616	-0.8683	10	0.19147	T	0.46	-28.0597	10.9527	0.47339	0.0:0.9085:0.0:0.0915	.	110	P61081	UBC12_HUMAN	I	110	ENSP00000253023:V110I	ENSP00000253023:V110I	V	-	1	0	UBE2M	63759885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.783000	0.62403	1.384000	0.46424	0.655000	0.94253	GTC		0.587	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		10	28	0	0	0	1	0	10	28				
CCDC13	152206	broad.mit.edu	37	3	42799615	42799615	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:42799615A>C	ENST00000310232.6	-	2	305		c.e2+1		CCDC13_ENST00000435327.2_Splice_Site	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13											endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACTTGCATTTACCTCTTCTCA	0.483																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.e2+1		coiled-coil domain containing 13							99.0	90.0	93.0					3																	42799615		2203	4300	6503	SO:0001630	splice_region_variant	152206							g.chr3:42799615A>C	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.221+1T>G	3.37:g.42799615A>C						CCDC13_ENST00000435327.2_Splice_Site		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			2	305	-									Splice_Site	SNP	ENST00000310232.6	37		CCDS2705.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332699	0.60853	.	.	ENSG00000244607	ENST00000310232	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9746	0.53083	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC13	42774619	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.680000	0.61656	1.918000	0.55548	0.533000	0.62120	.		0.483	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719	Intron	21	39	0	0	0	1	0	21	39				
GRM1	2911	broad.mit.edu	37	6	146755216	146755216	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:146755216G>A	ENST00000282753.1	+	8	3104	c.2869G>A	c.(2869-2871)Gta>Ata	p.V957I	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.V957I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	957					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCTTTACAACGTAGAGGAGGA	0.587																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2869-2871)Gta>Ata		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						106.0	108.0	107.0					6																	146755216		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755216G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2869G>A	6.37:g.146755216G>A	ENSP00000282753:p.Val957Ile					GRM1_ENST00000282753.1_Missense_Mutation_p.V957I|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.V957I	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3339	+		Ovarian(120;0.0387)	957					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2869G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742845	0.69418	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	T;T	0.72167	-0.63;-0.63	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	M	0.76328	2.33	0.80722	D	1	P	0.49961	0.93	B	0.34873	0.191	T	0.73500	-0.3963	10	0.72032	D	0.01	.	19.4063	0.94648	0.0:0.0:1.0:0.0	.	957	Q13255	GRM1_HUMAN	I	957	ENSP00000354896:V957I;ENSP00000282753:V957I	ENSP00000282753:V957I	V	+	1	0	GRM1	146796909	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.351000	0.79395	2.574000	0.86865	0.462000	0.41574	GTA		0.587	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		15	138	0	0	0	1	0	15	138				
JRKL	8690	broad.mit.edu	37	11	96123832	96123832	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:96123832C>T	ENST00000332349.4	+	2	266	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000278520.5_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.R7C|CCDC82_ENST00000542662.1_5'Flank|CCDC82_ENST00000525786.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	7	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAACGGAAGCGTGTGGTGTT	0.428																																						ENST00000458427.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11						c.(19-21)Cgt>Tgt		jerky homolog-like (mouse)							84.0	86.0	86.0					11																	96123832		2201	4298	6499	SO:0001583	missense	8690				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:96123832C>T	AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.19C>T	11.37:g.96123832C>T	ENSP00000333350:p.Arg7Cys					JRKL_ENST00000332349.4_Missense_Mutation_p.R7C|JRKL_ENST00000546177.1_Intron	p.R7C	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.148)	1	675	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	7			HTH psq-type.		A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	c.19C>T	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272640	0.59649	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.61158	0.13;0.13	4.47	4.47	0.54385	Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.38217	U	0.001779	T	0.74053	0.3666	M	0.75615	2.305	0.48901	D	0.999724	D	0.89917	1.0	D	0.87578	0.998	T	0.77726	-0.2480	10	0.87932	D	0	-10.7173	12.6261	0.56630	0.0:1.0:0.0:0.0	.	7	Q9Y4A0	JERKL_HUMAN	C	7	ENSP00000333350:R7C;ENSP00000389989:R7C	ENSP00000333350:R7C	R	+	1	0	JRKL	95763480	1.000000	0.71417	0.986000	0.45419	0.938000	0.57974	1.628000	0.37060	2.047000	0.60756	0.455000	0.32223	CGT		0.428	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772		14	34	0	0	0	1	0	14	34				
F5	2153	broad.mit.edu	37	1	169529841	169529841	+	Silent	SNP	G	G	A	rs563995292	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169529841G>A	ENST00000367797.3	-	4	738	c.537C>T	c.(535-537)atC>atT	p.I179I	F5_ENST00000367796.3_Silent_p.I179I|F5_ENST00000546081.1_Silent_p.I42I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	179	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGAAATCCTCGATCAGATTTT	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		17526	0.0		0.0	False		,,,				2504	0.002					ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(535-537)atC>atT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						147.0	142.0	144.0					1																	169529841		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529841G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.537C>T	1.37:g.169529841G>A						F5_ENST00000546081.1_Silent_p.I42I|F5_ENST00000367797.3_Silent_p.I179I	p.I179I			P12259	FA5_HUMAN			4	738	-	all_hematologic(923;0.208)		179			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.537C>T	CCDS1281.1																																																																																				0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		37	68	0	0	0	1	0	37	68				
OGT	8473	broad.mit.edu	37	X	70757899	70757899	+	Missense_Mutation	SNP	G	G	A	rs368768611		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70757899G>A	ENST00000373719.3	+	3	656	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Missense_Mutation_p.V137I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	147					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACAAGCTTACGTCTCTGCTCT	0.428																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(439-441)Gtc>Atc		O-linked N-acetylglucosamine (GlcNAc) transferase			ILE/VAL,ILE/VAL	0,3835		0,0,1632,571	93.0	74.0	81.0		409,439	5.0	1.0	X		81	1,6727		0,1,2427,1872	no	missense,missense	OGT	NM_181673.2,NM_181672.2	29,29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign	137/1037,147/1047	70757899	1,10562	2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70757899G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.439G>A	X.37:g.70757899G>A	ENSP00000362824:p.Val147Ile					OGT_ENST00000373701.3_Missense_Mutation_p.V137I|OGT_ENST00000498566.1_3'UTR	p.V147I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			3	656	+	Renal(35;0.156)		147					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.439G>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	g	15.00	2.703287	0.48412	0.0	1.49E-4	ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000444774	T;T;T	0.59502	0.26;0.26;0.26	5.0	5.0	0.66597	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.062767	0.64402	D	0.000005	T	0.47210	0.1433	L	0.28054	0.825	0.80722	D	1	P;B;B	0.40660	0.726;0.394;0.023	B;B;B	0.39152	0.292;0.106;0.006	T	0.46162	-0.9211	10	0.33940	T	0.23	-13.7858	17.5272	0.87804	0.0:0.0:1.0:0.0	.	147;137;147	B4DTL6;O15294-3;O15294	.;.;OGT1_HUMAN	I	147;137;130	ENSP00000362824:V147I;ENSP00000362805:V137I;ENSP00000399729:V130I	ENSP00000362805:V137I	V	+	1	0	OGT	70674624	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.308000	0.96247	2.323000	0.78572	0.525000	0.51046	GTC		0.428	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		13	21	0	0	0	1	0	13	21				
TNFSF4	7292	broad.mit.edu	37	1	173155898	173155898	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173155898G>A	ENST00000281834.3	-	3	445	c.309C>T	c.(307-309)atC>atT	p.I103I	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Silent_p.I53I	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	103					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCTTCAGGGAGATGAGATAAA	0.458																																						ENST00000281834.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						c.(307-309)atC>atT		tumor necrosis factor (ligand) superfamily, member 4							110.0	114.0	113.0					1																	173155898		2203	4300	6503	SO:0001819	synonymous_variant	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155898G>A	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.309C>T	1.37:g.173155898G>A						TNFSF4_ENST00000367718.1_Silent_p.I53I	p.I103I	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN			3	445	-			103					Q5JZA5|Q8IV74|Q9HCN9	Silent	SNP	ENST00000281834.3	37	c.309C>T	CCDS1306.1																																																																																				0.458	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			26	29	0	0	0	1	0	26	29				
MTA2	9219	broad.mit.edu	37	11	62364120	62364120	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62364120G>A	ENST00000278823.2	-	9	1260	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	MTA2_ENST00000524902.1_Missense_Mutation_p.R118C|MTA2_ENST00000527204.1_Missense_Mutation_p.R118C	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	291	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AAATCCTGGCGAATATCATTG	0.542																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(871-873)Cgc>Tgc		metastasis associated 1 family, member 2							97.0	97.0	97.0					11																	62364120		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62364120G>A	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.871C>T	11.37:g.62364120G>A	ENSP00000278823:p.Arg291Cys					MTA2_ENST00000524902.1_Missense_Mutation_p.R118C|MTA2_ENST00000527204.1_Missense_Mutation_p.R118C	p.R291C	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			9	1260	-			291			SANT.		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.871C>T	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655824	0.67586	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.43688	0.94;0.94;0.94	5.69	5.69	0.88448	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.68307	-0.5443	10	0.87932	D	0	-13.5433	17.2949	0.87168	0.0:0.0:1.0:0.0	.	291	O94776	MTA2_HUMAN	C	291;118;118	ENSP00000278823:R291C;ENSP00000431346:R118C;ENSP00000431797:R118C	ENSP00000278823:R291C	R	-	1	0	MTA2	62120696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.894000	0.87336	2.679000	0.91253	0.561000	0.74099	CGC		0.542	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		31	53	0	0	0	1	0	31	53				
RAB18	22931	broad.mit.edu	37	10	27826849	27826849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27826849G>T	ENST00000356940.6	+	7	592	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000375802.3_Nonsense_Mutation_p.E119*|RAB18_ENST00000535776.1_Nonsense_Mutation_p.E100*	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	164					brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(1)|lung(1)	3						TGCCTTTGAAGAACTTGTTGA	0.428																																						ENST00000356940.6																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(490-492)Gaa>Taa		RAB18, member RAS oncogene family							115.0	111.0	112.0					10																	27826849		2203	4300	6503	SO:0001587	stop_gained	22931				endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding	g.chr10:27826849G>T	AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"""RAB, member RAS oncogene"""	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.490G>T	10.37:g.27826849G>T	ENSP00000349415:p.Glu164*					RAB18_ENST00000535776.1_Nonsense_Mutation_p.E100*|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000375802.3_Nonsense_Mutation_p.E119*	p.E164*	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN			7	592	+			164					B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	Nonsense_Mutation	SNP	ENST00000356940.6	37	c.490G>T	CCDS7155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.568171|4.568171	0.86439|0.86439	.|.	.|.	ENSG00000099246|ENSG00000099246	ENST00000356940;ENST00000535776;ENST00000540268;ENST00000375802|ENST00000423465	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76601	.|0.4010	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73591	.|-0.3934	.|4	0.38643|.	T|.	0.18|.	.|.	19.5352|19.5352	0.95251|0.95251	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	164;100;142;119|276	.|.	ENSP00000349415:E164X|.	E|R	+|+	1|2	0|0	RAB18|RAB18	27866855|27866855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.776000|9.776000	0.99001|0.99001	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.428	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047326.2	NM_021252		25	50	1	0	1.10923e-09	1	1.34134e-09	25	50				
IL1RAP	3556	broad.mit.edu	37	3	190363530	190363530	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:190363530C>T	ENST00000412504.2	+	10	1496	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V	IL1RAP_ENST00000439062.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000447382.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000317757.3_Missense_Mutation_p.A415V|IL1RAP_ENST00000443369.2_Missense_Mutation_p.A415V|IL1RAP_ENST00000072516.3_Missense_Mutation_p.A415V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	415	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCAAGGAATGCGGAAGAAGAA	0.388																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1243-1245)gCg>gTg		interleukin 1 receptor accessory protein							109.0	109.0	109.0					3																	190363530		2203	4300	6503	SO:0001583	missense	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190363530C>T	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1244C>T	3.37:g.190363530C>T	ENSP00000412053:p.Ala415Val					IL1RAP_ENST00000443369.2_Missense_Mutation_p.A415V|IL1RAP_ENST00000072516.3_Missense_Mutation_p.A415V|IL1RAP_ENST00000447382.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000439062.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000317757.3_Missense_Mutation_p.A415V	p.A415V			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	10	1496	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		415			TIR.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.1244C>T	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999608	0.54147	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000317757	T;T;T;T;T;T	0.02421	4.3;4.3;4.3;4.3;4.3;4.3	5.63	4.75	0.60458	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.167697	0.52532	N	0.000061	T	0.03263	0.0095	L	0.41236	1.265	0.42050	D	0.991115	B;B	0.23442	0.085;0.003	B;B	0.17979	0.02;0.015	T	0.47711	-0.9096	10	0.14656	T	0.56	.	14.0855	0.64954	0.0:0.9269:0.0:0.0731	.	415;415	Q9NPH3-5;Q9NPH3	.;IL1AP_HUMAN	V	415	ENSP00000072516:A415V;ENSP00000408893:A415V;ENSP00000412053:A415V;ENSP00000401132:A415V;ENSP00000390541:A415V;ENSP00000314807:A415V	ENSP00000072516:A415V	A	+	2	0	IL1RAP	191846224	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	3.865000	0.56033	1.364000	0.46038	0.655000	0.94253	GCG		0.388	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			15	18	0	0	0	1	0	15	18				
KIAA1024	23251	broad.mit.edu	37	15	79750509	79750509	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79750509A>G	ENST00000305428.3	+	2	2095	c.2020A>G	c.(2020-2022)Aaa>Gaa	p.K674E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	674						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCACGGACCCAAACTAGAGAA	0.557																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2020-2022)Aaa>Gaa		KIAA1024							166.0	166.0	166.0					15																	79750509		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750509A>G	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2020A>G	15.37:g.79750509A>G	ENSP00000307461:p.Lys674Glu						p.K674E	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	2095	+			674					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2020A>G	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	A	3.839	-0.034272	0.07543	.	.	ENSG00000169330	ENST00000305428	T	0.33216	1.42	5.37	1.49	0.22878	.	0.423635	0.26173	N	0.025916	T	0.24890	0.0604	L	0.60455	1.87	0.09310	N	0.999998	B	0.20780	0.048	B	0.16289	0.015	T	0.16748	-1.0392	9	.	.	.	.	7.2738	0.26273	0.6524:0.2751:0.0725:0.0	.	674	Q9UPX6	K1024_HUMAN	E	674	ENSP00000307461:K674E	.	K	+	1	0	KIAA1024	77537564	0.986000	0.35501	0.002000	0.10522	0.016000	0.09150	3.740000	0.55082	0.337000	0.23665	0.482000	0.46254	AAA		0.557	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		7	247	0	0	0	1	0	7	247				
OTUD6B	51633	broad.mit.edu	37	8	92083511	92083511	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92083511G>T	ENST00000285420.4	+	2	417	c.318G>T	c.(316-318)gaG>gaT	p.E106D	GS1-251I9.4_ENST00000524003.1_RNA|GS1-251I9.4_ENST00000522817.1_RNA|OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	76							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CTACTAAGGAGAATAAGGTAT	0.373																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(316-318)gaG>gaT		OTU domain containing 6B							126.0	124.0	125.0					8																	92083511		2203	4300	6503	SO:0001583	missense	51633							g.chr8:92083511G>T		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.318G>T	8.37:g.92083511G>T	ENSP00000285420:p.Glu106Asp					OTUD6B_ENST00000404789.3_5'UTR	p.E106D	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		2	417	+			76					A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.318G>T	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	8.282	0.815800	0.16607	.	.	ENSG00000155100	ENST00000285420	D	0.95821	-3.82	5.39	0.406	0.16366	.	0.817327	0.11573	N	0.550605	D	0.90113	0.6911	L	0.43152	1.355	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78107	-0.2333	10	0.13853	T	0.58	-5.2744	5.5428	0.17047	0.3005:0.1372:0.5623:0.0	.	76	Q8N6M0	OTU6B_HUMAN	D	106	ENSP00000285420:E106D	ENSP00000285420:E106D	E	+	3	2	OTUD6B	92152687	1.000000	0.71417	0.892000	0.35008	0.851000	0.48451	1.017000	0.29989	-0.000000	0.14550	0.462000	0.41574	GAG		0.373	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		28	56	1	0	1.68575e-08	1	1.99097e-08	28	56				
MUC13	56667	broad.mit.edu	37	3	124642454	124642454	+	Missense_Mutation	SNP	G	G	A	rs373312041		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124642454G>A	ENST00000311075.3	-	3	592	c.554C>T	c.(553-555)tCg>tTg	p.S185L		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	186	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AACACATAACGAATTATCTGC	0.383																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(553-555)tCg>tTg		mucin 13, cell surface associated							137.0	116.0	123.0					3																	124642454		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124642454G>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.554C>T	3.37:g.124642454G>A	ENSP00000312235:p.Ser185Leu						p.S185L	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			3	592	-			185			EGF-like 1.		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.554C>T		.	.	.	.	.	.	.	.	.	.	G	17.42	3.385513	0.61956	.	.	ENSG00000173702	ENST00000311075;ENST00000478191	T;D	0.95656	2.08;-3.77	4.7	4.7	0.59300	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.303544	0.23973	N	0.042744	D	0.94621	0.8266	L	0.27053	0.805	0.09310	N	0.999999	D	0.76494	0.999	P	0.59546	0.859	D	0.88823	0.3300	10	0.66056	D	0.02	-23.2687	13.441	0.61112	0.0:0.0:1.0:0.0	.	185	Q9H3R2	MUC13_HUMAN	L	185;55	ENSP00000312235:S185L;ENSP00000418660:S55L	ENSP00000312235:S185L	S	-	2	0	MUC13	126125144	0.940000	0.31905	0.106000	0.21319	0.002000	0.02628	3.609000	0.54117	2.894000	0.99253	0.591000	0.81541	TCG		0.383	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		18	43	0	0	0	1	0	18	43				
PPIL2	23759	broad.mit.edu	37	22	22024873	22024873	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22024873T>G	ENST00000335025.8	+	3	192	c.101T>G	c.(100-102)tTt>tGt	p.F34C	PPIL2_ENST00000492445.2_Missense_Mutation_p.F34C|PPIL2_ENST00000412327.1_Missense_Mutation_p.F34C|PPIL2_ENST00000398831.3_Missense_Mutation_p.F34C|PPIL2_ENST00000406385.1_Missense_Mutation_p.F34C|PPIL2_ENST00000456792.2_Missense_Mutation_p.F34C					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CAAACAAATTTTCGTCGTTTA	0.368																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(100-102)tTt>tGt		peptidylprolyl isomerase (cyclophilin)-like 2							161.0	153.0	156.0					22																	22024873		2202	4300	6502	SO:0001583	missense	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22024873T>G		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.101T>G	22.37:g.22024873T>G	ENSP00000334553:p.Phe34Cys					PPIL2_ENST00000335025.7_Missense_Mutation_p.F34C|PPIL2_ENST00000456792.2_Missense_Mutation_p.F34C|PPIL2_ENST00000412327.1_Missense_Mutation_p.F34C|PPIL2_ENST00000398831.3_Missense_Mutation_p.F34C|PPIL2_ENST00000492445.2_Missense_Mutation_p.F34C	p.F34C			Q13356	PPIL2_HUMAN			3	161	+	Colorectal(54;0.105)		34						Missense_Mutation	SNP	ENST00000335025.8	37	c.101T>G	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750088	0.69533	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000458567;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.32023	1.51;1.54;1.54;1.54;1.54;1.47	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.984;0.987;0.992	T	0.71712	-0.4510	10	0.87932	D	0	.	10.7168	0.46017	0.0:0.0:0.0:1.0	.	34;34;34	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	C	34;34;34;34;65;34;34	ENSP00000390427:F34C;ENSP00000334553:F34C;ENSP00000381812:F34C;ENSP00000445312:F34C;ENSP00000384299:F34C;ENSP00000396228:F34C	ENSP00000334553:F34C	F	+	2	0	PPIL2	20354873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.046000	0.64226	2.100000	0.63781	0.460000	0.39030	TTT		0.368	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			20	35	0	0	0	1	0	20	35				
P2RY10	27334	broad.mit.edu	37	X	78216975	78216975	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:78216975G>T	ENST00000171757.2	+	4	1238	c.958G>T	c.(958-960)Ggc>Tgc	p.G320C	P2RY10_ENST00000544091.1_Missense_Mutation_p.G320C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATCCCGCCATGGCAGTTCTGT	0.448																																						ENST00000171757.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(958-960)Ggc>Tgc		purinergic receptor P2Y, G-protein coupled, 10							110.0	104.0	106.0					X																	78216975		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216975G>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.958G>T	X.37:g.78216975G>T	ENSP00000171757:p.Gly320Cys					P2RY10_ENST00000544091.1_Missense_Mutation_p.G320C	p.G320C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN			4	1238	+			320					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.958G>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	6.395	0.440951	0.12164	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.36340	1.26;1.26	4.89	0.16	0.14972	.	0.205175	0.40818	N	0.001020	T	0.20373	0.0490	N	0.19112	0.55	0.29858	N	0.827858	B	0.20550	0.046	B	0.18871	0.023	T	0.10382	-1.0632	10	0.36615	T	0.2	.	9.3042	0.37865	0.5086:0.0:0.4913:0.0	.	320	O00398	P2Y10_HUMAN	C	320	ENSP00000443138:G320C;ENSP00000171757:G320C	ENSP00000171757:G320C	G	+	1	0	P2RY10	78103631	.	.	0.002000	0.10522	0.577000	0.36160	.	.	-0.337000	0.08426	-0.195000	0.12781	GGC		0.448	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			6	105	1	0	0.000673444	1	0.000709932	6	105				
TRRAP	8295	broad.mit.edu	37	7	98515126	98515126	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98515126C>T	ENST00000359863.4	+	20	2655	c.2446C>T	c.(2446-2448)Cgg>Tgg	p.R816W	TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W|TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	816					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R816W(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGTCCCTGTGCGGCTGAGCTC	0.577																																						ENST00000359863.4																			2	Substitution - Missense(2)	p.R816W(2)	pancreas(2)	NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2446-2448)Cgg>Tgg		transformation/transcription domain-associated protein							152.0	126.0	135.0					7																	98515126		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98515126C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2446C>T	7.37:g.98515126C>T	ENSP00000352925:p.Arg816Trp					TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W	p.R816W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		20	2655	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		816					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2446C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160699	0.57368	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.07216	3.21;3.21	5.56	3.71	0.42584	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.54423	-0.8296	10	0.87932	D	0	.	14.7884	0.69821	0.2633:0.7367:0.0:0.0	.	816;530;816	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	816;816;814	ENSP00000352925:R816W;ENSP00000347733:R816W	ENSP00000347733:R816W	R	+	1	2	TRRAP	98353062	0.980000	0.34600	0.975000	0.42487	0.089000	0.18198	2.056000	0.41355	0.683000	0.31428	0.456000	0.33151	CGG		0.577	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		18	46	0	0	0	1	0	18	46				
ATP1B2	482	broad.mit.edu	37	17	7557947	7557947	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7557947T>C	ENST00000250111.4	+	5	961	c.554T>C	c.(553-555)gTc>gCc	p.V185A		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	185					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TCACTCCAGGTCATCAACTTC	0.532																																						ENST00000250111.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10						c.e5-1		ATPase, Na+/K+ transporting, beta 2 polypeptide							281.0	233.0	249.0					17																	7557947		2203	4300	6503	SO:0001630	splice_region_variant	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7557947T>C	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.553-1T>C	17.37:g.7557947T>C							p.V185_splice	NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	5	961	+		all_cancers(10;0.000178)|Prostate(122;0.081)	185					A0AV17|A8K278|D3DTQ2|O60444	Splice_Site	SNP	ENST00000250111.4	37	c.552_splice	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129166	0.56721	.	.	ENSG00000129244	ENST00000250111	T	0.38722	1.12	4.35	4.35	0.52113	.	0.212061	0.39985	N	0.001205	T	0.46034	0.1372	M	0.70275	2.135	0.44946	D	0.997961	B	0.28713	0.22	B	0.34824	0.19	T	0.52756	-0.8533	10	0.87932	D	0	0.5676	11.5777	0.50873	0.0:0.0:0.0:1.0	.	185	P14415	AT1B2_HUMAN	A	185	ENSP00000250111:V185A	ENSP00000250111:V185A	V	+	2	0	ATP1B2	7498672	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.626000	0.61269	1.836000	0.53414	0.414000	0.27820	GTC		0.532	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678	Missense_Mutation	18	136	0	0	0	1	0	18	136				
ZBTB26	57684	broad.mit.edu	37	9	125682120	125682120	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125682120A>C	ENST00000373656.3	-	2	167	c.94T>G	c.(94-96)Ttt>Gtt	p.F32V	ZBTB26_ENST00000373654.1_Missense_Mutation_p.F32V	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						ACATCACAAAATTTATTCTCT	0.328																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(94-96)Ttt>Gtt		zinc finger and BTB domain containing 26							41.0	40.0	40.0					9																	125682120		2203	4298	6501	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125682120A>C	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.94T>G	9.37:g.125682120A>C	ENSP00000362760:p.Phe32Val					ZBTB26_ENST00000373654.1_Missense_Mutation_p.F32V	p.F32V	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	167	-			32					B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.94T>G	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.802203	0.31869	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.69685	-0.42;-0.42	5.25	5.25	0.73442	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	M	0.91561	3.22	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.88546	0.3113	10	0.66056	D	0.02	.	15.1853	0.72996	1.0:0.0:0.0:0.0	.	32	Q9HCK0	ZBT26_HUMAN	V	32	ENSP00000362760:F32V;ENSP00000362758:F32V	ENSP00000362758:F32V	F	-	1	0	ZBTB26	124721941	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	8.962000	0.93254	1.984000	0.57885	0.533000	0.62120	TTT		0.328	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		10	15	0	0	0	1	0	10	15				
ZZEF1	23140	broad.mit.edu	37	17	3974124	3974124	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:3974124A>C	ENST00000381638.2	-	26	4053	c.3929T>G	c.(3928-3930)cTt>cGt	p.L1310R		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1310							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCCTTTGAAAAGTTCTGAATA	0.463																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(3928-3930)cTt>cGt		zinc finger, ZZ-type with EF-hand domain 1							128.0	124.0	126.0					17																	3974124		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3974124A>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3929T>G	17.37:g.3974124A>C	ENSP00000371051:p.Leu1310Arg						p.L1310R	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			26	4053	-			1310					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.3929T>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039266	0.75617	.	.	ENSG00000074755	ENST00000381638	T	0.36878	1.23	6.17	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	M	0.62723	1.935	0.58432	D	0.999998	D	0.89917	1.0	D	0.73380	0.98	T	0.58323	-0.7656	10	0.87932	D	0	-8.5135	12.2794	0.54755	0.9345:0.0:0.0655:0.0	.	1310	O43149	ZZEF1_HUMAN	R	1310	ENSP00000371051:L1310R	ENSP00000371051:L1310R	L	-	2	0	ZZEF1	3920873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.905000	0.69893	1.163000	0.42636	0.533000	0.62120	CTT		0.463	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		30	67	0	0	0	1	0	30	67				
DDX54	79039	broad.mit.edu	37	12	113599158	113599158	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:113599158A>C	ENST00000306014.5	-	19	2357	c.2330T>G	c.(2329-2331)aTt>aGt	p.I777S	DDX54_ENST00000314045.7_Missense_Mutation_p.I777S|DDX54_ENST00000549271.1_5'UTR	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	777					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACGATCATCAATTTTCTGTTT	0.587																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2329-2331)aTt>aGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							211.0	166.0	181.0					12																	113599158		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599158A>C	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2330T>G	12.37:g.113599158A>C	ENSP00000304072:p.Ile777Ser					DDX54_ENST00000306014.5_Missense_Mutation_p.I777S|DDX54_ENST00000549271.1_5'UTR	p.I777S	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			19	2357	-			777					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2330T>G	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158470	0.57368	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.11385	2.8;2.78	4.44	4.44	0.53790	DBP10CT (1);	0.330400	0.28515	N	0.015063	T	0.17492	0.0420	L	0.59436	1.845	0.80722	D	1	P;P	0.51057	0.906;0.941	P;P	0.48454	0.578;0.477	T	0.00899	-1.1522	10	0.66056	D	0.02	.	11.684	0.51474	1.0:0.0:0.0:0.0	.	777;777	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	S	777	ENSP00000323858:I777S;ENSP00000304072:I777S	ENSP00000304072:I777S	I	-	2	0	DDX54	112083541	1.000000	0.71417	0.958000	0.39756	0.793000	0.44817	6.127000	0.71642	1.659000	0.50751	0.260000	0.18958	ATT		0.587	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		24	27	0	0	0	1	0	24	27				
ITGA1	3672	broad.mit.edu	37	5	52211328	52211328	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52211328A>C	ENST00000282588.6	+	15	2350	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	631					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAGACACTGAAATTTTTTGGC	0.423																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1891-1893)aAa>aCa		integrin, alpha 1							172.0	171.0	172.0					5																	52211328		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52211328A>C	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1892A>C	5.37:g.52211328A>C	ENSP00000282588:p.Lys631Thr						p.K631T	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			15	2350	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	631					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1892A>C	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220764	0.58560	.	.	ENSG00000213949	ENST00000282588	T	0.55760	0.5	5.53	5.53	0.82687	.	0.045906	0.85682	D	0.000000	T	0.45498	0.1345	L	0.45352	1.415	0.58432	D	0.999996	B	0.20671	0.047	B	0.24394	0.053	T	0.44528	-0.9322	10	0.62326	D	0.03	.	10.3298	0.43816	0.9265:0.0:0.0735:0.0	.	631	P56199	ITA1_HUMAN	T	631	ENSP00000282588:K631T	ENSP00000282588:K631T	K	+	2	0	ITGA1	52247085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.072000	0.76777	2.227000	0.72691	0.528000	0.53228	AAA		0.423	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		39	63	0	0	0	1	0	39	63				
CLINT1	9685	broad.mit.edu	37	5	157218887	157218887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157218887C>A	ENST00000411809.2	-	10	1408	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E384*|CLINT1_ENST00000523094.1_Nonsense_Mutation_p.E384*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E384*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E402*	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	402					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTAACAAGTTCTACCGCTGGC	0.542																																					Colon(22;427 587 2170 6147 14291)	ENST00000523094.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(1150-1152)Gaa>Taa		clathrin interactor 1							80.0	85.0	83.0					5																	157218887		2083	4224	6307	SO:0001587	stop_gained	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157218887C>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1204G>T	5.37:g.157218887C>A	ENSP00000388340:p.Glu402*					CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E384*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E402*|CLINT1_ENST00000411809.2_Nonsense_Mutation_p.E402*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E384*	p.E384*	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	1355	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	402					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Nonsense_Mutation	SNP	ENST00000411809.2	37	c.1150G>T	CCDS47330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.30|15.30	2.791511|2.791511	0.50102|0.50102	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.382752|.	0.27096|.	N|.	0.020957|.	.|T	.|0.74749	.|0.3757	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71981	.|-0.4428	.|3	0.06891|.	T|.	0.86|.	-19.0578|-19.0578	18.3852|18.3852	0.90464|0.90464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	384;384;402;384;402|93	.|.	ENSP00000296951:E384X|.	E|R	-|-	1|2	0|0	CLINT1|CLINT1	157151465|157151465	0.000000|0.000000	0.05858|0.05858	0.947000|0.947000	0.38551|0.38551	0.185000|0.185000	0.23345|0.23345	0.049000|0.049000	0.14099|0.14099	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.542	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		28	49	1	0	1.42536e-11	1	1.77514e-11	28	49				
MAGEC1	9947	broad.mit.edu	37	X	140996502	140996502	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140996502G>T	ENST00000285879.4	+	4	3598	c.3312G>T	c.(3310-3312)aaG>aaT	p.K1104N	MAGEC1_ENST00000406005.2_Missense_Mutation_p.K171N	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1104	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTACAAGGATGCTTTGA	0.463										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3310-3312)aaG>aaT		melanoma antigen family C, 1							125.0	113.0	117.0					X																	140996502		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996502G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3312G>T	X.37:g.140996502G>T	ENSP00000285879:p.Lys1104Asn	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Missense_Mutation_p.K171N	p.K1104N	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3598	+	Acute lymphoblastic leukemia(192;6.56e-05)		1104			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.3312G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	4.792	0.147194	0.09134	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04862	4.46;3.54	1.06	0.0883	0.14454	.	.	.	.	.	T	0.03477	0.0100	L	0.29908	0.895	0.09310	N	1	P	0.47604	0.898	B	0.33690	0.168	T	0.40459	-0.9562	9	0.72032	D	0.01	.	3.1308	0.06423	0.3405:0.0:0.6595:0.0	.	1104	O60732	MAGC1_HUMAN	N	1104;171	ENSP00000285879:K1104N;ENSP00000385500:K171N	ENSP00000285879:K1104N	K	+	3	2	MAGEC1	140824168	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-1.065000	0.03458	-0.029000	0.13827	0.279000	0.19357	AAG		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		62	85	1	0	9.10829e-22	1	1.2621e-21	62	85				
RIC8A	60626	broad.mit.edu	37	11	209947	209947	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:209947C>A	ENST00000526104.1	+	3	2017	c.673C>A	c.(673-675)Ctc>Atc	p.L225I	BET1L_ENST00000486280.1_5'Flank|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000382762.3_5'Flank|RIC8A_ENST00000325207.5_Missense_Mutation_p.L225I|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000332865.6_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.L219I|BET1L_ENST00000410108.1_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	225					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATGGAGATCCTCAAAGTGCT	0.582																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(673-675)Ctc>Atc		RIC8 guanine nucleotide exchange factor A							49.0	47.0	48.0					11																	209947		2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209947C>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.673C>A	11.37:g.209947C>A	ENSP00000432008:p.Leu225Ile					RIC8A_ENST00000325207.5_Missense_Mutation_p.L225I|RIC8A_ENST00000527696.1_Missense_Mutation_p.L219I	p.L225I			Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	2017	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	225					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.673C>A		.	.	.	.	.	.	.	.	.	.	C	32	5.136229	0.94517	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696	T;T;T	0.52754	0.65;0.65;0.65	4.28	4.28	0.50868	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.73513	0.3596	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.80562	-0.1327	10	0.87932	D	0	-27.1653	16.5758	0.84637	0.0:1.0:0.0:0.0	.	219;225;225	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	I	225;225;219	ENSP00000432008:L225I;ENSP00000325941:L225I;ENSP00000434833:L219I	ENSP00000325941:L225I	L	+	1	0	RIC8A	199947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.401000	0.79962	2.313000	0.78055	0.561000	0.74099	CTC		0.582	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		6	55	1	0	2.7689e-08	1	3.25926e-08	6	55				
OR4D5	219875	broad.mit.edu	37	11	123810531	123810531	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123810531G>A	ENST00000307033.2	+	1	282	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCTTTCCTGGACTTTTGCTA	0.468																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(208-210)Gac>Aac		olfactory receptor, family 4, subfamily D, member 5							186.0	157.0	167.0					11																	123810531		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810531G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.208G>A	11.37:g.123810531G>A	ENSP00000305970:p.Asp70Asn						p.D70N	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	282	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	70					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.208G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551616	0.86127	.	.	ENSG00000171014	ENST00000307033	T	0.01165	5.24	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000094	T	0.10937	0.0267	M	0.92122	3.275	0.43183	D	0.995007	D	0.76494	0.999	D	0.72982	0.979	T	0.01051	-1.1468	10	0.87932	D	0	-13.3399	18.4948	0.90861	0.0:0.0:1.0:0.0	.	70	Q8NGN0	OR4D5_HUMAN	N	70	ENSP00000305970:D70N	ENSP00000305970:D70N	D	+	1	0	OR4D5	123315741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.376000	0.66178	2.457000	0.83068	0.655000	0.94253	GAC		0.468	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		32	63	0	0	0	1	0	32	63				
UBN1	29855	broad.mit.edu	37	16	4910745	4910745	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4910745A>C	ENST00000396658.4	+	6	1455	c.752A>C	c.(751-753)aAa>aCa	p.K251T	UBN1_ENST00000262376.6_Missense_Mutation_p.K251T|UBN1_ENST00000545171.1_Missense_Mutation_p.K251T|UBN1_ENST00000590769.1_Missense_Mutation_p.K251T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	251	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGCTAAAGAAATTTCAGAAA	0.483																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(751-753)aAa>aCa		ubinuclein 1							96.0	107.0	104.0					16																	4910745		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910745A>C	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.752A>C	16.37:g.4910745A>C	ENSP00000379894:p.Lys251Thr					UBN1_ENST00000590769.1_Missense_Mutation_p.K251T|UBN1_ENST00000262376.6_Missense_Mutation_p.K251T|UBN1_ENST00000585857.1_Intron|UBN1_ENST00000545171.1_Missense_Mutation_p.K251T	p.K251T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1455	+			251			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.752A>C	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726873	0.69074	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.55588	1.11;0.51;1.11	5.77	5.77	0.91146	.	0.046558	0.85682	D	0.000000	T	0.68174	0.2972	M	0.65975	2.015	0.46586	D	0.99911	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.96	T	0.71210	-0.4660	10	0.72032	D	0.01	-16.8741	10.6922	0.45877	0.9288:0.0:0.0712:0.0	.	251;251	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	T	251	ENSP00000262376:K251T;ENSP00000442379:K251T;ENSP00000379894:K251T	ENSP00000262376:K251T	K	+	2	0	UBN1	4850746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.621000	0.54210	2.326000	0.78906	0.533000	0.62120	AAA		0.483	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		49	72	0	0	0	1	0	49	72				
XKRX	402415	broad.mit.edu	37	X	100183298	100183298	+	5'UTR	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100183298G>A	ENST00000372956.2	-	0	600				XKRX_ENST00000328526.5_Missense_Mutation_p.S12L|XKRX_ENST00000468904.1_5'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GTCCATTGTCGAGGTTCTTTC	0.498																																						ENST00000328526.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						c.(34-36)tCg>tTg		XK, Kell blood group complex subunit-related, X-linked							181.0	178.0	179.0					X																	100183298		2203	4300	6503	SO:0001623	5_prime_UTR_variant	402415					integral to membrane|plasma membrane		g.chrX:100183298G>A	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.-5C>T	X.37:g.100183298G>A						XKRX_ENST00000468904.1_5'UTR|XKRX_ENST00000372956.2_5'UTR	p.S12L	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN			1	600	-			0					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.35C>T	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681709	0.29872	.	.	ENSG00000182489	ENST00000328526	T	0.64260	-0.09	4.5	1.68	0.24146	.	0.609863	0.14819	N	0.296602	T	0.56292	0.1975	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49835	-0.8897	7	0.51188	T	0.08	0.065	6.1438	0.20275	0.3537:0.0:0.6463:0.0	.	.	.	.	L	12	ENSP00000327570:S12L	ENSP00000327570:S12L	S	-	2	0	XKRX	100069954	0.010000	0.17322	0.000000	0.03702	0.271000	0.26615	0.077000	0.14738	0.374000	0.24650	0.429000	0.28392	TCG		0.498	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		94	195	0	0	0	1	0	94	195				
DBR1	51163	broad.mit.edu	37	3	137881390	137881390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:137881390C>A	ENST00000260803.4	-	8	1129	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	DBR1_ENST00000505015.2_Nonsense_Mutation_p.E92*	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	326					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TCCAATACTTCTTTCATACCT	0.333																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(976-978)Gaa>Taa		debranching RNA lariats 1							86.0	95.0	92.0					3																	137881390		2202	4300	6502	SO:0001587	stop_gained	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137881390C>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.976G>T	3.37:g.137881390C>A	ENSP00000260803:p.Glu326*					DBR1_ENST00000505015.2_Nonsense_Mutation_p.E92*	p.E326*	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1129	-			326					Q96GH0|Q9NXQ6	Nonsense_Mutation	SNP	ENST00000260803.4	37	c.976G>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734997	0.89482	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	.	.	.	5.86	4.96	0.65561	.	0.148067	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.3864	11.9794	0.53111	0.0:0.9129:0.0:0.0871	.	.	.	.	X	326;92	.	ENSP00000260803:E326X	E	-	1	0	DBR1	139364080	0.997000	0.39634	0.961000	0.40146	0.394000	0.30568	3.166000	0.50785	1.415000	0.47037	0.563000	0.77884	GAA		0.333	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			21	46	1	0	1.87028e-06	1	2.10206e-06	21	46				
CENPC	1060	broad.mit.edu	37	4	68372634	68372634	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:68372634C>T	ENST00000273853.6	-	11	2173	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	641					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TATCTTCATTCTTTGAGCTTC	0.343																																						ENST00000273853.6																			0											c.(1921-1923)aaG>aaA		centromere protein C							111.0	100.0	104.0					4																	68372634		1830	4079	5909	SO:0001819	synonymous_variant	1060							g.chr4:68372634C>T	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1923G>A	4.37:g.68372634C>T							p.K641K	NM_001812.2	NP_001803.2					11	2173	-								Q8IW27|Q9P0M5	Silent	SNP	ENST00000273853.6	37	c.1923G>A	CCDS47063.1																																																																																				0.343	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			8	24	0	0	0	1	0	8	24				
WDSUB1	151525	broad.mit.edu	37	2	160112755	160112755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160112755C>A	ENST00000409990.3	-	9	1340	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.E270*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.E362*	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	362	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTCAACAGTTCTTTTCCATCA	0.338																																						ENST00000409990.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						c.(1084-1086)Gaa>Taa		WD repeat, sterile alpha motif and U-box domain containing 1							98.0	97.0	98.0					2																	160112755		2203	4300	6503	SO:0001587	stop_gained	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160112755C>A	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.1084G>T	2.37:g.160112755C>A	ENSP00000387078:p.Glu362*					WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.E270*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.E362*	p.E362*	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN			9	1340	-			362			SAM.		Q53TI9|Q8N6N8	Nonsense_Mutation	SNP	ENST00000409990.3	37	c.1084G>T	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	38	6.982413	0.97979	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	19.9615	0.97252	0.0:1.0:0.0:0.0	.	.	.	.	X	362;270;362;362;362	.	ENSP00000350866:E270X	E	-	1	0	WDSUB1	159821001	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.354000	0.79424	2.713000	0.92767	0.655000	0.94253	GAA		0.338	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		10	26	1	0	1.33987e-11	1	1.67053e-11	10	26				
KIT	3815	broad.mit.edu	37	4	55602731	55602731	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55602731A>G	ENST00000288135.5	+	18	2649	c.2552A>G	c.(2551-2553)gAc>gGc	p.D851G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	851	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGAAAGTGACGTCTGGTCC	0.408		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2551-2553)gAc>gGc		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						175.0	173.0	174.0					4																	55602731		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55602731A>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2552A>G	4.37:g.55602731A>G	ENSP00000288135:p.Asp851Gly						p.D851G	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	18	2649	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		851			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2552A>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.616471	0.66672	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.98531	-4.98;-4.98	5.7	5.7	0.88788	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.99217	0.9728	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.992	D	0.99146	1.0857	10	0.87932	D	0	.	15.9745	0.80049	1.0:0.0:0.0:0.0	.	847;851	P10721-2;P10721	.;KIT_HUMAN	G	851;847	ENSP00000288135:D851G;ENSP00000390987:D847G	ENSP00000288135:D851G	D	+	2	0	KIT	55297488	1.000000	0.71417	0.611000	0.29010	0.217000	0.24651	9.190000	0.94934	2.168000	0.68352	0.533000	0.62120	GAC		0.408	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			29	72	0	0	0	1	0	29	72				
SELP	6403	broad.mit.edu	37	1	169578790	169578790	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169578790G>A	ENST00000263686.6	-	8	1322	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	SELP_ENST00000367793.2_Missense_Mutation_p.R367W|SELP_ENST00000367788.2_Missense_Mutation_p.R367W|SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.R367W|SELP_ENST00000367792.2_Missense_Mutation_p.R367W|SELP_ENST00000458599.2_Missense_Mutation_p.R367W|SELP_ENST00000367794.2_Missense_Mutation_p.R367W	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	429	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TTATCACACCGAACTATATCG	0.488																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1285-1287)Cgg>Tgg		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						167.0	138.0	148.0					1																	169578790		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578790G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1285C>T	1.37:g.169578790G>A	ENSP00000263686:p.Arg429Trp					SELP_ENST00000367792.2_Missense_Mutation_p.R367W|SELP_ENST00000367794.2_Missense_Mutation_p.R367W|SELP_ENST00000367788.2_Missense_Mutation_p.R367W|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.R367W|SELP_ENST00000367786.2_Missense_Mutation_p.R367W|SELP_ENST00000458599.2_Missense_Mutation_p.R367W	p.R429W	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			8	1322	-	all_hematologic(923;0.208)		429			Sushi 4.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1285C>T	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.29|11.29	1.596485|1.596485	0.28445|0.28445	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T|.	0.66099|.	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19|.	5.74|5.74	0.575|0.575	0.17374|0.17374	Complement control module (2);Sushi/SCR/CCP (3);|.	1.962390|.	0.01965|.	N|.	0.043581|.	T|T	0.17152|0.17152	0.0412|0.0412	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	D;B;D|.	0.71674|.	0.997;0.033;0.998|.	P;B;P|.	0.60345|.	0.873;0.015;0.857|.	T|T	0.27739|0.27739	-1.0065|-1.0065	10|5	0.66056|.	D|.	0.02|.	-0.1187|-0.1187	1.0667|1.0667	0.01612|0.01612	0.2603:0.2251:0.3722:0.1424|0.2603:0.2251:0.3722:0.1424	.|.	429;429;429|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	W|L	429;428;367;429;429;367;367;367;367;367;352|366	ENSP00000263686:R429W;ENSP00000356767:R367W;ENSP00000356768:R367W;ENSP00000356766:R367W;ENSP00000356762:R367W;ENSP00000356760:R367W|.	ENSP00000263686:R429W|.	R|S	-|-	1|2	2|0	SELP|SELP	167845414|167845414	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.060000|0.060000	0.15804|0.15804	-0.726000|-0.726000	0.04936|0.04936	0.791000|0.791000	0.33826|0.33826	0.650000|0.650000	0.86243|0.86243	CGG|TCG		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		24	45	0	0	0	1	0	24	45				
PTEN	5728	broad.mit.edu	37	10	89720871	89720871	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89720871T>G	ENST00000371953.3	+	8	2379	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	341	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		F -> V (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.F341C(1)|p.W274_F341del(1)|p.S338fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTCCAAATTTTAAGGTCAGT	0.338		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.F341C(1)|p.W274_F341del(1)|p.S338fs*1(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(1021-1023)tTt>tGt		phosphatase and tensin homolog							46.0	49.0	48.0					10																	89720871		2203	4299	6502	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720871T>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1022T>G	10.37:g.89720871T>G	ENSP00000361021:p.Phe341Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.F341C	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2379	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	341		F -> V (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.1022T>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480930	0.84747	.	.	ENSG00000171862	ENST00000371953	D	0.89123	-2.47	5.37	5.37	0.77165	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95406	0.8494	9	.	.	.	-5.5938	15.3536	0.74409	0.0:0.0:0.0:1.0	.	341	P60484	PTEN_HUMAN	C	341	ENSP00000361021:F341C	.	F	+	2	0	PTEN	89710851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.614000	0.82996	2.034000	0.60081	0.482000	0.46254	TTT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		16	33	0	0	0	1	0	16	33				
TGFBI	7045	broad.mit.edu	37	5	135383085	135383085	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:135383085C>T	ENST00000442011.2	+	6	908	c.747C>T	c.(745-747)atC>atT	p.I249I	TGFBI_ENST00000305126.8_Silent_p.I249I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	249	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTGAGATCGAGGACACCT	0.572																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(745-747)atC>atT		transforming growth factor, beta-induced, 68kDa							240.0	236.0	238.0					5																	135383085		2108	4214	6322	SO:0001819	synonymous_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135383085C>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.747C>T	5.37:g.135383085C>T						TGFBI_ENST00000305126.8_Silent_p.I249I	p.I249I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	908	+			249			FAS1 2.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	c.747C>T	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	9.305	1.054134	0.19907	.	.	ENSG00000120708	ENST00000508767	.	.	.	6.0	-5.07	0.02938	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.0916	10.9106	0.47106	0.0905:0.2391:0.0:0.6704	.	.	.	.	X	25	.	.	R	+	1	2	TGFBI	135410984	0.000000	0.05858	0.811000	0.32455	0.894000	0.52154	-2.839000	0.00738	-0.987000	0.03494	-1.060000	0.02296	CGA		0.572	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			90	159	0	0	0	1	0	90	159				
SIM1	6492	broad.mit.edu	37	6	100838345	100838345	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100838345G>T	ENST00000369208.3	-	12	2975	c.2193C>A	c.(2191-2193)tcC>tcA	p.S731S	SIM1_ENST00000262901.4_Silent_p.S731S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	731	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TACAGCCCAAGGAATAGTTTC	0.448																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(2191-2193)tcC>tcA		single-minded family bHLH transcription factor 1							171.0	158.0	162.0					6																	100838345		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838345G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2193C>A	6.37:g.100838345G>T						SIM1_ENST00000262901.4_Silent_p.S731S	p.S731S			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	12	2975	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	731			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.2193C>A	CCDS5045.1																																																																																				0.448	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		27	84	1	0	1.66031e-10	1	2.0393e-10	27	84				
ARIH1	25820	broad.mit.edu	37	15	72855808	72855808	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72855808A>G	ENST00000379887.4	+	7	1192	c.878A>G	c.(877-879)aAa>aGa	p.K293R		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	293					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CCTGATGCTAAACCTGTTCGC	0.393																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(877-879)aAa>aGa		ariadne RBR E3 ubiquitin protein ligase 1							126.0	119.0	121.0					15																	72855808		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72855808A>G	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.878A>G	15.37:g.72855808A>G	ENSP00000369217:p.Lys293Arg						p.K293R	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			7	1192	+			293					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.878A>G	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.488378	0.26686	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	T	0.63096	-0.02	5.75	5.75	0.90469	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	N	0.02830	-0.485	0.80722	D	1	B	0.10296	0.003	B	0.17433	0.018	T	0.40098	-0.9581	10	0.02654	T	1	.	16.0982	0.81144	1.0:0.0:0.0:0.0	.	293	Q9Y4X5	ARI1_HUMAN	R	293;263	ENSP00000369217:K293R	ENSP00000299305:K263R	K	+	2	0	ARIH1	70642862	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.960000	0.93117	2.202000	0.70862	0.449000	0.29647	AAA		0.393	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		11	44	0	0	0	1	0	11	44				
PCDH8	5100	broad.mit.edu	37	13	53419685	53419685	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:53419685G>T	ENST00000377942.3	-	2	2917	c.2714C>A	c.(2713-2715)tCt>tAt	p.S905Y	PCDH8_ENST00000338862.4_Missense_Mutation_p.S808Y	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	905					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCTCTGCCAGAAATGGTGTT	0.577																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2713-2715)tCt>tAt		protocadherin 8							116.0	93.0	101.0					13																	53419685		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419685G>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2714C>A	13.37:g.53419685G>T	ENSP00000367177:p.Ser905Tyr					PCDH8_ENST00000338862.4_Missense_Mutation_p.S808Y	p.S905Y	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	2	2917	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	905					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2714C>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571505	0.45798	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	D;D	0.95035	-3.59;-3.59	4.81	3.95	0.45737	.	0.000000	0.38492	N	0.001676	D	0.92328	0.7566	L	0.27053	0.805	0.26124	N	0.980513	D;D	0.60160	0.987;0.978	P;P	0.60682	0.878;0.758	D	0.83365	0.0004	10	0.06365	T	0.9	.	12.402	0.55418	0.082:0.0:0.918:0.0	.	808;905	O95206-2;O95206	.;PCDH8_HUMAN	Y	905;808;431;748	ENSP00000367177:S905Y;ENSP00000341350:S808Y	ENSP00000341350:S808Y	S	-	2	0	PCDH8	52317686	1.000000	0.71417	0.916000	0.36221	0.352000	0.29268	8.017000	0.88712	2.188000	0.69820	0.462000	0.41574	TCT		0.577	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		5	54	1	0	0.014758	1	0.015099	5	54				
ALB	213	broad.mit.edu	37	4	74283943	74283943	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:74283943C>T	ENST00000503124.1	+	10	1324	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	ALB_ENST00000295897.4_Missense_Mutation_p.P523S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.P331S|ALB_ENST00000401494.3_Missense_Mutation_p.P408S|ALB_ENST00000509063.1_Missense_Mutation_p.P523S			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACATACGTTCCCAAAGAGTT	0.428																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1567-1569)Ccc>Tcc		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						134.0	127.0	129.0					4																	74283943		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283943C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1117C>T	4.37:g.74283943C>T	ENSP00000421027:p.Pro373Ser					ALB_ENST00000415165.2_Missense_Mutation_p.P331S|ALB_ENST00000509063.1_Missense_Mutation_p.P523S|ALB_ENST00000503124.1_Missense_Mutation_p.P373S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.P408S	p.P523S	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1656	+	Breast(15;0.00102)		523			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1567C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.048241|3.048241	0.55110|0.55110	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.59364|.	0.27;0.27;0.27;0.27;0.27|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77525|0.77525	0.4143|0.4143	M|M	0.76727|0.76727	2.345|2.345	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D|.	0.89917|.	1.0;0.997;0.997;1.0;0.998|.	D;D;D;D;D|.	0.85130|.	0.997;0.96;0.96;0.98;0.971|.	T|T	0.75903|0.75903	-0.3153|-0.3153	10|5	0.87932|.	D|.	0|.	-21.6067|-21.6067	18.9296|18.9296	0.92560|0.92560	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	408;331;373;523;523|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	S|F	523;331;310;373;523;408;532|367	ENSP00000295897:P523S;ENSP00000401820:P331S;ENSP00000421027:P373S;ENSP00000422784:P523S;ENSP00000384695:P408S|.	ENSP00000295897:P523S|.	P|S	+|+	1|2	0|0	ALB|ALB	74502807|74502807	0.961000|0.961000	0.32948|0.32948	0.969000|0.969000	0.41365|0.41365	0.012000|0.012000	0.07955|0.07955	2.138000|2.138000	0.42140|0.42140	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	CCC|TCC		0.428	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		21	38	0	0	0	1	0	21	38				
YJEFN3	374887	broad.mit.edu	37	19	19643488	19643488	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19643488G>A	ENST00000514277.4	+	3	295	c.257G>A	c.(256-258)cGc>cAc	p.R86H	NDUFA13_ENST00000512771.3_Silent_p.S209S|YJEFN3_ENST00000608404.1_Intron|YJEFN3_ENST00000436027.5_Missense_Mutation_p.R36H|CTC-260F20.3_ENST00000555938.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	86	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						GAGGATTATCGCTTTGGGCGG	0.642											OREG0025384	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000514277.3																			0				NS(1)|breast(1)|lung(3)	5						c.(256-258)cGc>cAc		YjeF N-terminal domain containing 3							18.0	23.0	21.0					19																	19643488		2094	4202	6296	SO:0001583	missense	374887							g.chr19:19643488G>A		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.257G>A	19.37:g.19643488G>A	ENSP00000426964:p.Arg86His		OREG0025384	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	734	CTC-260F20.3_ENST00000586674.1_3'UTR|CTC-260F20.3_ENST00000555938.1_Intron|YJEFN3_ENST00000436027.4_Missense_Mutation_p.R36H	p.R86H	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN			3	292	+			86			YjeF N-terminal.		A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.257G>A	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764962	0.90020	.	.	ENSG00000250067	ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139	T;T	0.42513	0.97;0.97	4.13	4.13	0.48395	YjeF-related protein, N-terminal (4);	0.140924	0.45867	D	0.000322	T	0.55081	0.1898	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70935	0.928;0.971	T	0.55192	-0.8179	10	0.46703	T	0.11	1.6778	13.9582	0.64162	0.0:0.0:1.0:0.0	.	36;86	A6XGL0-2;A6XGL0	.;YJEN3_HUMAN	H	86;36;86;36	ENSP00000398520:R36H;ENSP00000426964:R86H	ENSP00000380364:R86H	R	+	2	0	YJEFN3	19504488	0.821000	0.29204	1.000000	0.80357	0.973000	0.67179	2.835000	0.48175	2.166000	0.68216	0.306000	0.20318	CGC		0.642	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		3	9	0	0	0	1	0	3	9				
CFAP69	79846	broad.mit.edu	37	7	89929205	89929205	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:89929205C>A	ENST00000389297.4	+	17	2133	c.1882C>A	c.(1882-1884)Cta>Ata	p.L628I	C7orf63_ENST00000316089.8_Missense_Mutation_p.L628I|C7orf63_ENST00000497910.1_Missense_Mutation_p.L610I	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		628										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATTCTGTAATCTAATACTTGG	0.318																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1882-1884)Cta>Ata		chromosome 7 open reading frame 63							39.0	37.0	38.0					7																	89929205		1792	4074	5866	SO:0001583	missense	79846						binding	g.chr7:89929205C>A																												ENST00000389297.4:c.1882C>A	7.37:g.89929205C>A	ENSP00000373948:p.Leu628Ile					C7orf63_ENST00000316089.8_Missense_Mutation_p.L628I|C7orf63_ENST00000497910.1_Missense_Mutation_p.L610I	p.L628I	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			17	2133	+			628					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1882C>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862514	0.51482	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.8	4.01	0.46588	Armadillo-type fold (1);	0.422292	0.23405	N	0.048531	T	0.42630	0.1211	L	0.52126	1.63	0.29358	N	0.864874	P;P;P	0.39759	0.652;0.687;0.687	B;B;B	0.43728	0.429;0.301;0.111	T	0.35276	-0.9795	10	0.30854	T	0.27	-8.8905	6.231	0.20734	0.1399:0.6468:0.0:0.2133	.	610;628;628	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	I	628;628;610;211	ENSP00000373948:L628I;ENSP00000321753:L628I;ENSP00000419549:L610I;ENSP00000391571:L211I	ENSP00000321753:L628I	L	+	1	2	C7orf63	89767141	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	0.187000	0.16998	0.801000	0.34066	0.650000	0.86243	CTA		0.318	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			7	8	1	0	2.7689e-08	1	3.25926e-08	7	8				
TEC	7006	broad.mit.edu	37	4	48178116	48178116	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:48178116T>G	ENST00000381501.3	-	3	383	c.226A>C	c.(226-228)Aat>Cat	p.N76H		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	76	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GGATACTTATTTTGACAGGGA	0.378																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(226-228)Aat>Cat		tec protein tyrosine kinase							196.0	175.0	182.0					4																	48178116		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48178116T>G	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.226A>C	4.37:g.48178116T>G	ENSP00000370912:p.Asn76His						p.N76H	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			3	383	-			76			PH.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.226A>C	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047057	0.36085	.	.	ENSG00000135605	ENST00000381501	T	0.75477	-0.94	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.055362	0.64402	D	0.000002	T	0.72350	0.3449	L	0.31664	0.95	0.41810	D	0.989964	D	0.54772	0.968	P	0.57620	0.824	T	0.68842	-0.5302	10	0.20046	T	0.44	.	10.8011	0.46489	0.1413:0.0:0.0:0.8587	.	76	P42680	TEC_HUMAN	H	76	ENSP00000370912:N76H	ENSP00000370912:N76H	N	-	1	0	TEC	47872873	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	4.811000	0.62606	2.084000	0.62774	0.523000	0.50628	AAT		0.378	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			19	37	0	0	0	1	0	19	37				
GLIS3	169792	broad.mit.edu	37	9	4118581	4118581	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:4118581C>A	ENST00000324333.10	-	3	625	c.432G>T	c.(430-432)aaG>aaT	p.K144N	GLIS3_ENST00000381971.3_Missense_Mutation_p.K299N	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	144	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCGCTCTCTTCTTGGAGCGGG	0.562																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(430-432)aaG>aaT		GLIS family zinc finger 3							120.0	107.0	111.0					9																	4118581		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118581C>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.432G>T	9.37:g.4118581C>A	ENSP00000325494:p.Lys144Asn					GLIS3_ENST00000381971.3_Missense_Mutation_p.K299N	p.K144N	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	625	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	144			Ser-rich.		B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.432G>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346230	0.61073	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.20881	2.08;2.04	5.59	4.68	0.58851	.	0.000000	0.53938	D	0.000050	T	0.42426	0.1202	M	0.77103	2.36	0.41971	D	0.99075	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.946	T	0.37197	-0.9716	10	0.54805	T	0.06	.	7.0811	0.25231	0.0:0.708:0.0:0.292	.	299;144	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	N	144;299	ENSP00000325494:K144N;ENSP00000371398:K299N	ENSP00000325494:K144N	K	-	3	2	GLIS3	4108581	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.794000	0.38774	1.336000	0.45506	0.655000	0.94253	AAG		0.562	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		52	74	1	0	2.29192e-23	1	3.20424e-23	52	74				
DDHD1	80821	broad.mit.edu	37	14	53619307	53619307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:53619307C>T	ENST00000323669.5	-	1	509	c.510G>A	c.(508-510)tgG>tgA	p.W170*	DDHD1_ENST00000395606.1_Nonsense_Mutation_p.W170*|DDHD1_ENST00000357758.3_Nonsense_Mutation_p.W170*|AL356020.1_ENST00000584587.1_RNA|RP11-547D23.1_ENST00000554235.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	170					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CCTTGTAGAACCAGCGTACCT	0.672																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(508-510)tgG>tgA		DDHD domain containing 1							51.0	42.0	45.0					14																	53619307		2202	4300	6502	SO:0001587	stop_gained	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53619307C>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.510G>A	14.37:g.53619307C>T	ENSP00000327104:p.Trp170*					DDHD1_ENST00000323669.5_Nonsense_Mutation_p.W170*|DDHD1_ENST00000395606.1_Nonsense_Mutation_p.W170*	p.W170*	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			1	693	-	Breast(41;0.037)		170					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Nonsense_Mutation	SNP	ENST00000323669.5	37	c.510G>A	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	37	6.121264	0.97300	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758	.	.	.	3.57	3.57	0.40892	.	0.158451	0.46145	D	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0972	15.3418	0.74303	0.0:1.0:0.0:0.0	.	.	.	.	X	170	.	ENSP00000327104:W170X	W	-	3	0	DDHD1	52689057	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.657000	0.74402	1.805000	0.52779	0.462000	0.41574	TGG		0.672	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			13	39	0	0	0	1	0	13	39				
STIM2	57620	broad.mit.edu	37	4	27003939	27003939	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:27003939A>T	ENST00000467011.1	+	6	1151	c.726A>T	c.(724-726)aaA>aaT	p.K242N	STIM2_ENST00000382009.3_Missense_Mutation_p.K329N|STIM2_ENST00000467087.1_Missense_Mutation_p.K242N|STIM2_ENST00000465503.1_Missense_Mutation_p.K242N|STIM2_ENST00000412829.2_Missense_Mutation_p.K329N|STIM2_ENST00000237364.5_Missense_Mutation_p.K329N	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	242					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGACATCAAAAGAACATGTTG	0.373																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(985-987)aaA>aaT		stromal interaction molecule 2							91.0	89.0	90.0					4																	27003939		2203	4299	6502	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27003939A>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.726A>T	4.37:g.27003939A>T	ENSP00000419383:p.Lys242Asn					STIM2_ENST00000412829.2_Missense_Mutation_p.K329N|STIM2_ENST00000467087.1_Missense_Mutation_p.K242N|STIM2_ENST00000465503.1_Missense_Mutation_p.K242N|STIM2_ENST00000467011.1_Missense_Mutation_p.K242N|STIM2_ENST00000237364.5_Missense_Mutation_p.K329N	p.K329N	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			6	1254	+		Breast(46;0.0503)	242					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	c.987A>T	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.929931	0.73327	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	T;T;T;T;T;T	0.80214	-1.33;-1.34;-1.35;-1.33;-1.34;-1.32	5.5	4.33	0.51752	.	0.045710	0.85682	D	0.000000	D	0.82912	0.5140	M	0.63428	1.95	0.58432	D	0.999998	D;D;D	0.63880	0.993;0.993;0.989	P;P;P	0.55923	0.738;0.617;0.787	T	0.81409	-0.0946	9	.	.	.	.	8.2364	0.31629	0.8448:0.0:0.1552:0.0	.	329;329;329	A6H8L7;E9PGD0;F5GXJ4	.;.;.	N	242;329;329;242;329;242	ENSP00000419073:K242N;ENSP00000371439:K329N;ENSP00000237364:K329N;ENSP00000419383:K242N;ENSP00000404812:K329N;ENSP00000417569:K242N	.	K	+	3	2	STIM2	26613037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.322000	0.43814	1.054000	0.40438	0.528000	0.53228	AAA		0.373	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		10	25	0	0	0	1	0	10	25				
DCLRE1B	64858	broad.mit.edu	37	1	114450763	114450763	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114450763A>G	ENST00000369563.3	+	3	934	c.488A>G	c.(487-489)cAc>cGc	p.H163R	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	163					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGCTGCCCACCAGATTGTC	0.458								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(487-489)cAc>cGc	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							162.0	146.0	152.0					1																	114450763		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114450763A>G	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.488A>G	1.37:g.114450763A>G	ENSP00000358576:p.His163Arg					DCLRE1B_ENST00000466480.1_3'UTR	p.H163R	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	934	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	163					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.488A>G	CCDS866.1	.	.	.	.	.	.	.	.	.	.	A	2.394	-0.339074	0.05243	.	.	ENSG00000118655	ENST00000369563	T	0.73258	-0.73	5.71	-3.48	0.04739	Beta-lactamase-like (1);	0.600546	0.19125	N	0.122062	T	0.12774	0.0310	N	0.01188	-0.97	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44952	-0.9294	10	0.09590	T	0.72	1.1675	9.8377	0.40980	0.5141:0.0:0.3974:0.0885	.	163	Q9H816	DCR1B_HUMAN	R	163	ENSP00000358576:H163R	ENSP00000358576:H163R	H	+	2	0	DCLRE1B	114252286	0.000000	0.05858	0.079000	0.20413	0.981000	0.71138	0.212000	0.17497	-0.531000	0.06340	0.459000	0.35465	CAC		0.458	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		5	108	0	0	0	1	0	5	108				
TRBV24-1	28563	broad.mit.edu	37	7	142364571	142364571	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142364571T>C	ENST00000390397.2	+	0	242									T cell receptor beta variable 24-1																		TATTACTCCTTTGATGTCAAA	0.458																																						ENST00000390397.2																			0																				68.0	66.0	67.0					7																	142364571		1867	4120	5987			0							g.chr7:142364571T>C	M11951		7q34	2012-02-07			ENSG00000211750	ENSG00000211750		"""T cell receptors / TRB locus"""	12203	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV241, TCRBV15S1, TCRBV24S1			OTTHUMG00000158889		7.37:g.142364571T>C														0	242	+									RNA	SNP	ENST00000390397.2	37																																																																																						0.458	TRBV24-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352499.1	NG_001333		14	26	0	0	0	1	0	14	26				
DNAH8	1769	broad.mit.edu	37	6	38813386	38813386	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38813386G>A	ENST00000359357.3	+	34	4485	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E1411K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E1628K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1411					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1411K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAGGATATCGAAGCCAAGCT	0.388																																						ENST00000359357.3																			2	Substitution - Missense(2)	p.E1411K(2)	NS(2)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4231-4233)Gaa>Aaa		dynein, axonemal, heavy chain 8							89.0	82.0	85.0					6																	38813386		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38813386G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4231G>A	6.37:g.38813386G>A	ENSP00000352312:p.Glu1411Lys					DNAH8_ENST00000449981.2_Missense_Mutation_p.E1628K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E1411K	p.E1411K							34	4485	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4231G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.628722	0.96671	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.66995	-0.24;-0.24;-0.24	5.53	5.53	0.82687	Dynein heavy chain, domain-2 (1);	0.055931	0.64402	D	0.000001	D	0.89090	0.6616	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.93228	0.6615	10	0.87932	D	0	.	19.454	0.94880	0.0:0.0:1.0:0.0	.	1411	Q96JB1	DYH8_HUMAN	K	1616;1616;1411;1411	ENSP00000333363:E1616K;ENSP00000352312:E1411K;ENSP00000402294:E1411K	ENSP00000333363:E1616K	E	+	1	0	DNAH8	38921364	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.711000	0.98735	2.604000	0.88044	0.650000	0.86243	GAA		0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		53	25	0	0	0	1	0	53	25				
UNC13C	440279	broad.mit.edu	37	15	54307590	54307590	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:54307590G>T	ENST00000260323.11	+	1	2490	c.2490G>T	c.(2488-2490)atG>atT	p.M830I	UNC13C_ENST00000545554.1_Missense_Mutation_p.M830I|UNC13C_ENST00000537900.1_Missense_Mutation_p.M830I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	830					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTCATTAATGGGGAGATTTC	0.443																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(2488-2490)atG>atT		unc-13 homolog C (C. elegans)							88.0	87.0	87.0					15																	54307590		1966	4153	6119	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307590G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2490G>T	15.37:g.54307590G>T	ENSP00000260323:p.Met830Ile					UNC13C_ENST00000537900.1_Missense_Mutation_p.M830I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M830I	p.M830I			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2490	+			830					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2490G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471439	0.26423	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81247	-1.47;-1.46;-1.47	5.69	3.82	0.43975	.	.	.	.	.	T	0.64800	0.2631	N	0.17082	0.46	0.37209	D	0.904701	B	0.02656	0.0	B	0.04013	0.001	T	0.60068	-0.7335	9	0.39692	T	0.17	.	8.0182	0.30393	0.141:0.0:0.7278:0.1312	.	830	Q8NB66	UN13C_HUMAN	I	830	ENSP00000260323:M830I;ENSP00000438156:M830I;ENSP00000442569:M830I	ENSP00000260323:M830I	M	+	3	0	UNC13C	52094882	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.615000	0.61190	0.757000	0.33036	0.650000	0.86243	ATG		0.443	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		26	35	1	0	1.26454e-06	1	1.4261e-06	26	35				
OR1C1	26188	broad.mit.edu	37	1	247921674	247921674	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247921674A>G	ENST00000408896.2	-	1	308	c.35T>C	c.(34-36)tTc>tCc	p.F12S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	12					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGAAGGACGAATTCCCTGAC	0.408																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(34-36)tTc>tCc		olfactory receptor, family 1, subfamily C, member 1							44.0	43.0	43.0					1																	247921674		1984	4148	6132	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921674A>G	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.35T>C	1.37:g.247921674A>G	ENSP00000386138:p.Phe12Ser						p.F12S	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	308	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	12					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.35T>C	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618764	0.46736	.	.	ENSG00000221888	ENST00000408896	T	0.04551	3.6	3.03	3.03	0.35002	.	.	.	.	.	T	0.33469	0.0864	H	0.98027	4.13	0.26533	N	0.974215	D	0.89917	1.0	D	0.75484	0.986	T	0.36553	-0.9743	9	0.87932	D	0	.	11.2945	0.49269	1.0:0.0:0.0:0.0	.	12	Q15619	OR1C1_HUMAN	S	12	ENSP00000386138:F12S	ENSP00000386138:F12S	F	-	2	0	OR1C1	245988297	0.321000	0.24625	0.954000	0.39281	0.330000	0.28571	2.556000	0.45862	1.378000	0.46305	0.528000	0.53228	TTC		0.408	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			4	33	0	0	0	1	0	4	33				
RIPK3	11035	broad.mit.edu	37	14	24808484	24808484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24808484C>A	ENST00000216274.5	-	3	426	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		AGCACGAATTCGTTATCCAGA	0.562																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(208-210)Gaa>Taa		receptor-interacting serine-threonine kinase 3							101.0	85.0	90.0					14																	24808484		2203	4300	6503	SO:0001587	stop_gained	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24808484C>A	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.208G>T	14.37:g.24808484C>A	ENSP00000216274:p.Glu70*					RIPK3_ENST00000554338.1_5'UTR	p.E70*	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	3	426	-			70			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Nonsense_Mutation	SNP	ENST00000216274.5	37	c.208G>T	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627158	0.46944	.	.	ENSG00000129465	ENST00000216274	.	.	.	4.14	-5.56	0.02529	.	1.713530	0.03081	N	0.158565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	3.1515	3.5035	0.07681	0.0921:0.4368:0.1517:0.3194	.	.	.	.	X	70	.	ENSP00000216274:E70X	E	-	1	0	RIPK3	23878324	0.001000	0.12720	0.000000	0.03702	0.051000	0.14879	-0.441000	0.06879	-1.137000	0.02888	0.561000	0.74099	GAA		0.562	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		37	63	1	0	1.47244e-24	1	2.06782e-24	37	63				
GNLY	10578	broad.mit.edu	37	2	85924740	85924740	+	Missense_Mutation	SNP	G	G	A	rs370130578		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:85924740G>A	ENST00000263863.4	+	4	495	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	GNLY_ENST00000524600.1_Missense_Mutation_p.V150M|GNLY_ENST00000409696.3_Missense_Mutation_p.V108M	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	123	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CCAGGGCCTCGTGGCCGGAGA	0.567																																						ENST00000409696.3																			0				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(322-324)Gtg>Atg		granulysin		G	MET/VAL,MET/VAL	0,4406		0,0,2203	83.0	76.0	79.0		367,322	-3.8	0.0	2		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNLY	NM_006433.3,NM_012483.2	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	123/146,108/131	85924740	1,13005	2203	4300	6503	SO:0001583	missense	10578				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr2:85924740G>A	X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"""T-lymphocyte activation gene 519"""	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.367G>A	2.37:g.85924740G>A	ENSP00000263863:p.Val123Met					GNLY_ENST00000524600.1_Missense_Mutation_p.V150M|GNLY_ENST00000263863.4_Missense_Mutation_p.V123M	p.V108M	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN			5	604	+			123			Saposin B-type.		P09325|Q6GU08	Missense_Mutation	SNP	ENST00000263863.4	37	c.322G>A	CCDS1984.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.622686	0.00820	0.0	1.16E-4	ENSG00000115523	ENST00000263863;ENST00000524600;ENST00000409696	T;T;T	0.74842	-0.88;-0.88;-0.88	1.9	-3.8	0.04307	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	2.194420	0.03361	N	0.197552	T	0.49440	0.1557	N	0.04508	-0.205	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.14578	0.007;0.011	T	0.32851	-0.9891	10	0.31617	T	0.26	.	5.1603	0.15058	0.2349:0.4956:0.2695:0.0	.	150;123	B4E3H9;P22749	.;GNLY_HUMAN	M	123;150;108	ENSP00000263863:V123M;ENSP00000436423:V150M;ENSP00000387116:V108M	ENSP00000263863:V123M	V	+	1	0	GNLY	85778251	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.527000	0.00946	-1.803000	0.01242	-2.236000	0.00289	GTG		0.567	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252497.1	NM_006433		22	38	0	0	0	1	0	22	38				
HPS4	89781	broad.mit.edu	37	22	26868837	26868837	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26868837G>T	ENST00000398145.2	-	5	961	c.345C>A	c.(343-345)ttC>ttA	p.F115L	HPS4_ENST00000336873.5_Missense_Mutation_p.F115L|HPS4_ENST00000398141.1_Missense_Mutation_p.F110L|HPS4_ENST00000402105.3_Missense_Mutation_p.F110L	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	115					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AAAAATTAAAGAATCCAACTA	0.463									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(343-345)ttC>ttA		Hermansky-Pudlak syndrome 4							106.0	109.0	108.0					22																	26868837		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26868837G>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.345C>A	22.37:g.26868837G>T	ENSP00000381213:p.Phe115Leu					HPS4_ENST00000398141.1_Missense_Mutation_p.F110L|HPS4_ENST00000402105.3_Missense_Mutation_p.F110L|HPS4_ENST00000336873.5_Missense_Mutation_p.F115L	p.F115L	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			5	961	-			115					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.345C>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	2.475	-0.320915	0.05386	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	5.27	2.01	0.26516	.	0.260402	0.39341	N	0.001394	T	0.63733	0.2536	N	0.01576	-0.805	0.30281	N	0.791296	B;B;B	0.14012	0.009;0.004;0.004	B;B;B	0.18561	0.022;0.004;0.004	T	0.59836	-0.7379	10	0.02654	T	1	-8.062	5.4476	0.16544	0.2503:0.1454:0.6043:0.0	.	115;115;110	Q6ICH6;Q9NQG7;Q9NQG7-3	.;HPS4_HUMAN;.	L	115;110;110;115;115;115	ENSP00000381213:F115L;ENSP00000381210:F110L;ENSP00000384185:F110L;ENSP00000338457:F115L;ENSP00000415081:F115L	ENSP00000325840:F115L	F	-	3	2	HPS4	25198837	1.000000	0.71417	0.419000	0.26584	0.563000	0.35712	0.524000	0.22940	0.783000	0.33636	0.655000	0.94253	TTC		0.463	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		43	78	1	0	1.23103e-26	1	1.74228e-26	43	78				
USP9X	8239	broad.mit.edu	37	X	41055931	41055931	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41055931T>G	ENST00000324545.8	+	28	4806	c.4173T>G	c.(4171-4173)atT>atG	p.I1391M	USP9X_ENST00000378308.2_Missense_Mutation_p.I1391M	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1391					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATAGTAATATTAATGTACCCA	0.328																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4171-4173)atT>atG		ubiquitin specific peptidase 9, X-linked							54.0	47.0	50.0					X																	41055931		1860	4133	5993	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41055931T>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4173T>G	X.37:g.41055931T>G	ENSP00000316357:p.Ile1391Met					USP9X_ENST00000378308.2_Missense_Mutation_p.I1391M	p.I1391M	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			28	4806	+			1391					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.4173T>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.862153	0.51482	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.67523	-0.27;-0.27	5.2	0.997	0.19851	.	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	L	0.36672	1.1	0.46774	D	0.999193	D;D	0.61080	0.989;0.98	P;P	0.53062	0.717;0.641	T	0.52426	-0.8577	10	0.27785	T	0.31	.	5.417	0.16380	0.2717:0.0763:0.0:0.652	.	1391;1391	Q93008-1;Q93008	.;USP9X_HUMAN	M	1391	ENSP00000367558:I1391M;ENSP00000316357:I1391M	ENSP00000316357:I1391M	I	+	3	3	USP9X	40940875	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.753000	0.38359	0.207000	0.20607	0.441000	0.28932	ATT		0.328	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		18	19	0	0	0	1	0	18	19				
CPS1	1373	broad.mit.edu	37	2	211469846	211469846	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:211469846A>G	ENST00000233072.5	+	17	2053	c.1857A>G	c.(1855-1857)caA>caG	p.Q619Q	CPS1_ENST00000451903.2_Silent_p.Q168Q|CPS1_ENST00000430249.2_Silent_p.Q625Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	619	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGACCAACCAAATTCTGGTGG	0.398																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(1855-1857)caA>caG		carbamoyl-phosphate synthase 1, mitochondrial							107.0	100.0	103.0					2																	211469846		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211469846A>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1857A>G	2.37:g.211469846A>G						CPS1_ENST00000430249.2_Silent_p.Q625Q|CPS1_ENST00000451903.2_Silent_p.Q168Q	p.Q619Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	17	2053	+			619			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.1857A>G	CCDS2393.1																																																																																				0.398	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			10	25	0	0	0	1	0	10	25				
OR8K5	219453	broad.mit.edu	37	11	55926970	55926970	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55926970G>T	ENST00000313447.1	-	1	823	c.824C>A	c.(823-825)tCt>tAt	p.S275Y		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTAAAACACAGAAGCCATTTT	0.393																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(823-825)tCt>tAt		olfactory receptor, family 8, subfamily K, member 5							106.0	91.0	96.0					11																	55926970		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926970G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.824C>A	11.37:g.55926970G>T	ENSP00000323853:p.Ser275Tyr						p.S275Y	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	823	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	275					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.824C>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512520	0.44660	.	.	ENSG00000181752	ENST00000313447	T	0.00274	8.35	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	T	0.01387	0.0045	H	0.98866	4.355	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17319	-1.0373	10	0.87932	D	0	.	14.5254	0.67884	0.0:0.0:1.0:0.0	.	275	Q8NH50	OR8K5_HUMAN	Y	275	ENSP00000323853:S275Y	ENSP00000323853:S275Y	S	-	2	0	OR8K5	55683546	0.010000	0.17322	0.896000	0.35187	0.800000	0.45204	1.716000	0.37981	2.202000	0.70862	0.465000	0.42564	TCT		0.393	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		13	22	1	0	5.50884e-06	1	6.10489e-06	13	22				
NPHP3	27031	broad.mit.edu	37	3	132403475	132403475	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132403475G>A	ENST00000337331.5	-	24	3579	c.3493C>T	c.(3493-3495)Cgg>Tgg	p.R1165W	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1165					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.R1165W(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACGTCTCCGAATATCTAAA	0.388																																						ENST00000337331.5																			1	Substitution - Missense(1)	p.R1165W(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3493-3495)Cgg>Tgg		nephronophthisis 3 (adolescent)							124.0	121.0	122.0					3																	132403475		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132403475G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3493C>T	3.37:g.132403475G>A	ENSP00000338766:p.Arg1165Trp					NPHP3_ENST00000326682.8_3'UTR	p.R1165W	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			24	3579	-			1165					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.3493C>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878541	0.51801	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000512094;ENST00000337331	T;T	0.76448	-0.05;-1.02	5.66	4.71	0.59529	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85940	0.5814	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86094	0.1552	10	0.52906	T	0.07	-15.9301	15.7212	0.77710	0.0:0.0:0.8169:0.1831	.	1165;47	Q7Z494;Q7Z491	NPHP3_HUMAN;.	W	445;227;19;1165	ENSP00000427666:R19W;ENSP00000338766:R1165W	ENSP00000338766:R1165W	R	-	1	2	NPHP3	133886165	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	3.730000	0.55006	2.680000	0.91292	0.561000	0.74099	CGG		0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		16	31	0	0	0	1	0	16	31				
VPS8	23355	broad.mit.edu	37	3	184542494	184542494	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:184542494A>C	ENST00000437079.3	+	2	245	c.74A>C	c.(73-75)aAg>aCg	p.K25T	VPS8_ENST00000436792.2_Missense_Mutation_p.K25T|VPS8_ENST00000446204.2_Missense_Mutation_p.K25T|VPS8_ENST00000287546.4_Missense_Mutation_p.K25T|VPS8_ENST00000424463.2_Missense_Mutation_p.K25T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	25							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAGCTGAATAAGTCTTTCAAT	0.358																																						ENST00000437079.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(73-75)aAg>aCg		vacuolar protein sorting 8 homolog (S. cerevisiae)							71.0	75.0	74.0					3																	184542494		1844	4092	5936	SO:0001583	missense	23355						zinc ion binding	g.chr3:184542494A>C	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.74A>C	3.37:g.184542494A>C	ENSP00000397879:p.Lys25Thr					VPS8_ENST00000436792.2_Missense_Mutation_p.K25T|VPS8_ENST00000424463.2_Missense_Mutation_p.K25T|VPS8_ENST00000446204.2_Missense_Mutation_p.K25T|VPS8_ENST00000287546.4_Missense_Mutation_p.K25T	p.K25T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		2	245	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		25					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.74A>C	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916365	0.52546	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105;ENST00000424463;ENST00000453056;ENST00000441141;ENST00000445089	T;T;T;T;T;T;T;T	0.51817	2.18;2.18;2.18;2.17;0.79;0.7;0.69;0.72	5.79	4.64	0.57946	.	0.108239	0.41605	D	0.000846	T	0.23210	0.0561	N	0.08118	0	0.24609	N	0.993736	B;B;B	0.33238	0.275;0.403;0.275	B;B;B	0.30855	0.121;0.121;0.121	T	0.10200	-1.0640	10	0.23891	T	0.37	-4.9344	7.7502	0.28892	0.9088:0.0:0.0912:0.0	.	25;25;25	Q8N3P4-2;C9JP71;Q8N3P4-3	.;.;.	T	25	ENSP00000287546:K25T;ENSP00000397879:K25T;ENSP00000404704:K25T;ENSP00000405483:K25T;ENSP00000415161:K25T;ENSP00000389480:K25T;ENSP00000409957:K25T;ENSP00000416150:K25T	ENSP00000287546:K25T	K	+	2	0	VPS8	186025188	0.986000	0.35501	1.000000	0.80357	0.855000	0.48748	2.937000	0.48979	2.201000	0.70794	0.533000	0.62120	AAG		0.358	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		8	44	0	0	0	1	0	8	44				
SSH2	85464	broad.mit.edu	37	17	28003889	28003889	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28003889G>A	ENST00000269033.3	-	7	633	c.482C>T	c.(481-483)tCg>tTg	p.S161L	SSH2_ENST00000324677.7_5'UTR|SSH2_ENST00000540801.1_Missense_Mutation_p.S188L|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	161					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTATCCGTCGATACACTGAA	0.368																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(481-483)tCg>tTg		slingshot protein phosphatase 2							108.0	103.0	105.0					17																	28003889		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:28003889G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.482C>T	17.37:g.28003889G>A	ENSP00000269033:p.Ser161Leu					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.S188L|SSH2_ENST00000324677.7_5'UTR	p.S161L	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			7	633	-			161					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.482C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483774	0.84854	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848;ENST00000324677	T;T	0.36340	1.26;1.26	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	M	0.66939	2.045	0.80722	D	1	P;P;P;B;P	0.44946	0.763;0.846;0.846;0.161;0.651	B;B;B;B;B	0.41332	0.354;0.09;0.311;0.035;0.193	T	0.46911	-0.9157	10	0.87932	D	0	-9.9818	20.8598	0.99761	0.0:0.0:1.0:0.0	.	188;161;168;161;161	F5H527;Q76I76-3;G5E957;Q76I76-4;Q76I76	.;.;.;.;SSH2_HUMAN	L	161;188;161;168	ENSP00000269033:S161L;ENSP00000444743:S188L	ENSP00000269033:S161L	S	-	2	0	SSH2	25028015	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	8.008000	0.88588	2.937000	0.99478	0.650000	0.86243	TCG		0.368	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		11	33	0	0	0	1	0	11	33				
CDH23	64072	broad.mit.edu	37	10	73442306	73442306	+	Missense_Mutation	SNP	G	G	A	rs374805957		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:73442306G>A	ENST00000224721.6	+	17	1983	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	CDH23_ENST00000299366.7_Missense_Mutation_p.V700I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACAGCACCGTCCCTGTCAC	0.552																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1978-1980)Gtc>Atc		cadherin-related 23		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4088		0,0,2044	80.0	85.0	83.0		1963,1963,1963	5.3	0.9	10		83	1,8399		0,1,4199	no	missense,missense,missense	CDH23	NM_001171930.1,NM_001171931.1,NM_022124.5	29,29,29	0,1,6243	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging	655/1382,655/1062,655/3355	73442306	1,12487	2044	4200	6244	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73442306G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1978G>A	10.37:g.73442306G>A	ENSP00000224721:p.Val660Ile					CDH23_ENST00000299366.7_Missense_Mutation_p.V700I	p.V660I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			17	1983	+			655			Cadherin 6.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1978G>A		.	.	.	.	.	.	.	.	.	.	G	27.0	4.792008	0.90453	0.0	1.19E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.31	5.31	0.75309	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000016	T	0.77452	0.4132	L	0.58969	1.84	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.991;0.934	T	0.78422	-0.2210	9	0.59425	D	0.04	.	18.98	0.92752	0.0:0.0:1.0:0.0	.	655;658;655	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	I	660;655;655;658;658;172	.	ENSP00000224721:V660I	V	+	1	0	CDH23	73112312	1.000000	0.71417	0.940000	0.37924	0.692000	0.40212	9.827000	0.99397	2.495000	0.84180	0.655000	0.94253	GTC		0.552	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		5	23	0	0	0	1	0	5	23				
ZNF714	148206	broad.mit.edu	37	19	21300262	21300262	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21300262T>G	ENST00000596143.1	+	5	1117	c.792T>G	c.(790-792)gcT>gcG	p.A264A	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	264					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(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGGTAAAGCTTTTAACCACC	0.373																																						ENST00000596143.1																			0				endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(790-792)gcT>gcG		zinc finger protein 714							31.0	33.0	33.0					19																	21300262		2175	4288	6463	SO:0001819	synonymous_variant	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300262T>G	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.792T>G	19.37:g.21300262T>G						ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	p.A264A	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN			5	1117	+			265					Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	c.792T>G	CCDS54239.1																																																																																				0.373	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		9	24	0	0	0	1	0	9	24				
C2orf71	388939	broad.mit.edu	37	2	29294728	29294728	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:29294728G>T	ENST00000331664.5	-	1	2399	c.2400C>A	c.(2398-2400)ccC>ccA	p.P800P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	800					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TAGGTGCTAAGGGCTTCCAGC	0.542																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(2398-2400)ccC>ccA		chromosome 2 open reading frame 71							74.0	75.0	75.0					2																	29294728		1962	4168	6130	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294728G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2400C>A	2.37:g.29294728G>T							p.P800P	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	2399	-			800						Silent	SNP	ENST00000331664.5	37	c.2400C>A	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		37	71	1	0	4.65686e-17	1	6.22576e-17	37	71				
RNF168	165918	broad.mit.edu	37	3	196199276	196199276	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:196199276G>A	ENST00000318037.3	-	6	1724	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	377					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CAGTAGGCACGACTCTTCATT	0.443																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(1129-1131)tCg>tTg		ring finger protein 168, E3 ubiquitin protein ligase							143.0	143.0	143.0					3																	196199276		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196199276G>A	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1130C>T	3.37:g.196199276G>A	ENSP00000320898:p.Ser377Leu						p.S377L	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	1724	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		377					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.1130C>T	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	5.595	0.294578	0.10567	.	.	ENSG00000163961	ENST00000318037	T	0.07444	3.19	6.08	0.777	0.18538	.	2.101910	0.01565	N	0.020297	T	0.07999	0.0200	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.33007	-0.9885	10	0.29301	T	0.29	-0.0255	4.3739	0.11262	0.1171:0.1578:0.4653:0.2599	.	377	Q8IYW5	RN168_HUMAN	L	377	ENSP00000320898:S377L	ENSP00000320898:S377L	S	-	2	0	RNF168	197683673	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.282000	0.18829	0.130000	0.18549	-1.094000	0.02160	TCG		0.443	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		39	64	0	0	0	1	0	39	64				
DCC	1630	broad.mit.edu	37	18	50450145	50450145	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50450145G>T	ENST00000442544.2	+	4	1382	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	DCC_ENST00000412726.1_Missense_Mutation_p.D104Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	256	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAAGGAAAAGATGCTGTCCT	0.423																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(766-768)Gat>Tat		deleted in colorectal carcinoma							145.0	118.0	127.0					18																	50450145		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50450145G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.766G>T	18.37:g.50450145G>T	ENSP00000389140:p.Asp256Tyr					DCC_ENST00000412726.1_Missense_Mutation_p.D104Y	p.D256Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1382	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	256			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.766G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472268	0.43942	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.68181	-0.31;-0.31	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.201983	0.40144	N	0.001173	D	0.85687	0.5754	M	0.91561	3.22	0.80722	D	1	D;D	0.62365	0.991;0.991	P;D	0.70016	0.827;0.967	D	0.87106	0.2182	10	0.51188	T	0.08	.	18.7545	0.91827	0.0:0.0:1.0:0.0	.	104;256	E7EQM8;P43146	.;DCC_HUMAN	Y	256;189;104	ENSP00000389140:D256Y;ENSP00000397322:D104Y	ENSP00000304146:D189Y	D	+	1	0	DCC	48704143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.295000	0.65692	2.728000	0.93425	0.650000	0.86243	GAT		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		18	21	1	0	0.0332995	1	0.0338902	18	21				
NLRP5	126206	broad.mit.edu	37	19	56538862	56538862	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56538862C>T	ENST00000390649.3	+	7	1263	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	421	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGTCAGAGGTCGTGTCTCCCC	0.547																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1261-1263)gtC>gtT		NLR family, pyrin domain containing 5							48.0	50.0	50.0					19																	56538862		2086	4204	6290	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538862C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1263C>T	19.37:g.56538862C>T							p.V421V	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1263	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	421			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1263C>T	CCDS12938.1																																																																																				0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		17	22	0	0	0	1	0	17	22				
HEPACAM	220296	broad.mit.edu	37	11	124793762	124793762	+	Missense_Mutation	SNP	G	G	A	rs373992036		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124793762G>A	ENST00000298251.4	-	3	977	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAGCATTCTCGAGTCATTGAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20957	0.0		0.0	False		,,,				2504	0.001					ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(571-573)tCg>tTg		hepatic and glial cell adhesion molecule		G	LEU/SER	1,4401	2.1+/-5.4	0,1,2200	128.0	91.0	103.0		572	5.7	1.0	11		103	0,8598		0,0,4299	no	missense	HEPACAM	NM_152722.4	145	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	191/417	124793762	1,12999	2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793762G>A	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.572C>T	11.37:g.124793762G>A	ENSP00000298251:p.Ser191Leu						p.S191L	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	977	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	191			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.572C>T	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956873	0.92726	2.27E-4	0.0	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.79033	-1.23	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.288893	0.39210	N	0.001430	D	0.83700	0.5311	M	0.79258	2.445	0.53688	D	0.999976	P;D	0.53462	0.938;0.96	P;P	0.48704	0.454;0.587	D	0.84641	0.0695	10	0.49607	T	0.09	-12.799	19.7543	0.96284	0.0:0.0:1.0:0.0	.	191;191	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	L	191	ENSP00000298251:S191L	ENSP00000298251:S191L	S	-	2	0	HEPACAM	124298972	1.000000	0.71417	0.960000	0.40013	0.920000	0.55202	6.699000	0.74613	2.676000	0.91093	0.655000	0.94253	TCG		0.582	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		18	28	0	0	0	1	0	18	28				
FAT4	79633	broad.mit.edu	37	4	126240330	126240330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126240330G>T	ENST00000394329.3	+	1	2777	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	922	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACCCTGATGAAGGTGTCAA	0.473																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(2764-2766)Gaa>Taa		FAT atypical cadherin 4							52.0	54.0	54.0					4																	126240330		1944	4155	6099	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240330G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2764G>T	4.37:g.126240330G>T	ENSP00000377862:p.Glu922*						p.E922*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2777	+			922			Cadherin 9.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.2764G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	41	8.871924	0.98986	.	.	ENSG00000196159	ENST00000394329	.	.	.	5.51	4.62	0.57501	.	0.000000	0.35179	U	0.003385	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	15.8182	0.78621	0.0:0.1359:0.8641:0.0	.	.	.	.	X	922	.	ENSP00000377862:E922X	E	+	1	0	FAT4	126459780	1.000000	0.71417	0.985000	0.45067	0.932000	0.56968	7.740000	0.84986	2.593000	0.87608	0.655000	0.94253	GAA		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		12	31	1	0	5.50884e-06	1	6.10489e-06	12	31				
UXT	8409	broad.mit.edu	37	X	47517203	47517203	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47517203C>A	ENST00000333119.3	-	3	213	c.158G>T	c.(157-159)aGa>aTa	p.R53I	UXT_ENST00000460840.1_5'Flank|RP1-212G6.7_ENST00000591832.1_RNA|UXT_ENST00000335890.2_Missense_Mutation_p.R65I|RP1-212G6.7_ENST00000590504.1_RNA	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	53					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AATGACATTTCTCAGTTGAAG	0.488																																						ENST00000335890.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						c.(193-195)aGa>aTa		ubiquitously-expressed, prefoldin-like chaperone							123.0	90.0	101.0					X																	47517203		2203	4300	6503	SO:0001583	missense	8409				centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding	g.chrX:47517203C>A	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.158G>T	X.37:g.47517203C>A	ENSP00000327797:p.Arg53Ile					UXT_ENST00000333119.3_Missense_Mutation_p.R53I	p.R65I	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN			2	347	-			53					B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP	ENST00000333119.3	37	c.194G>T	CCDS14285.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341793	0.61073	.	.	ENSG00000126756	ENST00000333119;ENST00000335890;ENST00000376964	T;T	0.39056	1.1;1.1	5.35	0.32	0.15878	Prefoldin (1);Prefoldin subunit (1);	0.172649	0.49916	D	0.000123	T	0.46946	0.1419	L	0.48642	1.525	0.43988	D	0.996686	D;P	0.60575	0.988;0.514	P;B	0.62298	0.9;0.093	T	0.32534	-0.9903	10	0.48119	T	0.1	-0.9842	7.1867	0.25803	0.0:0.4372:0.0:0.5628	.	53;53	Q9UBK9;B1AJQ0	UXT_HUMAN;.	I	53;65;53	ENSP00000327797:R53I;ENSP00000337393:R65I	ENSP00000327797:R53I	R	-	2	0	UXT	47402147	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	0.442000	0.21628	0.010000	0.14839	-0.191000	0.12829	AGA		0.488	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477		6	36	1	0	0.00116845	1	0.00122532	6	36				
TEX30	93081	broad.mit.edu	37	13	103419691	103419691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103419691C>A	ENST00000376032.4	-	5	625	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	TEX30_ENST00000376021.4_Nonsense_Mutation_p.E105*|TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376019.1_Nonsense_Mutation_p.E105*|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376029.3_Intron	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	146								p.E105*(2)|p.E146*(2)		lung(1)|urinary_tract(1)	2						AAGAGGTCTTCATCTCTGAGT	0.408																																						ENST00000376019.1																			4	Substitution - Nonsense(4)	p.E105*(2)|p.E146*(2)	urinary_tract(4)	lung(1)|urinary_tract(1)	2						c.(313-315)Gaa>Taa		testis expressed 30							106.0	102.0	103.0					13																	103419691		2203	4300	6503	SO:0001587	stop_gained	93081							g.chr13:103419691C>A	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.436G>T	13.37:g.103419691C>A	ENSP00000365200:p.Glu146*					TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376032.4_Nonsense_Mutation_p.E146*|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376021.4_Nonsense_Mutation_p.E105*	p.E105*			Q5JUR7	CM027_HUMAN			3	1149	-			146					Q5JUR8|Q96KZ8	Nonsense_Mutation	SNP	ENST00000376032.4	37	c.313G>T	CCDS9503.2	.	.	.	.	.	.	.	.	.	.	C	37	6.360392	0.97502	.	.	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	.	.	.	5.48	5.48	0.80851	.	0.046101	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-11.2866	19.7152	0.96115	0.0:1.0:0.0:0.0	.	.	.	.	X	105;105;146	.	ENSP00000365187:E105X	E	-	1	0	C13orf27	102217692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.032000	0.70918	2.733000	0.93635	0.591000	0.81541	GAA		0.408	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779		5	56	1	0	0.014758	1	0.015099	5	56				
ZNF180	7733	broad.mit.edu	37	19	44981496	44981496	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44981496C>A	ENST00000221327.4	-	5	1483	c.1202G>T	c.(1201-1203)aGa>aTa	p.R401I	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.R376I|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.R374I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R401I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTATGAGTTCTCTGATGGGA	0.448																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			2	Substitution - Missense(2)	p.R401I(2)	large_intestine(2)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1201-1203)aGa>aTa		zinc finger protein 180							66.0	68.0	67.0					19																	44981496		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981496C>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1202G>T	19.37:g.44981496C>A	ENSP00000221327:p.Arg401Ile					ZNF180_ENST00000391956.4_Missense_Mutation_p.R376I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R374I	p.R401I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1483	-		Prostate(69;0.0435)	401					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1202G>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640143	0.67244	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000344	T	0.56077	0.1961	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66979	0.877;0.948;0.948	T	0.63332	-0.6661	10	0.87932	D	0	-11.7145	17.8877	0.88862	0.0:1.0:0.0:0.0	.	376;400;401	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	401;376	ENSP00000221327:R401I;ENSP00000375818:R376I	ENSP00000221327:R401I	R	-	2	0	ZNF180	49673336	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.735000	0.26115	2.499000	0.84300	0.591000	0.81541	AGA		0.448	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		17	40	1	0	2.94398e-08	1	3.45884e-08	17	40				
FMN2	56776	broad.mit.edu	37	1	240341335	240341335	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240341335G>A	ENST00000319653.9	+	3	2127	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	633					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.D776N(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAACCTCCCGATGAGGAACA	0.483																																						ENST00000319653.9																			1	Substitution - Missense(1)	p.D776N(1)	large_intestine(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1897-1899)Gat>Aat		formin 2							99.0	95.0	96.0					1																	240341335		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240341335G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1897G>A	1.37:g.240341335G>A	ENSP00000318884:p.Asp633Asn					RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	p.D633N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		3	2127	+	Ovarian(103;0.127)	all_cancers(173;0.013)	633					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1897G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	8.146	0.786347	0.16189	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80566	-1.39;-1.39	5.37	3.48	0.39840	.	0.611616	0.16020	N	0.233367	T	0.73071	0.3540	M	0.66939	2.045	0.80722	D	1	P	0.40681	0.727	B	0.27262	0.078	T	0.73110	-0.4086	10	0.87932	D	0	.	9.5207	0.39133	0.0753:0.1425:0.7822:0.0	.	633	Q9NZ56	FMN2_HUMAN	N	66;633	ENSP00000409308:D66N;ENSP00000318884:D633N	ENSP00000318884:D633N	D	+	1	0	FMN2	238407958	0.997000	0.39634	0.497000	0.27552	0.014000	0.08584	2.790000	0.47821	0.812000	0.34326	0.650000	0.86243	GAT		0.483	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	51	0	0	0	1	0	6	51				
ZNF37A	7587	broad.mit.edu	37	10	38406445	38406445	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38406445A>C	ENST00000361085.5	+	7	711	c.366A>C	c.(364-366)aaA>aaC	p.K122N	ZNF37A_ENST00000351773.3_Missense_Mutation_p.K122N	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATATAATAAAAATGGGAACA	0.328																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(364-366)aaA>aaC		zinc finger protein 37A							72.0	85.0	81.0					10																	38406445		2201	4295	6496	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406445A>C	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.366A>C	10.37:g.38406445A>C	ENSP00000354377:p.Lys122Asn					ZNF37A_ENST00000361085.4_Missense_Mutation_p.K122N	p.K122N	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1196	+			122					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.366A>C	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	A	9.098	1.003306	0.19121	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.08634	3.07;3.07	2.62	2.62	0.31277	.	.	.	.	.	T	0.07052	0.0179	L	0.31664	0.95	0.09310	N	1	B	0.23650	0.089	B	0.19391	0.025	T	0.27839	-1.0062	9	0.62326	D	0.03	.	8.7176	0.34421	1.0:0.0:0.0:0.0	.	122	P17032	ZN37A_HUMAN	N	122	ENSP00000329141:K122N;ENSP00000354377:K122N	ENSP00000329141:K122N	K	+	3	2	ZNF37A	38446451	0.000000	0.05858	0.508000	0.27688	0.207000	0.24258	-0.678000	0.05209	1.205000	0.43262	0.482000	0.46254	AAA		0.328	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		35	82	0	0	0	1	0	35	82				
PABPC5	140886	broad.mit.edu	37	X	90691338	90691338	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:90691338G>T	ENST00000312600.3	+	2	976	c.762G>T	c.(760-762)aaG>aaT	p.K254N	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.K90N	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	254	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K254K(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGCCCAAAAGGCTGTGCTAG	0.463																																						ENST00000312600.3																			1	Substitution - coding silent(1)	p.K254K(1)	endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(760-762)aaG>aaT		poly(A) binding protein, cytoplasmic 5							74.0	73.0	73.0					X																	90691338		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691338G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.762G>T	X.37:g.90691338G>T	ENSP00000308012:p.Lys254Asn					PABPC5_ENST00000373105.1_Missense_Mutation_p.K90N	p.K254N	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	976	+			254			RRM 3.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.762G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	9.919	1.211518	0.22289	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	D;D	0.90069	-2.61;-2.61	4.39	2.62	0.31277	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.051233	0.85682	D	0.000000	D	0.83589	0.5287	L	0.43598	1.365	0.47183	D	0.999349	B	0.23854	0.092	B	0.28916	0.096	T	0.77667	-0.2502	10	0.51188	T	0.08	.	8.1638	0.31215	0.2066:0.0:0.7934:0.0	.	254	Q96DU9	PABP5_HUMAN	N	90;254;222	ENSP00000362197:K90N;ENSP00000308012:K254N	ENSP00000308012:K254N	K	+	3	2	PABPC5	90577994	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	1.686000	0.37669	0.596000	0.29794	0.529000	0.55759	AAG		0.463	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		10	73	1	0	2.80697e-09	1	3.36108e-09	10	73				
ERICH3	127254	broad.mit.edu	37	1	75039084	75039084	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:75039084C>A	ENST00000326665.5	-	14	2528	c.2310G>T	c.(2308-2310)gaG>gaT	p.E770D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		770	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCTTTCTTCTCCAGTGTAT	0.463																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2308-2310)gaG>gaT		chromosome 1 open reading frame 173							102.0	104.0	103.0					1																	75039084		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75039084C>A																												ENST00000326665.5:c.2310G>T	1.37:g.75039084C>A	ENSP00000322609:p.Glu770Asp					C1orf173_ENST00000433746.2_5'UTR	p.E770D	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2528	-			770			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2310G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146604	0.21288	.	.	ENSG00000178965	ENST00000326665	T	0.14640	2.49	4.99	2.07	0.26955	.	.	.	.	.	T	0.05410	0.0143	L	0.36672	1.1	0.09310	N	1	P	0.51933	0.949	P	0.49085	0.6	T	0.29488	-1.0010	9	0.31617	T	0.26	-0.0886	6.0061	0.19547	0.0:0.6172:0.1374:0.2454	.	770	Q5RHP9	CA173_HUMAN	D	770	ENSP00000322609:E770D	ENSP00000322609:E770D	E	-	3	2	C1orf173	74811672	0.315000	0.24571	0.005000	0.12908	0.003000	0.03518	3.350000	0.52224	0.525000	0.28522	-0.136000	0.14681	GAG		0.463	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			5	78	1	0	1.23904e-05	1	1.36503e-05	5	78				
CHODL	140578	broad.mit.edu	37	21	19628962	19628962	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:19628962G>T	ENST00000299295.2	+	2	607	c.216G>T	c.(214-216)gaG>gaT	p.E72D	CHODL_ENST00000543733.1_Missense_Mutation_p.E53D|CHODL_ENST00000400128.1_Missense_Mutation_p.E31D|CHODL_ENST00000400135.1_Missense_Mutation_p.E31D|CHODL_ENST00000400131.1_Missense_Mutation_p.E31D|CHODL_ENST00000338326.3_Missense_Mutation_p.E31D|CHODL_ENST00000400127.1_Missense_Mutation_p.E31D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	72	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TCAGCCTTGAGAATGAAGCAG	0.502																																						ENST00000299295.2																			0				kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(214-216)gaG>gaT		chondrolectin							81.0	85.0	83.0					21																	19628962		2203	4300	6503	SO:0001583	missense	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19628962G>T	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.216G>T	21.37:g.19628962G>T	ENSP00000299295:p.Glu72Asp					CHODL_ENST00000400131.1_Missense_Mutation_p.E31D|CHODL_ENST00000400135.1_Missense_Mutation_p.E31D|CHODL_ENST00000543733.1_Missense_Mutation_p.E53D|CHODL_ENST00000338326.3_Missense_Mutation_p.E31D|CHODL_ENST00000400127.1_Missense_Mutation_p.E31D|CHODL_ENST00000400128.1_Missense_Mutation_p.E31D	p.E72D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	2	607	+		all_epithelial(11;0.21)	72			C-type lectin.		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	c.216G>T	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071024	0.55646	.	.	ENSG00000154645	ENST00000427223;ENST00000452759;ENST00000465099;ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.84	3.02	0.34903	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.342816	0.36628	N	0.002487	T	0.31420	0.0796	L	0.49350	1.555	0.41982	D	0.990809	B;B;D	0.62365	0.007;0.001;0.991	B;B;D	0.65874	0.011;0.007;0.939	T	0.04427	-1.0952	9	.	.	.	-8.1173	5.3596	0.16081	0.2842:0.1466:0.5692:0.0	.	72;53;31	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	D	31;31;31;31;31;31;31;72;31;53	ENSP00000382993:E31D;ENSP00000382996:E31D;ENSP00000383001:E31D;ENSP00000382992:E31D;ENSP00000299295:E72D;ENSP00000339975:E31D;ENSP00000443566:E53D	.	E	+	3	2	CHODL	18550833	0.999000	0.42202	0.994000	0.49952	0.998000	0.95712	0.943000	0.29030	0.807000	0.34208	0.650000	0.86243	GAG		0.502	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		11	84	1	0	0.000673444	1	0.000709932	11	84				
ROR1	4919	broad.mit.edu	37	1	64605808	64605808	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:64605808T>C	ENST00000371079.1	+	6	1002	c.627T>C	c.(625-627)atT>atC	p.I209I	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Silent_p.I209I|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	209	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TCACTATGATTGGCACTTCCA	0.438																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(625-627)atT>atC		receptor tyrosine kinase-like orphan receptor 1							86.0	72.0	77.0					1																	64605808		2203	4300	6503	SO:0001819	synonymous_variant	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64605808T>C	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.627T>C	1.37:g.64605808T>C						RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000371080.1_Silent_p.I209I|ROR1_ENST00000482426.1_3'UTR	p.I209I	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			6	1002	+			209			FZ.		Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	c.627T>C	CCDS626.1																																																																																				0.438	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		14	22	0	0	0	1	0	14	22				
BCO1	53630	broad.mit.edu	37	16	81279168	81279168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81279168C>T	ENST00000425577.2	+	2	373	c.76C>T	c.(76-78)Cga>Tga	p.R26*	BCMO1_ENST00000258168.2_Silent_p.F51F|BCMO1_ENST00000564552.1_Silent_p.F51F																breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCATTGGTTCGACGGCCTTG	0.577																																						ENST00000425577.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(76-78)Cga>Tga		beta-carotene 15,15'-monooxygenase 1							129.0	117.0	121.0					16																	81279168		2202	4300	6502	SO:0001587	stop_gained	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81279168C>T																												ENST00000425577.2:c.76C>T	16.37:g.81279168C>T	ENSP00000400586:p.Arg26*					BCMO1_ENST00000258168.2_Silent_p.F51F|BCMO1_ENST00000564552.1_Silent_p.F51F	p.R26*			Q9HAY6	BCDO1_HUMAN			2	373	+			0						Nonsense_Mutation	SNP	ENST00000425577.2	37	c.76C>T		.	.	.	.	.	.	.	.	.	.	C	22.1	4.250049	0.80024	.	.	ENSG00000135697	ENST00000425577	.	.	.	5.04	-10.1	0.00402	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-23.8258	16.2421	0.82418	0.0:0.5325:0.0:0.4674	.	.	.	.	X	26	.	ENSP00000400586:R26X	R	+	1	2	BCMO1	79836669	0.046000	0.20272	0.674000	0.29902	0.227000	0.25037	-0.969000	0.03813	-1.968000	0.01006	-2.136000	0.00340	CGA		0.577	BCMO1-201	KNOWN	basic	protein_coding	protein_coding				34	86	0	0	0	1	0	34	86				
GNAT2	2780	broad.mit.edu	37	1	110155430	110155430	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110155430C>A	ENST00000351050.3	-	1	249	c.63G>T	c.(61-63)aaG>aaT	p.K21N		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	21					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		CCTGCAGCTTCTTTTCTAGCT	0.527																																						ENST00000351050.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(61-63)aaG>aaT		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2							215.0	189.0	198.0					1																	110155430		2203	4300	6503	SO:0001583	missense	2780				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	g.chr1:110155430C>A	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.63G>T	1.37:g.110155430C>A	ENSP00000251337:p.Lys21Asn						p.K21N	NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)	1	249	-		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	21						Missense_Mutation	SNP	ENST00000351050.3	37	c.63G>T	CCDS803.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265098	0.80358	.	.	ENSG00000134183	ENST00000351050	D	0.89196	-2.48	5.28	4.37	0.52481	.	0.113146	0.64402	D	0.000013	D	0.89114	0.6623	M	0.75447	2.3	0.58432	D	0.999998	P	0.52842	0.956	P	0.54100	0.742	D	0.88240	0.2909	10	0.36615	T	0.2	.	13.4491	0.61161	0.0:0.9242:0.0:0.0758	.	21	P19087	GNAT2_HUMAN	N	21	ENSP00000251337:K21N	ENSP00000251337:K21N	K	-	3	2	GNAT2	109956953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.993000	0.49425	1.452000	0.47756	0.655000	0.94253	AAG		0.527	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		42	70	1	0	1.67305e-13	1	2.14637e-13	42	70				
ABCA7	10347	broad.mit.edu	37	19	1042699	1042699	+	Intron	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1042699A>G	ENST00000263094.6	+	7	729				ABCA7_ENST00000433129.1_Intron|ABCA7_ENST00000435683.2_Silent_p.L13L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7						apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACCCCTAGTGAGTGTTC	0.552																																						ENST00000435683.2																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(37-39)ctA>ctG		ATP-binding cassette, sub-family A (ABC1), member 7							47.0	53.0	51.0					19																	1042699		2203	4300	6503	SO:0001627	intron_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1042699A>G	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.499-46A>G	19.37:g.1042699A>G						ABCA7_ENST00000263094.6_Intron|ABCA7_ENST00000433129.1_Intron	p.L13L			Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	39	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	0					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.39A>G	CCDS12055.1																																																																																				0.552	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		9	49	0	0	0	1	0	9	49				
CYP39A1	51302	broad.mit.edu	37	6	46555824	46555824	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46555824A>C	ENST00000275016.2	-	9	1311	c.1108T>G	c.(1108-1110)Ttt>Gtt	p.F370V	CYP39A1_ENST00000489657.1_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	370					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TGCAGCCAAAATGGAGACAAC	0.289																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(1108-1110)Ttt>Gtt		cytochrome P450, family 39, subfamily A, polypeptide 1							57.0	61.0	59.0					6																	46555824		2202	4296	6498	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46555824A>C	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1108T>G	6.37:g.46555824A>C	ENSP00000275016:p.Phe370Val						p.F370V	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			9	1311	-			370					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.1108T>G	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740207	0.89573	.	.	ENSG00000146233	ENST00000275016	T	0.67865	-0.29	6.06	6.06	0.98353	.	0.058289	0.64402	D	0.000002	T	0.70046	0.3179	L	0.54965	1.715	0.44547	D	0.997501	D;D	0.89917	0.999;1.0	D;D	0.72625	0.975;0.978	T	0.66300	-0.5958	10	0.17832	T	0.49	-24.8215	16.6093	0.84858	1.0:0.0:0.0:0.0	.	350;370	B7Z786;Q9NYL5	.;CP39A_HUMAN	V	370	ENSP00000275016:F370V	ENSP00000275016:F370V	F	-	1	0	CYP39A1	46663783	1.000000	0.71417	0.985000	0.45067	0.976000	0.68499	7.370000	0.79589	2.324000	0.78689	0.533000	0.62120	TTT		0.289	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			16	29	0	0	0	1	0	16	29				
LRPAP1	4043	broad.mit.edu	37	4	3517921	3517921	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3517921G>A	ENST00000500728.2	-	6	902	c.756C>T	c.(754-756)ttC>ttT	p.F252F	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	252	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGGGCTCCTCGAACTCTGCAG	0.657																																						ENST00000500728.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(754-756)ttC>ttT		low density lipoprotein receptor-related protein associated protein 1							38.0	32.0	34.0					4																	3517921		2189	4293	6482	SO:0001819	synonymous_variant	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3517921G>A		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.756C>T	4.37:g.3517921G>A						LRPAP1_ENST00000296325.5_5'UTR	p.F252F	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	6	902	-			252			LDL receptor binding (Potential).		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	ENST00000500728.2	37	c.756C>T	CCDS3371.1																																																																																				0.657	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			3	4	0	0	0	1	0	3	4				
C2orf44	80304	broad.mit.edu	37	2	24261807	24261807	+	Silent	SNP	G	G	A	rs151169389	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:24261807G>A	ENST00000295148.4	-	2	615	c.558C>T	c.(556-558)agC>agT	p.S186S	C2orf44_ENST00000406895.3_Silent_p.S186S	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	186									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTGAGCGCTGTCCCAAA	0.557			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(556-558)agC>agT		chromosome 2 open reading frame 44		A	,	2,4404	826.0+/-416.6	0,2,2201	52.0	48.0	49.0		558,558	2.6	0.8	2	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C2orf44	NM_001142319.1,NM_025203.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	186/623,186/722	24261807	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80304						protein binding	g.chr2:24261807G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.558C>T	2.37:g.24261807G>A						C2orf44_ENST00000406895.3_Silent_p.S186S	p.S186S	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	615	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		186					D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	c.558C>T	CCDS1705.1																																																																																				0.557	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		10	37	0	0	0	1	0	10	37				
OR2M4	26245	broad.mit.edu	37	1	248402359	248402359	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248402359T>G	ENST00000306687.1	+	1	129	c.129T>G	c.(127-129)atT>atG	p.I43M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	43					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			TGGAAAATATTTCCATGGTTC	0.483																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(127-129)atT>atG		olfactory receptor, family 2, subfamily M, member 4							174.0	169.0	171.0					1																	248402359		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402359T>G	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.129T>G	1.37:g.248402359T>G	ENSP00000306688:p.Ile43Met						p.I43M	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	129	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		43					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.129T>G	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	t	1.427	-0.571418	0.03882	.	.	ENSG00000171180	ENST00000306687	T	0.03035	4.07	3.08	-6.16	0.02098	GPCR, rhodopsin-like superfamily (1);	2.660430	0.02053	N	0.050191	T	0.02610	0.0079	N	0.25485	0.75	0.09310	N	1	B	0.18310	0.027	B	0.14578	0.011	T	0.38993	-0.9635	10	0.46703	T	0.11	.	0.9488	0.01371	0.2295:0.1758:0.3482:0.2465	.	43	Q96R27	OR2M4_HUMAN	M	43	ENSP00000306688:I43M	ENSP00000306688:I43M	I	+	3	3	OR2M4	246468982	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-3.316000	0.00515	-1.580000	0.01644	-0.641000	0.03968	ATT		0.483	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		43	83	0	0	0	1	0	43	83				
CSF2RA	1438	broad.mit.edu	37	X	1407680	1407680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1407680C>A	ENST00000381524.3	+	6	558	c.372C>A	c.(370-372)ttC>ttA	p.F124L	CSF2RA_ENST00000381509.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000355805.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000355432.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381500.1_Missense_Mutation_p.F124L|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000432318.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.F124L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	124					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCAGAATTTCTCCTGTTTCA	0.488																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(370-372)ttC>ttA		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						184.0	194.0	190.0					X																	1407680		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407680C>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.372C>A	X.37:g.1407680C>A	ENSP00000370935:p.Phe124Leu					CSF2RA_ENST00000417535.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.F124L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000355805.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.F124L	p.F124L			P15509	CSF2R_HUMAN			6	558	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	124					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.372C>A	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	8.273	0.813791	0.16537	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	2.19	1.28	0.21552	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.45867	U	0.000325	T	0.64046	0.2563	.	.	.	0.09310	N	0.999998	D;D;D;D;D;D	0.76494	0.957;0.999;0.996;0.999;0.999;0.999	P;D;D;D;D;D	0.83275	0.682;0.986;0.977;0.996;0.976;0.981	T	0.60000	-0.7348	9	0.02654	T	1	.	3.8747	0.09051	0.0:0.7668:0.0:0.2332	.	124;124;124;124;124;124	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	L	124	ENSP00000370940:F124L;ENSP00000416437:F124L;ENSP00000354836:F124L;ENSP00000370935:F124L;ENSP00000410667:F124L;ENSP00000397452:F124L;ENSP00000370920:F124L;ENSP00000348058:F124L;ENSP00000347606:F124L;ENSP00000394227:F124L;ENSP00000370911:F124L	ENSP00000347606:F124L	F	+	3	2	CSF2RA	1367680	0.995000	0.38212	0.635000	0.29338	0.042000	0.13812	0.513000	0.22770	1.164000	0.42652	0.280000	0.19369	TTC		0.488	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			64	138	1	0	6.26901e-30	1	8.94914e-30	64	138				
TMTC1	83857	broad.mit.edu	37	12	29659799	29659799	+	Nonsense_Mutation	SNP	G	G	A	rs200566462		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:29659799G>A	ENST00000539277.1	-	18	2687	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	TMTC1_ENST00000552618.1_Nonsense_Mutation_p.R901*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.R939*|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Nonsense_Mutation_p.R769*	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	877						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCCTTTTCTCGAACTTCTTGT	0.453													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19629	0.0		0.0	False		,,,				2504	0.0					ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2305-2307)Cga>Tga		transmembrane and tetratricopeptide repeat containing 1		G	stop/ARG,stop/ARG	0,4406		0,0,2203	293.0	278.0	283.0		2629,2305	3.0	1.0	12		283	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained	TMTC1	NM_001193451.1,NM_175861.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	877/883,769/775	29659799	1,13005	2203	4300	6503	SO:0001587	stop_gained	83857					integral to membrane	binding	g.chr12:29659799G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2629C>T	12.37:g.29659799G>A	ENSP00000442046:p.Arg877*					TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.R901*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.R939*|TMTC1_ENST00000539277.1_Nonsense_Mutation_p.R877*	p.R769*	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			18	2778	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		877					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Nonsense_Mutation	SNP	ENST00000539277.1	37	c.2305C>T	CCDS53772.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	43	9.983998	0.99310	0.0	1.16E-4	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	.	.	.	5.13	3.05	0.35203	.	0.566102	0.16528	N	0.210512	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0756	12.1991	0.54315	0.0:0.0:0.4593:0.5407	.	.	.	.	X	640;769;939;901;877	.	ENSP00000256062:R769X	R	-	1	2	TMTC1	29551066	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	2.235000	0.43044	0.362000	0.24319	0.650000	0.86243	CGA		0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		37	74	0	0	0	1	0	37	74				
ZNF354B	117608	broad.mit.edu	37	5	178309997	178309997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178309997G>T	ENST00000322434.3	+	5	770	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTGCTAAAGAAAAAACTCC	0.299																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(544-546)Gaa>Taa		zinc finger protein 354B							33.0	35.0	34.0					5																	178309997		2194	4289	6483	SO:0001587	stop_gained	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178309997G>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.544G>T	5.37:g.178309997G>T	ENSP00000327143:p.Glu182*						p.E182*	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	770	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	182					A8K0V2|Q5U5Z4	Nonsense_Mutation	SNP	ENST00000322434.3	37	c.544G>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681599	0.47991	.	.	ENSG00000178338	ENST00000322434	.	.	.	3.53	2.62	0.31277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	5.1798	0.15154	0.1225:0.2125:0.665:0.0	.	.	.	.	X	182	.	ENSP00000327143:E182X	E	+	1	0	ZNF354B	178242603	1.000000	0.71417	0.376000	0.26042	0.048000	0.14542	4.527000	0.60573	1.805000	0.52779	0.561000	0.74099	GAA		0.299	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		9	22	1	0	0.000442599	1	0.00046913	9	22				
NBPF1	55672	broad.mit.edu	37	1	16892261	16892261	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16892261G>T	ENST00000430580.2	-	27	3818	c.2931C>A	c.(2929-2931)gtC>gtA	p.V977V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	977	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTCCTGCAAGACTTCAGGCT	0.498																																						ENST00000430580.2																			0											c.(2929-2931)gtC>gtA		neuroblastoma breakpoint family, member 1							23.0	19.0	20.0					1																	16892261		1492	2616	4108	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16892261G>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2931C>A	1.37:g.16892261G>T							p.V977V	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3818	-			977			NBPF 6.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2931C>A																																																																																					0.498	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		8	740	1	0	7.48243e-07	1	8.49459e-07	8	740				
SEPT2	4735	broad.mit.edu	37	2	242274562	242274562	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242274562C>T	ENST00000391973.2	+	4	680	c.152C>T	c.(151-153)tCg>tTg	p.S51L	SEPT2_ENST00000360051.3_Missense_Mutation_p.S51L|SEPT2_ENST00000402092.2_Missense_Mutation_p.S51L|SEPT2_ENST00000407971.1_Missense_Mutation_p.S11L|SEPT2_ENST00000391971.2_Missense_Mutation_p.S51L|SEPT2_ENST00000401990.1_Missense_Mutation_p.S51L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	51	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CTAGGAAAATCGACTCTCATA	0.363																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(151-153)tCg>tTg		septin 2							86.0	79.0	81.0					2																	242274562		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242274562C>T	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.152C>T	2.37:g.242274562C>T	ENSP00000375834:p.Ser51Leu					SEPT2_ENST00000391971.2_Missense_Mutation_p.S51L|SEPT2_ENST00000401990.1_Missense_Mutation_p.S51L|SEPT2_ENST00000360051.3_Missense_Mutation_p.S51L|SEPT2_ENST00000402092.2_Missense_Mutation_p.S51L|SEPT2_ENST00000407971.1_Missense_Mutation_p.S11L	p.S51L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	4	680	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	51					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.152C>T	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567422	0.96540	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000445030;ENST00000407017;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000436795;ENST00000411484;ENST00000434955;ENST00000402092;ENST00000441533;ENST00000443492;ENST00000437066;ENST00000420786;ENST00000391972;ENST00000449239	T;T;T;T;T;T;T;D;T;T;T;T;T;T;T;T;T	0.86497	0.1;0.1;0.1;0.1;0.44;0.1;0.1;-2.13;0.1;0.1;0.1;0.1;0.1;1.12;0.1;0.1;0.1	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.96485	0.8853	H	0.97918	4.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.97574	1.0106	10	0.87932	D	0	.	19.9197	0.97082	0.0:1.0:0.0:0.0	.	86;11;51	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	L	51;11;51;51;11;51;51;11;51;62;51;51;51;11;51;51;86;51	ENSP00000375834:S51L;ENSP00000397195:S11L;ENSP00000353157:S51L;ENSP00000404484:S51L;ENSP00000386001:S11L;ENSP00000375832:S51L;ENSP00000385109:S51L;ENSP00000384525:S11L;ENSP00000406181:S51L;ENSP00000394666:S62L;ENSP00000399767:S51L;ENSP00000385172:S51L;ENSP00000413031:S51L;ENSP00000399195:S11L;ENSP00000412434:S51L;ENSP00000409596:S51L;ENSP00000391717:S51L	ENSP00000353157:S51L	S	+	2	0	SEPT2	241923235	1.000000	0.71417	0.986000	0.45419	0.882000	0.50991	7.563000	0.82314	2.702000	0.92279	0.655000	0.94253	TCG		0.363	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		8	8	0	0	0	1	0	8	8				
MKI67	4288	broad.mit.edu	37	10	129906274	129906274	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:129906274T>C	ENST00000368654.3	-	13	4205	c.3830A>G	c.(3829-3831)gAt>gGt	p.D1277G	MKI67_ENST00000368653.3_Missense_Mutation_p.D917G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1277	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCCTCTACATCTGCTTTCCT	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3829-3831)gAt>gGt		marker of proliferation Ki-67							237.0	227.0	230.0					10																	129906274		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906274T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3830A>G	10.37:g.129906274T>C	ENSP00000357643:p.Asp1277Gly					MKI67_ENST00000368653.3_Missense_Mutation_p.D917G	p.D1277G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4205	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1277			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3830A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.679709	0.29783	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02974	4.09;4.09	2.46	1.24	0.21308	.	0.471419	0.15816	N	0.243223	T	0.06645	0.0170	L	0.42245	1.32	0.09310	N	1	P;P;D	0.89917	0.939;0.939;1.0	P;P;D	0.91635	0.479;0.479;0.999	T	0.35525	-0.9785	10	0.30854	T	0.27	.	3.5905	0.07986	0.1904:0.0:0.3364:0.4732	.	1276;917;1277	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	G	1277;917;1276	ENSP00000357643:D1277G;ENSP00000357642:D917G	ENSP00000357642:D917G	D	-	2	0	MKI67	129796264	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.561000	0.23515	0.332000	0.23536	0.379000	0.24179	GAT		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		61	139	0	0	0	1	0	61	139				
FAAH2	158584	broad.mit.edu	37	X	57407418	57407418	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:57407418T>G	ENST00000374900.4	+	7	1072	c.952T>G	c.(952-954)Tta>Gta	p.L318V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	318						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGGCTCATTTTTAATGTCCAA	0.294										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(952-954)Tta>Gta		fatty acid amide hydrolase 2							64.0	65.0	65.0					X																	57407418		2202	4293	6495	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57407418T>G	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.952T>G	X.37:g.57407418T>G	ENSP00000364035:p.Leu318Val	HNSCC(52;0.14)					p.L318V	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			7	1072	+			318					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.952T>G	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	T	9.516	1.107099	0.20714	.	.	ENSG00000165591	ENST00000374900	T	0.54479	0.57	1.73	1.73	0.24493	Amidase signature domain (2);	0.514986	0.17318	U	0.178604	T	0.48768	0.1518	M	0.69358	2.11	0.31588	N	0.65426	B	0.25719	0.132	B	0.33196	0.159	T	0.54302	-0.8314	10	0.49607	T	0.09	.	5.4949	0.16797	0.0:0.0:0.0:1.0	.	318	Q6GMR7	FAAH2_HUMAN	V	318	ENSP00000364035:L318V	ENSP00000364035:L318V	L	+	1	2	FAAH2	57424143	0.855000	0.29742	0.903000	0.35520	0.720000	0.41350	0.939000	0.28978	0.649000	0.30751	0.437000	0.28790	TTA		0.294	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		34	47	0	0	0	1	0	34	47				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	79	0	0	0	1	0	5	79				
FRG1B	284802	broad.mit.edu	37	20	29631559	29631559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:29631559G>T	ENST00000278882.3	+	7	735	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E119*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	119										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGCTGAAAAAGAAACCAAGAA	0.333																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(355-357)Gaa>Taa																																						SO:0001587	stop_gained	0							g.chr20:29631559G>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.355G>T	20.37:g.29631559G>T	ENSP00000278882:p.Glu119*					FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E119*	p.E119*							7	735	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.355G>T		.	.	.	.	.	.	.	.	.	.	g	23.3	4.396804	0.83120	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	2.03	2.03	0.26663	.	0.103133	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	10.1417	0.42738	0.0:0.0:1.0:0.0	.	.	.	.	X	119	.	ENSP00000278882:E119X	E	+	1	0	FRG1B	28245220	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	5.353000	0.66034	1.456000	0.47831	0.499000	0.49734	GAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	28	1	0	3.07112e-06	1	3.42433e-06	11	28				
DNAH10	196385	broad.mit.edu	37	12	124371784	124371784	+	Silent	SNP	G	G	A	rs533242201		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124371784G>A	ENST00000409039.3	+	51	8590	c.8565G>A	c.(8563-8565)gcG>gcA	p.A2855A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2855	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAACAAAGCGATGATCTTTC	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19796	0.0		0.0	False		,,,				2504	0.0					ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(8563-8565)gcG>gcA		dynein, axonemal, heavy chain 10							63.0	65.0	65.0					12																	124371784		1972	4160	6132	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124371784G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8565G>A	12.37:g.124371784G>A							p.A2855A	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	51	8590	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2855			AAA 4 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.8565G>A	CCDS9255.2																																																																																				0.542	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			8	26	0	0	0	1	0	8	26				
RCC2	55920	broad.mit.edu	37	1	17740182	17740182	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17740182G>T	ENST00000375436.4	-	9	1245	c.1058C>A	c.(1057-1059)tCc>tAc	p.S353Y	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Missense_Mutation_p.S353Y	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	353					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AAAGCCCCAGGAGAAGACTCG	0.577																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(1057-1059)tCc>tAc		regulator of chromosome condensation 2							61.0	69.0	66.0					1																	17740182		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17740182G>T		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1058C>A	1.37:g.17740182G>T	ENSP00000364585:p.Ser353Tyr					AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Missense_Mutation_p.S353Y	p.S353Y	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	9	1245	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	353					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.1058C>A	CCDS181.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736198	0.89482	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.87809	-2.3;-2.3	5.3	5.3	0.74995	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.097854	0.64402	D	0.000001	D	0.94978	0.8375	M	0.91972	3.26	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95761	0.8800	10	0.87932	D	0	-30.1277	17.8814	0.88841	0.0:0.0:1.0:0.0	.	353	Q9P258	RCC2_HUMAN	Y	353	ENSP00000364585:S353Y;ENSP00000364582:S353Y	ENSP00000364582:S353Y	S	-	2	0	RCC2	17612769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.274000	0.72587	2.630000	0.89119	0.655000	0.94253	TCC		0.577	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		10	121	1	0	4.68919e-08	1	5.48405e-08	10	121				
SIRT1	23411	broad.mit.edu	37	10	69672420	69672420	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69672420G>A	ENST00000212015.6	+	8	1600	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	SIRT1_ENST00000406900.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000432464.1_Missense_Mutation_p.R221Q|SIRT1_ENST00000403579.1_Missense_Mutation_p.R213Q	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	516	Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R516Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AAACCTCCACGAACACAAAAA	0.388																																						ENST00000212015.6																			1	Substitution - Missense(1)	p.R516Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1546-1548)cGa>cAa		sirtuin 1							75.0	75.0	75.0					10																	69672420		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69672420G>A	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1547G>A	10.37:g.69672420G>A	ENSP00000212015:p.Arg516Gln					SIRT1_ENST00000406900.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000403579.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000432464.1_Missense_Mutation_p.R221Q	p.R516Q	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			8	1600	+			516					Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.1547G>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448975	0.96205	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.27402	2.16;1.7;1.67;1.67	5.68	5.68	0.88126	.	0.305199	0.28521	N	0.015055	T	0.38931	0.1059	L	0.37697	1.125	0.80722	D	1	D;D	0.67145	0.988;0.996	P;P	0.52957	0.629;0.714	T	0.02345	-1.1173	10	0.32370	T	0.25	-7.8462	19.4062	0.94648	0.0:0.0:1.0:0.0	.	213;516	B0QZ35;Q96EB6	.;SIRT1_HUMAN	Q	516;221;213;213	ENSP00000212015:R516Q;ENSP00000409208:R221Q;ENSP00000384508:R213Q;ENSP00000384063:R213Q	ENSP00000212015:R516Q	R	+	2	0	SIRT1	69342426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.187000	0.94912	2.695000	0.91970	0.650000	0.86243	CGA		0.388	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			25	48	0	0	0	1	0	25	48				
ZFP91	80829	broad.mit.edu	37	11	58384868	58384868	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58384868G>A	ENST00000316059.6	+	11	1573	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	468					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAATGCAGGCGCCCTCATCAC	0.537																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1402-1404)Gcc>Acc		ZFP91 zinc finger protein							55.0	50.0	52.0					11																	58384868		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384868G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1402G>A	11.37:g.58384868G>A	ENSP00000339030:p.Ala468Thr					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			11	1573	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	468					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1402G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337103	0.81801	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.12774	2.65	6.16	6.16	0.99307	.	0.221703	0.38897	N	0.001522	T	0.24890	0.0604	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.62298	0.9;0.89	T	0.00575	-1.1663	10	0.23891	T	0.37	-9.8508	19.6313	0.95704	0.0:0.0:1.0:0.0	.	468;468	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	T	468	ENSP00000339030:A468T	ENSP00000374569:A468T	A	+	1	0	ZFP91	58141444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.937000	0.99478	0.650000	0.86243	GCC		0.537	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		20	25	0	0	0	1	0	20	25				
DNAH7	56171	broad.mit.edu	37	2	196825183	196825183	+	Nonsense_Mutation	SNP	C	C	A	rs376917562		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196825183C>A	ENST00000312428.6	-	18	2792	c.2692G>T	c.(2692-2694)Gaa>Taa	p.E898*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	898	Stem. {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						AGAGAATATTCTTTGCTAGCT	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.(2692-2694)Gaa>Taa		dynein, axonemal, heavy chain 7							121.0	118.0	119.0					2																	196825183		1872	4109	5981	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825183C>A	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.2692G>T	2.37:g.196825183C>A	ENSP00000311273:p.Glu898*						p.E898*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2792	-			898			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.2692G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	39	7.450699	0.98292	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7123	0.96100	0.0:1.0:0.0:0.0	.	.	.	.	X	898	.	ENSP00000311273:E898X	E	-	1	0	DNAH7	196533428	1.000000	0.71417	0.910000	0.35882	0.352000	0.29268	4.076000	0.57591	2.661000	0.90470	0.585000	0.79938	GAA		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		33	77	1	0	4.74835e-14	1	6.14782e-14	33	77				
CASP8AP2	9994	broad.mit.edu	37	6	90578240	90578240	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:90578240C>A	ENST00000551025.1	+	0	6668									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACACAAGATGCTTCAAGTGAG	0.393																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							96.0	88.0	90.0					6																	90578240		1912	4135	6047			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90578240C>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578240C>A										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	6668	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.393	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		11	21	1	0	1.58986e-06	1	1.78832e-06	11	21				
ERCC6L	54821	broad.mit.edu	37	X	71425104	71425104	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71425104C>A	ENST00000334463.3	-	2	3648	c.3513G>T	c.(3511-3513)gaG>gaT	p.E1171D	ERCC6L_ENST00000373657.1_Missense_Mutation_p.E1048D|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1171					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CAAGAGAGGTCTCTTGAGCTA	0.488																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(3142-3144)gaG>gaT		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							95.0	84.0	88.0					X																	71425104		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425104C>A	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3513G>T	X.37:g.71425104C>A	ENSP00000334675:p.Glu1171Asp					PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.E1171D	p.E1048D			Q2NKX8	ERC6L_HUMAN			3	3746	-	Renal(35;0.156)		1171					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.3144G>T	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.751128	0.31046	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91894	-2.9;-2.93	5.49	-1.15	0.09709	.	.	.	.	.	T	0.80265	0.4591	N	0.14661	0.345	0.09310	N	1	B	0.22276	0.067	B	0.19946	0.027	T	0.65763	-0.6089	9	0.22109	T	0.4	-0.5645	4.0698	0.09877	0.2571:0.3305:0.0:0.4124	.	1171	Q2NKX8	ERC6L_HUMAN	D	1048;1171	ENSP00000362761:E1048D;ENSP00000334675:E1171D	ENSP00000334675:E1171D	E	-	3	2	ERCC6L	71341829	0.670000	0.27512	0.000000	0.03702	0.218000	0.24690	0.251000	0.18257	-0.110000	0.12022	-0.268000	0.10319	GAG		0.488	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		34	41	1	0	4.3181e-19	1	5.86915e-19	34	41				
AGO2	27161	broad.mit.edu	37	8	141545600	141545600	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:141545600G>A	ENST00000220592.5	-	17	2350	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	AGO2_ENST00000519980.1_Intron	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	746	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										GGTAGAAGTCGAACTCGGTGG	0.562																																						ENST00000220592.5																			0											c.(2236-2238)ttC>ttT		argonaute RISC catalytic component 2							264.0	197.0	220.0					8																	141545600		2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141545600G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2238C>T	8.37:g.141545600G>A						AGO2_ENST00000519980.1_Intron	p.F746F	NM_012154.3	NP_036286.2					17	2350	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.2238C>T	CCDS6380.1																																																																																				0.562	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			7	88	0	0	0	1	0	7	88				
CACUL1	143384	broad.mit.edu	37	10	120450802	120450802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120450802C>A	ENST00000369151.3	-	7	1483	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	334					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										TGTATAAGTTCTCTTTGAAAT	0.388																																						ENST00000369151.3																			0											c.(1000-1002)Gaa>Taa		CDK2-associated, cullin domain 1							136.0	139.0	138.0					10																	120450802		1815	4082	5897	SO:0001587	stop_gained	143384							g.chr10:120450802C>A	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.1000G>T	10.37:g.120450802C>A	ENSP00000358147:p.Glu334*					CACUL1_ENST00000544392.1_5'UTR	p.E334*	NM_153810.4	NP_722517.3					7	1483	-								Q5XPL7|Q8IY11|Q8N7S4	Nonsense_Mutation	SNP	ENST00000369151.3	37	c.1000G>T	CCDS41570.1	.	.	.	.	.	.	.	.	.	.	C	44	10.700541	0.99452	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151	.	.	.	5.97	5.97	0.96955	.	0.049835	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.8429	20.4324	0.99085	0.0:1.0:0.0:0.0	.	.	.	.	X	145;211;334	.	ENSP00000358147:E334X	E	-	1	0	C10orf46	120440792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.749000	0.74883	2.833000	0.97629	0.585000	0.79938	GAA		0.388	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		51	122	1	0	9.22156e-22	1	1.27685e-21	51	122				
KCTD3	51133	broad.mit.edu	37	1	215751415	215751415	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215751415C>T	ENST00000259154.4	+	6	682	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	130					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGGTTACTTGCCCCCACCAGG	0.343																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(388-390)Ccc>Tcc		potassium channel tetramerization domain containing 3							149.0	143.0	145.0					1																	215751415		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215751415C>T	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.388C>T	1.37:g.215751415C>T	ENSP00000259154:p.Pro130Ser						p.P130S	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	6	682	+			130					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.388C>T	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.662007|4.662007	0.88251|0.88251	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000448333|ENST00000259154;ENST00000366945	.|T	.|0.39229	.|1.09	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63189|0.63189	0.2490|0.2490	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;P	.|0.71674	.|0.998;0.609	.|D;B	.|0.72625	.|0.978;0.342	T|T	0.59836|0.59836	-0.7379|-0.7379	5|10	.|0.48119	.|T	.|0.1	-26.4731|-26.4731	20.0591|20.0591	0.97667|0.97667	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|130;130	.|Q9Y597-2;Q9Y597	.|.;KCTD3_HUMAN	V|S	102|130	.|ENSP00000259154:P130S	.|ENSP00000259154:P130S	A|P	+|+	2|1	0|0	KCTD3|KCTD3	213818038|213818038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	7.433000|7.433000	0.80362|0.80362	2.739000|2.739000	0.93911|0.93911	0.491000|0.491000	0.48974|0.48974	GCC|CCC		0.343	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		8	60	0	0	0	1	0	8	60				
LILRB1	10859	broad.mit.edu	37	19	55144057	55144057	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55144057C>T	ENST00000396331.1	+	7	1161	c.804C>T	c.(802-804)ctC>ctT	p.L268L	LILRB1_ENST00000396315.1_Silent_p.L268L|LILRB1_ENST00000434867.2_Silent_p.L268L|LILRB1_ENST00000418536.2_Silent_p.L268L|LILRB1_ENST00000396327.3_Silent_p.L268L|LILRB1_ENST00000448689.1_Silent_p.L268L|LILRB1_ENST00000324602.7_Silent_p.L268L|LILRB1_ENST00000427581.2_Silent_p.L304L|LILRB1_ENST00000396321.2_Silent_p.L268L|LILRB1_ENST00000396332.4_Silent_p.L268L|LILRB1_ENST00000396317.1_Silent_p.L268L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	268	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCTTCAGCTCGCTGGCGCAC	0.612										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(802-804)ctC>ctT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							87.0	90.0	89.0					19																	55144057		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144057C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.804C>T	19.37:g.55144057C>T		HNSCC(37;0.09)				LILRB1_ENST00000396321.2_Silent_p.L268L|LILRB1_ENST00000434867.2_Silent_p.L268L|LILRB1_ENST00000427581.2_Silent_p.L304L|LILRB1_ENST00000418536.2_Silent_p.L268L|LILRB1_ENST00000396317.1_Silent_p.L268L|LILRB1_ENST00000324602.7_Silent_p.L268L|LILRB1_ENST00000396332.4_Silent_p.L268L|LILRB1_ENST00000448689.1_Silent_p.L268L|LILRB1_ENST00000396315.1_Silent_p.L268L|LILRB1_ENST00000396327.3_Silent_p.L268L	p.L268L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1161	+			268			Ig-like C2-type 3.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.804C>T	CCDS42617.1																																																																																				0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			36	77	0	0	0	1	0	36	77				
MCHR2	84539	broad.mit.edu	37	6	100403957	100403957	+	Nonsense_Mutation	SNP	C	C	A	rs201596484		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100403957C>A	ENST00000281806.2	-	2	381	c.67G>T	c.(67-69)Gag>Tag	p.E23*	MCHR2_ENST00000369212.2_Nonsense_Mutation_p.E23*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TAAGCAAACTCTTTATTCCAG	0.423																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(67-69)Gag>Tag		melanin-concentrating hormone receptor 2							144.0	141.0	142.0					6																	100403957		2203	4300	6503	SO:0001587	stop_gained	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100403957C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.67G>T	6.37:g.100403957C>A	ENSP00000281806:p.Glu23*					MCHR2_ENST00000369212.1_Nonsense_Mutation_p.E23*|MCHR2_ENST00000445970.1_Nonsense_Mutation_p.E23*	p.E23*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	381	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	23					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Nonsense_Mutation	SNP	ENST00000281806.2	37	c.67G>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888990	0.52014	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	.	.	.	4.86	3.99	0.46301	.	0.270973	0.25526	N	0.030063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	7.5041	0.27534	0.0:0.8027:0.0:0.1973	.	.	.	.	X	23	.	ENSP00000281806:E23X	E	-	1	0	MCHR2	100510678	0.857000	0.29778	0.851000	0.33527	0.054000	0.15201	0.803000	0.27083	1.156000	0.42514	0.561000	0.74099	GAG		0.423	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		31	69	1	0	3.11337e-16	1	4.1367e-16	31	69				
CDH10	1008	broad.mit.edu	37	5	24535873	24535873	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:24535873G>A	ENST00000264463.4	-	4	1092	c.585C>T	c.(583-585)agC>agT	p.S195S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S195R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGACTCTGGCGCTGTTCCCAT	0.453										HNSCC(23;0.051)																												ENST00000264463.4																			1	Substitution - Missense(1)	p.S195R(1)	lung(1)	NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(583-585)agC>agT		cadherin 10, type 2 (T2-cadherin)							136.0	123.0	127.0					5																	24535873		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535873G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.585C>T	5.37:g.24535873G>A		HNSCC(23;0.051)					p.S195S	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	1092	-			195			Cadherin 2.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.585C>T	CCDS3892.1																																																																																				0.453	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		16	24	0	0	0	1	0	16	24				
GPR88	54112	broad.mit.edu	37	1	101004646	101004646	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101004646G>A	ENST00000315033.4	+	2	563	c.124G>A	c.(124-126)Gcc>Acc	p.A42T		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	42					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TTCGGGCCTGGCCATCGGGGG	0.657																																						ENST00000315033.4																			0				large_intestine(2)|skin(1)	3						c.(124-126)Gcc>Acc		G protein-coupled receptor 88							40.0	34.0	36.0					1																	101004646		2201	4299	6500	SO:0001583	missense	54112					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:101004646G>A	AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"""GPCR / Class A : Orphans"""	4539	protein-coding gene	gene with protein product		607468	"""G-protein coupled receptor 88"", ""G protein coupled receptor 88"""				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.124G>A	1.37:g.101004646G>A	ENSP00000314223:p.Ala42Thr						p.A42T	NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)	2	563	+		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)	42					Q29S24|Q6VN48	Missense_Mutation	SNP	ENST00000315033.4	37	c.124G>A	CCDS772.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885868	0.72410	.	.	ENSG00000181656	ENST00000315033	T	0.37915	1.17	4.61	4.61	0.57282	.	0.146333	0.30210	U	0.010149	T	0.25121	0.0610	N	0.14661	0.345	0.33897	D	0.638044	D	0.61697	0.99	P	0.60068	0.868	T	0.04885	-1.0920	10	0.23302	T	0.38	-9.9921	15.7965	0.78416	0.0:0.0:1.0:0.0	.	42	Q9GZN0	GPR88_HUMAN	T	42	ENSP00000314223:A42T	ENSP00000314223:A42T	A	+	1	0	GPR88	100777234	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.165000	0.50778	2.388000	0.81334	0.563000	0.77884	GCC		0.657	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030212.1	NM_022049		5	12	0	0	0	1	0	5	12				
AMOT	154796	broad.mit.edu	37	X	112022529	112022529	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:112022529G>A	ENST00000524145.1	-	11	2927	c.2853C>T	c.(2851-2853)gcC>gcT	p.A951A	AMOT_ENST00000371962.1_Silent_p.A719A|AMOT_ENST00000371959.3_Silent_p.A951A|AMOT_ENST00000304758.1_Silent_p.A542A|MIR4329_ENST00000582643.1_RNA			Q4VCS5	AMOT_HUMAN	angiomotin	951					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						aggcaacagaggcagcagctg	0.637																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2851-2853)gcC>gcT		angiomotin							16.0	13.0	14.0					X																	112022529		2128	4173	6301	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022529G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2853C>T	X.37:g.112022529G>A						AMOT_ENST00000371962.1_Silent_p.A719A|AMOT_ENST00000524145.1_Silent_p.A951A|AMOT_ENST00000304758.1_Silent_p.A542A	p.A951A	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			10	2852	-			951					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.2853C>T	CCDS48154.1																																																																																				0.637	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		3	12	0	0	0	1	0	3	12				
KCTD19	146212	broad.mit.edu	37	16	67329205	67329205	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67329205A>G	ENST00000304372.5	-	9	1407	c.1352T>C	c.(1351-1353)tTc>tCc	p.F451S		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	451	BTB 2.				protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AAGTCTCAGGAAGTTGAGAAT	0.478																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1351-1353)tTc>tCc		potassium channel tetramerization domain containing 19							76.0	70.0	72.0					16																	67329205		1952	4143	6095	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67329205A>G	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1352T>C	16.37:g.67329205A>G	ENSP00000305702:p.Phe451Ser						p.F451S	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	9	1407	-		Ovarian(137;0.192)	451			BTB 2.		B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1352T>C	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327897	0.81690	.	.	ENSG00000168676	ENST00000304372	T	0.58506	0.33	5.5	5.5	0.81552	BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.78155	0.4239	M	0.87456	2.885	0.39154	D	0.962282	D	0.76494	0.999	D	0.75484	0.986	D	0.83514	0.0082	10	0.87932	D	0	-19.9329	12.9874	0.58599	1.0:0.0:0.0:0.0	.	451	Q17RG1	KCD19_HUMAN	S	451	ENSP00000305702:F451S	ENSP00000305702:F451S	F	-	2	0	KCTD19	65886706	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.064000	0.71169	2.102000	0.63906	0.533000	0.62120	TTC		0.478	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		19	23	0	0	0	1	0	19	23				
TRAM1	23471	broad.mit.edu	37	8	71495556	71495556	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:71495556G>T	ENST00000262213.2	-	10	1063	c.894C>A	c.(892-894)atC>atA	p.I298I	TRAM1_ENST00000536748.1_Silent_p.I267I|TRAM1_ENST00000521049.1_5'Flank|TRAM1_ENST00000521425.1_Silent_p.I212I	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	298	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CCAGAACAGCGATTCTAAGAA	0.348																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.(634-636)atC>atA		translocation associated membrane protein 1							60.0	55.0	57.0					8																	71495556		2203	4300	6503	SO:0001819	synonymous_variant	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71495556G>T	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.894C>A	8.37:g.71495556G>T						TRAM1_ENST00000262213.2_Silent_p.I298I|TRAM1_ENST00000536748.1_Silent_p.I267I	p.I212I			Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		10	1672	-			298			TLC.		B4E0K2	Silent	SNP	ENST00000262213.2	37	c.636C>A	CCDS6207.1																																																																																				0.348	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		8	16	1	0	0.000274275	1	0.000292037	8	16				
PDE4DIP	9659	broad.mit.edu	37	1	144879545	144879545	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:144879545C>T	ENST00000369354.3	-	27	4094	c.3905G>A	c.(3904-3906)aGc>aAc	p.S1302N	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1302N|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1258N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1438N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1438N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1302					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCTTGAGGCTGTTGTGCTC	0.527			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4312-4314)aGc>aAc		phosphodiesterase 4D interacting protein							61.0	65.0	64.0					1																	144879545		2203	4295	6498	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879545C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3905G>A	1.37:g.144879545C>T	ENSP00000358360:p.Ser1302Asn					PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1302N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1302N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1258N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1438N	p.S1438N			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4351	-			1302					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4313G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	2.888	-0.230223	0.05983	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01705	4.68;4.79;4.79;4.79;4.79	5.69	1.33	0.21861	.	.	.	.	.	T	0.00412	0.0013	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.003;0.004	T	0.43734	-0.9373	9	0.17369	T	0.5	.	3.6139	0.08070	0.2089:0.4023:0.0:0.3888	.	1258;1302	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	N	1258;1302;1302;1438;1438	ENSP00000327209:S1258N;ENSP00000358360:S1302N;ENSP00000358363:S1302N;ENSP00000435654:S1438N;ENSP00000358366:S1438N	ENSP00000327209:S1258N	S	-	2	0	PDE4DIP	143590902	0.877000	0.30153	0.017000	0.16124	0.161000	0.22273	0.810000	0.27183	0.333000	0.23563	0.655000	0.94253	AGC		0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		10	86	0	0	0	1	0	10	86				
BTBD11	121551	broad.mit.edu	37	12	108004065	108004065	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108004065G>A	ENST00000280758.5	+	5	2270	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	BTBD11_ENST00000490090.2_Missense_Mutation_p.R581Q|BTBD11_ENST00000357167.4_Missense_Mutation_p.R118Q|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.R581Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	581						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AACTGTGGACGAACAGACCTG	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1741-1743)cGa>cAa		BTB (POZ) domain containing 11							150.0	131.0	137.0					12																	108004065		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108004065G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1742G>A	12.37:g.108004065G>A	ENSP00000280758:p.Arg581Gln		OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.R118Q|BTBD11_ENST00000490090.2_Missense_Mutation_p.R581Q|BTBD11_ENST00000420571.2_Missense_Mutation_p.R581Q	p.R581Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			5	2270	+			581					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1742G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359144	0.95854	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943;ENST00000357167	T;T;T;T;T;T	0.64260	0.66;-0.09;0.66;0.27;0.35;0.66	5.65	5.65	0.86999	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	L	0.35542	1.07	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.97110	0.99;0.994;0.994;1.0	T	0.74873	-0.3516	10	0.72032	D	0.01	.	19.7056	0.96070	0.0:0.0:1.0:0.0	.	581;118;581;581	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	Q	581;581;581;212;215;118	ENSP00000280758:R581Q;ENSP00000413889:R581Q;ENSP00000447319:R581Q;ENSP00000447606:R212Q;ENSP00000407416:R215Q;ENSP00000349690:R118Q	ENSP00000280758:R581Q	R	+	2	0	BTBD11	106528195	1.000000	0.71417	0.950000	0.38849	0.699000	0.40488	9.808000	0.99193	2.659000	0.90383	0.462000	0.41574	CGA		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		37	85	0	0	0	1	0	37	85				
MYH2	4620	broad.mit.edu	37	17	10441078	10441078	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10441078G>A	ENST00000245503.5	-	15	1875	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	MYH2_ENST00000532183.2_Silent_p.F497F|MYH2_ENST00000397183.2_Silent_p.F497F|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	497	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCCAGCACGAACATGTGGT	0.478																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1489-1491)ttC>ttT		myosin, heavy chain 2, skeletal muscle, adult							152.0	132.0	139.0					17																	10441078		2203	4297	6500	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10441078G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1491C>T	17.37:g.10441078G>A						MYH2_ENST00000532183.1_Silent_p.F497F|MYH2_ENST00000397183.2_Silent_p.F497F|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.F497F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			15	1875	-			497			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.1491C>T	CCDS11156.1																																																																																				0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		52	106	0	0	0	1	0	52	106				
NCAPD3	23310	broad.mit.edu	37	11	134073715	134073715	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134073715C>T	ENST00000534548.2	-	11	1366	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	434					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACTTCTGATGCTCCAAGGAGA	0.468																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1300-1302)gaG>gaA		non-SMC condensin II complex, subunit D3							92.0	95.0	94.0					11																	134073715		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134073715C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1302G>A	11.37:g.134073715C>T							p.E434E	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	11	1366	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	434					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.1302G>A	CCDS31723.1																																																																																				0.468	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		17	80	0	0	0	1	0	17	80				
BCHE	590	broad.mit.edu	37	3	165547360	165547360	+	Missense_Mutation	SNP	C	C	T	rs200998515		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:165547360C>T	ENST00000264381.3	-	2	1628	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	488			E -> K (in BChE deficiency). {ECO:0000269|PubMed:12881446}.		cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAAATTTCCTCGGCTTTTGTG	0.403																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55	GRCh37	CM034212	BCHE	M		c.(1462-1464)Gag>Aag		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						79.0	85.0	83.0					3																	165547360		2203	4299	6502	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547360C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1462G>A	3.37:g.165547360C>T	ENSP00000264381:p.Glu488Lys					BCHE_ENST00000540653.1_Intron	p.E488K	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1628	-			488		E -> K (in BChE deficiency).			A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1462G>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852801	0.71719	.	.	ENSG00000114200	ENST00000264381	D	0.96300	-3.97	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.98670	0.9554	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99632	1.0986	10	0.87932	D	0	.	18.4281	0.90615	0.0:1.0:0.0:0.0	.	488	P06276	CHLE_HUMAN	K	488	ENSP00000264381:E488K	ENSP00000264381:E488K	E	-	1	0	BCHE	167030054	1.000000	0.71417	0.980000	0.43619	0.544000	0.35116	7.354000	0.79424	2.605000	0.88082	0.591000	0.81541	GAG		0.403	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			27	43	0	0	0	1	0	27	43				
FOXP2	93986	broad.mit.edu	37	7	114282503	114282503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:114282503G>T	ENST00000393494.2	+	7	1093	c.814G>T	c.(814-816)Gaa>Taa	p.E272*	FOXP2_ENST00000393489.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.E251*|FOXP2_ENST00000378237.3_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393500.3_Nonsense_Mutation_p.E197*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.E297*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.E296*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.E289*			O15409	FOXP2_HUMAN	forkhead box P2	272					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GTTATGGAAAGAAGTGACTGG	0.408																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(589-591)Gaa>Taa		forkhead box P2							145.0	135.0	138.0					7																	114282503		2203	4300	6503	SO:0001587	stop_gained	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114282503G>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.814G>T	7.37:g.114282503G>T	ENSP00000377132:p.Glu272*					FOXP2_ENST00000393491.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.E272*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.E289*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.E296*|FOXP2_ENST00000378237.3_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.E297*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.E251*	p.E197*			O15409	FOXP2_HUMAN			13	1409	+			272			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Nonsense_Mutation	SNP	ENST00000393494.2	37	c.589G>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808152	0.90707	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000393495;ENST00000390668;ENST00000393491	.	.	.	4.86	4.86	0.63082	.	0.135777	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.3604	0.90372	0.0:0.0:1.0:0.0	.	.	.	.	X	197;272;297;289;272;249;272;180;272;129;296;180	.	ENSP00000265436:E272X	E	+	1	0	FOXP2	114069739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.416000	0.97383	2.410000	0.81850	0.460000	0.39030	GAA		0.408	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		23	32	1	0	8.04996e-18	1	1.08523e-17	23	32				
GDF2	2658	broad.mit.edu	37	10	48413860	48413860	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48413860G>A	ENST00000249598.1	-	2	1167	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	336					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.F336F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607																																						ENST00000249598.1																			1	Substitution - coding silent(1)	p.F336F(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(1006-1008)ttC>ttT		growth differentiation factor 2							72.0	71.0	72.0					10																	48413860		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413860G>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.1008C>T	10.37:g.48413860G>A							p.F336F	NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN			2	1167	-			336					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.1008C>T	CCDS7219.1																																																																																				0.607	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		28	62	0	0	0	1	0	28	62				
RFPL3	10738	broad.mit.edu	37	22	32754065	32754065	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32754065A>C	ENST00000249007.4	+	1	212	c.7A>C	c.(7-9)Agg>Cgg	p.R3R	RFPL3_ENST00000382088.3_5'Flank|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Intron	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	3							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATGCATGAAAAGGTTGTCACT	0.483																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(7-9)Agg>Cgg		ret finger protein-like 3							101.0	103.0	102.0					22																	32754065		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754065A>C	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.7A>C	22.37:g.32754065A>C						RFPL3_ENST00000397468.1_Intron	p.R3R	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			1	212	+			3					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.7A>C	CCDS43011.1																																																																																				0.483	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		29	64	0	0	0	1	0	29	64				
TRANK1	9881	broad.mit.edu	37	3	36874612	36874612	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36874612T>G	ENST00000429976.2	-	21	6577	c.6330A>C	c.(6328-6330)aaA>aaC	p.K2110N	TRANK1_ENST00000428977.2_Missense_Mutation_p.K1560N|TRANK1_ENST00000301807.6_Missense_Mutation_p.K1560N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2110							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAAAATGATCTTTTGTTTTTT	0.418																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6328-6330)aaA>aaC		tetratricopeptide repeat and ankyrin repeat containing 1							72.0	65.0	67.0					3																	36874612		1832	4091	5923	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874612T>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6330A>C	3.37:g.36874612T>G	ENSP00000416168:p.Lys2110Asn					TRANK1_ENST00000428977.2_Missense_Mutation_p.K1560N|TRANK1_ENST00000301807.6_Missense_Mutation_p.K1560N	p.K2110N			O15050	TRNK1_HUMAN			21	6577	-			2110					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6330A>C	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	7.185	0.590341	0.13812	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.36699	1.24;1.67;1.24	4.49	2.03	0.26663	.	0.000000	0.53938	D	0.000043	T	0.21921	0.0528	L	0.32530	0.975	0.30552	N	0.765398	B	0.06786	0.001	B	0.06405	0.002	T	0.10337	-1.0634	10	0.49607	T	0.09	.	3.0041	0.06023	0.1408:0.0812:0.1463:0.6317	.	2110	O15050	TRNK1_HUMAN	N	1560;2110;1560	ENSP00000416826:K1560N;ENSP00000416168:K2110N;ENSP00000301807:K1560N	ENSP00000301807:K1560N	K	-	3	2	TRANK1	36849616	1.000000	0.71417	0.910000	0.35882	0.593000	0.36681	1.067000	0.30616	0.332000	0.23536	0.369000	0.22263	AAA		0.418	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		4	8	0	0	0	1	0	4	8				
YES1	7525	broad.mit.edu	37	18	736808	736808	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:736808C>T	ENST00000584307.1	-	10	1461	c.1291G>A	c.(1291-1293)Ggt>Agt	p.G431S	RP11-769O8.3_ENST00000581712.1_RNA|RP11-769O8.2_ENST00000579595.1_RNA|YES1_ENST00000577961.1_Splice_Site_p.G436S|YES1_ENST00000314574.4_Splice_Site_p.G431S|RP11-769O8.1_ENST00000583314.1_RNA			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	431	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GTAATTTTACCTTGTCTTGCT	0.343																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.e10+1		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						97.0	84.0	88.0					18																	736808		2202	4298	6500	SO:0001630	splice_region_variant	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:736808C>T	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1291+1G>A	18.37:g.736808C>T						RP11-769O8.1_ENST00000583314.1_RNA|YES1_ENST00000577961.1_Splice_Site_p.G436_splice|YES1_ENST00000314574.4_Splice_Site_p.G431_splice	p.G431_splice			P07947	YES_HUMAN			10	1461	-			431			Protein kinase.		A6NLB3|D3DUH1	Splice_Site	SNP	ENST00000584307.1	37	c.1291_splice	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349962	0.95830	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.82167	-1.58	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	L	0.41906	1.305	0.80722	D	1	P	0.35821	0.523	B	0.41332	0.354	T	0.77998	-0.2376	9	.	.	.	.	19.0227	0.92921	0.0:1.0:0.0:0.0	.	431	P07947	YES_HUMAN	S	431	ENSP00000324740:G431S	.	G	-	1	0	YES1	726808	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.713000	0.84693	2.570000	0.86706	0.650000	0.86243	GGT		0.343	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433	Missense_Mutation	5	27	0	0	0	1	0	5	27				
ALDH6A1	4329	broad.mit.edu	37	14	74539002	74539002	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74539002A>C	ENST00000553458.1	-	4	350	c.252T>G	c.(250-252)gcT>gcG	p.A84A	ALDH6A1_ENST00000350259.4_Silent_p.A84A|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	84					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		GTTTGCAGGAAGCAATGGCTG	0.483																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(250-252)gcT>gcG		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						79.0	70.0	73.0					14																	74539002		2203	4300	6503	SO:0001819	synonymous_variant	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74539002A>C	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.252T>G	14.37:g.74539002A>C						AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Silent_p.A84A|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000556852.1_5'UTR	p.A84A	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	4	350	-			84					B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	ENST00000553458.1	37	c.252T>G	CCDS9826.1																																																																																				0.483	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			26	44	0	0	0	1	0	26	44				
FRS2	10818	broad.mit.edu	37	12	69968311	69968311	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69968311A>T	ENST00000550389.1	+	7	1349	c.1103A>T	c.(1102-1104)gAa>gTa	p.E368V	FRS2_ENST00000397997.2_Missense_Mutation_p.E368V|FRS2_ENST00000299293.2_Missense_Mutation_p.E368V|FRS2_ENST00000549921.1_Missense_Mutation_p.E368V	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	368					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGTAGGGATGAAGATGACAAT	0.383																																						ENST00000299293.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1102-1104)gAa>gTa		fibroblast growth factor receptor substrate 2							74.0	70.0	72.0					12																	69968311		1883	4118	6001	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968311A>T	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1103A>T	12.37:g.69968311A>T	ENSP00000447241:p.Glu368Val					FRS2_ENST00000397997.2_Missense_Mutation_p.E368V|FRS2_ENST00000550389.1_Missense_Mutation_p.E368V|FRS2_ENST00000549921.1_Missense_Mutation_p.E368V	p.E368V	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1613	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		368					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1103A>T	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.116655	0.37339	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	6.14	5.01	0.66863	.	0.289638	0.39407	N	0.001376	T	0.24122	0.0584	L	0.38175	1.15	0.49915	D	0.99983	P	0.52316	0.952	P	0.45998	0.5	T	0.01053	-1.1467	9	.	.	.	-19.0134	11.8232	0.52252	0.9326:0.0:0.0674:0.0	.	368	Q8WU20	FRS2_HUMAN	V	368	ENSP00000299293:E368V;ENSP00000450048:E368V;ENSP00000447241:E368V;ENSP00000381083:E368V	.	E	+	2	0	FRS2	68254578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.917000	0.75782	2.367000	0.80283	0.529000	0.55759	GAA		0.383	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		35	56	0	0	0	1	0	35	56				
CDK6	1021	broad.mit.edu	37	7	92462505	92462505	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92462505C>T	ENST00000265734.4	-	2	544	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Missense_Mutation_p.V45M	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGCACCCGCACGCGCTTCAAC	0.662			T	MLLT10	ALL																																	ENST00000265734.4				Dom	yes		7	7q21-q22	1021	T	cyclin-dependent kinase 6			L	MLLT10		ALL		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(133-135)Gtg>Atg		cyclin-dependent kinase 6							31.0	25.0	27.0					7																	92462505		2202	4300	6502	SO:0001583	missense	1021				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:92462505C>T		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.133G>A	7.37:g.92462505C>T	ENSP00000265734:p.Val45Met					CDK6_ENST00000424848.2_Missense_Mutation_p.V45M	p.V45M	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		2	544	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		45			Protein kinase.		A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	c.133G>A	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791770	0.50102	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.68331	-0.32;-0.32	5.96	4.14	0.48551	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055699	0.64402	D	0.000001	T	0.67277	0.2876	N	0.17379	0.485	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.71457	-0.4587	10	0.87932	D	0	.	10.8242	0.46622	0.1323:0.8006:0.0:0.0672	.	45	Q00534	CDK6_HUMAN	M	45	ENSP00000265734:V45M;ENSP00000397087:V45M	ENSP00000265734:V45M	V	-	1	0	CDK6	92300441	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	6.004000	0.70709	1.512000	0.48834	-0.188000	0.12872	GTG		0.662	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			6	13	0	0	0	1	0	6	13				
RYR3	6263	broad.mit.edu	37	15	33954392	33954392	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33954392T>G	ENST00000389232.4	+	35	4731	c.4661T>G	c.(4660-4662)cTg>cGg	p.L1554R	RYR3_ENST00000415757.3_Missense_Mutation_p.L1554R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1554	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGGAGGACCTGATGCGGTTC	0.612																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4660-4662)cTg>cGg		ryanodine receptor 3							38.0	39.0	38.0					15																	33954392		2081	4218	6299	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954392T>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4661T>G	15.37:g.33954392T>G	ENSP00000373884:p.Leu1554Arg					RYR3_ENST00000415757.3_Missense_Mutation_p.L1554R	p.L1554R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	4731	+		all_lung(180;7.18e-09)	1554			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4661T>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210850	0.58343	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98329	-4.87;-4.87	5.09	5.09	0.68999	.	0.089782	0.45606	D	0.000343	D	0.98909	0.9630	M	0.86343	2.81	0.58432	D	0.999999	D;D	0.76494	0.999;0.992	D;D	0.67725	0.951;0.953	D	0.99723	1.1010	10	0.87932	D	0	.	15.1057	0.72319	0.0:0.0:0.0:1.0	.	1554;1554	Q15413-2;Q15413	.;RYR3_HUMAN	R	1554	ENSP00000373884:L1554R;ENSP00000399610:L1554R	ENSP00000354735:L1554R	L	+	2	0	RYR3	31741684	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.825000	0.86693	2.157000	0.67596	0.524000	0.50904	CTG		0.612	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	11	0	0	0	1	0	6	11				
LAMA4	3910	broad.mit.edu	37	6	112476055	112476055	+	Missense_Mutation	SNP	G	G	T	rs369776441		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112476055G>T	ENST00000230538.7	-	16	2451	c.2054C>A	c.(2053-2055)tCt>tAt	p.S685Y	LAMA4_ENST00000389463.4_Missense_Mutation_p.S678Y|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.S678Y|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.S678Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	685	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATATTTACTAGACTCTGCCTT	0.383																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2053-2055)tCt>tAt		laminin, alpha 4							186.0	182.0	183.0					6																	112476055		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112476055G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2054C>A	6.37:g.112476055G>T	ENSP00000230538:p.Ser685Tyr					RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.S678Y|LAMA4_ENST00000424408.2_Missense_Mutation_p.S678Y|LAMA4_ENST00000522006.1_Missense_Mutation_p.S678Y|RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA	p.S685Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	16	2451	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	685			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2054C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591408	0.46214	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.13901	2.56;2.55;2.55;2.55	5.44	4.57	0.56435	.	0.420777	0.28082	N	0.016661	T	0.03959	0.0111	N	0.21448	0.665	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.16041	-1.0416	10	0.51188	T	0.08	.	9.8717	0.41177	0.0738:0.0:0.787:0.1391	.	685;678	Q16363;Q16363-2	LAMA4_HUMAN;.	Y	685;678;678;678	ENSP00000230538:S685Y;ENSP00000429488:S678Y;ENSP00000374114:S678Y;ENSP00000416470:S678Y	ENSP00000230538:S685Y	S	-	2	0	LAMA4	112582748	0.998000	0.40836	0.713000	0.30519	0.974000	0.67602	4.290000	0.59019	1.535000	0.49220	0.591000	0.81541	TCT		0.383	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	38	1	0	5.01169e-05	1	5.45927e-05	17	38				
ZNF511	118472	broad.mit.edu	37	10	135125331	135125331	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135125331G>A	ENST00000359035.3	+	5	669	c.666G>A	c.(664-666)cgG>cgA	p.R222R	TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000361518.5_Silent_p.R222R|TUBGCP2_ENST00000368563.2_5'Flank|ZNF511_ENST00000463816.2_3'UTR|TUBGCP2_ENST00000470829.1_5'Flank|ZNF511_ENST00000368554.4_Silent_p.R157R			Q8NB15	ZN511_HUMAN	zinc finger protein 511	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GTGAGAGGCGGATCTACAGAC	0.597																																						ENST00000359035.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(664-666)cgG>cgA		zinc finger protein 511							74.0	77.0	76.0					10																	135125331		2203	4300	6503	SO:0001819	synonymous_variant	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135125331G>A	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.666G>A	10.37:g.135125331G>A						ZNF511_ENST00000361518.5_Silent_p.R222R|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Silent_p.R157R	p.R222R			Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	5	669	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	222					A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	ENST00000359035.3	37	c.666G>A																																																																																					0.597	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		32	84	0	0	0	1	0	32	84				
ZNF385D	79750	broad.mit.edu	37	3	21552454	21552454	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:21552454G>A	ENST00000281523.2	-	4	856	c.338C>T	c.(337-339)gCc>gTc	p.A113V	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	113						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTTTCATGGCTTCCAGTGC	0.463																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(337-339)gCc>gTc		zinc finger protein 385D							300.0	244.0	263.0					3																	21552454		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21552454G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.338C>T	3.37:g.21552454G>A	ENSP00000281523:p.Ala113Val					ZNF385D_ENST00000494118.1_5'UTR	p.A113V	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			4	856	-			113						Missense_Mutation	SNP	ENST00000281523.2	37	c.338C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285053	0.95517	.	.	ENSG00000151789	ENST00000281523	T	0.43688	0.94	5.56	5.56	0.83823	.	0.128110	0.52532	D	0.000069	T	0.37544	0.1007	L	0.34521	1.04	0.47621	D	0.999477	B	0.26635	0.155	B	0.23716	0.048	T	0.13764	-1.0497	10	0.51188	T	0.08	-10.09	19.5451	0.95291	0.0:0.0:1.0:0.0	.	113	Q9H6B1	Z385D_HUMAN	V	113	ENSP00000281523:A113V	ENSP00000281523:A113V	A	-	2	0	ZNF385D	21527458	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.664000	0.98607	2.617000	0.88574	0.645000	0.84053	GCC		0.463	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		31	53	0	0	0	1	0	31	53				
CETP	1071	broad.mit.edu	37	16	57009049	57009049	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57009049G>A	ENST00000566128.1	+	10	1039	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	CETP_ENST00000200676.3_Missense_Mutation_p.E323K|CETP_ENST00000379780.2_Missense_Mutation_p.E263K					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CACCAACCAGGAAATCTTCCA	0.527																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(967-969)Gaa>Aaa		cholesteryl ester transfer protein, plasma							88.0	86.0	87.0					16																	57009049		2198	4300	6498	SO:0001583	missense	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57009049G>A	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.772G>A	16.37:g.57009049G>A	ENSP00000456276:p.Glu258Lys					CETP_ENST00000379780.2_Missense_Mutation_p.E263K|CETP_ENST00000566128.1_Missense_Mutation_p.E258K	p.E323K	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			10	1097	+			323						Missense_Mutation	SNP	ENST00000566128.1	37	c.967G>A		.	.	.	.	.	.	.	.	.	.	G	13.07	2.126953	0.37533	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.09163	3.01;3.01	3.26	3.26	0.37387	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.788844	0.11350	U	0.573100	T	0.05868	0.0153	N	0.14661	0.345	0.09310	N	0.999997	B;B	0.18741	0.03;0.0	B;B	0.18561	0.022;0.004	T	0.32955	-0.9887	10	0.05833	T	0.94	-0.7495	10.3296	0.43814	0.0:0.0:1.0:0.0	.	263;323	P11597-2;P11597	.;CETP_HUMAN	K	323;263	ENSP00000200676:E323K;ENSP00000369106:E263K	ENSP00000200676:E323K	E	+	1	0	CETP	55566550	0.090000	0.21635	0.131000	0.22000	0.684000	0.39900	3.623000	0.54224	1.515000	0.48885	0.467000	0.42956	GAA		0.527	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		24	32	0	0	0	1	0	24	32				
FSHR	2492	broad.mit.edu	37	2	49195948	49195948	+	Missense_Mutation	SNP	G	G	A	rs267599404		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:49195948G>A	ENST00000406846.2	-	9	862	c.743C>T	c.(742-744)tCg>tTg	p.S248L	FSHR_ENST00000304421.4_Missense_Mutation_p.S222L|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	248					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.S248*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GTTGTAAGTCGACCTGGCCCT	0.443									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			1	Substitution - Nonsense(1)	p.S248*(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(742-744)tCg>tTg		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						96.0	91.0	93.0					2																	49195948		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49195948G>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.743C>T	2.37:g.49195948G>A	ENSP00000384708:p.Ser248Leu					FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.S222L|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR	p.S248L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	862	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	248					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.743C>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736248	0.69189	.	.	ENSG00000170820	ENST00000406846;ENST00000304421	T;T	0.80304	-1.36;-1.36	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	M	0.87269	2.87	0.80722	D	1	P;P	0.51791	0.918;0.948	B;B	0.33799	0.17;0.155	D	0.85404	0.1133	9	.	.	.	.	18.4504	0.90702	0.0:0.0:1.0:0.0	.	222;248	Q05AH0;P23945	.;FSHR_HUMAN	L	248;222	ENSP00000384708:S248L;ENSP00000306780:S222L	.	S	-	2	0	FSHR	49049452	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	4.335000	0.59298	2.836000	0.97738	0.655000	0.94253	TCG		0.443	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			10	41	0	0	0	1	0	10	41				
ZNF461	92283	broad.mit.edu	37	19	37130011	37130011	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37130011A>C	ENST00000588268.1	-	6	1463	c.1236T>G	c.(1234-1236)ccT>ccG	p.P412P	ZNF461_ENST00000360357.4_Silent_p.P389P|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GACATTCATAAGGTTTCTTGC	0.418																																						ENST00000588268.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(1234-1236)ccT>ccG		zinc finger protein 461							85.0	93.0	90.0					19																	37130011		2174	4285	6459	SO:0001819	synonymous_variant	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130011A>C	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1236T>G	19.37:g.37130011A>C						ZNF461_ENST00000360357.4_Silent_p.P389P|ZNF461_ENST00000540605.2_5'UTR	p.P412P	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1463	-	Esophageal squamous(110;0.198)		412					A8K9W9|Q6VSF7|Q9ULZ8	Silent	SNP	ENST00000588268.1	37	c.1236T>G	CCDS54257.1																																																																																				0.418	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		32	59	0	0	0	1	0	32	59				
POU2F3	25833	broad.mit.edu	37	11	120139927	120139927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120139927C>T	ENST00000543440.2	+	3	256	c.106C>T	c.(106-108)Cga>Tga	p.R36*	POU2F3_ENST00000260264.4_Nonsense_Mutation_p.R38*	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	36					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|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)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGGAAATGATCGAAATGGCCT	0.378																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(112-114)Cga>Tga		POU class 2 homeobox 3							41.0	44.0	43.0					11																	120139927		2203	4300	6503	SO:0001587	stop_gained	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120139927C>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.106C>T	11.37:g.120139927C>T	ENSP00000441687:p.Arg36*					POU2F3_ENST00000543440.2_Nonsense_Mutation_p.R36*	p.R38*	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	3	146	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	36					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Nonsense_Mutation	SNP	ENST00000543440.2	37	c.112C>T	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	37	6.310069	0.97462	.	.	ENSG00000137709	ENST00000543440;ENST00000260264	.	.	.	4.99	4.09	0.47781	.	0.537675	0.18783	N	0.131293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.457	0.38760	0.0:0.9048:0.0:0.0952	.	.	.	.	X	38;36	.	ENSP00000260264:R36X	R	+	1	2	POU2F3	119645137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.518000	0.53451	1.338000	0.45544	0.655000	0.94253	CGA		0.378	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			5	22	0	0	0	1	0	5	22				
IL1RAPL2	26280	broad.mit.edu	37	X	104478596	104478596	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:104478596A>C	ENST00000372582.1	+	4	1207	c.451A>C	c.(451-453)Aaa>Caa	p.K151Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K151Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	151	Ig-like C2-type 2.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTATTTAGAAAAATCTGAAGT	0.418																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(451-453)Aaa>Caa		interleukin 1 receptor accessory protein-like 2							108.0	103.0	105.0					X																	104478596		2203	4299	6502	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104478596A>C	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.451A>C	X.37:g.104478596A>C	ENSP00000361663:p.Lys151Gln					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K151Q	p.K151Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			4	1207	+			151			Ig-like C2-type 2.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.451A>C	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567568	0.65651	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03717	3.83;3.83	5.24	5.24	0.73138	Immunoglobulin subtype (1);	0.000000	0.64402	D	0.000014	T	0.14960	0.0361	M	0.80028	2.48	0.80722	D	1	D	0.58970	0.984	P	0.61070	0.883	T	0.07751	-1.0756	10	0.23891	T	0.37	.	13.3514	0.60603	1.0:0.0:0.0:0.0	.	151	Q9NP60	IRPL2_HUMAN	Q	151	ENSP00000361663:K151Q;ENSP00000344976:K151Q	ENSP00000344976:K151Q	K	+	1	0	IL1RAPL2	104365252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.747000	0.51819	0.441000	0.28932	AAA		0.418	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		31	59	0	0	0	1	0	31	59				
NLRC4	58484	broad.mit.edu	37	2	32475335	32475335	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32475335G>T	ENST00000404025.2	-	5	2086	c.1598C>A	c.(1597-1599)tCt>tAt	p.S533Y	NLRC4_ENST00000402280.1_Missense_Mutation_p.S533Y|NLRC4_ENST00000360906.5_Missense_Mutation_p.S533Y|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	533					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTTTGCAAAGATTCCTGTCT	0.463																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1597-1599)tCt>tAt		NLR family, CARD domain containing 4							120.0	113.0	116.0					2																	32475335		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475335G>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1598C>A	2.37:g.32475335G>T	ENSP00000385090:p.Ser533Tyr					NLRC4_ENST00000360906.5_Missense_Mutation_p.S533Y|NLRC4_ENST00000402280.1_Missense_Mutation_p.S533Y|NLRC4_ENST00000342905.6_Intron	p.S533Y			Q9NPP4	NLRC4_HUMAN			5	2086	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		533					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.1598C>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	6.216	0.408055	0.11754	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.55234	0.53;0.53;0.53	2.82	2.82	0.32997	.	1.150840	0.06771	N	0.783555	T	0.35008	0.0917	L	0.27053	0.805	0.33202	D	0.552282	P	0.40476	0.718	B	0.33750	0.169	T	0.30621	-0.9972	9	0.37606	T	0.19	.	5.7746	0.18271	0.1467:0.0:0.8533:0.0	.	533	Q9NPP4	NLRC4_HUMAN	Y	533	ENSP00000354159:S533Y;ENSP00000385428:S533Y;ENSP00000385090:S533Y	ENSP00000354159:S533Y	S	-	2	0	NLRC4	32328839	0.804000	0.28969	0.006000	0.13384	0.004000	0.04260	1.959000	0.40412	1.923000	0.55706	0.543000	0.68304	TCT		0.463	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		26	44	1	0	8.24728e-16	1	1.09065e-15	26	44				
STK31	56164	broad.mit.edu	37	7	23811882	23811882	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23811882G>T	ENST00000355870.3	+	15	2069	c.1950G>T	c.(1948-1950)aaG>aaT	p.K650N	STK31_ENST00000428484.1_Missense_Mutation_p.K627N|STK31_ENST00000433467.2_Missense_Mutation_p.K650N|STK31_ENST00000354639.3_Missense_Mutation_p.K627N|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	650						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGTTGAAAAGAGTAATTTGG	0.323																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1879-1881)aaG>aaT		serine/threonine kinase 31							74.0	77.0	76.0					7																	23811882		2202	4292	6494	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23811882G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1950G>T	7.37:g.23811882G>T	ENSP00000348132:p.Lys650Asn					STK31_ENST00000428484.1_Missense_Mutation_p.K627N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.K650N|STK31_ENST00000355870.3_Missense_Mutation_p.K650N	p.K627N	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			15	2345	+			650					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1881G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039856	0.55003	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.74002	-0.8;0.95;-0.79;-0.79	5.19	3.37	0.38596	.	0.342731	0.31673	N	0.007257	T	0.79616	0.4476	M	0.62723	1.935	0.35101	D	0.765287	D;D	0.76494	0.999;0.999	P;P	0.60789	0.879;0.879	D	0.84106	0.0398	10	0.62326	D	0.03	-4.8209	8.6022	0.33751	0.3031:0.0:0.6969:0.0	.	650;650	B4DZ06;Q9BXU1	.;STK31_HUMAN	N	650;650;627;627	ENSP00000348132:K650N;ENSP00000411852:K650N;ENSP00000346660:K627N;ENSP00000406146:K627N	ENSP00000346660:K627N	K	+	3	2	STK31	23778407	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	0.954000	0.29175	1.199000	0.43173	-0.232000	0.12228	AAG		0.323	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		21	32	1	0	8.10497e-08	1	9.43176e-08	21	32				
KCNG1	3755	broad.mit.edu	37	20	49621311	49621311	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:49621311G>T	ENST00000371571.4	-	3	1092	c.807C>A	c.(805-807)ttC>ttA	p.F269L	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	269					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTCCACGATGAAGACGTTGT	0.657																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(805-807)ttC>ttA		potassium voltage-gated channel, subfamily G, member 1							16.0	15.0	15.0					20																	49621311		2198	4293	6491	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49621311G>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.807C>A	20.37:g.49621311G>T	ENSP00000360626:p.Phe269Leu					RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	p.F269L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1092	-			269					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.807C>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462373	0.63513	.	.	ENSG00000026559	ENST00000371571	D	0.97328	-4.34	5.0	4.05	0.47172	.	0.000000	0.85682	D	0.000000	D	0.96131	0.8739	M	0.81802	2.56	0.80722	D	1	P	0.35793	0.521	B	0.35278	0.199	D	0.95049	0.8185	9	.	.	.	.	13.9539	0.64135	0.0747:0.0:0.9253:0.0	.	269	Q9UIX4	KCNG1_HUMAN	L	269	ENSP00000360626:F269L	.	F	-	3	2	KCNG1	49054718	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.976000	0.88070	1.231000	0.43661	0.313000	0.20887	TTC		0.657	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		9	14	1	0	2.17888e-05	1	2.39107e-05	9	14				
HSP90B1	7184	broad.mit.edu	37	12	104335423	104335423	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104335423T>C	ENST00000299767.5	+	10	1429	c.1247T>C	c.(1246-1248)gTa>gCa	p.V416A		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	416					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTGCGCCGTGTATTCATCACA	0.378																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1246-1248)gTa>gCa		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						129.0	122.0	124.0					12																	104335423		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104335423T>C	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1247T>C	12.37:g.104335423T>C	ENSP00000299767:p.Val416Ala						p.V416A	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			10	1429	+			416					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1247T>C	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315427	0.81358	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.27256	1.68	5.34	5.34	0.76211	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.99881	4.885	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.86795	0.1988	10	0.87932	D	0	.	15.318	0.74095	0.0:0.0:0.0:1.0	.	416	P14625	ENPL_HUMAN	A	416;166	ENSP00000299767:V416A	ENSP00000299767:V416A	V	+	2	0	HSP90B1	102859553	1.000000	0.71417	0.237000	0.24090	0.801000	0.45260	8.040000	0.89188	1.997000	0.58415	0.533000	0.62120	GTA		0.378	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		24	49	0	0	0	1	0	24	49				
GNAS	2778	broad.mit.edu	37	20	57428651	57428651	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:57428651T>G	ENST00000371100.4	+	1	883	c.331T>G	c.(331-333)Ttg>Gtg	p.L111V	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371102.4_Missense_Mutation_p.L111V|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.A47A|GNAS_ENST00000371099.2_Missense_Mutation_p.L111V	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACAGCCCAGCTTGGGAGGCTT	0.622			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(331-333)Ttg>Gtg		GNAS complex locus							32.0	36.0	35.0					20																	57428651		1940	4123	6063	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428651T>G	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.331T>G	20.37:g.57428651T>G	ENSP00000360141:p.Leu111Val	TSP Lung(22;0.16)				GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.L111V|GNAS_ENST00000371099.2_Missense_Mutation_p.L111V|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.A47A|GNAS_ENST00000464624.2_3'UTR	p.L111V	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	883	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.331T>G	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606431	0.28623	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.89746	-2.56;-2.55	4.47	-8.94	0.00768	.	.	.	.	.	T	0.75421	0.3847	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.62077	-0.6930	9	0.09590	T	0.72	.	1.9809	0.03426	0.2112:0.247:0.3903:0.1515	.	111	Q5JWF2	GNAS1_HUMAN	V	111	ENSP00000360141:L111V;ENSP00000360143:L111V	ENSP00000360140:L111V	L	+	1	2	GNAS	56862046	0.000000	0.05858	0.006000	0.13384	0.857000	0.48899	-2.164000	0.01275	-1.788000	0.01266	0.455000	0.32223	TTG		0.622	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		13	33	0	0	0	1	0	13	33				
KIAA2018	205717	broad.mit.edu	37	3	113379382	113379382	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113379382T>C	ENST00000478658.1	-	5	1164	c.1147A>G	c.(1147-1149)Acc>Gcc	p.T383A	KIAA2018_ENST00000316407.4_Missense_Mutation_p.T383A|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	383						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATAGGAATGGTGGCCTTCCCT	0.443																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(1147-1149)Acc>Gcc		KIAA2018							90.0	84.0	86.0					3																	113379382		1951	4131	6082	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113379382T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1147A>G	3.37:g.113379382T>C	ENSP00000420721:p.Thr383Ala					KIAA2018_ENST00000478658.1_Missense_Mutation_p.T383A|KIAA2018_ENST00000491165.1_Intron	p.T383A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	1557	-			383					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1147A>G	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	0.182	-1.061416	0.01950	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.14516	2.5;2.5	5.25	1.72	0.24424	.	0.804575	0.11441	N	0.563809	T	0.06554	0.0168	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44267	-0.9339	10	0.07990	T	0.79	-1.5226	7.1537	0.25624	0.0:0.3855:0.0:0.6145	.	383	Q68DE3	K2018_HUMAN	A	383	ENSP00000320794:T383A;ENSP00000420721:T383A	ENSP00000320794:T383A	T	-	1	0	KIAA2018	114862072	0.000000	0.05858	0.012000	0.15200	0.525000	0.34531	-0.038000	0.12144	0.263000	0.21812	0.528000	0.53228	ACC		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		4	60	0	0	0	1	0	4	60				
MRPL19	9801	broad.mit.edu	37	2	75882241	75882241	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:75882241A>C	ENST00000393909.2	+	6	734	c.709A>C	c.(709-711)Aat>Cat	p.N237H	MRPL19_ENST00000409374.1_Missense_Mutation_p.N237H|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	237					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						GGAACGTCCAAATTTTAATAT	0.323																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.(709-711)Aat>Cat		mitochondrial ribosomal protein L19							42.0	42.0	42.0					2																	75882241		1802	4081	5883	SO:0001583	missense	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75882241A>C	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.709A>C	2.37:g.75882241A>C	ENSP00000377486:p.Asn237His					MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Missense_Mutation_p.N237H	p.N237H	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN			6	734	+			237					Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	c.709A>C	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	A	13.36	2.212926	0.39102	.	.	ENSG00000115364	ENST00000393909;ENST00000409374;ENST00000453233	.	.	.	5.31	-7.91	0.01165	.	0.400598	0.31134	N	0.008194	T	0.16599	0.0399	L	0.36672	1.1	0.24797	N	0.992722	P	0.35923	0.528	B	0.29524	0.103	T	0.03545	-1.1026	9	0.41790	T	0.15	1.0E-4	6.8817	0.24177	0.3045:0.3118:0.0:0.3837	.	237	P49406	RM19_HUMAN	H	237;237;24	.	ENSP00000377486:N237H	N	+	1	0	MRPL19	75735749	0.028000	0.19301	0.008000	0.14137	0.775000	0.43874	0.454000	0.21827	-1.567000	0.01671	0.533000	0.62120	AAT		0.323	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		18	20	0	0	0	1	0	18	20				
SLC38A9	153129	broad.mit.edu	37	5	54931420	54931420	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54931420A>C	ENST00000396865.2	-	13	1824	c.1233T>G	c.(1231-1233)gtT>gtG	p.V411V	SLC38A9_ENST00000416547.2_Silent_p.V287V|SLC38A9_ENST00000318672.3_Silent_p.V411V|SLC38A9_ENST00000512595.1_Silent_p.V348V|SLC38A9_ENST00000539768.1_Silent_p.V411V|SLC38A9_ENST00000515629.1_Silent_p.V348V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	411					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATGAAGCAAAAACCAGGACTC	0.388																																						ENST00000539768.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(1231-1233)gtT>gtG		solute carrier family 38, member 9							107.0	101.0	103.0					5																	54931420		2203	4300	6503	SO:0001819	synonymous_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54931420A>C		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1233T>G	5.37:g.54931420A>C						SLC38A9_ENST00000396865.2_Silent_p.V411V|SLC38A9_ENST00000416547.2_Silent_p.V287V|SLC38A9_ENST00000318672.3_Silent_p.V411V|SLC38A9_ENST00000512595.1_Silent_p.V348V|SLC38A9_ENST00000515629.1_Silent_p.V348V	p.V411V			Q8NBW4	S38A9_HUMAN			11	1232	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	411					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.1233T>G	CCDS3968.1																																																																																				0.388	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		23	33	0	0	0	1	0	23	33				
HMMR	3161	broad.mit.edu	37	5	162902573	162902573	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162902573A>C	ENST00000358715.3	+	11	1196	c.1160A>C	c.(1159-1161)aAa>aCa	p.K387T	HMMR_ENST00000432118.2_Missense_Mutation_p.K301T|HMMR_ENST00000353866.3_Missense_Mutation_p.K372T|HMMR_ENST00000393915.4_Missense_Mutation_p.K388T			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	387					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GAGCTTGATAAATTACAGCAA	0.383																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(817-819)aAa>aCa		hyaluronan-mediated motility receptor (RHAMM)							90.0	94.0	92.0					5																	162902573		2203	4300	6503	SO:0001583	missense	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162902573A>C	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1160A>C	5.37:g.162902573A>C	ENSP00000351554:p.Lys387Thr					HMMR_ENST00000432118.2_Missense_Mutation_p.K301T|HMMR_ENST00000358715.3_Missense_Mutation_p.K387T|HMMR_ENST00000393915.4_Missense_Mutation_p.K388T|HMMR_ENST00000353866.3_Missense_Mutation_p.K372T	p.K273T			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	11	1315	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	387					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.818A>C	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	A	5.783	0.328857	0.10956	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.54	1.66	0.24008	.	0.703847	0.14567	N	0.311693	T	0.07773	0.0195	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.004;0.004	B;B;B;B	0.17098	0.017;0.005;0.017;0.017	T	0.34153	-0.9840	10	0.41790	T	0.15	-0.4069	3.7855	0.08698	0.5993:0.2143:0.0691:0.1173	.	301;388;372;387	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	T	273;372;388;364;301;387	ENSP00000400527:K273T;ENSP00000185942:K372T;ENSP00000377492:K388T;ENSP00000402673:K301T;ENSP00000351554:K387T	ENSP00000185942:K372T	K	+	2	0	HMMR	162835151	0.950000	0.32346	0.005000	0.12908	0.133000	0.20885	0.693000	0.25497	0.101000	0.17610	0.397000	0.26171	AAA		0.383	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		14	47	0	0	0	1	0	14	47				
CCIN	881	broad.mit.edu	37	9	36169834	36169834	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:36169834A>G	ENST00000335119.2	+	1	446	c.335A>G	c.(334-336)aAc>aGc	p.N112S		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	112	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CAGTATTTCAACACACCACGC	0.527																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(334-336)aAc>aGc		calicin							108.0	92.0	98.0					9																	36169834		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169834A>G	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.335A>G	9.37:g.36169834A>G	ENSP00000334996:p.Asn112Ser						p.N112S	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	446	+			112			BTB.		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.335A>G	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.730145	0.30684	.	.	ENSG00000185972	ENST00000335119	T	0.66815	-0.23	5.26	5.26	0.73747	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000014	T	0.53449	0.1797	L	0.33485	1.01	0.33506	D	0.590541	B	0.33826	0.427	B	0.28305	0.088	T	0.69064	-0.5244	10	0.87932	D	0	.	11.8391	0.52344	1.0:0.0:0.0:0.0	.	112	Q13939	CALI_HUMAN	S	112	ENSP00000334996:N112S	ENSP00000334996:N112S	N	+	2	0	CCIN	36159834	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.830000	0.39131	2.118000	0.64928	0.379000	0.24179	AAC		0.527	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		25	44	0	0	0	1	0	25	44				
RANBP2	5903	broad.mit.edu	37	2	109381241	109381241	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109381241G>A	ENST00000283195.6	+	20	4372	c.4246G>A	c.(4246-4248)Gaa>Aaa	p.E1416K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1416					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCCAAAGAAAGAAGGTCACTG	0.398																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(4246-4248)Gaa>Aaa		RAN binding protein 2							91.0	91.0	91.0					2																	109381241		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109381241G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4246G>A	2.37:g.109381241G>A	ENSP00000283195:p.Glu1416Lys						p.E1416K	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	4372	+			1416					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.4246G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270075	0.40194	.	.	ENSG00000153201	ENST00000283195	T	0.57595	0.39	5.48	5.48	0.80851	Zinc finger, RanBP2-type (2);	.	.	.	.	T	0.46619	0.1402	L	0.58583	1.82	0.26596	N	0.973106	B	0.16166	0.016	B	0.21546	0.035	T	0.44050	-0.9353	9	0.06757	T	0.87	-22.9645	12.3296	0.55031	0.0779:0.0:0.9221:0.0	.	1416	P49792	RBP2_HUMAN	K	1416	ENSP00000283195:E1416K	ENSP00000283195:E1416K	E	+	1	0	RANBP2	108747673	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.392000	0.59659	2.554000	0.86153	0.655000	0.94253	GAA		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		26	59	0	0	0	1	0	26	59				
UCN3	114131	broad.mit.edu	37	10	5416147	5416147	+	Missense_Mutation	SNP	C	C	T	rs377737986	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5416147C>T	ENST00000380433.3	+	2	692	c.464C>T	c.(463-465)gCg>gTg	p.A155V		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	155					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						CACCTGATGGCGCAAATTGGG	0.677																																						ENST00000380433.3																			0				endometrium(1)|large_intestine(1)	2						c.(463-465)gCg>gTg		urocortin 3		C	VAL/ALA	1,4405		0,1,2202	24.0	27.0	26.0		464	5.6	1.0	10		26	1,8593		0,1,4296	no	missense	UCN3	NM_053049.2	64	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	155/162	5416147	2,12998	2203	4297	6500	SO:0001583	missense	114131					extracellular region	hormone activity	g.chr10:5416147C>T	AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"""Endogenous ligands"""	17781	protein-coding gene	gene with protein product	"""stresscopin"", ""prepro-urocortin 3"""	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.464C>T	10.37:g.5416147C>T	ENSP00000369798:p.Ala155Val						p.A155V	NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN			2	692	+			155					Q496H2|Q5SR91	Missense_Mutation	SNP	ENST00000380433.3	37	c.464C>T	CCDS7065.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236755	0.79800	2.27E-4	1.16E-4	ENSG00000178473	ENST00000380433	T	0.58797	0.31	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.76343	0.3974	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78229	-0.2285	10	0.87932	D	0	-11.0888	18.1747	0.89758	0.0:1.0:0.0:0.0	.	155	Q969E3	UCN3_HUMAN	V	155	ENSP00000369798:A155V	ENSP00000369798:A155V	A	+	2	0	UCN3	5406147	1.000000	0.71417	0.977000	0.42913	0.096000	0.18686	7.231000	0.78106	2.653000	0.90120	0.491000	0.48974	GCG		0.677	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		7	24	0	0	0	1	0	7	24				
CDH22	64405	broad.mit.edu	37	20	44803550	44803550	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44803550G>A	ENST00000372262.3	-	11	2482	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	CDH22_ENST00000537909.1_Silent_p.F694F	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	694					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGAGCTCGCCGAAGTCGTAGA	0.731																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(2080-2082)ttC>ttT		cadherin 22, type 2							13.0	14.0	14.0					20																	44803550		1976	4083	6059	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44803550G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.2082C>T	20.37:g.44803550G>A						CDH22_ENST00000537909.1_Silent_p.F694F	p.F694F	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			11	2482	-		Myeloproliferative disorder(115;0.0122)	694					B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.2082C>T	CCDS13395.1																																																																																				0.731	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		3	17	0	0	0	1	0	3	17				
RPL34	6164	broad.mit.edu	37	4	109543322	109543322	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:109543322A>C	ENST00000394668.2	+	3	193	c.127A>C	c.(127-129)Aaa>Caa	p.K43Q	RPL34_ENST00000394667.3_Missense_Mutation_p.K43Q|RPL34_ENST00000394665.1_Missense_Mutation_p.K43Q|RPL34-AS1_ENST00000507248.1_lincRNA|RPL34_ENST00000506397.1_Missense_Mutation_p.K43Q|RPL34_ENST00000502534.1_Missense_Mutation_p.K43Q	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	43					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		GAAAGCACCAAAATCTGCATG	0.448																																						ENST00000394668.2																			0				kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(127-129)Aaa>Caa		ribosomal protein L34							68.0	69.0	69.0					4																	109543322		2203	4299	6502	SO:0001583	missense	6164				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr4:109543322A>C	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"""L ribosomal proteins"""	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.127A>C	4.37:g.109543322A>C	ENSP00000378163:p.Lys43Gln					RPL34_ENST00000506397.1_Missense_Mutation_p.K43Q|RPL34_ENST00000394667.3_Missense_Mutation_p.K43Q|RPL34_ENST00000502534.1_Missense_Mutation_p.K43Q|RPL34_ENST00000394665.1_Missense_Mutation_p.K43Q	p.K43Q	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000286)	3	193	+		Hepatocellular(203;0.217)	43					Q6FG66|Q9BUZ2	Missense_Mutation	SNP	ENST00000394668.2	37	c.127A>C	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913275	0.72983	.	.	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	5.22	5.22	0.72569	.	0.046506	0.85682	D	0.000000	T	0.73273	0.3566	M	0.80332	2.49	0.80722	D	1	B	0.26081	0.141	B	0.35655	0.207	T	0.75306	-0.3364	9	0.87932	D	0	.	15.077	0.72084	1.0:0.0:0.0:0.0	.	43	P49207	RL34_HUMAN	Q	43	.	ENSP00000378160:K43Q	K	+	1	0	RPL34	109762771	1.000000	0.71417	0.765000	0.31456	0.989000	0.77384	8.900000	0.92551	2.092000	0.63282	0.533000	0.62120	AAA		0.448	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	NM_033625, NM_000995		15	29	0	0	0	1	0	15	29				
SEMA6C	10500	broad.mit.edu	37	1	151108986	151108986	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151108986C>A	ENST00000341697.3	-	12	2735	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	348	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTCTGCTCCTTGAACTTGC	0.567																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1042-1044)aaG>aaT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							133.0	136.0	135.0					1																	151108986		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151108986C>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1044G>T	1.37:g.151108986C>A	ENSP00000344148:p.Lys348Asn						p.K348N			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	2735	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		348			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1044G>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735067	0.69189	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.71	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	H	0.95004	3.61	0.50171	D	0.999859	D;D;D;D	0.89917	0.997;0.996;0.997;1.0	D;D;D;D	0.87578	0.913;0.99;0.938;0.998	T	0.57510	-0.7799	10	0.72032	D	0.01	.	15.1894	0.73032	0.0:1.0:0.0:0.0	.	348;308;348;348	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	N	348;308;348;348;348	ENSP00000357910:K348N;ENSP00000357908:K308N;ENSP00000357909:K348N;ENSP00000344148:K348N	ENSP00000344148:K348N	K	-	3	2	SEMA6C	149375610	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	0.080000	0.14802	2.444000	0.82710	0.491000	0.48974	AAG		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		77	145	1	0	5.02462e-34	1	7.21672e-34	77	145				
OR5T1	390155	broad.mit.edu	37	11	56043431	56043431	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56043431T>G	ENST00000313033.2	+	1	403	c.317T>G	c.(316-318)tTt>tGt	p.F106C		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCTATTTCATTTCTTGGATGT	0.368																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(316-318)tTt>tGt		olfactory receptor, family 5, subfamily T, member 1							149.0	142.0	144.0					11																	56043431		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043431T>G	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.317T>G	11.37:g.56043431T>G	ENSP00000323612:p.Phe106Cys						p.F106C	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	403	+	Esophageal squamous(21;0.00448)		106					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.317T>G	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368665	0.42003	.	.	ENSG00000181698	ENST00000313033	T	0.00335	8.06	3.44	-0.989	0.10242	GPCR, rhodopsin-like superfamily (1);	0.628530	0.13844	N	0.358845	T	0.00815	0.0027	H	0.94582	3.555	0.09310	N	1	D	0.58970	0.984	P	0.60345	0.873	T	0.27088	-1.0084	10	0.87932	D	0	.	8.3183	0.32113	0.4423:0.0:0.0:0.5577	.	106	Q8NG75	OR5T1_HUMAN	C	106	ENSP00000323612:F106C	ENSP00000323612:F106C	F	+	2	0	OR5T1	55800007	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-1.310000	0.02725	0.046000	0.15833	0.381000	0.24937	TTT		0.368	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		55	53	0	0	0	1	0	55	53				
HTR4	3360	broad.mit.edu	37	5	147863828	147863828	+	Intron	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147863828G>T	ENST00000377888.3	-	7	1215				HTR4_ENST00000314512.6_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000360693.3_Silent_p.V397V|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Intron	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	gttaccccaagacaggcttcc	0.408																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1189-1191)gtC>gtA		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						82.0	82.0	82.0					5																	147863828		2203	4300	6503	SO:0001627	intron_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147863828G>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1077-972C>A	5.37:g.147863828G>T						HTR4_ENST00000521530.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000517929.1_Intron	p.V397V	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1329	-			359					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000377888.3	37	c.1191C>A	CCDS4291.1																																																																																				0.408	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		10	14	1	0	1.08611e-07	1	1.25818e-07	10	14				
SENP5	205564	broad.mit.edu	37	3	196650379	196650379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:196650379C>A	ENST00000323460.5	+	7	2228	c.1979C>A	c.(1978-1980)tCa>tAa	p.S660*	SENP5_ENST00000419026.1_Nonsense_Mutation_p.S150*|SENP5_ENST00000445299.2_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	660	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CGAATTATTTCATTTTATGAT	0.333																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(1978-1980)tCa>tAa		SUMO1/sentrin specific peptidase 5							144.0	139.0	141.0					3																	196650379		2202	4300	6502	SO:0001587	stop_gained	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196650379C>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1979C>A	3.37:g.196650379C>A	ENSP00000327197:p.Ser660*					SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Nonsense_Mutation_p.S150*	p.S660*	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	7	2228	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		660			Protease.		B4DY82|Q96SA5	Nonsense_Mutation	SNP	ENST00000323460.5	37	c.1979C>A	CCDS3322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.084720|9.084720	0.99061|0.99061	.|.	.|.	ENSG00000119231|ENSG00000119231	ENST00000448068|ENST00000323460;ENST00000419026	.|.	.|.	.|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.261958	.|0.38436	.|N	.|0.001690	T|.	0.36936|.	0.0985|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32025|.	-0.9922|.	3|.	.|0.02654	.|T	.|1	-0.7848|-0.7848	15.4162|15.4162	0.74970|0.74970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	N|X	31|660;150	.|.	.|ENSP00000327197:S660X	H|S	+|+	1|2	0|0	SENP5|SENP5	198134776|198134776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.856000|2.856000	0.48341|0.48341	2.305000|2.305000	0.77605|0.77605	0.555000|0.555000	0.69702|0.69702	CAT|TCA		0.333	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		12	40	1	0	2.27111e-07	1	2.60515e-07	12	40				
UNC79	57578	broad.mit.edu	37	14	94121601	94121601	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94121601T>G	ENST00000393151.2	+	39	6421	c.6421T>G	c.(6421-6423)Tta>Gta	p.L2141V	UNC79_ENST00000256339.4_Missense_Mutation_p.L1964V|UNC79_ENST00000553484.1_Missense_Mutation_p.L2163V|UNC79_ENST00000555664.1_Missense_Mutation_p.L2102V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2141					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAAAAAGAATTTACCAGCAGG	0.418																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(6487-6489)Tta>Gta		unc-79 homolog (C. elegans)							91.0	92.0	92.0					14																	94121601		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94121601T>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6421T>G	14.37:g.94121601T>G	ENSP00000376858:p.Leu2141Val					UNC79_ENST00000555664.1_Missense_Mutation_p.L2102V|UNC79_ENST00000256339.4_Missense_Mutation_p.L1964V|UNC79_ENST00000393151.2_Missense_Mutation_p.L2141V	p.L2163V			Q9P2D8	UNC79_HUMAN			40	6641	+			2141					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6487T>G		.	.	.	.	.	.	.	.	.	.	T	20.6	4.018211	0.75275	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.50188	0.1601	M	0.62723	1.935	0.44162	D	0.996967	D	0.67145	0.996	D	0.72625	0.978	T	0.52837	-0.8522	10	0.87932	D	0	-10.097	10.4357	0.44435	0.0:0.0723:0.0:0.9277	.	2163	C9JQL1	.	V	1964;2102;2163;2141;2163	ENSP00000256339:L1964V;ENSP00000450868:L2102V;ENSP00000451360:L2163V;ENSP00000376858:L2141V	ENSP00000256339:L1964V	L	+	1	2	KIAA1409	93191354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.796000	0.47869	2.216000	0.71823	0.528000	0.53228	TTA		0.418	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		34	41	0	0	0	1	0	34	41				
COL9A1	1297	broad.mit.edu	37	6	71004214	71004214	+	Nonsense_Mutation	SNP	G	G	A	rs147237457		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71004214G>A	ENST00000357250.6	-	5	510	c.352C>T	c.(352-354)Cga>Tga	p.R118*	COL9A1_ENST00000370496.3_Nonsense_Mutation_p.R118*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	118	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGTCATTCGAAACGTCGTC	0.403																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(352-354)Cga>Tga		collagen, type IX, alpha 1							123.0	128.0	126.0					6																	71004214		2203	4300	6503	SO:0001587	stop_gained	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71004214G>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.352C>T	6.37:g.71004214G>A	ENSP00000349790:p.Arg118*					COL9A1_ENST00000370496.3_Nonsense_Mutation_p.R118*	p.R118*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			5	510	-			118			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Nonsense_Mutation	SNP	ENST00000357250.6	37	c.352C>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587732	0.86851	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6327	0.95717	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000349790:R118X	R	-	1	2	COL9A1	71060935	1.000000	0.71417	0.992000	0.48379	0.133000	0.20885	7.293000	0.78740	2.701000	0.92244	0.650000	0.86243	CGA		0.403	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			34	53	0	0	0	1	0	34	53				
ICE2	79664	broad.mit.edu	37	15	60741464	60741464	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:60741464G>T	ENST00000261520.4	-	10	1936	c.1702C>A	c.(1702-1704)Ctc>Atc	p.L568I	NARG2_ENST00000439632.1_Missense_Mutation_p.L431I	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTGCTGCAGAGAACTGTATCT	0.368																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1702-1704)Ctc>Atc		NMDA receptor regulated 2							90.0	90.0	90.0					15																	60741464		2203	4300	6503	SO:0001583	missense	79664					nucleus		g.chr15:60741464G>T																												ENST00000261520.4:c.1702C>A	15.37:g.60741464G>T	ENSP00000261520:p.Leu568Ile					NARG2_ENST00000439632.1_Missense_Mutation_p.L431I	p.L568I	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			10	1936	-			568						Missense_Mutation	SNP	ENST00000261520.4	37	c.1702C>A	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	0.283	-0.984979	0.02180	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.73	-0.174	0.13319	.	1.443270	0.03732	N	0.253582	T	0.21509	0.0518	N	0.24115	0.695	0.09310	N	1	B;B	0.28128	0.001;0.201	B;B	0.24701	0.001;0.055	T	0.11690	-1.0577	9	0.21540	T	0.41	1.4559	2.6874	0.05111	0.2911:0.1261:0.4553:0.1274	.	236;568	B3KXT2;Q659A1	.;NARG2_HUMAN	I	568;431	.	ENSP00000261520:L568I	L	-	1	0	NARG2	58528756	0.180000	0.23148	0.000000	0.03702	0.001000	0.01503	1.973000	0.40550	0.060000	0.16281	-0.840000	0.03056	CTC		0.368	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			26	37	1	0	6.32553e-13	1	8.04352e-13	26	37				
WNT2B	7482	broad.mit.edu	37	1	113057506	113057506	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:113057506G>A	ENST00000369684.4	+	2	678	c.193G>A	c.(193-195)Gca>Aca	p.A65T	WNT2B_ENST00000256640.5_5'UTR|WNT2B_ENST00000478360.1_3'UTR|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.A46T	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	65					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACATTGGGGCACTGGGGGC	0.562																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(193-195)Gca>Aca		wingless-type MMTV integration site family, member 2B							84.0	80.0	82.0					1																	113057506		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113057506G>A	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.193G>A	1.37:g.113057506G>A	ENSP00000358698:p.Ala65Thr					WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000369686.4_Missense_Mutation_p.A46T|WNT2B_ENST00000256640.5_5'UTR	p.A65T	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	678	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	65					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.193G>A	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461870	0.84425	.	.	ENSG00000134245	ENST00000369686;ENST00000369684	T;T	0.76316	-1.01;-0.89	5.56	5.56	0.83823	.	0.276343	0.27586	U	0.018705	T	0.59514	0.2199	N	0.08118	0	0.80722	D	1	B;P	0.35033	0.023;0.481	B;B	0.42738	0.074;0.396	T	0.66228	-0.5976	10	0.40728	T	0.16	.	19.136	0.93428	0.0:0.0:1.0:0.0	.	65;46	Q93097;Q93097-2	WNT2B_HUMAN;.	T	46;65	ENSP00000358700:A46T;ENSP00000358698:A65T	ENSP00000358698:A65T	A	+	1	0	WNT2B	112859029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.636000	0.83301	2.614000	0.88457	0.561000	0.74099	GCA		0.562	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		38	59	0	0	0	1	0	38	59				
DOCK11	139818	broad.mit.edu	37	X	117817047	117817047	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117817047T>G	ENST00000276202.7	+	52	6032	c.5969T>G	c.(5968-5970)tTt>tGt	p.F1990C	DOCK11_ENST00000276204.6_Missense_Mutation_p.F1990C	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1990	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CACAGGAAATTTATACAAGCA	0.363																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5968-5970)tTt>tGt		dedicator of cytokinesis 11							104.0	105.0	105.0					X																	117817047		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117817047T>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5969T>G	X.37:g.117817047T>G	ENSP00000276202:p.Phe1990Cys					DOCK11_ENST00000276202.7_Missense_Mutation_p.F1990C	p.F1990C			Q5JSL3	DOC11_HUMAN			52	6043	+			1990			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5969T>G	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.016341	0.75161	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.22945	1.93;1.93	5.92	5.92	0.95590	.	0.050170	0.85682	D	0.000000	T	0.63534	0.2519	H	0.95504	3.68	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.75488	-0.3300	10	0.87932	D	0	-9.6938	14.3979	0.67022	0.0:0.0:0.0:1.0	.	1990;1990	A6NIW2;Q5JSL3	.;DOC11_HUMAN	C	1990	ENSP00000276204:F1990C;ENSP00000276202:F1990C	ENSP00000276202:F1990C	F	+	2	0	DOCK11	117701075	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.618000	0.83043	1.999000	0.58509	0.483000	0.47432	TTT		0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		53	74	0	0	0	1	0	53	74				
CLDND1	56650	broad.mit.edu	37	3	98237781	98237781	+	Missense_Mutation	SNP	C	C	A	rs141592597	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98237781C>A	ENST00000503004.1	-	3	1230	c.351G>T	c.(349-351)gaG>gaT	p.E117D	CLDND1_ENST00000394180.2_Missense_Mutation_p.E117D|CLDND1_ENST00000437922.1_Missense_Mutation_p.E140D|CLDND1_ENST00000394181.2_Missense_Mutation_p.E117D|CLDND1_ENST00000511081.1_Missense_Mutation_p.E22D|CLDND1_ENST00000502288.1_Missense_Mutation_p.E22D|CLDND1_ENST00000394185.2_Missense_Mutation_p.E117D|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000507874.1_Missense_Mutation_p.E117D|CLDND1_ENST00000510545.1_Missense_Mutation_p.E117D|CLDND1_ENST00000341181.6_Missense_Mutation_p.E117D|CLDND1_ENST00000513287.1_Missense_Mutation_p.E117D			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	117						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						CAACAAATTTCTCCATGAACT	0.388																																						ENST00000503004.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(349-351)gaG>gaT		claudin domain containing 1		C	ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU	6,4400	11.4+/-27.6	0,6,2197	87.0	82.0	84.0		351,420,351,351,66,351	4.6	1.0	3	dbSNP_134	84	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	CLDND1	NM_001040181.1,NM_001040182.1,NM_001040183.1,NM_001040199.1,NM_001040200.1,NM_019895.2	45,45,45,45,45,45	0,6,6497	AA,AC,CC		0.0,0.1362,0.0461	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	117/254,140/277,117/254,117/254,22/159,117/254	98237781	6,13000	2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98237781C>A	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.351G>T	3.37:g.98237781C>A	ENSP00000421226:p.Glu117Asp					CLDND1_ENST00000510545.1_Missense_Mutation_p.E117D|CLDND1_ENST00000394180.2_Missense_Mutation_p.E117D|CLDND1_ENST00000513287.1_Missense_Mutation_p.E117D|CLDND1_ENST00000394181.2_Missense_Mutation_p.E117D|CLDND1_ENST00000502288.1_Missense_Mutation_p.E22D|CLDND1_ENST00000511081.1_Missense_Mutation_p.E22D|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000437922.1_Missense_Mutation_p.E140D|CLDND1_ENST00000394185.2_Missense_Mutation_p.E117D|CLDND1_ENST00000341181.6_Missense_Mutation_p.E117D|CLDND1_ENST00000507874.1_Missense_Mutation_p.E117D	p.E117D			Q9NY35	CLDN1_HUMAN			3	1230	-			117					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.351G>T	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485021	0.44147	0.001362	0.0	ENSG00000080822	ENST00000502288;ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000506885;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000512147;ENST00000508902;ENST00000510541;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000503621;ENST00000508071	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.34472	1.84;1.82;1.84;1.84;1.84;1.84;1.84;1.41;1.84;1.42;1.84;1.84;1.36;1.84;1.41	5.5	4.63	0.57726	.	0.154304	0.56097	D	0.000021	T	0.37433	0.1003	M	0.62723	1.935	0.41973	D	0.990762	P;B;P;B	0.43094	0.799;0.071;0.589;0.232	B;B;B;B	0.43889	0.435;0.048;0.336;0.069	T	0.16600	-1.0397	10	0.14656	T	0.56	-0.4602	12.2128	0.54389	0.0:0.9175:0.0:0.0825	.	117;22;117;117	D6RCR8;F2Z2D9;Q9NY35;Q9NY35-2	.;.;CLDN1_HUMAN;.	D	22;117;117;140;117;70;117;117;117;117;22;117;95;117;117;2;117;2;117;117;117;117;95;117	ENSP00000340247:E117D;ENSP00000388457:E140D;ENSP00000377734:E117D;ENSP00000421226:E117D;ENSP00000377739:E117D;ENSP00000377735:E117D;ENSP00000423590:E117D;ENSP00000424669:E22D;ENSP00000426869:E117D;ENSP00000423732:E95D;ENSP00000425539:E117D;ENSP00000420913:E117D;ENSP00000427119:E2D;ENSP00000421413:E117D;ENSP00000423151:E117D	ENSP00000340247:E117D	E	-	3	2	CLDND1	99720471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.556000	0.23438	1.321000	0.45227	0.563000	0.77884	GAG		0.388	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		5	17	1	0	0.000602214	1	0.000636035	5	17				
OXCT1	5019	broad.mit.edu	37	5	41794170	41794170	+	Missense_Mutation	SNP	C	C	T	rs544345952	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41794170C>T	ENST00000196371.5	-	13	1343	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	OXCT1_ENST00000510634.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.D209N|OXCT1_ENST00000512084.1_5'UTR|OXCT1_ENST00000513081.1_5'UTR	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	395					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	ATTGTCAGATCGACGTGTCCA	0.398													c|||	5	0.000998403	0.0	0.0	5008	,	,		15718	0.0		0.0	False		,,,				2504	0.0051					ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(1183-1185)Gat>Aat		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						113.0	109.0	110.0					5																	41794170		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41794170C>T	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1183G>A	5.37:g.41794170C>T	ENSP00000196371:p.Asp395Asn					OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000510634.1_5'UTR|OXCT1_ENST00000512084.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.D209N	p.D395N	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			13	1343	-			395					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.1183G>A	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242306	0.22796	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.91631	-2.88;-2.88	5.87	-5.34	0.02705	3-oxoacid CoA-transferase, subunit B (1);	0.495914	0.23309	N	0.049582	D	0.89167	0.6638	M	0.73753	2.245	0.26863	N	0.96791	B	0.06786	0.001	B	0.08055	0.003	T	0.71328	-0.4626	10	0.23302	T	0.38	-4.8086	17.4841	0.87682	0.0:0.6568:0.0:0.3432	.	395	P55809	SCOT1_HUMAN	N	395;209	ENSP00000196371:D395N;ENSP00000425348:D209N	ENSP00000196371:D395N	D	-	1	0	OXCT1	41829927	0.450000	0.25697	0.445000	0.26908	0.333000	0.28666	0.325000	0.19628	-0.899000	0.03901	-1.106000	0.02097	GAT		0.398	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		9	81	0	0	0	1	0	9	81				
FAM199X	139231	broad.mit.edu	37	X	103411476	103411476	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103411476G>A	ENST00000493442.1	+	1	176	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	4										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CATGTCCGACGAGGCCTCGGC	0.692																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(10-12)Gag>Aag		family with sequence similarity 199, X-linked							19.0	18.0	19.0					X																	103411476		2201	4293	6494	SO:0001583	missense	139231							g.chrX:103411476G>A	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.10G>A	X.37:g.103411476G>A	ENSP00000417581:p.Glu4Lys						p.E4K	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			1	176	+			4					Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.10G>A	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258524	0.80246	.	.	ENSG00000123575	ENST00000493442	.	.	.	3.27	3.27	0.37495	.	0.486286	0.19926	N	0.102968	T	0.30386	0.0763	N	0.08118	0	0.36638	D	0.876709	P	0.47191	0.891	P	0.46049	0.502	T	0.21211	-1.0252	8	.	.	.	-11.0774	11.3403	0.49529	0.0:0.0:1.0:0.0	.	4	Q6PEV8	F199X_HUMAN	K	4	.	.	E	+	1	0	FAM199X	103298132	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	4.677000	0.61634	1.906000	0.55180	0.429000	0.28392	GAG		0.692	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		10	15	0	0	0	1	0	10	15				
OR13H1	347468	broad.mit.edu	37	X	130678387	130678387	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130678387C>A	ENST00000338616.3	+	1	438	c.340C>A	c.(340-342)Cta>Ata	p.L114I		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AGAGTGCCTCCTACTGGCTGC	0.522																																						ENST00000338616.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(340-342)Cta>Ata		olfactory receptor, family 13, subfamily H, member 1							153.0	123.0	133.0					X																	130678387		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678387C>A		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.340C>A	X.37:g.130678387C>A	ENSP00000340748:p.Leu114Ile						p.L114I	NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN			1	438	+	Acute lymphoblastic leukemia(192;0.000636)		114					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.340C>A	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608311	0.28623	.	.	ENSG00000171054	ENST00000338616	T	0.03496	3.91	4.87	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30911	U	0.008635	T	0.09642	0.0237	L	0.58583	1.82	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.12630	-1.0540	10	0.62326	D	0.03	.	2.7194	0.05196	0.2297:0.5185:0.0:0.2518	.	114	Q8NG92	O13H1_HUMAN	I	114	ENSP00000340748:L114I	ENSP00000340748:L114I	L	+	1	2	OR13H1	130506068	0.060000	0.20803	0.011000	0.14972	0.006000	0.05464	0.237000	0.17985	1.051000	0.40369	0.600000	0.82982	CTA		0.522	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			38	83	1	0	1.90571e-15	1	2.51191e-15	38	83				
MMRN1	22915	broad.mit.edu	37	4	90856726	90856726	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90856726T>G	ENST00000394980.1	+	7	2214	c.1895T>G	c.(1894-1896)aTg>aGg	p.M632R	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.M374R|MMRN1_ENST00000264790.2_Missense_Mutation_p.M632R			Q13201	MMRN1_HUMAN	multimerin 1	632					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GACAATAAGATGGACAAAATG	0.358																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(1894-1896)aTg>aGg		multimerin 1							81.0	79.0	80.0					4																	90856726		2203	4299	6502	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856726T>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1895T>G	4.37:g.90856726T>G	ENSP00000378431:p.Met632Arg					MMRN1_ENST00000508372.1_Missense_Mutation_p.M374R|MMRN1_ENST00000264790.2_Missense_Mutation_p.M632R|MMRN1_ENST00000394981.1_Intron	p.M632R			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2214	+		Hepatocellular(203;0.114)	632					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.1895T>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.015016	0.35511	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.69175	-0.06;-0.06;-0.38	5.06	5.06	0.68205	.	0.184455	0.48286	D	0.000183	T	0.72399	0.3455	M	0.62723	1.935	0.80722	D	1	D	0.62365	0.991	P	0.51016	0.656	T	0.76669	-0.2874	10	0.66056	D	0.02	.	15.5236	0.75885	0.0:0.0:0.0:1.0	.	632	Q13201	MMRN1_HUMAN	R	632;632;374	ENSP00000378431:M632R;ENSP00000264790:M632R;ENSP00000426461:M374R	ENSP00000264790:M632R	M	+	2	0	MMRN1	91075749	1.000000	0.71417	0.998000	0.56505	0.696000	0.40369	5.148000	0.64857	2.194000	0.70268	0.533000	0.62120	ATG		0.358	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		34	44	0	0	0	1	0	34	44				
FARSB	10056	broad.mit.edu	37	2	223513464	223513464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:223513464C>A	ENST00000281828.6	-	2	372	c.109G>T	c.(109-111)Gaa>Taa	p.E37*	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	37					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CATACAATTTCATCAAGCTCC	0.299																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(109-111)Gaa>Taa		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						118.0	121.0	120.0					2																	223513464		2203	4300	6503	SO:0001587	stop_gained	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223513464C>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.109G>T	2.37:g.223513464C>A	ENSP00000281828:p.Glu37*					FARSB_ENST00000536361.1_5'UTR	p.E37*	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	2	372	-		Renal(207;0.0183)	37					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Nonsense_Mutation	SNP	ENST00000281828.6	37	c.109G>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	40	8.205914	0.98704	.	.	ENSG00000116120	ENST00000281828	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-22.5952	19.3709	0.94484	0.0:1.0:0.0:0.0	.	.	.	.	X	37	.	ENSP00000281828:E37X	E	-	1	0	FARSB	223221708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.029000	0.76477	2.576000	0.86940	0.655000	0.94253	GAA		0.299	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		21	55	1	0	4.30721e-22	1	5.97715e-22	21	55				
PHIP	55023	broad.mit.edu	37	6	79657392	79657392	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:79657392A>G	ENST00000275034.4	-	36	4321	c.4154T>C	c.(4153-4155)gTc>gCc	p.V1385A	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1385	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AATAAGTCTGACATCTTTACA	0.343																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4153-4155)gTc>gCc		pleckstrin homology domain interacting protein							147.0	138.0	141.0					6																	79657392		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79657392A>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4154T>C	6.37:g.79657392A>G	ENSP00000275034:p.Val1385Ala					PHIP_ENST00000479165.1_5'UTR	p.V1385A	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	36	4321	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1385			Bromo 2.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4154T>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633147	0.87660	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.22945	1.93	5.33	5.33	0.75918	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000002	T	0.41026	0.1141	M	0.69523	2.12	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.27773	-1.0064	9	.	.	.	-5.5078	14.7772	0.69738	1.0:0.0:0.0:0.0	.	1385;1385	A7J992;Q8WWQ0	.;PHIP_HUMAN	A	1385;111	ENSP00000275034:V1385A	.	V	-	2	0	PHIP	79714111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.890000	0.92477	2.148000	0.66965	0.459000	0.35465	GTC		0.343	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			10	34	0	0	0	1	0	10	34				
CPN1	1369	broad.mit.edu	37	10	101816907	101816907	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101816907T>G	ENST00000370418.3	-	6	1125	c.874A>C	c.(874-876)Atg>Ctg	p.M292L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	292	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AAGTCTTGCATTCCTAAGGGA	0.458																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(874-876)Atg>Ctg		carboxypeptidase N, polypeptide 1							139.0	137.0	138.0					10																	101816907		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816907T>G	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.874A>C	10.37:g.101816907T>G	ENSP00000359446:p.Met292Leu						p.M292L	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1125	-		Colorectal(252;0.234)	292			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.874A>C	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797877	0.70567	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.11930	2.73;2.73	4.46	4.46	0.54185	Peptidase M14, carboxypeptidase A (2);	0.124467	0.64402	D	0.000001	T	0.20414	0.0491	M	0.81179	2.53	0.80722	D	1	B	0.33857	0.429	B	0.31751	0.135	T	0.04203	-1.0969	10	0.51188	T	0.08	-15.0331	13.8826	0.63689	0.0:0.0:0.0:1.0	.	292	P15169	CBPN_HUMAN	L	292;89	ENSP00000359446:M292L;ENSP00000410895:M89L	ENSP00000359446:M292L	M	-	1	0	CPN1	101806897	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.689000	0.84165	1.869000	0.54173	0.374000	0.22700	ATG		0.458	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		61	125	0	0	0	1	0	61	125				
CHD4	1108	broad.mit.edu	37	12	6701195	6701195	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6701195T>G	ENST00000357008.2	-	20	3140	c.2977A>C	c.(2977-2979)Aat>Cat	p.N993H	CHD4_ENST00000544484.1_Missense_Mutation_p.N990H|CHD4_ENST00000309577.6_Missense_Mutation_p.N993H|CHD4_ENST00000544040.1_Missense_Mutation_p.N986H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	993					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCTTCAAAATTTCGAGTGAGG	0.458																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2977-2979)Aat>Cat		chromodomain helicase DNA binding protein 4							148.0	146.0	147.0					12																	6701195		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701195T>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2977A>C	12.37:g.6701195T>G	ENSP00000349508:p.Asn993His					CHD4_ENST00000544040.1_Missense_Mutation_p.N986H|CHD4_ENST00000544484.1_Missense_Mutation_p.N990H|CHD4_ENST00000357008.2_Missense_Mutation_p.N993H	p.N993H			Q14839	CHD4_HUMAN			20	3140	-			993					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2977A>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533179	0.85812	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	4.59	4.59	0.56863	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96442	0.8839	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.983;0.996;0.996	D	0.97032	0.9751	10	0.87932	D	0	.	14.1276	0.65233	0.0:0.0:0.0:1.0	.	993;993;986	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	990;986;993;993;967	ENSP00000440392:N990H;ENSP00000440542:N986H;ENSP00000312419:N993H;ENSP00000349508:N993H	ENSP00000312419:N993H	N	-	1	0	CHD4	6571456	1.000000	0.71417	0.944000	0.38274	0.980000	0.70556	7.816000	0.86201	1.913000	0.55393	0.460000	0.39030	AAT		0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		36	66	0	0	0	1	0	36	66				
GPR98	84059	broad.mit.edu	37	5	89949626	89949626	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89949626A>G	ENST00000405460.2	+	20	4331	c.4235A>G	c.(4234-4236)aAg>aGg	p.K1412R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1412					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACATTGCCAAGACAACAGTC	0.378																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(4234-4236)aAg>aGg		G protein-coupled receptor 98							91.0	82.0	85.0					5																	89949626		1859	4096	5955	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89949626A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4235A>G	5.37:g.89949626A>G	ENSP00000384582:p.Lys1412Arg						p.K1412R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	20	4331	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1412					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4235A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822911	0.32237	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.02121	4.44	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.048441	0.85682	D	0.000000	T	0.01940	0.0061	N	0.12471	0.22	0.80722	D	1	B	0.32893	0.389	B	0.37451	0.25	T	0.67284	-0.5709	10	0.30078	T	0.28	.	9.9969	0.41905	0.9244:0.0:0.0756:0.0	.	1412	Q8WXG9	GPR98_HUMAN	R	1412	ENSP00000384582:K1412R	ENSP00000296619:K1412R	K	+	2	0	GPR98	89985382	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.147000	0.50639	2.089000	0.63090	0.528000	0.53228	AAG		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	16	0	0	0	1	0	3	16				
PLEK	5341	broad.mit.edu	37	2	68622924	68622924	+	Silent	SNP	G	G	A	rs149225658	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68622924G>A	ENST00000234313.7	+	9	1208	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	343	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GAGCCATCCAGATGGCCTCCC	0.537																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(1027-1029)caG>caA		pleckstrin							101.0	97.0	98.0					2																	68622924		2203	4300	6503	SO:0001819	synonymous_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68622924G>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.1029G>A	2.37:g.68622924G>A							p.Q343Q	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	9	1208	+		Ovarian(717;0.0129)	343			PH 2.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	c.1029G>A	CCDS1887.1																																																																																				0.537	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		16	41	0	0	0	1	0	16	41				
NCBP1	4686	broad.mit.edu	37	9	100418013	100418013	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100418013G>A	ENST00000375147.3	+	13	1521	c.1265G>A	c.(1264-1266)aGt>aAt	p.S422N		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	422					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATCATCTAAGTAACTTCCAG	0.343																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(1264-1266)aGt>aAt		nuclear cap binding protein subunit 1, 80kDa							132.0	126.0	128.0					9																	100418013		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100418013G>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1265G>A	9.37:g.100418013G>A	ENSP00000364289:p.Ser422Asn						p.S422N	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			13	1521	+		Acute lymphoblastic leukemia(62;0.158)	422					B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.1265G>A	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615141	0.87359	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.7	4.8	0.61643	MIF4G-like, type 1 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.079357	0.85682	N	0.000000	D	0.83760	0.5324	M	0.90650	3.135	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	D	0.87273	0.2287	9	0.66056	D	0.02	-9.4762	14.5504	0.68061	0.071:0.0:0.929:0.0	.	422	Q09161	NCBP1_HUMAN	N	422	.	ENSP00000364289:S422N	S	+	2	0	NCBP1	99457834	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.544000	0.82117	1.547000	0.49401	0.655000	0.94253	AGT		0.343	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		5	23	0	0	0	1	0	5	23				
IQCF1	132141	broad.mit.edu	37	3	51928930	51928930	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51928930A>G	ENST00000310914.5	-	4	656	c.594T>C	c.(592-594)tgT>tgC	p.C198C		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	198										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGGGAATACACTCTGTCA	0.498																																						ENST00000310914.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12						c.(592-594)tgT>tgC		IQ motif containing F1							74.0	74.0	74.0					3																	51928930		2203	4300	6503	SO:0001819	synonymous_variant	132141							g.chr3:51928930A>G	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.594T>C	3.37:g.51928930A>G							p.C198C	NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	656	-			198					Q8N711	Silent	SNP	ENST00000310914.5	37	c.594T>C	CCDS2836.1																																																																																				0.498	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		33	55	0	0	0	1	0	33	55				
LMOD3	56203	broad.mit.edu	37	3	69171469	69171469	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:69171469G>T	ENST00000420581.2	-	1	248	c.69C>A	c.(67-69)atC>atA	p.I23I	LMOD3_ENST00000475434.1_Silent_p.I23I|LMOD3_ENST00000489031.1_Silent_p.I23I	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	23						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AGTTGGCCAAGATTTCATCTT	0.403																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(67-69)atC>atA		leiomodin 3 (fetal)							55.0	53.0	53.0					3																	69171469		1855	4099	5954	SO:0001819	synonymous_variant	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69171469G>T	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.69C>A	3.37:g.69171469G>T						LMOD3_ENST00000489031.1_Silent_p.I23I|LMOD3_ENST00000475434.1_Silent_p.I23I	p.I23I	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	1	248	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	23					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Silent	SNP	ENST00000420581.2	37	c.69C>A	CCDS46862.1																																																																																				0.403	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		3	11	1	0	0.004672	1	0.00483628	3	11				
AGAP11	119385	broad.mit.edu	37	10	88768826	88768826	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88768826G>T	ENST00000444431.1	+	0	3426				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GGAAGAAGAAGAAAAGTTTAT	0.493																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							78.0	88.0	85.0					10																	88768826		2202	4299	6501			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768826G>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768826G>T						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	3426	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.493	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		65	122	1	0	4.09106e-26	1	5.77846e-26	65	122				
KIAA2026	158358	broad.mit.edu	37	9	5922560	5922560	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5922560T>G	ENST00000399933.3	-	8	3435	c.3436A>C	c.(3436-3438)Aat>Cat	p.N1146H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.N1116H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1146										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAAGAAGAATTTATATTTGTT	0.353																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(3436-3438)Aat>Cat		KIAA2026							136.0	130.0	132.0					9																	5922560		1853	4100	5953	SO:0001583	missense	158358							g.chr9:5922560T>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3436A>C	9.37:g.5922560T>G	ENSP00000382815:p.Asn1146His					KIAA2026_ENST00000381461.2_Missense_Mutation_p.N1116H	p.N1146H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	3435	-		Acute lymphoblastic leukemia(23;0.158)	1146					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.3436A>C		.	.	.	.	.	.	.	.	.	.	T	11.93	1.787115	0.31593	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.46	5.46	0.80206	.	0.000000	0.53938	D	0.000059	T	0.46268	0.1384	L	0.27053	0.805	0.09310	N	1	D	0.59767	0.986	P	0.56514	0.8	T	0.41822	-0.9487	9	0.49607	T	0.09	-3.1361	15.5284	0.75932	0.0:0.0:0.0:1.0	.	1146	Q5HYC2	K2026_HUMAN	H	1146;1116	.	ENSP00000370870:N1116H	N	-	1	0	KIAA2026	5912560	0.995000	0.38212	0.302000	0.25058	0.292000	0.27327	6.818000	0.75257	2.074000	0.62210	0.454000	0.30748	AAT		0.353	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		14	53	0	0	0	1	0	14	53				
TMIGD2	126259	broad.mit.edu	37	19	4294612	4294612	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:4294612A>G	ENST00000301272.2	-	4	559	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	TMIGD2_ENST00000595645.1_Missense_Mutation_p.F172L|TMIGD2_ENST00000600114.1_Missense_Mutation_p.F52L|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	172					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCCAGAACCAGGCACCC	0.617																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(514-516)Ttc>Ctc		transmembrane and immunoglobulin domain containing 2							119.0	142.0	134.0					19																	4294612		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4294612A>G	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.514T>C	19.37:g.4294612A>G	ENSP00000301272:p.Phe172Leu					TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Missense_Mutation_p.F52L|TMIGD2_ENST00000595645.1_Missense_Mutation_p.F172L	p.F172L	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	4	559	-			172					Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.514T>C	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	A	0.152	-1.090603	0.01858	.	.	ENSG00000167664	ENST00000301272	T	0.29397	1.57	2.94	-5.88	0.02290	.	.	.	.	.	T	0.09774	0.0240	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35624	-0.9781	9	0.02654	T	1	.	0.4316	0.00472	0.2709:0.2246:0.2976:0.2069	.	172;172	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	L	172	ENSP00000301272:F172L	ENSP00000301272:F172L	F	-	1	0	TMIGD2	4245612	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-3.665000	0.00399	-2.655000	0.00422	-1.328000	0.01277	TTC		0.617	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		117	229	0	0	0	1	0	117	229				
ARFGEF2	10564	broad.mit.edu	37	20	47649561	47649561	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47649561T>C	ENST00000371917.4	+	39	5183	c.5183T>C	c.(5182-5184)tTc>tCc	p.F1728S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1728					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CACCTCAAGTTCAAAGCACAT	0.403																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.e39-1		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							69.0	62.0	64.0					20																	47649561		2203	4300	6503	SO:0001630	splice_region_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47649561T>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.5182-1T>C	20.37:g.47649561T>C							p.F1728_splice	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		39	5183	+			1728					Q5TFT9|Q9NTS1	Splice_Site	SNP	ENST00000371917.4	37	c.5181_splice	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664439	0.88251	.	.	ENSG00000124198	ENST00000371917	T	0.64618	-0.11	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76506	0.3997	M	0.86651	2.83	0.80722	D	1	D	0.55172	0.97	P	0.52066	0.689	T	0.81998	-0.0675	10	0.87932	D	0	.	15.8894	0.79279	0.0:0.0:0.0:1.0	.	1728	Q9Y6D5	BIG2_HUMAN	S	1728	ENSP00000360985:F1728S	ENSP00000360985:F1728S	F	+	2	0	ARFGEF2	47082968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.150000	0.67090	0.533000	0.62120	TTC		0.403	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	Missense_Mutation	16	28	0	0	0	1	0	16	28				
MUC16	94025	broad.mit.edu	37	19	9089181	9089181	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9089181C>A	ENST00000397910.4	-	1	2837	c.2634G>T	c.(2632-2634)gaG>gaT	p.E878D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	878	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAACAGAAGTCTCAGGTTGAG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2632-2634)gaG>gaT		mucin 16, cell surface associated							86.0	88.0	87.0					19																	9089181		1954	4138	6092	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089181C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2634G>T	19.37:g.9089181C>A	ENSP00000381008:p.Glu878Asp						p.E878D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2837	-			878			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2634G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.146	0.025392	0.08054	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.45	0.275	0.15659	.	.	.	.	.	T	0.02455	0.0075	N	0.19112	0.55	.	.	.	D	0.53462	0.96	P	0.45406	0.479	T	0.45116	-0.9283	8	0.87932	D	0	.	4.7352	0.12984	0.3654:0.6346:0.0:0.0	.	878	B5ME49	.	D	878	ENSP00000381008:E878D	ENSP00000381008:E878D	E	-	3	2	MUC16	8950181	0.000000	0.05858	0.001000	0.08648	0.168000	0.22595	-0.082000	0.11304	0.147000	0.19030	0.205000	0.17691	GAG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	30	1	0	1.11149e-13	1	1.42822e-13	11	30				
CDC16	8881	broad.mit.edu	37	13	115030682	115030682	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:115030682G>A	ENST00000356221.3	+	17	1678	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	CDC16_ENST00000252457.5_Missense_Mutation_p.E523K|CDC16_ENST00000375310.1_Missense_Mutation_p.E430K|CDC16_ENST00000360383.3_Missense_Mutation_p.E524K|CDC16_ENST00000375308.1_Missense_Mutation_p.E430K|CDC16_ENST00000375312.3_Missense_Mutation_p.E379K|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000252458.6_Missense_Mutation_p.E379K			Q13042	CDC16_HUMAN	cell division cycle 16	524					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)		p.E523K(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TCATTGCATCGAAATGTACAT	0.333																																						ENST00000360383.3																			1	Substitution - Missense(1)	p.E523K(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1570-1572)Gaa>Aaa		cell division cycle 16							340.0	318.0	325.0					13																	115030682		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115030682G>A	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1570G>A	13.37:g.115030682G>A	ENSP00000348554:p.Glu524Lys					CDC16_ENST00000375310.1_Missense_Mutation_p.E430K|CDC16_ENST00000375308.1_Missense_Mutation_p.E430K|CDC16_ENST00000356221.3_Missense_Mutation_p.E524K|CDC16_ENST00000375312.3_Missense_Mutation_p.E379K|CDC16_ENST00000252458.6_Missense_Mutation_p.E379K|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.E523K	p.E524K	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		17	1768	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	524					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.1570G>A	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167610	0.78339	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T	0.76186	-1.0;-1.0	5.79	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	N	0.24115	0.695	0.80722	D	1	D;P;P	0.52996	0.957;0.504;0.744	P;B;B	0.50537	0.643;0.139;0.145	T	0.67507	-0.5653	9	.	.	.	-18.1377	16.2849	0.82714	0.0:0.0:0.8671:0.1329	.	472;523;524	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	K	524;379;524;430;523;430;379	ENSP00000364461:E379K;ENSP00000252458:E379K	.	E	+	1	0	CDC16	114048784	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.777000	0.75028	2.739000	0.93911	0.650000	0.86243	GAA		0.333	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		35	64	0	0	0	1	0	35	64				
CALCOCO2	10241	broad.mit.edu	37	17	46933497	46933497	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:46933497T>G	ENST00000258947.3	+	10	1057	c.956T>G	c.(955-957)aTt>aGt	p.I319S	CALCOCO2_ENST00000508679.1_Missense_Mutation_p.I247S|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.I343S|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.I340S|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.I277S	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	319					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAGAACGAAATTATATGTAAT	0.378																																						ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(955-957)aTt>aGt		calcium binding and coiled-coil domain 2							60.0	63.0	62.0					17																	46933497		2203	4300	6503	SO:0001583	missense	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46933497T>G	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.956T>G	17.37:g.46933497T>G	ENSP00000258947:p.Ile319Ser					CALCOCO2_ENST00000509507.1_Missense_Mutation_p.I340S|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.I247S|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.I343S|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.I277S	p.I319S	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN			10	1057	+			319					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	c.956T>G	CCDS11538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.749|0.749	-0.773473|-0.773473	0.02951|0.02951	.|.	.|.	ENSG00000136436|ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000513119;ENST00000416445;ENST00000508679|ENST00000507306	T;T;T;T;T;T|.	0.19806|.	2.61;2.12;2.61;2.23;2.71;2.52|.	6.09|6.09	2.44|2.44	0.29823|0.29823	.|.	1.077730|.	0.07134|.	N|.	0.846099|.	T|T	0.40546|0.40546	0.1121|0.1121	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.24043|.	0.096;0.067;0.039;0.067|.	B;B;B;B|.	0.27380|.	0.061;0.049;0.049;0.079|.	T|T	0.30679|0.30679	-0.9970|-0.9970	10|5	0.09338|.	T|.	0.73|.	0.3274|0.3274	4.4243|4.4243	0.11495|0.11495	0.3031:0.0816:0.0:0.6153|0.3031:0.0816:0.0:0.6153	.|.	277;343;340;319|.	E7ETP5;B4DP36;E9PBE5;Q13137|.	.;.;.;CACO2_HUMAN|.	S|K	319;340;343;247;277;247|32	ENSP00000258947:I319S;ENSP00000424352:I340S;ENSP00000398523:I343S;ENSP00000425090:I247S;ENSP00000406974:I277S;ENSP00000423437:I247S|.	ENSP00000258947:I319S|.	I|N	+|+	2|3	0|2	CALCOCO2|CALCOCO2	44288496|44288496	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.439000|0.439000	0.21575|0.21575	0.497000|0.497000	0.27926|0.27926	-0.274000|-0.274000	0.10170|0.10170	ATT|AAT		0.378	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		18	33	0	0	0	1	0	18	33				
GDF11	10220	broad.mit.edu	37	12	56143605	56143605	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56143605A>G	ENST00000257868.5	+	3	1200	c.1163A>G	c.(1162-1164)aAg>aGg	p.K388R		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	388					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TTCAATGACAAGCAGCAGATT	0.557																																						ENST00000257868.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(1162-1164)aAg>aGg		growth differentiation factor 11							176.0	166.0	169.0					12																	56143605		2203	4300	6503	SO:0001583	missense	0				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56143605A>G	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.1163A>G	12.37:g.56143605A>G	ENSP00000257868:p.Lys388Arg						p.K388R	NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN			3	1200	+			388					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.1163A>G	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.30|13.30	2.195139|2.195139	0.38806|0.38806	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.69926|.	-0.44|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Transforming growth factor-beta, C-terminal (3);|.	0.101413|.	0.64402|.	D|.	0.000004|.	T|T	0.41903|0.41903	0.1179|0.1179	N|N	0.13140|0.13140	0.3|0.3	0.58432|0.58432	D|D	0.999992|0.999992	B|.	0.15473|.	0.013|.	B|.	0.17098|.	0.017|.	T|T	0.33033|0.33033	-0.9884|-0.9884	10|5	0.14252|.	T|.	0.57|.	-14.5954|-14.5954	13.5105|13.5105	0.61508|0.61508	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	388|.	O95390|.	GDF11_HUMAN|.	R|G	388|361	ENSP00000257868:K388R|.	ENSP00000257868:K388R|.	K|S	+|+	2|1	0|0	GDF11|GDF11	54429872|54429872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	2.137000|2.137000	0.66172|0.66172	0.459000|0.459000	0.35465|0.35465	AAG|AGC		0.557	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			20	182	0	0	0	1	0	20	182				
KRT33B	3884	broad.mit.edu	37	17	39521451	39521451	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39521451G>A	ENST00000251646.3	-	5	901	c.852C>T	c.(850-852)atC>atT	p.I284I		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	284	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCTGCAGCTCGATCTCCAGGG	0.597																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(850-852)atC>atT		keratin 33B							107.0	97.0	100.0					17																	39521451		2193	4298	6491	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521451G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.852C>T	17.37:g.39521451G>A							p.I284I	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			5	901	-		Breast(137;0.000496)	284			Coil 2.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.852C>T	CCDS11389.1																																																																																				0.597	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		53	103	0	0	0	1	0	53	103				
AHNAK2	113146	broad.mit.edu	37	14	105411964	105411964	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105411964T>C	ENST00000333244.5	-	7	9943	c.9824A>G	c.(9823-9825)gAg>gGg	p.E3275G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3275						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)			GACGTCCACCTCCATGCTGGG	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9823-9825)gAg>gGg		AHNAK nucleoprotein 2							108.0	77.0	87.0					14																	105411964		1910	4067	5977	SO:0001583	missense	113146					nucleus		g.chr14:105411964T>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.9824A>G	14.37:g.105411964T>C	ENSP00000353114:p.Glu3275Gly					AHNAK2_ENST00000557457.1_Intron	p.E3275G	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	9943	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3275					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9824A>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	12.12	1.842651	0.32606	.	.	ENSG00000185567	ENST00000333244	T	0.01887	4.58	3.87	2.63	0.31362	.	.	.	.	.	T	0.10766	0.0263	M	0.80982	2.52	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.07635	-1.0762	9	0.34782	T	0.22	.	9.783	0.40660	0.0:0.0:0.3231:0.6769	.	3275	Q8IVF2	AHNK2_HUMAN	G	3275	ENSP00000353114:E3275G	ENSP00000353114:E3275G	E	-	2	0	AHNAK2	104483009	0.000000	0.05858	0.132000	0.22025	0.001000	0.01503	0.655000	0.24933	1.417000	0.47077	0.397000	0.26171	GAG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		98	176	0	0	0	1	0	98	176				
CUBN	8029	broad.mit.edu	37	10	16878296	16878296	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:16878296A>G	ENST00000377833.4	-	63	10183	c.10118T>C	c.(10117-10119)gTc>gCc	p.V3373A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3373	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGAAAATGACCATTGCAGT	0.398																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10117-10119)gTc>gCc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						72.0	72.0	72.0					10																	16878296		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16878296A>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10118T>C	10.37:g.16878296A>G	ENSP00000367064:p.Val3373Ala						p.V3373A	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			63	10183	-			3373			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10118T>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985876	0.74589	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.44482	0.92	5.03	3.9	0.45041	CUB (5);	0.000000	0.34178	N	0.004182	T	0.51126	0.1656	M	0.74881	2.28	0.27271	N	0.958368	D	0.53462	0.96	P	0.51266	0.664	T	0.51252	-0.8729	10	0.87932	D	0	.	9.2513	0.37557	0.9175:0.0:0.0825:0.0	.	3373	O60494	CUBN_HUMAN	A	3373;214	ENSP00000367064:V3373A	ENSP00000367064:V3373A	V	-	2	0	CUBN	16918302	0.387000	0.25188	0.002000	0.10522	0.630000	0.37929	5.340000	0.65958	0.768000	0.33290	0.459000	0.35465	GTC		0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		15	33	0	0	0	1	0	15	33				
GPR85	54329	broad.mit.edu	37	7	112724250	112724250	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:112724250T>C	ENST00000297146.3	-	3	1130	c.527A>G	c.(526-528)cAc>cGc	p.H176R	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.H176R|GPR85_ENST00000449591.1_Missense_Mutation_p.H176R|GPR85_ENST00000424100.1_Missense_Mutation_p.H176R	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	176					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GAAGGAGCGGTGTTGGAAGGT	0.483																																						ENST00000501255.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(526-528)cAc>cGc		G protein-coupled receptor 85							84.0	77.0	79.0					7																	112724250		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724250T>C	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.527A>G	7.37:g.112724250T>C	ENSP00000297146:p.His176Arg					GPR85_ENST00000424100.1_Missense_Mutation_p.H176R|GPR85_ENST00000297146.2_Missense_Mutation_p.H176R|GPR85_ENST00000449591.1_Missense_Mutation_p.H176R	p.H176R	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN			3	1150	-			176					Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.527A>G	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.976512	0.53720	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.61218	1.895	0.80722	D	1	B	0.32382	0.368	B	0.39152	0.292	T	0.31392	-0.9945	10	0.36615	T	0.2	.	15.7378	0.77859	0.0:0.0:0.0:1.0	.	176	P60893	GPR85_HUMAN	R	176	ENSP00000445808:H176R;ENSP00000297146:H176R;ENSP00000396763:H176R;ENSP00000401178:H176R	ENSP00000297146:H176R	H	-	2	0	GPR85	112511486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.185000	0.69588	0.528000	0.53228	CAC		0.483	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			20	52	0	0	0	1	0	20	52				
COCH	1690	broad.mit.edu	37	14	31354209	31354209	+	Intron	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31354209G>A	ENST00000396618.3	+	9	789				RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000460581.2_Intron|COCH_ENST00000475087.1_Intron|COCH_ENST00000382493.4_Missense_Mutation_p.S83N|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Intron	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin						defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAAAGAATGAGTAGCACTACC	0.383																																						ENST00000382493.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(247-249)aGt>aAt		cochlin							177.0	160.0	165.0					14																	31354209		876	1991	2867	SO:0001627	intron_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31354209G>A		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.733+347G>A	14.37:g.31354209G>A						COCH_ENST00000216361.4_Intron|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000396618.3_Intron|COCH_ENST00000460581.2_Intron|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Intron	p.S83N			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	3	348	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		244			LCCL.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.248G>A	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.668|8.668	0.902149|0.902149	0.17760|0.17760	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000382493|ENST00000468826	T|.	0.63580|.	-0.05|.	2.68|2.68	0.534|0.534	0.17127|0.17127	.|.	.|.	.|.	.|.	.|.	T|T	0.29620|0.29620	0.0739|0.0739	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.26292|0.26292	-1.0107|-1.0107	8|4	0.87932|.	D|.	0|.	.|.	5.775|5.775	0.18273|0.18273	0.3038:0.0:0.6962:0.0|0.3038:0.0:0.6962:0.0	.|.	83|.	E7EN67|.	.|.	N|I	83|116	ENSP00000371933:S83N|.	ENSP00000371933:S83N|.	S|V	+|+	2|1	0|0	COCH|COCH	30423960|30423960	0.000000|0.000000	0.05858|0.05858	0.020000|0.020000	0.16555|0.16555	0.034000|0.034000	0.12701|0.12701	-0.859000|-0.859000	0.04277|0.04277	-0.016000|-0.016000	0.14127|0.14127	-0.142000|-0.142000	0.14014|0.14014	AGT|GTA		0.383	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		39	69	0	0	0	1	0	39	69				
FAT4	79633	broad.mit.edu	37	4	126370783	126370783	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126370783G>A	ENST00000394329.3	+	9	8625	c.8612G>A	c.(8611-8613)aGa>aAa	p.R2871K	FAT4_ENST00000335110.5_Missense_Mutation_p.R1169K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2871	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATGCTCCAAGATTTAGCAGA	0.403																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(8611-8613)aGa>aAa		FAT atypical cadherin 4							87.0	85.0	86.0					4																	126370783		2203	4299	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370783G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8612G>A	4.37:g.126370783G>A	ENSP00000377862:p.Arg2871Lys					FAT4_ENST00000335110.5_Missense_Mutation_p.R1169K	p.R2871K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	8625	+			2871			Cadherin 27.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8612G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886589	0.51908	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01705	4.68;4.68	5.51	5.51	0.81932	Cadherin (2);Cadherin-like (1);	0.000000	0.34879	U	0.003612	T	0.04998	0.0134	N	0.25957	0.775	0.58432	D	0.999993	D;D;D	0.67145	0.99;0.989;0.996	D;D;D	0.77557	0.979;0.912;0.99	T	0.61407	-0.7069	10	0.07990	T	0.79	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	1169;2871;2871	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	K	2871;1169	ENSP00000377862:R2871K;ENSP00000335169:R1169K	ENSP00000335169:R1169K	R	+	2	0	FAT4	126590233	1.000000	0.71417	0.731000	0.30826	0.138000	0.21146	9.611000	0.98342	2.746000	0.94184	0.655000	0.94253	AGA		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		37	40	0	0	0	1	0	37	40				
ADAM30	11085	broad.mit.edu	37	1	120437706	120437706	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120437706T>C	ENST00000369400.1	-	1	1412	c.1254A>G	c.(1252-1254)acA>acG	p.T418T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	418	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GACACTCCTCTGTGGAACCAC	0.433																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1252-1254)acA>acG		ADAM metallopeptidase domain 30							179.0	169.0	172.0					1																	120437706		2203	4300	6503	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437706T>C	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1254A>G	1.37:g.120437706T>C							p.T418T	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1412	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	418			Disintegrin.		A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.1254A>G	CCDS907.1																																																																																				0.433	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		9	134	0	0	0	1	0	9	134				
FANCM	57697	broad.mit.edu	37	14	45633577	45633577	+	Missense_Mutation	SNP	C	C	T	rs146151355		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45633577C>T	ENST00000267430.5	+	10	1682	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C	FANCM_ENST00000542564.2_Missense_Mutation_p.R507C|FANCM_ENST00000556036.1_Missense_Mutation_p.R533C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	533	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAACAGTTTCGTGACGGTGG	0.363								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1597-1599)Cgt>Tgt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M		C	CYS/ARG	0,4406		0,0,2203	109.0	107.0	108.0		1597	6.0	1.0	14	dbSNP_134	108	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FANCM	NM_020937.2	180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	533/2049	45633577	4,13002	2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45633577C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1597C>T	14.37:g.45633577C>T	ENSP00000267430:p.Arg533Cys					FANCM_ENST00000556036.1_Missense_Mutation_p.R533C|FANCM_ENST00000542564.2_Missense_Mutation_p.R507C	p.R533C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			10	1682	+			533			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1597C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872323	0.91587	0.0	4.65E-4	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.77750	-1.12;-1.12;-1.12	6.04	6.04	0.98038	Helicase, C-terminal (3);	0.168401	0.52532	D	0.000073	D	0.89663	0.6780	M	0.87682	2.9	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.989	D;D;P	0.63877	0.919;0.918;0.84	D	0.90241	0.4286	10	0.87932	D	0	.	20.2347	0.98355	0.0:1.0:0.0:0.0	.	507;533;533	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	C	533;533;507	ENSP00000450596:R533C;ENSP00000267430:R533C;ENSP00000442493:R507C	ENSP00000267430:R533C	R	+	1	0	FANCM	44703327	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.645000	0.54389	2.881000	0.98747	0.650000	0.86243	CGT		0.363	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		14	24	0	0	0	1	0	14	24				
SCN3A	6328	broad.mit.edu	37	2	166020945	166020945	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166020945G>A	ENST00000360093.3	-	6	1050	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	SCN3A_ENST00000409101.3_Missense_Mutation_p.R187C|SCN3A_ENST00000283254.7_Missense_Mutation_p.R187C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	187					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGGATCACGAAGAAACGTA	0.373																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(559-561)Cgt>Tgt		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						77.0	79.0	78.0					2																	166020945		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166020945G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.559C>T	2.37:g.166020945G>A	ENSP00000353206:p.Arg187Cys					SCN3A_ENST00000409101.3_Missense_Mutation_p.R187C|SCN3A_ENST00000283254.7_Missense_Mutation_p.R187C	p.R187C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			6	1050	-			187					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.559C>T		.	.	.	.	.	.	.	.	.	.	G	18.74	3.688572	0.68271	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25	5.89	4.97	0.65823	Ion transport (1);	0.000000	0.56097	D	0.000027	D	0.99438	0.9801	H	0.97051	3.93	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;P	0.91635	0.91;0.998;0.999;0.999;0.855	D	0.98266	1.0501	10	0.87932	D	0	.	15.9281	0.79635	0.0:0.0:0.8643:0.1357	.	187;187;187;187;187	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	C	187	ENSP00000353206:R187C;ENSP00000283254:R187C;ENSP00000386726:R187C;ENSP00000403348:R187C;ENSP00000391569:R187C	ENSP00000283254:R187C	R	-	1	0	SCN3A	165729191	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.663000	0.61532	2.810000	0.96702	0.586000	0.80456	CGT		0.373	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		12	33	0	0	0	1	0	12	33				
OR52A5	390054	broad.mit.edu	37	11	5153355	5153355	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5153355C>T	ENST00000307388.1	-	1	517	c.518G>A	c.(517-519)cGa>cAa	p.R173Q		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	173					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R173Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GACTGTAGTTCGATAGTGTTT	0.448																																						ENST00000307388.1																			1	Substitution - Missense(1)	p.R173Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35						c.(517-519)cGa>cAa		olfactory receptor, family 52, subfamily A, member 5							123.0	118.0	120.0					11																	5153355		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153355C>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.518G>A	11.37:g.5153355C>T	ENSP00000303469:p.Arg173Gln						p.R173Q	NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	517	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	173						Missense_Mutation	SNP	ENST00000307388.1	37	c.518G>A	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	6.014	0.371020	0.11409	.	.	ENSG00000171944	ENST00000307388	T	0.37411	1.2	5.22	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	1.505630	0.04679	N	0.412078	T	0.28366	0.0701	L	0.33339	1.005	0.09310	N	1	B	0.29671	0.254	B	0.28232	0.087	T	0.29088	-1.0023	10	0.27785	T	0.31	.	10.5995	0.45358	0.0:0.4889:0.0:0.5111	.	173	Q9H2C5	O52A5_HUMAN	Q	173	ENSP00000303469:R173Q	ENSP00000303469:R173Q	R	-	2	0	OR52A5	5109931	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.211000	0.01226	-0.100000	0.12241	-0.136000	0.14681	CGA		0.448	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		34	76	0	0	0	1	0	34	76				
RASL11A	387496	broad.mit.edu	37	13	27847485	27847485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:27847485G>T	ENST00000241463.4	+	4	1201	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		TCTCTGCAAAGAAGTGAGCAA	0.517																																						ENST00000241463.4																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(583-585)Gaa>Taa		RAS-like, family 11, member A							64.0	61.0	62.0					13																	27847485		2203	4300	6503	SO:0001587	stop_gained	387496				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity	g.chr13:27847485G>T	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.583G>T	13.37:g.27847485G>T	ENSP00000241463:p.Glu195*					RASL11A_ENST00000480803.1_3'UTR	p.E195*	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)	4	1201	+		Lung SC(185;0.0161)	195			Small GTPase-like.			Nonsense_Mutation	SNP	ENST00000241463.4	37	c.583G>T	CCDS9321.1	.	.	.	.	.	.	.	.	.	.	G	40	8.248603	0.98724	.	.	ENSG00000122035	ENST00000241463	.	.	.	5.3	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.4304	0.75092	0.0:0.0:0.8598:0.1402	.	.	.	.	X	195	.	ENSP00000241463:E195X	E	+	1	0	RASL11A	26745485	1.000000	0.71417	0.999000	0.59377	0.750000	0.42670	7.280000	0.78610	1.329000	0.45376	0.655000	0.94253	GAA		0.517	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827		22	37	1	0	2.37509e-13	1	3.04217e-13	22	37				
MCM3AP	8888	broad.mit.edu	37	21	47674319	47674319	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47674319C>T	ENST00000397708.1	-	20	4377	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.9_ENST00000447037.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|AP001469.9_ENST00000430259.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1375K			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1375					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCACAACTCTCTGGGGACTGC	0.612																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4123-4125)Gag>Aag		minichromosome maintenance complex component 3 associated protein							87.0	78.0	81.0					21																	47674319		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47674319C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4123G>A	21.37:g.47674319C>T	ENSP00000380820:p.Glu1375Lys					MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1375K|MCM3AP-AS1_ENST00000590829.1_RNA	p.E1375K			O60318	MCM3A_HUMAN			20	4377	-	Breast(49;0.112)		1375					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4123G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	1.177	-0.639141	0.03557	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.44083	0.93;0.93	5.22	4.32	0.51571	.	0.590131	0.18952	N	0.126675	T	0.25568	0.0622	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17167	-1.0378	10	0.17832	T	0.49	-8.2105	8.0351	0.30488	0.1591:0.761:0.0:0.0799	.	1375	O60318	MCM3A_HUMAN	K	1375	ENSP00000380820:E1375K;ENSP00000291688:E1375K	ENSP00000291688:E1375K	E	-	1	0	MCM3AP	46498747	0.028000	0.19301	0.755000	0.31263	0.324000	0.28378	0.810000	0.27183	1.168000	0.42723	0.655000	0.94253	GAG		0.612	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		22	50	0	0	0	1	0	22	50				
SND1	27044	broad.mit.edu	37	7	127726997	127726997	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127726997T>C	ENST00000354725.3	+	21	2506	c.2312T>C	c.(2311-2313)gTc>gCc	p.V771A		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	771	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAGAGAGAGGTCCTGCCATCC	0.617																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2311-2313)gTc>gCc		staphylococcal nuclease and tudor domain containing 1							131.0	89.0	103.0					7																	127726997		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127726997T>C		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2312T>C	7.37:g.127726997T>C	ENSP00000346762:p.Val771Ala						p.V771A	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			21	2506	+			771			Tudor.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.2312T>C	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.338716	0.24253	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.09350	2.99	5.96	5.96	0.96718	Tudor subgroup (1);Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);Maternal tudor protein (1);Tudor domain (1);	0.273576	0.41823	D	0.000803	T	0.12092	0.0294	L	0.56340	1.77	0.37812	D	0.928073	B	0.06786	0.001	B	0.18871	0.023	T	0.14035	-1.0487	10	0.15066	T	0.55	-9.7161	12.8402	0.57797	0.0:0.0:0.0:1.0	.	771	Q7KZF4	SND1_HUMAN	A	771;761	ENSP00000346762:V771A	ENSP00000346762:V771A	V	+	2	0	SND1	127514233	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	3.626000	0.54245	2.285000	0.76669	0.533000	0.62120	GTC		0.617	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		8	81	0	0	0	1	0	8	81				
H1FX	8971	broad.mit.edu	37	3	129034193	129034193	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:129034193T>G	ENST00000333762.4	-	1	927	c.553A>C	c.(553-555)Aag>Cag	p.K185Q	H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000502789.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	185					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						TTCTTGGCCTTGCCGCCTTTG	0.706																																						ENST00000333762.4																			0				kidney(1)|ovary(1)|urinary_tract(2)	4						c.(553-555)Aag>Cag		H1 histone family, member X							14.0	17.0	16.0					3																	129034193		2199	4297	6496	SO:0001583	missense	8971				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr3:129034193T>G	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.553A>C	3.37:g.129034193T>G	ENSP00000329662:p.Lys185Gln						p.K185Q	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN			1	927	-			185						Missense_Mutation	SNP	ENST00000333762.4	37	c.553A>C	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038607	0.55003	.	.	ENSG00000184897	ENST00000333762	T	0.09350	2.99	4.44	4.44	0.53790	.	2.999750	0.03591	U	0.231858	T	0.22936	0.0554	L	0.29908	0.895	0.41313	D	0.987128	D	0.76494	0.999	D	0.66716	0.946	T	0.03587	-1.1022	10	0.21540	T	0.41	.	11.6357	0.51202	0.0:0.0:0.0:1.0	.	185	Q92522	H1X_HUMAN	Q	185	ENSP00000329662:K185Q	ENSP00000329662:K185Q	K	-	1	0	H1FX	130516883	1.000000	0.71417	0.996000	0.52242	0.580000	0.36256	3.654000	0.54453	1.629000	0.50426	0.402000	0.26972	AAG		0.706	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2	NM_006026		11	26	0	0	0	1	0	11	26				
GCSAML	148823	broad.mit.edu	37	1	247719762	247719762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247719762G>T	ENST00000366488.4	+	2	187	c.83G>T	c.(82-84)aGa>aTa	p.R28I	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_5'UTR	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	28																	GATGAGGAAAGAAAACGGTAA	0.383																																						ENST00000366488.4																			0											c.(82-84)aGa>aTa		germinal center-associated, signaling and motility-like							90.0	106.0	100.0					1																	247719762		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247719762G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.83G>T	1.37:g.247719762G>T	ENSP00000355444:p.Arg28Ile					GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000536561.1_Intron	p.R28I	NM_145278.3	NP_660321.1					2	187	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.83G>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	2.710	-0.268910	0.05716	.	.	ENSG00000169224	ENST00000526896;ENST00000366488	.	.	.	2.79	-0.348	0.12613	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	0.999998	B	0.09022	0.002	B	0.11329	0.006	T	0.20940	-1.0260	8	0.33940	T	0.23	-2.1319	2.2717	0.04092	0.3104:0.0:0.4478:0.2418	.	28	Q5JQS6	CA150_HUMAN	I	28	.	ENSP00000355444:R28I	R	+	2	0	C1orf150	245786385	0.000000	0.05858	0.002000	0.10522	0.138000	0.21146	-0.197000	0.09518	-0.065000	0.13021	-0.448000	0.05591	AGA		0.383	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		8	22	1	0	5.18039e-06	1	5.75679e-06	8	22				
SFR1	119392	broad.mit.edu	37	10	105882653	105882653	+	Intron	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105882653T>C	ENST00000369727.3	+	2	32				SFR1_ENST00000369729.3_Intron|SFR1_ENST00000463224.1_Intron|SFR1_ENST00000336358.5_Missense_Mutation_p.Y44H	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1						double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											CAATACAATATATTATTTGAT	0.289																																						ENST00000336358.5																			0											c.(130-132)Tat>Cat		SWI5-dependent recombination repair 1																																				SO:0001627	intron_variant	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105882653T>C	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.14-70T>C	10.37:g.105882653T>C						SFR1_ENST00000463224.1_Intron|SFR1_ENST00000369729.3_Intron|SFR1_ENST00000369727.3_Intron	p.Y44H			Q86XK3	SFR1_HUMAN			1	649	+			0					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	c.130T>C	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	T	2.944	-0.218252	0.06101	.	.	ENSG00000156384	ENST00000336358	T	0.52983	0.64	0.479	-0.957	0.10350	.	6.986190	0.00357	N	0.000033	T	0.49949	0.1587	.	.	.	0.09310	N	1	P	0.47106	0.89	P	0.49332	0.607	T	0.34104	-0.9842	8	0.87932	D	0	9.6673	.	.	.	.	44	Q86XK3-2	.	H	44	ENSP00000338089:Y44H	ENSP00000338089:Y44H	Y	+	1	0	SFR1	105872643	0.001000	0.12720	0.000000	0.03702	0.031000	0.12232	0.063000	0.14410	-0.695000	0.05105	0.164000	0.16699	TAT		0.289	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		6	14	0	0	0	1	0	6	14				
TMEM43	79188	broad.mit.edu	37	3	14172445	14172445	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14172445C>T	ENST00000306077.4	+	3	540	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	96					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGGCGCCTTACGGACATCCAA	0.582																																						ENST00000306077.4																			0				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						c.(286-288)Cgg>Tgg		transmembrane protein 43							88.0	79.0	82.0					3																	14172445		2203	4300	6503	SO:0001583	missense	79188					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane		g.chr3:14172445C>T	BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.286C>T	3.37:g.14172445C>T	ENSP00000303992:p.Arg96Trp						p.R96W	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN			3	540	+			96					Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	c.286C>T	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339812	0.60963	.	.	ENSG00000170876	ENST00000306077	T	0.37752	1.18	5.29	5.29	0.74685	.	0.266539	0.37530	N	0.002044	T	0.39009	0.1062	M	0.63428	1.95	0.49213	D	0.99976	B	0.27594	0.182	B	0.16722	0.016	T	0.33240	-0.9876	10	0.72032	D	0.01	-22.6386	17.7157	0.88336	0.0:1.0:0.0:0.0	.	96	Q9BTV4	TMM43_HUMAN	W	96	ENSP00000303992:R96W	ENSP00000303992:R96W	R	+	1	2	TMEM43	14147446	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.153000	0.50685	2.466000	0.83321	0.591000	0.81541	CGG		0.582	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		12	66	0	0	0	1	0	12	66				
RAB22A	57403	broad.mit.edu	37	20	56929309	56929309	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56929309T>G	ENST00000244040.3	+	6	756	c.475T>G	c.(475-477)Ttt>Gtt	p.F159V		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	159					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			AAATGAACTCTTTATAGAAAT	0.393																																						ENST00000244040.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6						c.(475-477)Ttt>Gtt		RAB22A, member RAS oncogene family							75.0	78.0	77.0					20																	56929309		2203	4300	6503	SO:0001583	missense	57403				endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr20:56929309T>G	AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"""RAB, member RAS oncogene"""	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.475T>G	20.37:g.56929309T>G	ENSP00000244040:p.Phe159Val						p.F159V	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)		6	756	+	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		159					B3KR86|E1P605|Q8TF12|Q9H4E6	Missense_Mutation	SNP	ENST00000244040.3	37	c.475T>G	CCDS33497.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589238	0.86851	.	.	ENSG00000124209	ENST00000244040	D	0.83419	-1.72	5.47	5.47	0.80525	Small GTP-binding protein domain (1);	0.047118	0.85682	D	0.000000	D	0.92906	0.7743	M	0.92077	3.27	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.94550	0.7753	10	0.87932	D	0	-13.07	15.5395	0.76031	0.0:0.0:0.0:1.0	.	159	Q9UL26	RB22A_HUMAN	V	159	ENSP00000244040:F159V	ENSP00000244040:F159V	F	+	1	0	RAB22A	56362715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.621000	0.83083	2.089000	0.63090	0.533000	0.62120	TTT		0.393	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2			10	16	0	0	0	1	0	10	16				
SUGCT	79783	broad.mit.edu	37	7	40899972	40899972	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:40899972T>C	ENST00000335693.4	+	14	1255	c.1232T>C	c.(1231-1233)cTc>cCc	p.L411P	C7orf10_ENST00000309930.5_Missense_Mutation_p.L437P|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Missense_Mutation_p.L363P	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		411					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCCCGCTGCTCGGGCAGCAC	0.567																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1309-1311)cTc>cCc		chromosome 7 open reading frame 10							99.0	109.0	106.0					7																	40899972		2097	4224	6321	SO:0001583	missense	79783						transferase activity	g.chr7:40899972T>C																												ENST00000335693.4:c.1232T>C	7.37:g.40899972T>C	ENSP00000338475:p.Leu411Pro					C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Missense_Mutation_p.L363P|C7orf10_ENST00000335693.4_Missense_Mutation_p.L411P	p.L437P	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			15	1334	+			411					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1310T>C	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.100556	0.76983	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.88818	-2.43;-1.07;-1.07	5.51	5.51	0.81932	CoA-transferase family III domain (1);	0.068307	0.56097	D	0.000028	D	0.94571	0.8251	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.77557	0.969;0.977;0.99	D	0.95283	0.8388	10	0.87932	D	0	-10.5072	15.2629	0.73637	0.0:0.0:0.0:1.0	.	363;411;400	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	P	437;363;411	ENSP00000312054:L437P;ENSP00000385222:L363P;ENSP00000338475:L411P	ENSP00000312054:L437P	L	+	2	0	C7orf10	40866497	0.999000	0.42202	0.979000	0.43373	0.893000	0.52053	3.696000	0.54757	2.081000	0.62600	0.533000	0.62120	CTC		0.567	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			43	96	0	0	0	1	0	43	96				
CDC73	79577	broad.mit.edu	37	1	193119493	193119493	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:193119493A>C	ENST00000367435.3	+	9	1072	c.888A>C	c.(886-888)gaA>gaC	p.E296D		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	296	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ACGATCAGGAAAGATTCAAAG	0.383																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(886-888)gaA>gaC		cell division cycle 73							118.0	117.0	118.0					1																	193119493		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193119493A>C	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.888A>C	1.37:g.193119493A>C	ENSP00000356405:p.Glu296Asp						p.E296D	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			9	1072	+			296					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.888A>C	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228881	0.79576	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.66460	-0.21	5.53	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.87547	2.89	0.80722	D	1	D	0.56287	0.975	P	0.54060	0.741	T	0.74061	-0.3786	10	0.48119	T	0.1	-28.8567	7.564	0.27868	0.811:0.0:0.189:0.0	.	296	Q6P1J9	CDC73_HUMAN	D	296	ENSP00000356405:E296D	ENSP00000356405:E296D	E	+	3	2	CDC73	191386116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.046000	0.49846	0.398000	0.25338	0.533000	0.62120	GAA		0.383	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		10	26	0	0	0	1	0	10	26				
BRWD3	254065	broad.mit.edu	37	X	79932179	79932179	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79932179A>G	ENST00000373275.4	-	41	5554	c.5338T>C	c.(5338-5340)Tcc>Ccc	p.S1780P	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1780					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCTGATCTGGATGTACCAAGA	0.348																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(5338-5340)Tcc>Ccc		bromodomain and WD repeat domain containing 3							69.0	59.0	62.0					X																	79932179		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932179A>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5338T>C	X.37:g.79932179A>G	ENSP00000362372:p.Ser1780Pro						p.S1780P	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	5554	-			1780					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.5338T>C	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009649	0.35415	.	.	ENSG00000165288	ENST00000373275	T	0.73897	-0.79	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	L	0.29908	0.895	0.51767	D	0.999933	D	0.65815	0.995	D	0.70487	0.969	T	0.75419	-0.3324	9	.	.	.	-4.5218	12.9298	0.58280	1.0:0.0:0.0:0.0	.	1780	Q6RI45	BRWD3_HUMAN	P	1780	ENSP00000362372:S1780P	.	S	-	1	0	BRWD3	79818835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.224000	0.89781	1.692000	0.51112	0.417000	0.27973	TCC		0.348	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		18	22	0	0	0	1	0	18	22				
ZNF271	10778	broad.mit.edu	37	18	32886813	32886813	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32886813C>A	ENST00000399070.3	+	0	1207					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						TCAGAGGATTCATACTGGAGA	0.398																																						ENST00000399070.3																			0				large_intestine(3)|lung(9)	12															63.0	64.0	64.0					18																	32886813		2203	4300	6503			0							g.chr18:32886813C>A	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886813C>A								NR_024565.1|NR_024566.1						0	1207	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	ENST00000399070.3	37																																																																																						0.398	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		13	19	1	0	0.000151284	1	0.00016287	13	19				
ABCD2	225	broad.mit.edu	37	12	40010816	40010816	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40010816A>C	ENST00000308666.3	-	2	1229	c.1094T>G	c.(1093-1095)aTc>aGc	p.I365S		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	365	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGTTGCAGTGATAATAGGTAT	0.338																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1093-1095)aTc>aGc		ATP-binding cassette, sub-family D (ALD), member 2							153.0	130.0	138.0					12																	40010816		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40010816A>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1094T>G	12.37:g.40010816A>C	ENSP00000310688:p.Ile365Ser						p.I365S	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			2	1229	-			365			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.1094T>G	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414068	0.83449	.	.	ENSG00000173208	ENST00000308666	D	0.99660	-6.32	5.2	5.2	0.72013	ABC transporter, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99477	0.9814	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	D	0.98588	1.0653	9	.	.	.	-27.5244	15.3633	0.74499	1.0:0.0:0.0:0.0	.	365	Q9UBJ2	ABCD2_HUMAN	S	365	ENSP00000310688:I365S	.	I	-	2	0	ABCD2	38297083	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.832000	0.92079	2.083000	0.62718	0.528000	0.53228	ATC		0.338	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		31	48	0	0	0	1	0	31	48				
SLITRK5	26050	broad.mit.edu	37	13	88328028	88328028	+	Missense_Mutation	SNP	C	C	T	rs376984309		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:88328028C>T	ENST00000325089.6	+	2	604	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	129					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCATGGGCTACGGGGTTTGAG	0.448																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(385-387)Cgg>Tgg		SLIT and NTRK-like family, member 5		C	TRP/ARG	0,4406		0,0,2203	97.0	99.0	98.0		385	4.2	1.0	13		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLITRK5	NM_015567.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	129/959	88328028	1,13005	2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328028C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.385C>T	13.37:g.88328028C>T	ENSP00000366283:p.Arg129Trp					SLITRK5_ENST00000400028.3_Intron	p.R129W	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	604	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		129					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.385C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127974	0.37533	0.0	1.16E-4	ENSG00000165300	ENST00000325089	T	0.53423	0.62	5.94	4.19	0.49359	.	0.227351	0.38548	N	0.001653	T	0.67144	0.2862	M	0.80746	2.51	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	T	0.69495	-0.5130	9	.	.	.	-14.0817	13.6225	0.62144	0.2812:0.7188:0.0:0.0	.	129	O94991	SLIK5_HUMAN	W	129	ENSP00000366283:R129W	.	R	+	1	2	SLITRK5	87126029	0.982000	0.34865	0.997000	0.53966	0.483000	0.33249	1.747000	0.38298	0.811000	0.34303	0.561000	0.74099	CGG		0.448	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			45	78	0	0	0	1	0	45	78				
CRISP1	167	broad.mit.edu	37	6	49803104	49803104	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:49803104A>G	ENST00000335847.4	-	8	776	c.675T>C	c.(673-675)caT>caC	p.H225H	CRISP1_ENST00000505118.1_Silent_p.H225H|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000355791.2_Silent_p.H225H|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000507853.1_3'UTR	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	225	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					ATCCCAGATAATGGACTTGTA	0.363																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(673-675)caT>caC		cysteine-rich secretory protein 1							189.0	176.0	180.0					6																	49803104		2203	4300	6503	SO:0001819	synonymous_variant	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49803104A>G	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.675T>C	6.37:g.49803104A>G						CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000355791.2_Silent_p.H225H|CRISP1_ENST00000505118.1_Silent_p.H225H|CRISP1_ENST00000507853.1_3'UTR	p.H225H	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			8	776	-	Lung NSC(77;0.0358)		225					B5BU98|O00698|Q13248|Q14082|Q96SF6	Silent	SNP	ENST00000335847.4	37	c.675T>C	CCDS4931.1																																																																																				0.363	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		6	88	0	0	0	1	0	6	88				
ZIK1	284307	broad.mit.edu	37	19	58101659	58101659	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58101659C>A	ENST00000597850.1	+	4	695	c.480C>A	c.(478-480)ttC>ttA	p.F160L	ZIK1_ENST00000599456.1_Missense_Mutation_p.F105L|ZIK1_ENST00000536878.2_Missense_Mutation_p.F147L|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTGCCTATTCTGTATGTCAT	0.493																																						ENST00000597850.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(478-480)ttC>ttA		zinc finger protein interacting with K protein 1							86.0	75.0	79.0					19																	58101659		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101659C>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.480C>A	19.37:g.58101659C>A	ENSP00000472867:p.Phe160Leu					ZIK1_ENST00000599456.1_Missense_Mutation_p.F105L|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.F147L	p.F160L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	695	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	160					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.480C>A	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687115	0.14973	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05081	3.5	2.97	-0.454	0.12197	.	.	.	.	.	T	0.02119	0.0066	N	0.01235	-0.94	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.12156	0.001;0.007	T	0.45862	-0.9232	9	0.35671	T	0.21	.	6.4389	0.21839	0.0:0.5691:0.0:0.4309	.	147;160	F5H435;Q3SY52	.;ZIK1_HUMAN	L	147;141;160	ENSP00000438487:F147L	ENSP00000303820:F160L	F	+	3	2	ZIK1	62793471	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.064000	0.14437	-0.038000	0.13624	0.555000	0.69702	TTC		0.493	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		22	41	1	0	6.44725e-10	1	7.85205e-10	22	41				
CA5BP1	340591	broad.mit.edu	37	X	15706824	15706824	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15706824C>T	ENST00000380334.2	+	0	68							Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB pseudogene 1							mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)										TTCCTGGGGGCGATCGCCAGT	0.532																																						ENST00000380334.2																			0																																																			0							g.chrX:15706824C>T	BC021816		Xp22.2	2012-11-02	2011-02-07	2011-02-07	ENSG00000186312	ENSG00000186312			29544	pseudogene	pseudogene	"""similar to carbonic anhydrase VB, mitochondrial precursor"", ""carbonic dehydratase"""		"""carbonic anhydrase VB-like"", ""carbonic anhydrase VB pseudogene"""	CA5BL, CA5BP		12477932	Standard	NR_026551		Approved	PRO2325	uc011mir.1	Q8WTZ4	OTTHUMG00000021182		X.37:g.15706824C>T														0	68	+								A6NEZ4	RNA	SNP	ENST00000380334.2	37																																																																																						0.532	CA5BP1-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000055884.3	NR_026551		7	25	0	0	0	1	0	7	25				
NOX1	27035	broad.mit.edu	37	X	100099015	100099015	+	Missense_Mutation	SNP	G	G	A	rs370641862		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100099015G>A	ENST00000372966.3	-	13	1826	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.R504C|NOX1_ENST00000217885.5_Missense_Mutation_p.R492C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	541					angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAGCATTTGCGCAGGCTCTTT	0.423																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(1621-1623)Cgc>Tgc		NADPH oxidase 1							73.0	60.0	64.0					X																	100099015		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100099015G>A	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1621C>T	X.37:g.100099015G>A	ENSP00000362057:p.Arg541Cys					NOX1_ENST00000372960.4_Missense_Mutation_p.R504C|NOX1_ENST00000217885.5_Missense_Mutation_p.R492C|NOX1_ENST00000372964.1_Intron	p.R541C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			13	1826	-			541					A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.1621C>T	CCDS14474.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.17|16.17	3.046610|3.046610	0.55110|0.55110	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000427768|ENST00000372966;ENST00000217885;ENST00000372960;ENST00000372957	.|D;D;D	.|0.95690	.|-3.78;-3.78;-3.78	5.09|5.09	-3.78|-3.78	0.04333|0.04333	.|Ferric reductase, NAD binding (1);	.|1.135820	.|0.06382	.|N	.|0.715458	D|D	0.95124|0.95124	0.8420|0.8420	M|M	0.72479|0.72479	2.2|2.2	0.09310|0.09310	N|N	1|1	.|B;D;D	.|0.61080	.|0.009;0.972;0.989	.|B;P;P	.|0.52386	.|0.003;0.571;0.697	D|D	0.89406|0.89406	0.3699|0.3699	5|10	.|0.72032	.|D	.|0.01	-0.0196|-0.0196	6.3986|6.3986	0.21626|0.21626	0.2044:0.0:0.2841:0.5115|0.2044:0.0:0.2841:0.5115	.|.	.|504;492;541	.|A6NGA6;Q9Y5S8-3;Q9Y5S8	.|.;.;NOX1_HUMAN	V|C	151|541;492;504;156	.|ENSP00000362057:R541C;ENSP00000217885:R492C;ENSP00000362051:R504C	.|ENSP00000217885:R492C	A|R	-|-	2|1	0|0	NOX1|NOX1	99985671|99985671	0.000000|0.000000	0.05858|0.05858	0.049000|0.049000	0.19019|0.19019	0.949000|0.949000	0.60115|0.60115	-0.065000|-0.065000	0.11617|0.11617	-0.911000|-0.911000	0.03843|0.03843	0.597000|0.597000	0.82753|0.82753	GCG|CGC		0.423	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		9	16	0	0	0	1	0	9	16				
ANP32E	81611	broad.mit.edu	37	1	150193064	150193064	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150193064C>A	ENST00000314136.8	-	7	1106		c.e7-1		ANP32E_ENST00000369115.2_Splice_Site|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369116.4_Splice_Site|ANP32E_ENST00000436748.2_Splice_Site|ANP32E_ENST00000369119.3_Splice_Site|ANP32E_ENST00000533654.1_Splice_Site	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E						histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCCTTCTTCTTAAAGAGTG	0.383																																						ENST00000314136.8																			0				breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15						c.e7-1		acidic (leucine-rich) nuclear phosphoprotein 32 family, member E							211.0	205.0	207.0					1																	150193064		2203	4300	6503	SO:0001630	splice_region_variant	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150193064C>A	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.737-1G>T	1.37:g.150193064C>A						ANP32E_ENST00000369119.3_Splice_Site|ANP32E_ENST00000369115.2_Splice_Site|ANP32E_ENST00000533654.1_Splice_Site|ANP32E_ENST00000436748.2_Splice_Site|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369116.4_Splice_Site		NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1106	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)							B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Splice_Site	SNP	ENST00000314136.8	37		CCDS946.1	.	.	.	.	.	.	.	.	.	.	C	9.270	1.045410	0.19748	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369115	.	.	.	5.61	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0031	0.58687	0.2941:0.7059:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANP32E	148459688	1.000000	0.71417	0.330000	0.25442	0.278000	0.26855	5.077000	0.64419	0.777000	0.33496	0.655000	0.94253	.		0.383	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920	Intron	42	95	1	0	7.63091e-17	1	1.01921e-16	42	95				
HNRNPD	3184	broad.mit.edu	37	4	83280639	83280639	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:83280639C>T	ENST00000313899.7	-	3	721	c.444G>A	c.(442-444)tcG>tcA	p.S148S	HNRNPD_ENST00000543098.1_Silent_p.S96S|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Silent_p.S129S|HNRNPD_ENST00000353341.4_Silent_p.S148S	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	148	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CTACACTCTCCGATTCTTTAA	0.358																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(442-444)tcG>tcA		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							95.0	92.0	93.0					4																	83280639		2203	4300	6503	SO:0001819	synonymous_variant	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280639C>T	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.444G>A	4.37:g.83280639C>T						HNRNPD_ENST00000543098.1_Silent_p.S96S|HNRNPD_ENST00000352301.4_Silent_p.S129S|HNRNPD_ENST00000353341.4_Silent_p.S148S|HNRNPD_ENST00000541060.1_Intron	p.S148S	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			3	721	-			148			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Silent	SNP	ENST00000313899.7	37	c.444G>A	CCDS3592.1	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947935	0.18356	.	.	ENSG00000138668	ENST00000514671	.	.	.	5.86	5.01	0.66863	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55270	-0.8167	4	.	.	.	.	5.7603	0.18196	0.2434:0.5685:0.1206:0.0675	.	.	.	.	R	52	.	.	G	-	1	0	HNRNPD	83499663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.856000	0.27818	1.583000	0.49898	0.650000	0.86243	GGA		0.358	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		23	41	0	0	0	1	0	23	41				
FRA10AC1	118924	broad.mit.edu	37	10	95445014	95445014	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95445014A>C	ENST00000359204.4	-	9	811	c.614T>G	c.(613-615)cTt>cGt	p.L205R	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.L205R|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.L205R|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.L205R	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	205	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TAATTTAACAAGTGCATTTCT	0.264																																						ENST00000359204.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						c.(613-615)cTt>cGt		fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							105.0	120.0	115.0					10																	95445014		2201	4295	6496	SO:0001583	missense	118924					nucleus	protein binding	g.chr10:95445014A>C	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.614T>G	10.37:g.95445014A>C	ENSP00000360488:p.Leu205Arg					FRA10AC1_ENST00000536233.1_Missense_Mutation_p.L205R|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.L205R|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.L205R	p.L205R	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN			9	811	-			205			Lys-rich.		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	c.614T>G	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388844	0.82902	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.35605	1.32;1.42;1.3;1.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78114	-0.2330	10	0.87932	D	0	-10.3809	15.7606	0.78076	1.0:0.0:0.0:0.0	.	205	Q70Z53	F10C1_HUMAN	R	205	ENSP00000360488:L205R;ENSP00000438405:L205R;ENSP00000360484:L205R;ENSP00000377660:L205R	ENSP00000360488:L205R	L	-	2	0	FRA10AC1	95435004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.526000	0.90588	2.123000	0.65237	0.533000	0.62120	CTT		0.264	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		17	62	0	0	0	1	0	17	62				
CACNA1B	774	broad.mit.edu	37	9	140851266	140851266	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140851266G>A	ENST00000371372.1	+	9	1375	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.K410K|CACNA1B_ENST00000371355.4_Silent_p.K410K|CACNA1B_ENST00000371357.1_Silent_p.K410K|CACNA1B_ENST00000371363.1_Silent_p.K410K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	410					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGAGGAGAAGTCCCCTTTGG	0.612																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1228-1230)aaG>aaA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						247.0	281.0	270.0					9																	140851266		2195	4275	6470	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140851266G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1230G>A	9.37:g.140851266G>A						CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.K410K|CACNA1B_ENST00000277551.2_Silent_p.K410K|CACNA1B_ENST00000371355.4_Silent_p.K410K|CACNA1B_ENST00000371357.1_Silent_p.K410K	p.K410K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	9	1375	+	all_cancers(76;0.166)		410					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.1230G>A	CCDS59522.1																																																																																				0.612	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		26	47	0	0	0	1	0	26	47				
NLGN4X	57502	broad.mit.edu	37	X	5821807	5821807	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:5821807G>A	ENST00000381095.3	-	5	1539	c.912C>T	c.(910-912)gtC>gtT	p.V304V	NLGN4X_ENST00000275857.6_Silent_p.V304V|NLGN4X_ENST00000381093.2_Silent_p.V324V|NLGN4X_ENST00000538097.1_Silent_p.V304V|NLGN4X_ENST00000381092.1_Silent_p.V304V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	304					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGTTGCAGCCGACCTTGTCTG	0.577																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(910-912)gtC>gtT		neuroligin 4, X-linked							137.0	94.0	109.0					X																	5821807		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821807G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.912C>T	X.37:g.5821807G>A						NLGN4X_ENST00000381092.1_Silent_p.V304V|NLGN4X_ENST00000381093.2_Silent_p.V324V|NLGN4X_ENST00000275857.6_Silent_p.V304V|NLGN4X_ENST00000538097.1_Silent_p.V304V	p.V304V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	1539	-			304					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.912C>T	CCDS14126.1																																																																																				0.577	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		48	84	0	0	0	1	0	48	84				
IL1R2	7850	broad.mit.edu	37	2	102626170	102626170	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:102626170A>C	ENST00000332549.3	+	3	443	c.214A>C	c.(214-216)Aat>Cat	p.N72H	IL1R2_ENST00000441002.1_Missense_Mutation_p.N72H|IL1R2_ENST00000393414.2_Missense_Mutation_p.N72H	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	72	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATGGCATAAAAATGACTCTGC	0.612																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(214-216)Aat>Cat		interleukin 1 receptor, type II	Anakinra(DB00026)						154.0	161.0	158.0					2																	102626170		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102626170A>C	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.214A>C	2.37:g.102626170A>C	ENSP00000330959:p.Asn72His					IL1R2_ENST00000393414.2_Missense_Mutation_p.N72H|IL1R2_ENST00000441002.1_Missense_Mutation_p.N72H	p.N72H	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			3	443	+			72			Ig-like C2-type 1.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.214A>C	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.849964	0.71603	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.8	3.33	0.38152	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.443747	0.24608	N	0.037077	D	0.87224	0.6124	M	0.84326	2.69	0.09310	N	1	D	0.76494	0.999	D	0.66979	0.948	T	0.77247	-0.2658	10	0.25751	T	0.34	.	9.058	0.36416	0.6956:0.0:0.0:0.3044	.	72	P27930	IL1R2_HUMAN	H	72	ENSP00000330959:N72H;ENSP00000377066:N72H;ENSP00000408415:N72H;ENSP00000414611:N72H	ENSP00000330959:N72H	N	+	1	0	IL1R2	101992602	0.099000	0.21834	0.001000	0.08648	0.518000	0.34316	2.724000	0.47285	0.413000	0.25759	0.459000	0.35465	AAT		0.612	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		90	147	0	0	0	1	0	90	147				
TAF1L	138474	broad.mit.edu	37	9	32633900	32633900	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:32633900G>T	ENST00000242310.4	-	1	1767	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	560					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGCCCAAGAGAATTCGACTC	0.448																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1678-1680)Ctc>Atc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							234.0	238.0	236.0					9																	32633900		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633900G>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1678C>A	9.37:g.32633900G>T	ENSP00000418379:p.Leu560Ile					RP11-555J4.4_ENST00000430787.1_RNA	p.L560I	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1767	-			560					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1678C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443420	0.43429	.	.	ENSG00000122728	ENST00000242310	T	0.07444	3.19	1.16	1.16	0.20824	.	0.000000	0.85682	D	0.000000	T	0.05686	0.0149	L	0.38175	1.15	0.43499	D	0.995744	P	0.37276	0.589	B	0.36378	0.223	T	0.43376	-0.9395	10	0.37606	T	0.19	.	4.0426	0.09758	0.2822:0.0:0.7178:0.0	.	560	Q8IZX4	TAF1L_HUMAN	I	560	ENSP00000418379:L560I	ENSP00000418379:L560I	L	-	1	0	TAF1L	32623900	1.000000	0.71417	0.987000	0.45799	0.514000	0.34195	2.870000	0.48451	0.507000	0.28148	0.195000	0.17529	CTC		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			14	207	1	0	3.27435e-08	1	3.83577e-08	14	207				
HSP90AB2P	391634	broad.mit.edu	37	4	13338505	13338505	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13338505T>C	ENST00000602906.1	+	0	448							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						TATTGGCTTTTATTCTGCCTA	0.463																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														0							g.chr4:13338505T>C	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13338505T>C														0	448	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.463	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			5	47	0	0	0	1	0	5	47				
OSBPL6	114880	broad.mit.edu	37	2	179253834	179253834	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179253834G>T	ENST00000190611.4	+	21	2631	c.2255G>T	c.(2254-2256)aGa>aTa	p.R752I	OSBPL6_ENST00000359685.3_Missense_Mutation_p.R716I|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R721I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R777I|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R716I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R756I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	752					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTAACCATCAGAAATACCAAA	0.353																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2254-2256)aGa>aTa		oxysterol binding protein-like 6							128.0	110.0	116.0					2																	179253834		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179253834G>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2255G>T	2.37:g.179253834G>T	ENSP00000190611:p.Arg752Ile					OSBPL6_ENST00000409045.3_Missense_Mutation_p.R721I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R716I|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R716I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R777I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R756I	p.R752I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		21	2631	+			752					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2255G>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149176	0.78001	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	L	0.43646	1.37	0.80722	D	1	D;P;B;D;P	0.89917	0.957;0.631;0.009;1.0;0.93	P;P;B;D;P	0.87578	0.852;0.6;0.078;0.998;0.672	T	0.25641	-1.0126	10	0.37606	T	0.19	-19.9971	20.0965	0.97849	0.0:0.0:1.0:0.0	.	721;756;716;777;752	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	I	777;716;721;752;716;756	ENSP00000376293:R777I;ENSP00000352713:R716I;ENSP00000387248:R721I;ENSP00000190611:R752I;ENSP00000386885:R716I;ENSP00000318723:R756I	ENSP00000190611:R752I	R	+	2	0	OSBPL6	178962080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.667000	0.68067	2.824000	0.97209	0.655000	0.94253	AGA		0.353	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		19	31	1	0	1.33834e-09	1	1.61283e-09	19	31				
CCDC132	55610	broad.mit.edu	37	7	92926544	92926544	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92926544G>T	ENST00000305866.5	+	16	1478	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	CCDC132_ENST00000535481.1_Missense_Mutation_p.K170N|CCDC132_ENST00000541136.1_Missense_Mutation_p.K261N|CCDC132_ENST00000317751.6_Missense_Mutation_p.K181N|CCDC132_ENST00000544910.1_Missense_Mutation_p.K420N	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	450						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.K450N(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTATTTCAAGAATTACCATA	0.284																																						ENST00000544910.1																			1	Substitution - Missense(1)	p.K450N(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(5)	8						c.(1258-1260)aaG>aaT		coiled-coil domain containing 132							53.0	51.0	52.0					7																	92926544		1793	4057	5850	SO:0001583	missense	55610							g.chr7:92926544G>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1350G>T	7.37:g.92926544G>T	ENSP00000307666:p.Lys450Asn					CCDC132_ENST00000305866.5_Missense_Mutation_p.K450N|CCDC132_ENST00000317751.6_Missense_Mutation_p.K181N|CCDC132_ENST00000541136.1_Missense_Mutation_p.K261N|CCDC132_ENST00000535481.1_Missense_Mutation_p.K170N	p.K420N	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		17	1480	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		450					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1260G>T	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.20|13.20	2.166804|2.166804	0.38217|0.38217	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.47528|.	0.84|.	5.16|5.16	0.925|0.925	0.19424|0.19424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66177|0.66177	0.2763|0.2763	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.71674|.	0.998;0.989;0.981|.	D;D;D|.	0.76071|.	0.987;0.985;0.966|.	T|T	0.60209|0.60209	-0.7308|-0.7308	10|5	0.62326|.	D|.	0.03|.	-21.6931|-21.6931	11.7633|11.7633	0.51916|0.51916	0.4384:0.0:0.5616:0.0|0.4384:0.0:0.5616:0.0	.|.	170;420;450|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	N|I	450;420;261;170;181|237	ENSP00000325582:K181N|.	ENSP00000307666:K450N|.	K|R	+|+	3|2	2|0	CCDC132|CCDC132	92764480|92764480	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.599000|0.599000	0.36880|0.36880	1.198000|1.198000	0.32223|0.32223	-0.251000|-0.251000	0.09542|0.09542	-1.151000|-1.151000	0.01829|0.01829	AAG|AGA		0.284	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		5	23	1	0	0.0215528	1	0.0219788	5	23				
TBC1D1	23216	broad.mit.edu	37	4	38046077	38046077	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38046077C>A	ENST00000261439.4	+	9	1863	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S503Y	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	503					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCAAAGAGATCTTTAACAGAG	0.368																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(1507-1509)tCt>tAt		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							113.0	111.0	112.0					4																	38046077		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38046077C>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1508C>A	4.37:g.38046077C>A	ENSP00000261439:p.Ser503Tyr					TBC1D1_ENST00000508802.1_Missense_Mutation_p.S503Y	p.S503Y	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			9	1863	+			503					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.1508C>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374854	0.82573	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.70282	2.69;-0.47;-0.47	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000018	D	0.85932	0.5812	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.999	D	0.86626	0.1882	10	0.87932	D	0	-18.2262	19.8936	0.96942	0.0:1.0:0.0:0.0	.	503;503;235;503	B9A6J6;E9PGH8;Q6PJJ8;Q86TI0	.;.;.;TBCD1_HUMAN	Y	503;503;374	ENSP00000423651:S503Y;ENSP00000261439:S503Y;ENSP00000396877:S374Y	ENSP00000261439:S503Y	S	+	2	0	TBC1D1	37722472	0.998000	0.40836	0.983000	0.44433	0.926000	0.56050	4.983000	0.63832	2.793000	0.96121	0.655000	0.94253	TCT		0.368	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		20	50	1	0	1.15919e-05	1	1.28007e-05	20	50				
FSTL5	56884	broad.mit.edu	37	4	162841649	162841649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:162841649C>A	ENST00000306100.5	-	4	752	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.E105*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.E105*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.E105*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	106	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCATAGAATTCTCCGTCAGAT	0.438																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(316-318)Gaa>Taa		follistatin-like 5							131.0	119.0	123.0					4																	162841649		2203	4300	6503	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162841649C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.316G>T	4.37:g.162841649C>A	ENSP00000305334:p.Glu106*					FSTL5_ENST00000379164.4_Nonsense_Mutation_p.E105*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.E105*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.E105*	p.E106*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	4	752	-	all_hematologic(180;0.24)		106			Kazal-like.		E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.316G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	40	8.464409	0.98822	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.86	4.09	0.47781	.	0.160779	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2245	0.82284	0.0:0.7312:0.2688:0.0	.	.	.	.	X	106;105;105;105	.	ENSP00000305334:E106X	E	-	1	0	FSTL5	163061099	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	1.405000	0.34635	0.867000	0.35654	0.650000	0.86243	GAA		0.438	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		17	25	1	0	1.67942e-08	1	1.98515e-08	17	25				
LMBRD1	55788	broad.mit.edu	37	6	70386119	70386119	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:70386119T>G	ENST00000370577.3	-	16	1783	c.1554A>C	c.(1552-1554)aaA>aaC	p.K518N	LMBRD1_ENST00000370570.1_Missense_Mutation_p.K445N	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	518					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CAATAACCGATTTCTTCCCTT	0.323																																						ENST00000370577.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(1552-1554)aaA>aaC		LMBR1 domain containing 1							126.0	127.0	127.0					6																	70386119		2203	4300	6503	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70386119T>G	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1554A>C	6.37:g.70386119T>G	ENSP00000359609:p.Lys518Asn					LMBRD1_ENST00000370570.1_Missense_Mutation_p.K445N	p.K518N	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN			16	1783	-			518					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.1554A>C	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	t	14.11	2.436749	0.43224	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.19105	2.17;2.17	5.37	-6.11	0.02131	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	M	0.69823	2.125	0.54753	D	0.99998	D	0.76494	0.999	D	0.72075	0.976	T	0.47911	-0.9080	10	0.72032	D	0.01	-12.6707	13.9962	0.64402	0.0:0.5464:0.0:0.4536	.	518	Q9NUN5	LMBD1_HUMAN	N	518;445	ENSP00000359609:K518N;ENSP00000359602:K445N	ENSP00000359602:K445N	K	-	3	2	LMBRD1	70442840	0.914000	0.31030	0.713000	0.30519	0.125000	0.20455	-0.052000	0.11865	-1.014000	0.03379	-1.176000	0.01726	AAA		0.323	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		8	25	0	0	0	1	0	8	25				
STIM2	57620	broad.mit.edu	37	4	27003940	27003940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:27003940G>T	ENST00000467011.1	+	6	1152	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	STIM2_ENST00000382009.3_Nonsense_Mutation_p.E330*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000412829.2_Nonsense_Mutation_p.E330*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.E330*	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	243					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.E330*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GACATCAAAAGAACATGTTGC	0.373																																						ENST00000382009.3																			1	Substitution - Nonsense(1)	p.E330*(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(988-990)Gaa>Taa		stromal interaction molecule 2							92.0	89.0	90.0					4																	27003940		2203	4299	6502	SO:0001587	stop_gained	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27003940G>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.727G>T	4.37:g.27003940G>T	ENSP00000419383:p.Glu243*					STIM2_ENST00000412829.2_Nonsense_Mutation_p.E330*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000467011.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.E330*	p.E330*	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			6	1255	+		Breast(46;0.0503)	243					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Nonsense_Mutation	SNP	ENST00000467011.1	37	c.988G>T	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	40	8.195741	0.98701	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	.	.	.	5.5	5.5	0.81552	.	0.104865	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.782	0.96420	0.0:0.0:1.0:0.0	.	.	.	.	X	243;330;330;243;330;243	.	.	E	+	1	0	STIM2	26613038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.548000	0.60718	2.765000	0.95021	0.650000	0.86243	GAA		0.373	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		16	18	1	0	3.45872e-05	1	3.78815e-05	16	18				
GRID2	2895	broad.mit.edu	37	4	93511403	93511403	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:93511403T>G	ENST00000282020.4	+	2	468	c.210T>G	c.(208-210)gtT>gtG	p.V70V	GRID2_ENST00000510992.1_Silent_p.V70V|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	70					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGACGTTTGTTGATGGCAACA	0.383																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(208-210)gtT>gtG		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						163.0	158.0	160.0					4																	93511403		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:93511403T>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.210T>G	4.37:g.93511403T>G						GRID2_ENST00000510992.1_Silent_p.V70V|GRID2_ENST00000505687.1_3'UTR	p.V70V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	2	468	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	70					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.210T>G	CCDS3637.1																																																																																				0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			30	67	0	0	0	1	0	30	67				
SMARCA1	6594	broad.mit.edu	37	X	128657270	128657270	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128657270G>A	ENST00000371122.4	-	1	207	c.78C>T	c.(76-78)gaC>gaT	p.D26D	SMARCA1_ENST00000371123.1_Silent_p.D26D|SMARCA1_ENST00000478420.1_5'Flank|SMARCA1_ENST00000371121.3_Silent_p.D26D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	26					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGGGCTGCTCGTCCTCTATGA	0.687																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(76-78)gaC>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							92.0	79.0	84.0					X																	128657270		2200	4298	6498	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128657270G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.78C>T	X.37:g.128657270G>A						SMARCA1_ENST00000371123.1_Silent_p.D26D|SMARCA1_ENST00000371121.3_Silent_p.D26D	p.D26D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			1	207	-			26					Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.78C>T	CCDS14612.1																																																																																				0.687	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		16	93	0	0	0	1	0	16	93				
UPB1	51733	broad.mit.edu	37	22	24911222	24911222	+	Silent	SNP	C	C	T	rs143438140	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24911222C>T	ENST00000326010.5	+	6	1019	c.675C>T	c.(673-675)ttC>ttT	p.F225F	UPB1_ENST00000413389.2_Silent_p.F157F|AP000355.2_ENST00000432032.1_RNA	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	225	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.F225F(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGACGCAGTTCGGAAGGATCG	0.537																																						ENST00000413389.2																			1	Substitution - coding silent(1)	p.F225F(1)	upper_aerodigestive_tract(1)	endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(469-471)ttC>ttT		ureidopropionase, beta		T		2,4404	4.2+/-10.8	0,2,2201	139.0	115.0	123.0		675	-10.2	0.0	22	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UPB1	NM_016327.2		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		225/385	24911222	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24911222C>T	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.675C>T	22.37:g.24911222C>T						UPB1_ENST00000326010.5_Silent_p.F225F	p.F157F			Q9UBR1	BUP1_HUMAN			6	2064	+	Colorectal(2;0.0339)		225			CN hydrolase.		A3KMF8|Q9UIR3	Silent	SNP	ENST00000326010.5	37	c.471C>T	CCDS13827.1																																																																																				0.537	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			47	83	0	0	0	1	0	47	83				
UROD	7389	broad.mit.edu	37	1	45481017	45481017	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45481017C>T	ENST00000246337.4	+	10	1070	c.951C>T	c.(949-951)atC>atT	p.I317I	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	317					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGGAGGAGATCGGGCAGTTGG	0.532									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000246337.4																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(949-951)atC>atT		uroporphyrinogen decarboxylase							103.0	91.0	95.0					1																	45481017		2203	4300	6503	SO:0001819	synonymous_variant	7389	Porphyria Cutanea Tarda, Type II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45481017C>T	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.951C>T	1.37:g.45481017C>T			OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	UROD_ENST00000494399.1_3'UTR	p.I317I	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN			10	1070	+	Acute lymphoblastic leukemia(166;0.155)		317					A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Silent	SNP	ENST00000246337.4	37	c.951C>T	CCDS518.1																																																																																				0.532	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		16	23	0	0	0	1	0	16	23				
TRIM34	53840	broad.mit.edu	37	11	5664849	5664849	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5664849C>A	ENST00000514226.1	+	8	1714	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.F459L|TRIM34_ENST00000495668.1_3'UTR|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.F459L|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.F813L	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTACAAGTTCTCTAAATGTT	0.453																																						ENST00000354852.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(2437-2439)ttC>ttA									158.0	157.0	157.0					11																	5664849		2201	4297	6498	SO:0001583	missense	0					intracellular	zinc ion binding	g.chr11:5664849C>A	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.1377C>A	11.37:g.5664849C>A	ENSP00000422947:p.Phe459Leu					TRIM34_ENST00000514226.1_Missense_Mutation_p.F459L|TRIM34_ENST00000495668.1_3'UTR|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.F459L|TRIM34_ENST00000429814.2_Missense_Mutation_p.F459L	p.F813L	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	14	2612	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	813					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.2439C>A	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772879	0.49680	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	2.99	-1.64	0.08318	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.34460	N	0.003952	D	0.86628	0.5978	M	0.91406	3.205	0.09310	N	1	D;D	0.89917	0.994;1.0	D;D	0.79108	0.975;0.992	T	0.77566	-0.2540	10	0.87932	D	0	.	6.6089	0.22741	0.0:0.3967:0.0:0.6033	.	459;813	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	L	813;459;459;459;813	ENSP00000422947:F459L;ENSP00000402595:F459L;ENSP00000395982:F459L;ENSP00000346916:F813L	ENSP00000402595:F459L	F	+	3	2	TRIM34;TRIM6-TRIM34	5621425	0.040000	0.19996	0.002000	0.10522	0.949000	0.60115	0.003000	0.13083	-0.355000	0.08199	0.467000	0.42956	TTC		0.453	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		38	105	1	0	4.62619e-21	1	6.37263e-21	38	105				
MLLT3	4300	broad.mit.edu	37	9	20414132	20414132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:20414132C>A	ENST00000380338.4	-	5	998	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	MLLT3_ENST00000475957.1_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000429426.2_Nonsense_Mutation_p.E235*|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	238					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GGTTTATTTTCTTTGGGTTTC	0.383			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(712-714)Gaa>Taa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							286.0	301.0	296.0					9																	20414132		2203	4300	6503	SO:0001587	stop_gained	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414132C>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.712G>T	9.37:g.20414132C>A	ENSP00000369695:p.Glu238*					MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Nonsense_Mutation_p.E235*|MLLT3_ENST00000355930.6_5'UTR	p.E238*	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	998	-			238					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Nonsense_Mutation	SNP	ENST00000380338.4	37	c.712G>T	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	37	6.229918	0.97394	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.2643	19.7967	0.96487	0.0:1.0:0.0:0.0	.	.	.	.	X	238;235;277	.	ENSP00000369695:E238X	E	-	1	0	MLLT3	20404132	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.621000	0.83083	2.681000	0.91329	0.591000	0.81541	GAA		0.383	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		64	124	1	0	1.33661e-31	1	1.91338e-31	64	124				
RPGRIP1L	23322	broad.mit.edu	37	16	53682877	53682877	+	Splice_Site	SNP	G	G	A	rs542206983		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:53682877G>A	ENST00000379925.3	-	16	2353	c.2303C>T	c.(2302-2304)tCg>tTg	p.S768L	RPGRIP1L_ENST00000563746.1_Splice_Site_p.S768L|RPGRIP1L_ENST00000262135.4_Splice_Site_p.S768L|RPGRIP1L_ENST00000564374.1_Splice_Site_p.S768L	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	768					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)				TGAGCTTACCGACTGCATATG	0.353																																						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.e16+1		RPGRIP1-like							93.0	86.0	88.0					16																	53682877		2198	4300	6498	SO:0001630	splice_region_variant	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.chr16:53682877G>A		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.2304+1C>T	16.37:g.53682877G>A						RPGRIP1L_ENST00000564374.1_Splice_Site_p.S768_splice|RPGRIP1L_ENST00000379925.3_Splice_Site_p.S768_splice|RPGRIP1L_ENST00000563746.1_Splice_Site_p.S768_splice	p.S768_splice	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			16	2396	-		all_cancers(37;0.0973)	768					A0PJ88|Q9Y2K8	Splice_Site	SNP	ENST00000379925.3	37	c.2304_splice	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	5.355	0.250706	0.10130	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.76709	-0.82;-1.04	6.08	-0.274	0.12910	C2 calcium/lipid-binding domain, CaLB (1);	1.248750	0.05227	N	0.509701	T	0.51686	0.1689	N	0.08118	0	0.23677	N	0.997135	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.35425	-0.9789	10	0.10902	T	0.67	2.36	1.1816	0.01846	0.4393:0.1946:0.2258:0.1403	.	768;768;768;768	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	L	768	ENSP00000369257:S768L;ENSP00000262135:S768L	ENSP00000262135:S768L	S	-	2	0	RPGRIP1L	52240378	0.228000	0.23718	0.238000	0.24106	0.138000	0.21146	0.240000	0.18042	0.065000	0.16485	0.591000	0.81541	TCG		0.353	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	Missense_Mutation	11	61	0	0	0	1	0	11	61				
PTPRB	5787	broad.mit.edu	37	12	70946656	70946656	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70946656T>C	ENST00000261266.5	-	19	4663	c.4634A>G	c.(4633-4635)aAc>aGc	p.N1545S	PTPRB_ENST00000451516.2_Missense_Mutation_p.N1455S|PTPRB_ENST00000334414.6_Missense_Mutation_p.N1763S|PTPRB_ENST00000550857.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1675S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1545	Fibronectin type-III 17. {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)			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)			AAGCTTAATGTTAAAACTCTT	0.463																																						ENST00000334414.6																			0				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.(5287-5289)aAc>aGc		protein tyrosine phosphatase, receptor type, B							111.0	106.0	108.0					12																	70946656		1884	4119	6003	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70946656T>C	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.4634A>G	12.37:g.70946656T>C	ENSP00000261266:p.Asn1545Ser					PTPRB_ENST00000550857.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1675S|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000261266.5_Missense_Mutation_p.N1545S|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1455S	p.N1763S	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)		21	5332	-	Renal(347;0.236)		1545			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5288A>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.254122	0.39896	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.02682	4.22;4.23;4.2;4.28;4.23;4.28	5.76	4.59	0.56863	Fibronectin, type III (3);	0.441828	0.28515	N	0.015066	T	0.01695	0.0054	N	0.08118	0	0.25683	N	0.985774	B;B;B;B;P	0.35033	0.218;0.218;0.163;0.102;0.481	B;B;B;B;B	0.33454	0.117;0.117;0.075;0.034;0.164	T	0.46345	-0.9198	10	0.07813	T	0.8	.	12.9679	0.58494	0.0:0.0:0.1351:0.8649	.	1455;1455;1763;1545;1675	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	S	1763;1455;1675;1455;1455;1545	ENSP00000334928:N1763S;ENSP00000393028:N1455S;ENSP00000448058:N1675S;ENSP00000438927:N1455S;ENSP00000447302:N1455S;ENSP00000261266:N1545S	ENSP00000261266:N1545S	N	-	2	0	PTPRB	69232923	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	5.800000	0.69108	0.967000	0.38186	0.482000	0.46254	AAC		0.463	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			30	49	0	0	0	1	0	30	49				
KRT24	192666	broad.mit.edu	37	17	38859658	38859658	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38859658G>T	ENST00000264651.2	-	1	344	c.288C>A	c.(286-288)gtC>gtA	p.V96V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	96	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CAAATCCAGAGACCCCGCCAA	0.567																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(286-288)gtC>gtA		keratin 24							103.0	126.0	118.0					17																	38859658		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859658G>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.288C>A	17.37:g.38859658G>T							p.V96V	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			1	344	-		Breast(137;0.00526)	96			Gly-rich.|Head.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.288C>A	CCDS11372.1																																																																																				0.567	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		85	160	1	0	1.07134e-49	1	1.55542e-49	85	160				
ARFGEF1	10565	broad.mit.edu	37	8	68111283	68111283	+	Silent	SNP	T	T	C	rs371347759		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:68111283T>C	ENST00000262215.3	-	39	5825	c.5436A>G	c.(5434-5436)caA>caG	p.Q1812Q	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Intron	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1812					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCAAGTCAAATTGCATAATTT	0.383																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(5434-5436)caA>caG		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)		T		1,4405	2.1+/-5.4	0,1,2202	129.0	125.0	127.0		5436	-1.2	1.0	8		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARFGEF1	NM_006421.4		0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154		1812/1850	68111283	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68111283T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5436A>G	8.37:g.68111283T>C						ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'UTR	p.Q1812Q	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		39	5825	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1812					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.5436A>G	CCDS6199.1																																																																																				0.383	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		23	55	0	0	0	1	0	23	55				
ILF3	3609	broad.mit.edu	37	19	10793809	10793809	+	Intron	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10793809A>C	ENST00000590261.1	+	13	1548				ILF3_ENST00000420083.1_Intron|ILF3_ENST00000407004.3_Missense_Mutation_p.K519N|ILF3_ENST00000449870.1_Missense_Mutation_p.K519N|ILF3_ENST00000250241.8_Intron|ILF3_ENST00000588657.1_Missense_Mutation_p.K519N|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000592763.1_Missense_Mutation_p.K519N|ILF3_ENST00000589998.1_Intron			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAACGTAAAACAGCAGGGGC	0.562																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1555-1557)aaA>aaC		interleukin enhancer binding factor 3, 90kDa							93.0	100.0	98.0					19																	10793809		2203	4300	6503	SO:0001627	intron_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10793809A>C	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1549-4A>C	19.37:g.10793809A>C						ILF3_ENST00000588657.1_Missense_Mutation_p.K519N|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000407004.3_Missense_Mutation_p.K519N|ILF3_ENST00000420083.1_Intron|ILF3_ENST00000590261.1_Intron|ILF3_ENST00000589998.1_Intron|ILF3_ENST00000592763.1_Missense_Mutation_p.K519N|ILF3_ENST00000250241.8_Intron	p.K519N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		14	1874	+			516					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1557A>C	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120405	0.56613	.	.	ENSG00000129351	ENST00000449870;ENST00000407004	T;T	0.15603	2.41;2.42	5.43	4.42	0.53409	.	.	.	.	.	T	0.21427	0.0516	L	0.43152	1.355	0.80722	D	1	B;P;P	0.51351	0.397;0.944;0.628	B;P;B	0.50659	0.073;0.647;0.236	T	0.00867	-1.1534	9	0.72032	D	0.01	.	8.482	0.33049	0.9111:0.0:0.0889:0.0	.	519;519;519	Q12906-4;G5E9M5;Q12906-6	.;.;.	N	519	ENSP00000404121:K519N;ENSP00000384660:K519N	ENSP00000384660:K519N	K	+	3	2	ILF3	10654809	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.375000	0.20518	2.061000	0.61500	0.528000	0.53228	AAA		0.562	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			63	108	0	0	0	1	0	63	108				
C3orf20	84077	broad.mit.edu	37	3	14724344	14724344	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14724344G>T	ENST00000253697.3	+	3	576	c.124G>T	c.(124-126)Ggc>Tgc	p.G42C	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	42			G -> D (in dbSNP:rs17040154).			cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGTACCAAAAGGCATCAGAAA	0.512																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(124-126)Ggc>Tgc		chromosome 3 open reading frame 20							131.0	135.0	133.0					3																	14724344		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14724344G>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.124G>T	3.37:g.14724344G>T	ENSP00000253697:p.Gly42Cys					C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	p.G42C	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			3	576	+			42		G -> D (in dbSNP:rs17040154).			Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.124G>T	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818274	0.71028	.	.	ENSG00000131379	ENST00000253697	T	0.25579	1.79	5.28	5.28	0.74379	.	0.000000	0.48767	D	0.000170	T	0.42359	0.1199	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31110	-0.9955	10	0.87932	D	0	-26.0886	15.8379	0.78814	0.0:0.0:1.0:0.0	.	42	Q8ND61	CC020_HUMAN	C	42	ENSP00000253697:G42C	ENSP00000253697:G42C	G	+	1	0	C3orf20	14699348	1.000000	0.71417	0.999000	0.59377	0.738000	0.42128	5.001000	0.63946	2.465000	0.83290	0.591000	0.81541	GGC		0.512	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		26	92	1	0	1.16021e-09	1	1.40238e-09	26	92				
ZNF43	7594	broad.mit.edu	37	19	21991559	21991559	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21991559T>G	ENST00000354959.4	-	4	1449	c.1280A>C	c.(1279-1281)aAa>aCa	p.K427T	ZNF43_ENST00000595461.1_Missense_Mutation_p.K421T|ZNF43_ENST00000598381.1_Missense_Mutation_p.K421T|ZNF43_ENST00000594012.1_Missense_Mutation_p.K421T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTTCACATTTGTAGGGTTT	0.393																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1261-1263)aAa>aCa		zinc finger protein 43							63.0	66.0	65.0					19																	21991559		2190	4290	6480	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991559T>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1280A>C	19.37:g.21991559T>G	ENSP00000347045:p.Lys427Thr					ZNF43_ENST00000595461.1_Missense_Mutation_p.K421T|ZNF43_ENST00000354959.4_Missense_Mutation_p.K427T|ZNF43_ENST00000598381.1_Missense_Mutation_p.K421T	p.K421T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1776	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	427					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1262A>C	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294802	0.23564	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.58060	0.36	1.75	-1.89	0.07689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64204	0.2577	M	0.63843	1.955	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56565	-0.7958	9	0.56958	D	0.05	.	8.4894	0.33091	0.0:0.0:0.5954:0.4046	.	427	P17038	ZNF43_HUMAN	T	426;427	ENSP00000347045:K427T	ENSP00000347045:K427T	K	-	2	0	ZNF43	21783399	0.000000	0.05858	0.001000	0.08648	0.217000	0.24651	-1.065000	0.03458	-0.713000	0.04981	0.248000	0.18094	AAA		0.393	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		37	44	0	0	0	1	0	37	44				
ADAM21P1	145241	broad.mit.edu	37	14	70713070	70713070	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70713070C>A	ENST00000530196.1	-	0	1448					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GAGTGCAGTTCAATGGACAAC	0.488																																						ENST00000530196.1																			0																																																			0							g.chr14:70713070C>A			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713070C>A								NR_003951.1						0	1448	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.488	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		6	48	1	0	0.0215528	1	0.0219788	6	48				
LHFPL1	340596	broad.mit.edu	37	X	111874817	111874817	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111874817A>C	ENST00000371968.3	-	4	733	c.494T>G	c.(493-495)cTt>cGt	p.L165R	LHFPL1_ENST00000536453.1_Missense_Mutation_p.L132R|LHFPL1_ENST00000478229.1_5'UTR	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	165						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGCCCAGCCAAGCCGACAGGT	0.473																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(493-495)cTt>cGt		lipoma HMGIC fusion partner-like 1							38.0	37.0	38.0					X																	111874817		2203	4299	6502	SO:0001583	missense	340596					integral to membrane		g.chrX:111874817A>C	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.494T>G	X.37:g.111874817A>C	ENSP00000361036:p.Leu165Arg					LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Missense_Mutation_p.L132R	p.L165R	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			4	733	-			165					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.494T>G	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	a	15.60	2.882036	0.51908	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.76709	-1.04;0.48	5.19	4.03	0.46877	.	0.115998	0.64402	D	0.000017	D	0.84566	0.5500	M	0.70595	2.14	0.43907	D	0.996548	D;D	0.67145	0.99;0.996	P;D	0.69824	0.899;0.966	D	0.83935	0.0308	10	0.72032	D	0.01	-9.6649	8.1776	0.31292	0.9046:0.0:0.0954:0.0	.	132;165	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	R	165;132	ENSP00000361036:L165R;ENSP00000444573:L132R	ENSP00000361036:L165R	L	-	2	0	LHFPL1	111761473	1.000000	0.71417	0.948000	0.38648	0.983000	0.72400	8.073000	0.89498	0.790000	0.33803	0.483000	0.47432	CTT		0.473	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		17	49	0	0	0	1	0	17	49				
ADAMTSL1	92949	broad.mit.edu	37	9	18639251	18639251	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:18639251G>T	ENST00000380548.4	+	7	1015		c.e7-1		ADAMTSL1_ENST00000276935.6_Splice_Site|ADAMTSL1_ENST00000327883.7_Splice_Site|ADAMTSL1_ENST00000380566.4_Splice_Site	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1							proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGATCATATAGATCTGGAAAC	0.438																																						ENST00000380548.4																			2	Unknown(2)	p.?(2)	endometrium(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.e7-1		ADAMTS-like 1							68.0	61.0	63.0					9																	18639251		2203	4299	6502	SO:0001630	splice_region_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18639251G>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.677-1G>T	9.37:g.18639251G>T						ADAMTSL1_ENST00000327883.7_Splice_Site|ADAMTSL1_ENST00000380566.4_Splice_Site|ADAMTSL1_ENST00000276935.6_Splice_Site		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	7	1015	+								A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Splice_Site	SNP	ENST00000380548.4	37		CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896992	0.72639	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTSL1	18629251	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.654000	0.91092	2.890000	0.99128	0.650000	0.86243	.		0.438	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		Intron	16	13	1	0	1.5739e-10	1	1.93697e-10	16	13				
CNGB3	54714	broad.mit.edu	37	8	87656060	87656060	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87656060A>C	ENST00000320005.5	-	10	1144	c.1097T>G	c.(1096-1098)aTt>aGt	p.I366S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	366					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ACAGGCATTAATGTGCAGAAT	0.368																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1096-1098)aTt>aGt		cyclic nucleotide gated channel beta 3							130.0	121.0	124.0					8																	87656060		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87656060A>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1097T>G	8.37:g.87656060A>C	ENSP00000316605:p.Ile366Ser						p.I366S	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			10	1144	-			366					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1097T>G	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179739	0.78564	.	.	ENSG00000170289	ENST00000320005	D	0.97941	-4.62	5.44	5.44	0.79542	.	0.205062	0.38720	N	0.001599	D	0.97898	0.9309	L	0.49126	1.545	0.58432	D	0.999991	D;D	0.62365	0.991;0.983	P;D	0.63703	0.865;0.917	D	0.98959	1.0797	10	0.72032	D	0.01	.	15.8028	0.78468	1.0:0.0:0.0:0.0	.	366;366	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	S	366	ENSP00000316605:I366S	ENSP00000316605:I366S	I	-	2	0	CNGB3	87725176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.739000	0.91574	2.183000	0.69458	0.533000	0.62120	ATT		0.368	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		25	39	0	0	0	1	0	25	39				
DDI1	414301	broad.mit.edu	37	11	103908440	103908440	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103908440G>T	ENST00000302259.3	+	1	1133	c.890G>T	c.(889-891)aGa>aTa	p.R297I	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	297							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCACACAGAGAATTATTGGC	0.483																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(889-891)aGa>aTa		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							124.0	114.0	117.0					11																	103908440		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908440G>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.890G>T	11.37:g.103908440G>T	ENSP00000302805:p.Arg297Ile					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.R297I	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1133	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	297					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.890G>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	7.257	0.604368	0.14002	.	.	ENSG00000170967	ENST00000302259	T	0.48201	0.82	5.21	0.0935	0.14477	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.050180	0.85682	D	0.000000	T	0.33411	0.0862	L	0.47016	1.485	0.47183	D	0.999345	B	0.06786	0.001	B	0.09377	0.004	T	0.11767	-1.0574	10	0.62326	D	0.03	-10.7267	3.8431	0.08923	0.2129:0.0:0.3427:0.4445	.	297	Q8WTU0	DDI1_HUMAN	I	297	ENSP00000302805:R297I	ENSP00000302805:R297I	R	+	2	0	DDI1	103413650	1.000000	0.71417	0.029000	0.17559	0.026000	0.11368	4.618000	0.61211	0.144000	0.18951	-0.953000	0.02652	AGA		0.483	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		7	86	1	0	0.00198382	1	0.00207034	7	86				
TAF7L	54457	broad.mit.edu	37	X	100530220	100530220	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100530220T>A	ENST00000372907.3	-	12	1345	c.1334A>T	c.(1333-1335)aAa>aTa	p.K445I	TAF7L_ENST00000356784.1_Missense_Mutation_p.K359I|TAF7L_ENST00000372905.2_Missense_Mutation_p.K285I|TAF7L_ENST00000324762.6_Missense_Mutation_p.K285I	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	445					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTTCTCATTTTTTTGTTTTTC	0.333																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1333-1335)aAa>aTa		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							203.0	187.0	192.0					X																	100530220		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100530220T>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1334A>T	X.37:g.100530220T>A	ENSP00000361998:p.Lys445Ile					TAF7L_ENST00000356784.1_Missense_Mutation_p.K359I|TAF7L_ENST00000324762.6_Missense_Mutation_p.K285I|TAF7L_ENST00000372905.2_Missense_Mutation_p.K285I	p.K445I	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			12	1345	-			445					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.1334A>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	T	8.770	0.925591	0.18056	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.25912	3.59;1.77;1.77;3.59	5.12	-0.878	0.10617	.	0.550022	0.16375	N	0.217180	T	0.37404	0.1002	L	0.61218	1.895	0.19775	N	0.999955	D;D	0.67145	0.996;0.98	P;P	0.59171	0.853;0.837	T	0.25012	-1.0144	10	0.87932	D	0	-7.6608	8.7808	0.34789	0.0:0.3537:0.0:0.6463	.	445;285	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	I	445;285;285;359	ENSP00000361998:K445I;ENSP00000361996:K285I;ENSP00000320283:K285I;ENSP00000349235:K359I	ENSP00000320283:K285I	K	-	2	0	TAF7L	100416876	0.996000	0.38824	0.000000	0.03702	0.035000	0.12851	1.054000	0.30455	-0.604000	0.05760	0.150000	0.16122	AAA		0.333	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			74	112	0	0	0	1	0	74	112				
TMX2	51075	broad.mit.edu	37	11	57506209	57506209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57506209C>A	ENST00000278422.4	+	5	527	c.515C>A	c.(514-516)tCa>tAa	p.S172*	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Nonsense_Mutation_p.S134*	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	172	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GACTGCCAATCATTTGCCCCT	0.483																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(514-516)tCa>tAa		thioredoxin-related transmembrane protein 2							193.0	176.0	182.0					11																	57506209		2201	4296	6497	SO:0001587	stop_gained	51075				cell redox homeostasis	integral to membrane		g.chr11:57506209C>A	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.515C>A	11.37:g.57506209C>A	ENSP00000278422:p.Ser172*					TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Nonsense_Mutation_p.S134*	p.S172*	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			5	527	+			172			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Nonsense_Mutation	SNP	ENST00000278422.4	37	c.515C>A	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004278	0.74932	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5434	19.9882	0.97356	0.0:1.0:0.0:0.0	.	.	.	.	X	134;172	.	ENSP00000278422:S172X	S	+	2	0	TMX2	57262785	1.000000	0.71417	0.893000	0.35052	0.997000	0.91878	7.280000	0.78610	2.824000	0.97209	0.655000	0.94253	TCA		0.483	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		48	96	1	0	2.43468e-25	1	3.42684e-25	48	96				
WAPAL	23063	broad.mit.edu	37	10	88277381	88277381	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88277381C>T	ENST00000298767.5	-	2	918	c.446G>A	c.(445-447)cGa>cAa	p.R149Q		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	149	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTACAATTCGGTTTGTGCT	0.368																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(445-447)cGa>cAa		wings apart-like homolog (Drosophila)							129.0	122.0	124.0					10																	88277381		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88277381C>T	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.446G>A	10.37:g.88277381C>T	ENSP00000298767:p.Arg149Gln						p.R149Q	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			2	918	-			149			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.446G>A	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417448	0.42918	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.22743	1.94	5.42	5.42	0.78866	.	0.629278	0.14017	N	0.347074	T	0.16428	0.0395	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.48230	0.907;0.553;0.553;0.681	B;B;B;B	0.36666	0.23;0.036;0.036;0.08	T	0.02345	-1.1173	10	0.66056	D	0.02	.	9.5354	0.39220	0.0:0.8386:0.0:0.1614	.	234;149;149;192	Q7Z5K2-3;B2RTX8;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	Q	234;149;234	ENSP00000298767:R149Q	ENSP00000298767:R149Q	R	-	2	0	WAPAL	88267361	0.944000	0.32072	0.369000	0.25952	0.981000	0.71138	2.125000	0.42016	2.550000	0.86006	0.655000	0.94253	CGA		0.368	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		16	51	0	0	0	1	0	16	51				
AKTIP	64400	broad.mit.edu	37	16	53528122	53528122	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:53528122A>C	ENST00000394657.7	-	8	812	c.638T>G	c.(637-639)gTt>gGt	p.V213G	AKTIP_ENST00000300245.4_Missense_Mutation_p.V213G|AKTIP_ENST00000570004.1_Missense_Mutation_p.V213G	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	213					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				ACTGTCAACAACTTTACTTTT	0.348																																						ENST00000300245.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(637-639)gTt>gGt		AKT interacting protein							83.0	81.0	81.0					16																	53528122		2198	4300	6498	SO:0001583	missense	64400				apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	g.chr16:53528122A>C	AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.638T>G	16.37:g.53528122A>C	ENSP00000378152:p.Val213Gly					AKTIP_ENST00000570004.1_Missense_Mutation_p.V213G|AKTIP_ENST00000394657.6_Missense_Mutation_p.V213G	p.V213G			Q9H8T0	AKTIP_HUMAN			9	855	-		all_cancers(37;0.14)	213					Q503B1|Q53H38	Missense_Mutation	SNP	ENST00000394657.7	37	c.638T>G	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675645	0.88445	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	T;T	0.78481	-1.18;-1.18	5.72	5.72	0.89469	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.90752	0.7097	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.987	D	0.92876	0.6319	10	0.87932	D	0	-7.4744	16.2962	0.82776	1.0:0.0:0.0:0.0	.	213;213	Q9H8T0-2;Q9H8T0	.;AKTIP_HUMAN	G	213	ENSP00000378152:V213G;ENSP00000300245:V213G	ENSP00000300245:V213G	V	-	2	0	AKTIP	52085623	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.201000	0.95017	2.304000	0.77564	0.528000	0.53228	GTT		0.348	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476		12	38	0	0	0	1	0	12	38				
L1CAM	3897	broad.mit.edu	37	X	153135092	153135092	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153135092T>C	ENST00000370060.1	-	11	1339	c.1150A>G	c.(1150-1152)Att>Gtt	p.I384V	L1CAM_ENST00000370057.3_Missense_Mutation_p.I384V|L1CAM_ENST00000361699.4_Missense_Mutation_p.I384V|L1CAM_ENST00000538883.1_Missense_Mutation_p.I386V|L1CAM_ENST00000543994.1_Missense_Mutation_p.I386V|L1CAM_ENST00000361981.3_Missense_Mutation_p.I379V|L1CAM_ENST00000370055.1_Missense_Mutation_p.I379V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	384	Ig-like C2-type 4.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACGCTGAATCCGGTACTTC	0.632																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1150-1152)Att>Gtt		L1 cell adhesion molecule							83.0	69.0	74.0					X																	153135092		2202	4298	6500	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135092T>C	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1150A>G	X.37:g.153135092T>C	ENSP00000359077:p.Ile384Val					L1CAM_ENST00000370057.3_Missense_Mutation_p.I384V|L1CAM_ENST00000370055.1_Missense_Mutation_p.I379V|L1CAM_ENST00000543994.1_Missense_Mutation_p.I386V|L1CAM_ENST00000538883.1_Missense_Mutation_p.I386V|L1CAM_ENST00000361699.4_Missense_Mutation_p.I384V|L1CAM_ENST00000361981.3_Missense_Mutation_p.I379V	p.I384V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			11	1339	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		384			Ig-like C2-type 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1150A>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	T	6.328	0.428606	0.11987	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.49	4.35	0.52113	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.301431	0.28778	N	0.014165	T	0.28234	0.0697	N	0.02685	-0.53	0.09310	N	1	B;B;B	0.14438	0.002;0.008;0.01	B;B;B	0.17722	0.002;0.011;0.019	T	0.33624	-0.9861	10	0.02654	T	1	.	5.1958	0.15236	0.0:0.2285:0.0:0.7715	.	379;384;384	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	384;386;384;386;379;379;384	ENSP00000359077:I384V;ENSP00000438430:I386V;ENSP00000359074:I384V;ENSP00000439645:I386V;ENSP00000354712:I379V;ENSP00000359072:I379V;ENSP00000355380:I384V	ENSP00000355380:I384V	I	-	1	0	L1CAM	152788286	0.549000	0.26481	0.057000	0.19452	0.862000	0.49288	1.027000	0.30115	1.826000	0.53198	0.393000	0.25936	ATT		0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		3	32	0	0	0	1	0	3	32				
C2CD3	26005	broad.mit.edu	37	11	73844488	73844488	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:73844488G>T	ENST00000334126.7	-	6	1296	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	C2CD3_ENST00000313663.7_Missense_Mutation_p.S357Y|C2CD3_ENST00000539061.1_Missense_Mutation_p.S357Y			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	357					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCTCTAAGAGAATCTTCATT	0.383																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(1069-1071)tCt>tAt		C2 calcium-dependent domain containing 3							131.0	118.0	122.0					11																	73844488		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73844488G>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1070C>A	11.37:g.73844488G>T	ENSP00000334379:p.Ser357Tyr					C2CD3_ENST00000539061.1_Missense_Mutation_p.S357Y|C2CD3_ENST00000313663.7_Missense_Mutation_p.S357Y	p.S357Y			Q4AC94	C2CD3_HUMAN			6	1296	-	Breast(11;4.16e-06)		357					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1070C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.015|0.015	-1.556480|-1.556480	0.00910|0.00910	.|.	.|.	ENSG00000168014|ENSG00000168014	ENST00000289350|ENST00000334126;ENST00000313663;ENST00000313681;ENST00000539061	.|T;T	.|0.10573	.|2.86;2.86	5.79|5.79	2.57|2.57	0.30868|0.30868	.|.	.|1.115670	.|0.06531	.|N	.|0.741502	T|T	0.05547|0.05547	0.0146|0.0146	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.33919	.|0.138;0.432	.|B;B	.|0.34242	.|0.051;0.178	T|T	0.29027|0.29027	-1.0025|-1.0025	6|10	0.22109|0.02654	T|T	0.4|1	0.0108|0.0108	4.5716|4.5716	0.12212|0.12212	0.4689:0.1642:0.3669:0.0|0.4689:0.1642:0.3669:0.0	.|.	.|357;357	.|Q4AC94;Q4AC94-1	.|C2CD3_HUMAN;.	I|Y	357|357	.|ENSP00000334379:S357Y;ENSP00000323339:S357Y	ENSP00000289350:L357I|ENSP00000323339:S357Y	L|S	-|-	1|2	0|0	C2CD3|C2CD3	73522136|73522136	0.010000|0.010000	0.17322|0.17322	0.035000|0.035000	0.18076|0.18076	0.116000|0.116000	0.19942|0.19942	0.209000|0.209000	0.17435|0.17435	0.231000|0.231000	0.21079|0.21079	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.383	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		5	26	1	0	0.014758	1	0.015099	5	26				
UGT8	7368	broad.mit.edu	37	4	115544196	115544196	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:115544196T>C	ENST00000310836.6	+	2	682	c.160T>C	c.(160-162)Ttc>Ctc	p.F54L	UGT8_ENST00000394511.3_Missense_Mutation_p.F54L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	54					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCATACAGTGTTCCTCCTCTC	0.488																																						ENST00000310836.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(160-162)Ttc>Ctc		UDP glycosyltransferase 8							106.0	95.0	99.0					4																	115544196		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544196T>C	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.160T>C	4.37:g.115544196T>C	ENSP00000311648:p.Phe54Leu					UGT8_ENST00000394511.3_Missense_Mutation_p.F54L	p.F54L	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	682	+		Ovarian(17;0.156)	54					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.160T>C	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	T	8.453	0.853540	0.17106	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.07021	3.23;3.23;3.23	5.3	4.07	0.47477	.	0.096393	0.64402	N	0.000001	T	0.05593	0.0147	N	0.12746	0.255	0.46564	D	0.999103	B	0.02656	0.0	B	0.04013	0.001	T	0.31392	-0.9945	10	0.52906	T	0.07	.	11.5958	0.50972	0.0:0.0715:0.0:0.9284	.	54	Q16880	CGT_HUMAN	L	54	ENSP00000311648:F54L;ENSP00000421446:F54L;ENSP00000378019:F54L	ENSP00000311648:F54L	F	+	1	0	UGT8	115763645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.987000	0.63857	0.914000	0.36822	0.528000	0.53228	TTC		0.488	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		19	54	0	0	0	1	0	19	54				
ZNF133	7692	broad.mit.edu	37	20	18296758	18296758	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:18296758G>T	ENST00000316358.4	+	4	1360	c.1263G>T	c.(1261-1263)caG>caT	p.Q421H	ZNF133_ENST00000401790.1_Missense_Mutation_p.Q421H|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q326H|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q424H|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q358H|ZNF133_ENST00000377671.3_Missense_Mutation_p.Q420H|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q326H	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	421					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCTTCAGCCAGAATTCAACCC	0.562																																						ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1258-1260)caG>caT		zinc finger protein 133							83.0	88.0	86.0					20																	18296758		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18296758G>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1263G>T	20.37:g.18296758G>T	ENSP00000346090:p.Gln421His					ZNF133_ENST00000401790.1_Missense_Mutation_p.Q421H|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q326H|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q326H|ZNF133_ENST00000316358.4_Missense_Mutation_p.Q421H|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q358H|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q424H|ZNF133_ENST00000462170.1_3'UTR	p.Q420H	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN			7	1819	+			421					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.1260G>T		.	.	.	.	.	.	.	.	.	.	G	10.53	1.376323	0.24857	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.07327	5.25;5.25;3.2;5.25;3.2;3.2;5.25	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000259	T	0.08492	0.0211	N	0.25426	0.745	0.29546	N	0.851747	P;P;P;P	0.48764	0.622;0.915;0.618;0.747	B;P;B;B	0.45971	0.181;0.499;0.248;0.238	T	0.14896	-1.0456	10	0.14656	T	0.56	-29.9116	15.7018	0.77547	0.0:0.0:1.0:0.0	.	358;424;421;420	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	H	420;424;358;421;326;326;421	ENSP00000366899:Q420H;ENSP00000400897:Q424H;ENSP00000385279:Q358H;ENSP00000383945:Q421H;ENSP00000442978:Q326H;ENSP00000439427:Q326H;ENSP00000346090:Q421H	ENSP00000346090:Q421H	Q	+	3	2	ZNF133	18244758	0.024000	0.19004	1.000000	0.80357	0.991000	0.79684	0.370000	0.20433	2.837000	0.97791	0.655000	0.94253	CAG		0.562	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		42	81	1	0	6.45866e-13	1	8.20724e-13	42	81				
KCNS2	3788	broad.mit.edu	37	8	99440676	99440676	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99440676G>T	ENST00000287042.4	+	2	819	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	KCNS2_ENST00000521839.1_Missense_Mutation_p.D157Y	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	157					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTCTACAACGACGCCTCCAA	0.612																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(469-471)Gac>Tac		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							71.0	77.0	75.0					8																	99440676		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440676G>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.469G>T	8.37:g.99440676G>T	ENSP00000287042:p.Asp157Tyr					KCNS2_ENST00000521839.1_Missense_Mutation_p.D157Y	p.D157Y	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	819	+	Breast(36;2.4e-06)		157					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.469G>T	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030385	0.75504	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96802	-4.13;-4.13	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	D	0.97660	0.9233	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.98150	1.0441	10	0.62326	D	0.03	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	157	Q9ULS6	KCNS2_HUMAN	Y	157	ENSP00000287042:D157Y;ENSP00000430712:D157Y	ENSP00000287042:D157Y	D	+	1	0	KCNS2	99509852	1.000000	0.71417	0.991000	0.47740	0.954000	0.61252	9.869000	0.99810	2.527000	0.85204	0.563000	0.77884	GAC		0.612	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		31	34	1	0	2.49675e-24	1	3.5028e-24	31	34				
ACSL5	51703	broad.mit.edu	37	10	114169443	114169443	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:114169443G>A	ENST00000393081.1	+	7	1018	c.711G>A	c.(709-711)gaG>gaA	p.E237E	RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000356116.1_Splice_Site_p.E293E|RP11-324O2.3_ENST00000449782.2_RNA|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000433418.1_Splice_Site_p.E237E|ACSL5_ENST00000354655.4_Splice_Site_p.E237E|ACSL5_ENST00000354273.4_Splice_Site_p.E237E|ACSL5_ENST00000369410.3_5'UTR|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	237					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATGATGCTGAGGTATGGATCT	0.468																																						ENST00000393081.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.e7+1		acyl-CoA synthetase long-chain family member 5							144.0	128.0	133.0					10																	114169443		2203	4300	6503	SO:0001630	splice_region_variant	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114169443G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.711+1G>A	10.37:g.114169443G>A						ACSL5_ENST00000354273.4_Splice_Site_p.E237_splice|ACSL5_ENST00000433418.1_Splice_Site_p.E237_splice|ACSL5_ENST00000354655.4_Splice_Site_p.E237_splice|ACSL5_ENST00000369410.3_5'UTR|ACSL5_ENST00000356116.1_Splice_Site_p.E293_splice	p.E237_splice	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	7	1018	+		Colorectal(252;0.117)|Breast(234;0.222)	237					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Splice_Site	SNP	ENST00000393081.1	37	c.711_splice	CCDS7573.1																																																																																				0.468	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234	Silent	30	85	0	0	0	1	0	30	85				
GTF3C2	2976	broad.mit.edu	37	2	27551727	27551727	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27551727C>T	ENST00000359541.2	-	15	2540	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.R704Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	704					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCCTTTTCGAGGAGCAGT	0.403																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(2110-2112)cGa>cAa		general transcription factor IIIC, polypeptide 2, beta 110kDa							63.0	63.0	63.0					2																	27551727		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27551727C>T	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2111G>A	2.37:g.27551727C>T	ENSP00000352536:p.Arg704Gln					GTF3C2_ENST00000264720.3_Missense_Mutation_p.R704Q	p.R704Q			Q8WUA4	TF3C2_HUMAN			15	2540	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		704					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.2111G>A	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.015702|4.015702	0.75161|0.75161	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000454704;ENST00000415683|ENST00000359541;ENST00000264720	.|T;T	.|0.73469	.|-0.75;-0.75	5.5|5.5	5.5|5.5	0.81552|0.81552	.|WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77356|0.77356	0.4118|0.4118	L|L	0.27053|0.27053	0.805|0.805	0.48571|0.48571	D|D	0.999679|0.999679	.|D	.|0.89917	.|1.0	.|D	.|0.66497	.|0.944	T|T	0.73839|0.73839	-0.3856|-0.3856	5|10	.|0.27082	.|T	.|0.32	-8.4625|-8.4625	17.2462|17.2462	0.87029|0.87029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|704	.|Q8WUA4	.|TF3C2_HUMAN	K|Q	213;106|704	.|ENSP00000352536:R704Q;ENSP00000264720:R704Q	.|ENSP00000264720:R704Q	E|R	-|-	1|2	0|0	GTF3C2|GTF3C2	27405231|27405231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.800000|0.800000	0.45204|0.45204	6.682000|6.682000	0.74528|0.74528	2.758000|2.758000	0.94735|0.94735	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.403	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			13	26	0	0	0	1	0	13	26				
ZNF233	353355	broad.mit.edu	37	19	44777266	44777266	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44777266C>A	ENST00000391958.2	+	5	580	c.453C>A	c.(451-453)gtC>gtA	p.V151V	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTAGTCAGGTCTCTGAAGATG	0.418																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(451-453)gtC>gtA		zinc finger protein 233							59.0	61.0	61.0					19																	44777266		2203	4300	6503	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777266C>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.453C>A	19.37:g.44777266C>A						ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron	p.V151V	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	580	+		Prostate(69;0.0435)|all_neural(266;0.226)	151					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.453C>A	CCDS33047.1																																																																																				0.418	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		24	38	1	0	1.85244e-09	1	2.22951e-09	24	38				
BBS7	55212	broad.mit.edu	37	4	122756435	122756435	+	Missense_Mutation	SNP	G	G	A	rs150743868	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122756435G>A	ENST00000264499.4	-	14	1558	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	BBS7_ENST00000506636.1_Missense_Mutation_p.R459C	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	459					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCAATTGAGCGAATCTGATTC	0.358									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1375-1377)Cgc>Tgc		Bardet-Biedl syndrome 7		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	157.0	142.0	147.0		1375,1375	5.4	1.0	4	dbSNP_134	147	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	BBS7	NM_018190.3,NM_176824.2	180,180	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	459/673,459/716	122756435	4,13002	2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122756435G>A	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1375C>T	4.37:g.122756435G>A	ENSP00000264499:p.Arg459Cys					BBS7_ENST00000506636.1_Missense_Mutation_p.R459C	p.R459C	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			14	1558	-			459					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.1375C>T	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278676	0.80692	2.27E-4	3.49E-4	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.78595	-1.19;-1.19	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.89996	0.6877	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.90770	0.4671	10	0.52906	T	0.07	-9.2483	19.2795	0.94046	0.0:0.0:1.0:0.0	.	459	Q8IWZ6	BBS7_HUMAN	C	459	ENSP00000264499:R459C;ENSP00000423626:R459C	ENSP00000264499:R459C	R	-	1	0	BBS7	122975885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.005000	0.70716	2.549000	0.85964	0.650000	0.86243	CGC		0.358	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			21	29	0	0	0	1	0	21	29				
DHRS11	79154	broad.mit.edu	37	17	34958728	34958728	+	IGR	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34958728G>C	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_Intron|MRM1_ENST00000250156.7_Silent_p.L163L	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GGGCTGTGCTGCGTTCCGCAC	0.622																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(487-489)ctG>ctC		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							25.0	24.0	25.0					17																	34958728		2103	4101	6204	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958728G>C		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958728G>C						MRM1_ENST00000585770.1_Intron	p.L163L	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	728	+		Breast(25;0.00957)|Ovarian(249;0.17)	163					B2RDZ3|Q9BUC7|Q9H674	Silent	SNP	ENST00000251312.5	37	c.489G>C	CCDS11315.2																																																																																				0.622	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		23	32	0	0	0	1	0	23	32				
PIWIL3	440822	broad.mit.edu	37	22	25150111	25150111	+	Missense_Mutation	SNP	C	C	T	rs548864243		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:25150111C>T	ENST00000332271.5	-	8	1263	c.847G>A	c.(847-849)Gat>Aat	p.D283N	PIWIL3_ENST00000527701.1_Missense_Mutation_p.D174N|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D174N|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	283					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGCTCACATCGGCACAGAGG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		19050	0.001		0.0	False		,,,				2504	0.0					ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(847-849)Gat>Aat		piwi-like RNA-mediated gene silencing 3							117.0	114.0	115.0					22																	25150111		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25150111C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.847G>A	22.37:g.25150111C>T	ENSP00000330031:p.Asp283Asn					PIWIL3_ENST00000533313.1_Missense_Mutation_p.D174N|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D174N	p.D283N	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			8	1263	-			283						Missense_Mutation	SNP	ENST00000332271.5	37	c.847G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749054	0.49257	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.26373	1.74;1.74;1.74	2.42	2.42	0.29668	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	U	0.000000	T	0.47875	0.1469	M	0.77406	2.37	0.54753	D	0.999983	D;D;D	0.89917	1.0;0.994;0.986	D;P;P	0.77557	0.99;0.854;0.733	T	0.53070	-0.8490	10	0.62326	D	0.03	-13.552	10.9534	0.47343	0.0:1.0:0.0:0.0	.	174;283;283	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	N	283;174;174	ENSP00000330031:D283N;ENSP00000431843:D174N;ENSP00000435718:D174N	ENSP00000330031:D283N	D	-	1	0	PIWIL3	23480111	1.000000	0.71417	0.312000	0.25196	0.495000	0.33615	4.552000	0.60747	1.678000	0.50952	0.462000	0.41574	GAT		0.408	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		17	32	0	0	0	1	0	17	32				
PLPPR5	163404	broad.mit.edu	37	1	99418684	99418684	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99418684C>T	ENST00000263177.4	-	3	784	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	LPPR5_ENST00000370188.3_Missense_Mutation_p.R188Q	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		188						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										AAAGGTTTTTCGGGCTCTCAT	0.418																																						ENST00000370188.3																			0											c.(562-564)cGa>cAa									126.0	113.0	117.0					1																	99418684		2203	4300	6503	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99418684C>T																												ENST00000263177.4:c.563G>A	1.37:g.99418684C>T	ENSP00000263177:p.Arg188Gln					LPPR5_ENST00000263177.4_Missense_Mutation_p.R188Q	p.R188Q	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			3	923	-			188					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.563G>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317109	0.81469	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.75260	-0.92;-0.92	5.16	5.16	0.70880	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	M	0.88031	2.925	0.49389	D	0.999787	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89311	0.3633	10	0.87932	D	0	.	17.9943	0.89178	0.0:1.0:0.0:0.0	.	188;188	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	Q	188	ENSP00000359207:R188Q;ENSP00000263177:R188Q	ENSP00000263177:R188Q	R	-	2	0	AL161744.1	99191272	1.000000	0.71417	0.721000	0.30653	0.314000	0.28054	7.445000	0.80570	2.563000	0.86464	0.655000	0.94253	CGA		0.418	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			23	34	0	0	0	1	0	23	34				
SMC3	9126	broad.mit.edu	37	10	112361580	112361580	+	Nonsense_Mutation	SNP	C	C	T	rs139627416		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:112361580C>T	ENST00000361804.4	+	24	2956	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	944					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.R944*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GAAGAAAATTCGAGAACTTGG	0.368																																						ENST00000361804.4																			1	Substitution - Nonsense(1)	p.R944*(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2830-2832)Cga>Tga		structural maintenance of chromosomes 3							85.0	92.0	90.0					10																	112361580		2201	4300	6501	SO:0001587	stop_gained	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112361580C>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2830C>T	10.37:g.112361580C>T	ENSP00000354720:p.Arg944*						p.R944*	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	24	2956	+		Breast(234;0.0848)|Lung NSC(174;0.238)	944					A8K156|O60464|Q5T482	Nonsense_Mutation	SNP	ENST00000361804.4	37	c.2830C>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	40	7.986500	0.98596	.	.	ENSG00000108055	ENST00000361804	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0664	0.71999	0.1425:0.8575:0.0:0.0	.	.	.	.	X	944	.	ENSP00000354720:R944X	R	+	1	2	SMC3	112351570	0.929000	0.31497	1.000000	0.80357	0.998000	0.95712	1.696000	0.37773	2.663000	0.90544	0.585000	0.79938	CGA		0.368	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		24	57	0	0	0	1	0	24	57				
CNGA3	1261	broad.mit.edu	37	2	99006196	99006196	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99006196C>T	ENST00000272602.2	+	5	564	c.525C>T	c.(523-525)atC>atT	p.I175I	CNGA3_ENST00000436404.2_Silent_p.I157I|CNGA3_ENST00000409937.1_Silent_p.I179I|CNGA3_ENST00000393504.1_Silent_p.I175I			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	175					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGACCGCCATCGCCCTGCCTG	0.557																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(523-525)atC>atT		cyclic nucleotide gated channel alpha 3							120.0	107.0	112.0					2																	99006196		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99006196C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.525C>T	2.37:g.99006196C>T						CNGA3_ENST00000409937.1_Silent_p.I179I|CNGA3_ENST00000436404.2_Silent_p.I157I|CNGA3_ENST00000272602.2_Silent_p.I175I	p.I175I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			6	942	+			175					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.525C>T	CCDS2034.1																																																																																				0.557	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		48	84	0	0	0	1	0	48	84				
ZNF726	730087	broad.mit.edu	37	19	24102284	24102284	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24102284G>T	ENST00000334589.5	+	2	231	c.113G>T	c.(112-114)aGa>aTa	p.R38I	ZNF726_ENST00000525354.2_Missense_Mutation_p.R38I|ZNF726_ENST00000575986.1_Missense_Mutation_p.R38I|ZNF726_ENST00000322487.7_Missense_Mutation_p.R38I|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000531821.2_Missense_Mutation_p.R38I|ZNF726_ENST00000594466.1_Missense_Mutation_p.R38I			A6NNF4	ZN726_HUMAN	zinc finger protein 726	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGAACTACAGAAACCTGGCC	0.353																																						ENST00000594466.1																			0											c.(112-114)aGa>aTa		zinc finger protein 726																																				SO:0001583	missense	730087				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr19:24102284G>T	DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000334589.5:c.113G>T	19.37:g.24102284G>T	ENSP00000334762:p.Arg38Ile					ZNF726_ENST00000531821.2_Missense_Mutation_p.R38I|ZNF726_ENST00000575986.1_Missense_Mutation_p.R38I|ZNF726_ENST00000525354.2_Missense_Mutation_p.R38I|ZNF726_ENST00000334589.5_Missense_Mutation_p.R38I|ZNF726_ENST00000322487.7_Missense_Mutation_p.R38I|CTB-92J24.3_ENST00000596326.1_RNA	p.R38I	NM_001244038.1	NP_001230967.1	E9PLI7	E9PLI7_HUMAN			2	218	+			38					M0R0X8|Q86Y87	Missense_Mutation	SNP	ENST00000334589.5	37	c.113G>T		.	.	.	.	.	.	.	.	.	.	g	6.059	0.379209	0.11466	.	.	ENSG00000213967	ENST00000525354;ENST00000334589;ENST00000531821;ENST00000322487	T;T;T;T	0.02121	4.44;4.44;4.44;4.44	1.14	1.14	0.20703	.	.	.	.	.	T	0.03136	0.0092	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.44050	-0.9353	6	0.62326	D	0.03	.	5.5906	0.17299	0.0:0.0:1.0:0.0	.	.	.	.	I	38	ENSP00000433319:R38I;ENSP00000334762:R38I;ENSP00000432583:R38I;ENSP00000317125:R38I	ENSP00000317125:R38I	R	+	2	0	ZNF726	23894124	0.005000	0.15991	0.038000	0.18304	0.084000	0.17831	-0.179000	0.09768	0.588000	0.29660	0.430000	0.28490	AGA		0.353	ZNF726-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000395815.2	XM_001715134		49	87	1	0	6.08268e-21	1	8.37076e-21	49	87				
TSC22D1	8848	broad.mit.edu	37	13	45148935	45148935	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45148935A>G	ENST00000458659.2	-	1	1766	c.1276T>C	c.(1276-1278)Tgc>Cgc	p.C426R	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Missense_Mutation_p.C426R	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	426					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AACTCAGTGCAAGTCCATCTA	0.403																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1276-1278)Tgc>Cgc		TSC22 domain family, member 1							132.0	126.0	128.0					13																	45148935		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148935A>G	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1276T>C	13.37:g.45148935A>G	ENSP00000397435:p.Cys426Arg					TSC22D1_ENST00000501704.2_Missense_Mutation_p.C426R	p.C426R	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1766	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	426					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1276T>C	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074731	0.55646	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	D	0.91521	-2.86	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000003	D	0.94522	0.8236	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94877	0.8035	10	0.66056	D	0.02	.	13.141	0.59434	1.0:0.0:0.0:0.0	.	426;426	B3KRL7;Q15714	.;T22D1_HUMAN	R	426	ENSP00000397435:C426R	ENSP00000397435:C426R	C	-	1	0	TSC22D1	44046935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	1.985000	0.57927	0.459000	0.35465	TGC		0.403	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		33	48	0	0	0	1	0	33	48				
HEATR6	63897	broad.mit.edu	37	17	58153597	58153597	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58153597T>C	ENST00000184956.6	-	2	237	c.221A>G	c.(220-222)gAc>gGc	p.D74G	HEATR6_ENST00000585976.1_Splice_Site_p.D74G|HEATR6_ENST00000585712.1_5'Flank	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	74							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGCACTAACGTCCTACCAAAA	0.368																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.e2-1		HEAT repeat containing 6							48.0	43.0	45.0					17																	58153597		2203	4300	6503	SO:0001630	splice_region_variant	63897						binding	g.chr17:58153597T>C	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.220-1A>G	17.37:g.58153597T>C						HEATR6_ENST00000585976.1_Splice_Site_p.D74_splice	p.D74_splice	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		2	237	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		74					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Splice_Site	SNP	ENST00000184956.6	37	c.219_splice	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903223	0.33628	.	.	ENSG00000068097	ENST00000184956	T	0.44083	0.93	5.1	5.1	0.69264	Armadillo-like helical (1);	0.148976	0.64402	D	0.000016	T	0.38983	0.1061	L	0.57536	1.79	0.37618	D	0.9212	B	0.28713	0.22	B	0.24541	0.054	T	0.38908	-0.9639	10	0.29301	T	0.29	-9.5935	14.0702	0.64854	0.0:0.0:0.0:1.0	.	74	Q6AI08	HEAT6_HUMAN	G	74	ENSP00000184956:D74G	ENSP00000184956:D74G	D	-	2	0	HEATR6	55508379	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.817000	0.55668	2.068000	0.61886	0.524000	0.50904	GAC		0.368	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	Missense_Mutation	9	22	0	0	0	1	0	9	22				
PTPRC	5788	broad.mit.edu	37	1	198682092	198682092	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:198682092G>A	ENST00000367376.2	+	12	1347	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	PTPRC_ENST00000442510.2_Silent_p.E394E|PTPRC_ENST00000352140.3_Silent_p.E344E|PTPRC_ENST00000594404.1_Silent_p.E231E|PTPRC_ENST00000348564.6_Silent_p.E233E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	392	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTCCAGGAGAGCCTCAGATTA	0.318																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(1174-1176)gaG>gaA		protein tyrosine phosphatase, receptor type, C							94.0	104.0	101.0					1																	198682092		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198682092G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1176G>A	1.37:g.198682092G>A						PTPRC_ENST00000352140.3_Silent_p.E344E|PTPRC_ENST00000594404.1_Silent_p.E231E|PTPRC_ENST00000442510.2_Silent_p.E394E|PTPRC_ENST00000348564.6_Silent_p.E233E	p.E392E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			12	1347	+			392			Fibronectin type-III 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.1176G>A																																																																																					0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	39	0	0	0	1	0	16	39				
PHLPP1	23239	broad.mit.edu	37	18	60646231	60646231	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:60646231C>T	ENST00000262719.5	+	17	4955	c.4721C>T	c.(4720-4722)gCc>gTc	p.A1574V	PHLPP1_ENST00000400316.4_Missense_Mutation_p.A1062V			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1574					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TGCAGCCGGGCCAAGGAGAAG	0.622																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3184-3186)gCc>gTc		PH domain and leucine rich repeat protein phosphatase 1							28.0	33.0	31.0					18																	60646231		2101	4208	6309	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646231C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4721C>T	18.37:g.60646231C>T	ENSP00000262719:p.Ala1574Val					PHLPP1_ENST00000262719.5_Missense_Mutation_p.A1574V	p.A1062V	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4966	+			1574	L -> F (in Ref. 4; AAH47653).				A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.3185C>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222464	0.58668	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.26957	1.85;1.7	4.18	4.18	0.49190	.	.	.	.	.	T	0.21307	0.0513	L	0.36672	1.1	0.42849	D	0.994071	P	0.49090	0.919	B	0.37550	0.253	T	0.15178	-1.0446	9	0.66056	D	0.02	-8.4115	16.6946	0.85332	0.0:1.0:0.0:0.0	.	1574	O60346	PHLP1_HUMAN	V	1062;1574	ENSP00000383170:A1062V;ENSP00000262719:A1574V	ENSP00000262719:A1574V	A	+	2	0	PHLPP1	58797211	0.998000	0.40836	0.932000	0.37286	0.960000	0.62799	4.181000	0.58303	2.173000	0.68751	0.561000	0.74099	GCC		0.622	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		10	17	0	0	0	1	0	10	17				
PRSS42	339906	broad.mit.edu	37	3	46874577	46874577	+	Missense_Mutation	SNP	C	C	T	rs374184659		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46874577C>T	ENST00000429665.1	-	3	490	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	PRSS42_ENST00000447340.1_Missense_Mutation_p.R60Q	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AAGGTCATTTCGAATGGTTGT	0.458																																						ENST00000447340.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						c.(178-180)cGa>cAa		protease, serine, 42		C	GLN/ARG	0,3960		0,0,1980	137.0	139.0	138.0		491	-9.1	0.0	3		138	1,8319		0,1,4159	no	missense	PRSS42	NM_182702.1	43	0,1,6139	TT,TC,CC		0.012,0.0,0.0081	benign	164/294	46874577	1,12279	1980	4160	6140	SO:0001583	missense	339906				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:46874577C>T		CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"""Serine peptidases / Serine peptidases"""	30716	protein-coding gene	gene with protein product	"""testis serine protease 2"""					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.491G>A	3.37:g.46874577C>T	ENSP00000401701:p.Arg164Gln					PRSS42_ENST00000429665.1_Missense_Mutation_p.R164Q	p.R60Q			Q7Z5A4	PRS42_HUMAN			2	232	-			164						Missense_Mutation	SNP	ENST00000429665.1	37	c.179G>A	CCDS46816.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750404	0.15778	0.0	1.2E-4	ENSG00000178055	ENST00000447340;ENST00000429665	D;D	0.88277	-2.36;-2.36	4.53	-9.07	0.00724	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.125170	0.02489	N	0.089288	T	0.77698	0.4169	L	0.28504	0.86	0.09310	N	1	B;B	0.15930	0.015;0.001	B;B	0.16289	0.015;0.002	T	0.64922	-0.6293	10	0.12430	T	0.62	.	6.9271	0.24422	0.2428:0.4939:0.0:0.2633	.	164;60	Q7Z5A4;C9JX34	PRS42_HUMAN;.	Q	60;164	ENSP00000401581:R60Q;ENSP00000401701:R164Q	ENSP00000401701:R164Q	R	-	2	0	PRSS42	46849581	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.081000	0.03403	-1.610000	0.01583	-0.431000	0.05894	CGA		0.458	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344347.1	NM_182702		26	39	0	0	0	1	0	26	39				
ZNF716	441234	broad.mit.edu	37	7	57529030	57529030	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:57529030G>T	ENST00000420713.1	+	4	975	c.863G>T	c.(862-864)aGa>aTa	p.R288I		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						AACTACAAGAGAATTCATACT	0.408																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(862-864)aGa>aTa		zinc finger protein 716							38.0	39.0	39.0					7																	57529030		692	1591	2283	SO:0001583	missense	441234							g.chr7:57529030G>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.863G>T	7.37:g.57529030G>T	ENSP00000394248:p.Arg288Ile						p.R288I	NM_001159279.1	NP_001152751.1					4	975	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.863G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	0.668	-0.802917	0.02841	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.02446	4.29	0.118	-0.237	0.13061	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04543	0.0124	M	0.83603	2.65	0.28985	N	0.888425	B	0.15141	0.012	B	0.10450	0.005	T	0.39143	-0.9628	9	0.25751	T	0.34	.	3.8038	0.08768	0.6553:0.0:0.3447:0.0	.	276	A6NP11	ZN716_HUMAN	I	288;276	ENSP00000394248:R288I	ENSP00000387687:R276I	R	+	2	0	ZNF716	57532972	0.001000	0.12720	0.003000	0.11579	0.003000	0.03518	0.543000	0.23237	-1.064000	0.03172	-1.050000	0.02344	AGA		0.408	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		22	10	1	0	1.2644e-06	1	1.4261e-06	22	10				
DUSP10	11221	broad.mit.edu	37	1	221879708	221879708	+	Silent	SNP	C	C	T	rs373881838		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:221879708C>T	ENST00000366899.3	-	3	1150	c.912G>A	c.(910-912)tcG>tcA	p.S304S	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000544095.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	304					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTAGCAAGCTCGAGGCCGCGG	0.592																																						ENST00000366899.3																			0				NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(910-912)tcG>tcA		dual specificity phosphatase 10							77.0	85.0	82.0					1																	221879708		2203	4300	6503	SO:0001819	synonymous_variant	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221879708C>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.912G>A	1.37:g.221879708C>T						DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR	p.S304S	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	3	1150	-			304					D3DTB4|Q6GSI4|Q9H9Z5	Silent	SNP	ENST00000366899.3	37	c.912G>A	CCDS1528.1																																																																																				0.592	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		50	98	0	0	0	1	0	50	98				
NFATC2	4773	broad.mit.edu	37	20	50092097	50092097	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:50092097C>T	ENST00000396009.3	-	4	1652	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	NFATC2_ENST00000609507.1_Missense_Mutation_p.R259Q|NFATC2_ENST00000610033.1_Missense_Mutation_p.R259Q|NFATC2_ENST00000371564.3_Missense_Mutation_p.R478Q|NFATC2_ENST00000609943.1_Missense_Mutation_p.R458Q|NFATC2_ENST00000414705.1_Missense_Mutation_p.R458Q	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	478	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCCCGTGATTCGGTGCACCTG	0.522																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1432-1434)cGa>cAa		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							210.0	198.0	202.0					20																	50092097		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50092097C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1433G>A	20.37:g.50092097C>T	ENSP00000379330:p.Arg478Gln					NFATC2_ENST00000396009.3_Missense_Mutation_p.R478Q|NFATC2_ENST00000414705.1_Missense_Mutation_p.R458Q	p.R478Q	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			4	1652	-	Hepatocellular(150;0.248)		478			RHD.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1433G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264770	0.95399	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.47177	0.85;0.85;0.85	5.26	5.26	0.73747	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.74366	0.3707	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.99;0.999;0.999	T	0.79633	-0.1722	10	0.87932	D	0	-21.9019	18.8809	0.92356	0.0:1.0:0.0:0.0	.	458;458;478;478	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	Q	478;478;259;458	ENSP00000360619:R478Q;ENSP00000379330:R478Q;ENSP00000396471:R458Q	ENSP00000360619:R478Q	R	-	2	0	NFATC2	49525504	1.000000	0.71417	0.994000	0.49952	0.728000	0.41692	7.711000	0.84669	2.448000	0.82819	0.650000	0.86243	CGA		0.522	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		45	78	0	0	0	1	0	45	78				
RP11-85G18.6	0	broad.mit.edu	37	10	27535116	27535116	+	lincRNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27535116T>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTAGATGACTTCTTGTGCAGC	0.493																																						ENST00000574842.1																			0																																																			0							g.chr10:27535116T>G																													10.37:g.27535116T>G														0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.493	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			10	26	0	0	0	1	0	10	26				
ZCCHC11	23318	broad.mit.edu	37	1	52981573	52981573	+	Missense_Mutation	SNP	C	C	T	rs200996250		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52981573C>T	ENST00000371544.3	-	3	1134	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.R291Q|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R291Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	291					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						TTTTTCAAGTCGAAAGATGTG	0.363																																						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.(871-873)cGa>cAa		zinc finger, CCHC domain containing 11							127.0	117.0	121.0					1																	52981573		2202	4300	6502	SO:0001583	missense	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.chr1:52981573C>T	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.872G>A	1.37:g.52981573C>T	ENSP00000360599:p.Arg291Gln					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R291Q|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.R291Q	p.R291Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			3	1134	-			291					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.872G>A	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289613	0.95546	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723;ENST00000355809	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.60728	0.2291	M	0.76328	2.33	0.42735	D	0.993724	D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;0.999	P;D;D;D;P	0.97110	0.517;0.997;0.989;1.0;0.778	T	0.56817	-0.7916	10	0.23302	T	0.38	.	18.8694	0.92306	0.0:1.0:0.0:0.0	.	50;291;291;291;291	E9PKX1;E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;.;TUT4_HUMAN	Q	291;291;291;50;291	ENSP00000257177:R291Q;ENSP00000360599:R291Q;ENSP00000433486:R291Q;ENSP00000435256:R50Q	ENSP00000257177:R291Q	R	-	2	0	ZCCHC11	52754161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.919000	0.70005	2.474000	0.83562	0.655000	0.94253	CGA		0.363	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		24	43	0	0	0	1	0	24	43				
GCC2	9648	broad.mit.edu	37	2	109098819	109098819	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109098819A>G	ENST00000309863.6	+	11	3971	c.3257A>G	c.(3256-3258)gAa>gGa	p.E1086G		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1086					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAATTATTAGAAGTACAGATT	0.328																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3256-3258)gAa>gGa		GRIP and coiled-coil domain containing 2							66.0	67.0	67.0					2																	109098819		2203	4296	6499	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109098819A>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3257A>G	2.37:g.109098819A>G	ENSP00000307939:p.Glu1086Gly						p.E1086G	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			11	3971	+			1086					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3257A>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454942	0.63290	.	.	ENSG00000135968	ENST00000309863	T	0.42131	0.98	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.65975	2.015	0.48762	D	0.999709	B	0.30851	0.297	B	0.33890	0.172	T	0.38779	-0.9645	10	0.36615	T	0.2	.	13.6724	0.62434	1.0:0.0:0.0:0.0	.	1086	Q8IWJ2	GCC2_HUMAN	G	1086	ENSP00000307939:E1086G	ENSP00000307939:E1086G	E	+	2	0	GCC2	108465251	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.216000	0.77974	1.974000	0.57490	0.397000	0.26171	GAA		0.328	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		17	28	0	0	0	1	0	17	28				
GPR39	2863	broad.mit.edu	37	2	133402871	133402871	+	Missense_Mutation	SNP	C	C	T	rs575186714		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:133402871C>T	ENST00000329321.3	+	2	1523	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	352					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAGCAGTTTCGGCGGGTGTT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15216	0.0		0.0	False		,,,				2504	0.0					ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1054-1056)Cgg>Tgg		G protein-coupled receptor 39							79.0	73.0	75.0					2																	133402871		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402871C>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1054C>T	2.37:g.133402871C>T	ENSP00000327417:p.Arg352Trp					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.R352W	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1523	+			352					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1054C>T	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934938	0.92458	.	.	ENSG00000183840	ENST00000329321	T	0.58358	0.34	5.3	5.3	0.74995	.	0.059465	0.64402	D	0.000004	T	0.73289	0.3568	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75379	-0.3338	10	0.87932	D	0	.	19.1953	0.93686	0.0:1.0:0.0:0.0	.	352	O43194	GPR39_HUMAN	W	352	ENSP00000327417:R352W	ENSP00000327417:R352W	R	+	1	2	GPR39	133119341	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.947000	0.49058	2.772000	0.95346	0.650000	0.86243	CGG		0.632	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			21	48	0	0	0	1	0	21	48				
HTATSF1	27336	broad.mit.edu	37	X	135593733	135593733	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135593733T>C	ENST00000218364.4	+	9	2003	c.1829T>C	c.(1828-1830)gTg>gCg	p.V610A	HTATSF1_ENST00000535601.1_Missense_Mutation_p.V610A	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	610	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TCTGAAAAAGTGTTAGATGAG	0.373																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(1828-1830)gTg>gCg		HIV-1 Tat specific factor 1							71.0	75.0	74.0					X																	135593733		2202	4296	6498	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593733T>C	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1829T>C	X.37:g.135593733T>C	ENSP00000218364:p.Val610Ala					HTATSF1_ENST00000218364.4_Missense_Mutation_p.V610A	p.V610A	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	2251	+	Acute lymphoblastic leukemia(192;0.000127)		610			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1829T>C	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464203	0.26335	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.03951	3.75;3.75	4.64	0.655	0.17839	.	1.016880	0.07860	N	0.966176	T	0.03959	0.0111	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.44236	-0.9341	10	0.87932	D	0	-2.6199	7.2615	0.26205	0.0:0.3607:0.0:0.6393	.	610	O43719	HTSF1_HUMAN	A	610	ENSP00000442699:V610A;ENSP00000218364:V610A	ENSP00000218364:V610A	V	+	2	0	HTATSF1	135421399	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-0.145000	0.10265	-0.006000	0.14370	0.425000	0.28330	GTG		0.373	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		5	95	0	0	0	1	0	5	95				
TSHZ3	57616	broad.mit.edu	37	19	31769642	31769642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31769642G>A	ENST00000240587.4	-	2	1384	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	353					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAGTTCTTCTGAAGTGCATCG	0.562																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1057-1059)Cag>Tag		teashirt zinc finger homeobox 3							280.0	265.0	270.0					19																	31769642		2203	4300	6503	SO:0001587	stop_gained	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769642G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1057C>T	19.37:g.31769642G>A	ENSP00000240587:p.Gln353*						p.Q353*	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1384	-	Esophageal squamous(110;0.226)		353					Q9H0G6|Q9P254	Nonsense_Mutation	SNP	ENST00000240587.4	37	c.1057C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441611	0.83993	.	.	ENSG00000121297	ENST00000240587	.	.	.	5.31	5.31	0.75309	.	0.118294	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-23.9686	18.9894	0.92784	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000240587:Q353X	Q	-	1	0	TSHZ3	36461482	1.000000	0.71417	0.933000	0.37362	0.186000	0.23388	9.441000	0.97557	2.468000	0.83385	0.655000	0.94253	CAG		0.562	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		15	181	0	0	0	1	0	15	181				
HR	55806	broad.mit.edu	37	8	21977295	21977295	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:21977295C>A	ENST00000381418.4	-	14	4435	c.2955G>T	c.(2953-2955)gaG>gaT	p.E985D	HR_ENST00000312841.8_Missense_Mutation_p.E985D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	985	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGAGCTGGGGCTCCAGTGGAC	0.627																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(2953-2955)gaG>gaT		hair growth associated							56.0	57.0	56.0					8																	21977295		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21977295C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2955G>T	8.37:g.21977295C>A	ENSP00000370826:p.Glu985Asp					HR_ENST00000312841.8_Missense_Mutation_p.E985D	p.E985D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	14	4435	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	985			JmjC.		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.2955G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488636	0.26686	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.76186	-1.0;-1.0	4.62	3.7	0.42460	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.133754	0.34133	N	0.004230	T	0.61451	0.2348	L	0.36672	1.1	0.31978	N	0.606201	P;P	0.42692	0.787;0.501	B;B	0.39379	0.298;0.081	T	0.67868	-0.5559	10	0.51188	T	0.08	-10.9959	7.251	0.26150	0.0:0.8698:0.0:0.1302	.	985;985	O43593-2;O43593	.;HAIR_HUMAN	D	985	ENSP00000370826:E985D;ENSP00000326765:E985D	ENSP00000326765:E985D	E	-	3	2	HR	22033240	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	0.569000	0.23638	1.084000	0.41184	0.313000	0.20887	GAG		0.627	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			5	53	1	0	0.014758	1	0.015099	5	53				
SULF1	23213	broad.mit.edu	37	8	70515435	70515435	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:70515435A>C	ENST00000260128.4	+	11	1787	c.1070A>C	c.(1069-1071)cAg>cCg	p.Q357P	SULF1_ENST00000458141.2_Missense_Mutation_p.Q357P|SULF1_ENST00000419716.3_Missense_Mutation_p.Q357P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.Q357P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	357					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGAGTCCCACAGATCGTTCTC	0.542																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1069-1071)cAg>cCg		sulfatase 1							235.0	204.0	215.0					8																	70515435		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70515435A>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1070A>C	8.37:g.70515435A>C	ENSP00000260128:p.Gln357Pro					SULF1_ENST00000458141.2_Missense_Mutation_p.Q357P|SULF1_ENST00000419716.3_Missense_Mutation_p.Q357P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.Q357P	p.Q357P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		11	1787	+	Breast(64;0.0654)		357					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1070A>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584273	0.86748	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	6.17	6.17	0.99709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.049512	0.85682	D	0.000000	D	0.97673	0.9237	L	0.53617	1.68	0.80722	D	1	B	0.22146	0.065	B	0.32393	0.145	D	0.96001	0.8993	10	0.48119	T	0.1	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	357	Q8IWU6	SULF1_HUMAN	P	357	ENSP00000403040:Q357P;ENSP00000260128:Q357P;ENSP00000385704:Q357P;ENSP00000390315:Q357P	ENSP00000260128:Q357P	Q	+	2	0	SULF1	70677989	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	CAG		0.542	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		68	139	0	0	0	1	0	68	139				
CCNB3	85417	broad.mit.edu	37	X	50053473	50053473	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50053473G>T	ENST00000376042.1	+	6	2602	c.2304G>T	c.(2302-2304)ttG>ttT	p.L768F	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.L768F|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	768					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTTGGCTTTGAATGAGACCA	0.458																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2302-2304)ttG>ttT		cyclin B3							28.0	24.0	25.0					X																	50053473		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053473G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2304G>T	X.37:g.50053473G>T	ENSP00000365210:p.Leu768Phe					CCNB3_ENST00000276014.7_Missense_Mutation_p.L768F|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron	p.L768F			Q8WWL7	CCNB3_HUMAN			6	2602	+	Ovarian(276;0.236)		768					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2304G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011958	0.35511	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.37058	1.22;1.22	4.19	2.36	0.29203	.	.	.	.	.	T	0.32912	0.0845	M	0.63843	1.955	0.09310	N	1	P	0.41673	0.759	B	0.40565	0.333	T	0.17961	-1.0352	8	.	.	.	.	4.7164	0.12898	0.1237:0.2195:0.6568:0.0	.	768	Q8WWL7	CCNB3_HUMAN	F	768	ENSP00000365210:L768F;ENSP00000276014:L768F	.	L	+	3	2	CCNB3	50070213	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.105000	0.15333	0.500000	0.27991	0.600000	0.82982	TTG		0.458	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			6	15	1	0	3.59834e-05	1	3.93264e-05	6	15				
SLC9B1	150159	broad.mit.edu	37	4	103867923	103867923	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:103867923T>C	ENST00000296422.7	-	5	547	c.406A>G	c.(406-408)Att>Gtt	p.I136V	SLC9B1_ENST00000394789.3_Missense_Mutation_p.I136V	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	136					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ACATTCCTAATCGTAAAACCA	0.333																																						ENST00000296422.7																			0											c.(406-408)Att>Gtt		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							53.0	53.0	53.0					4																	103867923		2203	4298	6501	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103867923T>C	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.406A>G	4.37:g.103867923T>C	ENSP00000296422:p.Ile136Val					SLC9B1_ENST00000394789.3_Missense_Mutation_p.I136V	p.I136V	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN			5	547	-			136					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.406A>G	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828169	0.32329	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340;ENST00000452285	T;T;T	0.14766	2.48;2.48;2.48	4.25	-4.1	0.03940	.	0.230683	0.33591	N	0.004741	T	0.09113	0.0225	L	0.38175	1.15	0.09310	N	1	B;B	0.22146	0.02;0.065	B;B	0.30716	0.119;0.03	T	0.23833	-1.0177	10	0.51188	T	0.08	-29.1104	6.1507	0.20310	0.0:0.3416:0.2554:0.4029	.	136;136	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	V	136;136;79;136	ENSP00000378269:I136V;ENSP00000296422:I136V;ENSP00000426056:I79V	ENSP00000296422:I136V	I	-	1	0	SLC9B1	104087372	0.035000	0.19736	0.001000	0.08648	0.539000	0.34962	-0.076000	0.11412	-0.345000	0.08325	-0.361000	0.07541	ATT		0.333	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		9	16	0	0	0	1	0	9	16				
FSIP2	401024	broad.mit.edu	37	2	186672466	186672466	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:186672466G>A	ENST00000424728.1	+	17	18433	c.18433G>A	c.(18433-18435)Gaa>Aaa	p.E6145K	FSIP2_ENST00000343098.5_Missense_Mutation_p.E6234K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6145										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCAGTGTGTGGAAGTTGAAAA	0.398																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18700-18702)Gaa>Aaa		fibrous sheath interacting protein 2							91.0	77.0	81.0					2																	186672466		1862	4102	5964	SO:0001583	missense	401024							g.chr2:186672466G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18433G>A	2.37:g.186672466G>A	ENSP00000401306:p.Glu6145Lys					FSIP2_ENST00000424728.1_Missense_Mutation_p.E6145K	p.E6234K	NM_173651.2	NP_775922.2					17	18700	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18700G>A		.	.	.	.	.	.	.	.	.	.	G	14.92	2.680130	0.47886	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.62105	0.05;0.06	5.11	4.23	0.50019	.	0.108055	0.41396	D	0.000889	T	0.56934	0.2019	L	0.38175	1.15	0.29090	N	0.882133	.	.	.	.	.	.	T	0.58515	-0.7623	8	0.62326	D	0.03	.	9.3744	0.38275	0.0967:0.0:0.9033:0.0	.	.	.	.	K	6234;6145	ENSP00000344403:E6234K;ENSP00000401306:E6145K	ENSP00000344403:E6234K	E	+	1	0	FSIP2	186380711	1.000000	0.71417	0.569000	0.28460	0.287000	0.27160	3.257000	0.51500	1.385000	0.46445	0.591000	0.81541	GAA		0.398	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		8	54	0	0	0	1	0	8	54				
POLQ	10721	broad.mit.edu	37	3	121207791	121207791	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121207791C>A	ENST00000264233.5	-	16	4115	c.3987G>T	c.(3985-3987)gaG>gaT	p.E1329D		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1329					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTATTATTTTCTCTGACTGAG	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3985-3987)gaG>gaT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							166.0	149.0	155.0					3																	121207791		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207791C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3987G>T	3.37:g.121207791C>A	ENSP00000264233:p.Glu1329Asp						p.E1329D	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4115	-			1329					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3987G>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721581	0.68959	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.57107	0.42	6.11	1.08	0.20341	.	0.102413	0.64402	N	0.000004	T	0.55513	0.1925	L	0.36672	1.1	0.27846	N	0.940918	D;D	0.89917	0.999;1.0	P;D	0.83275	0.88;0.996	T	0.48410	-0.9038	10	0.62326	D	0.03	.	5.4042	0.16312	0.3368:0.4752:0.0:0.188	.	1329;501	O75417;O75417-2	DPOLQ_HUMAN;.	D	952;1329;1465	ENSP00000264233:E1329D	ENSP00000264233:E1329D	E	-	3	2	POLQ	122690481	1.000000	0.71417	0.979000	0.43373	0.825000	0.46686	0.733000	0.26087	-0.084000	0.12595	-0.181000	0.13052	GAG		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		23	37	1	0	1.55795e-14	1	2.03067e-14	23	37				
PDE3A	5139	broad.mit.edu	37	12	20801671	20801671	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:20801671C>A	ENST00000359062.3	+	13	2655	c.2615C>A	c.(2614-2616)gCt>gAt	p.A872D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	872	Catalytic. {ECO:0000250}.|Poly-Ala.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CACGCAGCTGCTGCATGGAAT	0.378																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2614-2616)gCt>gAt		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						160.0	151.0	154.0					12																	20801671		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801671C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2615C>A	12.37:g.20801671C>A	ENSP00000351957:p.Ala872Asp					PDE3A_ENST00000544307.1_3'UTR	p.A872D	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			13	2655	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	872			Catalytic (By similarity).|Poly-Ala.		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2615C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095485	0.94197	.	.	ENSG00000172572	ENST00000359062	T	0.77750	-1.12	5.76	5.76	0.90799	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.115698	0.64402	D	0.000010	D	0.90403	0.6996	M	0.89414	3.03	0.58432	D	0.999996	D	0.76494	0.999	D	0.72625	0.978	D	0.91440	0.5173	10	0.87932	D	0	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	872	Q14432	PDE3A_HUMAN	D	872	ENSP00000351957:A872D	ENSP00000351957:A872D	A	+	2	0	PDE3A	20692938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	2.722000	0.93159	0.650000	0.86243	GCT		0.378	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			21	48	1	0	2.98393e-07	1	3.42142e-07	21	48				
CASC1	55259	broad.mit.edu	37	12	25299943	25299943	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25299943C>T	ENST00000320267.9	-	7	744	c.663G>A	c.(661-663)aaG>aaA	p.K221K	CASC1_ENST00000395990.2_Silent_p.K181K|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000354189.5_Silent_p.K285K|CASC1_ENST00000537577.1_Silent_p.K109K|CASC1_ENST00000395987.3_Silent_p.K227K|CASC1_ENST00000545133.1_Silent_p.K162K	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	221										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ACCTTGGATTCTTCTTGAGGT	0.418																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(853-855)aaG>aaA		cancer susceptibility candidate 1							168.0	152.0	157.0					12																	25299943		2203	4300	6503	SO:0001819	synonymous_variant	55259							g.chr12:25299943C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.663G>A	12.37:g.25299943C>T						CASC1_ENST00000395990.2_Silent_p.K181K|CASC1_ENST00000320267.9_Silent_p.K221K|CASC1_ENST00000537577.1_Silent_p.K109K|CASC1_ENST00000395987.3_Silent_p.K227K|CASC1_ENST00000545133.1_Silent_p.K162K|CASC1_ENST00000557684.1_5'UTR	p.K285K	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		8	890	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		221					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	c.855G>A	CCDS41762.1																																																																																				0.418	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		22	39	0	0	0	1	0	22	39				
CLDN20	49861	broad.mit.edu	37	6	155597436	155597436	+	Missense_Mutation	SNP	G	G	A	rs538851441	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155597436G>A	ENST00000367165.3	+	2	963	c.583G>A	c.(583-585)Gac>Aac	p.D195N	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	195					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		AGCTAGACTCGACCCACCCAC	0.408													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18322	0.0		0.0	False		,,,				2504	0.002					ENST00000367165.3																			0				endometrium(1)|lung(2)	3						c.(583-585)Gac>Aac		claudin 20							57.0	54.0	55.0					6																	155597436		2201	4292	6493	SO:0001583	missense	49861				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr6:155597436G>A	BC020838	CCDS5249.1	6q25	2008-08-01			ENSG00000171217	ENSG00000171217		"""Claudins"""	2042	protein-coding gene	gene with protein product						16836752	Standard	NM_001001346		Approved		uc003qql.2	P56880	OTTHUMG00000015882	ENST00000367165.3:c.583G>A	6.37:g.155597436G>A	ENSP00000356133:p.Asp195Asn					TFB1M_ENST00000367166.4_Intron	p.D195N	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)	2	963	+			195						Missense_Mutation	SNP	ENST00000367165.3	37	c.583G>A	CCDS5249.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531812	0.27387	.	.	ENSG00000171217	ENST00000367165	D	0.84070	-1.8	5.71	-11.4	0.00090	.	2.408470	0.01130	N	0.005973	T	0.29321	0.0730	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40365	-0.9567	10	0.09843	T	0.71	.	4.6203	0.12447	0.1656:0.4671:0.1729:0.1944	.	195	P56880	CLD20_HUMAN	N	195	ENSP00000356133:D195N	ENSP00000356133:D195N	D	+	1	0	CLDN20	155639128	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.209000	0.09358	-3.584000	0.00137	-1.461000	0.01025	GAC		0.408	CLDN20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042818.1	NM_001001346		18	39	0	0	0	1	0	18	39				
LPHN2	23266	broad.mit.edu	37	1	82447575	82447575	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:82447575C>T	ENST00000370728.1	+	21	3830	c.3185C>T	c.(3184-3186)aCt>aTt	p.T1062I	LPHN2_ENST00000359929.3_Missense_Mutation_p.T1049I|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000335786.5_Missense_Mutation_p.T1062I|LPHN2_ENST00000370730.1_Missense_Mutation_p.T1062I|LPHN2_ENST00000370721.1_Missense_Mutation_p.T987I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1077I|LPHN2_ENST00000370727.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000370713.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000370715.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000271029.4_Missense_Mutation_p.T1077I|LPHN2_ENST00000319517.6_Missense_Mutation_p.T1049I|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1064I			O95490	LPHN2_HUMAN	latrophilin 2	1062					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGAGGAGACTATTGTGATG	0.398																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3184-3186)aCt>aTt		latrophilin 2							187.0	187.0	187.0					1																	82447575		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82447575C>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3185C>T	1.37:g.82447575C>T	ENSP00000359763:p.Thr1062Ile					LPHN2_ENST00000359929.3_Missense_Mutation_p.T1049I|LPHN2_ENST00000271029.4_Missense_Mutation_p.T1077I|LPHN2_ENST00000335786.5_Missense_Mutation_p.T1062I|LPHN2_ENST00000370727.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000370730.1_Missense_Mutation_p.T1062I|LPHN2_ENST00000370713.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000370715.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1077I|LPHN2_ENST00000319517.6_Missense_Mutation_p.T1049I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000370721.1_Missense_Mutation_p.T987I	p.T1062I			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	21	3830	+			1062					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3185C>T		.	.	.	.	.	.	.	.	.	.	C	19.25	3.790874	0.70452	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.056789	0.64402	D	0.000001	T	0.53190	0.1781	M	0.64080	1.96	0.58432	D	0.999998	P;D;P;D	0.55800	0.956;0.973;0.89;0.973	P;P;P;P	0.57720	0.826;0.802;0.466;0.733	T	0.55379	-0.8150	10	0.87932	D	0	.	19.9253	0.97100	0.0:1.0:0.0:0.0	.	1062;1049;1049;1049	O95490;O95490-3;O95490-4;O95490-2	LPHN2_HUMAN;.;.;.	I	987;1062;1062;1077;1077;1064;1049;1049;1049;1049;1077;1064;1077;1062	ENSP00000359756:T987I;ENSP00000359763:T1062I;ENSP00000359765:T1062I;ENSP00000359762:T1077I;ENSP00000359760:T1077I;ENSP00000359758:T1064I;ENSP00000353006:T1049I;ENSP00000359750:T1049I;ENSP00000359748:T1049I;ENSP00000322270:T1049I;ENSP00000359752:T1077I;ENSP00000378344:T1064I;ENSP00000271029:T1077I;ENSP00000337306:T1062I	ENSP00000271029:T1077I	T	+	2	0	LPHN2	82220163	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.692000	0.91855	0.650000	0.86243	ACT		0.398	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		40	78	0	0	0	1	0	40	78				
CHEK2	11200	broad.mit.edu	37	22	29091232	29091232	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29091232T>G	ENST00000405598.1	-	13	1451		c.e13-2		CHEK2_ENST00000382566.1_Splice_Site|CHEK2_ENST00000348295.3_Splice_Site|CHEK2_ENST00000544772.1_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site|CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Splice_Site|CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Splice_Site			O96017	CHK2_HUMAN	checkpoint kinase 2						cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCACTAAGGCTTAATATTGGT	0.388			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.e13-2	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							39.0	36.0	37.0					22																	29091232		2202	4300	6502	SO:0001630	splice_region_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091232T>G	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1260-2A>C	22.37:g.29091232T>G						CHEK2_ENST00000382566.1_Splice_Site|CHEK2_ENST00000402731.1_Splice_Site|CHEK2_ENST00000404276.1_Splice_Site|CHEK2_ENST00000348295.3_Splice_Site|CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000405598.1_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site|CHEK2_ENST00000382565.1_Intron		NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			13	2033	-								A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Splice_Site	SNP	ENST00000405598.1	37		CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174262	0.78452	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3347	0.74241	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHEK2	27421232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.982000	0.63825	2.217000	0.71921	0.528000	0.53228	.		0.388	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	Intron	7	10	0	0	0	1	0	7	10				
TEX15	56154	broad.mit.edu	37	8	30701595	30701595	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30701595A>C	ENST00000256246.2	-	1	5013	c.4939T>G	c.(4939-4941)Ttt>Gtt	p.F1647V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1647					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTTCCACAAATAAAGGGAGA	0.353																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4939-4941)Ttt>Gtt		testis expressed 15							51.0	53.0	52.0					8																	30701595		2202	4300	6502	SO:0001583	missense	56154							g.chr8:30701595A>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4939T>G	8.37:g.30701595A>C	ENSP00000256246:p.Phe1647Val						p.F1647V	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5013	-			1647						Missense_Mutation	SNP	ENST00000256246.2	37	c.4939T>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424317	0.62733	.	.	ENSG00000133863	ENST00000256246	T	0.28255	1.62	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000009	T	0.53916	0.1826	M	0.63843	1.955	0.51767	D	0.999933	D	0.89917	1.0	D	0.97110	1.0	T	0.56123	-0.8031	10	0.87932	D	0	.	15.3352	0.74247	1.0:0.0:0.0:0.0	.	1647	Q9BXT5	TEX15_HUMAN	V	1647	ENSP00000256246:F1647V	ENSP00000256246:F1647V	F	-	1	0	TEX15	30821137	0.998000	0.40836	0.960000	0.40013	0.785000	0.44390	4.356000	0.59430	2.255000	0.74692	0.533000	0.62120	TTT		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			12	26	0	0	0	1	0	12	26				
TGM4	7047	broad.mit.edu	37	3	44948523	44948523	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44948523C>A	ENST00000296125.4	+	10	1226	c.1158C>A	c.(1156-1158)ttC>ttA	p.F386L		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	386					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GATTCGTCTTCTCAGAAGTGA	0.507																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1156-1158)ttC>ttA		transglutaminase 4	L-Glutamine(DB00130)						125.0	113.0	117.0					3																	44948523		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44948523C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1158C>A	3.37:g.44948523C>A	ENSP00000296125:p.Phe386Leu						p.F386L	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	10	1226	+			386					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1158C>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783789	0.70222	.	.	ENSG00000163810	ENST00000296125	D	0.81499	-1.5	2.03	1.09	0.20402	.	0.143886	0.29239	U	0.012729	T	0.76090	0.3939	M	0.77313	2.365	0.35376	D	0.789494	P	0.41313	0.745	B	0.39419	0.299	T	0.79288	-0.1865	10	0.72032	D	0.01	.	5.2833	0.15688	0.0:0.5866:0.0:0.4134	.	386	P49221	TGM4_HUMAN	L	386	ENSP00000296125:F386L	ENSP00000296125:F386L	F	+	3	2	TGM4	44923527	1.000000	0.71417	0.004000	0.12327	0.874000	0.50279	0.611000	0.24268	1.039000	0.40074	0.460000	0.39030	TTC		0.507	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		47	69	1	0	3.4345e-17	1	4.60033e-17	47	69				
GPR139	124274	broad.mit.edu	37	16	20043162	20043162	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20043162A>G	ENST00000570682.1	-	2	1257	c.957T>C	c.(955-957)ttT>ttC	p.F319F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	319					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTGTTATGGAAAAGTTATGAT	0.483																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(955-957)ttT>ttC		G protein-coupled receptor 139							162.0	153.0	156.0					16																	20043162		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043162A>G	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.957T>C	16.37:g.20043162A>G							p.F319F	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1257	-			319					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.957T>C	CCDS32398.1																																																																																				0.483	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		55	87	0	0	0	1	0	55	87				
HSPB3	8988	broad.mit.edu	37	5	53751869	53751869	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:53751869G>T	ENST00000302005.1	+	1	425	c.250G>T	c.(250-252)Gac>Tac	p.D84Y		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	84					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				CCTCCCTGAAGACATCATCAT	0.537																																						ENST00000302005.1																			0				breast(1)|large_intestine(4)|prostate(3)	8						c.(250-252)Gac>Tac		heat shock 27kDa protein 3							103.0	95.0	98.0					5																	53751869		2203	4300	6503	SO:0001583	missense	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751869G>T	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.250G>T	5.37:g.53751869G>T	ENSP00000303394:p.Asp84Tyr						p.D84Y	NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN			1	425	+		Lung NSC(810;0.00104)	84						Missense_Mutation	SNP	ENST00000302005.1	37	c.250G>T	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717669	0.89205	.	.	ENSG00000169271	ENST00000302005	D	0.94723	-3.5	5.67	5.67	0.87782	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.98076	1.0401	10	0.87932	D	0	-31.2699	19.7612	0.96319	0.0:0.0:1.0:0.0	.	84	Q12988	HSPB3_HUMAN	Y	84	ENSP00000303394:D84Y	ENSP00000303394:D84Y	D	+	1	0	HSPB3	53787626	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.692000	0.84203	2.646000	0.89796	0.655000	0.94253	GAC		0.537	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			36	89	1	0	1.36161e-19	1	1.85609e-19	36	89				
STAG1	10274	broad.mit.edu	37	3	136221539	136221539	+	Silent	SNP	G	G	A	rs113504457	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136221539G>A	ENST00000383202.2	-	8	1015	c.759C>T	c.(757-759)gcC>gcT	p.A253A	STAG1_ENST00000236698.5_Silent_p.A253A|STAG1_ENST00000434713.2_Silent_p.A27A	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	253					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A253A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TATTTCTCTCGGCTTCATATT	0.383																																						ENST00000383202.2																			1	Substitution - coding silent(1)	p.A253A(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(757-759)gcC>gcT		stromal antigen 1		G		1,4405	2.1+/-5.4	0,1,2202	143.0	135.0	138.0		759	-7.6	1.0	3	dbSNP_132	138	0,8600		0,0,4300	no	coding-synonymous	STAG1	NM_005862.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		253/1259	136221539	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136221539G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.759C>T	3.37:g.136221539G>A						STAG1_ENST00000236698.5_Silent_p.A253A|STAG1_ENST00000434713.2_Silent_p.A27A	p.A253A	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			8	1015	-			253					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.759C>T	CCDS3090.1																																																																																				0.383	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		6	50	0	0	0	1	0	6	50				
ZFP3	124961	broad.mit.edu	37	17	4996205	4996205	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4996205G>T	ENST00000318833.3	+	2	1742	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ATACATCAGAGAATTCACACT	0.428																																						ENST00000318833.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						c.(1405-1407)aGa>aTa		ZFP3 zinc finger protein							71.0	72.0	72.0					17																	4996205		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4996205G>T	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1406G>T	17.37:g.4996205G>T	ENSP00000320347:p.Arg469Ile						p.R469I	NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN			2	1742	+			469					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.1406G>T	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063898	0.55432	.	.	ENSG00000180787	ENST00000318833	T	0.24908	1.83	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39909	N	0.001230	T	0.42314	0.1197	M	0.80982	2.52	0.45295	D	0.998291	D	0.60160	0.987	P	0.56434	0.798	T	0.40194	-0.9576	10	0.72032	D	0.01	-17.7259	7.8012	0.29176	0.11:0.0:0.89:0.0	.	469	Q96NJ6	ZFP3_HUMAN	I	469	ENSP00000320347:R469I	ENSP00000320347:R469I	R	+	2	0	ZFP3	4936929	0.020000	0.18652	1.000000	0.80357	0.999000	0.98932	1.469000	0.35343	2.532000	0.85374	0.650000	0.86243	AGA		0.428	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		16	42	1	0	5.01169e-05	1	5.45927e-05	16	42				
CD300C	10871	broad.mit.edu	37	17	72539095	72539095	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72539095G>A	ENST00000330793.1	-	3	792	c.432C>T	c.(430-432)agC>agT	p.S144S		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	144	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCCATGGAGCTCTGGGGGC	0.622																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(430-432)agC>agT		CD300c molecule							113.0	99.0	104.0					17																	72539095		2203	4300	6503	SO:0001819	synonymous_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72539095G>A	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.432C>T	17.37:g.72539095G>A							p.S144S	NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN			3	792	-			144			Pro-rich.			Silent	SNP	ENST00000330793.1	37	c.432C>T	CCDS11701.1																																																																																				0.622	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		26	37	0	0	0	1	0	26	37				
ICE2	79664	broad.mit.edu	37	15	60748989	60748989	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:60748989A>C	ENST00000261520.4	-	6	767	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_ENST00000561114.1_Missense_Mutation_p.I178S|NARG2_ENST00000439632.1_Missense_Mutation_p.I41S	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTCTTAAAATTTTCTGAGA	0.303																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(532-534)aTt>aGt		NMDA receptor regulated 2							44.0	50.0	48.0					15																	60748989		2200	4295	6495	SO:0001583	missense	79664					nucleus		g.chr15:60748989A>C																												ENST00000261520.4:c.533T>G	15.37:g.60748989A>C	ENSP00000261520:p.Ile178Ser					NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	p.I178S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			6	767	-			178						Missense_Mutation	SNP	ENST00000261520.4	37	c.533T>G	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168405	0.38315	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.4	5.4	0.78164	.	0.454000	0.25037	N	0.033625	T	0.32436	0.0829	N	0.19112	0.55	0.26481	N	0.975115	B;B	0.27625	0.13;0.183	B;B	0.31812	0.136;0.058	T	0.37009	-0.9724	9	0.72032	D	0.01	-14.449	13.1451	0.59456	1.0:0.0:0.0:0.0	.	41;178	G3V0H6;Q659A1	.;NARG2_HUMAN	S	178;41	.	ENSP00000261520:I178S	I	-	2	0	NARG2	58536281	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.967000	0.49216	2.193000	0.70182	0.454000	0.30748	ATT		0.303	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			15	29	0	0	0	1	0	15	29				
CDKL5	6792	broad.mit.edu	37	X	18638065	18638065	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18638065G>T	ENST00000379989.3	+	17	2640	c.2355G>T	c.(2353-2355)aaG>aaT	p.K785N	CDKL5_ENST00000379996.3_Missense_Mutation_p.K785N|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	785	Poly-Lys.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAATGAAAAAGAAAAAGAAGA	0.308																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2353-2355)aaG>aaT		cyclin-dependent kinase-like 5							29.0	29.0	29.0					X																	18638065		2199	4289	6488	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18638065G>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2355G>T	X.37:g.18638065G>T	ENSP00000369325:p.Lys785Asn					CDKL5_ENST00000379996.3_Missense_Mutation_p.K785N|CDKL5_ENST00000463994.1_3'UTR	p.K785N	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			17	2640	+	Hepatocellular(33;0.183)		785			Poly-Lys.		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2355G>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553987	0.65425	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.79845	-1.31;-1.31	5.63	4.77	0.60923	.	0.040612	0.85682	D	0.000000	T	0.81293	0.4792	L	0.34521	1.04	0.37143	D	0.901805	D	0.71674	0.998	P	0.57425	0.82	D	0.85359	0.1106	10	0.87932	D	0	-16.1475	12.8537	0.57873	0.0803:0.0:0.9197:0.0	.	785	O76039	CDKL5_HUMAN	N	785	ENSP00000369332:K785N;ENSP00000369325:K785N	ENSP00000369325:K785N	K	+	3	2	CDKL5	18547986	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.918000	0.69996	1.250000	0.43966	0.600000	0.82982	AAG		0.308	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		7	8	1	0	8.12818e-05	1	8.79784e-05	7	8				
RPS6KC1	26750	broad.mit.edu	37	1	213414614	213414614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:213414614G>T	ENST00000366960.3	+	11	1945	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.E587*|RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.E302*|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.E387*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	599					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TAGCCCCATGGAATTCTTTAG	0.418																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1795-1797)Gaa>Taa		ribosomal protein S6 kinase, 52kDa, polypeptide 1							41.0	44.0	43.0					1																	213414614		2203	4300	6503	SO:0001587	stop_gained	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414614G>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1795G>T	1.37:g.213414614G>T	ENSP00000355927:p.Glu599*					RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.E387*|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.E587*|RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.E302*|RPS6KC1_ENST00000490299.1_3'UTR	p.E599*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1945	+			599					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Nonsense_Mutation	SNP	ENST00000366960.3	37	c.1795G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	39	7.666819	0.98422	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	.	.	.	5.39	4.46	0.54185	.	0.101627	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-34.0151	16.0244	0.80532	0.0:0.1346:0.8654:0.0	.	.	.	.	X	387;599;587;302	.	ENSP00000355926:E587X	E	+	1	0	RPS6KC1	211481237	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.105000	0.94246	1.231000	0.43661	0.557000	0.71058	GAA		0.418	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		17	27	1	0	0.000566183	1	0.00059967	17	27				
TEK	7010	broad.mit.edu	37	9	27202911	27202911	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:27202911C>A	ENST00000380036.4	+	13	2445	c.2003C>A	c.(2002-2004)tCt>tAt	p.S668Y	TEK_ENST00000519097.1_Missense_Mutation_p.S521Y|TEK_ENST00000406359.4_Missense_Mutation_p.S625Y	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	668	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TATTCTATTTCTTCTATTACT	0.403																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2002-2004)tCt>tAt		TEK tyrosine kinase, endothelial							159.0	149.0	152.0					9																	27202911		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27202911C>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2003C>A	9.37:g.27202911C>A	ENSP00000369375:p.Ser668Tyr					TEK_ENST00000406359.4_Missense_Mutation_p.S625Y|TEK_ENST00000519097.1_Missense_Mutation_p.S521Y	p.S668Y	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	13	2445	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	668			Fibronectin type-III 3.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2003C>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566535	0.86439	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.17854	2.25;2.25;2.25	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000106	T	0.33990	0.0882	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;0.999;0.999;1.0	D;D;D;D	0.91635	0.996;0.986;0.998;0.999	T	0.03981	-1.0987	10	0.72032	D	0.01	.	20.0222	0.97508	0.0:1.0:0.0:0.0	.	521;701;625;668	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	Y	521;668;625	ENSP00000430686:S521Y;ENSP00000369375:S668Y;ENSP00000383977:S625Y	ENSP00000369375:S668Y	S	+	2	0	TEK	27192911	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.395000	0.59678	2.732000	0.93576	0.637000	0.83480	TCT		0.403	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			29	59	1	0	3.73148e-12	1	4.68978e-12	29	59				
ABI1	10006	broad.mit.edu	37	10	27052890	27052890	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27052890C>A	ENST00000376142.2	-	8	892		c.e8-1		ABI1_ENST00000376137.4_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000355394.4_Splice_Site|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000346832.5_Splice_Site|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376139.2_Intron	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1						actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAATGTTTTCTAATAAAATA	0.398																																						ENST00000355394.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e8-1		abl-interactor 1							61.0	70.0	67.0					10																	27052890		2203	4300	6503	SO:0001630	splice_region_variant	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27052890C>A	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.821-1G>T	10.37:g.27052890C>A						ABI1_ENST00000346832.5_Splice_Site|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376142.2_Splice_Site|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000376170.4_Intron				Q8IZP0	ABI1_HUMAN			8	1047	-								A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Splice_Site	SNP	ENST00000376142.2	37		CCDS7150.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070896	0.76301	.	.	ENSG00000136754	ENST00000376142;ENST00000355394;ENST00000346832	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7469	0.88423	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABI1	27092896	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.589000	0.61006	2.619000	0.88677	0.467000	0.42956	.		0.398	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470	Intron	12	28	1	0	0.00010058	1	0.000108553	12	28				
XPO1	7514	broad.mit.edu	37	2	61717829	61717829	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61717829T>C	ENST00000401558.2	-	17	2697	c.1970A>G	c.(1969-1971)tAc>tGc	p.Y657C	XPO1_ENST00000406957.1_Missense_Mutation_p.Y657C|XPO1_ENST00000404992.2_Missense_Mutation_p.Y657C	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	657	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GAGTAACATGTACTTTTCTAT	0.353			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"""exportin 1 (CRM1 homolog, yeast)"""			L			CLL		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1969-1971)tAc>tGc		exportin 1 (CRM1 homolog, yeast)							224.0	190.0	202.0					2																	61717829		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61717829T>C	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1970A>G	2.37:g.61717829T>C	ENSP00000384863:p.Tyr657Cys					XPO1_ENST00000404992.2_Missense_Mutation_p.Y657C|XPO1_ENST00000406957.1_Missense_Mutation_p.Y657C	p.Y657C	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		17	2697	-			657			Necessary for HTLV-1 Rex-mediated mRNA export.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.1970A>G	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.713448	0.89112	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66638	-0.22;-0.22;-0.22	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82337	0.5015	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.972;0.983	D	0.84332	0.0522	10	0.87932	D	0	-9.3819	16.8061	0.85666	0.0:0.0:0.0:1.0	.	304;657	B3KWD0;O14980	.;XPO1_HUMAN	C	657	ENSP00000384863:Y657C;ENSP00000385942:Y657C;ENSP00000385559:Y657C	ENSP00000384863:Y657C	Y	-	2	0	XPO1	61571333	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.017000	0.88712	2.367000	0.80283	0.528000	0.53228	TAC		0.353	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		11	60	0	0	0	1	0	11	60				
PAN3	255967	broad.mit.edu	37	13	28862175	28862175	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:28862175C>A	ENST00000380958.3	+	18	2591	c.2439C>A	c.(2437-2439)ctC>ctA	p.L813L	PAN3_ENST00000399613.1_Silent_p.L613L|PAN3_ENST00000282391.5_Silent_p.L501L	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGTTGAAACTCTTTAGGGATC	0.418																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1837-1839)ctC>ctA		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							123.0	116.0	118.0					13																	28862175		2203	4300	6503	SO:0001819	synonymous_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28862175C>A	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2439C>A	13.37:g.28862175C>A						PAN3_ENST00000380958.3_Silent_p.L813L|PAN3_ENST00000282391.5_Silent_p.L501L	p.L613L			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	17	1902	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	813			Interaction with PAN2.|Protein kinase.			Silent	SNP	ENST00000380958.3	37	c.1839C>A	CCDS9329.2																																																																																				0.418	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		11	24	1	0	5.50884e-06	1	6.10489e-06	11	24				
BCKDHB	594	broad.mit.edu	37	6	80912855	80912855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80912855G>T	ENST00000320393.6	+	8	924	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.E293*	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	293					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CATGGCAAAAGAAAAGCTTGG	0.373																																						ENST00000320393.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(877-879)Gaa>Taa		branched chain keto acid dehydrogenase E1, beta polypeptide							152.0	148.0	149.0					6																	80912855		2203	4300	6503	SO:0001587	stop_gained	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80912855G>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.877G>T	6.37:g.80912855G>T	ENSP00000318351:p.Glu293*					BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.E293*	p.E293*	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	8	924	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	293					Q5T2J3|Q9BQL0	Nonsense_Mutation	SNP	ENST00000320393.6	37	c.877G>T	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	40	8.119169	0.98662	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-24.7976	17.8152	0.88630	0.0:0.0:1.0:0.0	.	.	.	.	X	293;293;223	.	ENSP00000318351:E293X	E	+	1	0	BCKDHB	80969574	1.000000	0.71417	0.982000	0.44146	0.979000	0.70002	8.998000	0.93550	2.804000	0.96469	0.655000	0.94253	GAA		0.373	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		31	49	1	0	1.26612e-14	1	1.65413e-14	31	49				
PCOLCE	5118	broad.mit.edu	37	7	100203323	100203323	+	Missense_Mutation	SNP	T	T	C	rs201385704		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100203323T>C	ENST00000223061.5	+	5	893	c.613T>C	c.(613-615)Ttt>Ctt	p.F205L	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	205	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTTCGAGAAGTTTGACCTGGA	0.677																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(613-615)Ttt>Ctt		procollagen C-endopeptidase enhancer							22.0	21.0	21.0					7																	100203323		2196	4290	6486	SO:0001583	missense	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100203323T>C	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.613T>C	7.37:g.100203323T>C	ENSP00000223061:p.Phe205Leu						p.F205L	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			5	893	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		205			CUB 2.		B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	c.613T>C	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806545	0.90623	.	.	ENSG00000106333	ENST00000223061	T	0.21361	2.01	4.94	4.94	0.65067	CUB (5);	0.224065	0.38326	N	0.001733	T	0.30696	0.0773	L	0.47078	1.49	0.46631	D	0.999137	P	0.49447	0.924	P	0.53062	0.717	T	0.02226	-1.1192	10	0.52906	T	0.07	-7.729	12.5411	0.56169	0.0:0.0:0.0:1.0	.	205	Q15113	PCOC1_HUMAN	L	205	ENSP00000223061:F205L	ENSP00000223061:F205L	F	+	1	0	PCOLCE	100041259	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	2.517000	0.45529	1.858000	0.53909	0.383000	0.25322	TTT		0.677	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		7	7	0	0	0	1	0	7	7				
METTL21A	151194	broad.mit.edu	37	2	208477906	208477906	+	Missense_Mutation	SNP	C	C	T	rs200515055	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:208477906C>T	ENST00000411432.1	-	4	737	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	METTL21A_ENST00000442521.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000272839.3_Missense_Mutation_p.R192Q|METTL21A_ENST00000406927.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000426075.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000448007.2_Missense_Mutation_p.R174Q	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	174					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.R174Q(2)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						ATAGCGAATTCGGCATGCTAA	0.383													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22019	0.0		0.0	False		,,,				2504	0.0					ENST00000411432.1																			2	Substitution - Missense(2)	p.R174Q(2)	large_intestine(2)	endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						c.(520-522)cGa>cAa		methyltransferase like 21A							150.0	150.0	150.0					2																	208477906		2203	4300	6503	SO:0001583	missense	151194					integral to membrane	methyltransferase activity	g.chr2:208477906C>T	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.521G>A	2.37:g.208477906C>T	ENSP00000415115:p.Arg174Gln					METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000426075.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000442521.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000448007.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000272839.3_Missense_Mutation_p.R192Q|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000406927.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000448823.2_3'UTR	p.R174Q	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN			4	737	-			174					Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	c.521G>A	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023262	0.93462	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23	5.36	5.36	0.76844	.	0.163700	0.52532	D	0.000069	T	0.18173	0.0436	L	0.39692	1.235	0.54753	D	0.999983	D	0.69078	0.997	P	0.58077	0.832	T	0.00587	-1.1657	10	0.31617	T	0.26	-10.1001	19.2753	0.94029	0.0:1.0:0.0:0.0	.	174	Q8WXB1	MT21A_HUMAN	Q	174;174;192;174;174;174	ENSP00000415115:R174Q;ENSP00000407622:R174Q;ENSP00000272839:R192Q;ENSP00000385481:R174Q;ENSP00000403317:R174Q;ENSP00000392062:R174Q	ENSP00000272839:R192Q	R	-	2	0	METTL21A	208186151	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.581000	0.67471	2.797000	0.96272	0.561000	0.74099	CGA		0.383	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		42	82	0	0	0	1	0	42	82				
NUTF2	10204	broad.mit.edu	37	16	67899124	67899124	+	Missense_Mutation	SNP	G	G	A	rs146730920		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67899124G>A	ENST00000219169.4	+	2	374	c.91G>A	c.(91-93)Gca>Aca	p.A31T	NUTF2_ENST00000569436.2_Missense_Mutation_p.A31T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A31T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	31	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)	p.A31P(1)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAACTAGGCGCAATTTACGT	0.468																																						ENST00000219169.4																			1	Substitution - Missense(1)	p.A31P(1)	lung(1)	kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(91-93)Gca>Aca		nuclear transport factor 2							73.0	64.0	67.0					16																	67899124		2198	4300	6498	SO:0001583	missense	10204				protein transport	cytosol|nuclear pore	protein binding|transporter activity	g.chr16:67899124G>A	U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.91G>A	16.37:g.67899124G>A	ENSP00000219169:p.Ala31Thr					NUTF2_ENST00000569436.2_Missense_Mutation_p.A31T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A31T	p.A31T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)	2	374	+		Ovarian(137;0.0563)	31			NTF2.		B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	c.91G>A	CCDS10848.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541802	0.13250	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.42	5.42	0.78866	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.328672	0.32244	N	0.006363	T	0.23210	0.0561	N	0.16307	0.4	0.33007	D	0.527003	P;B	0.49635	0.926;0.002	B;B	0.34536	0.185;0.001	T	0.22661	-1.0210	9	0.09338	T	0.73	0.2507	18.0088	0.89217	0.0:0.0:1.0:0.0	.	31;31	B4DEQ2;P61970	.;NTF2_HUMAN	T	31	.	ENSP00000219169:A31T	A	+	1	0	NUTF2	66456625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.913000	0.48790	2.557000	0.86248	0.555000	0.69702	GCA		0.468	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1			14	28	0	0	0	1	0	14	28				
GLI3	2737	broad.mit.edu	37	7	42005605	42005605	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:42005605C>T	ENST00000395925.3	-	15	3150	c.3066G>A	c.(3064-3066)ccG>ccA	p.P1022P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1022					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGCTGAAGCGCGGCACACGAG	0.736									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3064-3066)ccG>ccA		GLI family zinc finger 3							12.0	14.0	13.0					7																	42005605		2194	4282	6476	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005605C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3066G>A	7.37:g.42005605C>T						GLI3_ENST00000479210.1_5'UTR	p.P1022P	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3150	-			1022					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3066G>A	CCDS5465.1																																																																																				0.736	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		12	19	0	0	0	1	0	12	19				
CRY2	1408	broad.mit.edu	37	11	45882464	45882464	+	Missense_Mutation	SNP	G	G	A	rs144003583	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:45882464G>A	ENST00000443527.2	+	4	618	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CRY2_ENST00000473199.1_Intron|CRY2_ENST00000417225.2_Missense_Mutation_p.R117H	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	178					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						ATCATCAGCCGCATGGAGCTG	0.582													G|||	5	0.000998403	0.0023	0.0014	5008	,	,		17128	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(595-597)cGc>cAc		cryptochrome 2 (photolyase-like)		G	HIS/ARG,HIS/ARG	5,4401	8.1+/-20.4	0,5,2198	94.0	86.0	89.0		350,596	6.0	1.0	11	dbSNP_134	89	0,8598		0,0,4299	yes	missense,missense	CRY2	NM_001127457.1,NM_021117.3	29,29	0,5,6497	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging,probably-damaging	117/533,199/615	45882464	5,12999	2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45882464G>A	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.596G>A	11.37:g.45882464G>A	ENSP00000406751:p.Arg199His					CRY2_ENST00000417225.2_Missense_Mutation_p.R117H|CRY2_ENST00000473199.1_Intron	p.R199H	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			4	618	+			178					B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.596G>A	CCDS7915.2	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.856288	0.97030	0.001135	0.0	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	L	0.58810	1.83	0.80722	D	1	D;D	0.54964	0.969;0.963	P;P	0.56788	0.806;0.707	T	0.69815	-0.5043	9	0.49607	T	0.09	-27.1839	20.5792	0.99380	0.0:0.0:1.0:0.0	.	199;117	B4DZD6;Q49AN0-2	.;.	H	117;199	.	ENSP00000397419:R117H	R	+	2	0	CRY2	45839040	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.881000	0.87252	2.873000	0.98535	0.561000	0.74099	CGC		0.582	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		35	63	0	0	0	1	0	35	63				
C10orf90	118611	broad.mit.edu	37	10	128193194	128193194	+	Missense_Mutation	SNP	G	G	T	rs533281841		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128193194G>T	ENST00000284694.7	-	3	695	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	C10orf90_ENST00000454341.1_Missense_Mutation_p.S192Y|C10orf90_ENST00000392694.1_Missense_Mutation_p.S145Y|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.S145Y|C10orf90_ENST00000544758.1_Missense_Mutation_p.S289Y	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	192	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)		GCAGGCAAAAGATCTCTGATG	0.622											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		15484	0.0		0.0	False		,,,				2504	0.0					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.(574-576)tCt>tAt		chromosome 10 open reading frame 90							61.0	67.0	65.0					10																	128193194		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193194G>T	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.575C>A	10.37:g.128193194G>T	ENSP00000284694:p.Ser192Tyr		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000544758.1_Missense_Mutation_p.S289Y|C10orf90_ENST00000454341.1_Missense_Mutation_p.S192Y|C10orf90_ENST00000392694.1_Missense_Mutation_p.S145Y|C10orf90_ENST00000356858.3_Missense_Mutation_p.S145Y|C10orf90_ENST00000368674.1_5'UTR	p.S192Y	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	695	-		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)	192					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.575C>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302302	0.40694	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23950	2.2;2.2;2.2;2.2;1.88	4.74	3.76	0.43208	.	0.682526	0.13548	N	0.379659	T	0.13970	0.0338	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.51351	0.683;0.846;0.944;0.846;0.785	B;B;B;B;B	0.41036	0.243;0.243;0.346;0.243;0.346	T	0.06445	-1.0826	10	0.87932	D	0	-2.5685	10.3003	0.43648	0.1039:0.0:0.8961:0.0	.	289;289;145;192;192	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	Y	145;192;192;289;192;145;145	ENSP00000284694:S192Y;ENSP00000398786:S192Y;ENSP00000444369:S289Y;ENSP00000405995:S192Y;ENSP00000376459:S145Y	ENSP00000284694:S192Y	S	-	2	0	C10orf90	128183184	0.064000	0.20934	0.005000	0.12908	0.099000	0.18886	2.827000	0.48112	2.462000	0.83206	0.467000	0.42956	TCT		0.622	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		29	76	1	0	1.04121e-07	1	1.21041e-07	29	76				
CNTN4	152330	broad.mit.edu	37	3	3097838	3097838	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:3097838G>A	ENST00000397461.1	+	24	3399	c.3015G>A	c.(3013-3015)tcG>tcA	p.S1005S	CNTN4_ENST00000418658.1_Silent_p.S1005S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Silent_p.S677S|CNTN4_ENST00000358480.3_Silent_p.S786S|CNTN4_ENST00000427331.1_Silent_p.S1005S|CNTN4_ENST00000397459.2_Silent_p.S677S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	1005					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTTCCACTTCGAATGCATGTA	0.463																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(3013-3015)tcG>tcA		contactin 4							123.0	111.0	115.0					3																	3097838		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3097838G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.3015G>A	3.37:g.3097838G>A						CNTN4_ENST00000397459.2_Silent_p.S677S|CNTN4_ENST00000418658.1_Silent_p.S1005S|CNTN4_ENST00000427331.1_Silent_p.S1005S|CNTN4_ENST00000358480.3_Silent_p.S786S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Silent_p.S677S	p.S1005S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	24	3399	+		Ovarian(110;0.156)	1005					B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.3015G>A	CCDS43041.1																																																																																				0.463	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			12	30	0	0	0	1	0	12	30				
CAPN9	10753	broad.mit.edu	37	1	230907779	230907779	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230907779G>A	ENST00000271971.2	+	7	922	c.809G>A	c.(808-810)aGa>aAa	p.R270K	CAPN9_ENST00000366666.2_Missense_Mutation_p.R207K|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.R270K	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	270	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CGAGGCCAGAGAATCGAGCTC	0.537																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(808-810)aGa>aAa		calpain 9							87.0	84.0	85.0					1																	230907779		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230907779G>A	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.809G>A	1.37:g.230907779G>A	ENSP00000271971:p.Arg270Lys					CAPN9_ENST00000366666.2_Missense_Mutation_p.R207K|CAPN9_ENST00000271971.2_Missense_Mutation_p.R270K|RP11-99J16__A.2_ENST00000412344.1_RNA	p.R270K	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			7	891	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	270			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.809G>A	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.512714	0.00975	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.14391	2.51;2.51;2.51	5.26	0.22	0.15279	Peptidase C2, calpain, catalytic domain (3);	0.342667	0.36628	N	0.002500	T	0.03263	0.0095	N	0.01431	-0.87	0.28375	N	0.919816	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.45220	-0.9276	10	0.02654	T	1	.	8.2194	0.31532	0.6616:0.0:0.3384:0.0	.	207;270;270	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	K	270;270;207	ENSP00000271971:R270K;ENSP00000346538:R270K;ENSP00000355626:R207K	ENSP00000271971:R270K	R	+	2	0	CAPN9	228974402	0.861000	0.29849	0.012000	0.15200	0.003000	0.03518	1.066000	0.30604	0.039000	0.15632	-0.290000	0.09829	AGA		0.537	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		10	68	0	0	0	1	0	10	68				
DHRS11	79154	broad.mit.edu	37	17	34959070	34959070	+	IGR	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34959070T>G	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_Missense_Mutation_p.L16V|MRM1_ENST00000250156.7_Missense_Mutation_p.L211V	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CACCGGATTTTTACAGGTAAT	0.582											OREG0024338	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(631-633)Tta>Gta		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							80.0	78.0	79.0					17																	34959070		2203	4300	6503	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34959070T>G		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34959070T>G			OREG0024338	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	851	MRM1_ENST00000585770.1_Missense_Mutation_p.L16V	p.L211V	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	2	870	+		Breast(25;0.00957)|Ovarian(249;0.17)	211					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.631T>G	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	T	18.57	3.651637	0.67472	.	.	ENSG00000129282	ENST00000250156	T	0.50548	0.74	5.55	-2.67	0.06059	tRNA/rRNA methyltransferase, SpoU (1);	0.169277	0.39615	N	0.001304	T	0.50274	0.1606	M	0.65498	2.005	0.35100	D	0.765143	P	0.35656	0.514	P	0.49708	0.62	T	0.54043	-0.8352	10	0.32370	T	0.25	-2.5965	7.2329	0.26053	0.1275:0.4962:0.0:0.3763	.	211	Q6IN84	MRM1_HUMAN	V	211	ENSP00000250156:L211V	ENSP00000250156:L211V	L	+	1	2	MRM1	32033183	0.924000	0.31332	0.585000	0.28666	0.889000	0.51656	-0.047000	0.11963	-0.453000	0.07076	0.533000	0.62120	TTA		0.582	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		4	77	0	0	0	1	0	4	77				
BEND6	221336	broad.mit.edu	37	6	56882055	56882055	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56882055G>T	ENST00000370746.3	+	5	839	c.570G>T	c.(568-570)caG>caT	p.Q190H	BEND6_ENST00000545789.1_Missense_Mutation_p.Q92H|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	190	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GCAAGCCTCAGAAGTTTATTA	0.388																																						ENST00000370746.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(568-570)caG>caT		BEN domain containing 6							62.0	58.0	59.0					6																	56882055		1843	4099	5942	SO:0001583	missense	221336							g.chr6:56882055G>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.570G>T	6.37:g.56882055G>T	ENSP00000359782:p.Gln190His					BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.Q92H	p.Q190H	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN			5	839	+			190			BEN.		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.570G>T	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574967	0.65878	.	.	ENSG00000151917	ENST00000370746;ENST00000545789	.	.	.	4.87	4.87	0.63330	BEN domain (1);	0.000000	0.51477	D	0.000086	T	0.32041	0.0816	N	0.08118	0	0.33856	D	0.633185	D;D	0.67145	0.996;0.994	D;D	0.81914	0.995;0.986	T	0.25710	-1.0124	8	.	.	.	-13.9765	10.8059	0.46518	0.0893:0.0:0.9107:0.0	.	190;92	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	H	190;92	.	.	Q	+	3	2	BEND6	56990014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.416000	0.44644	2.538000	0.85594	0.561000	0.74099	CAG		0.388	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		7	15	1	0	3.09899e-07	1	3.54467e-07	7	15				
TUBGCP6	85378	broad.mit.edu	37	22	50664759	50664759	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:50664759G>A	ENST00000248846.5	-	8	1754	c.1650C>T	c.(1648-1650)ggC>ggT	p.G550G	TUBGCP6_ENST00000491449.1_5'Flank|TUBGCP6_ENST00000439308.2_Silent_p.G550G			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	550					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCATGAACTCGCCATAAGCGT	0.607																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(1648-1650)ggC>ggT		tubulin, gamma complex associated protein 6							70.0	58.0	62.0					22																	50664759		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50664759G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1650C>T	22.37:g.50664759G>A						TUBGCP6_ENST00000248846.5_Silent_p.G550G	p.G550G	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	8	2142	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	550					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.1650C>T	CCDS14087.1																																																																																				0.607	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		14	12	0	0	0	1	0	14	12				
UXT	8409	broad.mit.edu	37	X	47516992	47516992	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47516992T>G	ENST00000333119.3	-	4	282	c.227A>C	c.(226-228)aAc>aCc	p.N76T	UXT_ENST00000460840.1_5'Flank|RP1-212G6.7_ENST00000591832.1_RNA|UXT_ENST00000335890.2_Missense_Mutation_p.N88T|RP1-212G6.7_ENST00000590504.1_RNA	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	76					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AACGAAGAAGTTACAGCCCAA	0.498																																						ENST00000335890.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						c.(262-264)aAc>aCc		ubiquitously-expressed, prefoldin-like chaperone							119.0	88.0	98.0					X																	47516992		2203	4300	6503	SO:0001583	missense	8409				centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding	g.chrX:47516992T>G	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.227A>C	X.37:g.47516992T>G	ENSP00000327797:p.Asn76Thr					UXT_ENST00000333119.3_Missense_Mutation_p.N76T	p.N88T	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN			3	416	-			76					B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP	ENST00000333119.3	37	c.263A>C	CCDS14285.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690751	0.68271	.	.	ENSG00000126756	ENST00000333119;ENST00000335890	T;T	0.41400	1.0;1.0	5.35	5.35	0.76521	Prefoldin (1);Prefoldin subunit (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.85299	2.745	0.39083	D	0.960958	D	0.64830	0.994	D	0.63192	0.912	T	0.68424	-0.5412	10	0.42905	T	0.14	-17.8809	10.3754	0.44079	0.0:0.0:0.0:1.0	.	76	Q9UBK9	UXT_HUMAN	T	76;88	ENSP00000327797:N76T;ENSP00000337393:N88T	ENSP00000327797:N76T	N	-	2	0	UXT	47401936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.588000	0.60999	1.976000	0.57569	0.486000	0.48141	AAC		0.498	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477		11	21	0	0	0	1	0	11	21				
NEB	4703	broad.mit.edu	37	2	152534175	152534175	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152534175C>A	ENST00000172853.10	-	34	3825	c.3678G>T	c.(3676-3678)aaG>aaT	p.K1226N	NEB_ENST00000427231.2_Missense_Mutation_p.K1226N|NEB_ENST00000604864.1_Missense_Mutation_p.K1226N|NEB_ENST00000603639.1_Missense_Mutation_p.K1226N|NEB_ENST00000409198.1_Missense_Mutation_p.K1226N|NEB_ENST00000397345.3_Missense_Mutation_p.K1226N			P20929	NEBU_HUMAN	nebulin	1226					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTGTACTTCTTTTCATTCA	0.458																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(3676-3678)aaG>aaT		nebulin							222.0	206.0	211.0					2																	152534175		1917	4126	6043	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152534175C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3678G>T	2.37:g.152534175C>A	ENSP00000172853:p.Lys1226Asn					NEB_ENST00000603639.1_Missense_Mutation_p.K1226N|NEB_ENST00000604864.1_Missense_Mutation_p.K1226N|NEB_ENST00000409198.1_Missense_Mutation_p.K1226N|NEB_ENST00000172853.10_Missense_Mutation_p.K1226N|NEB_ENST00000427231.2_Missense_Mutation_p.K1226N	p.K1226N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	34	3880	-			1226					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.3678G>T		.	.	.	.	.	.	.	.	.	.	C	17.50	3.405237	0.62288	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.07800	3.17;3.22;3.22;3.16	5.19	5.19	0.71726	.	0.164805	0.51477	D	0.000081	T	0.27278	0.0669	M	0.67625	2.065	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.00317	-1.1822	10	0.45353	T	0.12	.	18.6883	0.91573	0.0:1.0:0.0:0.0	.	1226	P20929	NEBU_HUMAN	N	1226	ENSP00000386259:K1226N;ENSP00000380505:K1226N;ENSP00000416578:K1226N;ENSP00000172853:K1226N	ENSP00000172853:K1226N	K	-	3	2	NEB	152242421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.211000	0.32382	2.593000	0.87608	0.655000	0.94253	AAG		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		49	101	1	0	4.18559e-23	1	5.84444e-23	49	101				
SNHG14	104472715	broad.mit.edu	37	15	25324254	25324254	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25324254T>C	ENST00000546682.1	+	0	0				SNHG14_ENST00000549804.2_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-13_ENST00000384408.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGAACAAAATGAGTGGGAAC	0.418																																						ENST00000549804.2																			0																				195.0	184.0	187.0					15																	25324254		876	1991	2867			0							g.chr15:25324254T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25324254T>C						SNORD116-13_ENST00000384408.1_RNA								0	1377	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.418	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			7	110	0	0	0	1	0	7	110				
MB21D2	151963	broad.mit.edu	37	3	192517117	192517117	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:192517117G>T	ENST00000392452.2	-	2	854	c.534C>A	c.(532-534)ttC>ttA	p.F178L		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	178							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TAGGTGAGAAGAAGTAGTTGG	0.463																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(532-534)ttC>ttA		Mab-21 domain containing 2							92.0	93.0	93.0					3																	192517117		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517117G>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.534C>A	3.37:g.192517117G>T	ENSP00000376246:p.Phe178Leu						p.F178L	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	854	-			178					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.534C>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403140	0.42613	.	.	ENSG00000180611	ENST00000392452	T	0.08008	3.14	5.63	4.76	0.60689	.	0.048210	0.85682	D	0.000000	T	0.09468	0.0233	L	0.51422	1.61	0.58432	D	0.999997	P	0.38827	0.649	B	0.33042	0.157	T	0.05666	-1.0871	10	0.59425	D	0.04	.	13.6822	0.62493	0.0734:0.0:0.9266:0.0	.	178	Q8IYB1	M21D2_HUMAN	L	178	ENSP00000376246:F178L	ENSP00000376246:F178L	F	-	3	2	MB21D2	193999811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.100000	0.57762	1.389000	0.46526	0.655000	0.94253	TTC		0.463	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		35	37	1	0	8.4185e-14	1	1.08646e-13	35	37				
FABP5P3	220832	broad.mit.edu	37	7	152139670	152139670	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:152139670G>A	ENST00000477993.1	+	0	425					NR_002935.1		A8MUU1	FB5L3_HUMAN	fatty acid binding protein 5 pseudogene 3								lipid binding (GO:0008289)|transporter activity (GO:0005215)										GCGCCTGGTGGACAACAAAGG	0.547																																						ENST00000477993.1																			0																																																			0							g.chr7:152139670G>A			7q36.1	2010-10-12	2010-10-12	2010-10-12	ENSG00000241735	ENSG00000241735			22573	pseudogene	pseudogene			"""fatty acid binding protein 5-like 3"", ""fatty acid binding protein 5-like 3 (pseudogene)"""	FABP5L3			Standard	NR_002935		Approved	TCAG_1781704	uc003wlb.3	A8MUU1	OTTHUMG00000157257		7.37:g.152139670G>A								NR_002935.1						0	425	+									RNA	SNP	ENST00000477993.1	37																																																																																						0.547	FABP5P3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000348208.1	NR_002935		9	8	0	0	0	1	0	9	8				
IFNA2	3440	broad.mit.edu	37	9	21384886	21384886	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21384886C>A	ENST00000380206.2	-	1	510	c.443G>T	c.(442-444)aGa>aTa	p.R148I		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	148					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)	p.R148I(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GAGAGTGATTCTTTGGAAGTA	0.468																																						ENST00000380206.2																			1	Substitution - Missense(1)	p.R148I(1)	large_intestine(1)	breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13						c.(442-444)aGa>aTa		interferon, alpha 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						205.0	205.0	205.0					9																	21384886		2203	4300	6503	SO:0001583	missense	3440				blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21384886C>A		CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"""Interferons"""	5423	protein-coding gene	gene with protein product	"""alpha-2a interferon"", ""interferon alpha 2b"", ""interferon alpha A"""	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.443G>T	9.37:g.21384886C>A	ENSP00000369554:p.Arg148Ile						p.R148I	NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	510	-			148					H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	ENST00000380206.2	37	c.443G>T	CCDS6506.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498628	0.64298	.	.	ENSG00000188379	ENST00000380206	T	0.51574	0.7	3.24	3.24	0.37175	.	0.318425	0.33631	N	0.004718	T	0.72875	0.3515	H	0.94542	3.55	0.20873	N	0.99984	D	0.60160	0.987	D	0.64687	0.928	T	0.67360	-0.5690	10	0.87932	D	0	.	11.4477	0.50134	0.0:1.0:0.0:0.0	.	148	Q6DJX8	.	I	148	ENSP00000369554:R148I	ENSP00000369554:R148I	R	-	2	0	IFNA2	21374886	0.001000	0.12720	0.048000	0.18961	0.509000	0.34042	1.217000	0.32455	1.648000	0.50643	0.484000	0.47621	AGA		0.468	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605		84	155	1	0	2.0464e-58	1	2.97336e-58	84	155				
DTNA	1837	broad.mit.edu	37	18	32407596	32407596	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32407596C>A	ENST00000399113.3	+	10	1050	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	DTNA_ENST00000598774.1_Missense_Mutation_p.F350L|DTNA_ENST00000595022.1_Missense_Mutation_p.F347L|DTNA_ENST00000556414.3_Missense_Mutation_p.F29L|DTNA_ENST00000399097.3_Missense_Mutation_p.F29L|DTNA_ENST00000599844.1_Missense_Mutation_p.F29L|DTNA_ENST00000598334.1_Missense_Mutation_p.F347L|DTNA_ENST00000315456.6_Missense_Mutation_p.F350L|DTNA_ENST00000597674.1_Missense_Mutation_p.F29L|DTNA_ENST00000591182.1_Missense_Mutation_p.F29L|DTNA_ENST00000597599.1_Missense_Mutation_p.F347L|DTNA_ENST00000269191.6_Missense_Mutation_p.F350L|DTNA_ENST00000601125.1_Missense_Mutation_p.F29L|DTNA_ENST00000269190.7_Missense_Mutation_p.F351L|DTNA_ENST00000444659.1_Missense_Mutation_p.F350L|DTNA_ENST00000554864.3_Missense_Mutation_p.F347L|DTNA_ENST00000598142.1_Missense_Mutation_p.F350L|DTNA_ENST00000283365.9_Missense_Mutation_p.F350L|DTNA_ENST00000399121.5_Missense_Mutation_p.F347L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.F347L|DTNA_ENST00000269192.7_Missense_Mutation_p.F29L			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	350					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACACCCTGTTCTCCCACTCTG	0.403																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1048-1050)ttC>ttA		dystrobrevin, alpha							153.0	143.0	146.0					18																	32407596		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32407596C>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1050C>A	18.37:g.32407596C>A	ENSP00000382064:p.Phe350Leu					DTNA_ENST00000556414.3_Missense_Mutation_p.F29L|DTNA_ENST00000591182.1_Missense_Mutation_p.F29L|DTNA_ENST00000598774.1_Missense_Mutation_p.F350L|DTNA_ENST00000315456.6_Missense_Mutation_p.F350L|DTNA_ENST00000601125.1_Missense_Mutation_p.F29L|DTNA_ENST00000597599.1_Missense_Mutation_p.F347L|DTNA_ENST00000399121.5_Missense_Mutation_p.F347L|DTNA_ENST00000348997.5_Missense_Mutation_p.F347L|DTNA_ENST00000599844.1_Missense_Mutation_p.F29L|DTNA_ENST00000444659.1_Missense_Mutation_p.F350L|DTNA_ENST00000597674.1_Missense_Mutation_p.F29L|DTNA_ENST00000269190.7_Missense_Mutation_p.F351L|DTNA_ENST00000269192.7_Missense_Mutation_p.F29L|DTNA_ENST00000595022.1_Missense_Mutation_p.F347L|DTNA_ENST00000399113.3_Missense_Mutation_p.F350L|DTNA_ENST00000399097.3_Missense_Mutation_p.F29L|DTNA_ENST00000598142.1_Missense_Mutation_p.F350L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.F347L|DTNA_ENST00000269191.6_Missense_Mutation_p.F350L|DTNA_ENST00000598334.1_Missense_Mutation_p.F347L	p.F350L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			12	1401	+			350					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1050C>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652730	0.47362	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T;T	0.16196	2.36;2.49;2.46;2.44;2.47;2.47;2.47	5.77	2.01	0.26516	.	0.050990	0.85682	D	0.000000	T	0.11836	0.0288	N	0.16656	0.425	0.39018	D	0.959695	P;B;P;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44816	0.721;0.003;0.844;0.001;0.0;0.001;0.0;0.001;0.002;0.001;0.0;0.0;0.001;0.001;0.0;0.001	P;B;P;B;B;B;B;B;B;B;B;B;B;B;B;B	0.46917	0.5;0.025;0.531;0.008;0.003;0.008;0.001;0.001;0.006;0.008;0.001;0.001;0.002;0.001;0.0;0.003	T	0.16778	-1.0391	10	0.12766	T	0.61	-24.4665	10.1259	0.42649	0.0:0.7351:0.0:0.2649	.	29;29;97;29;350;350;347;350;29;347;347;358;347;350;350;350	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.;.	L	350;350;350;347;347;351;29;347;350;350;350;350;29;29;29	ENSP00000283365:F350L;ENSP00000322519:F350L;ENSP00000269190:F351L;ENSP00000336682:F347L;ENSP00000405819:F350L;ENSP00000269191:F350L;ENSP00000382064:F350L	ENSP00000269190:F351L	F	+	3	2	DTNA	30661594	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.865000	0.27940	0.152000	0.19188	-0.137000	0.14449	TTC		0.403	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		29	48	1	0	2.61193e-14	1	3.39424e-14	29	48				
DNAH10	196385	broad.mit.edu	37	12	124326058	124326058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124326058G>T	ENST00000409039.3	+	29	4997	c.4972G>T	c.(4972-4974)Gag>Tag	p.E1658*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1658	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATTACCAAAGAGGCTATTTT	0.418																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4972-4974)Gag>Tag		dynein, axonemal, heavy chain 10							73.0	77.0	76.0					12																	124326058		1926	4125	6051	SO:0001587	stop_gained	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124326058G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4972G>T	12.37:g.124326058G>T	ENSP00000386770:p.Glu1658*						p.E1658*	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4997	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1658			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	c.4972G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	37	6.066584	0.97251	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.42	5.42	0.78866	.	0.071288	0.53938	U	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.2259	0.93817	0.0:0.0:1.0:0.0	.	.	.	.	X	1658	.	ENSP00000386770:E1658X	E	+	1	0	DNAH10	122892011	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	7.821000	0.86641	2.563000	0.86464	0.561000	0.74099	GAG		0.418	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			21	46	1	0	1.28384e-07	1	1.48174e-07	21	46				
TAS2R3	50831	broad.mit.edu	37	7	141464029	141464029	+	Missense_Mutation	SNP	A	A	C	rs146979075	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141464029A>C	ENST00000247879.2	+	1	133	c.71A>C	c.(70-72)aAt>aCt	p.N24T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	24					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ATTCTGGTCAATTGTTTCATT	0.473																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(70-72)aAt>aCt		taste receptor, type 2, member 3							239.0	234.0	235.0					7																	141464029		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464029A>C	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.71A>C	7.37:g.141464029A>C	ENSP00000247879:p.Asn24Thr					SSBP1_ENST00000465582.1_Intron	p.N24T	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	133	+	Melanoma(164;0.0171)		24					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.71A>C	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514536	0.64522	.	.	ENSG00000127362	ENST00000247879	T	0.75477	-0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	H	0.95470	3.675	0.37440	D	0.914369	D	0.89917	1.0	D	0.83275	0.996	D	0.94191	0.7441	10	0.87932	D	0	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	24	Q9NYW6	TA2R3_HUMAN	T	24	ENSP00000247879:N24T	ENSP00000247879:N24T	N	+	2	0	TAS2R3	141110498	1.000000	0.71417	0.912000	0.35992	0.324000	0.28378	4.195000	0.58400	2.371000	0.80710	0.533000	0.62120	AAT		0.473	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			54	114	0	0	0	1	0	54	114				
ERBB4	2066	broad.mit.edu	37	2	213403311	213403311	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:213403311C>A	ENST00000342788.4	-	0	254				ERBB4_ENST00000436443.1_De_novo_Start_OutOfFrame|ERBB4_ENST00000402597.1_5'Flank	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCATATCCCCCTTTCGGGCAC	0.667										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179								v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							38.0	44.0	42.0					2																	213403311		692	1591	2283			2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:213403311C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.-57G>T	2.37:g.213403311C>A		TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_De_novo_Start_OutOfFrame		NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	0	254	-		Renal(323;0.06)|Lung NSC(271;0.197)						B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Translation_Start_Site	SNP	ENST00000342788.4	37		CCDS2394.1																																																																																				0.667	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		15	22	1	0	1.05317e-09	1	1.27574e-09	15	22				
CXorf66	347487	broad.mit.edu	37	X	139038459	139038459	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:139038459A>G	ENST00000370540.1	-	3	705	c.682T>C	c.(682-684)Tcc>Ccc	p.S228P		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	228						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AATGGCTTGGATGGTGAGATT	0.453																																						ENST00000370540.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(682-684)Tcc>Ccc		chromosome X open reading frame 66							158.0	143.0	148.0					X																	139038459		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038459A>G		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.682T>C	X.37:g.139038459A>G	ENSP00000359571:p.Ser228Pro						p.S228P	NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN			3	705	-			228						Missense_Mutation	SNP	ENST00000370540.1	37	c.682T>C	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	A	3.557	-0.090530	0.07053	.	.	ENSG00000203933	ENST00000370540	T	0.51574	0.7	3.62	-7.24	0.01475	.	1.529000	0.04084	N	0.310231	T	0.18635	0.0447	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13683	-1.0500	9	.	.	.	7.2778	4.6076	0.12385	0.484:0.0:0.1422:0.3738	.	228	Q5JRM2	CX066_HUMAN	P	228	ENSP00000359571:S228P	.	S	-	1	0	CXorf66	138866125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.244000	0.02902	-2.225000	0.00724	-1.101000	0.02118	TCC		0.453	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		70	124	0	0	0	1	0	70	124				
SLC10A6	345274	broad.mit.edu	37	4	87770114	87770114	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87770114G>A	ENST00000273905.6	-	1	302	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	52					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)	p.S52Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GATCTCCACGGAACATCCCAA	0.557																																						ENST00000273905.6																			1	Substitution - Missense(1)	p.S52Y(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(154-156)tCc>tTc		solute carrier family 10 (sodium/bile acid cotransporter), member 6							76.0	56.0	63.0					4																	87770114		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87770114G>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.155C>T	4.37:g.87770114G>A	ENSP00000273905:p.Ser52Phe					SLC10A6_ENST00000505535.1_5'UTR	p.S52F	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	302	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	52					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.155C>T	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348906	0.61183	.	.	ENSG00000145283	ENST00000273905	T	0.11385	2.78	5.85	5.85	0.93711	.	0.077043	0.52532	D	0.000068	T	0.31389	0.0795	M	0.62723	1.935	0.50813	D	0.999895	D	0.64830	0.994	D	0.67103	0.949	T	0.00316	-1.1823	10	0.87932	D	0	-7.349	17.6669	0.88205	0.0:0.0:1.0:0.0	.	52	Q3KNW5	SOAT_HUMAN	F	52	ENSP00000273905:S52F	ENSP00000273905:S52F	S	-	2	0	SLC10A6	87989138	1.000000	0.71417	0.981000	0.43875	0.031000	0.12232	6.294000	0.72738	2.768000	0.95171	0.655000	0.94253	TCC		0.557	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		10	31	0	0	0	1	0	10	31				
FUT5	2527	broad.mit.edu	37	19	5867215	5867215	+	Silent	SNP	G	G	A	rs550135835	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5867215G>A	ENST00000588525.1	-	2	609	c.522C>T	c.(520-522)agC>agT	p.S174S	FUT5_ENST00000252675.5_Silent_p.S174S	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	174					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGTCGGAGTCGCTGCGGTAGG	0.652													G|||	28	0.00559105	0.0	0.0	5008	,	,		14042	0.0		0.0	False		,,,				2504	0.0286					ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(520-522)agC>agT		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)							43.0	35.0	38.0					19																	5867215		2202	4298	6500	SO:0001819	synonymous_variant	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867215G>A		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.522C>T	19.37:g.5867215G>A						FUT5_ENST00000588525.1_Silent_p.S174S	p.S174S			Q11128	FUT5_HUMAN			5	1084	-			174					A8K4X2	Silent	SNP	ENST00000588525.1	37	c.522C>T	CCDS12154.1																																																																																				0.652	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		24	43	0	0	0	1	0	24	43				
ZBTB24	9841	broad.mit.edu	37	6	109802872	109802872	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109802872C>A	ENST00000230122.3	-	2	525	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	120	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TTTACCAGGTCATAGACTTTT	0.418																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(358-360)Gac>Tac		zinc finger and BTB domain containing 24							129.0	134.0	132.0					6																	109802872		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802872C>A	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.358G>T	6.37:g.109802872C>A	ENSP00000230122:p.Asp120Tyr						p.D120Y	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	525	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	120			BTB.		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.358G>T	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379341	0.82682	.	.	ENSG00000112365	ENST00000230122	T	0.68025	-0.3	5.81	5.81	0.92471	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.093484	0.64402	D	0.000001	T	0.79969	0.4538	M	0.73319	2.225	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.80730	-0.1252	10	0.87932	D	0	-35.0656	20.0804	0.97772	0.0:1.0:0.0:0.0	.	120;120	O43167-2;O43167	.;ZBT24_HUMAN	Y	120	ENSP00000230122:D120Y	ENSP00000230122:D120Y	D	-	1	0	ZBTB24	109909565	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.336000	0.79245	2.738000	0.93877	0.655000	0.94253	GAC		0.418	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		40	72	1	0	5.04308e-16	1	6.68172e-16	40	72				
CTSV	1515	broad.mit.edu	37	9	99797041	99797041	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:99797041G>A	ENST00000259470.5	-	7	1121	c.872C>T	c.(871-873)tCg>tTg	p.S291L	CTSV_ENST00000538255.1_Missense_Mutation_p.S291L|CTSV_ENST00000479932.1_5'Flank	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	291					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.S291L(1)									GCTGTTATTCGAATTTGCTCC	0.378																																						ENST00000259470.5																			1	Substitution - Missense(1)	p.S291L(1)	endometrium(1)								c.(871-873)tCg>tTg		cathepsin V							113.0	111.0	111.0					9																	99797041		2203	4300	6503	SO:0001583	missense	1515							g.chr9:99797041G>A	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.872C>T	9.37:g.99797041G>A	ENSP00000259470:p.Ser291Leu					CTSV_ENST00000538255.1_Missense_Mutation_p.S291L	p.S291L	NM_001333.3	NP_001324.2					7	1121	-								O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	c.872C>T	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	G	3.335	-0.135751	0.06711	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.23950	1.88;1.88	3.7	3.7	0.42460	Peptidase C1A, papain C-terminal (2);	.	.	.	.	T	0.10337	0.0253	N	0.05050	-0.12	0.09310	N	1	P;P	0.44044	0.677;0.825	B;B	0.34779	0.132;0.189	T	0.04216	-1.0968	8	.	.	.	.	8.7726	0.34742	0.0:0.0:0.7749:0.2251	.	291;291	B2R717;O60911	.;CATL2_HUMAN	L	291	ENSP00000259470:S291L;ENSP00000445052:S291L	.	S	-	2	0	CTSL2	98836862	0.864000	0.29904	0.007000	0.13788	0.003000	0.03518	2.326000	0.43849	2.387000	0.81309	0.555000	0.69702	TCG		0.378	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		22	37	0	0	0	1	0	22	37				
TMEM132C	92293	broad.mit.edu	37	12	128899720	128899720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:128899720G>T	ENST00000435159.2	+	2	529	c.529G>T	c.(529-531)Gaa>Taa	p.E177*		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	177						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TGCTTTCCGAGAAACCAGAGA	0.637																																						ENST00000435159.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						c.(529-531)Gaa>Taa		transmembrane protein 132C							15.0	18.0	17.0					12																	128899720		692	1591	2283	SO:0001587	stop_gained	92293					integral to membrane		g.chr12:128899720G>T	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.529G>T	12.37:g.128899720G>T	ENSP00000410852:p.Glu177*						p.E177*	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN			2	529	+			177					Q69YX8	Nonsense_Mutation	SNP	ENST00000435159.2	37	c.529G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.428776	0.97559	.	.	ENSG00000181234	ENST00000435159	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.8683	0.92301	0.0:0.0:1.0:0.0	.	.	.	.	X	177	.	ENSP00000410852:E177X	E	+	1	0	TMEM132C	127465673	1.000000	0.71417	0.852000	0.33557	0.885000	0.51271	9.403000	0.97302	2.519000	0.84933	0.655000	0.94253	GAA		0.637	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062		12	14	1	0	5.50884e-06	1	6.10489e-06	12	14				
GCNT2	2651	broad.mit.edu	37	6	10556860	10556860	+	Intron	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10556860G>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.E68D|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGATCCATGAGAAGTCTTCTT	0.413																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(202-204)gaG>gaT		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							131.0	124.0	127.0					6																	10556860		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556860G>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26791G>T	6.37:g.10556860G>T						GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	p.E68D	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	621	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	70						Missense_Mutation	SNP	ENST00000379597.3	37	c.204G>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	6.023	0.372555	0.11409	.	.	ENSG00000111846	ENST00000316170	T	0.42131	0.98	5.1	2.1	0.27182	.	.	.	.	.	T	0.13114	0.0318	L	0.40543	1.245	0.37319	D	0.909482	B	0.02656	0.0	B	0.06405	0.002	T	0.05402	-1.0887	9	0.29301	T	0.29	.	4.5552	0.12133	0.2423:0.3244:0.4333:0.0	.	68	Q06430	GNT2B_HUMAN	D	68	ENSP00000314844:E68D	ENSP00000314844:E68D	E	+	3	2	GCNT2	10664846	0.870000	0.30015	0.278000	0.24718	0.980000	0.70556	1.133000	0.31430	0.631000	0.30412	0.655000	0.94253	GAG		0.413	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		78	19	1	0	4.81439e-37	1	6.93071e-37	78	19				
KTN1	3895	broad.mit.edu	37	14	56078943	56078943	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:56078943G>T	ENST00000395314.3	+	2	245	c.177G>T	c.(175-177)aaG>aaT	p.K59N	KTN1_ENST00000395311.1_Missense_Mutation_p.K59N|KTN1_ENST00000416613.1_Missense_Mutation_p.K59N|KTN1_ENST00000395309.3_Missense_Mutation_p.K59N|KTN1_ENST00000395308.1_Missense_Mutation_p.K59N|KTN1_ENST00000438792.2_Missense_Mutation_p.K59N|KTN1_ENST00000413890.2_Missense_Mutation_p.K59N	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	59					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						aagcagaaaagaaaaagaata	0.338			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(175-177)aaG>aaT		kinectin 1 (kinesin receptor)							33.0	36.0	35.0					14																	56078943		2200	4297	6497	SO:0001583	missense	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56078943G>T		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.177G>T	14.37:g.56078943G>T	ENSP00000378725:p.Lys59Asn					KTN1_ENST00000413890.2_Missense_Mutation_p.K59N|KTN1_ENST00000395311.1_Missense_Mutation_p.K59N|KTN1_ENST00000395314.3_Missense_Mutation_p.K59N|KTN1_ENST00000395309.3_Missense_Mutation_p.K59N|KTN1_ENST00000438792.2_Missense_Mutation_p.K59N|KTN1_ENST00000395308.1_Missense_Mutation_p.K59N	p.K59N			Q86UP2	KTN1_HUMAN			1	249	+			59					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.177G>T	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152543	0.78001	.	.	ENSG00000126777	ENST00000557267;ENST00000413890;ENST00000395309;ENST00000555498;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D;D;D	0.99129	-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46	5.25	5.25	0.73442	.	0.111321	0.39615	N	0.001312	D	0.98839	0.9608	L	0.53249	1.67	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.98951	1.0794	10	0.66056	D	0.02	-11.8272	12.2156	0.54404	0.0782:0.0:0.9218:0.0	.	59;59;59;59	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	N	59	ENSP00000451641:K59N;ENSP00000394992:K59N;ENSP00000378720:K59N;ENSP00000451878:K59N;ENSP00000391964:K59N;ENSP00000378725:K59N;ENSP00000378719:K59N;ENSP00000378722:K59N;ENSP00000388807:K59N	ENSP00000378719:K59N	K	+	3	2	KTN1	55148696	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.855000	0.62925	2.448000	0.82819	0.591000	0.81541	AAG		0.338	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			12	29	1	0	3.07112e-06	1	3.42433e-06	12	29				
FOXJ3	22887	broad.mit.edu	37	1	42744276	42744276	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:42744276C>T	ENST00000372572.1	-	5	423	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	FOXJ3_ENST00000372573.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A38T	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	38					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTTTGGATGGCTGCTCTCATG	0.433																																						ENST00000372572.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(112-114)Gcc>Acc		forkhead box J3							175.0	166.0	169.0					1																	42744276		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42744276C>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.112G>A	1.37:g.42744276C>T	ENSP00000361653:p.Ala38Thr					FOXJ3_ENST00000361346.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A38T	p.A38T	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN			5	423	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	38					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.112G>A	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608582	0.28623	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	D;D;D;D;D;D	0.93906	-3.3;-3.3;-3.3;-3.15;-3.3;-3.31	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	D	0.91958	0.7453	N	0.19112	0.55	0.80722	D	1	B;D	0.76494	0.383;0.999	B;D	0.63793	0.316;0.918	D	0.87326	0.2321	10	0.05351	T	0.99	.	17.5103	0.87758	0.0:1.0:0.0:0.0	.	38;38	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	T	38	ENSP00000361654:A38T;ENSP00000361653:A38T;ENSP00000354620:A38T;ENSP00000354449:A38T;ENSP00000439044:A38T;ENSP00000393408:A38T	ENSP00000354620:A38T	A	-	1	0	FOXJ3	42516863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.639000	0.67868	2.736000	0.93811	0.557000	0.71058	GCC		0.433	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		8	115	0	0	0	1	0	8	115				
OR2M3	127062	broad.mit.edu	37	1	248366810	248366810	+	Silent	SNP	T	T	C	rs150518305	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248366810T>C	ENST00000456743.1	+	1	479	c.441T>C	c.(439-441)ttT>ttC	p.F147F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			TGACTGCCTTTTCCTGGATCC	0.453													t|||	7	0.00139776	0.0	0.0043	5008	,	,		19433	0.0		0.001	False		,,,				2504	0.0031					ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(439-441)ttT>ttC		olfactory receptor, family 2, subfamily M, member 3		T		1,4405	2.1+/-5.4	0,1,2202	204.0	200.0	201.0		441	-5.1	0.0	1	dbSNP_134	201	34,8566	22.8+/-68.1	0,34,4266	no	coding-synonymous	OR2M3	NM_001004689.1		0,35,6468	CC,CT,TT		0.3953,0.0227,0.2691		147/313	248366810	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366810T>C		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.441T>C	1.37:g.248366810T>C							p.F147F	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	479	+	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)		147					B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.441T>C	CCDS31107.1																																																																																				0.453	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		7	217	0	0	0	1	0	7	217				
VIP	7432	broad.mit.edu	37	6	153076473	153076473	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:153076473A>C	ENST00000367244.3	+	4	472	c.300A>C	c.(298-300)aaA>aaC	p.K100N	VIP_ENST00000367243.3_Missense_Mutation_p.K100N	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	100					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TTTCTGCCAAAAAGTACCTTG	0.308																																						ENST00000367244.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6						c.(298-300)aaA>aaC		vasoactive intestinal peptide							62.0	63.0	63.0					6																	153076473		2203	4300	6503	SO:0001583	missense	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153076473A>C		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.300A>C	6.37:g.153076473A>C	ENSP00000356213:p.Lys100Asn					VIP_ENST00000367243.3_Missense_Mutation_p.K100N	p.K100N	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	4	472	+		Ovarian(120;0.0654)	100					Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	ENST00000367244.3	37	c.300A>C	CCDS5240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.36|19.36	3.812600|3.812600	0.70912|0.70912	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000367244;ENST00000367243|ENST00000431366	T;T|T	0.44083|0.36699	0.93;0.93|1.24	6.06|6.06	2.4|2.4	0.29515|0.29515	Glucagon/GIP/secretin/VIP (3);|.	0.140154|0.140154	0.64402|0.64402	D|N	0.000006|0.000006	T|T	0.29524|0.29524	0.0736|0.0736	M|M	0.81802|0.81802	2.56|2.56	0.37847|0.37847	D|D	0.929242|0.929242	D;D;P|.	0.60575|.	0.988;0.985;0.866|.	P;P;P|.	0.62435|.	0.902;0.809;0.735|.	T|T	0.21793|0.21793	-1.0235|-1.0235	10|8	0.72032|0.15066	D|T	0.01|0.55	.|.	9.4019|9.4019	0.38437|0.38437	0.712:0.0:0.288:0.0|0.712:0.0:0.288:0.0	.|.	100;100;100|.	A8K7E4;P01282-2;P01282|.	.;.;VIP_HUMAN|.	N|Q	100|50	ENSP00000356213:K100N;ENSP00000356212:K100N|ENSP00000410356:K50Q	ENSP00000356212:K100N|ENSP00000410356:K50Q	K|K	+|+	3|1	2|0	VIP|VIP	153118166|153118166	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.975000|0.975000	0.68041|0.68041	0.750000|0.750000	0.26334|0.26334	0.186000|0.186000	0.20125|0.20125	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.308	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1			10	21	0	0	0	1	0	10	21				
E2F8	79733	broad.mit.edu	37	11	19247366	19247366	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19247366A>G	ENST00000527884.1	-	11	2171	c.1939T>C	c.(1939-1941)Tcc>Ccc	p.S647P	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'UTR|E2F8_ENST00000250024.4_Missense_Mutation_p.S647P	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	647					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCCCAGGGATGAGCACTGC	0.453																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1939-1941)Tcc>Ccc		E2F transcription factor 8							177.0	185.0	182.0					11																	19247366		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19247366A>G		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1939T>C	11.37:g.19247366A>G	ENSP00000434199:p.Ser647Pro					E2F8_ENST00000250024.4_Missense_Mutation_p.S647P|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'UTR	p.S647P	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			11	2171	-			647					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.1939T>C	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569961	0.28003	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.24908	1.83;1.83	5.8	-2.88	0.05682	.	0.532223	0.20977	N	0.082291	T	0.18635	0.0447	M	0.63428	1.95	0.24382	N	0.994783	B	0.23735	0.09	B	0.28638	0.092	T	0.19943	-1.0290	10	0.35671	T	0.21	-2.9551	1.1474	0.01778	0.2791:0.3449:0.1377:0.2383	.	647	A0AVK6	E2F8_HUMAN	P	647	ENSP00000434199:S647P;ENSP00000250024:S647P	ENSP00000250024:S647P	S	-	1	0	E2F8	19203942	0.957000	0.32711	0.916000	0.36221	0.974000	0.67602	0.889000	0.28282	-0.830000	0.04262	-0.438000	0.05819	TCC		0.453	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		77	149	0	0	0	1	0	77	149				
TATDN2	9797	broad.mit.edu	37	3	10311962	10311962	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:10311962G>A	ENST00000287652.4	+	4	2147	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.D366N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	366					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTTCACCACCGACTATGTCAT	0.537																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1096-1098)Gac>Aac		TatD DNase domain containing 2							164.0	158.0	160.0					3																	10311962		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10311962G>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1096G>A	3.37:g.10311962G>A	ENSP00000287652:p.Asp366Asn					RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.D366N	p.D366N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2147	+			366					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1096G>A	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943814	0.73672	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.44881	0.91;0.91	4.73	3.78	0.43462	.	0.000000	0.35615	U	0.003097	T	0.46444	0.1393	M	0.64997	1.995	0.29128	N	0.879817	D	0.67145	0.996	P	0.51385	0.668	T	0.49986	-0.8880	10	0.87932	D	0	-25.7151	7.6529	0.28358	0.0:0.1779:0.6386:0.1835	.	366	Q93075	TATD2_HUMAN	N	366	ENSP00000287652:D366N;ENSP00000408736:D366N	ENSP00000287652:D366N	D	+	1	0	TATDN2	10286962	0.998000	0.40836	0.998000	0.56505	0.709000	0.40893	3.069000	0.50026	2.353000	0.79882	0.644000	0.83932	GAC		0.537	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		56	93	0	0	0	1	0	56	93				
ARHGEF5	7984	broad.mit.edu	37	7	144060321	144060321	+	Missense_Mutation	SNP	G	G	A	rs578046612	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:144060321G>A	ENST00000056217.5	+	2	733	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	187					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCTCCCTGCGAAGAGCATCC	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		34691	0.0		0.0	False		,,,				2504	0.002					ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(559-561)Gaa>Aaa		Rho guanine nucleotide exchange factor (GEF) 5							103.0	111.0	108.0					7																	144060321		2182	4265	6447	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060321G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.559G>A	7.37:g.144060321G>A	ENSP00000056217:p.Glu187Lys						p.E187K	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	733	+	Melanoma(164;0.14)		187					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.559G>A	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	8.445	0.851688	0.17034	.	.	ENSG00000050327	ENST00000056217	T	0.74421	-0.84	4.19	-1.26	0.09376	.	0.425065	0.17133	N	0.185749	T	0.51483	0.1677	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.25328	-1.0135	9	.	.	.	.	4.8559	0.13559	0.4163:0.1511:0.4326:0.0	.	187	Q12774	ARHG5_HUMAN	K	187	ENSP00000056217:E187K	.	E	+	1	0	ARHGEF5	143691254	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.482000	0.06544	-0.517000	0.06461	-1.172000	0.01736	GAA		0.507	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		40	117	0	0	0	1	0	40	117				
WAS	7454	broad.mit.edu	37	X	48549533	48549533	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48549533G>T	ENST00000376701.4	+	12	1564	c.1489G>T	c.(1489-1491)Gat>Tat	p.D497Y		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	497	Asp/Glu-rich (acidic).				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TGAAGATGAAGATGATGAATG	0.597			"""Mis, N, F, S"""			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1489-1491)Gat>Tat		Wiskott-Aldrich syndrome							296.0	185.0	222.0					X																	48549533		2203	4300	6503	SO:0001583	missense	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48549533G>T	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1489G>T	X.37:g.48549533G>T	ENSP00000365891:p.Asp497Tyr						p.D497Y	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			12	1564	+		all_lung(315;1.27e-10)	497			Asp/Glu-rich (acidic).		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.1489G>T	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	9.090	1.001593	0.19121	.	.	ENSG00000015285	ENST00000376701	D	0.99872	-7.37	4.7	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	M	0.89095	3.005	0.44611	D	0.997587	P	0.43287	0.802	B	0.42245	0.381	D	0.97532	1.0080	10	0.87932	D	0	-10.4696	10.1563	0.42825	0.0:0.1984:0.8016:0.0	.	497	P42768	WASP_HUMAN	Y	497	ENSP00000365891:D497Y	ENSP00000365891:D497Y	D	+	1	0	WAS	48434477	1.000000	0.71417	0.200000	0.23457	0.747000	0.42532	5.925000	0.70062	0.876000	0.35872	0.597000	0.82753	GAT		0.597	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		23	35	1	0	6.36457e-07	1	7.23721e-07	23	35				
WSB2	55884	broad.mit.edu	37	12	118474182	118474182	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118474182A>C	ENST00000315436.3	-	6	935	c.794T>G	c.(793-795)aTg>aGg	p.M265R	WSB2_ENST00000441406.2_Missense_Mutation_p.M282R|WSB2_ENST00000542304.1_Missense_Mutation_p.M40R|WSB2_ENST00000544233.1_Missense_Mutation_p.M55R|WSB2_ENST00000535496.1_Missense_Mutation_p.M267R|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	265					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTCCCACATAATCACATT	0.532																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(793-795)aTg>aGg		WD repeat and SOCS box containing 2							154.0	143.0	147.0					12																	118474182		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118474182A>C	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.794T>G	12.37:g.118474182A>C	ENSP00000319474:p.Met265Arg					WSB2_ENST00000544233.1_Missense_Mutation_p.M55R|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_Missense_Mutation_p.M40R|WSB2_ENST00000441406.2_Missense_Mutation_p.M282R|WSB2_ENST00000535496.1_Missense_Mutation_p.M267R	p.M265R	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			6	935	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		265					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.794T>G	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939492	0.73557	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.083978	0.85682	D	0.000000	T	0.50188	0.1601	L	0.45285	1.41	0.58432	D	0.999997	P	0.37176	0.586	B	0.32724	0.151	T	0.56697	-0.7936	10	0.87932	D	0	-23.9134	15.5638	0.76273	1.0:0.0:0.0:0.0	.	265	Q9NYS7	WSB2_HUMAN	R	265;40;282;55;267	ENSP00000319474:M265R;ENSP00000445941:M40R;ENSP00000409131:M282R;ENSP00000444431:M55R;ENSP00000439450:M267R	ENSP00000319474:M265R	M	-	2	0	WSB2	116958565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.292000	0.96076	2.153000	0.67306	0.533000	0.62120	ATG		0.532	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		54	114	0	0	0	1	0	54	114				
TRANK1	9881	broad.mit.edu	37	3	36897903	36897903	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36897903C>T	ENST00000429976.2	-	12	3425	c.3178G>A	c.(3178-3180)Gca>Aca	p.A1060T	TRANK1_ENST00000428977.2_Missense_Mutation_p.A510T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A510T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1060							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGGCTTCCTGCCTGCTCAGCT	0.527																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(3178-3180)Gca>Aca		tetratricopeptide repeat and ankyrin repeat containing 1							30.0	31.0	31.0					3																	36897903		1927	4139	6066	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897903C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3178G>A	3.37:g.36897903C>T	ENSP00000416168:p.Ala1060Thr					TRANK1_ENST00000428977.2_Missense_Mutation_p.A510T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A510T	p.A1060T			O15050	TRNK1_HUMAN			12	3425	-			1060					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.3178G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941510	0.34283	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.82255	-1.59;-1.59;-1.59	5.31	4.42	0.53409	.	0.106736	0.41097	D	0.000959	T	0.79587	0.4471	M	0.66939	2.045	0.39687	D	0.970986	P	0.35745	0.518	B	0.37650	0.255	T	0.75563	-0.3274	10	0.22706	T	0.39	.	8.9545	0.35809	0.1494:0.7764:0.0:0.0742	.	1060	O15050	TRNK1_HUMAN	T	510;1060;510	ENSP00000416826:A510T;ENSP00000416168:A1060T;ENSP00000301807:A510T	ENSP00000301807:A510T	A	-	1	0	TRANK1	36872907	0.992000	0.36948	1.000000	0.80357	0.912000	0.54170	2.499000	0.45372	1.346000	0.45694	0.561000	0.74099	GCA		0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		14	25	0	0	0	1	0	14	25				
NAV3	89795	broad.mit.edu	37	12	78225316	78225316	+	Silent	SNP	G	G	A	rs369240432		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78225316G>A	ENST00000397909.2	+	1	248	c.75G>A	c.(73-75)ccG>ccA	p.P25P	NAV3_ENST00000266692.7_Silent_p.P25P|NAV3_ENST00000536525.2_Silent_p.P25P|NAV3_ENST00000228327.6_Silent_p.P25P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	25						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGCTCTTCCGATACCAAATC	0.463										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(73-75)ccG>ccA		neuron navigator 3							145.0	141.0	143.0					12																	78225316		1916	4131	6047	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225316G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.75G>A	12.37:g.78225316G>A		HNSCC(70;0.22)				NAV3_ENST00000228327.6_Silent_p.P25P|NAV3_ENST00000266692.7_Silent_p.P25P|NAV3_ENST00000536525.2_Silent_p.P25P	p.P25P			Q8IVL0	NAV3_HUMAN			1	248	+			25					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.75G>A																																																																																					0.463	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		58	121	0	0	0	1	0	58	121				
KANK4	163782	broad.mit.edu	37	1	62739628	62739628	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62739628C>A	ENST00000371153.4	-	3	1526	c.1148G>T	c.(1147-1149)aGa>aTa	p.R383I	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	383						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCTCGAATTCTTTGCTCCCT	0.537																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1147-1149)aGa>aTa		KN motif and ankyrin repeat domains 4							134.0	119.0	124.0					1																	62739628		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739628C>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1148G>T	1.37:g.62739628C>A	ENSP00000360195:p.Arg383Ile					KANK4_ENST00000354381.3_Intron	p.R383I	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1526	-			383					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1148G>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118726	0.37436	.	.	ENSG00000132854	ENST00000371153	T	0.51071	0.72	5.58	3.68	0.42216	.	0.204026	0.25270	N	0.031897	T	0.36744	0.0978	L	0.60455	1.87	0.80722	D	1	P	0.36199	0.543	B	0.27262	0.078	T	0.19192	-1.0313	10	0.51188	T	0.08	-20.3361	6.5456	0.22404	0.1468:0.7047:0.0:0.1485	.	383	Q5T7N3	KANK4_HUMAN	I	383	ENSP00000360195:R383I	ENSP00000360195:R383I	R	-	2	0	KANK4	62512216	0.869000	0.29996	1.000000	0.80357	0.021000	0.10359	0.216000	0.17585	0.694000	0.31654	-0.339000	0.08088	AGA		0.537	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		38	80	1	0	6.29468e-14	1	8.13866e-14	38	80				
JAKMIP2	9832	broad.mit.edu	37	5	147030017	147030017	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147030017T>C	ENST00000265272.5	-	4	1188	c.721A>G	c.(721-723)Aag>Gag	p.K241E	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.K199E|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.K241E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	241						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGCCTCCTTCTGAAGTTGG	0.478																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(721-723)Aag>Gag		janus kinase and microtubule interacting protein 2							134.0	125.0	128.0					5																	147030017		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147030017T>C	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.721A>G	5.37:g.147030017T>C	ENSP00000265272:p.Lys241Glu					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.K199E|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.K241E	p.K241E	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1188	-			241					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.721A>G	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	T	31	5.088521	0.94100	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.39787	1.06;1.06;1.06	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.56035	0.974;0.974;0.974;0.974	D;D;D;D	0.67725	0.953;0.953;0.953;0.953	T	0.67841	-0.5566	10	0.66056	D	0.02	.	16.1864	0.81955	0.0:0.0:0.0:1.0	.	199;241;241;241	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	E	241;241;199;241	ENSP00000421398:K241E;ENSP00000265272:K241E;ENSP00000328989:K199E	ENSP00000265272:K241E	K	-	1	0	JAKMIP2	147010210	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.470000	0.80973	2.288000	0.76882	0.533000	0.62120	AAG		0.478	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		12	49	0	0	0	1	0	12	49				
VN1R4	317703	broad.mit.edu	37	19	53770689	53770689	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770689G>T	ENST00000311170.4	-	1	283	c.230C>A	c.(229-231)gCt>gAt	p.A77D	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	77					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GCACCCAAGAGCATTGAGAAA	0.488										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(229-231)gCt>gAt		vomeronasal 1 receptor 4							39.0	38.0	38.0					19																	53770689		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770689G>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.230C>A	19.37:g.53770689G>T	ENSP00000310856:p.Ala77Asp	HNSCC(26;0.072)					p.A77D	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	283	-			77					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.230C>A	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.043482	0.00398	.	.	ENSG00000228567	ENST00000311170	T	0.07688	3.17	2.35	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.527792	0.14412	N	0.321219	T	0.01092	0.0036	N	0.00038	-2.515	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.44772	-0.9306	10	0.02654	T	1	.	6.9095	0.24327	0.0:0.0:0.2535:0.7465	.	77	Q7Z5H5	VN1R4_HUMAN	D	77	ENSP00000310856:A77D	ENSP00000310856:A77D	A	-	2	0	VN1R4	58462501	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.308000	0.19314	0.342000	0.23796	-0.637000	0.03976	GCT		0.488	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		4	58	1	0	0.150653	1	0.151842	4	58				
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077585	32077585	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:32077585G>A	ENST00000354689.6	+	0	200				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		GTGAAAGGCCGATTCACCATC	0.517																																						ENST00000354689.6																			0																																																			0							g.chr16:32077585G>A	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077585G>A						RP11-1166P10.6_ENST00000566806.1_RNA								0	200	+									RNA	SNP	ENST00000354689.6	37			.	.	.	.	.	.	.	.	.	.	G	2.372	-0.344194	0.05208	.	.	ENSG00000198229	ENST00000354689	.	.	.	.	.	.	.	.	.	.	.	T	0.46698	0.1406	.	.	.	.	.	.	.	.	.	.	.	.	T	0.55742	-0.8093	3	0.87932	D	0	.	5.89	0.18904	8.0E-4:0.0:0.9992:0.0	.	.	.	.	Q	67	.	ENSP00000346720:R67Q	R	+	2	0	AC142381.1	31985086	0.647000	0.27304	0.191000	0.23289	0.193000	0.23685	4.338000	0.59316	0.107000	0.17824	0.109000	0.15622	CGA		0.517	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			26	489	0	0	0	1	0	26	489				
LOC645752	645752	broad.mit.edu	37	15	78217391	78217391	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78217391C>A	ENST00000567226.1	-	0	111																											TGCTGATATTCTTTTAGCTGT	0.443																																						ENST00000567226.1																			0																																																			0							g.chr15:78217391C>A																													15.37:g.78217391C>A														0	111	-									RNA	SNP	ENST00000567226.1	37																																																																																						0.443	RP11-114H24.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000421586.1			18	27	1	0	6.49762e-13	1	8.24929e-13	18	27				
ZNF804A	91752	broad.mit.edu	37	2	185798421	185798421	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:185798421G>A	ENST00000302277.6	+	3	941	c.347G>A	c.(346-348)cGc>cAc	p.R116H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCACTCCAACGCCTGCACAAG	0.403																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(346-348)cGc>cAc		zinc finger protein 804A							57.0	58.0	58.0					2																	185798421		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185798421G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.347G>A	2.37:g.185798421G>A	ENSP00000303252:p.Arg116His						p.R116H	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			3	941	+			116					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.347G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352850	0.95830	.	.	ENSG00000170396	ENST00000302277	T	0.20881	2.04	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000016	T	0.50446	0.1616	M	0.78456	2.415	0.53688	D	0.99997	D	0.89917	1.0	D	0.87578	0.998	T	0.53265	-0.8463	10	0.87932	D	0	-12.1902	18.3738	0.90428	0.0:0.0:1.0:0.0	.	116	Q7Z570	Z804A_HUMAN	H	116	ENSP00000303252:R116H	ENSP00000303252:R116H	R	+	2	0	ZNF804A	185506666	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.808000	0.99193	2.578000	0.87016	0.585000	0.79938	CGC		0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		15	24	0	0	0	1	0	15	24				
ANKRD44	91526	broad.mit.edu	37	2	197954686	197954686	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197954686A>G	ENST00000328737.2	-	11	1172	c.1096T>C	c.(1096-1098)Ttg>Ctg	p.L366L	ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000450567.1_Silent_p.L366L|ANKRD44_ENST00000337207.5_Silent_p.L366L|ANKRD44_ENST00000539527.1_Silent_p.L319L|ANKRD44_ENST00000282272.8_Silent_p.L383L|ANKRD44_ENST00000409153.1_Silent_p.L391L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	391										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATGATAACAACTTTCTGCAG	0.458																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1096-1098)Ttg>Ctg		ankyrin repeat domain 44							121.0	107.0	112.0					2																	197954686		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197954686A>G	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1096T>C	2.37:g.197954686A>G						ANKRD44_ENST00000409153.1_Silent_p.L391L|ANKRD44_ENST00000337207.5_Silent_p.L366L|ANKRD44_ENST00000450567.1_Silent_p.L366L|ANKRD44_ENST00000282272.8_Silent_p.L383L|ANKRD44_ENST00000539527.1_Silent_p.L319L	p.L366L			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		11	1172	-			391					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.1096T>C																																																																																					0.458	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		20	47	0	0	0	1	0	20	47				
RNF217-AS1	7955	broad.mit.edu	37	6	125231469	125231469	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:125231469G>T	ENST00000439075.1	-	0	3276					NR_026876.1																						CCAAATATTTGAAAAGCTGCT	0.308																																						ENST00000439075.1																			0																				52.0	51.0	51.0					6																	125231469		876	1991	2867			0							g.chr6:125231469G>T																													6.37:g.125231469G>T								NR_026876.1						0	3276	-									RNA	SNP	ENST00000439075.1	37																																																																																						0.308	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			9	14	1	0	2.17888e-05	1	2.39107e-05	9	14				
NPY4R	5540	broad.mit.edu	37	10	47087545	47087545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087545C>T	ENST00000395716.1	+	2	847	c.762C>T	c.(760-762)agC>agT	p.S254S	NPY4R_ENST00000374312.1_Silent_p.S254S			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	254					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GCACCTACAGCTTGCGAGCTG	0.597																																						ENST00000374312.1																			0											c.(760-762)agC>agT		neuropeptide Y receptor Y4							157.0	117.0	131.0					10																	47087545		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47087545C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.762C>T	10.37:g.47087545C>T						NPY4R_ENST00000395716.1_Silent_p.S254S	p.S254S	NM_005972.4	NP_005963.3					3	1181	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.762C>T	CCDS31193.1																																																																																				0.597	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			22	104	0	0	0	1	0	22	104				
NDRG1	10397	broad.mit.edu	37	8	134258875	134258875	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134258875T>C	ENST00000414097.2	-	13	1706	c.839A>G	c.(838-840)aAg>aGg	p.K280R	NDRG1_ENST00000537882.1_Missense_Mutation_p.K199R|NDRG1_ENST00000518176.1_Missense_Mutation_p.K27R|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.K214R|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000354944.5_Missense_Mutation_p.K210R|NDRG1_ENST00000323851.7_Missense_Mutation_p.K280R	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	280					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GAGAGTGGTCTTTGTTGGGTC	0.443			T	ERG	prostate																																	ENST00000414097.2				Dom	yes		8	8q24.3	10397	T	N-myc downstream regulated 1			E	ERG		prostate	NDRG1/ERG(5)	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17						c.(838-840)aAg>aGg		N-myc downstream regulated 1							161.0	148.0	153.0					8																	134258875		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134258875T>C	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.839A>G	8.37:g.134258875T>C	ENSP00000404854:p.Lys280Arg					NDRG1_ENST00000518176.1_Missense_Mutation_p.K27R|NDRG1_ENST00000354944.5_Missense_Mutation_p.K210R|NDRG1_ENST00000323851.7_Missense_Mutation_p.K280R|NDRG1_ENST00000522476.1_Missense_Mutation_p.K214R|NDRG1_ENST00000537882.1_Missense_Mutation_p.K199R|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000521414.1_5'UTR	p.K280R	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		13	1706	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		280					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.839A>G	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942249	0.53079	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000518176;ENST00000535532;ENST00000522476	T;T;T;T;T;T	0.29397	1.57;2.25;1.57;2.25;2.25;2.25	5.44	5.44	0.79542	.	0.044268	0.85682	D	0.000000	T	0.27134	0.0665	L	0.43152	1.355	0.51767	D	0.999935	B;B	0.23442	0.029;0.085	B;B	0.31686	0.053;0.134	T	0.08889	-1.0700	10	0.25751	T	0.34	-38.353	9.128	0.36828	0.0:0.0897:0.0:0.9103	.	27;280	E7ESM1;Q92597	.;NDRG1_HUMAN	R	280;210;280;199;27;108;214	ENSP00000319977:K280R;ENSP00000347028:K210R;ENSP00000404854:K280R;ENSP00000437443:K199R;ENSP00000429007:K27R;ENSP00000427894:K214R	ENSP00000319977:K280R	K	-	2	0	NDRG1	134328057	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	5.743000	0.68655	2.069000	0.61940	0.528000	0.53228	AAG		0.443	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			5	85	0	0	0	1	0	5	85				
TMEM39B	55116	broad.mit.edu	37	1	32566248	32566248	+	Intron	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:32566248G>T	ENST00000336294.5	+	8	1382				TMEM39B_ENST00000487305.1_Intron|TMEM39B_ENST00000427288.1_Nonsense_Mutation_p.E326*|TMEM39B_ENST00000373634.4_Intron	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CATTGCAAGAGAAAGCTATTT	0.512																																						ENST00000427288.1																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(976-978)Gaa>Taa		transmembrane protein 39B																																				SO:0001627	intron_variant	55116					integral to membrane		g.chr1:32566248G>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1236+85G>T	1.37:g.32566248G>T						TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000336294.5_Intron|TMEM39B_ENST00000487305.1_Intron	p.E326*			Q9GZU3	TM39B_HUMAN			9	1456	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Nonsense_Mutation	SNP	ENST00000336294.5	37	c.976G>T	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	38	6.920432	0.97936	.	.	ENSG00000121775	ENST00000427288	.	.	.	4.64	0.133	0.14766	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0543	0.01586	0.2066:0.1712:0.4322:0.1899	.	.	.	.	X	326	.	.	E	+	1	0	TMEM39B	32338835	0.002000	0.14202	0.002000	0.10522	0.934000	0.57294	0.275000	0.18698	0.224000	0.20940	0.655000	0.94253	GAA		0.512	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		9	15	1	0	0.0477658	1	0.0484551	9	15				
KLC1	3831	broad.mit.edu	37	14	104143808	104143808	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:104143808A>C	ENST00000348520.6	+	12	1755	c.1436A>C	c.(1435-1437)aAa>aCa	p.K479T	KLC1_ENST00000557450.1_Missense_Mutation_p.K479T|KLC1_ENST00000347839.6_Missense_Mutation_p.K479T|KLC1_ENST00000380038.3_Missense_Mutation_p.K479T|KLC1_ENST00000452929.2_Missense_Mutation_p.K479T|KLC1_ENST00000334553.6_Missense_Mutation_p.K479T|KLC1_ENST00000389744.4_Missense_Mutation_p.K479T|KLC1_ENST00000555836.1_Missense_Mutation_p.K479T|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.K651T|KLC1_ENST00000553286.1_Missense_Mutation_p.K479T|KLC1_ENST00000445352.4_Missense_Mutation_p.K477T|KLC1_ENST00000246489.7_Missense_Mutation_p.K479T|KLC1_ENST00000554280.1_Missense_Mutation_p.K479T|KLC1_ENST00000557575.1_Missense_Mutation_p.K479T	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	479					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				CGTCAAGGCAAATTTGAAGCT	0.418																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(1435-1437)aAa>aCa		kinesin light chain 1							145.0	141.0	142.0					14																	104143808		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104143808A>C	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1436A>C	14.37:g.104143808A>C	ENSP00000341154:p.Lys479Thr					KLC1_ENST00000347839.6_Missense_Mutation_p.K479T|KLC1_ENST00000445352.4_Missense_Mutation_p.K477T|KLC1_ENST00000557575.1_Missense_Mutation_p.K479T|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.K651T|KLC1_ENST00000380038.3_Missense_Mutation_p.K479T|KLC1_ENST00000555836.1_Missense_Mutation_p.K479T|KLC1_ENST00000557450.1_Missense_Mutation_p.K479T|KLC1_ENST00000246489.7_Missense_Mutation_p.K479T|KLC1_ENST00000348520.6_Missense_Mutation_p.K479T|KLC1_ENST00000452929.2_Missense_Mutation_p.K479T|KLC1_ENST00000554280.1_Missense_Mutation_p.K479T|KLC1_ENST00000553286.1_Missense_Mutation_p.K479T|KLC1_ENST00000334553.6_Missense_Mutation_p.K479T	p.K479T			Q07866	KLC1_HUMAN			12	1705	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	479					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.1436A>C	CCDS41996.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	29.5|29.5|29.5	5.009087|5.009087|5.009087	0.93346|0.93346|0.93346	.|.|.	.|.|.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500|ENSG00000126214|ENSG00000126214	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726|ENST00000553325;ENST00000553436;ENST00000555856|ENST00000537046	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.65549|.|.	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16|.|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.|.	0.042909|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.77301|0.77301|0.77301	0.4110|0.4110|0.4110	M|M|M	0.81497|0.81497|0.81497	2.545|2.545|2.545	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D|.|.	0.89917|.|.	0.999;0.977;0.998;0.992;1.0|.|.	D;P;D;D;D|.|.	0.83275|.|.	0.996;0.873;0.991;0.986;0.994|.|.	T|T|T	0.78976|0.78976|0.78976	-0.1991|-0.1991|-0.1991	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	-16.6531|-16.6531|-16.6531	15.9355|15.9355|15.9355	0.79704|0.79704|0.79704	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	479;479;651;479;477|.|.	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8|.|.	.;.;.;KLC1_HUMAN;.|.|.	T|H|H	479;479;479;479;479;479;479;479;479;479;479;479;479;477;651|59;55;53|84	ENSP00000341154:K479T;ENSP00000369377:K479T;ENSP00000374394:K479T;ENSP00000450617:K479T;ENSP00000452487:K479T;ENSP00000334618:K479T;ENSP00000452481:K479T;ENSP00000334523:K479T;ENSP00000246489:K479T;ENSP00000450648:K479T;ENSP00000451242:K479T;ENSP00000414982:K479T;ENSP00000412693:K477T;ENSP00000439065:K651T|.|.	ENSP00000246489:K479T|.|.	K|N|Q	+|+|+	2|1|3	0|0|2	KLC1;RP11-73M18.2|KLC1|KLC1	103213561|103213561|103213561	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.972000|0.972000|0.972000	0.66771|0.66771|0.66771	9.287000|9.287000|9.287000	0.95975|0.95975|0.95975	2.234000|2.234000|2.234000	0.73211|0.73211|0.73211	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AAA|AAT|CAA		0.418	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		45	52	0	0	0	1	0	45	52				
PADI1	29943	broad.mit.edu	37	1	17567222	17567222	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17567222A>C	ENST00000375471.4	+	15	1817	c.1725A>C	c.(1723-1725)aaA>aaC	p.K575N	PADI1_ENST00000537499.1_Missense_Mutation_p.K132N|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Intron|PADI1_ENST00000536552.1_Missense_Mutation_p.K46N	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	575					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TCTTCCTGAAAAACTTCTACG	0.577																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1723-1725)aaA>aaC		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						112.0	109.0	110.0					1																	17567222		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17567222A>C	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1725A>C	1.37:g.17567222A>C	ENSP00000364620:p.Lys575Asn					PADI1_ENST00000413717.2_Intron|PADI1_ENST00000537499.1_Missense_Mutation_p.K132N|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Missense_Mutation_p.K46N	p.K575N	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	15	1817	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	575					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1725A>C	CCDS178.1	.	.	.	.	.	.	.	.	.	.	A	2.070	-0.413236	0.04799	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000536552	T;T;T	0.23348	1.91;1.91;1.91	3.91	-0.398	0.12418	Protein-arginine deiminase, C-terminal (1);	1.448820	0.03834	N	0.269551	T	0.20129	0.0484	L	0.39898	1.24	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29305	-1.0016	10	0.48119	T	0.1	-9.5816	2.9529	0.05867	0.0936:0.257:0.4039:0.2454	.	575	Q9ULC6	PADI1_HUMAN	N	575;132;46	ENSP00000364620:K575N;ENSP00000444032:K132N;ENSP00000444833:K46N	ENSP00000364620:K575N	K	+	3	2	PADI1	17439809	0.000000	0.05858	0.007000	0.13788	0.000000	0.00434	-2.081000	0.01367	0.332000	0.23536	-1.223000	0.01593	AAA		0.577	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		52	75	0	0	0	1	0	52	75				
SYNM	23336	broad.mit.edu	37	15	99672121	99672121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:99672121G>T	ENST00000336292.6	+	5	3673	c.3553G>T	c.(3553-3555)Gaa>Taa	p.E1185*	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1186	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ACTGTCCAGAGAAGTCATCTT	0.627																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(3553-3555)Gaa>Taa		synemin, intermediate filament protein							26.0	28.0	28.0					15																	99672121		2011	4169	6180	SO:0001587	stop_gained	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672121G>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3553G>T	15.37:g.99672121G>T	ENSP00000336775:p.Glu1185*					SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	p.E1185*	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	3673	+			1186			Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000336292.6	37	c.3553G>T		.	.	.	.	.	.	.	.	.	.	G	42	9.604465	0.99217	.	.	ENSG00000182253	ENST00000336292	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	13.4706	0.61279	0.0:0.1563:0.8437:0.0	.	.	.	.	X	1185	.	ENSP00000336775:E1185X	E	+	1	0	SYNM	97489644	0.977000	0.34250	0.590000	0.28732	0.012000	0.07955	1.454000	0.35178	2.451000	0.82905	0.655000	0.94253	GAA		0.627	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		16	25	1	0	1.5739e-10	1	1.93697e-10	16	25				
CTB-134H23.3	0	broad.mit.edu	37	16	29113355	29113355	+	RNA	SNP	G	G	A	rs368085459	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:29113355G>A	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAACAATCGCCAGATGCTG	0.498													.|||	6	0.00119808	0.0045	0.0	5008	,	,		16259	0.0		0.0	False		,,,				2504	0.0					ENST00000564580.1																			0																																																			0							g.chr16:29113355G>A																													16.37:g.29113355G>A														0	1255	+									RNA	SNP	ENST00000562618.1	37			.	.	.	.	.	.	.	.	.	.	a	9.106	1.005305	0.19199	.	.	ENSG00000103472	ENST00000427965	.	.	.	2.2	1.21	0.21127	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	.	.	.	.	.	.	.	.	.	.	.	.	T	0.62450	-0.6852	5	0.72032	D	0.01	.	6.942	0.24498	0.1542:0.0:0.8458:0.0	.	.	.	.	H	416	.	ENSP00000398611:R416H	R	+	2	0	AC009093.1	29020856	1.000000	0.71417	0.987000	0.45799	0.758000	0.43043	6.263000	0.72521	0.269000	0.21961	-0.530000	0.04314	CGC		0.498	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			15	26	0	0	0	1	0	15	26				
UHRF1BP1L	23074	broad.mit.edu	37	12	100453047	100453047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100453047C>A	ENST00000279907.7	-	14	2220	c.2008G>T	c.(2008-2010)Gaa>Taa	p.E670*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.E320*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	670										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTATAAATTTCATGCATTTTG	0.338																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2008-2010)Gaa>Taa		UHRF1 binding protein 1-like							63.0	73.0	70.0					12																	100453047		2203	4299	6502	SO:0001587	stop_gained	23074							g.chr12:100453047C>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2008G>T	12.37:g.100453047C>A	ENSP00000279907:p.Glu670*					UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.E320*	p.E670*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2220	-			670					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Nonsense_Mutation	SNP	ENST00000279907.7	37	c.2008G>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	38	6.792729	0.97841	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	.	.	.	5.78	5.78	0.91487	.	0.200017	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-11.6283	20.0118	0.97458	0.0:1.0:0.0:0.0	.	.	.	.	X	670;320	.	ENSP00000279907:E670X	E	-	1	0	UHRF1BP1L	98977178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.679000	0.61649	2.742000	0.94016	0.650000	0.86243	GAA		0.338	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		25	44	1	0	1.1804e-14	1	1.54286e-14	25	44				
INTS10	55174	broad.mit.edu	37	8	19684066	19684066	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19684066C>A	ENST00000397977.3	+	9	1534	c.1136C>A	c.(1135-1137)aCc>aAc	p.T379N		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	379					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGAGAAAAAACCATGGTAAGG	0.343																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1135-1137)aCc>aAc		integrator complex subunit 10							85.0	78.0	80.0					8																	19684066		1835	4083	5918	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19684066C>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1136C>A	8.37:g.19684066C>A	ENSP00000381064:p.Thr379Asn						p.T379N	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	9	1534	+			379					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1136C>A	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.661301|4.661301	0.88154|0.88154	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523846|ENST00000397977	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.201667	.|0.51477	.|D	.|0.000082	T|T	0.49490|0.49490	0.1560|0.1560	L|L	0.38531|0.38531	1.155|1.155	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.36144	.|0.539	.|B	.|0.30782	.|0.12	T|T	0.54050|0.54050	-0.8351|-0.8351	5|9	.|0.66056	.|D	.|0.02	-3.7649|-3.7649	18.5553|18.5553	0.91081|0.91081	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|379	.|Q9NVR2	.|INT10_HUMAN	T|N	155|379	.|.	.|ENSP00000381064:T379N	P|T	+|+	1|2	0|0	INTS10|INTS10	19728346|19728346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	5.203000|5.203000	0.65174|0.65174	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.343	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		13	23	1	0	0.00136819	1	0.00143372	13	23				
NRD1	4898	broad.mit.edu	37	1	52271205	52271205	+	Silent	SNP	C	C	T	rs113829213	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52271205C>T	ENST00000354831.7	-	21	2532	c.2343G>A	c.(2341-2343)ccG>ccA	p.P781P	NRD1_ENST00000544028.1_Silent_p.P581P|NRD1_ENST00000352171.7_Silent_p.P713P|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Silent_p.P649P	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	712					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCTGTATCAACGGTGAAATTA	0.289													G|||	4	0.000798722	0.003	0.0	5008	,	,		16278	0.0		0.0	False		,,,				2504	0.0					ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2341-2343)ccG>ccA		nardilysin (N-arginine dibasic convertase)		G	,,	17,4373		0,17,2178	33.0	37.0	36.0		2139,1947,2343	2.3	1.0	1	dbSNP_132	36	0,8556		0,0,4278	no	coding-synonymous,coding-synonymous,coding-synonymous	NRD1	NM_001101662.1,NM_001242361.1,NM_002525.2	,,	0,17,6456	TT,TC,CC		0.0,0.3872,0.1313	,,	713/1152,649/1088,781/1220	52271205	17,12929	2195	4278	6473	SO:0001819	synonymous_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52271205C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2343G>A	1.37:g.52271205C>T						NRD1_ENST00000352171.7_Silent_p.P713P|NRD1_ENST00000539524.1_Silent_p.P649P|NRD1_ENST00000544028.1_Silent_p.P581P|NRD1_ENST00000485608.1_5'UTR	p.P781P	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			21	2532	-			712					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	c.2343G>A	CCDS559.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.43	2.830685	0.50845	0.003872	0.0	ENSG00000078618	ENST00000440943	.	.	.	5.71	2.26	0.28386	.	.	.	.	.	T	0.43656	0.1257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25984	-1.0116	4	.	.	.	-12.6234	2.136	0.03762	0.4241:0.286:0.186:0.1039	.	.	.	.	I	128	.	.	V	-	1	0	NRD1	52043793	0.439000	0.25610	1.000000	0.80357	0.973000	0.67179	-0.099000	0.11007	0.459000	0.27016	-1.104000	0.02111	GTT		0.289	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		15	18	0	0	0	1	0	15	18				
UNC5D	137970	broad.mit.edu	37	8	35583744	35583744	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:35583744C>A	ENST00000404895.2	+	10	1706	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	UNC5D_ENST00000287272.2_Missense_Mutation_p.L391M|UNC5D_ENST00000416672.1_Missense_Mutation_p.L465M|UNC5D_ENST00000449677.1_Missense_Mutation_p.L36M|UNC5D_ENST00000453357.2_Missense_Mutation_p.L455M|UNC5D_ENST00000420357.1_Missense_Mutation_p.L393M	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	460					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACCCATCTGTCTGCAGGACCC	0.502																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1171-1173)Ctg>Atg		unc-5 homolog D (C. elegans)							63.0	61.0	62.0					8																	35583744		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583744C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1378C>A	8.37:g.35583744C>A	ENSP00000385143:p.Leu460Met					UNC5D_ENST00000453357.2_Missense_Mutation_p.L455M|UNC5D_ENST00000420357.1_Missense_Mutation_p.L393M|UNC5D_ENST00000404895.2_Missense_Mutation_p.L460M|UNC5D_ENST00000449677.1_Missense_Mutation_p.L36M|UNC5D_ENST00000416672.1_Missense_Mutation_p.L465M	p.L391M			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1191	+			460					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1171C>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661245	0.67700	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.57752	0.41;0.83;0.81;0.41;0.38;1.76	6.04	5.17	0.71159	.	0.239499	0.42172	D	0.000742	T	0.49932	0.1586	L	0.29908	0.895	0.40970	D	0.984699	P;P;D;P	0.53151	0.93;0.93;0.958;0.93	P;P;P;P	0.51135	0.467;0.459;0.66;0.459	T	0.53975	-0.8362	10	0.54805	T	0.06	-12.2544	11.5696	0.50826	0.0:0.8639:0.0:0.1361	.	36;465;455;460	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	M	460;393;391;465;455;36	ENSP00000385143:L460M;ENSP00000392739:L393M;ENSP00000287272:L391M;ENSP00000412652:L465M;ENSP00000394303:L455M;ENSP00000397211:L36M	ENSP00000287272:L391M	L	+	1	2	UNC5D	35703286	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	3.649000	0.54417	1.574000	0.49760	-0.244000	0.11960	CTG		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			7	69	1	0	1.12685e-05	1	1.24509e-05	7	69				
ATRX	546	broad.mit.edu	37	X	76813007	76813007	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76813007G>T	ENST00000373344.5	-	30	6828	c.6614C>A	c.(6613-6615)aCt>aAt	p.T2205N	ATRX_ENST00000395603.3_Missense_Mutation_p.T2167N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2205	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATAAAGTTCAGTAAGCTCATT	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6613-6615)aCt>aAt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						149.0	139.0	142.0					X																	76813007		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813007G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6614C>A	X.37:g.76813007G>T	ENSP00000362441:p.Thr2205Asn					ATRX_ENST00000395603.3_Missense_Mutation_p.T2167N|ATRX_ENST00000480283.1_5'UTR	p.T2205N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6828	-			2205			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6614C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366091	0.61513	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92299	-3.01;-3.01	5.56	5.56	0.83823	Helicase, C-terminal (1);	0.133660	0.50627	D	0.000104	D	0.93690	0.7984	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.957	D	0.91542	0.5250	10	0.19147	T	0.46	-12.638	18.5299	0.90987	0.0:0.0:1.0:0.0	.	2167;2205	P46100-4;P46100	.;ATRX_HUMAN	N	2205;2167	ENSP00000362441:T2205N;ENSP00000378967:T2167N	ENSP00000362441:T2205N	T	-	2	0	ATRX	76699663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.319000	0.78375	0.594000	0.82650	ACT		0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	94	1	0	1.05317e-09	1	1.27574e-09	14	94				
FBXL3	26224	broad.mit.edu	37	13	77581885	77581885	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:77581885C>A	ENST00000355619.5	-	5	1006	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	228					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		AGGGCTAGTTCTCTTAAGCCG	0.343																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(682-684)Gaa>Taa		F-box and leucine-rich repeat protein 3							76.0	75.0	75.0					13																	77581885		2203	4300	6503	SO:0001587	stop_gained	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581885C>A	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.682G>T	13.37:g.77581885C>A	ENSP00000347834:p.Glu228*					FBXL3_ENST00000477982.1_Intron	p.E228*	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1006	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	228					B2RB04|Q9P122	Nonsense_Mutation	SNP	ENST00000355619.5	37	c.682G>T	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	37	6.107474	0.97291	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-21.1489	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	228;180	.	ENSP00000347834:E228X	E	-	1	0	FBXL3	76479886	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	GAA		0.343	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			4	36	1	0	2.56e-06	1	2.86294e-06	4	36				
WSCD2	9671	broad.mit.edu	37	12	108626509	108626509	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108626509C>T	ENST00000332082.4	+	8	1799	c.981C>T	c.(979-981)gaC>gaT	p.D327D	WSCD2_ENST00000549903.1_Splice_Site_p.D327D|WSCD2_ENST00000261400.3_Splice_Site_p.D327D|WSCD2_ENST00000547525.1_Splice_Site_p.D327D			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	327						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ccttttCAGACAACCGTTGCA	0.592																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.e8-1		WSC domain containing 2							34.0	31.0	32.0					12																	108626509		2011	4185	6196	SO:0001630	splice_region_variant	9671					integral to membrane		g.chr12:108626509C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.980-1C>T	12.37:g.108626509C>T						WSCD2_ENST00000261400.3_Splice_Site_p.D327_splice|WSCD2_ENST00000549903.1_Splice_Site_p.D327_splice|WSCD2_ENST00000547525.1_Splice_Site_p.D327_splice	p.D327_splice			Q2TBF2	WSCD2_HUMAN			8	1799	+			327					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Splice_Site	SNP	ENST00000332082.4	37	c.979_splice	CCDS41828.1																																																																																				0.592	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	Silent	13	18	0	0	0	1	0	13	18				
DNAH3	55567	broad.mit.edu	37	16	21011661	21011661	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21011661A>T	ENST00000261383.3	-	43	6305	c.6306T>A	c.(6304-6306)aaT>aaA	p.N2102K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2102	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGCAGAGAAATTGATGCAGT	0.517																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(6304-6306)aaT>aaA		dynein, axonemal, heavy chain 3							182.0	143.0	157.0					16																	21011661		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21011661A>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6306T>A	16.37:g.21011661A>T	ENSP00000261383:p.Asn2102Lys					DNAH3_ENST00000415178.1_3'UTR	p.N2102K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	43	6305	-			2102			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6306T>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407964	0.62399	.	.	ENSG00000158486	ENST00000261383	T	0.34859	1.34	5.82	-1.3	0.09259	ATPase, AAA+ type, core (1);	0.057545	0.64402	D	0.000002	T	0.65790	0.2725	H	0.95884	3.735	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.73538	-0.3951	10	0.72032	D	0.01	.	11.705	0.51592	0.4179:0.0:0.5821:0.0	.	2102	Q8TD57	DYH3_HUMAN	K	2102	ENSP00000261383:N2102K	ENSP00000261383:N2102K	N	-	3	2	DNAH3	20919162	1.000000	0.71417	0.997000	0.53966	0.456000	0.32438	1.970000	0.40520	-0.164000	0.10927	-0.376000	0.06991	AAT		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		27	51	0	0	0	1	0	27	51				
SCML2	10389	broad.mit.edu	37	X	18260638	18260638	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18260638G>T	ENST00000251900.4	-	14	2054	c.1895C>A	c.(1894-1896)tCt>tAt	p.S632Y	SCML2_ENST00000398048.3_Intron|SCML2_ENST00000491988.1_5'Flank	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	632	SAM.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTCATCCACAGACCAGGTTGA	0.458																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1894-1896)tCt>tAt		sex comb on midleg-like 2 (Drosophila)							111.0	92.0	98.0					X																	18260638		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18260638G>T	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1895C>A	X.37:g.18260638G>T	ENSP00000251900:p.Ser632Tyr					SCML2_ENST00000398048.3_Intron	p.S632Y	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN			14	2054	-	Hepatocellular(33;0.183)		632			SAM.		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.1895C>A	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044545	0.75732	.	.	ENSG00000102098	ENST00000251900	T	0.56103	0.48	5.08	5.08	0.68730	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.227424	0.38959	N	0.001504	T	0.81138	0.4760	H	0.95539	3.685	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	D	0.87499	0.2432	10	0.87932	D	0	.	18.057	0.89366	0.0:0.0:1.0:0.0	.	632	Q9UQR0	SCML2_HUMAN	Y	632	ENSP00000251900:S632Y	ENSP00000251900:S632Y	S	-	2	0	SCML2	18170559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.149000	0.58091	2.288000	0.76882	0.591000	0.81541	TCT		0.458	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		13	84	1	0	1.5842e-08	1	1.87418e-08	13	84				
CCNB2	9133	broad.mit.edu	37	15	59399854	59399854	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:59399854A>C	ENST00000288207.2	+	3	443	c.252A>C	c.(250-252)gaA>gaC	p.E84D	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	84					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TACAGATGGAAAAGTTGGCTC	0.403																																						ENST00000288207.2																			0				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(250-252)gaA>gaC		cyclin B2							72.0	71.0	71.0					15																	59399854		2191	4291	6482	SO:0001583	missense	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59399854A>C	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.252A>C	15.37:g.59399854A>C	ENSP00000288207:p.Glu84Asp					CCNB2_ENST00000559622.1_Intron	p.E84D	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN			3	443	+			84					B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	c.252A>C	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	A	9.919	1.211631	0.22289	.	.	ENSG00000157456	ENST00000288207	T	0.15718	2.4	4.91	1.29	0.21616	.	0.584708	0.17844	N	0.160092	T	0.10165	0.0249	L	0.38531	1.155	0.47037	D	0.999297	B	0.02656	0.0	B	0.04013	0.001	T	0.22487	-1.0215	10	0.20519	T	0.43	.	3.25	0.06811	0.5125:0.0:0.3112:0.1763	.	84	O95067	CCNB2_HUMAN	D	84	ENSP00000288207:E84D	ENSP00000288207:E84D	E	+	3	2	CCNB2	57187146	0.955000	0.32602	0.438000	0.26821	0.661000	0.39034	1.496000	0.35638	0.032000	0.15435	0.533000	0.62120	GAA		0.403	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		16	39	0	0	0	1	0	16	39				
STXBP5	134957	broad.mit.edu	37	6	147635409	147635409	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:147635409A>G	ENST00000321680.6	+	13	1303	c.1303A>G	c.(1303-1305)Atc>Gtc	p.I435V	STXBP5_ENST00000367480.3_Missense_Mutation_p.I435V|STXBP5_ENST00000179882.6_Missense_Mutation_p.I106V|STXBP5_ENST00000367481.3_Missense_Mutation_p.I435V	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	435					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAATGGCCCATCAACGGAGG	0.388																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(1303-1305)Atc>Gtc		syntaxin binding protein 5 (tomosyn)							97.0	106.0	103.0					6																	147635409		2202	4300	6502	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147635409A>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1303A>G	6.37:g.147635409A>G	ENSP00000321826:p.Ile435Val					STXBP5_ENST00000367480.3_Missense_Mutation_p.I435V|STXBP5_ENST00000321680.6_Missense_Mutation_p.I435V|STXBP5_ENST00000179882.6_Missense_Mutation_p.I106V	p.I435V	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	13	1411	+		Ovarian(120;0.0164)	435					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1303A>G	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824742	0.32237	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.67698	1.53;1.53;-0.28;1.53	6.14	6.14	0.99180	WD40 repeat-like-containing domain (2);	0.151595	0.64402	D	0.000011	T	0.44623	0.1302	L	0.41906	1.305	0.50467	D	0.999871	B;B;B	0.12013	0.005;0.001;0.0	B;B;B	0.14578	0.011;0.008;0.004	T	0.41448	-0.9508	10	0.21540	T	0.41	.	16.806	0.85666	1.0:0.0:0.0:0.0	.	435;435;106	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	V	435;435;435;106	ENSP00000356451:I435V;ENSP00000321826:I435V;ENSP00000356450:I435V;ENSP00000179882:I106V	ENSP00000179882:I106V	I	+	1	0	STXBP5	147677102	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.721000	0.54941	2.367000	0.80283	0.529000	0.55759	ATC		0.388	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			33	71	0	0	0	1	0	33	71				
APC	324	broad.mit.edu	37	5	112151216	112151216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112151216G>T	ENST00000457016.1	+	9	1239	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	APC_ENST00000257430.4_Nonsense_Mutation_p.E287*|APC_ENST00000508376.2_Nonsense_Mutation_p.E287*			P25054	APC_HUMAN	adenomatous polyposis coli	287	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AATGGACCATGAAACAGCCAG	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM040672	APC	M		c.(859-861)Gaa>Taa		adenomatous polyposis coli							122.0	109.0	114.0					5																	112151216		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112151216G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.859G>T	5.37:g.112151216G>T	ENSP00000413133:p.Glu287*	TSP Lung(16;0.13)				APC_ENST00000508376.2_Nonsense_Mutation_p.E287*|APC_ENST00000257430.4_Nonsense_Mutation_p.E287*	p.E287*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	9	1239	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	287			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.859G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	41	8.649263	0.98899	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.11	5.11	0.69529	.	0.227303	0.45126	D	0.000395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-21.8589	18.9031	0.92451	0.0:0.0:1.0:0.0	.	.	.	.	X	287;269;287;287;287	.	ENSP00000257430:E287X	E	+	1	0	APC	112179115	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	9.560000	0.98139	2.520000	0.84964	0.650000	0.86243	GAA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		21	36	1	0	7.41877e-09	1	8.8016e-09	21	36				
PDZRN4	29951	broad.mit.edu	37	12	41967015	41967015	+	Nonsense_Mutation	SNP	G	G	T	rs369306795		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:41967015G>T	ENST00000402685.2	+	10	2442	c.2434G>T	c.(2434-2436)Gaa>Taa	p.E812*	PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E554*|PDZRN4_ENST00000298919.7_Nonsense_Mutation_p.E552*	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	812							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)				GAAGGTTTTAGAAGGCAGCAA	0.502																																						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.(1654-1656)Gaa>Taa		PDZ domain containing ring finger 4							160.0	162.0	161.0					12																	41967015		2203	4300	6503	SO:0001587	stop_gained	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967015G>T	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.2434G>T	12.37:g.41967015G>T	ENSP00000384197:p.Glu812*					PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.E812*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E554*	p.E552*			Q6ZMN7	PZRN4_HUMAN			10	2042	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	812					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Nonsense_Mutation	SNP	ENST00000402685.2	37	c.1654G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293367	0.80914	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	.	.	.	5.34	3.48	0.39840	.	4.440630	0.00357	N	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-12.4923	9.8709	0.41172	0.0705:0.2637:0.6658:0.0	.	.	.	.	X	812;554;552	.	ENSP00000298919:E552X	E	+	1	0	PDZRN4	40253282	1.000000	0.71417	0.002000	0.10522	0.016000	0.09150	4.149000	0.58091	0.882000	0.36016	0.650000	0.86243	GAA		0.502	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		26	213	1	0	9.39395e-14	1	1.21013e-13	26	213				
CATSPERB	79820	broad.mit.edu	37	14	92139243	92139243	+	Missense_Mutation	SNP	G	G	A	rs150597625		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92139243G>A	ENST00000256343.3	-	13	1252	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	366					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCAGTACCACGCTCTTGGTCA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15774	0.0		0.0	False		,,,				2504	0.0					ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(1096-1098)Cgt>Tgt		catsper channel auxiliary subunit beta							113.0	121.0	118.0					14																	92139243		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92139243G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1096C>T	14.37:g.92139243G>A	ENSP00000256343:p.Arg366Cys						p.R366C	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			13	1252	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	366					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1096C>T	CCDS32142.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.877	0.531179	0.13127	.	.	ENSG00000133962	ENST00000256343	T	0.47177	0.85	5.43	2.19	0.27852	.	1.514770	0.04452	N	0.372747	T	0.34106	0.0886	N	0.08118	0	0.09310	N	1	D	0.54772	0.968	B	0.43783	0.431	T	0.44862	-0.9300	10	0.72032	D	0.01	-0.3978	10.8363	0.46690	0.0:0.0:0.537:0.463	.	366	Q9H7T0	CTSRB_HUMAN	C	366	ENSP00000256343:R366C	ENSP00000256343:R366C	R	-	1	0	CATSPERB	91208996	0.011000	0.17503	0.706000	0.30403	0.011000	0.07611	0.371000	0.20450	1.218000	0.43458	0.563000	0.77884	CGT		0.363	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		31	67	0	0	0	1	0	31	67				
NCOA7	135112	broad.mit.edu	37	6	126242114	126242114	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:126242114G>A	ENST00000368357.3	+	13	2622	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	NCOA7_ENST00000392477.2_Missense_Mutation_p.R757H|NCOA7_ENST00000229634.9_Missense_Mutation_p.R642H	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	757					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAGGCAAAGCGCAGGAAGAGC	0.453																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(2269-2271)cGc>cAc		nuclear receptor coactivator 7							81.0	72.0	75.0					6																	126242114		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126242114G>A	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2270G>A	6.37:g.126242114G>A	ENSP00000357341:p.Arg757His					NCOA7_ENST00000229634.9_Missense_Mutation_p.R642H|NCOA7_ENST00000392477.2_Missense_Mutation_p.R757H	p.R757H	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	13	2622	+			757					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.2270G>A	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458498	0.96240	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000433571;ENST00000368353	T;T;T;T	0.34859	2.43;2.43;2.45;1.34	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.945;0.999;0.998	T	0.43228	-0.9404	10	0.45353	T	0.12	-5.5609	20.5752	0.99366	0.0:0.0:1.0:0.0	.	746;51;746;757	B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08	.;.;.;NCOA7_HUMAN	H	757;757;642;67;67	ENSP00000357341:R757H;ENSP00000376269:R757H;ENSP00000229634:R642H;ENSP00000411002:R67H	ENSP00000229634:R642H	R	+	2	0	NCOA7	126283807	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.330000	0.96422	2.868000	0.98415	0.557000	0.71058	CGC		0.453	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		28	48	0	0	0	1	0	28	48				
TRBV19	28568	broad.mit.edu	37	7	142326512	142326512	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142326512C>A	ENST00000390393.3	+	0	150									T cell receptor beta variable 19																		CGAGCCAAGTCTCTTTTCTCA	0.522																																						ENST00000390393.3																			0																				39.0	39.0	39.0					7																	142326512		692	1591	2283			0							g.chr7:142326512C>A	U48260		7q34	2012-02-07			ENSG00000211746	ENSG00000211746		"""T cell receptors / TRB locus"""	12194	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV17S1A1T, TCRBV19S1			OTTHUMG00000158877		7.37:g.142326512C>A														0	150	+									RNA	SNP	ENST00000390393.3	37																																																																																						0.522	TRBV19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352485.2	NG_001333		6	22	1	0	0.0215528	1	0.0219788	6	22				
LRP1B	53353	broad.mit.edu	37	2	141298598	141298598	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141298598C>A	ENST00000389484.3	-	45	8428	c.7457G>T	c.(7456-7458)aGa>aTa	p.R2486I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2486	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAATTCACTCTCCCATTGGG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7456-7458)aGa>aTa		low density lipoprotein receptor-related protein 1B							145.0	135.0	138.0					2																	141298598		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141298598C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7457G>T	2.37:g.141298598C>A	ENSP00000374135:p.Arg2486Ile	TSP Lung(27;0.18)					p.R2486I	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	45	8428	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2486					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7457G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124838	0.56613	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90069	-2.61	5.72	3.93	0.45458	Epidermal growth factor-like (1);	0.122377	0.53938	D	0.000060	D	0.85026	0.5603	L	0.52364	1.645	0.50039	D	0.999844	P	0.46706	0.883	B	0.42555	0.391	T	0.80405	-0.1396	10	0.20046	T	0.44	.	12.2494	0.54589	0.0:0.8623:0.0:0.1377	.	2486	Q9NZR2	LRP1B_HUMAN	I	2486;2424	ENSP00000374135:R2486I	ENSP00000374135:R2486I	R	-	2	0	LRP1B	141015068	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.095000	0.50235	0.771000	0.33359	-0.140000	0.14226	AGA		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		28	56	1	0	3.65163e-15	1	4.79858e-15	28	56				
OR4A47	403253	broad.mit.edu	37	11	48510546	48510546	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:48510546G>T	ENST00000446524.1	+	1	278	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATCATTTATAGATATCATTTA	0.423																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(202-204)Gat>Tat		olfactory receptor, family 4, subfamily A, member 47							62.0	62.0	62.0					11																	48510546		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510546G>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.202G>T	11.37:g.48510546G>T	ENSP00000412752:p.Asp68Tyr						p.D68Y	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	278	+			68						Missense_Mutation	SNP	ENST00000446524.1	37	c.202G>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	9.660	1.143762	0.21205	.	.	ENSG00000237388	ENST00000446524	T	0.01185	5.21	4.66	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.11024	0.0269	H	0.97051	3.93	0.33224	D	0.555107	D	0.89917	1.0	D	0.91635	0.999	T	0.24693	-1.0153	10	0.87932	D	0	.	10.7879	0.46415	0.0952:0.0:0.9048:0.0	.	68	Q6IF82	O4A47_HUMAN	Y	68	ENSP00000412752:D68Y	ENSP00000412752:D68Y	D	+	1	0	OR4A47	48467122	0.995000	0.38212	0.680000	0.29994	0.001000	0.01503	2.849000	0.48286	0.947000	0.37659	-0.424000	0.05967	GAT		0.423	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		20	30	1	0	8.34094e-07	1	9.42356e-07	20	30				
ZNF860	344787	broad.mit.edu	37	3	32031204	32031204	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:32031204C>A	ENST00000360311.4	+	2	1182	c.633C>A	c.(631-633)ttC>ttA	p.F211L		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	211					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)|lung(4)|ovary(1)	8						AAAATAATTTCTTCCATTCAT	0.343																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(631-633)ttC>ttA		zinc finger protein 860							42.0	32.0	35.0					3																	32031204		692	1588	2280	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031204C>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.633C>A	3.37:g.32031204C>A	ENSP00000373274:p.Phe211Leu						p.F211L	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1182	+			211					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.633C>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773153	0.16051	.	.	ENSG00000197385	ENST00000360311	T	0.38722	1.12	0.345	-0.691	0.11305	.	.	.	.	.	T	0.42063	0.1186	M	0.87758	2.905	0.09310	N	1	B	0.23185	0.081	B	0.20384	0.029	T	0.41502	-0.9505	8	.	.	.	.	3.7672	0.08627	0.0:0.3509:0.0:0.6491	.	211	A6NHJ4	ZN860_HUMAN	L	211	ENSP00000373274:F211L	.	F	+	3	2	ZNF860	32006208	0.011000	0.17503	0.002000	0.10522	0.002000	0.02628	-0.492000	0.06467	-0.519000	0.06444	-0.515000	0.04445	TTC		0.343	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			29	51	1	0	7.41945e-09	1	8.8016e-09	29	51				
MEGF9	1955	broad.mit.edu	37	9	123367548	123367548	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123367548A>C	ENST00000373930.3	-	6	1840	c.1729T>G	c.(1729-1731)Ttg>Gtg	p.L577V	MEGF9_ENST00000426959.1_Missense_Mutation_p.L614V	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	577						integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCTTCCAACAATCCCGAAACA	0.483																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(1729-1731)Ttg>Gtg		multiple EGF-like-domains 9							134.0	133.0	133.0					9																	123367548		1999	4173	6172	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123367548A>C	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1729T>G	9.37:g.123367548A>C	ENSP00000363040:p.Leu577Val					MEGF9_ENST00000426959.1_Missense_Mutation_p.L614V	p.L577V	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			6	1840	-			577					B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.1729T>G	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703638	0.48412	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.37752	1.18;1.45	5.41	0.343	0.16001	.	0.000000	0.64402	D	0.000001	T	0.39886	0.1095	N	0.24115	0.695	0.45867	D	0.998726	D	0.76494	0.999	D	0.75020	0.985	T	0.15925	-1.0420	10	0.72032	D	0.01	-4.9309	9.6238	0.39739	0.6118:0.0:0.3882:0.0	.	614	C9J1K8	.	V	577;614	ENSP00000363040:L577V;ENSP00000392666:L614V	ENSP00000363040:L577V	L	-	1	2	MEGF9	122407369	0.768000	0.28519	0.996000	0.52242	0.989000	0.77384	0.104000	0.15313	-0.176000	0.10707	0.533000	0.62120	TTG		0.483	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		44	75	0	0	0	1	0	44	75				
MGRN1	23295	broad.mit.edu	37	16	4707338	4707338	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4707338G>T	ENST00000399577.5	+	5	628	c.535G>T	c.(535-537)Gac>Tac	p.D179Y	MGRN1_ENST00000415496.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000588994.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000262370.7_Missense_Mutation_p.D179Y|MGRN1_ENST00000586183.1_Missense_Mutation_p.D179Y	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	179					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTTCAAGATTGACTTCTCGGA	0.602																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(535-537)Gac>Tac		mahogunin ring finger 1, E3 ubiquitin protein ligase							83.0	87.0	85.0					16																	4707338		2029	4175	6204	SO:0001583	missense	0				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4707338G>T	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.535G>T	16.37:g.4707338G>T	ENSP00000382487:p.Asp179Tyr					MGRN1_ENST00000415496.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000262370.7_Missense_Mutation_p.D179Y|MGRN1_ENST00000586183.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000588994.1_Missense_Mutation_p.D179Y	p.D179Y	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			5	628	+			179					A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	c.535G>T	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670155	0.67814	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.22	5.22	0.72569	.	0.091990	0.64402	D	0.000001	T	0.59376	0.2189	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;1.0;0.999	D;D;P;D;D;D	0.79108	0.978;0.992;0.873;0.968;0.987;0.971	T	0.60469	-0.7257	10	0.52906	T	0.07	-41.5643	17.3562	0.87336	0.0:0.0:1.0:0.0	.	179;179;179;179;179;179	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	Y	179	ENSP00000262370:D179Y;ENSP00000382487:D179Y;ENSP00000393311:D179Y;ENSP00000443810:D179Y	ENSP00000262370:D179Y	D	+	1	0	MGRN1	4647339	1.000000	0.71417	0.989000	0.46669	0.383000	0.30230	6.653000	0.74382	2.434000	0.82447	0.561000	0.74099	GAC		0.602	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			29	40	1	0	2.12542e-12	1	2.68024e-12	29	40				
FOXP1	27086	broad.mit.edu	37	3	71008510	71008510	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:71008510T>C	ENST00000318789.4	-	21	2447	c.1922A>G	c.(1921-1923)gAt>gGt	p.D641G	FOXP1_ENST00000475937.1_Missense_Mutation_p.D641G|FOXP1_ENST00000491238.1_Missense_Mutation_p.D643G|FOXP1_ENST00000468577.1_Missense_Mutation_p.D577G|FOXP1_ENST00000484350.1_Missense_Mutation_p.D565G|FOXP1_ENST00000498215.1_Missense_Mutation_p.D641G|FOXP1_ENST00000493089.1_Missense_Mutation_p.D640G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	641					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	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)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTCCTCTGGATCGAGGGGCTC	0.498			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1921-1923)gAt>gGt		forkhead box P1							145.0	130.0	135.0					3																	71008510		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71008510T>C	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1922A>G	3.37:g.71008510T>C	ENSP00000318902:p.Asp641Gly					FOXP1_ENST00000493089.1_Missense_Mutation_p.D640G|FOXP1_ENST00000475937.1_Missense_Mutation_p.D641G|FOXP1_ENST00000498215.1_Missense_Mutation_p.D641G|FOXP1_ENST00000491238.1_Missense_Mutation_p.D643G|FOXP1_ENST00000484350.1_Missense_Mutation_p.D565G|FOXP1_ENST00000468577.1_Missense_Mutation_p.D577G	p.D641G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	21	2447	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	641					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1922A>G	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.104691	0.56291	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.89810	-2.46;-2.46;-2.55;-2.57;-2.46;-2.46;-2.45;-2.31	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.89560	0.6750	L	0.44542	1.39	0.80722	D	1	D;P;P	0.56968	0.978;0.602;0.602	P;B;B	0.53861	0.736;0.416;0.416	D	0.87132	0.2197	10	0.21540	T	0.41	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	640;565;641	G5E9V8;Q8NAN6;Q9H334	.;.;FOXP1_HUMAN	G	641;453;641;537;643;640;641;565;577	ENSP00000318902:D641G;ENSP00000419393:D641G;ENSP00000418225:D537G;ENSP00000420736:D643G;ENSP00000418524:D640G;ENSP00000418102:D641G;ENSP00000417857:D565G;ENSP00000418883:D577G	ENSP00000318902:D641G	D	-	2	0	FOXP1	71091200	1.000000	0.71417	0.941000	0.38009	0.981000	0.71138	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	GAT		0.498	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		21	45	0	0	0	1	0	21	45				
ERCC6	2074	broad.mit.edu	37	10	50732662	50732662	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50732662C>T	ENST00000355832.5	-	5	892	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	PGBD3_ENST00000603152.1_Missense_Mutation_p.E272K|PGBD3_ENST00000374127.3_5'Flank|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E272K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E272K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	272					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAATACTTTTCGAAGCCTGAT	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(814-816)Gaa>Aaa	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							165.0	161.0	163.0					10																	50732662		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50732662C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.814G>A	10.37:g.50732662C>T	ENSP00000348089:p.Glu272Lys					ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E272K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E272K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E272K	p.E272K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			5	892	-			272					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.814G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575942	0.96553	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.86432	-2.12;2.61;2.61	6.03	6.03	0.97812	.	.	.	.	.	D	0.91794	0.7404	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58820	0.833;0.846	D	0.89682	0.3891	9	0.32370	T	0.25	-37.346	18.7472	0.91797	0.0:1.0:0.0:0.0	.	272;272	E7EV46;Q03468	.;ERCC6_HUMAN	K	272	ENSP00000348089:E272K;ENSP00000423550:E272K;ENSP00000387966:E272K	ENSP00000348089:E272K	E	-	1	0	ERCC6;RP11-123B3.6	50402668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.461000	0.80834	2.854000	0.98071	0.655000	0.94253	GAA		0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		47	85	0	0	0	1	0	47	85				
IGBP1	3476	broad.mit.edu	37	X	69366640	69366640	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69366640G>A	ENST00000342206.6	+	3	1139	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	IGBP1-AS2_ENST00000403371.2_RNA|IGBP1_ENST00000356413.4_Missense_Mutation_p.E214K			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	214					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CATTGACCAGGAAATAAAGAT	0.408																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	ENST00000342206.6																			0				kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						c.(640-642)Gaa>Aaa		immunoglobulin (CD79A) binding protein 1							58.0	49.0	52.0					X																	69366640		2203	4299	6502	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69366640G>A	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.640G>A	X.37:g.69366640G>A	ENSP00000363661:p.Glu214Lys					IGBP1_ENST00000356413.4_Missense_Mutation_p.E214K	p.E214K			P78318	IGBP1_HUMAN			3	1139	+			214					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.640G>A	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.836929	0.91117	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.61274	0.12;0.12	5.14	5.14	0.70334	.	0.047289	0.85682	D	0.000000	T	0.78246	0.4253	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81922	-0.0711	10	0.87932	D	0	.	15.0278	0.71682	0.0:0.0:1.0:0.0	.	214	P78318	IGBP1_HUMAN	K	214	ENSP00000363661:E214K;ENSP00000348784:E214K	ENSP00000363661:E214K	E	+	1	0	IGBP1	69283365	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.770000	0.74990	2.523000	0.85059	0.594000	0.82650	GAA		0.408	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			14	35	0	0	0	1	0	14	35				
ADAM23	8745	broad.mit.edu	37	2	207414845	207414845	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207414845G>T	ENST00000264377.3	+	9	1222	c.894G>T	c.(892-894)atG>atT	p.M298I	ADAM23_ENST00000374416.1_Missense_Mutation_p.M298I|ADAM23_ENST00000374415.3_Missense_Mutation_p.M298I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	298					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAGAAATGAAATATTTGG	0.303																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(892-894)atG>atT		ADAM metallopeptidase domain 23							80.0	81.0	80.0					2																	207414845		2203	4296	6499	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207414845G>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.894G>T	2.37:g.207414845G>T	ENSP00000264377:p.Met298Ile					ADAM23_ENST00000374415.3_Missense_Mutation_p.M298I|ADAM23_ENST00000374416.1_Missense_Mutation_p.M298I	p.M298I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	9	1222	+			298					A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.894G>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617647	0.66787	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09350	2.99;2.99;2.99	5.86	5.86	0.93980	Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.14356	0.0347	L	0.32530	0.975	0.80722	D	1	B	0.33841	0.428	B	0.38616	0.277	T	0.02698	-1.1122	10	0.46703	T	0.11	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	298	O75077	ADA23_HUMAN	I	298;298;192;298	ENSP00000264377:M298I;ENSP00000363537:M298I;ENSP00000363536:M298I	ENSP00000264377:M298I	M	+	3	0	ADAM23	207123090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.846000	0.75399	2.937000	0.99478	0.650000	0.86243	ATG		0.303	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		6	16	1	0	0.0215528	1	0.0219788	6	16				
STYX	6815	broad.mit.edu	37	14	53224469	53224469	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:53224469C>A	ENST00000354586.4	+	7	642	c.349C>A	c.(349-351)Ctt>Att	p.L117I	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Missense_Mutation_p.L117I	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	117	Tyrosine-protein phosphatase.				MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L117I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AGGAAAAGTTCTTGTGCATGG	0.318																																						ENST00000354586.4																			1	Substitution - Missense(1)	p.L117I(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(349-351)Ctt>Att		serine/threonine/tyrosine interacting protein							69.0	74.0	72.0					14																	53224469		2203	4295	6498	SO:0001583	missense	6815				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	g.chr14:53224469C>A		CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.349C>A	14.37:g.53224469C>A	ENSP00000346599:p.Leu117Ile					STYX_ENST00000442123.2_Missense_Mutation_p.L117I|STYX_ENST00000556861.1_Intron	p.L117I	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN			7	642	+	Breast(41;0.176)		117			Tyrosine-protein phosphatase.		B9EJG0|Q99850	Missense_Mutation	SNP	ENST00000354586.4	37	c.349C>A	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963730	0.92791	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	T;T	0.69040	-0.37;-0.37	5.58	5.58	0.84498	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89824	0.3991	10	0.87932	D	0	.	19.9414	0.97163	0.0:1.0:0.0:0.0	.	117	Q8WUJ0	STYX_HUMAN	I	117	ENSP00000403214:L117I;ENSP00000346599:L117I	ENSP00000346599:L117I	L	+	1	0	STYX	52294219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.628000	0.74262	2.779000	0.95612	0.650000	0.86243	CTT		0.318	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251		18	18	1	0	1.45105e-14	1	1.8931e-14	18	18				
IGKV3-11	28914	broad.mit.edu	37	2	89327160	89327160	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:89327160G>T	ENST00000483158.1	-	0	68									immunoglobulin kappa variable 3-11																		AGGAGGAAGAGAAGCTGAGCT	0.527																																						ENST00000483158.1																			0																				102.0	98.0	99.0					2																	89327160		1868	4102	5970			0							g.chr2:89327160G>T	X01668		2p11.2	2012-02-08			ENSG00000241351	ENSG00000241351		"""Immunoglobulins / IGK locus"""	5815	other	immunoglobulin gene							Standard	NG_000834		Approved		uc021vkj.1		OTTHUMG00000151633		2.37:g.89327160G>T														0	68	-									RNA	SNP	ENST00000483158.1	37																																																																																						0.527	IGKV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323357.1	NG_000834		44	76	1	0	1.00953e-15	1	1.3341e-15	44	76				
BIN2	51411	broad.mit.edu	37	12	51695879	51695879	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51695879T>G	ENST00000267012.4	-	5	394	c.333A>C	c.(331-333)gaA>gaC	p.E111D	BIN2_ENST00000604560.1_Missense_Mutation_p.E84D|BIN2_ENST00000544402.1_Missense_Mutation_p.E85D|BIN2_ENST00000452142.2_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	111	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCGTAGTCTTCCCAAAGGA	0.463																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(331-333)gaA>gaC		bridging integrator 2							111.0	93.0	99.0					12																	51695879		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51695879T>G	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.333A>C	12.37:g.51695879T>G	ENSP00000267012:p.Glu111Asp					BIN2_ENST00000452142.2_Intron|BIN2_ENST00000544402.1_Missense_Mutation_p.E85D|BIN2_ENST00000604560.1_Missense_Mutation_p.E84D	p.E111D	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			5	394	-			111			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.333A>C	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.936635	0.34189	.	.	ENSG00000110934	ENST00000267012;ENST00000544402	T;T	0.60797	0.16;0.16	5.48	1.6	0.23607	BAR (3);	0.125814	0.53938	D	0.000060	T	0.27559	0.0677	N	0.05230	-0.09	0.27967	N	0.936562	B;B	0.29671	0.254;0.128	B;B	0.25987	0.039;0.065	T	0.09122	-1.0689	10	0.30854	T	0.27	-9.2457	3.9991	0.09572	0.2403:0.1536:0.0:0.6061	.	85;111	F5H0W4;Q9UBW5	.;BIN2_HUMAN	D	111;85	ENSP00000267012:E111D;ENSP00000445874:E85D	ENSP00000267012:E111D	E	-	3	2	BIN2	49982146	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	0.785000	0.26830	0.469000	0.27268	-0.400000	0.06385	GAA		0.463	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			4	36	0	0	0	1	0	4	36				
ARHGAP9	64333	broad.mit.edu	37	12	57867888	57867888	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57867888G>T	ENST00000356411.2	-	16	2050	c.1912C>A	c.(1912-1914)Ctc>Atc	p.L638I	ARHGAP9_ENST00000393797.2_Missense_Mutation_p.L709I|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.L435I|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L698I|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L619I|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L619I			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	638	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCTCCCGGAGAAAAAGCTTC	0.562																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2125-2127)Ctc>Atc		Rho GTPase activating protein 9							36.0	39.0	38.0					12																	57867888		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57867888G>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1912C>A	12.37:g.57867888G>T	ENSP00000348782:p.Leu638Ile					ARHGAP9_ENST00000356411.2_Missense_Mutation_p.L638I|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.L435I|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L698I|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L619I|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L619I	p.L709I			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		19	2317	-			638			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2125C>A		.	.	.	.	.	.	.	.	.	.	G	20.3	3.964877	0.74131	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T;T	0.62788	-0.0;-0.0;1.85;-0.0;-0.0;1.85	4.97	3.13	0.36017	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.119600	0.56097	D	0.000028	T	0.66906	0.2837	L	0.52759	1.655	0.27571	N	0.949898	P;D;P;D;P	0.61080	0.92;0.989;0.617;0.977;0.76	P;P;B;P;P	0.62298	0.491;0.869;0.242;0.9;0.61	T	0.59182	-0.7502	10	0.87932	D	0	.	6.3679	0.21465	0.372:0.0:0.628:0.0	.	698;638;619;619;435	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	I	619;638;619;709;668;435;108	ENSP00000377380:L619I;ENSP00000348782:L638I;ENSP00000394307:L619I;ENSP00000377386:L709I;ENSP00000397950:L435I;ENSP00000448423:L108I	ENSP00000344852:L668I	L	-	1	0	ARHGAP9	56154155	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.885000	0.48570	0.805000	0.34159	-0.136000	0.14681	CTC		0.562	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		15	22	1	0	3.45872e-05	1	3.78815e-05	15	22				
ATP1A3	478	broad.mit.edu	37	19	42485761	42485761	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42485761A>G	ENST00000302102.5	-	11	1480	c.1330T>C	c.(1330-1332)Tct>Cct	p.S444P	ATP1A3_ENST00000602133.1_Missense_Mutation_p.S414P|ATP1A3_ENST00000545399.1_Missense_Mutation_p.S457P|ATP1A3_ENST00000543770.1_Missense_Mutation_p.S455P	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	444					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCAGGGCAGACTCAGACGCA	0.572																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(1369-1371)Tct>Cct		ATPase, Na+/K+ transporting, alpha 3 polypeptide							91.0	72.0	79.0					19																	42485761		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42485761A>G		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1330T>C	19.37:g.42485761A>G	ENSP00000302397:p.Ser444Pro					ATP1A3_ENST00000543770.1_Missense_Mutation_p.S455P|ATP1A3_ENST00000302102.5_Missense_Mutation_p.S444P|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S414P	p.S457P	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			11	1522	-			444					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.1369T>C	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182068	0.78677	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	3.87	3.87	0.44632	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.97501	0.9182	M	0.86953	2.85	0.80722	D	1	D;P;D;D	0.76494	0.995;0.95;0.999;0.96	D;D;D;D	0.76071	0.95;0.956;0.987;0.974	D	0.97722	1.0197	10	0.72032	D	0.01	.	11.2821	0.49201	1.0:0.0:0.0:0.0	.	457;455;444;444	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	P	444;444;457;414;188;455	ENSP00000302397:S444P;ENSP00000411503:S444P;ENSP00000444688:S457P;ENSP00000437577:S455P	ENSP00000302397:S444P	S	-	1	0	ATP1A3	47177601	1.000000	0.71417	0.982000	0.44146	0.883000	0.51084	5.898000	0.69838	1.979000	0.57680	0.454000	0.30748	TCT		0.572	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		18	32	0	0	0	1	0	18	32				
CCDC15	80071	broad.mit.edu	37	11	124910539	124910539	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124910539A>G	ENST00000344762.5	+	16	3047	c.2788A>G	c.(2788-2790)Aat>Gat	p.N930D	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000529051.1_Missense_Mutation_p.N941D	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	930						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CCCTGGGGGTAATTCAACTCT	0.368																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(2821-2823)Aat>Gat		coiled-coil domain containing 15							57.0	56.0	56.0					11																	124910539		1837	4084	5921	SO:0001583	missense	80071					centrosome		g.chr11:124910539A>G	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2788A>G	11.37:g.124910539A>G	ENSP00000341684:p.Asn930Asp					CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000344762.5_Missense_Mutation_p.N930D	p.N941D			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	16	3080	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	930					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.2821A>G	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	8.061	0.768028	0.15983	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.35048	1.33;1.33	5.13	2.67	0.31697	.	.	.	.	.	T	0.34542	0.0901	L	0.50333	1.59	0.09310	N	1	P	0.50272	0.933	P	0.47346	0.544	T	0.10941	-1.0608	9	0.31617	T	0.26	-3.5557	6.2753	0.20977	0.6079:0.3107:0.0814:0.0	.	930	Q0P6D6	CCD15_HUMAN	D	941;930	ENSP00000435403:N941D;ENSP00000341684:N930D	ENSP00000341684:N930D	N	+	1	0	CCDC15	124415749	0.140000	0.22579	0.202000	0.23494	0.122000	0.20287	1.055000	0.30467	0.361000	0.24292	0.533000	0.62120	AAT		0.368	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		7	11	0	0	0	1	0	7	11				
EMILIN2	84034	broad.mit.edu	37	18	2890578	2890578	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:2890578C>A	ENST00000254528.3	+	4	612	c.453C>A	c.(451-453)ttC>ttA	p.F151L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	151					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGCCAATTCTCAGAGCCCA	0.443																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(451-453)ttC>ttA		elastin microfibril interfacer 2							46.0	49.0	48.0					18																	2890578		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2890578C>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.453C>A	18.37:g.2890578C>A	ENSP00000254528:p.Phe151Leu						p.F151L	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	612	+			151					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.453C>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	0.790	-0.759042	0.03019	.	.	ENSG00000132205	ENST00000254528	T	0.33865	1.39	5.44	3.63	0.41609	.	0.832392	0.10543	N	0.662481	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24693	-1.0153	10	0.25106	T	0.35	-12.1758	9.0728	0.36502	0.0:0.8416:0.0:0.1584	.	151	Q9BXX0	EMIL2_HUMAN	L	151	ENSP00000254528:F151L	ENSP00000254528:F151L	F	+	3	2	EMILIN2	2880578	0.001000	0.12720	0.041000	0.18516	0.373000	0.29922	0.146000	0.16180	0.645000	0.30675	0.557000	0.71058	TTC		0.443	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		21	54	1	0	1.2644e-06	1	1.4261e-06	21	54				
TMX3	54495	broad.mit.edu	37	18	66365258	66365258	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66365258G>A	ENST00000299608.2	-	7	719	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	TMX3_ENST00000443099.2_Missense_Mutation_p.R108W|TMX3_ENST00000562706.1_Missense_Mutation_p.R135W	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	135					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GGAAGTGGCCGAATTAGAGCC	0.318																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(403-405)Cgg>Tgg		thioredoxin-related transmembrane protein 3							79.0	72.0	74.0					18																	66365258		2203	4300	6503	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66365258G>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.403C>T	18.37:g.66365258G>A	ENSP00000299608:p.Arg135Trp					TMX3_ENST00000443099.2_Missense_Mutation_p.R108W|TMX3_ENST00000562706.1_Missense_Mutation_p.R135W	p.R135W	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			7	719	-			135					B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.403C>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914520	0.72983	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T	0.14266	2.83;2.52	5.33	5.33	0.75918	.	0.054279	0.64402	N	0.000001	T	0.29458	0.0734	L	0.38531	1.155	0.80722	D	1	D;P;D	0.89917	1.0;0.765;1.0	D;B;D	0.97110	1.0;0.134;0.999	T	0.00995	-1.1487	10	0.72032	D	0.01	.	16.8578	0.86010	0.0:0.0:1.0:0.0	.	108;135;135	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	W	135;135;108	ENSP00000299608:R135W;ENSP00000402605:R108W	ENSP00000299608:R135W	R	-	1	2	TMX3	64516238	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.237000	0.58681	2.652000	0.90054	0.655000	0.94253	CGG		0.318	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		12	21	0	0	0	1	0	12	21				
SLC25A13	10165	broad.mit.edu	37	7	95813703	95813703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:95813703G>A	ENST00000265631.5	-	11	1199	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	SLC25A13_ENST00000416240.2_Nonsense_Mutation_p.R356*|SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.R247*			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	355					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTCTGCATTCGAGTTTTTACA	0.373																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	GRCh37	CM090577	SLC25A13	M		c.(1066-1068)Cga>Tga		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						77.0	72.0	74.0					7																	95813703		2203	4300	6503	SO:0001587	stop_gained	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95813703G>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1063C>T	7.37:g.95813703G>A	ENSP00000265631:p.Arg355*					SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.R247*|SLC25A13_ENST00000265631.5_Nonsense_Mutation_p.R355*	p.R356*	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		11	1256	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		355					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Nonsense_Mutation	SNP	ENST00000265631.5	37	c.1066C>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	40	8.152834	0.98680	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7694	17.8857	0.88854	0.0:0.0:1.0:0.0	.	.	.	.	X	355;356;247	.	ENSP00000265631:R355X	R	-	1	2	SLC25A13	95651639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.526000	0.85167	0.655000	0.94253	CGA		0.373	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		19	25	0	0	0	1	0	19	25				
ZC3H18	124245	broad.mit.edu	37	16	88666313	88666313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:88666313C>T	ENST00000301011.5	+	6	1245	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R373*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	349						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R349*(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGAAGTTTTTCGAGATTGGAA	0.488																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			2	Substitution - Nonsense(2)	p.R349*(2)	large_intestine(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1045-1047)Cga>Tga		zinc finger CCCH-type containing 18							114.0	128.0	123.0					16																	88666313		2198	4300	6498	SO:0001587	stop_gained	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88666313C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1045C>T	16.37:g.88666313C>T	ENSP00000301011:p.Arg349*					ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R373*	p.R349*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	6	1245	+			349					Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	c.1045C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	39	7.301061	0.98196	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	.	.	.	5.16	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5262	14.7222	0.69314	0.1543:0.8457:0.0:0.0	.	.	.	.	X	349;373;373;232	.	ENSP00000289509:R373X	R	+	1	2	ZC3H18	87193814	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.781000	0.38644	2.390000	0.81377	0.561000	0.74099	CGA		0.488	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		44	76	0	0	0	1	0	44	76				
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203821496T>C	ENST00000545588.1	+	17	6229	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	801					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L801P(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388																																						ENST00000545588.1																			3	Substitution - Missense(3)	p.L801P(3)	lung(2)|endometrium(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2401-2403)cTg>cCg		zinc finger CCCH-type containing 11A							58.0	57.0	58.0					1																	203821496		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821496T>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2402T>C	1.37:g.203821496T>C	ENSP00000438527:p.Leu801Pro					ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P	p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6229	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		801					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2402T>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497945	0.44455	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	5.9	3.44	0.39384	.	0.000000	0.64402	D	0.000002	T	0.81029	0.4738	M	0.77103	2.36	0.80722	D	1	D	0.57257	0.979	P	0.58454	0.839	T	0.79992	-0.1569	10	0.46703	T	0.11	0.4071	8.3189	0.32117	0.1313:0.0:0.1373:0.7314	.	801	O75152	ZC11A_HUMAN	P	801;747;801;801;801;801	ENSP00000356183:L801P;ENSP00000356181:L801P;ENSP00000333253:L801P;ENSP00000438527:L801P;ENSP00000356179:L801P	ENSP00000333253:L801P	L	+	2	0	ZC3H11A	202088119	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.206000	0.72154	1.042000	0.40150	-0.321000	0.08615	CTG		0.388	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		5	36	0	0	0	1	0	5	36				
TEX11	56159	broad.mit.edu	37	X	69890345	69890345	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69890345G>A	ENST00000395889.2	-	17	1462	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	TEX11_ENST00000374320.2_Missense_Mutation_p.A111V|TEX11_ENST00000374333.2_Missense_Mutation_p.A421V|TEX11_ENST00000344304.3_Missense_Mutation_p.A436V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	436					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCATTGTAGGGCATCAGTGTA	0.378																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1306-1308)gCc>gTc		testis expressed 11							90.0	77.0	82.0					X																	69890345		2203	4300	6503	SO:0001583	missense	0						protein binding	g.chrX:69890345G>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1307C>T	X.37:g.69890345G>A	ENSP00000379226:p.Ala436Val					TEX11_ENST00000374333.2_Missense_Mutation_p.A421V|TEX11_ENST00000374320.2_Missense_Mutation_p.A111V|TEX11_ENST00000344304.3_Missense_Mutation_p.A436V	p.A436V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			17	1462	-	Renal(35;0.156)		436					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1307C>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617623	0.46736	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	4.03	4.03	0.46877	Tetratricopeptide-like helical (1);	0.073970	0.53938	D	0.000050	D	0.95408	0.8509	M	0.70275	2.135	0.36271	D	0.855157	D;D	0.76494	0.998;0.999	D;D	0.72338	0.961;0.977	D	0.96286	0.9210	9	.	.	.	-0.906	10.6084	0.45408	0.0:0.0:1.0:0.0	.	421;436	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	V	421;436;111;436	ENSP00000363453:A421V;ENSP00000379226:A436V;ENSP00000363440:A111V;ENSP00000340995:A436V	.	A	-	2	0	TEX11	69807070	1.000000	0.71417	0.674000	0.29902	0.108000	0.19459	6.498000	0.73679	1.865000	0.54081	0.422000	0.28245	GCC		0.378	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			13	33	0	0	0	1	0	13	33				
UGT1A9	54600	broad.mit.edu	37	2	234580906	234580906	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234580906T>G	ENST00000354728.4	+	1	408	c.326T>G	c.(325-327)tTa>tGa	p.L109*	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Nonsense_Mutation_p.L109*			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	109					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TATTCTCTATTAATGGGTTCA	0.338																																						ENST00000354728.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(325-327)tTa>tGa									83.0	85.0	85.0					2																	234580906		2203	4300	6503	SO:0001587	stop_gained	0							g.chr2:234580906T>G	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.326T>G	2.37:g.234580906T>G	ENSP00000346768:p.Leu109*					UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	p.L109*	NM_021027.2	NP_066307.1				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	408	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)						B8K285|P36509|Q9HAX0	Nonsense_Mutation	SNP	ENST00000354728.4	37	c.326T>G	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698725	0.68501	.	.	ENSG00000241119	ENST00000354728	.	.	.	3.41	0.655	0.17839	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.1358	0.01755	0.1494:0.1886:0.1537:0.5083	.	.	.	.	X	109	.	ENSP00000346768:L109X	L	+	2	0	UGT1A9	234245645	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.073000	0.11468	0.022000	0.15160	0.362000	0.22060	TTA		0.338	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		11	74	0	0	0	1	0	11	74				
NCF1	653361	broad.mit.edu	37	7	74197898	74197898	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:74197898G>T	ENST00000289473.4	+	7	675	c.605G>T	c.(604-606)cGa>cTa	p.R202L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	202	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	AAAGCAAAGCGAGGCTGGATC	0.637																																						ENST00000289473.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(604-606)cGa>cTa		neutrophil cytosolic factor 1							59.0	52.0	55.0					7																	74197898		2201	4298	6499	SO:0001583	missense	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74197898G>T	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.605G>T	7.37:g.74197898G>T	ENSP00000289473:p.Arg202Leu					NCF1_ENST00000443956.3_3'UTR	p.R202L	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN			7	675	+			202			SH3 1.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	c.605G>T	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.727993	0.89390	.	.	ENSG00000158517	ENST00000289473	T	0.52057	0.68	4.14	4.14	0.48551	Src homology-3 domain (4);	0.198849	0.42172	D	0.000743	T	0.62502	0.2433	L	0.55834	1.745	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	T	0.67369	-0.5688	10	0.72032	D	0.01	-17.5762	15.444	0.75213	0.0:0.0:1.0:0.0	.	202	P14598	NCF1_HUMAN	L	202	ENSP00000289473:R202L	ENSP00000289473:R202L	R	+	2	0	NCF1	73835834	1.000000	0.71417	0.735000	0.30896	0.855000	0.48748	7.069000	0.76755	1.886000	0.54624	0.289000	0.19496	CGA		0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		15	35	1	0	4.14922e-12	1	5.21015e-12	15	35				
CASD1	64921	broad.mit.edu	37	7	94163031	94163031	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94163031C>T	ENST00000297273.4	+	7	832	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	182						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GAAGCGCTTTCTCAATATAAA	0.318																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(544-546)tCt>tTt		CAS1 domain containing 1							75.0	76.0	76.0					7																	94163031		2203	4299	6502	SO:0001583	missense	64921					integral to membrane		g.chr7:94163031C>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.545C>T	7.37:g.94163031C>T	ENSP00000297273:p.Ser182Phe						p.S182F	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		7	832	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		182					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.545C>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542510	0.45280	.	.	ENSG00000127995	ENST00000447923;ENST00000297273	T	0.15603	2.41	5.27	5.27	0.74061	.	0.789917	0.12091	N	0.500384	T	0.09862	0.0242	N	0.02011	-0.69	0.26158	N	0.980043	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.35301	-0.9794	10	0.49607	T	0.09	.	19.2565	0.93948	0.0:1.0:0.0:0.0	.	182;182;182	Q8WZ77;Q96PB1;B2RAS9	.;CASD1_HUMAN;.	F	113;182	ENSP00000297273:S182F	ENSP00000297273:S182F	S	+	2	0	CASD1	94000967	0.013000	0.17824	1.000000	0.80357	0.941000	0.58515	2.587000	0.46128	2.619000	0.88677	0.563000	0.77884	TCT		0.318	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		6	33	0	0	0	1	0	6	33				
ZNF813	126017	broad.mit.edu	37	19	53989942	53989942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53989942C>A	ENST00000396403.4	+	3	200	c.72C>A	c.(70-72)tgC>tgA	p.C24*	ZNF813_ENST00000396421.4_Nonsense_Mutation_p.C24*	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGTGGAAATGCCTGGACCCTG	0.473																																						ENST00000396403.4																			0				large_intestine(1)	1						c.(70-72)tgC>tgA		zinc finger protein 813							59.0	66.0	64.0					19																	53989942		2193	4264	6457	SO:0001587	stop_gained	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53989942C>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.72C>A	19.37:g.53989942C>A	ENSP00000379684:p.Cys24*					ZNF813_ENST00000396421.4_Nonsense_Mutation_p.C24*	p.C24*	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	3	200	+			24			KRAB.			Nonsense_Mutation	SNP	ENST00000396403.4	37	c.72C>A	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226200	0.58668	.	.	ENSG00000198346	ENST00000396403;ENST00000490956;ENST00000396421	.	.	.	1.05	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.51767	A	0.999937	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.6727	0.05071	0.0:0.4639:0.3133:0.2227	.	.	.	.	X	24	.	ENSP00000379684:C24X	C	+	3	2	ZNF813	58681754	0.065000	0.20965	0.996000	0.52242	0.934000	0.57294	-0.098000	0.11024	0.549000	0.28973	0.388000	0.25769	TGC		0.473	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		32	109	1	0	9.39024e-22	1	1.29924e-21	32	109				
CHST7	56548	broad.mit.edu	37	X	46433855	46433855	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:46433855C>T	ENST00000276055.3	+	1	637	c.489C>T	c.(487-489)tgC>tgT	p.C163C		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	163					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TCTTCCGCTGCGACTTCTCCG	0.701																																						ENST00000276055.3																			0				breast(3)|endometrium(2)|kidney(1)|lung(2)	8						c.(487-489)tgC>tgT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7							25.0	25.0	25.0					X																	46433855		2201	4293	6494	SO:0001819	synonymous_variant	56548				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity	g.chrX:46433855C>T	AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"""Sulfotransferases, membrane-bound"""	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.489C>T	X.37:g.46433855C>T							p.C163C	NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN			1	637	+			163					O75667	Silent	SNP	ENST00000276055.3	37	c.489C>T	CCDS14268.1																																																																																				0.701	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1	NM_019886		18	28	0	0	0	1	0	18	28				
NAT8	9027	broad.mit.edu	37	2	73868634	73868634	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73868634C>T	ENST00000272425.3	-	2	271	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TATGAGGGTTCGAGGCAGCTT	0.622																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(121-123)cGa>cAa		N-acetyltransferase 8 (GCN5-related, putative)							77.0	90.0	86.0					2																	73868634		2203	4300	6503	SO:0001583	missense	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868634C>T	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.122G>A	2.37:g.73868634C>T	ENSP00000272425:p.Arg41Gln						p.R41Q	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	271	-			41						Missense_Mutation	SNP	ENST00000272425.3	37	c.122G>A	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557698	0.27827	.	.	ENSG00000144035	ENST00000272425	T	0.31769	1.48	3.86	-4.38	0.03622	.	0.773939	0.11970	N	0.511880	T	0.16896	0.0406	L	0.33792	1.035	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.23904	-1.0175	10	0.22109	T	0.4	1.1326	6.4731	0.22020	0.0:0.4345:0.1211:0.4444	.	41	Q9UHE5	NAT8_HUMAN	Q	41	ENSP00000272425:R41Q	ENSP00000272425:R41Q	R	-	2	0	NAT8	73722142	0.000000	0.05858	0.004000	0.12327	0.177000	0.22998	-0.472000	0.06623	-1.159000	0.02807	-0.147000	0.13772	CGA		0.622	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		51	71	0	0	0	1	0	51	71				
UBA1	7317	broad.mit.edu	37	X	47060346	47060346	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47060346C>T	ENST00000335972.6	+	6	717	c.534C>T	c.(532-534)ttC>ttT	p.F178F	UBA1_ENST00000377351.4_Silent_p.F178F	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	178	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGGTGAGTTCTGTCACAACC	0.632																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(532-534)ttC>ttT		ubiquitin-like modifier activating enzyme 1							84.0	61.0	69.0					X																	47060346		2202	4294	6496	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47060346C>T	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.534C>T	X.37:g.47060346C>T						UBA1_ENST00000377351.4_Silent_p.F178F	p.F178F	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			6	717	+			178			2 approximate repeats.		Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.534C>T	CCDS14275.1																																																																																				0.632	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		6	13	0	0	0	1	0	6	13				
C1orf54	79630	broad.mit.edu	37	1	150248154	150248154	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150248154C>A	ENST00000369102.1	+	5	905	c.135C>A	c.(133-135)gaC>gaA	p.D45E	C1orf54_ENST00000369098.3_Missense_Mutation_p.D45E|C1orf54_ENST00000369099.3_Missense_Mutation_p.D45E			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	45						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCAGATGACTTTAGTGCAG	0.333																																						ENST00000369102.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(133-135)gaC>gaA		chromosome 1 open reading frame 54							80.0	76.0	77.0					1																	150248154		2203	4300	6503	SO:0001583	missense	79630					extracellular region		g.chr1:150248154C>A	BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.135C>A	1.37:g.150248154C>A	ENSP00000358098:p.Asp45Glu					C1orf54_ENST00000369099.3_Missense_Mutation_p.D45E|C1orf54_ENST00000369098.3_Missense_Mutation_p.D45E	p.D45E			Q8WWF1	CA054_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	905	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		45					Q9H5P3	Missense_Mutation	SNP	ENST00000369102.1	37	c.135C>A	CCDS948.1	.	.	.	.	.	.	.	.	.	.	c	8.712	0.912200	0.17907	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	3.82	-0.198	0.13224	.	0.251936	0.28268	N	0.015961	T	0.06508	0.0167	N	0.19112	0.55	0.23411	N	0.997732	B;B	0.23540	0.087;0.087	B;B	0.23018	0.043;0.043	T	0.29058	-1.0024	9	0.37606	T	0.19	-5.4236	3.7625	0.08609	0.0:0.4967:0.1843:0.3189	.	45;45	Q5TB16;Q8WWF1	.;CA054_HUMAN	E	45	.	ENSP00000358094:D45E	D	+	3	2	C1orf54	148514778	0.009000	0.17119	0.862000	0.33874	0.929000	0.56500	-0.464000	0.06688	-0.022000	0.13986	-0.215000	0.12644	GAC		0.333	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1	NM_024579		7	15	1	0	0.00307968	1	0.00320271	7	15				
PRNP	5621	broad.mit.edu	37	20	4680119	4680119	+	Missense_Mutation	SNP	C	C	A	rs144328292		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4680119C>A	ENST00000379440.4	+	2	540	c.253C>A	c.(253-255)Cat>Aat	p.H85N	PRNP_ENST00000430350.2_Missense_Mutation_p.H85N	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	14						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						GGGACAGCCTCATGGTGGTGG	0.647																																						ENST00000379440.4																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						c.(253-255)Cat>Aat		prion protein	Tetracycline(DB00759)						28.0	28.0	28.0					20																	4680119		2201	4300	6501	SO:0001583	missense	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680119C>A	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.253C>A	20.37:g.4680119C>A	ENSP00000368752:p.His85Asn					PRNP_ENST00000430350.2_Missense_Mutation_p.H85N	p.H85N	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	540	+			85			5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|Interaction with GRB2, ERI3 and SYN1 (By similarity).			Missense_Mutation	SNP	ENST00000379440.4	37	c.253C>A	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623810	0.66901	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;T	0.91577	-2.65;-2.65;-2.87;-1.42	5.02	5.02	0.67125	.	0.106709	0.41605	D	0.000857	D	0.94411	0.8202	M	0.69823	2.125	0.45914	D	0.998757	D;D;P	0.71674	0.958;0.998;0.948	D;D;P	0.79784	0.943;0.993;0.684	D	0.94685	0.7869	10	0.72032	D	0.01	-19.9082	14.1892	0.65628	0.0:1.0:0.0:0.0	.	85;85;85	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	N	85;85;85;24;85	ENSP00000368752:H85N;ENSP00000399376:H85N;ENSP00000411599:H85N;ENSP00000415284:H85N	ENSP00000368752:H85N	H	+	1	0	PRNP	4628119	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	3.412000	0.52679	2.496000	0.84212	0.655000	0.94253	CAT		0.647	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		15	59	1	0	6.31663e-08	1	7.35827e-08	15	59				
IFT172	26160	broad.mit.edu	37	2	27700448	27700448	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27700448T>G	ENST00000260570.3	-	12	1302	c.1199A>C	c.(1198-1200)aAg>aCg	p.K400T	IFT172_ENST00000359466.6_Missense_Mutation_p.K400T|RNU6-986P_ENST00000363133.1_RNA|IFT172_ENST00000416524.2_Missense_Mutation_p.K379T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	400					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AAAGAAATACTTCTCATTGCC	0.403																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(1198-1200)aAg>aCg		intraflagellar transport 172 homolog (Chlamydomonas)							112.0	103.0	106.0					2																	27700448		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27700448T>G	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1199A>C	2.37:g.27700448T>G	ENSP00000260570:p.Lys400Thr					IFT172_ENST00000359466.6_Missense_Mutation_p.K400T|IFT172_ENST00000416524.2_Missense_Mutation_p.K379T	p.K400T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			12	1302	-	Acute lymphoblastic leukemia(172;0.155)		400					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.1199A>C	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774258	0.90108	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;D;D	0.95853	3.48;-3.83;-3.83	5.85	5.85	0.93711	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.88031	2.925	0.80722	D	1	D;P;D;P	0.62365	0.983;0.858;0.991;0.524	D;P;P;P	0.63793	0.918;0.71;0.887;0.502	D	0.98537	1.0630	10	0.87932	D	0	-22.3492	15.0523	0.71885	0.0:0.0:0.0:1.0	.	400;400;374;400	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	T	400;400;379	ENSP00000260570:K400T;ENSP00000352443:K400T;ENSP00000407408:K379T	ENSP00000260570:K400T	K	-	2	0	IFT172	27553952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.455000	0.73497	2.234000	0.73211	0.528000	0.53228	AAG		0.403	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		16	30	0	0	0	1	0	16	30				
FAM154B	283726	broad.mit.edu	37	15	82575144	82575144	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:82575144T>G	ENST00000339465.5	+	3	1007	c.938T>G	c.(937-939)tTt>tGt	p.F313C	FAM154B_ENST00000427381.2_Missense_Mutation_p.F298C|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	313										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCTGGAAAATTTGATGGTTTG	0.393																																						ENST00000339465.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						c.(937-939)tTt>tGt		family with sequence similarity 154, member B							56.0	58.0	57.0					15																	82575144		2203	4299	6502	SO:0001583	missense	283726							g.chr15:82575144T>G	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.938T>G	15.37:g.82575144T>G	ENSP00000340445:p.Phe313Cys					FAM154B_ENST00000427381.2_Missense_Mutation_p.F298C|FAM154B_ENST00000565501.1_3'UTR	p.F313C	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN			3	1007	+			313					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.938T>G	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943078	0.53079	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.21191	2.02;2.02	4.46	3.3	0.37823	.	0.155205	0.43579	D	0.000557	T	0.47135	0.1429	M	0.84326	2.69	0.40308	D	0.978687	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51332	-0.8719	10	0.72032	D	0.01	-7.3497	11.2612	0.49085	0.0:0.0:0.1537:0.8463	.	298;313	B4E2M2;Q658L1	.;F154B_HUMAN	C	313;298	ENSP00000340445:F313C;ENSP00000403743:F298C	ENSP00000340445:F313C	F	+	2	0	FAM154B	80362199	1.000000	0.71417	0.900000	0.35374	0.838000	0.47535	6.515000	0.73751	0.643000	0.30638	-0.836000	0.03065	TTT		0.393	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		25	39	0	0	0	1	0	25	39				
FLNA	2316	broad.mit.edu	37	X	153593318	153593318	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153593318C>T	ENST00000369850.3	-	12	1935	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	FLNA_ENST00000344736.4_Missense_Mutation_p.E567K|FLNA_ENST00000360319.4_Missense_Mutation_p.E567K|FLNA_ENST00000422373.1_Missense_Mutation_p.E567K	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	567					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)					ACCTTCACTTCGAAGGGACTG	0.632																																						ENST00000422373.1																			0				breast(6)	6						c.(1699-1701)Gaa>Aaa		filamin A, alpha							81.0	91.0	88.0					X																	153593318		2091	4192	6283	SO:0001583	missense	0				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:153593318C>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.1699G>A	X.37:g.153593318C>T	ENSP00000358866:p.Glu567Lys					FLNA_ENST00000360319.4_Missense_Mutation_p.E567K|FLNA_ENST00000369850.3_Missense_Mutation_p.E567K|FLNA_ENST00000344736.4_Missense_Mutation_p.E567K	p.E567K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			12	1947	-	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)		567					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1699G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642260	0.29157	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	4.32	4.32	0.51571	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000003	D	0.86843	0.6030	L	0.45422	1.42	0.80722	D	1	D;B	0.65815	0.995;0.103	P;B	0.62813	0.907;0.086	D	0.88760	0.3256	10	0.87932	D	0	.	16.2408	0.82408	0.0:1.0:0.0:0.0	.	567;567	P21333-2;P21333	.;FLNA_HUMAN	K	567;540;567;567;567	ENSP00000353467:E567K;ENSP00000416926:E567K;ENSP00000358866:E567K;ENSP00000358863:E567K	ENSP00000358863:E567K	E	-	1	0	FLNA	153246512	1.000000	0.71417	0.882000	0.34594	0.150000	0.21749	6.074000	0.71253	1.736000	0.51660	0.458000	0.33432	GAA		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			9	171	0	0	0	1	0	9	171				
RBP3	5949	broad.mit.edu	37	10	48389205	48389205	+	Missense_Mutation	SNP	G	G	A	rs376396466		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48389205G>A	ENST00000224600.4	-	1	1786	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	558	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCAGCCCAGCGACTGCATAAG	0.687																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1672-1674)tCg>tTg		retinol binding protein 3, interstitial	Vitamin A(DB00162)	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	52.0	53.0	53.0		1673	5.4	1.0	10		53	0,8600		0,0,4300	no	missense	RBP3	NM_002900.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	558/1248	48389205	1,13005	2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389205G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1673C>T	10.37:g.48389205G>A	ENSP00000224600:p.Ser558Leu						p.S558L	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1786	-			558			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1673C>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242849	0.58995	2.27E-4	0.0	ENSG00000107618	ENST00000224600	T	0.63744	-0.06	5.43	5.43	0.79202	Interphotoreceptor retinol-binding (2);	0.065730	0.64402	D	0.000010	T	0.81583	0.4853	M	0.84683	2.71	0.54753	D	0.999984	D	0.89917	1.0	D	0.70016	0.967	D	0.84509	0.0621	10	0.87932	D	0	-19.4469	18.2231	0.89907	0.0:0.0:1.0:0.0	.	558	P10745	RET3_HUMAN	L	558	ENSP00000224600:S558L	ENSP00000224600:S558L	S	-	2	0	RBP3	48009211	1.000000	0.71417	0.964000	0.40570	0.990000	0.78478	6.914000	0.75764	2.571000	0.86741	0.561000	0.74099	TCG		0.687	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		26	51	0	0	0	1	0	26	51				
HEATR5B	54497	broad.mit.edu	37	2	37287862	37287862	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37287862G>A	ENST00000233099.5	-	12	1806	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R571C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	571						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R571C(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGATGGTAACGAACGACAGAT	0.418																																						ENST00000233099.5																			1	Substitution - Missense(1)	p.R571C(1)	skin(1)	breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(1711-1713)Cgt>Tgt		HEAT repeat containing 5B							102.0	92.0	96.0					2																	37287862		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37287862G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1711C>T	2.37:g.37287862G>A	ENSP00000233099:p.Arg571Cys					HEATR5B_ENST00000354531.2_Missense_Mutation_p.R571C	p.R571C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			12	1806	-		all_hematologic(82;0.21)	571					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.1711C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096619	0.76870	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.08896	3.04;3.04	5.01	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	T	0.00690	-1.1608	10	0.87932	D	0	-19.852	18.6771	0.91532	0.0:0.0:1.0:0.0	.	571	Q9P2D3	HTR5B_HUMAN	C	571	ENSP00000233099:R571C;ENSP00000346531:R571C	ENSP00000233099:R571C	R	-	1	0	HEATR5B	37141366	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	5.509000	0.67012	2.486000	0.83907	0.563000	0.77884	CGT		0.418	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		31	38	0	0	0	1	0	31	38				
FRG1B	284802	broad.mit.edu	37	20	29628302	29628302	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:29628302A>C	ENST00000278882.3	+	6	684	c.304A>C	c.(304-306)Aaa>Caa	p.K102Q	FRG1B_ENST00000358464.4_Missense_Mutation_p.K102Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.K107Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	102										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGCAAAAAGTAAAACAGCAGG	0.348																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(304-306)Aaa>Caa																																						SO:0001583	missense	0							g.chr20:29628302A>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.304A>C	20.37:g.29628302A>C	ENSP00000278882:p.Lys102Gln					FRG1B_ENST00000358464.4_Missense_Mutation_p.K102Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.K107Q	p.K102Q							6	684	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.304A>C		.	.	.	.	.	.	.	.	.	.	a	14.49	2.550497	0.45383	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.47528	0.84	2.08	2.08	0.27032	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	.	.	.	0.42333	D	0.992307	B;P	0.36683	0.001;0.565	B;P	0.48141	0.007;0.568	T	0.46679	-0.9174	9	0.39692	T	0.17	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	107;102	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	Q	102;107;102	ENSP00000408863:K107Q	ENSP00000278882:K102Q	K	+	1	0	FRG1B	28241963	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.016000	0.64041	1.208000	0.43306	0.347000	0.21830	AAA		0.348	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	92	0	0	0	1	0	4	92				
DCHS2	54798	broad.mit.edu	37	4	155180752	155180752	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155180752C>A	ENST00000357232.4	-	20	5368	c.5369G>T	c.(5368-5370)aGc>aTc	p.S1790I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1790	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGTAAATGCTTTGTTCAAA	0.408																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(5368-5370)aGc>aTc		dachsous cadherin-related 2							213.0	191.0	198.0					4																	155180752		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155180752C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5369G>T	4.37:g.155180752C>A	ENSP00000349768:p.Ser1790Ile						p.S1790I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	20	5368	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1790			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5369G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509050	0.27036	.	.	ENSG00000197410	ENST00000357232	T	0.61980	0.06	5.52	2.84	0.33178	Cadherin (2);Cadherin-like (1);	0.730502	0.13786	N	0.362894	T	0.67674	0.2918	M	0.81112	2.525	0.23221	N	0.99809	D	0.57899	0.981	P	0.54140	0.743	T	0.58075	-0.7700	10	0.40728	T	0.16	.	2.0313	0.03529	0.1395:0.4986:0.1353:0.2266	.	1790	Q6V1P9	PCD23_HUMAN	I	1790	ENSP00000349768:S1790I	ENSP00000349768:S1790I	S	-	2	0	DCHS2	155400202	0.066000	0.20996	0.006000	0.13384	0.008000	0.06430	0.341000	0.19909	0.367000	0.24454	0.655000	0.94253	AGC		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		33	56	1	0	4.74835e-14	1	6.14782e-14	33	56				
DNAJC11	55735	broad.mit.edu	37	1	6712926	6712926	+	Missense_Mutation	SNP	G	G	A	rs201917830		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6712926G>A	ENST00000377577.5	-	6	716	c.593C>T	c.(592-594)gCg>gTg	p.A198V	DNAJC11_ENST00000377573.5_Missense_Mutation_p.A108V|DNAJC11_ENST00000542246.1_Missense_Mutation_p.A160V|DNAJC11_ENST00000349363.6_Missense_Mutation_p.A160V|DNAJC11_ENST00000294401.7_Missense_Mutation_p.A198V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	198						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTCTGAGCGCAAAGTTAAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21104	0.001		0.0	False		,,,				2504	0.0					ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(592-594)gCg>gTg		DnaJ (Hsp40) homolog, subfamily C, member 11							143.0	133.0	136.0					1																	6712926		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6712926G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.593C>T	1.37:g.6712926G>A	ENSP00000366800:p.Ala198Val					DNAJC11_ENST00000377573.5_Missense_Mutation_p.A108V|DNAJC11_ENST00000542246.1_Missense_Mutation_p.A160V|DNAJC11_ENST00000349363.6_Missense_Mutation_p.A160V|DNAJC11_ENST00000294401.7_Missense_Mutation_p.A198V	p.A198V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	6	716	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	198					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.593C>T	CCDS87.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.7	4.564034	0.86335	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	T;T;T;T;T;T;T	0.31247	2.63;1.91;1.5;2.64;2.38;2.06;2.52	5.36	5.36	0.76844	.	0.102446	0.64402	D	0.000002	T	0.25901	0.0631	L	0.44542	1.39	0.80722	D	1	P;B;B;P	0.47253	0.87;0.449;0.212;0.892	B;B;B;B	0.37144	0.081;0.037;0.043;0.242	T	0.04467	-1.0949	10	0.17369	T	0.5	-0.6343	18.4511	0.90704	0.0:0.0:1.0:0.0	.	108;174;198;198	B4DGD5;Q5TH61;Q9NVH1-3;Q9NVH1	.;.;.;DJC11_HUMAN	V	198;174;160;198;160;108;198	ENSP00000366800:A198V;ENSP00000415871:A174V;ENSP00000326304:A160V;ENSP00000294401:A198V;ENSP00000444020:A160V;ENSP00000366796:A108V;ENSP00000410194:A198V	ENSP00000294401:A198V	A	-	2	0	DNAJC11	6635513	1.000000	0.71417	0.678000	0.29963	0.990000	0.78478	6.150000	0.71801	2.666000	0.90696	0.655000	0.94253	GCG		0.463	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		32	47	0	0	0	1	0	32	47				
MPHOSPH10	10199	broad.mit.edu	37	2	71368389	71368389	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71368389A>C	ENST00000244230.2	+	7	1688	c.1336A>C	c.(1336-1338)Aaa>Caa	p.K446Q		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	446					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ACGTAAAGAAAAACCTAAAGA	0.343																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(1336-1338)Aaa>Caa		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							140.0	151.0	147.0					2																	71368389		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71368389A>C	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1336A>C	2.37:g.71368389A>C	ENSP00000244230:p.Lys446Gln						p.K446Q	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			7	1688	+			446					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.1336A>C	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.652414	0.88056	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.11495	2.77;2.77	5.52	5.52	0.82312	.	0.091120	0.64402	D	0.000001	T	0.25082	0.0609	M	0.62154	1.92	0.51482	D	0.999922	D	0.59767	0.986	P	0.62813	0.907	T	0.03503	-1.1030	10	0.15952	T	0.53	.	13.8958	0.63770	1.0:0.0:0.0:0.0	.	446	O00566	MPP10_HUMAN	Q	446;306	ENSP00000244230:K446Q;ENSP00000393034:K306Q	ENSP00000244230:K446Q	K	+	1	0	MPHOSPH10	71221897	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	8.391000	0.90177	2.235000	0.73313	0.402000	0.26972	AAA		0.343	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		55	107	0	0	0	1	0	55	107				
FHL2	2274	broad.mit.edu	37	2	106002940	106002940	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:106002940C>T	ENST00000409807.1	-	2	368	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	FHL2_ENST00000607522.1_Missense_Mutation_p.E12K|FHL2_ENST00000322142.8_Missense_Mutation_p.E12K|FHL2_ENST00000393352.3_Missense_Mutation_p.E12K|FHL2_ENST00000408995.1_Missense_Mutation_p.E12K|FHL2_ENST00000344213.4_Missense_Mutation_p.E122K|FHL2_ENST00000393353.3_Missense_Mutation_p.E12K|FHL2_ENST00000336660.5_Missense_Mutation_p.E12K|FHL2_ENST00000358129.4_Missense_Mutation_p.E12K|FHL2_ENST00000409177.1_Missense_Mutation_p.E128K			Q14192	FHL2_HUMAN	four and a half LIM domains 2	12					androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AAGAGAGATTCGTTGCAATGG	0.498																																						ENST00000409177.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(382-384)Gaa>Aaa		four and a half LIM domains 2							92.0	90.0	91.0					2																	106002940		2203	4300	6503	SO:0001583	missense	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:106002940C>T		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.34G>A	2.37:g.106002940C>T	ENSP00000386665:p.Glu12Lys					FHL2_ENST00000393353.3_Missense_Mutation_p.E12K|FHL2_ENST00000393352.3_Missense_Mutation_p.E12K|FHL2_ENST00000322142.8_Missense_Mutation_p.E12K|FHL2_ENST00000344213.4_Missense_Mutation_p.E122K|FHL2_ENST00000607522.1_Missense_Mutation_p.E12K|FHL2_ENST00000358129.4_Missense_Mutation_p.E12K|FHL2_ENST00000336660.5_Missense_Mutation_p.E12K|FHL2_ENST00000408995.1_Missense_Mutation_p.E12K|FHL2_ENST00000409807.1_Missense_Mutation_p.E12K	p.E128K			Q14192	FHL2_HUMAN			2	503	-			12			LIM zinc-binding 2.		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000409807.1	37	c.382G>A	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777283	0.70107	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000336660;ENST00000358129;ENST00000409807;ENST00000408995;ENST00000447958	D;D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.76	4.88	0.63580	Zinc finger, LIM-type (1);	0.240194	0.41396	N	0.000888	T	0.76271	0.3964	N	0.17345	0.48	0.54753	D	0.999983	B;B;B;B	0.11235	0.004;0.002;0.003;0.004	B;B;B;B	0.10450	0.003;0.003;0.003;0.005	T	0.72050	-0.4407	10	0.54805	T	0.06	.	15.2616	0.73628	0.0:0.9324:0.0:0.0676	.	12;12;122;12	Q2TSB7;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	K	12;122;12;12;12;12;12;12;12;12	ENSP00000386892:E12K;ENSP00000344266:E122K;ENSP00000377021:E12K;ENSP00000377020:E12K;ENSP00000322909:E12K;ENSP00000338270:E12K;ENSP00000350846:E12K;ENSP00000386665:E12K;ENSP00000386633:E12K	ENSP00000322909:E12K	E	-	1	0	FHL2	105369372	1.000000	0.71417	0.006000	0.13384	0.995000	0.86356	4.948000	0.63590	1.576000	0.49790	0.655000	0.94253	GAA		0.498	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			25	64	0	0	0	1	0	25	64				
DDX4	54514	broad.mit.edu	37	5	55076927	55076927	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55076927G>A	ENST00000505374.1	+	9	622	c.530G>A	c.(529-531)cGc>cAc	p.R177H	DDX4_ENST00000514278.2_Missense_Mutation_p.R157H|DDX4_ENST00000354991.5_Missense_Mutation_p.R143H|DDX4_ENST00000353507.5_Missense_Mutation_p.R143H|DDX4_ENST00000511853.1_Missense_Mutation_p.R44H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	177	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTATGCAGCGCACTGGTGGC	0.338																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(529-531)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							103.0	103.0	103.0					5																	55076927		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55076927G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.530G>A	5.37:g.55076927G>A	ENSP00000424838:p.Arg177His					DDX4_ENST00000354991.5_Missense_Mutation_p.R143H|DDX4_ENST00000514278.2_Missense_Mutation_p.R157H|DDX4_ENST00000511853.1_Missense_Mutation_p.R44H|DDX4_ENST00000353507.5_Missense_Mutation_p.R143H	p.R177H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			9	622	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	177			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.530G>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241943	0.22796	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.23147	1.93;1.92;1.92;3.43;1.93;1.92	5.39	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	N	0.22421	0.69	0.23063	N	0.998351	P;D;P;D	0.60160	0.951;0.983;0.95;0.987	P;P;P;P	0.52627	0.518;0.609;0.548;0.704	T	0.06144	-1.0843	10	0.41790	T	0.15	-23.5032	12.0965	0.53757	0.0:0.1721:0.8279:0.0	.	157;44;143;177	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	H	143;157;177;157;143;44	ENSP00000334167:R143H;ENSP00000425359:R157H;ENSP00000424838:R177H;ENSP00000427167:R157H;ENSP00000347087:R143H;ENSP00000423123:R44H	ENSP00000334167:R143H	R	+	2	0	DDX4	55112684	0.935000	0.31712	0.275000	0.24674	0.005000	0.04900	2.780000	0.47742	1.496000	0.48567	-0.172000	0.13284	CGC		0.338	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		14	34	0	0	0	1	0	14	34				
PCDHB15	56121	broad.mit.edu	37	5	140627280	140627280	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140627280C>T	ENST00000231173.3	+	1	2134	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	712					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCAGTGCGGCTGTGCAG	0.672																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2134-2136)Cgg>Tgg									104.0	112.0	109.0					5																	140627280		2202	4298	6500	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627280C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2134C>T	5.37:g.140627280C>T	ENSP00000231173:p.Arg712Trp						p.R712W	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2134	+			712					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2134C>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469915	0.63625	.	.	ENSG00000113248	ENST00000231173	T	0.17054	2.3	4.48	0.41	0.16387	.	.	.	.	.	T	0.51415	0.1673	H	0.97131	3.945	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.40308	-0.9570	9	0.87932	D	0	.	8.9772	0.35944	0.7244:0.1853:0.0:0.0904	.	712	Q9Y5E8	PCDBF_HUMAN	W	712	ENSP00000231173:R712W	ENSP00000231173:R712W	R	+	1	2	PCDHB15	140607464	0.000000	0.05858	0.570000	0.28473	0.936000	0.57629	0.053000	0.14184	-0.014000	0.14175	-0.323000	0.08544	CGG		0.672	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		83	168	0	0	0	1	0	83	168				
MUC5B	727897	broad.mit.edu	37	11	1276394	1276394	+	Missense_Mutation	SNP	C	C	T	rs371978598		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1276394C>T	ENST00000529681.1	+	36	15846	c.15788C>T	c.(15787-15789)cCg>cTg	p.P5263L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P5266L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5263	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCTGGGCCCCGACTGGCACA	0.672													C|||	1	0.000199681	0.0	0.0014	5008	,	,		8778	0.0		0.0	False		,,,				2504	0.0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15796-15798)cCg>cTg		mucin 5B, oligomeric mucus/gel-forming		C	LEU/PRO	0,3942		0,0,1971	18.0	23.0	21.0		15788	0.1	0.0	11		21	1,8117		0,1,4058	no	missense	MUC5B	NM_002458.2	98	0,1,6029	TT,TC,CC		0.0123,0.0,0.0083	possibly-damaging	5263/5763	1276394	1,12059	1971	4059	6030	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1276394C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15788C>T	11.37:g.1276394C>T	ENSP00000436812:p.Pro5263Leu					MUC5B_ENST00000529681.1_Missense_Mutation_p.P5263L	p.P5266L			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	36	15855	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5263			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15797C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	8.737	0.917938	0.17982	0.0	1.23E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.18338	2.22;2.39	3.7	0.0633	0.14348	.	.	.	.	.	T	0.11110	0.0271	L	0.54323	1.7	0.09310	N	1	P;P	0.48640	0.913;0.913	B;B	0.30572	0.117;0.081	T	0.21895	-1.0232	9	0.87932	D	0	.	4.4962	0.11839	0.2267:0.5736:0.0:0.1998	.	5600;5266	A7Y9J9;E9PBJ0	.;.	L	5263;5266;5207;162;4975	ENSP00000436812:P5263L;ENSP00000415793:P5266L	ENSP00000343037:P5207L	P	+	2	0	MUC5B	1232970	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	0.071000	0.14594	-0.099000	0.12263	0.448000	0.29417	CCG		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	12	0	0	0	1	0	6	12				
PHIP	55023	broad.mit.edu	37	6	79650668	79650668	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:79650668T>G	ENST00000275034.4	-	40	5375	c.5208A>C	c.(5206-5208)aaA>aaC	p.K1736N	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1736					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCCTTAACACTTTGACACTTG	0.393																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(5206-5208)aaA>aaC		pleckstrin homology domain interacting protein							276.0	271.0	273.0					6																	79650668		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79650668T>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5208A>C	6.37:g.79650668T>G	ENSP00000275034:p.Lys1736Asn					PHIP_ENST00000479165.1_5'UTR	p.K1736N	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5375	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1736					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.5208A>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	3.487	-0.104608	0.06967	.	.	ENSG00000146247	ENST00000275034	T	0.44881	0.91	6.07	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	L	0.29908	0.895	0.50813	D	0.999897	P;P	0.46706	0.883;0.883	B;B	0.44224	0.444;0.444	T	0.01998	-1.1232	9	.	.	.	-26.1581	9.1621	0.37030	0.0:0.1893:0.0:0.8107	.	1736;1736	A7J992;Q8WWQ0	.;PHIP_HUMAN	N	1736	ENSP00000275034:K1736N	.	K	-	3	2	PHIP	79707387	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	1.337000	0.33862	1.116000	0.41820	-0.280000	0.10049	AAA		0.393	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			26	67	0	0	0	1	0	26	67				
GOLGB1	2804	broad.mit.edu	37	3	121416558	121416558	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121416558C>T	ENST00000340645.5	-	13	2922	c.2797G>A	c.(2797-2799)Gaa>Aaa	p.E933K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E938K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	933					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAGCTGTTCTTTAAGAGTC	0.348																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(2812-2814)Gaa>Aaa		golgin B1							93.0	102.0	99.0					3																	121416558		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121416558C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2797G>A	3.37:g.121416558C>T	ENSP00000341848:p.Glu933Lys					GOLGB1_ENST00000340645.5_Missense_Mutation_p.E933K	p.E938K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2922	-			933					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2812G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287010	0.59867	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.28069	2.23;2.24;1.63	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000004	T	0.51719	0.1691	M	0.64997	1.995	0.53688	D	0.999974	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.998;1.0	D;D;D;D;D	0.91635	0.994;0.988;0.994;0.991;0.999	T	0.30504	-0.9976	10	0.22706	T	0.39	.	16.6023	0.84819	0.0:1.0:0.0:0.0	.	858;897;938;938;933	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	933;938;897;745	ENSP00000341848:E933K;ENSP00000377275:E938K;ENSP00000418231:E897K	ENSP00000341848:E933K	E	-	1	0	GOLGB1	122899248	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.851000	0.48302	2.780000	0.95670	0.655000	0.94253	GAA		0.348	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		7	64	0	0	0	1	0	7	64				
KIF5C	3800	broad.mit.edu	37	2	149679780	149679780	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149679780G>A	ENST00000435030.1	+	2	569	c.201G>A	c.(199-201)gcG>gcA	p.A67A				O60282	KIF5C_HUMAN	kinesin family member 5C	67	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATGCATGTGCGAAGCAAATTG	0.413																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(199-201)gcG>gcA		kinesin family member 5C							99.0	99.0	99.0					2																	149679780		1901	4141	6042	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149679780G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.201G>A	2.37:g.149679780G>A							p.A67A			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	2	569	+			67			Kinesin-motor.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.201G>A																																																																																					0.413	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		15	20	0	0	0	1	0	15	20				
CCDC27	148870	broad.mit.edu	37	1	3680364	3680364	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3680364A>G	ENST00000294600.2	+	8	1500	c.1416A>G	c.(1414-1416)cgA>cgG	p.R472R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	472										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAGCTCCGAGAGCGGAGGC	0.567																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1414-1416)cgA>cgG		coiled-coil domain containing 27							43.0	43.0	43.0					1																	3680364		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3680364A>G		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1416A>G	1.37:g.3680364A>G							p.R472R	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	8	1500	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	472					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.1416A>G	CCDS50.1																																																																																				0.567	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		34	43	0	0	0	1	0	34	43				
MEPE	56955	broad.mit.edu	37	4	88766449	88766449	+	Silent	SNP	C	C	T	rs145299039		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88766449C>T	ENST00000424957.3	+	4	502	c.429C>T	c.(427-429)ggC>ggT	p.G143G	MEPE_ENST00000497649.2_Silent_p.G119G|MEPE_ENST00000560249.1_Silent_p.G30G|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Silent_p.G30G|MEPE_ENST00000395102.4_Silent_p.G174G|MEPE_ENST00000361056.3_Silent_p.G143G	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	143					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGAATATGGCGCAGCTCTCA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		17076	0.0		0.001	False		,,,				2504	0.0					ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(355-357)ggC>ggT		matrix extracellular phosphoglycoprotein							67.0	66.0	66.0					4																	88766449		2203	4300	6503	SO:0001819	synonymous_variant	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766449C>T	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.429C>T	4.37:g.88766449C>T						MEPE_ENST00000560249.1_Silent_p.G30G|MEPE_ENST00000361056.3_Silent_p.G143G|MEPE_ENST00000540395.1_Silent_p.G30G|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Silent_p.G174G|MEPE_ENST00000424957.3_Silent_p.G143G	p.G119G			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	735	+		Hepatocellular(203;0.114)	143					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Silent	SNP	ENST00000424957.3	37	c.357C>T	CCDS3625.1																																																																																				0.428	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			29	49	0	0	0	1	0	29	49				
GLOD4	51031	broad.mit.edu	37	17	673156	673156	+	Nonsense_Mutation	SNP	G	G	A	rs184466050	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:673156G>A	ENST00000301328.5	-	9	852	c.829C>T	c.(829-831)Cga>Tga	p.R277*	GLOD4_ENST00000536578.1_Nonsense_Mutation_p.R253*|GLOD4_ENST00000301329.6_Nonsense_Mutation_p.R262*			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	277						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAAAGTTCTCGAAATGCTTCA	0.448													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20577	0.0		0.0	False		,,,				2504	0.0					ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(784-786)Cga>Tga		glyoxalase domain containing 4							125.0	108.0	114.0					17																	673156		2203	4300	6503	SO:0001587	stop_gained	51031					mitochondrion		g.chr17:673156G>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.829C>T	17.37:g.673156G>A	ENSP00000301328:p.Arg277*					GLOD4_ENST00000536578.1_Nonsense_Mutation_p.R253*|GLOD4_ENST00000301328.5_Nonsense_Mutation_p.R277*	p.R262*	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	8	869	-			277					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Nonsense_Mutation	SNP	ENST00000301328.5	37	c.784C>T		2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	35	5.491439	0.96339	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	.	.	.	5.91	4.95	0.65309	.	0.113326	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2901	14.1362	0.65289	0.0715:0.0:0.9285:0.0	.	.	.	.	X	262;465;277;253	.	ENSP00000301328:R277X	R	-	1	2	GLOD4	619906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.949000	0.40313	1.515000	0.48885	0.655000	0.94253	CGA		0.448	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		18	36	0	0	0	1	0	18	36				
DNALI1	7802	broad.mit.edu	37	1	38025037	38025037	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38025037C>T	ENST00000296218.7	+	3	413	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	DNALI1_ENST00000541606.1_Intron	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	113					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCAGCAGCGGCAGGCCAG	0.592																																						ENST00000296218.7																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(403-405)Cgg>Tgg		dynein, axonemal, light intermediate chain 1							67.0	57.0	60.0					1																	38025037		2203	4300	6503	SO:0001583	missense	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38025037C>T	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.403C>T	1.37:g.38025037C>T	ENSP00000296218:p.Arg135Trp					DNALI1_ENST00000541606.1_Intron	p.R135W	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN			3	413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	113					A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	c.403C>T	CCDS420.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720871	0.68959	.	.	ENSG00000163879	ENST00000296218	T	0.54479	0.57	5.02	2.92	0.33932	.	0.151334	0.56097	D	0.000021	T	0.62672	0.2447	H	0.95745	3.715	0.80722	D	1	B	0.26081	0.141	B	0.22880	0.042	T	0.68648	-0.5353	10	0.59425	D	0.04	-16.8774	11.0439	0.47846	0.149:0.7157:0.1352:0.0	.	113	O14645	IDLC_HUMAN	W	135	ENSP00000296218:R135W	ENSP00000296218:R135W	R	+	1	2	DNALI1	37797624	0.993000	0.37304	1.000000	0.80357	0.983000	0.72400	0.387000	0.20718	1.178000	0.42870	0.563000	0.77884	CGG		0.592	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		21	35	0	0	0	1	0	21	35				
SRPK2	6733	broad.mit.edu	37	7	104801000	104801000	+	Missense_Mutation	SNP	T	T	G	rs187516666		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:104801000T>G	ENST00000393651.3	-	7	662	c.575A>C	c.(574-576)aAc>aCc	p.N192T	SRPK2_ENST00000489828.1_Missense_Mutation_p.N181T|SRPK2_ENST00000357311.3_Missense_Mutation_p.N181T	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GCCTTGATAGTTGGATTTGAT	0.493																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(541-543)aAc>aCc		SRSF protein kinase 2							225.0	183.0	197.0					7																	104801000		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104801000T>G	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.575A>C	7.37:g.104801000T>G	ENSP00000377262:p.Asn192Thr					SRPK2_ENST00000393651.3_Missense_Mutation_p.N192T|SRPK2_ENST00000489828.1_Missense_Mutation_p.N181T	p.N181T	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			6	713	-			181			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.542A>C	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441002	0.83993	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897	T;T;T;T	0.24723	1.84;1.84;1.84;3.2	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051963	0.85682	D	0.000000	T	0.31420	0.0796	L	0.48218	1.51	0.80722	D	1	B;B	0.25390	0.125;0.066	B;B	0.34779	0.156;0.189	T	0.09037	-1.0693	10	0.72032	D	0.01	-22.2284	16.1708	0.81812	0.0:0.0:0.0:1.0	.	192;181	P78362-2;P78362	.;SRPK2_HUMAN	T	192;181;181;229	ENSP00000377262:N192T;ENSP00000349863:N181T;ENSP00000419791:N181T;ENSP00000419240:N229T	ENSP00000349863:N181T	N	-	2	0	SRPK2	104588236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.225000	0.72522	0.533000	0.62120	AAC		0.493	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		23	34	0	0	0	1	0	23	34				
SNCAIP	9627	broad.mit.edu	37	5	121761114	121761114	+	Missense_Mutation	SNP	C	C	T	rs553473278		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121761114C>T	ENST00000261368.8	+	5	1332	c.1070C>T	c.(1069-1071)gCg>gTg	p.A357V	SNCAIP_ENST00000503116.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000261367.7_Missense_Mutation_p.A404V|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000504884.2_Silent_p.C66C|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	357					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTACATATTGCGGCGTCACAG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19204	0.0		0.0	False		,,,				2504	0.001					ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1210-1212)gCg>gTg		synuclein, alpha interacting protein							115.0	118.0	117.0					5																	121761114		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121761114C>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1070C>T	5.37:g.121761114C>T	ENSP00000261368:p.Ala357Val					SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.A357V|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Silent_p.C66C	p.A404V			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	7	2639	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	357					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1211C>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635284	0.67130	.	.	ENSG00000064692	ENST00000261368;ENST00000379533;ENST00000261367;ENST00000503116	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.67	5.67	0.87782	Ankyrin repeat-containing domain (4);	0.055615	0.64402	D	0.000001	D	0.90092	0.6905	M	0.78916	2.43	0.80722	D	1	D;P;D	0.89917	0.992;0.912;1.0	P;B;D	0.70227	0.743;0.208;0.968	D	0.90657	0.4587	10	0.87932	D	0	-19.3756	19.773	0.96379	0.0:1.0:0.0:0.0	.	404;404;357	Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;SNCAP_HUMAN	V	357;404;404;404	ENSP00000261368:A357V;ENSP00000368848:A404V;ENSP00000261367:A404V;ENSP00000423199:A404V	ENSP00000261367:A404V	A	+	2	0	SNCAIP	121789013	1.000000	0.71417	0.183000	0.23137	0.032000	0.12392	7.256000	0.78350	2.677000	0.91161	0.655000	0.94253	GCG		0.453	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			41	96	0	0	0	1	0	41	96				
AGFG1	3267	broad.mit.edu	37	2	228416723	228416723	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228416723C>A	ENST00000310078.8	+	11	1687	c.1427C>A	c.(1426-1428)aCt>aAt	p.T476N	AGFG1_ENST00000409979.2_Missense_Mutation_p.T500N|AGFG1_ENST00000409315.1_Missense_Mutation_p.T455N|AGFG1_ENST00000409171.1_Missense_Mutation_p.T476N|AGFG1_ENST00000373671.3_Missense_Mutation_p.T436N	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	476					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GGATTCGGCACTCCTGCTCCC	0.507																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(1426-1428)aCt>aAt		ArfGAP with FG repeats 1							148.0	132.0	137.0					2																	228416723		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228416723C>A		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1427C>A	2.37:g.228416723C>A	ENSP00000312059:p.Thr476Asn					AGFG1_ENST00000373671.3_Missense_Mutation_p.T436N|AGFG1_ENST00000409979.2_Missense_Mutation_p.T500N|AGFG1_ENST00000409315.1_Missense_Mutation_p.T455N|AGFG1_ENST00000409171.1_Missense_Mutation_p.T476N	p.T476N	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			11	1687	+			476					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1427C>A	CCDS2467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.56|14.56	2.572042|2.572042	0.45798|0.45798	.|.	.|.	ENSG00000173744|ENSG00000173744	ENST00000458212|ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	.|T;T;T;T;T	.|0.23754	.|1.99;1.92;1.94;1.89;1.91	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.100004	.|0.64402	.|D	.|0.000003	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.10874|0.10874	0.06|0.06	0.45867|0.45867	D|D	0.998725|0.998725	.|B;B;B;B	.|0.15141	.|0.012;0.002;0.005;0.002	.|B;B;B;B	.|0.12156	.|0.007;0.003;0.006;0.002	T|T	0.10965|0.10965	-1.0607|-1.0607	5|10	.|0.14656	.|T	.|0.56	.|.	19.3979|19.3979	0.94614|0.94614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|436;476;500;476	.|P52594-2;P52594-3;E9PHX7;P52594	.|.;.;.;AGFG1_HUMAN	I|N	46|500;485;476;455;436;476	.|ENSP00000387282:T500N;ENSP00000312059:T476N;ENSP00000387154:T455N;ENSP00000362775:T436N;ENSP00000387218:T476N	.|ENSP00000312059:T476N	L|T	+|+	1|2	0|0	AGFG1|AGFG1	228124967|228124967	1.000000|1.000000	0.71417|0.71417	0.061000|0.061000	0.19648|0.19648	0.894000|0.894000	0.52154|0.52154	5.696000|5.696000	0.68287|0.68287	2.587000|2.587000	0.87381|0.87381	0.467000|0.467000	0.42956|0.42956	CTC|ACT		0.507	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		5	110	1	0	0.217242	1	0.218251	5	110				
SNAPC1	6617	broad.mit.edu	37	14	62249055	62249055	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:62249055A>G	ENST00000216294.4	+	8	1020	c.916A>G	c.(916-918)Aaa>Gaa	p.K306E		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	306					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGCAACTAGGAAAAAAGAGAA	0.388																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.(916-918)Aaa>Gaa		small nuclear RNA activating complex, polypeptide 1, 43kDa							86.0	85.0	86.0					14																	62249055		2203	4300	6503	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62249055A>G	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.916A>G	14.37:g.62249055A>G	ENSP00000216294:p.Lys306Glu						p.K306E	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	8	1020	+			306						Missense_Mutation	SNP	ENST00000216294.4	37	c.916A>G	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	A	8.813	0.935756	0.18206	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.95	1.11	0.20524	.	0.843251	0.11319	N	0.576261	T	0.37571	0.1008	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26189	-1.0110	9	0.33141	T	0.24	-3.3609	9.3684	0.38239	0.7349:0.0:0.2651:0.0	.	306	Q16533	SNPC1_HUMAN	E	306	.	ENSP00000216294:K306E	K	+	1	0	SNAPC1	61318808	0.118000	0.22208	0.317000	0.25265	0.597000	0.36814	0.290000	0.18975	0.166000	0.19597	0.533000	0.62120	AAA		0.388	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		16	26	0	0	0	1	0	16	26				
UHRF1BP1L	23074	broad.mit.edu	37	12	100453042	100453042	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100453042A>C	ENST00000279907.7	-	14	2225	c.2013T>G	c.(2011-2013)atT>atG	p.I671M	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I321M	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	671										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTCCTTTATAAATTTCATGCA	0.338																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2011-2013)atT>atG		UHRF1 binding protein 1-like							63.0	73.0	69.0					12																	100453042		2203	4299	6502	SO:0001583	missense	23074							g.chr12:100453042A>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2013T>G	12.37:g.100453042A>C	ENSP00000279907:p.Ile671Met					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I321M	p.I671M	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2225	-			671					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2013T>G	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.331872	0.24167	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.10763	2.86;2.84	5.78	3.36	0.38483	.	0.263282	0.39020	N	0.001494	T	0.09862	0.0242	L	0.40543	1.245	0.80722	D	1	B	0.31054	0.306	B	0.34590	0.186	T	0.13683	-1.0500	10	0.72032	D	0.01	-10.8283	5.8726	0.18812	0.7066:0.14:0.1534:0.0	.	671	A0JNW5	UH1BL_HUMAN	M	671;321	ENSP00000279907:I671M;ENSP00000444824:I321M	ENSP00000279907:I671M	I	-	3	3	UHRF1BP1L	98977173	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.286000	0.33273	0.427000	0.26145	0.528000	0.53228	ATT		0.338	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		25	39	0	0	0	1	0	25	39				
LUZP2	338645	broad.mit.edu	37	11	25004777	25004777	+	Missense_Mutation	SNP	C	C	T	rs543569589		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:25004777C>T	ENST00000336930.6	+	9	769	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	LUZP2_ENST00000533227.1_Missense_Mutation_p.R149W			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	235						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAATCCAACTCGGATGTTACT	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17911	0.0		0.0	False		,,,				2504	0.0					ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(445-447)Cgg>Tgg		leucine zipper protein 2							160.0	137.0	145.0					11																	25004777		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:25004777C>T	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.703C>T	11.37:g.25004777C>T	ENSP00000336817:p.Arg235Trp					LUZP2_ENST00000336930.6_Missense_Mutation_p.R235W	p.R149W	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN			9	732	+			235					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.445C>T	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442109	0.43326	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.25414	1.8;1.8	5.42	4.44	0.53790	.	0.407977	0.24532	N	0.037713	T	0.14056	0.0340	N	0.08118	0	0.20703	N	0.999869	P;P	0.36712	0.566;0.566	B;B	0.36186	0.219;0.126	T	0.16482	-1.0401	10	0.66056	D	0.02	-0.8839	11.7249	0.51704	0.0:0.6913:0.3087:0.0	.	149;235	E9PN53;Q86TE4	.;LUZP2_HUMAN	W	235;149	ENSP00000336817:R235W;ENSP00000432952:R149W	ENSP00000336817:R235W	R	+	1	2	LUZP2	24961353	1.000000	0.71417	0.578000	0.28575	0.266000	0.26442	4.243000	0.58721	2.705000	0.92388	0.650000	0.86243	CGG		0.453	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		24	57	0	0	0	1	0	24	57				
HERC1	8925	broad.mit.edu	37	15	63970231	63970231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:63970231G>A	ENST00000443617.2	-	37	6970	c.6883C>T	c.(6883-6885)Cag>Tag	p.Q2295*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2295					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTCCTCAGCTGCAGCTCTGAG	0.512																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6883-6885)Cag>Tag		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							139.0	147.0	144.0					15																	63970231		2093	4204	6297	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970231G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6883C>T	15.37:g.63970231G>A	ENSP00000390158:p.Gln2295*					RP11-317G6.1_ENST00000559303.2_RNA	p.Q2295*	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			37	6970	-			2295					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.6883C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	49	15.016106	0.99819	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.6	5.6	0.85130	.	0.228380	0.37304	N	0.002158	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.605	0.95577	0.0:0.0:1.0:0.0	.	.	.	.	X	2295	.	ENSP00000390158:Q2295X	Q	-	1	0	HERC1	61757284	1.000000	0.71417	0.960000	0.40013	0.976000	0.68499	4.427000	0.59888	2.635000	0.89317	0.655000	0.94253	CAG		0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		39	59	0	0	0	1	0	39	59				
GLI1	2735	broad.mit.edu	37	12	57865362	57865362	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57865362A>G	ENST00000228682.2	+	12	2930	c.2839A>G	c.(2839-2841)Aca>Gca	p.T947A	GLI1_ENST00000546141.1_Missense_Mutation_p.T906A|GLI1_ENST00000543426.1_Missense_Mutation_p.T819A	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	947					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCAGTGAACACATATGGACC	0.547																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2839-2841)Aca>Gca		GLI family zinc finger 1							58.0	61.0	60.0					12																	57865362		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57865362A>G		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2839A>G	12.37:g.57865362A>G	ENSP00000228682:p.Thr947Ala					GLI1_ENST00000543426.1_Missense_Mutation_p.T819A|GLI1_ENST00000546141.1_Missense_Mutation_p.T906A	p.T947A	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2930	+			947					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.2839A>G	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	A	1.075	-0.668768	0.03403	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.11930	2.84;2.73;2.81;2.81	4.53	0.9	0.19278	.	0.325015	0.22539	N	0.058750	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44065	-0.9352	10	0.08599	T	0.76	.	6.799	0.23740	0.7035:0.0:0.2965:0.0	.	947	P08151	GLI1_HUMAN	A	819;947;906;906;415	ENSP00000437607:T819A;ENSP00000228682:T947A;ENSP00000441006:T906A;ENSP00000434408:T906A	ENSP00000228682:T947A	T	+	1	0	GLI1	56151629	0.000000	0.05858	0.005000	0.12908	0.468000	0.32798	0.177000	0.16801	0.062000	0.16340	0.454000	0.30748	ACA		0.547	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		32	59	0	0	0	1	0	32	59				
ZNF676	163223	broad.mit.edu	37	19	22364261	22364261	+	Silent	SNP	G	G	T	rs371737966		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22364261G>T	ENST00000397121.2	-	3	575	c.258C>A	c.(256-258)acC>acA	p.T86T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATCCACATTGGTACAACTAA	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		17025	0.0		0.0	False		,,,				2504	0.001					ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(256-258)acC>acA		zinc finger protein 676		G		0,3902		0,0,1951	112.0	103.0	106.0		258	0.1	0.1	19		106	1,8323		0,1,4161	no	coding-synonymous	ZNF676	NM_001001411.2		0,1,6112	TT,TG,GG		0.012,0.0,0.0082		86/589	22364261	1,12225	1951	4162	6113	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364261G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.258C>A	19.37:g.22364261G>T							p.T86T	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	575	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	86					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.258C>A	CCDS42539.1																																																																																				0.333	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		24	52	1	0	1.64293e-13	1	2.10822e-13	24	52				
OR10P1	121130	broad.mit.edu	37	12	56031269	56031269	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56031269C>A	ENST00000309675.2	+	1	626	c.594C>A	c.(592-594)atC>atA	p.I198I	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGAGCGAGATCTCCGTGATGA	0.537																																						ENST00000309675.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(592-594)atC>atA		olfactory receptor, family 10, subfamily P, member 1							123.0	97.0	106.0					12																	56031269		2203	4300	6503	SO:0001819	synonymous_variant	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031269C>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.594C>A	12.37:g.56031269C>A							p.I198I	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	626	+			198					B9EGY4	Silent	SNP	ENST00000309675.2	37	c.594C>A	CCDS31828.1																																																																																				0.537	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			52	79	1	0	1.07234e-20	1	1.47176e-20	52	79				
SSBP3	23648	broad.mit.edu	37	1	54717490	54717490	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:54717490G>T	ENST00000371320.3	-	8	961	c.551C>A	c.(550-552)tCt>tAt	p.S184Y	SSBP3_ENST00000417664.2_Missense_Mutation_p.S74Y|SSBP3_ENST00000357475.4_Missense_Mutation_p.S164Y|SSBP3_ENST00000371319.3_Missense_Mutation_p.S157Y|SSBP3_ENST00000326956.7_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	184	Gly-rich.|Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						GGGATCCATAGAATTGGGCAG	0.622																																						ENST00000371320.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(550-552)tCt>tAt		single stranded DNA binding protein 3							55.0	46.0	49.0					1																	54717490		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54717490G>T		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.551C>A	1.37:g.54717490G>T	ENSP00000360371:p.Ser184Tyr					SSBP3_ENST00000417664.2_Missense_Mutation_p.S74Y|SSBP3_ENST00000371319.3_Missense_Mutation_p.S157Y|SSBP3_ENST00000357475.4_Missense_Mutation_p.S164Y|SSBP3_ENST00000326956.7_5'UTR	p.S184Y	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN			8	961	-			184			Gly-rich.|Pro-rich.		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.551C>A	CCDS591.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726118	0.69074	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	4.68	4.68	0.58851	.	0.235860	0.29100	U	0.013157	T	0.68732	0.3033	L	0.61218	1.895	0.46954	D	0.999266	P;B;P	0.40794	0.729;0.288;0.603	P;B;P	0.46389	0.452;0.308;0.515	T	0.72626	-0.4236	9	0.59425	D	0.04	-0.7543	18.1462	0.89656	0.0:0.0:1.0:0.0	.	157;164;184	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	Y	74;184;157;164;15;47	.	ENSP00000350067:S164Y	S	-	2	0	SSBP3	54490078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.536000	0.60636	2.581000	0.87130	0.655000	0.94253	TCT		0.622	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		7	25	1	0	0.0293803	1	0.0299069	7	25				
RC3H1	149041	broad.mit.edu	37	1	173962048	173962048	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173962048G>A	ENST00000367696.2	-	2	427	c.76C>T	c.(76-78)Cga>Tga	p.R26*	RC3H1_ENST00000258349.4_Nonsense_Mutation_p.R26*|RC3H1_ENST00000367694.2_Nonsense_Mutation_p.R26*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	26					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATGGGCTTTCGAATTGTTTCG	0.473																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(76-78)Cga>Tga		ring finger and CCCH-type domains 1							138.0	127.0	130.0					1																	173962048		2203	4300	6503	SO:0001587	stop_gained	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173962048G>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.76C>T	1.37:g.173962048G>A	ENSP00000356669:p.Arg26*					RC3H1_ENST00000367694.2_Nonsense_Mutation_p.R26*|RC3H1_ENST00000258349.4_Nonsense_Mutation_p.R26*	p.R26*			Q5TC82	RC3H1_HUMAN			2	427	-			26					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Nonsense_Mutation	SNP	ENST00000367696.2	37	c.76C>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	38	6.779690	0.97833	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	.	.	.	5.78	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3241	16.2237	0.82280	0.0:0.0:0.866:0.134	.	.	.	.	X	26	.	ENSP00000258349:R26X	R	-	1	2	RC3H1	172228671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.296000	0.72751	1.447000	0.47661	0.655000	0.94253	CGA		0.473	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		6	77	0	0	0	1	0	6	77				
FRMPD1	22844	broad.mit.edu	37	9	37745053	37745053	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37745053T>C	ENST00000539465.1	+	16	3617	c.3024T>C	c.(3022-3024)caT>caC	p.H1008H	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.H1008H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1008						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCATAGAGCATGGAGACAGCT	0.532																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3022-3024)caT>caC		FERM and PDZ domain containing 1							95.0	96.0	96.0					9																	37745053		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745053T>C	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3024T>C	9.37:g.37745053T>C						FRMPD1_ENST00000377765.3_Silent_p.H1008H|RP11-613M10.9_ENST00000540557.1_Intron	p.H1008H			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3617	+			1008					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.3024T>C	CCDS6612.1																																																																																				0.532	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		29	130	0	0	0	1	0	29	130				
VWA8	23078	broad.mit.edu	37	13	42361621	42361621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:42361621C>A	ENST00000379310.3	-	18	2190	c.2122G>T	c.(2122-2124)Gaa>Taa	p.E708*	VWA8_ENST00000281496.6_Nonsense_Mutation_p.E708*	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	708						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GTATTTATTTCTATTGTAGCA	0.353																																						ENST00000379310.3																			0											c.(2122-2124)Gaa>Taa		von Willebrand factor A domain containing 8							70.0	74.0	73.0					13																	42361621		2203	4299	6502	SO:0001587	stop_gained	23078							g.chr13:42361621C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2122G>T	13.37:g.42361621C>A	ENSP00000368612:p.Glu708*					VWA8_ENST00000281496.6_Nonsense_Mutation_p.E708*	p.E708*	NM_015058.1	NP_055873.1					18	2190	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	ENST00000379310.3	37	c.2122G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	39	7.776612	0.98483	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	.	.	.	5.13	5.13	0.70059	.	0.244160	0.41194	D	0.000937	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	17.7196	0.88347	0.0:1.0:0.0:0.0	.	.	.	.	X	612;708;708	.	ENSP00000251030:E612X	E	-	1	0	KIAA0564	41259621	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.705000	0.47127	2.551000	0.86045	0.655000	0.94253	GAA		0.353	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		10	20	1	0	7.03913e-09	1	8.36985e-09	10	20				
SSX1	6756	broad.mit.edu	37	X	48125776	48125776	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48125776T>G	ENST00000376919.3	+	7	657	c.521T>G	c.(520-522)cTg>cGg	p.L174R		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGAAAGCAGCTGGTGATTTAT	0.502			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"""synovial sarcoma, X breakpoint 1"""			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(520-522)cTg>cGg		synovial sarcoma, X breakpoint 1							306.0	290.0	296.0					X																	48125776		1511	2706	4217	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48125776T>G	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.521T>G	X.37:g.48125776T>G	ENSP00000366118:p.Leu174Arg						p.L174R	NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN			7	657	+			174					A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.521T>G	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	10.38	1.334428	0.24253	.	.	ENSG00000126752	ENST00000376919	T	0.06218	3.33	2.39	-4.79	0.03200	SSXRD motif (1);	3.620120	0.00760	N	0.001127	T	0.04497	0.0123	N	0.16368	0.405	0.09310	N	1	P	0.46457	0.878	P	0.49752	0.621	T	0.40869	-0.9540	10	0.06494	T	0.89	.	0.3837	0.00399	0.2033:0.2928:0.2047:0.2992	.	174	Q16384	SSX1_HUMAN	R	174	ENSP00000366118:L174R	ENSP00000366118:L174R	L	+	2	0	SSX1	48010720	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.108000	0.00601	-1.147000	0.02851	-0.976000	0.02587	CTG		0.502	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		11	363	0	0	0	1	0	11	363				
USP7	7874	broad.mit.edu	37	16	8989562	8989562	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:8989562A>C	ENST00000344836.4	-	27	3054	c.2856T>G	c.(2854-2856)gtT>gtG	p.V952V	USP7_ENST00000535863.1_Silent_p.V853V|USP7_ENST00000381886.4_Silent_p.V936V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	952					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTCTTGATGAACACCAATGA	0.363																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2854-2856)gtT>gtG		ubiquitin specific peptidase 7 (herpes virus-associated)							64.0	62.0	63.0					16																	8989562		2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8989562A>C	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2856T>G	16.37:g.8989562A>C						USP7_ENST00000535863.1_Silent_p.V853V|USP7_ENST00000381886.4_Silent_p.V936V	p.V952V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			27	3054	-			952					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.2856T>G	CCDS32385.1																																																																																				0.363	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			7	22	0	0	0	1	0	7	22				
PARP2	10038	broad.mit.edu	37	14	20825862	20825862	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20825862C>G	ENST00000250416.5	+	16	1685	c.1658C>G	c.(1657-1659)aCc>aGc	p.T553S	PARP2_ENST00000429687.3_Missense_Mutation_p.T540S|PARP2_ENST00000527915.1_3'UTR	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	553	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GATGGTTATACCCTCAACTAC	0.413								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000250416.5																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1657-1659)aCc>aGc	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							116.0	110.0	112.0					14																	20825862		1879	4122	6001	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20825862C>G	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1658C>G	14.37:g.20825862C>G	ENSP00000250416:p.Thr553Ser					PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.T540S	p.T553S	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	16	1685	+	all_cancers(95;0.00092)	all_lung(585;0.235)	553			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1658C>G	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559314	0.27827	.	.	ENSG00000129484	ENST00000429687;ENST00000250416	T;T	0.04156	3.7;3.69	5.65	4.75	0.60458	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.204024	0.42420	D	0.000701	T	0.02455	0.0075	N	0.03999	-0.3	0.80722	D	1	B;B	0.22276	0.012;0.067	B;B	0.20577	0.004;0.03	T	0.32402	-0.9908	10	0.02654	T	1	-16.6007	14.8773	0.70504	0.1449:0.8551:0.0:0.0	.	540;553	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	S	540;553	ENSP00000392972:T540S;ENSP00000250416:T553S	ENSP00000250416:T553S	T	+	2	0	PARP2	19895702	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.865000	0.62998	1.590000	0.49995	0.655000	0.94253	ACC		0.413	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			17	54	0	0	0	1	0	17	54				
TRHR	7201	broad.mit.edu	37	8	110099941	110099941	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110099941T>C	ENST00000518632.1	+	2	551	c.200T>C	c.(199-201)cTg>cCg	p.L67P	TRHR_ENST00000311762.2_Missense_Mutation_p.L67P			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	67					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTGGTGAGCCTGGCAGTAGCT	0.527																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(199-201)cTg>cCg		thyrotropin-releasing hormone receptor							149.0	135.0	140.0					8																	110099941		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110099941T>C		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.200T>C	8.37:g.110099941T>C	ENSP00000430711:p.Leu67Pro					TRHR_ENST00000311762.2_Missense_Mutation_p.L67P	p.L67P			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	551	+			67					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.200T>C	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961306	0.74016	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	D;D	0.91521	-2.86;-2.86	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	H	0.99675	4.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	-26.0664	15.4167	0.74974	0.0:0.0:0.0:1.0	.	67	P34981	TRFR_HUMAN	P	67	ENSP00000430711:L67P;ENSP00000309818:L67P	ENSP00000309818:L67P	L	+	2	0	TRHR	110169117	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.033000	0.88852	2.238000	0.73509	0.533000	0.62120	CTG		0.527	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			27	63	0	0	0	1	0	27	63				
CYLC1	1538	broad.mit.edu	37	X	83127903	83127903	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:83127903A>C	ENST00000329312.4	+	4	224	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	63					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAGACATGACAAAAGAAAACT	0.318																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(187-189)Aaa>Caa		cylicin, basic protein of sperm head cytoskeleton 1							19.0	19.0	19.0					X																	83127903		2192	4284	6476	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83127903A>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.187A>C	X.37:g.83127903A>C	ENSP00000331556:p.Lys63Gln						p.K63Q	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	224	+			63					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.187A>C	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	0.146	-1.096364	0.01843	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.50001	0.76	4.58	-0.965	0.10323	.	.	.	.	.	T	0.35068	0.0919	L	0.46157	1.445	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.16289	0.015;0.015	T	0.25779	-1.0122	9	0.39692	T	0.17	-1.4869	4.8625	0.13590	0.5134:0.2963:0.1903:0.0	.	63;63	P35663;F5H4V5	CYLC1_HUMAN;.	Q	63	ENSP00000331556:K63Q	ENSP00000331556:K63Q	K	+	1	0	CYLC1	83014559	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.051000	0.14141	-0.345000	0.08325	-2.515000	0.00186	AAA		0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		5	15	0	0	0	1	0	5	15				
ZNF724P	440519	broad.mit.edu	37	19	23405890	23405890	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23405890C>A	ENST00000418100.1	-	4	1274	c.1157G>T	c.(1156-1158)aGa>aTa	p.R386I				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	386					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(1)|lung(2)|ovary(2)	8						AGTATGAATTCTCTTATGTTG	0.388																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(1156-1158)aGa>aTa																																						SO:0001583	missense	0							g.chr19:23405890C>A			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1157G>T	19.37:g.23405890C>A	ENSP00000413411:p.Arg386Ile						p.R386I							4	1274	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.1157G>T		.	.	.	.	.	.	.	.	.	.	C	6.371	0.436509	0.12104	.	.	ENSG00000196081	ENST00000418100	T	0.02446	4.29	1.09	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	.	.	.	0.40343	D	0.979054	B	0.26547	0.152	B	0.11329	0.006	T	0.53143	-0.8480	8	0.36615	T	0.2	.	8.9884	0.36008	0.0:1.0:0.0:0.0	.	386	A8MTY0	ZN724_HUMAN	I	386	ENSP00000413411:R386I	ENSP00000413411:R386I	R	-	2	0	ZNF724P	23197730	0.000000	0.05858	0.202000	0.23494	0.172000	0.22775	0.142000	0.16096	0.488000	0.27723	0.491000	0.48974	AGA		0.388	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			17	22	1	0	1.15088e-07	1	1.32965e-07	17	22				
NELL1	4745	broad.mit.edu	37	11	20940848	20940848	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20940848T>C	ENST00000357134.5	+	7	879	c.727T>C	c.(727-729)Tta>Cta	p.L243L	NELL1_ENST00000298925.5_Silent_p.L271L|NELL1_ENST00000325319.5_Silent_p.L186L|NELL1_ENST00000532434.1_Silent_p.L243L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	243					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AATAATGGATTTACAAGAGCT	0.323																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(811-813)Tta>Cta		NEL-like 1 (chicken)							121.0	119.0	120.0					11																	20940848		2203	4299	6502	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20940848T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.727T>C	11.37:g.20940848T>C						NELL1_ENST00000532434.1_Silent_p.L243L|NELL1_ENST00000357134.5_Silent_p.L243L|NELL1_ENST00000325319.5_Silent_p.L186L	p.L271L			Q92832	NELL1_HUMAN			8	964	+			243			VWFC 1.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.811T>C	CCDS7855.1																																																																																				0.323	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		12	41	0	0	0	1	0	12	41				
MAP1B	4131	broad.mit.edu	37	5	71494405	71494405	+	Silent	SNP	C	C	T	rs550175931		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71494405C>T	ENST00000296755.7	+	5	5521	c.5223C>T	c.(5221-5223)atC>atT	p.I1741I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1741					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTCTCAGATCGCTTCTCCTC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		20609	0.0		0.0	False		,,,				2504	0.001				Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5221-5223)atC>atT		microtubule-associated protein 1B							151.0	158.0	156.0					5																	71494405		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494405C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5223C>T	5.37:g.71494405C>T							p.I1741I	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5521	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1741					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.5223C>T	CCDS4012.1																																																																																				0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		50	80	0	0	0	1	0	50	80				
NUBPL	80224	broad.mit.edu	37	14	32315743	32315743	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32315743T>G	ENST00000281081.7	+	9	805	c.760T>G	c.(760-762)Ttt>Gtt	p.F254V	NUBPL_ENST00000536705.1_Missense_Mutation_p.F158V|NUBPL_ENST00000418681.2_3'UTR	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	254					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AACTCATATTTTTGGTGCTGA	0.383																																						ENST00000281081.7																			0				endometrium(1)|lung(2)|prostate(1)|skin(1)	5						c.(760-762)Ttt>Gtt		nucleotide binding protein-like							100.0	94.0	96.0					14																	32315743		1862	4112	5974	SO:0001583	missense	80224				mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	g.chr14:32315743T>G	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.760T>G	14.37:g.32315743T>G	ENSP00000281081:p.Phe254Val					NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.F158V	p.F254V	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	9	805	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		254					B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	ENST00000281081.7	37	c.760T>G	CCDS41940.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361549	0.82353	.	.	ENSG00000151413	ENST00000550649;ENST00000281081;ENST00000536705	T;T;T	0.38560	1.13;1.13;1.13	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	H	0.99719	4.725	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	D	0.88634	0.3171	10	0.87932	D	0	0.3219	13.789	0.63128	0.0:0.0:0.0:1.0	.	158;254	B4DWB0;Q8TB37	.;NUBPL_HUMAN	V	120;254;158	ENSP00000447618:F120V;ENSP00000281081:F254V;ENSP00000439286:F158V	ENSP00000281081:F254V	F	+	1	0	NUBPL	31385494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.597000	0.74118	2.145000	0.66743	0.533000	0.62120	TTT		0.383	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1	NM_025152		9	12	0	0	0	1	0	9	12				
FAT4	79633	broad.mit.edu	37	4	126411468	126411468	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126411468G>T	ENST00000394329.3	+	17	13504	c.13491G>T	c.(13489-13491)gaG>gaT	p.E4497D	FAT4_ENST00000335110.5_Missense_Mutation_p.E2738D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4497					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCTGAAGAGATCTCTCTGC	0.607																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13489-13491)gaG>gaT		FAT atypical cadherin 4							80.0	79.0	80.0					4																	126411468		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411468G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13491G>T	4.37:g.126411468G>T	ENSP00000377862:p.Glu4497Asp					FAT4_ENST00000335110.5_Missense_Mutation_p.E2738D	p.E4497D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13504	+			4497					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13491G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195526	0.38806	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75938	-0.8;-0.98	5.17	5.17	0.71159	.	0.000000	0.34676	U	0.003761	T	0.62575	0.2439	L	0.39085	1.19	0.33306	D	0.565408	B;B;B	0.31817	0.341;0.231;0.341	B;B;B	0.30495	0.116;0.054;0.116	T	0.68534	-0.5383	10	0.25106	T	0.35	.	11.1826	0.48638	0.0838:0.0:0.9162:0.0	.	2738;4497;4496	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	D	4497;2738	ENSP00000377862:E4497D;ENSP00000335169:E2738D	ENSP00000335169:E2738D	E	+	3	2	FAT4	126630918	0.935000	0.31712	0.999000	0.59377	0.803000	0.45373	1.141000	0.31528	2.395000	0.81488	0.561000	0.74099	GAG		0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		47	74	1	0	8.86878e-18	1	1.19361e-17	47	74				
RHOBTB1	9886	broad.mit.edu	37	10	62670691	62670691	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:62670691C>T	ENST00000337910.5	-	4	587	c.250G>A	c.(250-252)Gat>Aat	p.D84N	RNU2-72P_ENST00000411175.1_RNA|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D84N	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	84	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CCAAAAGTATCCCAAAGCCTG	0.463																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(250-252)Gat>Aat		Rho-related BTB domain containing 1							158.0	125.0	136.0					10																	62670691		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62670691C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.250G>A	10.37:g.62670691C>T	ENSP00000338671:p.Asp84Asn					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D84N	p.D84N	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			4	587	-	Prostate(12;0.0112)		84			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.250G>A	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	36	5.827804	0.96996	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	D;D	0.90261	-2.64;-2.64	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.96965	0.9009	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97544	1.0088	10	0.87932	D	0	.	19.857	0.96762	0.0:1.0:0.0:0.0	.	84	O94844	RHBT1_HUMAN	N	84	ENSP00000350595:D84N;ENSP00000338671:D84N	ENSP00000338671:D84N	D	-	1	0	RHOBTB1	62340697	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.724000	0.84798	2.693000	0.91896	0.555000	0.69702	GAT		0.463	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			20	27	0	0	0	1	0	20	27				
DMBT1	1755	broad.mit.edu	37	10	124345687	124345687	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124345687A>C	ENST00000338354.3	+	16	1677	c.1571A>C	c.(1570-1572)gAc>gCc	p.D524A	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D524A|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D514A|DMBT1_ENST00000344338.3_Missense_Mutation_p.D514A|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	524	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACAGCTGGGACACCAATGAT	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(1570-1572)gAc>gCc		deleted in malignant brain tumors 1							297.0	229.0	251.0					10																	124345687		2063	4176	6239	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124345687A>C		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1571A>C	10.37:g.124345687A>C	ENSP00000342210:p.Asp524Ala					DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D524A|DMBT1_ENST00000344338.3_Missense_Mutation_p.D514A|DMBT1_ENST00000368955.3_Missense_Mutation_p.D514A|DMBT1_ENST00000330163.4_Intron	p.D524A			Q9UGM3	DMBT1_HUMAN			16	1677	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	524			SRCR 4.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.1571A>C		.	.	.	.	.	.	.	.	.	.	A	15.27	2.783898	0.49891	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	4.5	3.37	0.38596	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.64649	0.2617	M	0.94142	3.5	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.64506	0.878;0.878;0.926	T	0.72250	-0.4348	9	0.72032	D	0.01	.	9.3625	0.38203	0.9144:0.0:0.0856:0.0	.	524;514;524	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	A	524;524;524;524;524;524;514;524;514	ENSP00000342210:D524A;ENSP00000343175:D514A;ENSP00000357905:D524A;ENSP00000357951:D514A	ENSP00000342210:D524A	D	+	2	0	DMBT1	124335677	0.994000	0.37717	0.984000	0.44739	0.711000	0.40976	3.287000	0.51732	1.680000	0.50976	0.374000	0.22700	GAC		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		156	558	0	0	0	1	0	156	558				
PCDHGB3	56102	broad.mit.edu	37	5	140750455	140750455	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140750455A>C	ENST00000576222.1	+	1	625	c.494A>C	c.(493-495)aAt>aCt	p.N165T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	165	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGTGTCAATTCGCTGCAG	0.498																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(493-495)aAt>aCt									214.0	211.0	212.0					5																	140750455		2042	4189	6231	SO:0001583	missense	0							g.chr5:140750455A>C	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.494A>C	5.37:g.140750455A>C	ENSP00000461862:p.Asn165Thr					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.N165T	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	625	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.494A>C	CCDS58980.1																																																																																				0.498	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		81	166	0	0	0	1	0	81	166				
KIF1A	547	broad.mit.edu	37	2	241660374	241660374	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241660374A>G	ENST00000320389.7	-	43	4680	c.4522T>C	c.(4522-4524)Tgc>Cgc	p.C1508R	KIF1A_ENST00000498729.2_Missense_Mutation_p.C1609R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1508					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGAGAGGGGCAAGTGGAGGAG	0.647																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(4825-4827)Tgc>Cgc		kinesin family member 1A							19.0	23.0	22.0					2																	241660374		2027	4180	6207	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241660374A>G	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4522T>C	2.37:g.241660374A>G	ENSP00000322791:p.Cys1508Arg					KIF1A_ENST00000320389.7_Missense_Mutation_p.C1508R	p.C1609R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	45	5071	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1508			PH.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.4825T>C	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771532	0.69992	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.73047	-0.65;-0.71	4.02	4.02	0.46733	.	0.000000	0.85682	U	0.000000	T	0.78104	0.4231	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.986;0.998	T	0.78059	-0.2352	10	0.46703	T	0.11	.	12.6426	0.56718	1.0:0.0:0.0:0.0	.	1609;1508	F5H045;Q12756	.;KIF1A_HUMAN	R	1508;1609;1617	ENSP00000322791:C1508R;ENSP00000438388:C1609R	ENSP00000322791:C1508R	C	-	1	0	KIF1A	241309047	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.879000	0.75572	1.470000	0.48102	0.533000	0.62120	TGC		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		9	11	0	0	0	1	0	9	11				
CACNA1S	779	broad.mit.edu	37	1	201046078	201046078	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201046078G>A	ENST00000362061.3	-	12	2023	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N	CACNA1S_ENST00000367338.3_Silent_p.N599N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	599					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGGGGAAAGTTGTCAAAGT	0.532																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1795-1797)aaC>aaT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						194.0	166.0	175.0					1																	201046078		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046078G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1797C>T	1.37:g.201046078G>A						CACNA1S_ENST00000367338.3_Silent_p.N599N	p.N599N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	2023	-			599					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1797C>T	CCDS1407.1																																																																																				0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		40	95	0	0	0	1	0	40	95				
VPS13B	157680	broad.mit.edu	37	8	100523395	100523395	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100523395A>G	ENST00000358544.2	+	29	4474	c.4363A>G	c.(4363-4365)Aaa>Gaa	p.K1455E	VPS13B_ENST00000357162.2_Missense_Mutation_p.K1430E|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1455					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GACATACACAAAAGCTGTAAC	0.378																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4363-4365)Aaa>Gaa		vacuolar protein sorting 13 homolog B (yeast)							104.0	106.0	106.0					8																	100523395		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523395A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4363A>G	8.37:g.100523395A>G	ENSP00000351346:p.Lys1455Glu					VPS13B_ENST00000357162.2_Missense_Mutation_p.K1430E|VPS13B_ENST00000395996.1_3'UTR	p.K1455E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4474	+	Breast(36;3.73e-07)		1455					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4363A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.393202	0.83011	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.48201	0.82;0.82	5.36	5.36	0.76844	.	0.055184	0.64402	D	0.000001	T	0.51839	0.1698	L	0.36672	1.1	0.80722	D	1	P;D;P	0.54601	0.954;0.967;0.702	P;P;B	0.53035	0.651;0.716;0.217	T	0.55341	-0.8156	10	0.66056	D	0.02	.	15.6332	0.76929	1.0:0.0:0.0:0.0	.	1454;1430;1455	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	E	1430;1455	ENSP00000349685:K1430E;ENSP00000351346:K1455E	ENSP00000349685:K1430E	K	+	1	0	VPS13B	100592571	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.647000	0.74354	2.155000	0.67459	0.477000	0.44152	AAA		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		22	42	0	0	0	1	0	22	42				
USPL1	10208	broad.mit.edu	37	13	31231670	31231670	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31231670G>T	ENST00000255304.4	+	9	1798	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	486	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAAGAAATTTGAAGTTCCTGC	0.373																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(1456-1458)Gaa>Taa		ubiquitin specific peptidase like 1							85.0	83.0	84.0					13																	31231670		2203	4300	6503	SO:0001587	stop_gained	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31231670G>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1456G>T	13.37:g.31231670G>T	ENSP00000255304:p.Glu486*						p.E486*	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	1798	+		Lung SC(185;0.0257)|Breast(139;0.203)	486					Q14109|Q6AI45|Q8IY30|Q8IYE8	Nonsense_Mutation	SNP	ENST00000255304.4	37	c.1456G>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	40	8.485548	0.98832	.	.	ENSG00000132952	ENST00000255304	.	.	.	5.55	4.7	0.59300	.	0.273018	0.41500	D	0.000871	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-14.8753	10.7882	0.46417	0.0712:0.1405:0.7882:0.0	.	.	.	.	X	486	.	ENSP00000255304:E486X	E	+	1	0	USPL1	30129670	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.694000	0.47035	1.327000	0.45338	0.561000	0.74099	GAA		0.373	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		20	41	1	0	0.0438628	1	0.0445521	20	41				
KCNJ12	3768	broad.mit.edu	37	17	21319491	21319491	+	Silent	SNP	G	G	A	rs111560549	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:21319491G>A	ENST00000583088.1	+	3	1732	c.837G>A	c.(835-837)ccG>ccA	p.P279P	KCNJ12_ENST00000331718.5_Silent_p.P279P	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	279					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AGGCCAGCCCGCTCTTCGGCA	0.607										Prostate(3;0.18)			.|||	3	0.000599042	0.0023	0.0	5008	,	,		38505	0.0		0.0	False		,,,				2504	0.0					ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(835-837)ccG>ccA		potassium inwardly-rectifying channel, subfamily J, member 12		G		2,4404	4.2+/-10.8	0,2,2201	101.0	84.0	90.0		837	-4.3	0.9	17	dbSNP_132	90	0,8600		0,0,4300	no	coding-synonymous	KCNJ12	NM_021012.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		279/434	21319491	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3768							g.chr17:21319491G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.837G>A	17.37:g.21319491G>A		Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Silent_p.P279P	p.P279P	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1732	+								O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.837G>A	CCDS11219.1																																																																																				0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		24	91	0	0	0	1	0	24	91				
ECE2	9718	broad.mit.edu	37	3	183995240	183995240	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183995240T>C	ENST00000402825.3	+	4	818	c.818T>C	c.(817-819)cTg>cCg	p.L273P	ECE2_ENST00000357474.5_Missense_Mutation_p.L201P|ECE2_ENST00000404464.3_Missense_Mutation_p.L155P|ECE2_ENST00000359140.4_Missense_Mutation_p.L126P|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	273	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCATACTGAAGCACCTG	0.602																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(817-819)cTg>cCg		endothelin converting enzyme 2							40.0	37.0	38.0					3																	183995240		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183995240T>C	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.818T>C	3.37:g.183995240T>C	ENSP00000384223:p.Leu273Pro					ECE2_ENST00000404464.3_Missense_Mutation_p.L155P|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.L126P|ECE2_ENST00000357474.5_Missense_Mutation_p.L201P	p.L273P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	818	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		273			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.818T>C	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685440	0.68157	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.97	5.97	0.96955	Peptidase M13 (1);	0.134868	0.51477	D	0.000100	D	0.90758	0.7099	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;0.999;1.0;0.996;0.984;0.993	D;D;D;D;P;D	0.79108	0.956;0.992;0.979;0.945;0.894;0.956	D	0.92200	0.5767	10	0.87932	D	0	-17.6148	15.2744	0.73732	0.0:0.0:0.0:1.0	.	126;201;155;201;126;273	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	P	273;126;155;201;147	ENSP00000384223:L273P;ENSP00000352052:L126P;ENSP00000385846:L155P;ENSP00000350066:L201P;ENSP00000398444:L147P	ENSP00000350066:L201P	L	+	2	0	ECE2	185477934	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	8.008000	0.88588	2.288000	0.76882	0.533000	0.62120	CTG		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		20	33	0	0	0	1	0	20	33				
EML3	256364	broad.mit.edu	37	11	62374545	62374545	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62374545A>C	ENST00000394773.2	-	12	1696	c.1389T>G	c.(1387-1389)ccT>ccG	p.P463P	EML3_ENST00000278845.4_Silent_p.P464P|EML3_ENST00000529309.1_Silent_p.P463P|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Silent_p.P435P|EML3_ENST00000531557.1_Silent_p.P246P	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	463						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACACAAAGCAAGGGATAAACT	0.527																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1387-1389)ccT>ccG		echinoderm microtubule associated protein like 3							81.0	85.0	84.0					11																	62374545		2202	4299	6501	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62374545A>C	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1389T>G	11.37:g.62374545A>C						EML3_ENST00000278845.4_Silent_p.P464P|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Silent_p.P246P|EML3_ENST00000494176.2_Silent_p.P435P|EML3_ENST00000529309.1_Silent_p.P463P	p.P463P	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			12	1696	-			463					Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.1389T>G	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	A	9.460	1.092887	0.20471	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.22	-2.05	0.07321	.	.	.	.	.	T	0.39436	0.1078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28618	-1.0038	4	.	.	.	-6.7036	1.7102	0.02891	0.2135:0.3016:0.3377:0.1473	.	.	.	.	V	458	.	.	L	-	1	2	EML3	62131121	0.987000	0.35691	0.993000	0.49108	0.797000	0.45037	0.345000	0.19979	-0.282000	0.09128	-0.522000	0.04353	TTG		0.527	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		25	58	0	0	0	1	0	25	58				
URB2	9816	broad.mit.edu	37	1	229771072	229771072	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:229771072G>T	ENST00000258243.2	+	4	848	c.712G>T	c.(712-714)Gag>Tag	p.E238*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	238						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GAGTCAGATTGAGGCCATGTT	0.602																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(712-714)Gag>Tag		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							63.0	65.0	65.0					1																	229771072		2203	4300	6503	SO:0001587	stop_gained	9816					nucleolus		g.chr1:229771072G>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.712G>T	1.37:g.229771072G>T	ENSP00000258243:p.Glu238*						p.E238*	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	848	+			238					Q5VYC9	Nonsense_Mutation	SNP	ENST00000258243.2	37	c.712G>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317773	0.81469	.	.	ENSG00000135763	ENST00000258243	.	.	.	5.39	5.39	0.77823	.	0.156483	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.8339	19.5286	0.95215	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	.	E	+	1	0	URB2	227837695	1.000000	0.71417	0.897000	0.35233	0.010000	0.07245	7.532000	0.81985	2.700000	0.92200	0.650000	0.86243	GAG		0.602	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		4	84	1	0	0.00909568	1	0.00935351	4	84				
MRPL44	65080	broad.mit.edu	37	2	224822309	224822309	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:224822309C>A	ENST00000258383.3	+	1	189	c.120C>A	c.(118-120)cgC>cgA	p.R40R		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	40					mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCGCCTTCCGCTTCCAGAAGG	0.692																																						ENST00000258383.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(118-120)cgC>cgA		mitochondrial ribosomal protein L44							22.0	25.0	24.0					2																	224822309		2203	4300	6503	SO:0001819	synonymous_variant	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224822309C>A	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.120C>A	2.37:g.224822309C>A							p.R40R	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	189	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	40					Q53S16|Q6IA62|Q9H821	Silent	SNP	ENST00000258383.3	37	c.120C>A	CCDS2459.1																																																																																				0.692	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		10	35	1	0	2.17888e-05	1	2.39107e-05	10	35				
SAMD8	142891	broad.mit.edu	37	10	76868869	76868869	+	5'Flank	SNP	G	G	A	rs377547251		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:76868869G>A	ENST00000542569.1	+	0	0				DUSP13_ENST00000372700.3_Missense_Mutation_p.T16M|SAMD8_ENST00000372690.3_5'Flank|DUSP13_ENST00000607131.1_De_novo_Start_OutOfFrame|DUSP13_ENST00000491677.2_De_novo_Start_OutOfFrame|SAMD8_ENST00000372687.4_5'Flank|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372702.3_Missense_Mutation_p.T16M	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGGGCAAGGCGTGGCTTTGTC	0.627																																						ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8								dual specificity phosphatase 13		G	MET/THR,MET/THR,	0,4406		0,0,2203	60.0	54.0	56.0		47,47,	4.0	0.0	10		56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-5	DUSP13	NM_001007271.1,NM_001007272.1,NM_001007273.1	81,81,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	16/189,16/249,	76868869	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76868869G>A	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515		10.37:g.76868869G>A	Exception_encountered					DUSP13_ENST00000607131.1_De_novo_Start_OutOfFrame|DUSP13_ENST00000372702.3_Missense_Mutation_p.T16M|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.T16M		NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			0	101	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)							Q5JSC5|Q5JSC8|Q66K52	Translation_Start_Site	SNP	ENST00000542569.1	37		CCDS53543.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211339	0.39102	0.0	1.16E-4	ENSG00000079393	ENST00000372702;ENST00000372700	T;T	0.05319	3.88;3.46	5.91	3.97	0.46021	.	.	.	.	.	T	0.07369	0.0186	L	0.36672	1.1	0.23704	N	0.997066	D;P	0.56287	0.975;0.698	P;B	0.44561	0.453;0.132	T	0.26467	-1.0102	9	0.72032	D	0.01	.	8.7849	0.34814	0.0807:0.1514:0.7679:0.0	.	16;16	Q9UII6-4;Q6B8I1	.;MDSP_HUMAN	M	16	ENSP00000361787:T16M;ENSP00000361785:T16M	ENSP00000361785:T16M	T	-	2	0	DUSP13	76538875	0.005000	0.15991	0.035000	0.18076	0.643000	0.38383	1.202000	0.32271	1.513000	0.48852	0.655000	0.94253	ACG		0.627	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		19	33	0	0	0	1	0	19	33				
EEA1	8411	broad.mit.edu	37	12	93169899	93169899	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93169899C>T	ENST00000322349.8	-	29	4388	c.4124G>A	c.(4123-4125)cGa>cAa	p.R1375Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1375					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCCACACTGTCGGCAGTGATG	0.358																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(4123-4125)cGa>cAa		early endosome antigen 1							69.0	64.0	65.0					12																	93169899		2202	4300	6502	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93169899C>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.4124G>A	12.37:g.93169899C>T	ENSP00000317955:p.Arg1375Gln						p.R1375Q	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			29	4388	-			1375					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.4124G>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156484	0.94686	.	.	ENSG00000102189	ENST00000322349	T	0.81078	-1.45	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	D	0.000031	D	0.94052	0.8094	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96032	0.9017	10	0.87932	D	0	.	19.3674	0.94469	0.0:1.0:0.0:0.0	.	1375	Q15075	EEA1_HUMAN	Q	1375	ENSP00000317955:R1375Q	ENSP00000317955:R1375Q	R	-	2	0	EEA1	91694030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.565000	0.86533	0.655000	0.94253	CGA		0.358	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		9	28	0	0	0	1	0	9	28				
CLCA1	1179	broad.mit.edu	37	1	86951095	86951095	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:86951095C>A	ENST00000234701.3	+	7	1156	c.805C>A	c.(805-807)Ctc>Atc	p.L269I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L269I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	269					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AAAATGCAATCTCCGAAGCAC	0.378																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(805-807)Ctc>Atc		chloride channel accessory 1							134.0	113.0	120.0					1																	86951095		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86951095C>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.805C>A	1.37:g.86951095C>A	ENSP00000234701:p.Leu269Ile					CLCA1_ENST00000394711.1_Missense_Mutation_p.L269I	p.L269I			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	7	1156	+		Lung NSC(277;0.239)	269					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.805C>A	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843538	0.32606	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.02944	4.1;4.1	5.93	5.01	0.66863	.	0.583336	0.16793	N	0.199293	T	0.01730	0.0055	M	0.69823	2.125	0.25951	N	0.982757	B;B	0.26845	0.161;0.097	B;B	0.32677	0.104;0.15	T	0.45702	-0.9243	10	0.23891	T	0.37	-5.8966	7.7474	0.28877	0.0:0.7298:0.0:0.2702	.	269;32	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	I	269	ENSP00000234701:L269I;ENSP00000378200:L269I	ENSP00000234701:L269I	L	+	1	0	CLCA1	86723683	0.993000	0.37304	1.000000	0.80357	0.965000	0.64279	3.200000	0.51051	1.493000	0.48517	0.655000	0.94253	CTC		0.378	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		30	51	1	0	5.45727e-16	1	7.22369e-16	30	51				
INTS8	55656	broad.mit.edu	37	8	95837290	95837290	+	Missense_Mutation	SNP	G	G	T	rs141032302	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95837290G>T	ENST00000523731.1	+	2	433	c.300G>T	c.(298-300)gaG>gaT	p.E100D	INTS8_ENST00000447247.1_Missense_Mutation_p.E100D	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	100					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACATATTAGAGAAAAGGTATC	0.318																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(298-300)gaG>gaT		integrator complex subunit 8							65.0	68.0	67.0					8																	95837290		2203	4299	6502	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95837290G>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.300G>T	8.37:g.95837290G>T	ENSP00000430338:p.Glu100Asp					INTS8_ENST00000447247.1_Missense_Mutation_p.E100D	p.E100D	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			2	433	+	Breast(36;1.05e-06)		100					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.300G>T	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.390710|3.390710	0.62066|0.62066	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000522171;ENST00000523808;ENST00000519457;ENST00000523731;ENST00000447247|ENST00000521860	.|.	.|.	.|.	4.96|4.96	2.21|2.21	0.28008|0.28008	.|.	0.049280|0.049280	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.60612|.	0.2282|.	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	D;B|.	0.71674|.	0.998;0.189|.	D;B|.	0.63877|.	0.919;0.131|.	T|.	0.60229|.	-0.7304|.	9|.	0.66056|0.72032	D|D	0.02|0.01	-12.0668|-12.0668	9.8989|9.8989	0.41335|0.41335	0.2868:0.0:0.7132:0.0|0.2868:0.0:0.7132:0.0	.|.	100;100|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	D|X	59;164;100;100;100|88	.|.	ENSP00000343274:E100D|ENSP00000430049:E88X	E|E	+|+	3|1	2|0	INTS8|INTS8	95906466|95906466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	2.409000|2.409000	0.44583|0.44583	0.286000|0.286000	0.22352|0.22352	-0.251000|-0.251000	0.11542|0.11542	GAG|GAA		0.318	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		13	30	1	0	0.000151284	1	0.00016287	13	30				
ACAN	176	broad.mit.edu	37	15	89401045	89401045	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89401045T>C	ENST00000561243.1	+	11	5229	c.5229T>C	c.(5227-5229)ccT>ccC	p.P1743P	ACAN_ENST00000559004.1_Silent_p.P1743P|ACAN_ENST00000439576.2_Silent_p.P1743P|ACAN_ENST00000352105.7_Silent_p.P1743P			P16112	PGCA_HUMAN	aggrecan	1767	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGGGTTTCCTGACACTAGTG	0.512																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5227-5229)ccT>ccC		aggrecan							100.0	100.0	100.0					15																	89401045		1914	4118	6032	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401045T>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5229T>C	15.37:g.89401045T>C						ACAN_ENST00000352105.7_Silent_p.P1743P|ACAN_ENST00000559004.1_Silent_p.P1743P|ACAN_ENST00000561243.1_Silent_p.P1743P	p.P1743P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5603	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1743					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.5229T>C	CCDS53970.1																																																																																				0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		52	99	0	0	0	1	0	52	99				
PITPNM3	83394	broad.mit.edu	37	17	6358759	6358759	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6358759C>T	ENST00000262483.8	-	20	2911	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	PITPNM3_ENST00000421306.3_Missense_Mutation_p.E906K|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	942					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGGGCCCGCTCGGGCTTGGGG	0.726																																						ENST00000262483.8																			0											c.(2824-2826)Gag>Aag									12.0	18.0	16.0					17																	6358759		2149	4262	6411	SO:0001583	missense	0							g.chr17:6358759C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2824G>A	17.37:g.6358759C>T	ENSP00000262483:p.Glu942Lys					ACKR6_ENST00000421306.3_Missense_Mutation_p.E906K|ACKR6_ENST00000576664.1_5'UTR	p.E942K	NM_031220.3	NP_112497.2					20	2911	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2824G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	36	5.859584	0.97036	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.51817	0.69;0.69	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	M	0.77820	2.39	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.986	T	0.67252	-0.5717	10	0.32370	T	0.25	.	15.693	0.77469	0.0:1.0:0.0:0.0	.	906;942	F8WEW5;Q9BZ71	.;PITM3_HUMAN	K	942;906	ENSP00000262483:E942K;ENSP00000407882:E906K	ENSP00000262483:E942K	E	-	1	0	PITPNM3	6299483	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.746000	0.85057	2.371000	0.80710	0.505000	0.49811	GAG		0.726	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		16	33	0	0	0	1	0	16	33				
IGKV1-17	28937	broad.mit.edu	37	2	89417282	89417282	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:89417282G>A	ENST00000490686.1	-	0	53									immunoglobulin kappa variable 1-17																		GGAGCCCCAGGAGCTGAGCGG	0.537																																						ENST00000490686.1																			0																				142.0	148.0	146.0					2																	89417282		1893	4116	6009			0							g.chr2:89417282G>A	X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89417282G>A														0	53	-									RNA	SNP	ENST00000490686.1	37																																																																																						0.537	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1	NG_000834		63	164	0	0	0	1	0	63	164				
TNFRSF21	27242	broad.mit.edu	37	6	47200581	47200581	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47200581C>T	ENST00000296861.2	-	6	2281	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	630					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)		p.E630K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCAATAATTTCGAATAGCCGG	0.493																																						ENST00000296861.2																			1	Substitution - Missense(1)	p.E630K(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1888-1890)Gaa>Aaa		tumor necrosis factor receptor superfamily, member 21							109.0	120.0	116.0					6																	47200581		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200581C>T	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1888G>A	6.37:g.47200581C>T	ENSP00000296861:p.Glu630Lys						p.E630K	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2281	-			630					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1888G>A	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125369	0.94429	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.70282	-0.47	5.95	5.95	0.96441	.	0.045975	0.85682	D	0.000000	T	0.70254	0.3203	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	P	0.62435	0.902	T	0.74200	-0.3742	10	0.87932	D	0	.	18.5737	0.91147	0.0:1.0:0.0:0.0	.	630	O75509	TNR21_HUMAN	K	630;319	ENSP00000296861:E630K	ENSP00000296861:E630K	E	-	1	0	TNFRSF21	47308540	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GAA		0.493	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		73	117	0	0	0	1	0	73	117				
SPHKAP	80309	broad.mit.edu	37	2	228884217	228884217	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228884217G>A	ENST00000392056.3	-	7	1399	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_ENST00000344657.5_Silent_p.V451V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	451						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGAACAACGACGATTTTGG	0.507																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1351-1353)gtC>gtT		SPHK1 interactor, AKAP domain containing							100.0	98.0	99.0					2																	228884217		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228884217G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1353C>T	2.37:g.228884217G>A						SPHKAP_ENST00000344657.5_Silent_p.V451V	p.V451V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1399	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	451					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.1353C>T	CCDS46537.1																																																																																				0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		26	58	0	0	0	1	0	26	58				
CD40LG	959	broad.mit.edu	37	X	135741501	135741501	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135741501T>G	ENST00000370629.2	+	5	769	c.713T>G	c.(712-714)tTt>tGt	p.F238C	CD40LG_ENST00000370628.2_Missense_Mutation_p.F217C	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	238					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GCTTCGGTGTTTGTCAATGTG	0.502									Immune Deficiency with Hyper-IgM																													ENST00000370629.2																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(712-714)tTt>tGt		CD40 ligand	Atorvastatin(DB01076)						167.0	144.0	151.0					X																	135741501		2203	4300	6503	SO:0001583	missense	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741501T>G	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.713T>G	X.37:g.135741501T>G	ENSP00000359663:p.Phe238Cys					CD40LG_ENST00000370628.2_Missense_Mutation_p.F217C	p.F238C	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN			5	769	+	Acute lymphoblastic leukemia(192;0.000127)		238						Missense_Mutation	SNP	ENST00000370629.2	37	c.713T>G	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816208	0.70912	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.94828	-3.53;-3.53	5.47	5.47	0.80525	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.112589	0.64402	D	0.000010	D	0.96728	0.8932	M	0.69823	2.125	0.45676	D	0.998591	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97237	0.9888	10	0.87932	D	0	-13.7167	14.2243	0.65848	0.0:0.0:0.0:1.0	.	217;238	Q3L8U2;P29965	.;CD40L_HUMAN	C	238;217	ENSP00000359663:F238C;ENSP00000359662:F217C	ENSP00000359662:F217C	F	+	2	0	CD40LG	135569167	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	5.482000	0.66833	1.822000	0.53115	0.486000	0.48141	TTT		0.502	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		63	125	0	0	0	1	0	63	125				
PBX3	5090	broad.mit.edu	37	9	128692040	128692040	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:128692040G>A	ENST00000373489.5	+	4	639	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	PBX3_ENST00000373487.4_Missense_Mutation_p.R208Q|PBX3_ENST00000447726.2_Missense_Mutation_p.R133Q|PBX3_ENST00000373483.2_Missense_Mutation_p.R27Q|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Missense_Mutation_p.R208Q	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	208					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						ATCATCCATCGAAAATTTAGT	0.393																																						ENST00000373487.4																			0				biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						c.(622-624)cGa>cAa		pre-B-cell leukemia homeobox 3							153.0	144.0	147.0					9																	128692040		2203	4300	6503	SO:0001583	missense	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128692040G>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.623G>A	9.37:g.128692040G>A	ENSP00000362588:p.Arg208Gln					PBX3_ENST00000447726.2_Missense_Mutation_p.R133Q|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.R27Q|PBX3_ENST00000373489.5_Missense_Mutation_p.R208Q|PBX3_ENST00000342287.5_Missense_Mutation_p.R208Q	p.R208Q			P40426	PBX3_HUMAN			4	703	+			208					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	c.623G>A	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547738	0.96488	.	.	ENSG00000167081	ENST00000373492;ENST00000373489;ENST00000342287;ENST00000373487;ENST00000373483;ENST00000373482;ENST00000447726;ENST00000538998	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.69	5.69	0.88448	PBX (1);	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.74258	2.255	0.80722	D	1	P;D;D	0.89917	0.885;1.0;0.994	P;D;P	0.87578	0.503;0.998;0.862	T	0.60984	-0.7154	10	0.45353	T	0.12	.	19.8141	0.96558	0.0:0.0:1.0:0.0	.	119;208;208	B7Z5Q0;Q5JS98;P40426	.;.;PBX3_HUMAN	Q	27;208;208;208;27;27;133;119	ENSP00000362588:R208Q;ENSP00000341990:R208Q;ENSP00000362586:R208Q;ENSP00000362582:R27Q;ENSP00000387456:R133Q;ENSP00000444005:R119Q	ENSP00000341990:R208Q	R	+	2	0	PBX3	127731861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.697000	0.92050	0.555000	0.69702	CGA		0.393	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			9	85	0	0	0	1	0	9	85				
GPR155	151556	broad.mit.edu	37	2	175306891	175306891	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175306891G>T	ENST00000392552.2	-	14	2368	c.2130C>A	c.(2128-2130)atC>atA	p.I710I	GPR155_ENST00000392551.2_Silent_p.I710I|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Silent_p.I710I	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	710					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTAATCCAAAGATTCCAAAGG	0.279																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(2128-2130)atC>atA		G protein-coupled receptor 155							41.0	48.0	46.0					2																	175306891		2190	4291	6481	SO:0001819	synonymous_variant	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175306891G>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2130C>A	2.37:g.175306891G>T						GPR155_ENST00000392551.2_Silent_p.I710I|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Silent_p.I710I	p.I710I	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN			14	2368	-			710					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	c.2130C>A	CCDS2259.1																																																																																				0.279	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		11	39	1	0	3.07112e-06	1	3.42433e-06	11	39				
IL3RA	3563	broad.mit.edu	37	X	1467357	1467357	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1467357A>G	ENST00000331035.4	+	4	566	c.217A>G	c.(217-219)Att>Gtt	p.I73V	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	73					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTTTGGAGCAATTTCCTTATG	0.453																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(217-219)Att>Gtt		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						488.0	434.0	453.0					X																	1467357		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1467357A>G	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.217A>G	X.37:g.1467357A>G	ENSP00000327890:p.Ile73Val					IL3RA_ENST00000381469.2_Intron	p.I73V	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			4	566	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	73					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.217A>G	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.802	-0.755217	0.03019	.	.	ENSG00000185291	ENST00000331035	T	0.30182	1.54	0.364	-0.728	0.11162	.	684.538000	0.01864	U	0.036830	T	0.15696	0.0378	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.07693	-1.0759	9	0.11794	T	0.64	-2.2384	.	.	.	.	73	P26951	IL3RA_HUMAN	V	73	ENSP00000327890:I73V	ENSP00000327890:I73V	I	+	1	0	IL3RA	1427357	0.000000	0.05858	0.014000	0.15608	0.142000	0.21351	-1.305000	0.02738	-0.863000	0.04084	0.093000	0.15507	ATT		0.453	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			94	166	0	0	0	1	0	94	166				
CELSR3	1951	broad.mit.edu	37	3	48699046	48699046	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48699046C>T	ENST00000164024.4	-	1	1302	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	CELSR3_ENST00000544264.1_Missense_Mutation_p.G341D|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	341	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCGCGGTGCCTGCTGCCTC	0.682																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(1021-1023)gGc>gAc		cadherin, EGF LAG seven-pass G-type receptor 3							41.0	46.0	44.0					3																	48699046		2189	4284	6473	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699046C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1022G>A	3.37:g.48699046C>T	ENSP00000164024:p.Gly341Asp					CELSR3_ENST00000164024.4_Missense_Mutation_p.G341D	p.G341D			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1302	-			341			Cadherin 1.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.1022G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654425	0.67472	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.75050	-0.9;-0.9	5.83	5.83	0.93111	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.88093	0.6344	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.954	D	0.88794	0.3280	9	0.87932	D	0	.	19.7135	0.96105	0.0:1.0:0.0:0.0	.	341;411	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	D	341	ENSP00000164024:G341D;ENSP00000445694:G341D	ENSP00000164024:G341D	G	-	2	0	CELSR3	48674050	1.000000	0.71417	0.984000	0.44739	0.202000	0.24057	5.948000	0.70249	2.769000	0.95229	0.655000	0.94253	GGC		0.682	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		40	75	0	0	0	1	0	40	75				
NRK	203447	broad.mit.edu	37	X	105190310	105190310	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105190310T>G	ENST00000243300.9	+	26	4510	c.4207T>G	c.(4207-4209)Ttt>Gtt	p.F1403V	NRK_ENST00000428173.2_Missense_Mutation_p.F1404V|NRK_ENST00000540278.1_5'Flank	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1403	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTCACAGGTATTTCCAACACT	0.368										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(4210-4212)Ttt>Gtt		Nik related kinase							58.0	48.0	51.0					X																	105190310		1836	4079	5915	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105190310T>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4207T>G	X.37:g.105190310T>G	ENSP00000434830:p.Phe1403Val	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.F1403V	p.F1404V			Q7Z2Y5	NRK_HUMAN			26	4513	+			1403			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.4210T>G		.	.	.	.	.	.	.	.	.	.	T	15.67	2.903082	0.52227	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04706	3.57;3.57	5.98	5.98	0.97165	Citron-like (2);	0.741229	0.11678	N	0.540113	T	0.22627	0.0546	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00045	-1.2215	10	0.87932	D	0	.	14.4107	0.67113	0.0:0.0:0.0:1.0	.	1403	Q7Z2Y5	NRK_HUMAN	V	1403;1404	ENSP00000434830:F1403V;ENSP00000438378:F1404V	ENSP00000434830:F1403V	F	+	1	0	NRK	105076966	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.368000	0.73104	2.002000	0.58637	0.486000	0.48141	TTT		0.368	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		5	20	0	0	0	1	0	5	20				
TTN	7273	broad.mit.edu	37	2	179584511	179584511	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179584511C>T	ENST00000591111.1	-	80	22981	c.22757G>A	c.(22756-22758)gGa>gAa	p.G7586E	TTN_ENST00000589042.1_Missense_Mutation_p.G7903E|TTN_ENST00000342992.6_Missense_Mutation_p.G6659E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13137	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAGGATTTCCAGTAGTGAC	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23707-23709)gGa>gAa		titin							118.0	105.0	109.0					2																	179584511		1871	4102	5973	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584511C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22757G>A	2.37:g.179584511C>T	ENSP00000465570:p.Gly7586Glu					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6659E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7586E	p.G7903E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		82	23932	-			7586			Ig-like 61.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23708G>A		.	.	.	.	.	.	.	.	.	.	C	15.25	2.779201	0.49891	.	.	ENSG00000155657	ENST00000342992	T	0.80653	-1.4	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93115	0.7808	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.93889	0.7178	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	7586	Q8WZ42	TITIN_HUMAN	E	6659	ENSP00000343764:G6659E	ENSP00000343764:G6659E	G	-	2	0	TTN	179292756	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.859000	0.62954	2.894000	0.99253	0.655000	0.94253	GGA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	18	0	0	0	1	0	10	18				
CTDSPL2	51496	broad.mit.edu	37	15	44811443	44811443	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44811443C>A	ENST00000260327.4	+	11	1752	c.1189C>A	c.(1189-1191)Ctt>Att	p.L397I	CTDSPL2_ENST00000558373.1_Missense_Mutation_p.L325I|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.L325I|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.L397I|CTD-2329K10.1_ENST00000561324.1_RNA	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	397	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TGGAAGAGATCTTTCAAAAAC	0.313																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.(1189-1191)Ctt>Att		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							48.0	54.0	52.0					15																	44811443		2196	4292	6488	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44811443C>A	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.1189C>A	15.37:g.44811443C>A	ENSP00000260327:p.Leu397Ile					CTDSPL2_ENST00000558373.1_Missense_Mutation_p.L325I|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.L325I|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.L397I	p.L397I	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	11	1752	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	397			FCP1 homology.		Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.1189C>A	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329502	0.95733	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.25749	1.78;1.78	5.98	5.98	0.97165	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.63058	0.2479	M	0.91459	3.21	0.80722	D	1	D;D	0.63880	0.979;0.993	P;D	0.76575	0.867;0.988	T	0.68777	-0.5319	10	0.66056	D	0.02	-8.9393	20.4561	0.99145	0.0:1.0:0.0:0.0	.	325;397	Q05D32-2;Q05D32	.;CTSL2_HUMAN	I	397;325	ENSP00000260327:L397I;ENSP00000380000:L325I	ENSP00000260327:L397I	L	+	1	0	CTDSPL2	42598735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.014000	0.70784	2.843000	0.97960	0.650000	0.86243	CTT		0.313	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		17	29	1	0	3.52763e-06	1	3.92945e-06	17	29				
FBN3	84467	broad.mit.edu	37	19	8191614	8191614	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8191614G>T	ENST00000600128.1	-	19	2813	c.2399C>A	c.(2398-2400)tCt>tAt	p.S800Y	FBN3_ENST00000601739.1_Missense_Mutation_p.S800Y|FBN3_ENST00000270509.2_Missense_Mutation_p.S800Y			Q75N90	FBN3_HUMAN	fibrillin 3	800	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGGTACCAGAGGGGTCCAG	0.667																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2398-2400)tCt>tAt		fibrillin 3							32.0	36.0	34.0					19																	8191614		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191614G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2399C>A	19.37:g.8191614G>T	ENSP00000470498:p.Ser800Tyr					FBN3_ENST00000601739.1_Missense_Mutation_p.S800Y|FBN3_ENST00000270509.2_Missense_Mutation_p.S800Y	p.S800Y			Q75N90	FBN3_HUMAN			19	2813	-			800			EGF-like 10; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2399C>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	12.86	2.065772	0.36470	.	.	ENSG00000142449	ENST00000270509	D	0.88046	-2.33	3.52	2.47	0.30058	Matrix fibril-associated (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.209202	0.38326	U	0.001740	D	0.86573	0.5965	L	0.48362	1.52	0.23192	N	0.998146	D	0.55385	0.971	P	0.55161	0.77	T	0.78109	-0.2332	10	0.72032	D	0.01	.	7.4615	0.27298	0.1063:0.228:0.6657:0.0	.	800	Q75N90	FBN3_HUMAN	Y	800	ENSP00000270509:S800Y	ENSP00000270509:S800Y	S	-	2	0	FBN3	8097614	0.984000	0.35163	0.254000	0.24359	0.185000	0.23345	2.495000	0.45337	0.474000	0.27392	0.491000	0.48974	TCT		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		21	39	1	0	8.34094e-07	1	9.42356e-07	21	39				
OR13J1	392309	broad.mit.edu	37	9	35869824	35869824	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35869824G>A	ENST00000377981.2	-	1	637	c.575C>T	c.(574-576)aCg>aTg	p.T192M		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGACCGACGTGTTGCCGCA	0.597																																						ENST00000377981.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(574-576)aCg>aTg		olfactory receptor, family 13, subfamily J, member 1							70.0	58.0	62.0					9																	35869824		2203	4300	6503	SO:0001583	missense	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869824G>A		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.575C>T	9.37:g.35869824G>A	ENSP00000367219:p.Thr192Met						p.T192M	NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	637	-	all_epithelial(49;0.169)		192					B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	ENST00000377981.2	37	c.575C>T	CCDS35011.1	.	.	.	.	.	.	.	.	.	.	G	5.519	0.280702	0.10458	.	.	ENSG00000168828	ENST00000377981	T	0.00265	8.39	4.68	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.107278	0.41605	D	0.000842	T	0.00271	0.0008	M	0.86097	2.795	0.23192	N	0.998149	B	0.31611	0.331	B	0.32465	0.146	T	0.28106	-1.0054	10	0.72032	D	0.01	.	8.742	0.34562	0.2541:0.0:0.7459:0.0	.	192	Q8NGT2	O13J1_HUMAN	M	192	ENSP00000367219:T192M	ENSP00000367219:T192M	T	-	2	0	OR13J1	35859824	0.110000	0.22057	0.052000	0.19188	0.000000	0.00434	0.779000	0.26746	0.475000	0.27415	-0.827000	0.03088	ACG		0.597	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			25	50	0	0	0	1	0	25	50				
RIMS1	22999	broad.mit.edu	37	6	72945357	72945357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:72945357C>T	ENST00000521978.1	+	8	1783	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R54*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R69*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R595*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.R595*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R69*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R595*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	595					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAGGGGGACCGATTAATTGG	0.368																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(1783-1785)Cga>Tga		regulating synaptic membrane exocytosis 1							71.0	69.0	70.0					6																	72945357		1884	4113	5997	SO:0001587	stop_gained	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72945357C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1783C>T	6.37:g.72945357C>T	ENSP00000428417:p.Arg595*					RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R54*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R595*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R595*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R69*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R69*	p.R595*			Q86UR5	RIMS1_HUMAN			8	1783	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	595					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.1783C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.005047|10.005047	0.99315|0.99315	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000517827	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.56097	.|D	.|0.000027	T|.	0.25606|.	0.0623|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14144|.	-1.0483|.	4|.	.|0.02654	.|T	.|1	-13.1319|-13.1319	14.4639|14.4639	0.67470|0.67470	0.0:0.9302:0.0:0.0698|0.0:0.9302:0.0:0.0698	.|.	.|.	.|.	.|.	L|X	168|595;595;595;595;595;595;595;595;595;595;595;595;69;69;54	.|.	.|ENSP00000264839:R595X	P|R	+|+	2|1	0|2	RIMS1|RIMS1	73002078|73002078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.068000|4.068000	0.57534|0.57534	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	CCG|CGA		0.368	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			3	18	0	0	0	1	0	3	18				
CCDC37	348807	broad.mit.edu	37	3	126137314	126137314	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:126137314G>A	ENST00000352312.1	+	6	531	c.432G>A	c.(430-432)gaG>gaA	p.E144E	CCDC37_ENST00000393425.1_Silent_p.E145E|CCDC37_ENST00000505024.1_Silent_p.E145E	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	144										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGAATGTGGAGCCTGAGAACA	0.612																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(433-435)gaG>gaA		coiled-coil domain containing 37							79.0	78.0	79.0					3																	126137314		2203	4300	6503	SO:0001819	synonymous_variant	348807							g.chr3:126137314G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.432G>A	3.37:g.126137314G>A						CCDC37_ENST00000505024.1_Silent_p.E145E|CCDC37_ENST00000352312.1_Silent_p.E144E	p.E145E			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	6	534	+			144					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.435G>A	CCDS3037.1																																																																																				0.612	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		28	61	0	0	0	1	0	28	61				
CATSPERD	257062	broad.mit.edu	37	19	5766116	5766116	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5766116G>A	ENST00000381624.3	+	17	1570	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	CATSPERD_ENST00000381614.2_Silent_p.S161S|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	503					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CTCTGCAGTCGACACTGATTT	0.522																																						ENST00000381624.3																			0											c.(1507-1509)tcG>tcA		catsper channel auxiliary subunit delta							116.0	110.0	112.0					19																	5766116		1991	4160	6151	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5766116G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1509G>A	19.37:g.5766116G>A						CATSPERD_ENST00000381614.2_Silent_p.S161S|CATSPERD_ENST00000309164.7_3'UTR	p.S503S	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			17	1570	+			503					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1509G>A	CCDS12149.2																																																																																				0.522	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		14	23	0	0	0	1	0	14	23				
SRFBP1	153443	broad.mit.edu	37	5	121355981	121355981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121355981C>A	ENST00000339397.4	+	6	623	c.551C>A	c.(550-552)tCa>tAa	p.S184*		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ATACATAATTCAAAGGAAAAA	0.358																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(550-552)tCa>tAa		serum response factor binding protein 1							113.0	103.0	106.0					5																	121355981		1860	4087	5947	SO:0001587	stop_gained	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121355981C>A	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.551C>A	5.37:g.121355981C>A	ENSP00000341324:p.Ser184*						p.S184*	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	623	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	184						Nonsense_Mutation	SNP	ENST00000339397.4	37	c.551C>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046256	0.75846	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.15	3.24	0.37175	.	1.163430	0.05974	N	0.642993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0261	6.1406	0.20257	0.2392:0.5753:0.1164:0.0692	.	.	.	.	X	184	.	ENSP00000341324:S184X	S	+	2	0	SRFBP1	121383880	0.975000	0.34042	0.906000	0.35671	0.347000	0.29111	3.184000	0.50926	1.286000	0.44565	0.467000	0.42956	TCA		0.358	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		15	32	1	0	1.49906e-05	1	1.64923e-05	15	32				
AZGP1	563	broad.mit.edu	37	7	99564860	99564860	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99564860C>A	ENST00000292401.4	-	4	799	c.663G>T	c.(661-663)aaG>aaT	p.K221N	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	221	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACTTCAGTTTCTTCTTTTCTC	0.582																																						ENST00000292401.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(661-663)aaG>aaT		alpha-2-glycoprotein 1, zinc-binding							29.0	32.0	31.0					7																	99564860		2202	4276	6478	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564860C>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.663G>T	7.37:g.99564860C>A	ENSP00000292401:p.Lys221Asn					AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	p.K221N	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN			4	799	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		221			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.663G>T	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	5.443	0.266813	0.10294	.	.	ENSG00000160862	ENST00000292401;ENST00000419575	T	0.02421	4.3	2.34	-1.59	0.08453	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.576380	0.04933	U	0.457113	T	0.01029	0.0034	N	0.01656	-0.775	0.09310	N	1	P	0.36065	0.535	B	0.28553	0.091	T	0.34254	-0.9836	10	0.87932	D	0	.	0.2056	0.00150	0.212:0.2776:0.2092:0.3012	.	221	P25311	ZA2G_HUMAN	N	221;71	ENSP00000292401:K221N	ENSP00000292401:K221N	K	-	3	2	AZGP1	99402796	0.000000	0.05858	0.009000	0.14445	0.102000	0.19082	-0.370000	0.07523	-0.132000	0.11557	0.313000	0.20887	AAG		0.582	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		8	20	1	0	5.4927e-09	1	6.54492e-09	8	20				
AXDND1	126859	broad.mit.edu	37	1	179380300	179380300	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179380300G>T	ENST00000367618.3	+	12	1516	c.1129G>T	c.(1129-1131)Gac>Tac	p.D377Y	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D377Y	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	377										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGAATATCATGACTTATATAC	0.279																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1129-1131)Gac>Tac		axonemal dynein light chain domain containing 1							59.0	70.0	67.0					1																	179380300		2203	4296	6499	SO:0001583	missense	126859							g.chr1:179380300G>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1129G>T	1.37:g.179380300G>T	ENSP00000356590:p.Asp377Tyr					AXDND1_ENST00000457238.2_Missense_Mutation_p.D377Y|AXDND1_ENST00000461179.2_3'UTR	p.D377Y	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			12	1516	+			377					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1129G>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421891	0.62622	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.51817	1.98;0.69;2.01	5.18	5.18	0.71444	.	0.222746	0.45867	D	0.000321	T	0.62998	0.2474	L	0.50333	1.59	0.32895	D	0.512368	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.964	T	0.71988	-0.4426	10	0.87932	D	0	-5.8789	14.5509	0.68065	0.0:0.0:1.0:0.0	.	335;377;377	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	Y	377;335;377;311	ENSP00000356590:D377Y;ENSP00000416712:D377Y;ENSP00000391716:D311Y	ENSP00000353471:D335Y	D	+	1	0	AXDND1	177646923	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	4.742000	0.62103	2.552000	0.86080	0.585000	0.79938	GAC		0.279	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		24	57	1	0	4.72057e-08	1	5.51616e-08	24	57				
DDX4	54514	broad.mit.edu	37	5	55109548	55109548	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55109548T>G	ENST00000505374.1	+	19	1755	c.1663T>G	c.(1663-1665)Ttt>Gtt	p.F555V	DDX4_ENST00000514278.2_Missense_Mutation_p.F535V|DDX4_ENST00000354991.5_Missense_Mutation_p.F521V|DDX4_ENST00000353507.5_Missense_Mutation_p.F521V|DDX4_ENST00000511853.1_Missense_Mutation_p.F406V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	555	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AAAAGCAGATTTTATTGCAAC	0.289																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1663-1665)Ttt>Gtt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							90.0	108.0	102.0					5																	55109548		2202	4299	6501	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55109548T>G	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1663T>G	5.37:g.55109548T>G	ENSP00000424838:p.Phe555Val					DDX4_ENST00000354991.5_Missense_Mutation_p.F521V|DDX4_ENST00000514278.2_Missense_Mutation_p.F535V|DDX4_ENST00000511853.1_Missense_Mutation_p.F406V|DDX4_ENST00000353507.5_Missense_Mutation_p.F521V	p.F555V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			19	1755	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	555			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1663T>G	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.924444	0.73213	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	6.17	6.17	0.99709	Helicase, C-terminal (2);	0.049562	0.85682	D	0.000000	D	0.91784	0.7401	L	0.31420	0.93	0.38795	D	0.955068	B;B;P;D	0.61697	0.155;0.429;0.874;0.99	B;B;P;P	0.58620	0.081;0.214;0.778;0.842	D	0.92816	0.6268	10	0.59425	D	0.04	-6.0445	12.6398	0.56702	0.0:0.0:0.1377:0.8623	.	535;406;521;555	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	V	521;535;555;521;406	ENSP00000334167:F521V;ENSP00000425359:F535V;ENSP00000424838:F555V;ENSP00000347087:F521V;ENSP00000423123:F406V	ENSP00000334167:F521V	F	+	1	0	DDX4	55145305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.814000	0.55643	2.371000	0.80710	0.533000	0.62120	TTT		0.289	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		42	61	0	0	0	1	0	42	61				
MMP24	10893	broad.mit.edu	37	20	33867534	33867534	+	IGR	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33867534C>T	ENST00000246186.6	+	0	4412				EIF6_ENST00000374450.3_Missense_Mutation_p.R188Q|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.R188Q|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EIF6_ENST00000462894.1_5'Flank|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_5'Flank|EIF6_ENST00000374443.3_Missense_Mutation_p.R169Q	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)						cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CTCACTGCCTCGGTTCACAGT	0.577																																						ENST00000374450.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9						c.(562-564)cGa>cAa		eukaryotic translation initiation factor 6							192.0	146.0	161.0					20																	33867534		2203	4300	6503	SO:0001628	intergenic_variant	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33867534C>T	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330		20.37:g.33867534C>T						EIF6_ENST00000374436.3_Missense_Mutation_p.R188Q|EIF6_ENST00000374443.3_Missense_Mutation_p.R169Q|RP4-614O4.11_ENST00000444717.1_RNA	p.R188Q	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		6	827	-			188					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.563G>A	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479787	0.84747	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	M	0.93375	3.41	0.80722	D	1	D;D	0.56287	0.975;0.966	P;B	0.54431	0.752;0.385	D	0.86899	0.2053	9	0.49607	T	0.09	-7.9644	17.8149	0.88628	0.0:1.0:0.0:0.0	.	169;188	B7ZBG9;P56537	.;IF6_HUMAN	Q	188;169;188	.	ENSP00000363559:R188Q	R	-	2	0	EIF6	33330948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.747000	0.85070	2.534000	0.85438	0.555000	0.69702	CGA		0.577	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		23	91	0	0	0	1	0	23	91				
ZNF804B	219578	broad.mit.edu	37	7	88964251	88964251	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88964251G>T	ENST00000333190.4	+	4	2564	c.1955G>T	c.(1954-1956)aGa>aTa	p.R652I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	652							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAAGATGAAAGACAATTCAAC	0.398										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1954-1956)aGa>aTa		zinc finger protein 804B							100.0	95.0	97.0					7																	88964251		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964251G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1955G>T	7.37:g.88964251G>T	ENSP00000329638:p.Arg652Ile	HNSCC(36;0.09)					p.R652I	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2564	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		652					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1955G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	2.289	-0.363006	0.05103	.	.	ENSG00000182348	ENST00000333190	T	0.04917	3.53	5.48	-2.72	0.05968	.	0.955155	0.08781	N	0.894667	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.23490	0.086	B	0.16722	0.016	T	0.45264	-0.9273	10	0.37606	T	0.19	-0.8888	7.5337	0.27697	0.3398:0.4042:0.256:0.0	.	652	A4D1E1	Z804B_HUMAN	I	652	ENSP00000329638:R652I	ENSP00000329638:R652I	R	+	2	0	ZNF804B	88802187	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.281000	0.18810	-0.317000	0.08677	-0.903000	0.02851	AGA		0.398	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		24	38	1	0	2.44723e-14	1	3.18537e-14	24	38				
POTEE	445582	broad.mit.edu	37	2	132020932	132020932	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:132020932C>A	ENST00000356920.5	+	15	1998	c.1904C>A	c.(1903-1905)tCt>tAt	p.S635Y	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	635					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ACTTAGCTTTCTCTTAGTTGT	0.323																																						ENST00000356920.5																			0											c.(1903-1905)tCt>tAt		POTE ankyrin domain family, member E							18.0	20.0	19.0					2																	132020932		1877	4096	5973	SO:0001583	missense	445582						ATP binding	g.chr2:132020932C>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1904C>A	2.37:g.132020932C>A	ENSP00000439189:p.Ser635Tyr					PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	p.S635Y	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	1998	+			635					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.1904C>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.692	1.152231	0.21371	.	.	ENSG00000188219	ENST00000356920	T	0.80393	-1.37	0.993	0.993	0.19825	.	.	.	.	.	T	0.77267	0.4105	M	0.83384	2.64	0.09310	N	0.999999	D	0.54964	0.969	B	0.41332	0.354	T	0.70666	-0.4809	9	0.87932	D	0	.	3.305	0.06997	0.0:0.7141:0.0:0.2858	.	635	Q6S8J3	POTEE_HUMAN	Y	635	ENSP00000439189:S635Y	ENSP00000439189:S635Y	S	+	2	0	AC131180.1	131737402	0.000000	0.05858	0.500000	0.27589	0.026000	0.11368	-0.101000	0.10973	0.847000	0.35167	0.184000	0.17185	TCT		0.323	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		6	15	1	0	1.12685e-05	1	1.24509e-05	6	15				
TRAPPC9	83696	broad.mit.edu	37	8	140922403	140922403	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:140922403G>A	ENST00000438773.2	-	20	3085	c.2952C>T	c.(2950-2952)atC>atT	p.I984I	RP11-284H18.1_ENST00000518354.1_RNA|TRAPPC9_ENST00000389328.4_Silent_p.I1082I|TRAPPC9_ENST00000389327.3_Silent_p.I975I|TRAPPC9_ENST00000522504.1_5'Flank	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	984					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTCTCCAGCAGATGCCCAGCT	0.602																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(3244-3246)atC>atT		trafficking protein particle complex 9							62.0	69.0	67.0					8																	140922403		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:140922403G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2952C>T	8.37:g.140922403G>A						TRAPPC9_ENST00000389327.3_Silent_p.I975I|TRAPPC9_ENST00000438773.2_Silent_p.I984I	p.I1082I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			20	3260	-			984					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.3246C>T	CCDS55278.1																																																																																				0.602	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		34	59	0	0	0	1	0	34	59				
ATF3	467	broad.mit.edu	37	1	212792760	212792760	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:212792760A>C	ENST00000341491.4	+	4	674	c.409A>C	c.(409-411)Aac>Cac	p.N137H	ATF3_ENST00000366987.2_Missense_Mutation_p.N137H|ATF3_ENST00000366983.1_3'UTR|ATF3_ENST00000492118.1_3'UTR|ATF3_ENST00000366985.1_Missense_Mutation_p.N80H	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	137	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	GGAGCTCAAGAACGAGAAGCA	0.502																																						ENST00000341491.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(409-411)Aac>Cac		activating transcription factor 3							113.0	99.0	104.0					1																	212792760		2203	4300	6503	SO:0001583	missense	467					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:212792760A>C	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.409A>C	1.37:g.212792760A>C	ENSP00000344352:p.Asn137His					ATF3_ENST00000366987.2_Missense_Mutation_p.N137H|ATF3_ENST00000366985.1_Missense_Mutation_p.N80H|ATF3_ENST00000492118.1_3'UTR|ATF3_ENST00000366983.1_3'UTR	p.N137H	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	4	674	+			137			Leucine-zipper.		Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Missense_Mutation	SNP	ENST00000341491.4	37	c.409A>C	CCDS1506.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977730	0.74360	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366985	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.17	6.17	0.99709	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.224684	0.52532	D	0.000075	T	0.60702	0.2289	L	0.39397	1.21	0.80722	D	1	P	0.48998	0.918	P	0.55455	0.776	T	0.60541	-0.7243	10	0.52906	T	0.07	-27.386	16.8222	0.85835	1.0:0.0:0.0:0.0	.	137	P18847	ATF3_HUMAN	H	137;137;137;80	ENSP00000355948:N137H;ENSP00000355954:N137H;ENSP00000344352:N137H;ENSP00000355952:N80H	ENSP00000344352:N137H	N	+	1	0	ATF3	210859383	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	4.521000	0.60532	2.371000	0.80710	0.533000	0.62120	AAC		0.502	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	NM_001674		40	65	0	0	0	1	0	40	65				
ZNF733P	643955	broad.mit.edu	37	7	62752332	62752332	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:62752332C>A	ENST00000331425.6	-	0	1103					NR_003952.1				zinc finger protein 733, pseudogene																		TGTAGGGTTTCTCTCCAGTAT	0.423																																						ENST00000331425.6																			0																																																			0							g.chr7:62752332C>A			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752332C>A								NR_003952.1						0	1103	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.423	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			15	30	1	0	2.98522e-18	1	4.04089e-18	15	30				
ABCB1	5243	broad.mit.edu	37	7	87196193	87196193	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87196193T>G	ENST00000265724.3	-	7	855	c.438A>C	c.(436-438)aaA>aaC	p.K146N	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	146	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTTTTCTAATTTTGTGTATTT	0.433																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(436-438)aaA>aaC		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						124.0	126.0	126.0					7																	87196193		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87196193T>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.438A>C	7.37:g.87196193T>G	ENSP00000265724:p.Lys146Asn					ABCB1_ENST00000543898.1_Intron	p.K146N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			7	855	-	Esophageal squamous(14;0.00164)		146			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.438A>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595785	0.46318	.	.	ENSG00000085563	ENST00000265724	D	0.91011	-2.77	5.91	3.55	0.40652	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.199566	0.49305	D	0.000159	D	0.86493	0.5946	L	0.39633	1.23	0.80722	D	1	P	0.35551	0.509	B	0.41332	0.354	T	0.82898	-0.0229	10	0.87932	D	0	-15.5561	6.4162	0.21717	0.0:0.1409:0.1325:0.7266	.	146	P08183	MDR1_HUMAN	N	146	ENSP00000265724:K146N	ENSP00000265724:K146N	K	-	3	2	ABCB1	87034129	0.997000	0.39634	0.910000	0.35882	0.847000	0.48162	0.820000	0.27323	0.506000	0.28125	-0.290000	0.09829	AAA		0.433	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		18	40	0	0	0	1	0	18	40				
LOC101927209	101927209	broad.mit.edu	37	1	142713498	142713498	+	lincRNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:142713498C>A	ENST00000610091.1	-	0	2160																											TTTTAGGTTTCTTTCTGTTTT	0.353																																						ENST00000369381.2																			0																																																			0							g.chr1:142713498C>A																													1.37:g.142713498C>A														0	1107	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.353	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			14	49	1	0	1.56452e-12	1	1.97515e-12	14	49				
PLA2G4E	123745	broad.mit.edu	37	15	42275988	42275988	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42275988C>A	ENST00000399518.3	-	20	3057	c.2571G>T	c.(2569-2571)gaG>gaT	p.E857D	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E828D	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	845					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCTTCTTCTTCTCCACTGCGA	0.562																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(2569-2571)gaG>gaT		phospholipase A2, group IVE							40.0	40.0	40.0					15																	42275988		1898	4107	6005	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42275988C>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.2571G>T	15.37:g.42275988C>A	ENSP00000382434:p.Glu857Asp					CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E828D	p.E857D	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	20	3057	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	845					Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.2571G>T	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555610	0.45487	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.04551	3.6;3.6	5.56	4.45	0.53987	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.136202	0.52532	D	0.000073	T	0.06188	0.0160	L	0.50333	1.59	0.27280	N	0.958123	P;B	0.45672	0.864;0.047	B;B	0.40825	0.341;0.015	T	0.25293	-1.0136	10	0.39692	T	0.17	-23.3484	11.0929	0.48125	0.0:0.8593:0.0:0.1407	.	828;845	C9JK77;Q3MJ16	.;PA24E_HUMAN	D	857;828	ENSP00000382434:E857D;ENSP00000413897:E828D	ENSP00000382434:E857D	E	-	3	2	PLA2G4E	40063280	0.995000	0.38212	1.000000	0.80357	0.681000	0.39784	0.150000	0.16263	2.608000	0.88229	0.655000	0.94253	GAG		0.562	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		10	11	1	0	2.17888e-05	1	2.39107e-05	10	11				
ERC2	26059	broad.mit.edu	37	3	56468777	56468777	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56468777T>G	ENST00000288221.6	-	2	514	c.259A>C	c.(259-261)Aat>Cat	p.N87H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	87						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACAGCTCGATTTGTAGCCCTT	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(259-261)Aat>Cat		ELKS/RAB6-interacting/CAST family member 2							199.0	191.0	194.0					3																	56468777		1993	4172	6165	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468777T>G	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.259A>C	3.37:g.56468777T>G	ENSP00000288221:p.Asn87His						p.N87H	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	514	-			87					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.259A>C	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178943	0.57692	.	.	ENSG00000187672	ENST00000288221	T	0.31510	1.49	5.88	5.88	0.94601	.	0.086790	0.85682	D	0.000000	T	0.22205	0.0535	N	0.08118	0	0.40179	D	0.977264	P	0.51791	0.948	B	0.44315	0.446	T	0.14420	-1.0473	10	0.72032	D	0.01	-30.1971	16.3015	0.82820	0.0:0.0:0.0:1.0	.	87	O15083	ERC2_HUMAN	H	87	ENSP00000288221:N87H	ENSP00000288221:N87H	N	-	1	0	ERC2	56443817	1.000000	0.71417	0.976000	0.42696	0.922000	0.55478	7.665000	0.83852	2.239000	0.73571	0.533000	0.62120	AAT		0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		50	107	0	0	0	1	0	50	107				
ZNF366	167465	broad.mit.edu	37	5	71756207	71756207	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71756207C>T	ENST00000318442.5	-	2	1607	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	373					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTGGGGAAGTCGAGGCCGCAC	0.657																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1117-1119)Gac>Aac		zinc finger protein 366							99.0	85.0	90.0					5																	71756207		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756207C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1117G>A	5.37:g.71756207C>T	ENSP00000313158:p.Asp373Asn						p.D373N	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1607	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	373					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1117G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114789	0.94339	.	.	ENSG00000178175	ENST00000318442	T	0.27720	1.65	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.64402	D	0.000002	T	0.40272	0.1110	N	0.11818	0.18	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.33548	-0.9864	10	0.33141	T	0.24	-54.9687	20.0505	0.97625	0.0:1.0:0.0:0.0	.	373	Q8N895	ZN366_HUMAN	N	373	ENSP00000313158:D373N	ENSP00000313158:D373N	D	-	1	0	ZNF366	71791963	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.739000	0.93911	0.561000	0.74099	GAC		0.657	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			20	35	0	0	0	1	0	20	35				
DDX46	9879	broad.mit.edu	37	5	134162645	134162645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:134162645G>T	ENST00000354283.4	+	22	3118	c.2983G>T	c.(2983-2985)Gaa>Taa	p.E995*	DDX46_ENST00000452510.2_Nonsense_Mutation_p.E996*			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	995					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTGCCAATGAACTGGCTGT	0.413																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2986-2988)Gaa>Taa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							61.0	58.0	59.0					5																	134162645		2203	4300	6503	SO:0001587	stop_gained	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134162645G>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2983G>T	5.37:g.134162645G>T	ENSP00000346236:p.Glu995*					DDX46_ENST00000354283.4_Nonsense_Mutation_p.E995*	p.E996*	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		22	3144	+			995					O94894|Q96EI0|Q9Y658	Nonsense_Mutation	SNP	ENST00000354283.4	37	c.2986G>T	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	42	9.782218	0.99263	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.8042	19.9161	0.97063	0.0:0.0:1.0:0.0	.	.	.	.	X	996;995	.	ENSP00000346236:E995X	E	+	1	0	DDX46	134190544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.710000	0.92621	0.650000	0.86243	GAA		0.413	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		5	17	1	0	0.184627	1	0.185817	5	17				
STARD8	9754	broad.mit.edu	37	X	67943867	67943867	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67943867C>T	ENST00000252336.6	+	13	3230	c.2858C>T	c.(2857-2859)tCg>tTg	p.S953L	STARD8_ENST00000374599.3_Missense_Mutation_p.S1033L|STARD8_ENST00000374597.3_Missense_Mutation_p.S953L	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	953	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GTGCCAGAGTCGGGTGTGCGA	0.617																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(2857-2859)tCg>tTg		StAR-related lipid transfer (START) domain containing 8							118.0	78.0	92.0					X																	67943867		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67943867C>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2858C>T	X.37:g.67943867C>T	ENSP00000252336:p.Ser953Leu					STARD8_ENST00000374597.3_Missense_Mutation_p.S953L|STARD8_ENST00000374599.3_Missense_Mutation_p.S1033L	p.S953L	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			13	3230	+			953			START.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.2858C>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624583	0.28889	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.31769	1.48;1.48;1.48	4.52	4.52	0.55395	Lipid-binding START (3);START-like domain (1);	0.346348	0.21619	N	0.071669	T	0.21387	0.0515	N	0.14661	0.345	0.09310	N	1	P;P	0.51537	0.946;0.753	P;B	0.46510	0.519;0.349	T	0.05632	-1.0873	10	0.42905	T	0.14	.	9.0403	0.36314	0.2188:0.7812:0.0:0.0	.	1033;953	Q92502-2;Q92502	.;STAR8_HUMAN	L	953;1033;953	ENSP00000252336:S953L;ENSP00000363727:S1033L;ENSP00000363725:S953L	ENSP00000252336:S953L	S	+	2	0	STARD8	67860592	0.681000	0.27614	0.848000	0.33437	0.772000	0.43724	1.196000	0.32198	2.108000	0.64289	0.594000	0.82650	TCG		0.617	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		22	39	0	0	0	1	0	22	39				
ABCA1	19	broad.mit.edu	37	9	107548664	107548664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107548664C>A	ENST00000374736.3	-	48	6710	c.6316G>T	c.(6316-6318)Gaa>Taa	p.E2106*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2106	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCTTCACATTCTTCCATACTG	0.413																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6316-6318)Gaa>Taa		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						134.0	121.0	126.0					9																	107548664		2203	4300	6503	SO:0001587	stop_gained	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107548664C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6316G>T	9.37:g.107548664C>A	ENSP00000363868:p.Glu2106*						p.E2106*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	48	6710	-			2106			ABC transporter 2.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.6316G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	50	16.443165	0.99863	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0431	0.97598	0.0:1.0:0.0:0.0	.	.	.	.	X	2106	.	ENSP00000363868:E2106X	E	-	1	0	ABCA1	106588485	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.740000	0.93945	0.650000	0.86243	GAA		0.413	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		21	44	1	0	7.41877e-09	1	8.8016e-09	21	44				
TAF5	6877	broad.mit.edu	37	10	105147069	105147069	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105147069T>C	ENST00000369839.3	+	9	1990	c.1967T>C	c.(1966-1968)gTc>gCc	p.V656A	TAF5_ENST00000351396.4_Missense_Mutation_p.V601A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	656					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTCTGGGACGTCCTGAATGGT	0.413																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(1966-1968)gTc>gCc		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							93.0	94.0	94.0					10																	105147069		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105147069T>C	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1967T>C	10.37:g.105147069T>C	ENSP00000358854:p.Val656Ala					TAF5_ENST00000351396.4_Missense_Mutation_p.V601A	p.V656A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	9	1990	+		Colorectal(252;0.0747)|Breast(234;0.128)	656					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.1967T>C	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	T	6.334	0.429682	0.11987	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	D;D	0.81739	-1.53;-1.53	5.52	4.39	0.52855	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	L	0.35414	1.06	0.58432	D	0.999998	P;P	0.38195	0.525;0.622	B;B	0.36092	0.217;0.152	T	0.68119	-0.5493	10	0.42905	T	0.14	-9.508	11.2872	0.49228	0.0:0.0714:0.0:0.9286	.	601;656	Q15542-2;Q15542	.;TAF5_HUMAN	A	656;601	ENSP00000358854:V656A;ENSP00000311024:V601A	ENSP00000311024:V601A	V	+	2	0	TAF5	105137059	1.000000	0.71417	0.982000	0.44146	0.002000	0.02628	7.685000	0.84117	0.923000	0.37045	-0.361000	0.07541	GTC		0.413	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			6	44	0	0	0	1	0	6	44				
GDF3	9573	broad.mit.edu	37	12	7842753	7842753	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7842753G>T	ENST00000329913.3	-	2	863	c.816C>A	c.(814-816)aaC>aaA	p.N272K		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	272					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTCCCGGAAGTTAATGAATA	0.532																																						ENST00000329913.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(814-816)aaC>aaA		growth differentiation factor 3							73.0	71.0	71.0					12																	7842753		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842753G>T	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.816C>A	12.37:g.7842753G>T	ENSP00000331745:p.Asn272Lys						p.N272K	NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN			2	863	-			272					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.816C>A	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186202	0.38609	.	.	ENSG00000184344	ENST00000329913	T	0.76839	-1.05	4.61	3.72	0.42706	Transforming growth factor-beta, C-terminal (3);	0.244803	0.48767	D	0.000172	T	0.68201	0.2975	L	0.38175	1.15	0.44677	D	0.997667	B	0.19445	0.036	B	0.23419	0.046	T	0.64909	-0.6296	10	0.51188	T	0.08	.	10.5421	0.45039	0.0957:0.0:0.9043:0.0	.	272	Q9NR23	GDF3_HUMAN	K	272	ENSP00000331745:N272K	ENSP00000331745:N272K	N	-	3	2	GDF3	7734020	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.089000	0.41672	1.077000	0.40990	0.561000	0.74099	AAC		0.532	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			32	58	1	0	1.61788e-16	1	2.15322e-16	32	58				
RNF2	6045	broad.mit.edu	37	1	185069003	185069003	+	Missense_Mutation	SNP	G	G	A	rs181445322		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185069003G>A	ENST00000367510.3	+	6	1106	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	RNF2_ENST00000367509.4_Missense_Mutation_p.R201Q	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	273					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GAAGAACTTCGAAGCAAAGGT	0.393													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17281	0.0		0.0	False		,,,				2504	0.0					ENST00000367510.3																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14						c.(817-819)cGa>cAa		ring finger protein 2							94.0	94.0	94.0					1																	185069003		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185069003G>A	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.818G>A	1.37:g.185069003G>A	ENSP00000356480:p.Arg273Gln					RNF2_ENST00000367509.4_Missense_Mutation_p.R201Q	p.R273Q	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	6	1106	+		Breast(1374;0.000496)	273					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.818G>A	CCDS1365.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.524	1.109177	0.20714	.	.	ENSG00000121481	ENST00000367510;ENST00000367509	D	0.84516	-1.86	5.83	3.92	0.45320	.	0.051265	0.85682	N	0.000000	T	0.73194	0.3556	N	0.25647	0.755	0.53005	D	0.999961	B;B	0.14012	0.003;0.009	B;B	0.01281	0.0;0.0	T	0.62714	-0.6796	10	0.08837	T	0.75	0.3111	11.8513	0.52413	0.1454:0.0:0.8546:0.0	.	201;273	B3KRH1;Q99496	.;RING2_HUMAN	Q	273;201	ENSP00000356480:R273Q	ENSP00000356479:R201Q	R	+	2	0	RNF2	183335626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.262000	0.95591	0.776000	0.33473	-0.142000	0.14014	CGA		0.393	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		27	52	0	0	0	1	0	27	52				
SLC1A4	6509	broad.mit.edu	37	2	65231096	65231096	+	Missense_Mutation	SNP	G	G	A	rs140402535		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:65231096G>A	ENST00000234256.3	+	3	823	c.580G>A	c.(580-582)Gat>Aat	p.D194N	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	194					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GTATGCAACCGATTATAAAGT	0.408																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(580-582)Gat>Aat		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)	G	,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	126.0	117.0	121.0		,580	2.1	0.0	2	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	yes	utr-5,missense	SLC1A4	NM_001193493.1,NM_003038.4	,23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,194/533	65231096	2,13004	2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65231096G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.580G>A	2.37:g.65231096G>A	ENSP00000234256:p.Asp194Asn					SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	p.D194N	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			3	823	+			194					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.580G>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675509	0.29783	2.27E-4	1.16E-4	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.49432	0.78	5.94	2.1	0.27182	.	0.613082	0.18921	N	0.127471	T	0.28995	0.0720	L	0.28014	0.82	0.27086	N	0.962975	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.20874	-1.0262	10	0.11182	T	0.66	-21.224	9.1572	0.37000	0.2893:0.0:0.7107:0.0	.	194;194	P43007;B2R7N6	SATT_HUMAN;.	N	114;194	ENSP00000234256:D194N	ENSP00000234256:D194N	D	+	1	0	SLC1A4	65084600	0.000000	0.05858	0.009000	0.14445	0.366000	0.29705	0.383000	0.20651	0.399000	0.25367	0.650000	0.86243	GAT		0.408	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		4	32	0	0	0	1	0	4	32				
IKBKB	3551	broad.mit.edu	37	8	42173742	42173742	+	Missense_Mutation	SNP	G	G	A	rs200841053		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42173742G>A	ENST00000520810.1	+	10	1001	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	IKBKB_ENST00000416505.2_Missense_Mutation_p.R213Q|IKBKB_ENST00000379708.3_Missense_Mutation_p.R49Q|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.R270Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTGGCTGAGCGACTGGAGAAG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18090	0.0		0.0	False		,,,				2504	0.0					ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(814-816)cGa>cAa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						64.0	56.0	59.0					8																	42173742		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42173742G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.815G>A	8.37:g.42173742G>A	ENSP00000430684:p.Arg272Gln					IKBKB_ENST00000379708.3_Missense_Mutation_p.R49Q|IKBKB_ENST00000520835.1_Missense_Mutation_p.R270Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R213Q|IKBKB_ENST00000522147.1_Intron	p.R272Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		10	1001	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	272			Protein kinase.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.815G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736214	0.49045	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.65364	-0.15;-0.15;-0.15;2.98	5.27	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.124112	0.51477	D	0.000100	T	0.35595	0.0937	N	0.10760	0.04	0.09310	N	1	B;B;B;B;B;B	0.30114	0.002;0.227;0.005;0.269;0.165;0.269	B;B;B;B;B;B	0.26202	0.003;0.027;0.004;0.067;0.046;0.046	T	0.18335	-1.0340	10	0.13108	T	0.6	.	9.2585	0.37597	0.2262:0.0:0.7738:0.0	.	213;270;49;223;272;272	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	Q	272;213;270;49	ENSP00000430684:R272Q;ENSP00000404920:R213Q;ENSP00000430868:R270Q;ENSP00000369030:R49Q	ENSP00000369030:R49Q	R	+	2	0	IKBKB	42292899	0.085000	0.21516	0.179000	0.23059	0.598000	0.36846	0.966000	0.29331	1.225000	0.43566	0.563000	0.77884	CGA		0.587	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			18	34	0	0	0	1	0	18	34				
GID4	79018	broad.mit.edu	37	17	17957474	17957474	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17957474G>A	ENST00000268719.4	+	3	705	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	GID4_ENST00000376345.3_Missense_Mutation_p.E178K	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	178																	CTTCGAAGGAGAAATAATCAG	0.388																																						ENST00000268719.4																			0											c.(532-534)Gaa>Aaa		GID complex subunit 4							117.0	111.0	113.0					17																	17957474		2203	4300	6503	SO:0001583	missense	79018							g.chr17:17957474G>A	AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"""vacuolar import and degradation 24"""		"""chromosome 17 open reading frame 39"", ""GID complex subunit 4, VID24 homolog (S. cerevisiae)"""	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.532G>A	17.37:g.17957474G>A	ENSP00000268719:p.Glu178Lys					GID4_ENST00000376345.3_Missense_Mutation_p.E178K	p.E178K	NM_024052.4	NP_076957.3					3	705	+								Q8TEB5|Q9BW50	Missense_Mutation	SNP	ENST00000268719.4	37	c.532G>A	CCDS11190.1	.	.	.	.	.	.	.	.	.	.	G	37	5.978571	0.97168	.	.	ENSG00000141034	ENST00000268719;ENST00000376345	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.89550	0.6747	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91176	0.4972	9	0.87932	D	0	-0.6678	20.6243	0.99512	0.0:0.0:1.0:0.0	.	178	Q8IVV7	CQ039_HUMAN	K	178;95	.	ENSP00000268719:E178K	E	+	1	0	C17orf39	17898199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.709000	0.84645	2.879000	0.98667	0.650000	0.86243	GAA		0.388	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132071.2	NM_024052		28	34	0	0	0	1	0	28	34				
TTN	7273	broad.mit.edu	37	2	179596285	179596285	+	Silent	SNP	G	G	A	rs397517484		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179596285G>A	ENST00000591111.1	-	57	16481	c.16257C>T	c.(16255-16257)atC>atT	p.I5419I	TTN_ENST00000589042.1_Silent_p.I5736I|TTN_ENST00000342992.6_Silent_p.I4492I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12239	Ig-like 35.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTACTCTCGATCTTCTTTA	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17206-17208)atC>atT		titin							37.0	37.0	37.0					2																	179596285		1858	4099	5957	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596285G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16257C>T	2.37:g.179596285G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I4492I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.I5419I	p.I5736I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		59	17432	-			5419			Ig-like 38.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.17208C>T																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	30	0	0	0	1	0	9	30				
CELA2A	63036	broad.mit.edu	37	1	15789927	15789927	+	Missense_Mutation	SNP	G	G	A	rs140151330	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15789927G>A	ENST00000359621.4	+	5	428	c.403G>A	c.(403-405)Gac>Aac	p.D135N		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	135	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTCCCTCACCGACAAGATCCA	0.602													G|||	8	0.00159744	0.0061	0.0	5008	,	,		19580	0.0		0.0	False		,,,				2504	0.0					ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(403-405)Gac>Aac		chymotrypsin-like elastase family, member 2A		G	ASN/ASP	4,4402	8.1+/-20.4	0,4,2199	164.0	124.0	138.0		403	-1.4	0.0	1	dbSNP_134	138	0,8594		0,0,4297	no	missense	CELA2A	NM_033440.2	23	0,4,6496	AA,AG,GG		0.0,0.0908,0.0308	benign	135/270	15789927	4,12996	2203	4297	6500	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15789927G>A		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.403G>A	1.37:g.15789927G>A	ENSP00000352639:p.Asp135Asn						p.D135N	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN			5	428	+			135			Peptidase S1.		B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.403G>A	CCDS157.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.857	0.946037	0.18356	9.08E-4	0.0	ENSG00000142615	ENST00000359621	D	0.93426	-3.22	3.97	-1.39	0.08997	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.551980	0.16437	U	0.214467	D	0.83949	0.5365	N	0.25060	0.705	0.09310	N	1	B	0.18166	0.026	B	0.17979	0.02	T	0.71009	-0.4716	10	0.36615	T	0.2	.	4.5887	0.12295	0.3509:0.1643:0.4848:0.0	.	135	P08217	CEL2A_HUMAN	N	135	ENSP00000352639:D135N	ENSP00000352639:D135N	D	+	1	0	CELA2A	15662514	0.000000	0.05858	0.003000	0.11579	0.386000	0.30323	0.421000	0.21280	-0.356000	0.08187	-0.657000	0.03884	GAC		0.602	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		38	94	0	0	0	1	0	38	94				
PAFAH1B1	5048	broad.mit.edu	37	17	2573541	2573541	+	Missense_Mutation	SNP	G	G	A	rs121434487		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:2573541G>A	ENST00000397195.5	+	6	935	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	PAFAH1B1_ENST00000451360.2_5'Flank|PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CGACCACAGCGGCAAGCTTCT	0.448																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11	GRCh37	CM004136	PAFAH1B1	M	rs121434487	c.(484-486)Ggc>Agc		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							162.0	154.0	157.0					17																	2573541		2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2573541G>A	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.484G>A	17.37:g.2573541G>A	ENSP00000380378:p.Gly162Ser					PAFAH1B1_ENST00000397193.3_3'UTR	p.G162S	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			6	935	+			162		G -> S (in LIS1; dbSNP:rs28936410).	Interaction with dynein and dynactin.			Missense_Mutation	SNP	ENST00000397195.5	37	c.484G>A	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640840	0.96693	.	.	ENSG00000007168	ENST00000397195	D	0.83673	-1.75	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	M	0.66439	2.03	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89698	0.3903	9	0.51188	T	0.08	.	19.4659	0.94939	0.0:0.0:1.0:0.0	rs28936410	162	P43034	LIS1_HUMAN	S	162	ENSP00000380378:G162S	ENSP00000380378:G162S	G	+	1	0	PAFAH1B1	2520291	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GGC		0.448	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		40	107	0	0	0	1	0	40	107				
CFAP61	26074	broad.mit.edu	37	20	20177339	20177339	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:20177339G>A	ENST00000245957.5	+	16	1792	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		572										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTACACCAAGTTCTTTCTGA	0.458																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1714-1716)aaG>aaA		chromosome 20 open reading frame 26							138.0	124.0	129.0					20																	20177339		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20177339G>A																												ENST00000245957.5:c.1716G>A	20.37:g.20177339G>A						C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	p.K572K	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1792	+			572					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.1716G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358189	0.24598	.	.	ENSG00000089101	ENST00000431753	.	.	.	5.83	3.45	0.39498	.	.	.	.	.	T	0.55609	0.1931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51872	-0.8650	4	.	.	.	.	6.7893	0.23692	0.3413:0.0:0.6587:0.0	.	.	.	.	N	112	.	.	S	+	2	0	C20orf26	20125339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.464000	0.53057	1.293000	0.44690	0.655000	0.94253	AGT		0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			26	44	0	0	0	1	0	26	44				
NOX3	50508	broad.mit.edu	37	6	155743877	155743877	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155743877G>T	ENST00000159060.2	-	10	1361	c.1259C>A	c.(1258-1260)tCt>tAt	p.S420Y		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	420					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GTACCATATAGATTTCAGAAG	0.498																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1258-1260)tCt>tAt		NADPH oxidase 3							150.0	140.0	143.0					6																	155743877		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743877G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1259C>A	6.37:g.155743877G>T	ENSP00000159060:p.Ser420Tyr						p.S420Y	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1361	-		Breast(66;0.0183)	420					Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1259C>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956182	0.73902	.	.	ENSG00000074771	ENST00000159060	D	0.95171	-3.63	5.81	5.81	0.92471	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000002	D	0.97539	0.9194	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97454	1.0030	10	0.66056	D	0.02	-25.9783	20.0755	0.97742	0.0:0.0:1.0:0.0	.	420	Q9HBY0	NOX3_HUMAN	Y	420	ENSP00000159060:S420Y	ENSP00000159060:S420Y	S	-	2	0	NOX3	155785569	1.000000	0.71417	0.941000	0.38009	0.353000	0.29299	9.476000	0.97823	2.747000	0.94245	0.643000	0.83706	TCT		0.498	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			42	69	1	0	6.48837e-15	1	8.49851e-15	42	69				
MAGEA6	4105	broad.mit.edu	37	X	151869775	151869775	+	Silent	SNP	C	C	T	rs368081573		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151869775C>T	ENST00000329342.5	+	3	690	c.465C>T	c.(463-465)tcC>tcT	p.S155S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	155	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAAGCTTCCGATTCCTTGC	0.552																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(463-465)tcC>tcT		melanoma antigen family A, 6		C	,	0,3834		0,0,1632,570	148.0	129.0	136.0		465,465	-1.2	0.0	X		136	1,6726		0,1,2427,1871	no	coding-synonymous,coding-synonymous	MAGEA6	NM_005363.2,NM_175868.1	,	0,1,4059,2441	TT,TC,CC,C		0.0149,0.0,0.0095	,	155/315,155/315	151869775	1,10560	2202	4299	6501	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869775C>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.465C>T	X.37:g.151869775C>T							p.S155S	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	690	+	Acute lymphoblastic leukemia(192;6.56e-05)		155			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.465C>T	CCDS14708.1																																																																																				0.552	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		46	126	0	0	0	1	0	46	126				
EIF4G3	8672	broad.mit.edu	37	1	21212755	21212755	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:21212755G>A	ENST00000264211.8	-	13	2389	c.2195C>T	c.(2194-2196)gCc>gTc	p.A732V	EIF4G3_ENST00000537738.1_Missense_Mutation_p.A222V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A732V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A738V|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A738V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A336V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A452V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	732	eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGCTTCCAGGCATTTTCTGC	0.418																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(2212-2214)gCc>gTc		eukaryotic translation initiation factor 4 gamma, 3							265.0	255.0	259.0					1																	21212755		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21212755G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2195C>T	1.37:g.21212755G>A	ENSP00000264211:p.Ala732Val					EIF4G3_ENST00000374935.3_Missense_Mutation_p.A452V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A732V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A738V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A336V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A732V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A222V	p.A738V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	17	2796	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	732			eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2213C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413527	0.96072	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.09538	3.42;3.42;3.27;2.97;3.41;3.1	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.36552	0.0971	M	0.79011	2.435	0.80722	D	1	D;D;D;D;P	0.76494	0.982;0.999;0.996;0.999;0.757	P;D;D;D;P	0.80764	0.697;0.945;0.99;0.994;0.566	T	0.09228	-1.0684	10	0.54805	T	0.06	-1.2075	19.1062	0.93296	0.0:0.0:1.0:0.0	.	927;452;336;738;732	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	V	732;928;732;452;222;738;336	ENSP00000264211:A732V;ENSP00000383274:A732V;ENSP00000364071:A452V;ENSP00000442010:A222V;ENSP00000364073:A738V;ENSP00000444693:A336V	ENSP00000264211:A732V	A	-	2	0	EIF4G3	21085342	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.420000	0.97426	2.571000	0.86741	0.655000	0.94253	GCC		0.418	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		15	152	0	0	0	1	0	15	152				
CCDC73	493860	broad.mit.edu	37	11	32637489	32637489	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:32637489C>T	ENST00000335185.5	-	15	1415	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	458										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGGTTACCATCTATAATTATT	0.269																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(1372-1374)Gat>Aat		coiled-coil domain containing 73							30.0	28.0	28.0					11																	32637489		1768	4031	5799	SO:0001583	missense	493860							g.chr11:32637489C>T	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1372G>A	11.37:g.32637489C>T	ENSP00000335325:p.Asp458Asn					CCDC73_ENST00000534415.1_5'UTR	p.D458N	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			15	1415	-	Breast(20;0.112)		458					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.1372G>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687047	0.29962	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.34	4.39	0.52855	.	0.742191	0.12444	N	0.468362	T	0.32941	0.0846	N	0.08118	0	0.80722	D	1	B;B	0.18310	0.027;0.007	B;B	0.18263	0.021;0.015	T	0.13045	-1.0524	9	0.59425	D	0.04	.	8.966	0.35877	0.0:0.8895:0.0:0.1105	.	448;458	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	N	458	.	ENSP00000335325:D458N	D	-	1	0	CCDC73	32594065	0.022000	0.18835	0.443000	0.26883	0.360000	0.29518	0.125000	0.15749	1.306000	0.44926	0.585000	0.79938	GAT		0.269	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		6	17	0	0	0	1	0	6	17				
TMEM63B	55362	broad.mit.edu	37	6	44117685	44117685	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44117685T>C	ENST00000259746.9	+	16	1686	c.1503T>C	c.(1501-1503)ttT>ttC	p.F501F	TMEM63B_ENST00000323267.6_Silent_p.F501F			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	501					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CAGCCTTCTTTGAAGCCCACT	0.597																																						ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(1501-1503)ttT>ttC		transmembrane protein 63B							189.0	135.0	154.0					6																	44117685		2203	4300	6503	SO:0001819	synonymous_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44117685T>C	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1503T>C	6.37:g.44117685T>C						TMEM63B_ENST00000323267.6_Silent_p.F501F	p.F501F			Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		16	1686	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		501					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	c.1503T>C	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265471	0.23136	.	.	ENSG00000137216	ENST00000371893	.	.	.	4.58	-6.31	0.02001	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57219	-0.7849	4	.	.	.	.	11.7517	0.51852	0.1061:0.6003:0.0:0.2936	.	.	.	.	S	430	.	.	L	+	2	0	TMEM63B	44225663	0.000000	0.05858	0.963000	0.40424	0.995000	0.86356	-1.893000	0.01609	-0.892000	0.03935	0.408000	0.27601	TTG		0.597	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		5	21	0	0	0	1	0	5	21				
SVIL	6840	broad.mit.edu	37	10	29769557	29769557	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:29769557G>A	ENST00000355867.4	-	29	6038	c.5286C>T	c.(5284-5286)ttC>ttT	p.F1762F	PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Silent_p.F676F|SVIL_ENST00000375398.2_Silent_p.F1762F|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.F1336F|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000538146.1_Silent_p.F554F|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1762					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCTATAGTCGAATTCCAGGA	0.557																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5284-5286)ttC>ttT		supervillin							107.0	96.0	100.0					10																	29769557		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29769557G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5286C>T	10.37:g.29769557G>A						PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Silent_p.F676F|SVIL_ENST00000375400.3_Silent_p.F1336F|SVIL_ENST00000355867.4_Silent_p.F1762F|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000538146.1_Silent_p.F554F|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000423223.1_RNA	p.F1762F			O95425	SVIL_HUMAN			31	5735	-		Breast(68;0.103)	1762					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.5286C>T	CCDS7164.1																																																																																				0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			38	65	0	0	0	1	0	38	65				
PCDH15	65217	broad.mit.edu	37	10	55626542	55626542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55626542C>A	ENST00000320301.6	-	27	3971	c.3577G>T	c.(3577-3579)Gaa>Taa	p.E1193*	PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1171*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1198*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.E1200*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E804*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1122*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1156*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1200*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1193	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAAATCCTTCTTTTCCCTCT	0.378										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3598-3600)Gaa>Taa		protocadherin-related 15							163.0	147.0	152.0					10																	55626542		2203	4300	6503	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55626542C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3577G>T	10.37:g.55626542C>A	ENSP00000322604:p.Glu1193*	HNSCC(58;0.16)				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1198*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1200*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E804*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1122*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1171*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1156*	p.E1200*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			28	3992	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1193			Cadherin 11.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.3598G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	46	12.478088	0.99671	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.81	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.3884	0.66961	0.0:0.9285:0.0:0.0715	.	.	.	.	X	1200;1198;1193;1193;804;1200;1156;1193;1171;1193;1193;1198;1122	.	ENSP00000322604:E1193X	E	-	1	0	PCDH15	55296548	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.763000	0.68818	1.462000	0.47948	0.655000	0.94253	GAA		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		25	29	1	0	4.26978e-12	1	5.35675e-12	25	29				
KRT19	3880	broad.mit.edu	37	17	39681143	39681143	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39681143G>A	ENST00000361566.3	-	3	672	c.612C>T	c.(610-612)atC>atT	p.I204I	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	204	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.L195fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCAGGCCTTCGATCTGCATCT	0.607																																						ENST00000361566.3																			1	Deletion - Frameshift(1)	p.L195fs*3(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(610-612)atC>atT		keratin 19							127.0	137.0	133.0					17																	39681143		2203	4300	6503	SO:0001819	synonymous_variant	3880							g.chr17:39681143G>A		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.612C>T	17.37:g.39681143G>A							p.I204I	NM_002276.4	NP_002267.2					3	672	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	ENST00000361566.3	37	c.612C>T	CCDS11399.1																																																																																				0.607	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		60	93	0	0	0	1	0	60	93				
DPYD	1806	broad.mit.edu	37	1	98015142	98015142	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:98015142A>G	ENST00000370192.3	-	12	1598	c.1498T>C	c.(1498-1500)Tct>Cct	p.S500P		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	500					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ATGTACCAAGAAGCTTGCTTT	0.388																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(1498-1500)Tct>Cct		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						176.0	148.0	158.0					1																	98015142		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98015142A>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1498T>C	1.37:g.98015142A>G	ENSP00000359211:p.Ser500Pro						p.S500P	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	12	1598	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	500					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1498T>C	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368441	0.61513	.	.	ENSG00000188641	ENST00000370192	D	0.82711	-1.64	6.16	6.16	0.99307	.	0.052912	0.85682	D	0.000000	D	0.90676	0.7075	M	0.89287	3.02	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	D	0.92184	0.5754	10	0.72032	D	0.01	-24.9563	16.8061	0.85666	1.0:0.0:0.0:0.0	.	500	Q12882	DPYD_HUMAN	P	500	ENSP00000359211:S500P	ENSP00000359211:S500P	S	-	1	0	DPYD	97787730	1.000000	0.71417	0.993000	0.49108	0.528000	0.34623	6.965000	0.76067	2.367000	0.80283	0.528000	0.53228	TCT		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		20	28	0	0	0	1	0	20	28				
TPTE	7179	broad.mit.edu	37	21	10942994	10942994	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10942994C>T	ENST00000361285.4	-	12	922	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	TPTE_ENST00000298232.7_Missense_Mutation_p.R180Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R160Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	198					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATAATAAGTCGTAGAAGTCG	0.308																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(538-540)cGa>cAa		transmembrane phosphatase with tensin homology							77.0	71.0	73.0					21																	10942994		2203	4298	6501	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942994C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.593G>A	21.37:g.10942994C>T	ENSP00000355208:p.Arg198Gln					TPTE_ENST00000342420.5_Missense_Mutation_p.R160Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R198Q	p.R180Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	906	-			198					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.539G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	14.50	2.555021	0.45487	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98617	-5.03;-5.03;-5.03	2.07	2.07	0.26955	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98729	0.9573	M	0.83312	2.635	0.50813	D	0.999891	D;D;D	0.71674	0.995;0.995;0.998	P;P;D	0.63877	0.868;0.868;0.919	D	0.98519	1.0622	10	0.87932	D	0	-4.2096	10.2257	0.43225	0.0:1.0:0.0:0.0	.	160;180;198	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	180;198;160	ENSP00000298232:R180Q;ENSP00000355208:R198Q;ENSP00000344441:R160Q	ENSP00000298232:R180Q	R	-	2	0	TPTE	9964865	1.000000	0.71417	0.137000	0.22149	0.052000	0.14988	4.994000	0.63901	1.470000	0.48102	0.194000	0.17425	CGA		0.308	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	44	0	0	0	1	0	6	44				
PXDNL	137902	broad.mit.edu	37	8	52469436	52469436	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52469436T>G	ENST00000356297.4	-	4	444	c.344A>C	c.(343-345)aAg>aCg	p.K115T	PXDNL_ENST00000543296.1_Missense_Mutation_p.K115T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	115					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAATGTTTGCTTATCTAGTGC	0.284																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(343-345)aAg>aCg		peroxidasin homolog (Drosophila)-like							68.0	66.0	66.0					8																	52469436		1804	4064	5868	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52469436T>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.344A>C	8.37:g.52469436T>G	ENSP00000348645:p.Lys115Thr					PXDNL_ENST00000543296.1_Missense_Mutation_p.K115T	p.K115T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			4	444	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	115					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.344A>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	9.605	1.129733	0.21041	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.51817	0.69;0.69	4.8	3.69	0.42338	.	.	.	.	.	T	0.33673	0.0871	L	0.28608	0.87	0.18873	N	0.999988	P	0.36183	0.542	B	0.38755	0.281	T	0.11665	-1.0578	9	0.15499	T	0.54	.	7.6744	0.28478	0.0:0.0:0.291:0.709	.	115	A1KZ92	PXDNL_HUMAN	T	115	ENSP00000348645:K115T;ENSP00000444865:K115T	ENSP00000348645:K115T	K	-	2	0	PXDNL	52631989	0.025000	0.19082	0.855000	0.33649	0.921000	0.55340	0.592000	0.23984	1.800000	0.52685	0.528000	0.53228	AAG		0.284	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		15	24	0	0	0	1	0	15	24				
STKLD1	169436	broad.mit.edu	37	9	136268898	136268898	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136268898G>T	ENST00000371957.3	+	15	1656	c.1549G>T	c.(1549-1551)Gat>Tat	p.D517Y	C9orf96_ENST00000371955.1_Missense_Mutation_p.D50Y	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		517							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTACCCTGCGGATGGGGAAAT	0.652																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(1549-1551)Gat>Tat		chromosome 9 open reading frame 96							44.0	43.0	43.0					9																	136268898		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136268898G>T																												ENST00000371957.3:c.1549G>T	9.37:g.136268898G>T	ENSP00000361025:p.Asp517Tyr					C9orf96_ENST00000371955.1_Missense_Mutation_p.D50Y	p.D517Y	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	15	1656	+			517					Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.1549G>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043544	0.36085	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.58358	0.34;0.46	4.6	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);	0.079916	0.51477	D	0.000096	T	0.66982	0.2845	L	0.59436	1.845	0.09310	N	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.59500	-0.7443	10	0.66056	D	0.02	-31.8761	12.7755	0.57445	0.0:0.0:1.0:0.0	.	517	Q8NE28	SGK71_HUMAN	Y	517;50	ENSP00000361025:D517Y;ENSP00000361023:D50Y	ENSP00000361023:D50Y	D	+	1	0	C9orf96	135258719	0.339000	0.24784	0.034000	0.17996	0.075000	0.17131	1.594000	0.36697	2.354000	0.79902	0.561000	0.74099	GAT		0.652	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			10	22	1	0	0.00621372	1	0.0064192	10	22				
C16orf62	57020	broad.mit.edu	37	16	19656250	19656250	+	Missense_Mutation	SNP	G	G	T	rs182792252		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19656250G>T	ENST00000251143.5	+	23	1920	c.1908G>T	c.(1906-1908)ttG>ttT	p.L636F	C16orf62_ENST00000448695.1_Missense_Mutation_p.L486F|C16orf62_ENST00000417362.2_Missense_Mutation_p.L569F|C16orf62_ENST00000543152.1_Missense_Mutation_p.L385F|C16orf62_ENST00000542263.1_Missense_Mutation_p.L658F|C16orf62_ENST00000438132.3_Missense_Mutation_p.L725F			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	636						integral component of membrane (GO:0016021)		p.L636F(1)|p.L725F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTCATATTTGATTAATGGAT	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		16383	0.0		0.001	False		,,,				2504	0.0					ENST00000438132.3																			2	Substitution - Missense(2)	p.L636F(1)|p.L725F(1)	breast(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2173-2175)ttG>ttT		chromosome 16 open reading frame 62							96.0	101.0	99.0					16																	19656250		2196	4300	6496	SO:0001583	missense	57020					integral to membrane		g.chr16:19656250G>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1908G>T	16.37:g.19656250G>T	ENSP00000251143:p.Leu636Phe					C16orf62_ENST00000251143.5_Missense_Mutation_p.L636F|C16orf62_ENST00000448695.1_Missense_Mutation_p.L486F|C16orf62_ENST00000542263.1_Missense_Mutation_p.L658F|C16orf62_ENST00000417362.2_Missense_Mutation_p.L569F|C16orf62_ENST00000543152.1_Missense_Mutation_p.L385F	p.L725F	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			23	2223	+			636					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.2175G>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.36	3.606505	0.66445	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.9	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	M	0.85945	2.785	0.80722	D	1	P;D	0.89917	0.518;1.0	B;D	0.85130	0.302;0.997	T	0.76948	-0.2770	9	.	.	.	-19.3839	10.5697	0.45194	0.083:0.1406:0.7764:0.0	.	658;636	F5H7K1;Q7Z3J2	.;CP062_HUMAN	F	725;658;636;569;486	ENSP00000400815:L725F;ENSP00000442468:L658F;ENSP00000251143:L636F;ENSP00000395973:L569F;ENSP00000398009:L486F	.	L	+	3	2	C16orf62	19563751	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.744000	0.47450	2.806000	0.96561	0.655000	0.94253	TTG		0.318	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		16	30	1	0	3.35478e-16	1	4.45534e-16	16	30				
LYN	4067	broad.mit.edu	37	8	56882318	56882318	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56882318T>C	ENST00000519728.1	+	10	1312	c.1016T>C	c.(1015-1017)gTg>gCg	p.V339A	LYN_ENST00000520220.2_Missense_Mutation_p.V318A|LYN_ENST00000420292.1_3'UTR	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GGTGGCAAAGTGCTGCTTCCA	0.428																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(952-954)gTg>gCg		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							167.0	163.0	164.0					8																	56882318		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56882318T>C	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1016T>C	8.37:g.56882318T>C	ENSP00000428924:p.Val339Ala					LYN_ENST00000519728.1_Missense_Mutation_p.V339A|LYN_ENST00000420292.1_3'UTR	p.V318A	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		10	1227	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	339			Protein kinase.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.953T>C	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259876	0.80246	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.11712	2.75;2.75	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.268088	0.37955	N	0.001880	T	0.19967	0.0480	L	0.55103	1.725	0.46260	D	0.998955	B;B	0.27166	0.17;0.008	B;B	0.39590	0.304;0.22	T	0.01879	-1.1255	10	0.87932	D	0	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	409;339	Q6NUK7;P07948	.;LYN_HUMAN	A	339;318	ENSP00000428924:V339A;ENSP00000428424:V318A	ENSP00000428924:V339A	V	+	2	0	LYN	57044872	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	8.023000	0.88764	2.281000	0.76405	0.528000	0.53228	GTG		0.428	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		21	52	0	0	0	1	0	21	52				
GPR112	139378	broad.mit.edu	37	X	135430316	135430316	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135430316G>T	ENST00000394143.1	+	6	4742	c.4451G>T	c.(4450-4452)aGg>aTg	p.R1484M	GPR112_ENST00000370652.1_Missense_Mutation_p.R1484M|GPR112_ENST00000394141.1_Missense_Mutation_p.R1279M|GPR112_ENST00000412101.1_Missense_Mutation_p.R1279M|GPR112_ENST00000287534.4_Missense_Mutation_p.R1421M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1484					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCTCCGACAGGATCACTACA	0.443																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4450-4452)aGg>aTg		G protein-coupled receptor 112							99.0	97.0	98.0					X																	135430316		2203	4299	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430316G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4451G>T	X.37:g.135430316G>T	ENSP00000377699:p.Arg1484Met					GPR112_ENST00000287534.4_Missense_Mutation_p.R1421M|GPR112_ENST00000370652.1_Missense_Mutation_p.R1484M|GPR112_ENST00000412101.1_Missense_Mutation_p.R1279M|GPR112_ENST00000394141.1_Missense_Mutation_p.R1279M	p.R1484M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4742	+	Acute lymphoblastic leukemia(192;0.000127)		1484					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4451G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	13.67	2.305652	0.40795	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.69;1.55	2.81	0.936	0.19488	.	.	.	.	.	T	0.26484	0.0647	L	0.27053	0.805	0.09310	N	1	P;P;P	0.49447	0.924;0.924;0.875	P;P;B	0.50192	0.634;0.634;0.431	T	0.12016	-1.0564	9	0.62326	D	0.03	.	5.4267	0.16429	0.3195:0.0:0.6805:0.0	.	1421;1279;1484	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	1484;1484;1279;1421;1279	ENSP00000377699:R1484M;ENSP00000359686:R1484M;ENSP00000416526:R1279M;ENSP00000287534:R1421M;ENSP00000377697:R1279M	ENSP00000287534:R1421M	R	+	2	0	GPR112	135257982	0.002000	0.14202	0.001000	0.08648	0.222000	0.24845	0.983000	0.29552	-0.015000	0.14150	0.464000	0.42555	AGG		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			13	114	1	0	7.93312e-07	1	8.98086e-07	13	114				
NUP210L	91181	broad.mit.edu	37	1	154098814	154098814	+	Silent	SNP	G	G	T	rs368439825	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:154098814G>T	ENST00000368559.3	-	10	1382	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	NUP210L_ENST00000271854.3_Silent_p.T437T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	437					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AAATGATGGAGGTCAGGGATG	0.393																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1309-1311)acC>acA		nucleoporin 210kDa-like							170.0	151.0	157.0					1																	154098814		1897	4118	6015	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154098814G>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1311C>A	1.37:g.154098814G>T						NUP210L_ENST00000271854.3_Silent_p.T437T	p.T437T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		10	1382	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		437					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.1311C>A	CCDS41399.1																																																																																				0.393	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		21	64	1	0	7.45023e-12	1	9.31775e-12	21	64				
IGLV3-22	28795	broad.mit.edu	37	22	23047257	23047257	+	RNA	SNP	G	G	A	rs374444373		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:23047257G>A	ENST00000390307.2	+	0	359									immunoglobulin lambda variable 3-22 (gene/pseudogene)																		GGTCCTGACCGAAGACGAGGC	0.522																																						ENST00000390307.2																			0															G		2,4018		0,2,2008	44.0	47.0	46.0			0.2	0.0	22		46	1,8375		0,1,4187	no	intergenic				0,3,6195	AA,AG,GG		0.0119,0.0498,0.0242			23047257	3,12393	2010	4188	6198			0							g.chr22:23047257G>A	Z73666		22q11.2	2012-02-08	2008-09-12		ENSG00000211661	ENSG00000211661		"""Immunoglobulins / IGL locus"""	5906	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-22"""				Standard	NG_000002		Approved				OTTHUMG00000151229		22.37:g.23047257G>A														0	359	+									RNA	SNP	ENST00000390307.2	37																																																																																						0.522	IGLV3-22-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321833.2	NG_000002		14	40	0	0	0	1	0	14	40				
SCN11A	11280	broad.mit.edu	37	3	38936224	38936224	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38936224C>T	ENST00000302328.3	-	15	2833	c.2635G>A	c.(2635-2637)Gac>Aac	p.D879N	SCN11A_ENST00000456224.3_Missense_Mutation_p.D879N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D879N|SCN11A_ENST00000444237.2_Missense_Mutation_p.D879N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	879					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAATGATGTCTTTGCTTTGT	0.507																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2635-2637)Gac>Aac		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						116.0	111.0	112.0					3																	38936224		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936224C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2635G>A	3.37:g.38936224C>T	ENSP00000307599:p.Asp879Asn					SCN11A_ENST00000444237.2_Missense_Mutation_p.D879N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D879N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D879N	p.D879N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	2833	-			879					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2635G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003210	0.74932	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.68	5.68	0.88126	Sodium ion transport-associated (1);	1.347400	0.04980	N	0.465411	D	0.85435	0.5696	L	0.39898	1.24	0.34132	D	0.665395	P	0.47191	0.891	P	0.51550	0.673	T	0.74665	-0.3589	10	0.15952	T	0.53	.	16.9345	0.86200	0.0:1.0:0.0:0.0	.	879	Q9UI33	SCNBA_HUMAN	N	879	ENSP00000307599:D879N;ENSP00000400945:D879N;ENSP00000416757:D879N;ENSP00000408028:D879N	ENSP00000307599:D879N	D	-	1	0	SCN11A	38911228	0.002000	0.14202	0.196000	0.23383	0.032000	0.12392	0.764000	0.26532	2.677000	0.91161	0.650000	0.86243	GAC		0.507	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		24	48	0	0	0	1	0	24	48				
CACNA1D	776	broad.mit.edu	37	3	53764549	53764549	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53764549G>T	ENST00000350061.5	+	16	2813	c.2302G>T	c.(2302-2304)Gaa>Taa	p.E768*	CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.E788*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E768*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	768					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGAAAGAAGAAGCGGAAGA	0.453																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2362-2364)Gaa>Taa		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						128.0	123.0	125.0					3																	53764549		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53764549G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2302G>T	3.37:g.53764549G>T	ENSP00000288133:p.Glu768*					CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E768*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E768*	p.E788*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	17	2480	+			768					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.2362G>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	42	9.680320	0.99237	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.	.	.	5.8	5.8	0.92144	.	0.115277	0.39985	N	0.001209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	.	.	.	X	768;788;768;461	.	ENSP00000288139:E788X	E	+	1	0	CACNA1D	53739589	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.992000	0.88273	2.735000	0.93741	0.655000	0.94253	GAA		0.453	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		15	39	1	0	1.05317e-09	1	1.27574e-09	15	39				
ISG20	3669	broad.mit.edu	37	15	89198710	89198710	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89198710C>T	ENST00000306072.5	+	4	852	c.494C>T	c.(493-495)tCc>tTc	p.S165F	ISG20_ENST00000560741.1_Missense_Mutation_p.S165F|ISG20_ENST00000560746.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	165					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			TATCAAATCTCCCAGAGAATC	0.587																																						ENST00000306072.5																			0				large_intestine(1)|lung(3)|prostate(1)	5						c.(493-495)tCc>tTc		interferon stimulated exonuclease gene 20kDa							54.0	57.0	56.0					15																	89198710		2200	4299	6499	SO:0001583	missense	3669				cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	g.chr15:89198710C>T	X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"""interferon stimulated gene (20kD)"""			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.494C>T	15.37:g.89198710C>T	ENSP00000306565:p.Ser165Phe					ISG20_ENST00000560741.1_Missense_Mutation_p.S165F|ISG20_ENST00000560746.1_3'UTR	p.S165F	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.12)		4	852	+	Lung NSC(78;0.0554)|all_lung(78;0.103)		165					O00441|O00586	Missense_Mutation	SNP	ENST00000306072.5	37	c.494C>T	CCDS10345.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383810	0.61845	.	.	ENSG00000172183	ENST00000306072;ENST00000546338	T	0.33654	1.4	4.1	4.1	0.47936	Exonuclease (1);Ribonuclease H-like (1);	0.713456	0.13070	N	0.416212	T	0.40956	0.1138	N	0.25286	0.73	0.46849	D	0.999229	D	0.76494	0.999	D	0.67548	0.952	T	0.03384	-1.1042	10	0.14252	T	0.57	.	12.1937	0.54284	0.0:1.0:0.0:0.0	.	165	Q96AZ6	ISG20_HUMAN	F	165;173	ENSP00000306565:S165F	ENSP00000306565:S165F	S	+	2	0	ISG20	86999714	0.983000	0.35010	0.087000	0.20705	0.382000	0.30200	3.226000	0.51254	2.004000	0.58718	0.467000	0.42956	TCC		0.587	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309069.2	NM_002201		20	33	0	0	0	1	0	20	33				
DHX36	170506	broad.mit.edu	37	3	154018402	154018402	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154018402T>G	ENST00000496811.1	-	11	1522	c.1442A>C	c.(1441-1443)tAc>tCc	p.Y481S	DHX36_ENST00000544526.1_Missense_Mutation_p.Y481S|DHX36_ENST00000308361.6_Missense_Mutation_p.Y481S|DHX36_ENST00000329463.5_Missense_Mutation_p.Y481S	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	481	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAAAACAATGTATCGGATGAG	0.299																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1441-1443)tAc>tCc		DEAH (Asp-Glu-Ala-His) box polypeptide 36							113.0	109.0	111.0					3																	154018402		2203	4298	6501	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018402T>G	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1442A>C	3.37:g.154018402T>G	ENSP00000417078:p.Tyr481Ser					DHX36_ENST00000544526.1_Missense_Mutation_p.Y481S|DHX36_ENST00000329463.5_Missense_Mutation_p.Y481S|DHX36_ENST00000308361.6_Missense_Mutation_p.Y481S	p.Y481S	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		11	1522	-			481			Helicase C-terminal.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1442A>C	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537178	0.65085	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03386	4.12;4.05;3.95;3.95;4.13	5.75	5.75	0.90469	Helicase, C-terminal (1);	0.321537	0.41001	D	0.000963	T	0.07458	0.0188	L	0.48260	1.515	0.53005	D	0.999968	B;B;B	0.30763	0.294;0.294;0.194	B;B;B	0.37650	0.255;0.255;0.13	T	0.19321	-1.0309	10	0.56958	D	0.05	.	16.3534	0.83225	0.0:0.0:0.0:1.0	.	481;481;481	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	S	481;481;481;481;395	ENSP00000417078:Y481S;ENSP00000309296:Y481S;ENSP00000444247:Y481S;ENSP00000330113:Y481S;ENSP00000419862:Y395S	ENSP00000309296:Y481S	Y	-	2	0	DHX36	155501096	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	7.483000	0.81158	2.311000	0.77944	0.528000	0.53228	TAC		0.299	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		13	24	0	0	0	1	0	13	24				
ANKRD13C	81573	broad.mit.edu	37	1	70742520	70742520	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:70742520C>T	ENST00000370944.4	-	10	1536	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.R373Q	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	408					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGACTGTCTTCGAATCGGCTG	0.313																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(1222-1224)cGa>cAa		ankyrin repeat domain 13C							59.0	63.0	62.0					1																	70742520		2203	4299	6502	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70742520C>T		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1223G>A	1.37:g.70742520C>T	ENSP00000359982:p.Arg408Gln					ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.R373Q	p.R408Q	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			10	1536	-			408					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.1223G>A	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297406	0.81025	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.43294	0.95;0.95	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.981;0.989	T	0.59590	-0.7426	10	0.46703	T	0.11	-0.5739	18.2515	0.90005	0.0:1.0:0.0:0.0	.	373;408	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	Q	408;373	ENSP00000359982:R408Q;ENSP00000262346:R373Q	ENSP00000262346:R373Q	R	-	2	0	ANKRD13C	70515108	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	7.109000	0.77062	2.564000	0.86499	0.563000	0.77884	CGA		0.313	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		22	29	0	0	0	1	0	22	29				
MTRR	4552	broad.mit.edu	37	5	7873611	7873611	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7873611C>A	ENST00000264668.2	+	3	366	c.336C>A	c.(334-336)ttC>ttA	p.F112L	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Intron|MTRR_ENST00000440940.2_Missense_Mutation_p.F85L	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	112	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CGGTTGATTTCTTTGCTCACC	0.448																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(334-336)ttC>ttA		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						144.0	148.0	147.0					5																	7873611		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7873611C>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.336C>A	5.37:g.7873611C>A	ENSP00000264668:p.Phe112Leu					MTRR_ENST00000440940.2_Missense_Mutation_p.F85L|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Intron	p.F112L	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			3	366	+			112			Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.336C>A	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448741	0.26074	.	.	ENSG00000124275	ENST00000264668;ENST00000440940;ENST00000502550;ENST00000512217	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.67	2.82	0.32997	Flavodoxin/nitric oxide synthase (2);	0.625524	0.17076	N	0.187966	T	0.44871	0.1314	N	0.12853	0.265	0.09310	N	0.999999	B	0.13145	0.007	B	0.12156	0.007	T	0.21965	-1.0230	10	0.11485	T	0.65	-5.7349	5.3155	0.15852	0.0:0.5669:0.1513:0.2818	.	112	Q9UBK8	MTRR_HUMAN	L	112;85;85;85	ENSP00000264668:F112L;ENSP00000402510:F85L;ENSP00000424599:F85L;ENSP00000421318:F85L	ENSP00000264668:F112L	F	+	3	2	MTRR	7926611	0.012000	0.17670	0.075000	0.20258	0.997000	0.91878	0.545000	0.23268	0.691000	0.31592	0.655000	0.94253	TTC		0.448	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			30	55	1	0	5.77227e-19	1	7.83808e-19	30	55				
C8B	732	broad.mit.edu	37	1	57415369	57415369	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:57415369T>C	ENST00000371237.4	-	6	789	c.723A>G	c.(721-723)gaA>gaG	p.E241E	C8B_ENST00000543257.1_Silent_p.E189E|C8B_ENST00000535057.1_Silent_p.E179E	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	241	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGACATTGCGTTCAAAATCTG	0.333																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(565-567)gaA>gaG		complement component 8, beta polypeptide							88.0	86.0	87.0					1																	57415369		2202	4299	6501	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57415369T>C	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.723A>G	1.37:g.57415369T>C						C8B_ENST00000371237.4_Silent_p.E241E|C8B_ENST00000535057.1_Silent_p.E179E	p.E189E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			7	1133	-			241			MACPF.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.567A>G	CCDS30730.1																																																																																				0.333	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			10	20	0	0	0	1	0	10	20				
TNFSF18	8995	broad.mit.edu	37	1	173020022	173020022	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173020022G>T	ENST00000404377.3	-	1	81	c.81C>A	c.(79-81)caC>caA	p.H27Q	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.H5Q	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	27					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TATTTTCCAAGTGGCTCAAAC	0.383																																						ENST00000404377.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						c.(79-81)caC>caA		tumor necrosis factor (ligand) superfamily, member 18							77.0	75.0	75.0					1																	173020022		2203	4300	6503	SO:0001583	missense	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173020022G>T	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"""Tumor necrosis factor (ligand) superfamily"""	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.81C>A	1.37:g.173020022G>T	ENSP00000385470:p.His27Gln					TNFSF18_ENST00000239468.2_Missense_Mutation_p.H5Q|RP1-15D23.2_ENST00000432694.1_RNA	p.H27Q	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN			1	81	-			27					A9IQG8|O95852|Q6ISV1	Missense_Mutation	SNP	ENST00000404377.3	37	c.81C>A	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943322	0.53079	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	.	.	.	5.3	4.32	0.51571	.	0.556209	0.16257	N	0.222457	T	0.13970	0.0338	N	0.19112	0.55	0.24148	N	0.995701	B	0.22800	0.075	B	0.14023	0.01	T	0.09037	-1.0693	9	0.59425	D	0.04	-4.0873	10.8432	0.46728	0.0:0.2443:0.7557:0.0	.	27	Q9UNG2	TNF18_HUMAN	Q	27;5	.	ENSP00000239468:H5Q	H	-	3	2	TNFSF18	171286645	0.992000	0.36948	0.545000	0.28153	0.919000	0.55068	2.522000	0.45572	2.645000	0.89757	0.591000	0.81541	CAC		0.383	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092		16	15	1	0	0.000308642	1	0.000328443	16	15				
RPL12P38	645688	broad.mit.edu	37	17	58512722	58512722	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58512722C>T	ENST00000588627.1	-	0	635									ribosomal protein L12 pseudogene 38																		CAGACAACCTCGCGGATCTTT	0.512																																						ENST00000588627.1																			0																																																			0							g.chr17:58512722C>T			17q23.2	2013-01-23			ENSG00000213228	ENSG00000213228			36838	pseudogene	pseudogene						19123937	Standard	NG_010298		Approved				OTTHUMG00000157897		17.37:g.58512722C>T														0	635	-									RNA	SNP	ENST00000588627.1	37																																																																																						0.512	RPL12P38-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000449464.1	NG_010298		12	13	0	0	0	1	0	12	13				
APP	351	broad.mit.edu	37	21	27347537	27347537	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:27347537A>G	ENST00000346798.3	-	11	1337	c.1304T>C	c.(1303-1305)tTc>tCc	p.F435S	APP_ENST00000439274.2_Missense_Mutation_p.F379S|APP_ENST00000358918.3_Missense_Mutation_p.F435S|APP_ENST00000348990.5_Missense_Mutation_p.F360S|APP_ENST00000357903.3_Missense_Mutation_p.F416S|APP_ENST00000354192.3_Missense_Mutation_p.F304S|APP_ENST00000448388.2_Missense_Mutation_p.F325S|APP_ENST00000359726.3_Missense_Mutation_p.F379S|APP_ENST00000440126.3_Missense_Mutation_p.F411S	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	435					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TTTCTCCTGGAAATGCTGCCA	0.453																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1303-1305)tTc>tCc		amyloid beta (A4) precursor protein							118.0	94.0	102.0					21																	27347537		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27347537A>G	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1304T>C	21.37:g.27347537A>G	ENSP00000284981:p.Phe435Ser					APP_ENST00000448388.2_Missense_Mutation_p.F325S|APP_ENST00000348990.5_Missense_Mutation_p.F360S|APP_ENST00000357903.3_Missense_Mutation_p.F416S|APP_ENST00000440126.3_Missense_Mutation_p.F411S|APP_ENST00000346798.3_Missense_Mutation_p.F435S|APP_ENST00000354192.3_Missense_Mutation_p.F304S|APP_ENST00000359726.3_Missense_Mutation_p.F379S|APP_ENST00000439274.2_Missense_Mutation_p.F379S	p.F435S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			11	1503	-		Breast(209;0.00295)	435					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1304T>C	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333479	0.81801	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.42	4.42	0.53409	Amyloidogenic glycoprotein, E2 domain (2);	0.044308	0.85682	D	0.000000	T	0.80819	0.4696	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.81914	0.985;0.985;0.995;0.974;0.991;0.991;0.994	D	0.84606	0.0675	10	0.72032	D	0.01	-19.0097	14.3667	0.66810	1.0:0.0:0.0:0.0	.	325;379;411;304;360;416;435	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	S	435;304;360;416;435;379;325;411;379;22	ENSP00000284981:F435S;ENSP00000346129:F304S;ENSP00000345463:F360S;ENSP00000350578:F416S;ENSP00000351796:F435S;ENSP00000352760:F379S;ENSP00000388538:F325S;ENSP00000387483:F411S;ENSP00000398879:F379S;ENSP00000397795:F22S	ENSP00000284981:F435S	F	-	2	0	APP	26269408	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.709000	0.91379	2.220000	0.72140	0.383000	0.25322	TTC		0.453	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		16	41	0	0	0	1	0	16	41				
PYGM	5837	broad.mit.edu	37	11	64527344	64527344	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64527344C>A	ENST00000164139.3	-	1	425	c.27G>T	c.(25-27)gaG>gaT	p.E9D	PYGM_ENST00000377432.3_Missense_Mutation_p.E9D	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	9					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTTTCTTTTCTCTTGGTCTG	0.597																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(25-27)gaG>gaT		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						107.0	103.0	104.0					11																	64527344		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64527344C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.27G>T	11.37:g.64527344C>A	ENSP00000164139:p.Glu9Asp					PYGM_ENST00000377432.3_Missense_Mutation_p.E9D	p.E9D	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			1	425	-			9					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.27G>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950208	0.34377	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93763	-3.13;-3.28	5.41	-4.43	0.03568	.	0.310111	0.27836	N	0.017652	T	0.79678	0.4487	N	0.11651	0.15	0.40176	D	0.977231	B;B	0.06786	0.001;0.001	B;B	0.12837	0.002;0.008	T	0.55315	-0.8160	10	0.26408	T	0.33	-15.2733	5.0065	0.14291	0.2756:0.243:0.4097:0.0717	.	9;9	A6NDY6;P11217	.;PYGM_HUMAN	D	9	ENSP00000366650:E9D;ENSP00000164139:E9D	ENSP00000164139:E9D	E	-	3	2	PYGM	64283920	0.156000	0.22821	0.948000	0.38648	0.630000	0.37929	-0.521000	0.06245	-0.778000	0.04566	-0.175000	0.13238	GAG		0.597	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		41	90	1	0	4.67007e-22	1	6.4791e-22	41	90				
ZNF652	22834	broad.mit.edu	37	17	47394794	47394794	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:47394794C>A	ENST00000362063.2	-	2	612	c.294G>T	c.(292-294)gaG>gaT	p.E98D	ZNF652_ENST00000430262.2_Missense_Mutation_p.E98D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	98	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CATCAGAATTCTCCCGGTCTT	0.428																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(292-294)gaG>gaT		zinc finger protein 652							160.0	140.0	146.0					17																	47394794		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394794C>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.294G>T	17.37:g.47394794C>A	ENSP00000354686:p.Glu98Asp					ZNF652_ENST00000430262.2_Missense_Mutation_p.E98D	p.E98D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	612	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		98			Glu-rich.		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.294G>T	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965303	0.34659	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.99070	-5.39;-5.39	5.74	4.77	0.60923	.	0.275715	0.39759	N	0.001272	D	0.95233	0.8454	N	0.24115	0.695	0.34542	D	0.7104	P	0.38767	0.646	B	0.33339	0.162	D	0.96246	0.9179	10	0.14252	T	0.57	-18.0215	9.3254	0.37990	0.0:0.7805:0.0:0.2195	.	98	Q9Y2D9	ZN652_HUMAN	D	98	ENSP00000354686:E98D;ENSP00000416305:E98D	ENSP00000354686:E98D	E	-	3	2	ZNF652	44749793	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.335000	0.19806	1.436000	0.47453	0.655000	0.94253	GAG		0.428	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		41	63	1	0	9.85913e-13	1	1.24945e-12	41	63				
ADRBK2	157	broad.mit.edu	37	22	26000402	26000402	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26000402A>C	ENST00000324198.6	+	2	364	c.172A>C	c.(172-174)Att>Ctt	p.I58L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	58	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CTTTGACAAGATTTTCAATCA	0.378																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(172-174)Att>Ctt		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						115.0	106.0	109.0					22																	26000402		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26000402A>C	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.172A>C	22.37:g.26000402A>C	ENSP00000317578:p.Ile58Leu						p.I58L	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			2	364	+			58			N-terminal.|RGS.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.172A>C	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240473	0.79912	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.01887	4.58	4.37	4.37	0.52481	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.10294	0.0252	M	0.73598	2.24	0.58432	D	0.999998	B;P	0.50617	0.326;0.937	P;D	0.85130	0.617;0.997	T	0.21484	-1.0244	10	0.22706	T	0.39	-22.638	11.5677	0.50815	1.0:0.0:0.0:0.0	.	58;58	A8K869;P35626	.;ARBK2_HUMAN	L	58	ENSP00000317578:I58L	ENSP00000317578:I58L	I	+	1	0	ADRBK2	24330402	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.740000	0.68629	1.828000	0.53243	0.528000	0.53228	ATT		0.378	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		22	43	0	0	0	1	0	22	43				
STRN4	29888	broad.mit.edu	37	19	47223872	47223872	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47223872T>G	ENST00000263280.6	-	17	2298	c.2249A>C	c.(2248-2250)aAg>aCg	p.K750T	STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000539396.1_Missense_Mutation_p.K631T|STRN4_ENST00000391910.3_Missense_Mutation_p.K757T	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	750						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TACGAAGACCTTGGCCAGGGC	0.677																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2269-2271)aAg>aCg		striatin, calmodulin binding protein 4							95.0	70.0	78.0					19																	47223872		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47223872T>G	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2249A>C	19.37:g.47223872T>G	ENSP00000263280:p.Lys750Thr					STRN4_ENST00000539396.1_Missense_Mutation_p.K631T|STRN4_ENST00000263280.6_Missense_Mutation_p.K750T	p.K757T			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	17	2720	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	750					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.2270A>C	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690801	0.88735	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	D;D;D	0.82433	-1.61;-1.61;-1.61	4.65	4.65	0.58169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92802	0.7711	M	0.93678	3.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.987;0.998	D	0.94368	0.7593	10	0.87932	D	0	-25.4318	13.1878	0.59691	0.0:0.0:0.0:1.0	.	757;750	F8VYA6;Q9NRL3	.;STRN4_HUMAN	T	757;750;631	ENSP00000375777:K757T;ENSP00000263280:K750T;ENSP00000440901:K631T	ENSP00000263280:K750T	K	-	2	0	STRN4	51915712	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.521000	0.81832	1.944000	0.56390	0.379000	0.24179	AAG		0.677	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			18	26	0	0	0	1	0	18	26				
LPAR4	2846	broad.mit.edu	37	X	78010799	78010799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:78010799C>T	ENST00000435339.3	+	2	819	c.433C>T	c.(433-435)Cga>Tga	p.R145*		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTATCCTTTTCGATCTCGTAC	0.463																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(433-435)Cga>Tga		lysophosphatidic acid receptor 4							215.0	147.0	170.0					X																	78010799		2203	4300	6503	SO:0001587	stop_gained	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010799C>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.433C>T	X.37:g.78010799C>T	ENSP00000408205:p.Arg145*					LPAR4_ENST00000373301.2_Nonsense_Mutation_p.R145*	p.R145*	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	838	+			145					B2RAC7|O15132|Q502U9|Q6NSP5	Nonsense_Mutation	SNP	ENST00000435339.3	37	c.433C>T	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	38	6.883231	0.97908	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	.	.	.	4.21	2.35	0.29111	.	0.074980	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8502	0.35194	0.1596:0.6707:0.1696:0.0	.	.	.	.	X	145	.	ENSP00000362398:R145X	R	+	1	2	LPAR4	77897455	0.995000	0.38212	0.993000	0.49108	0.947000	0.59692	1.318000	0.33643	0.216000	0.20781	0.422000	0.28245	CGA		0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		35	69	0	0	0	1	0	35	69				
MAGEA1	4100	broad.mit.edu	37	X	152482977	152482977	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152482977G>A	ENST00000356661.5	-	3	252	c.34C>T	c.(34-36)Cct>Tct	p.P12S		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	12					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCTCAGGCTTGCAGTGC	0.627																																						ENST00000356661.5																			0				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(34-36)Cct>Tct		melanoma antigen family A, 1 (directs expression of antigen MZ2-E)							56.0	62.0	60.0					X																	152482977		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152482977G>A		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.34C>T	X.37:g.152482977G>A	ENSP00000349085:p.Pro12Ser						p.P12S	NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN			3	252	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		12					B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.34C>T	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	g	6.412	0.444131	0.12164	.	.	ENSG00000198681	ENST00000356661	T	0.04360	3.64	1.27	-2.53	0.06326	Melanoma associated antigen, MAGE, N-terminal (1);	8.280160	0.00166	N	0.000000	T	0.19805	0.0476	M	0.87456	2.885	0.09310	N	1	D	0.62365	0.991	D	0.65987	0.94	T	0.39563	-0.9608	10	0.22706	T	0.39	.	5.4519	0.16570	0.5608:0.0:0.4392:0.0	.	12	P43355	MAGA1_HUMAN	S	12	ENSP00000349085:P12S	ENSP00000349085:P12S	P	-	1	0	MAGEA1	152136171	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.850000	0.04317	-1.112000	0.02984	0.183000	0.17082	CCT		0.627	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		14	119	0	0	0	1	0	14	119				
CCNYL1	151195	broad.mit.edu	37	2	208591568	208591568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:208591568C>T	ENST00000295414.3	+	3	509	c.298C>T	c.(298-300)Cga>Tga	p.R100*	CCNYL1_ENST00000339882.5_Nonsense_Mutation_p.R100*|CCNYL1_ENST00000392209.3_Nonsense_Mutation_p.R30*			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	100					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		ATTCTTAGTGCGAGAAAAGAG	0.299																																						ENST00000295414.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(298-300)Cga>Tga		cyclin Y-like 1							92.0	100.0	97.0					2																	208591568		2203	4296	6499	SO:0001587	stop_gained	151195				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr2:208591568C>T	AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.298C>T	2.37:g.208591568C>T	ENSP00000295414:p.Arg100*					CCNYL1_ENST00000392209.3_Nonsense_Mutation_p.R30*|CCNYL1_ENST00000339882.5_Nonsense_Mutation_p.R100*	p.R100*			Q8N7R7	CCYL1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	3	509	+			100					Q6NX60	Nonsense_Mutation	SNP	ENST00000295414.3	37	c.298C>T		.	.	.	.	.	.	.	.	.	.	C	25.2	4.613330	0.87359	.	.	ENSG00000163249	ENST00000392209;ENST00000295414;ENST00000339882	.	.	.	5.39	4.39	0.52855	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.706	0.57061	0.2584:0.7416:0.0:0.0	.	.	.	.	X	30;100;100	.	ENSP00000295414:R100X	R	+	1	2	CCNYL1	208299813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.283000	0.43470	2.687000	0.91594	0.561000	0.74099	CGA		0.299	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523		32	65	0	0	0	1	0	32	65				
CACNA1C	775	broad.mit.edu	37	12	2763047	2763047	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:2763047A>G	ENST00000347598.4	+	35	4265	c.4265A>G	c.(4264-4266)tAc>tGc	p.Y1422C	CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y1361C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y1399C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y1394C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y1396C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y1402C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y1391C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y1374C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1422					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCTTCATCTACGCGGTGATC	0.627																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(4120-4122)tAc>tGc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						82.0	85.0	84.0					12																	2763047		2053	4216	6269	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2763047A>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4265A>G	12.37:g.2763047A>G	ENSP00000266376:p.Tyr1422Cys					CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y1394C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y1361C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y1399C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Y1422C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y1402C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y1396C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y1391C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y1374C	p.Y1374C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	33	4386	+			1422					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4121A>G	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154170	0.78114	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	H	0.99475	4.585	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.997;1.0;0.999;0.997;0.997;0.998;1.0;0.999;0.997;0.997;0.997;0.999;0.999;0.999;0.997;1.0;0.999;1.0;0.997;0.999;0.999;0.997;0.997	D	0.97549	1.0091	10	0.87932	D	0	.	14.3544	0.66727	1.0:0.0:0.0:0.0	.	65;1396;1371;1422;1374;1374;1374;1391;1402;1374;1394;1374;1334;1422;1374;1374;1374;1363;1361;1363;1363;1374;1374;1374;1374	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1399;1374;1374;1402;1374;1374;1374;1363;1374;1422;1394;1374;1396;1391;1374;1361;1374;1374;1374;1374;1374;1363;1204	ENSP00000336982:Y1399C;ENSP00000382563:Y1374C;ENSP00000382552:Y1374C;ENSP00000382547:Y1402C;ENSP00000382506:Y1374C;ENSP00000382530:Y1374C;ENSP00000382546:Y1374C;ENSP00000382500:Y1363C;ENSP00000382549:Y1374C;ENSP00000266376:Y1422C;ENSP00000382515:Y1394C;ENSP00000382510:Y1374C;ENSP00000341092:Y1396C;ENSP00000382537:Y1391C;ENSP00000329877:Y1374C;ENSP00000382557:Y1361C;ENSP00000385724:Y1374C;ENSP00000382512:Y1374C;ENSP00000382542:Y1374C;ENSP00000382526:Y1374C;ENSP00000385896:Y1374C;ENSP00000382504:Y1363C	ENSP00000323129:Y1204C	Y	+	2	0	CACNA1C	2633308	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.079000	0.94032	2.053000	0.61076	0.454000	0.30748	TAC		0.627	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		8	21	0	0	0	1	0	8	21				
MID1	4281	broad.mit.edu	37	X	10491182	10491182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:10491182C>A	ENST00000317552.4	-	3	1106	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	MID1_ENST00000453318.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380787.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380779.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E236*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	236					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTCTCCAGTTCTGTGTTCCTC	0.338																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(706-708)Gaa>Taa		midline 1 (Opitz/BBB syndrome)							222.0	201.0	208.0					X																	10491182		2203	4300	6503	SO:0001587	stop_gained	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10491182C>A	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.706G>T	X.37:g.10491182C>A	ENSP00000312678:p.Glu236*					MID1_ENST00000380779.1_Nonsense_Mutation_p.E236*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380787.1_Nonsense_Mutation_p.E236*	p.E236*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			3	1106	-			236					B2RCG2|O75361|Q9BZX5	Nonsense_Mutation	SNP	ENST00000317552.4	37	c.706G>T	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	40	7.938518	0.98571	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	.	.	.	4.96	4.96	0.65561	.	0.171732	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	17.2878	0.87146	0.0:1.0:0.0:0.0	.	.	.	.	X	236;236;236;236;236;236;236;186;236	.	ENSP00000312678:E236X	E	-	1	0	MID1	10451182	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.042000	0.76565	2.195000	0.70347	0.506000	0.49869	GAA		0.338	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			46	63	1	0	3.21987e-24	1	4.51617e-24	46	63				
ERAP2	64167	broad.mit.edu	37	5	96219620	96219620	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96219620T>C	ENST00000437043.3	+	3	1411	c.700T>C	c.(700-702)Tcc>Ccc	p.S234P	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.S234P|ERAP2_ENST00000379904.4_Missense_Mutation_p.S234P	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	234					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TATTGCACTATCCAACATGCC	0.408																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(700-702)Tcc>Ccc		endoplasmic reticulum aminopeptidase 2							84.0	76.0	79.0					5																	96219620		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96219620T>C	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.700T>C	5.37:g.96219620T>C	ENSP00000400376:p.Ser234Pro					ERAP2_ENST00000379904.4_Missense_Mutation_p.S234P|ERAP2_ENST00000510309.1_Missense_Mutation_p.S234P|CTD-2260A17.2_ENST00000501338.1_Intron	p.S234P	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	3	1411	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	234					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.700T>C	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081033	0.55753	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	5.13	3.96	0.45880	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.154950	0.43416	D	0.000572	T	0.46464	0.1394	H	0.97852	4.09	0.43924	D	0.996579	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.59542	-0.7435	10	0.87932	D	0	.	10.0187	0.42029	0.0:0.082:0.0:0.9179	.	234;234	Q6P179-3;Q6P179	.;ERAP2_HUMAN	P	234	ENSP00000400376:S234P;ENSP00000421175:S234P;ENSP00000421849:S234P;ENSP00000369235:S234P;ENSP00000425758:S234P	ENSP00000369235:S234P	S	+	1	0	ERAP2	96245376	1.000000	0.71417	0.780000	0.31762	0.716000	0.41182	7.387000	0.79785	0.893000	0.36288	0.455000	0.32223	TCC		0.408	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		16	21	0	0	0	1	0	16	21				
RNF128	79589	broad.mit.edu	37	X	106038844	106038844	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106038844T>G	ENST00000255499.2	+	7	1438	c.1188T>G	c.(1186-1188)aaT>aaG	p.N396K	RNF128_ENST00000324342.3_Missense_Mutation_p.N370K	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	396					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATGAAGCAAATTCTGTGGCAG	0.358																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(1186-1188)aaT>aaG		ring finger protein 128, E3 ubiquitin protein ligase							167.0	167.0	167.0					X																	106038844		2202	4300	6502	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106038844T>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.1188T>G	X.37:g.106038844T>G	ENSP00000255499:p.Asn396Lys					RNF128_ENST00000324342.3_Missense_Mutation_p.N370K	p.N396K	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			7	1438	+			396					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.1188T>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529844	0.27387	.	.	ENSG00000133135	ENST00000324342;ENST00000255499	T;T	0.10860	3.02;2.83	5.71	4.55	0.56014	.	0.785223	0.12308	N	0.480462	T	0.04724	0.0128	N	0.08118	0	0.29888	N	0.825411	B;B	0.16396	0.017;0.01	B;B	0.18561	0.01;0.022	T	0.40776	-0.9545	10	0.07813	T	0.8	.	5.2585	0.15559	0.0:0.0933:0.1764:0.7303	.	396;370	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	K	370;396	ENSP00000316127:N370K;ENSP00000255499:N396K	ENSP00000255499:N396K	N	+	3	2	RNF128	105925500	0.315000	0.24571	0.755000	0.31263	0.930000	0.56654	1.215000	0.32431	0.776000	0.33473	0.481000	0.45027	AAT		0.358	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		23	165	0	0	0	1	0	23	165				
PPM1H	57460	broad.mit.edu	37	12	63182119	63182119	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:63182119C>T	ENST00000228705.6	-	4	1057		c.e4-1			NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H								phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCTGTAGGTCCTGGAGAATAA	0.438																																						ENST00000228705.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18						c.e4-1		protein phosphatase, Mg2+/Mn2+ dependent, 1H							61.0	59.0	59.0					12																	63182119		1883	4117	6000	SO:0001630	splice_region_variant	57460						phosphoprotein phosphatase activity	g.chr12:63182119C>T	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.757-1G>A	12.37:g.63182119C>T								NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	4	1057	-								B1Q2A9|B2RXG4|Q6PI86	Splice_Site	SNP	ENST00000228705.6	37		CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007788	0.54361	.	.	ENSG00000111110	ENST00000228705	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8497	0.88742	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPM1H	61468386	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	6.260000	0.72502	2.748000	0.94277	0.462000	0.41574	.		0.438	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700	Intron	6	10	0	0	0	1	0	6	10				
OR10X1	128367	broad.mit.edu	37	1	158549183	158549183	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158549183G>T	ENST00000368150.1	-	1	506	c.507C>A	c.(505-507)ttC>ttA	p.F169L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F169F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGAGATAAAGAAGCCTGCAG	0.468																																						ENST00000368150.1																			1	Substitution - coding silent(1)	p.F169F(1)	cervix(1)	breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(505-507)ttC>ttA		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							51.0	53.0	52.0					1																	158549183		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549183G>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.507C>A	1.37:g.158549183G>T	ENSP00000357132:p.Phe169Leu						p.F169L	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	506	-	all_hematologic(112;0.0378)		169					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.507C>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	G	5.785	0.329095	0.10956	.	.	ENSG00000186400	ENST00000368150	T	0.00039	8.85	5.0	0.724	0.18236	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000098	T	0.00073	0.0002	N	0.25031	0.7	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.43310	-0.9399	10	0.14656	T	0.56	.	8.596	0.33716	0.4304:0.0:0.5696:0.0	.	169	Q8NGY0	O10X1_HUMAN	L	169	ENSP00000357132:F169L	ENSP00000357132:F169L	F	-	3	2	OR10X1	156815807	0.000000	0.05858	0.120000	0.21714	0.074000	0.17049	-1.417000	0.02464	0.278000	0.22164	-0.259000	0.10710	TTC		0.468	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		23	25	1	0	7.41877e-09	1	8.8016e-09	23	25				
LTBP1	4052	broad.mit.edu	37	2	33413754	33413754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:33413754G>T	ENST00000404816.2	+	7	1890	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E187*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E513*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E187*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E187*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	513					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAAGACAAAAGAAGCTCAACC	0.483																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(1537-1539)Gaa>Taa		latent transforming growth factor beta binding protein 1							113.0	104.0	107.0					2																	33413754		2203	4300	6503	SO:0001587	stop_gained	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33413754G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1537G>T	2.37:g.33413754G>T	ENSP00000386043:p.Glu513*					LTBP1_ENST00000404525.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E513*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E187*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E187*	p.E513*			Q14766	LTBP1_HUMAN			7	1890	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	513					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.1537G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624025	0.87560	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.1667	0.81768	0.0:0.1331:0.8669:0.0	.	.	.	.	X	513;513;187;187;187;187;187	.	ENSP00000346467:E513X	E	+	1	0	LTBP1	33267258	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	3.810000	0.55613	2.719000	0.93026	0.556000	0.70494	GAA		0.483	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		37	60	1	0	1.26612e-14	1	1.65413e-14	37	60				
SLC6A1	6529	broad.mit.edu	37	3	11064023	11064023	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:11064023C>T	ENST00000287766.4	+	7	1004	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	SLC6A1_ENST00000536032.1_Splice_Site_p.R17C	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	195					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TTTGACCAGGCGCAACATGCA	0.602																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.e7-1		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						66.0	58.0	60.0					3																	11064023		2203	4300	6503	SO:0001630	splice_region_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11064023C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.582-1C>T	3.37:g.11064023C>T						SLC6A1_ENST00000536032.1_Splice_Site_p.R17_splice	p.R195_splice	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	7	1004	+		Ovarian(110;0.0392)	195					Q8N4K8	Splice_Site	SNP	ENST00000287766.4	37	c.581_splice	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076246	0.94000	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.77877	-1.13;-1.13	5.02	5.02	0.67125	.	0.074293	0.56097	D	0.000023	D	0.91734	0.7386	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.94022	0.7293	10	0.87932	D	0	.	18.5391	0.91020	0.0:1.0:0.0:0.0	.	195	P30531	SC6A1_HUMAN	C	195;17	ENSP00000287766:R195C;ENSP00000445171:R17C	ENSP00000287766:R195C	R	+	1	0	SLC6A1	11039023	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.617000	0.61204	2.607000	0.88179	0.561000	0.74099	CGC		0.602	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	Missense_Mutation	13	29	0	0	0	1	0	13	29				
LARP4	113251	broad.mit.edu	37	12	50847289	50847289	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50847289G>A	ENST00000398473.2	+	9	963	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	LARP4_ENST00000518444.1_Missense_Mutation_p.R283Q|LARP4_ENST00000522085.1_Missense_Mutation_p.R284Q|LARP4_ENST00000293618.8_Missense_Mutation_p.R284Q|LARP4_ENST00000429001.3_Missense_Mutation_p.R290Q|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000518561.1_Missense_Mutation_p.R214Q	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	284					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AATGGTTATCGATTAATGGAT	0.348																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(850-852)cGa>cAa		La ribonucleoprotein domain family, member 4							143.0	126.0	131.0					12																	50847289		1885	4105	5990	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50847289G>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.851G>A	12.37:g.50847289G>A	ENSP00000381490:p.Arg284Gln					LARP4_ENST00000522085.1_Missense_Mutation_p.R284Q|LARP4_ENST00000293618.8_Missense_Mutation_p.R284Q|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000429001.3_Missense_Mutation_p.R290Q|LARP4_ENST00000518561.1_Missense_Mutation_p.R214Q|LARP4_ENST00000518444.1_Missense_Mutation_p.R283Q	p.R284Q	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			9	963	+			284					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.851G>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960680	0.92791	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064	T;T;T;T;T;T	0.62105	1.23;0.71;0.69;0.05;0.68;0.19	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	L	0.58428	1.81	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.966;0.995;0.995;0.963;0.976	T	0.79596	-0.1738	10	0.72032	D	0.01	.	16.7276	0.85427	0.0:0.0:1.0:0.0	.	185;283;284;284;290	Q71RC2-2;Q71RC2-3;G3XAA8;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	Q	284;290;284;284;284;283;214;185	ENSP00000293618:R284Q;ENSP00000415464:R290Q;ENSP00000381490:R284Q;ENSP00000429781:R284Q;ENSP00000429077:R283Q;ENSP00000430851:R214Q	ENSP00000293618:R284Q	R	+	2	0	LARP4	49133556	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.204000	0.95041	2.124000	0.65301	0.313000	0.20887	CGA		0.348	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		23	54	0	0	0	1	0	23	54				
ZNF445	353274	broad.mit.edu	37	3	44489996	44489996	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44489996T>G	ENST00000396077.2	-	8	1514	c.1167A>C	c.(1165-1167)gaA>gaC	p.E389D	ZNF445_ENST00000425708.2_Missense_Mutation_p.E389D	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	389					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E389D(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCCTGATACTTCAGAGTCTT	0.378																																						ENST00000425708.2																			1	Substitution - Missense(1)	p.E389D(1)	pancreas(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(1165-1167)gaA>gaC		zinc finger protein 445							134.0	133.0	133.0					3																	44489996		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44489996T>G	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1167A>C	3.37:g.44489996T>G	ENSP00000379387:p.Glu389Asp					ZNF445_ENST00000396077.2_Missense_Mutation_p.E389D	p.E389D			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	1508	-			389					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.1167A>C	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428000	0.43122	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.05649	3.41;3.41	4.29	-3.32	0.04973	.	0.665977	0.13845	N	0.358726	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.10450	0.005;0.005	T	0.36792	-0.9733	10	0.72032	D	0.01	.	2.1814	0.03876	0.135:0.3822:0.1383:0.3445	.	377;389	B7ZKX2;P59923	.;ZN445_HUMAN	D	389	ENSP00000413073:E389D;ENSP00000379387:E389D	ENSP00000379387:E389D	E	-	3	2	ZNF445	44465000	0.000000	0.05858	0.000000	0.03702	0.601000	0.36947	-0.684000	0.05173	-0.595000	0.05828	-1.223000	0.01593	GAA		0.378	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		29	53	0	0	0	1	0	29	53				
PLP1	5354	broad.mit.edu	37	X	103040659	103040659	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040659C>A	ENST00000303958.2	+	2	299	c.153C>A	c.(151-153)ttC>ttA	p.F51L	PLP1_ENST00000361621.2_Missense_Mutation_p.F51L|PLP1_ENST00000418604.1_Missense_Mutation_p.F51L	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	51			F -> S (in HLD1). {ECO:0000269|PubMed:11093273}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)	p.F51L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGACCTATTTCTCCAAAAACT	0.478																																						ENST00000418604.1																			1	Substitution - Missense(1)	p.F51L(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(151-153)ttC>ttA		proteolipid protein 1							190.0	170.0	177.0					X																	103040659		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103040659C>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.153C>A	X.37:g.103040659C>A	ENSP00000305152:p.Phe51Leu					PLP1_ENST00000303958.2_Missense_Mutation_p.F51L|PLP1_ENST00000361621.2_Missense_Mutation_p.F51L	p.F51L	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			3	433	+			51		F -> S (in HLD1).			P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.153C>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857759	0.71834	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99515	-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06	5.58	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.78049	2.395	0.49687	D	0.999817	D;D;P	0.63046	0.979;0.992;0.927	D;D;P	0.76071	0.973;0.987;0.801	D	0.98931	1.0787	10	0.59425	D	0.04	-5.5143	7.5371	0.27717	0.0:0.7924:0.0:0.2076	.	51;51;51	B1B1G6;P60201;P60201-2	.;MYPR_HUMAN;.	L	51	ENSP00000403335:F51L;ENSP00000399913:F51L;ENSP00000409802:F51L;ENSP00000413931:F51L;ENSP00000393391:F51L;ENSP00000405750:F51L;ENSP00000391853:F51L;ENSP00000305152:F51L;ENSP00000354860:F51L	ENSP00000305152:F51L	F	+	3	2	PLP1	102927315	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.493000	0.45320	2.337000	0.79520	0.600000	0.82982	TTC		0.478	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			58	103	1	0	4.17463e-26	1	5.89501e-26	58	103				
ZNF804B	219578	broad.mit.edu	37	7	88962766	88962766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88962766G>T	ENST00000333190.4	+	4	1079	c.470G>T	c.(469-471)aGa>aTa	p.R157I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	157							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGAATGGCAGAAAGGTATCA	0.438										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(469-471)aGa>aTa		zinc finger protein 804B							65.0	64.0	64.0					7																	88962766		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962766G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.470G>T	7.37:g.88962766G>T	ENSP00000329638:p.Arg157Ile	HNSCC(36;0.09)					p.R157I	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1079	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		157					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.470G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914236	0.33815	.	.	ENSG00000182348	ENST00000333190	T	0.05447	3.44	5.4	3.56	0.40772	.	0.181863	0.39020	N	0.001500	T	0.10078	0.0247	N	0.25647	0.755	0.49915	D	0.999839	D	0.63880	0.993	P	0.59288	0.855	T	0.08953	-1.0697	10	0.56958	D	0.05	-16.0153	8.7359	0.34528	0.2654:0.0:0.7346:0.0	.	157	A4D1E1	Z804B_HUMAN	I	157	ENSP00000329638:R157I	ENSP00000329638:R157I	R	+	2	0	ZNF804B	88800702	0.989000	0.36119	0.913000	0.36048	0.596000	0.36781	1.226000	0.32563	1.519000	0.48950	0.650000	0.86243	AGA		0.438	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		20	29	1	0	4.96729e-08	1	5.79844e-08	20	29				
CIR1	9541	broad.mit.edu	37	2	175215392	175215392	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175215392G>A	ENST00000342016.3	-	9	765	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	225	Interaction with RP9. {ECO:0000250}.|Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						AATTACCTGAGAAGTTTCTGT	0.328																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(673-675)Ctc>Ttc		corepressor interacting with RBPJ, 1							63.0	61.0	62.0					2																	175215392		2202	4300	6502	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175215392G>A	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.673C>T	2.37:g.175215392G>A	ENSP00000339723:p.Leu225Phe					CIR1_ENST00000362053.5_3'UTR	p.L225F	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			9	765	-			225			Interaction with RP9 (By similarity).|Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.673C>T	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325169	0.60634	.	.	ENSG00000138433	ENST00000342016	.	.	.	5.73	5.73	0.89815	.	0.192513	0.45126	D	0.000393	D	0.83133	0.5188	M	0.77486	2.375	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.83923	0.0302	9	0.62326	D	0.03	.	19.4967	0.95075	0.0:0.0:1.0:0.0	.	225;225	A0PJI7;Q86X95	.;CIR1_HUMAN	F	225	.	ENSP00000339723:L225F	L	-	1	0	CIR1	174923638	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.399000	0.73248	2.688000	0.91661	0.650000	0.86243	CTC		0.328	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		5	16	0	0	0	1	0	5	16				
E2F8	79733	broad.mit.edu	37	11	19251847	19251847	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19251847G>A	ENST00000527884.1	-	9	1531	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.F433F	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	433					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTTACTTGGGAAGGGTGCAG	0.403																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1297-1299)ttC>ttT		E2F transcription factor 8							95.0	92.0	93.0					11																	19251847		2199	4293	6492	SO:0001819	synonymous_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19251847G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1299C>T	11.37:g.19251847G>A						E2F8_ENST00000250024.4_Silent_p.F433F|RP11-428C19.4_ENST00000527978.1_RNA	p.F433F	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			9	1531	-			433					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	c.1299C>T	CCDS7849.1																																																																																				0.403	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		17	52	0	0	0	1	0	17	52				
EML5	161436	broad.mit.edu	37	14	89202808	89202808	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:89202808A>T	ENST00000380664.5	-	7	948	c.949T>A	c.(949-951)Ttt>Att	p.F317I	EML5_ENST00000352093.5_Missense_Mutation_p.F317I|EML5_ENST00000554922.1_Missense_Mutation_p.F317I			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	317				F -> S (in Ref. 2; AAH32685). {ECO:0000305}.		cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATAATTAGAAAAGGTTTATTT	0.428																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(949-951)Ttt>Att		echinoderm microtubule associated protein like 5							180.0	176.0	177.0					14																	89202808		1900	4111	6011	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89202808A>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.949T>A	14.37:g.89202808A>T	ENSP00000370039:p.Phe317Ile					EML5_ENST00000380664.5_Missense_Mutation_p.F317I|EML5_ENST00000352093.5_Missense_Mutation_p.F317I	p.F317I	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			7	1197	-			317	F -> S (in Ref. 2; AAH32685).				B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.949T>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469185	0.43839	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.01185	5.21;5.21;5.21	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.178499	0.49916	D	0.000133	T	0.00906	0.0030	N	0.08118	0	0.58432	D	0.999994	B	0.22211	0.066	B	0.17098	0.017	T	0.69480	-0.5134	10	0.19590	T	0.45	-11.8549	15.1382	0.72586	1.0:0.0:0.0:0.0	.	317	Q05BV3	EMAL5_HUMAN	I	317	ENSP00000451998:F317I;ENSP00000298315:F317I;ENSP00000370039:F317I	ENSP00000298315:F317I	F	-	1	0	EML5	88272561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.951000	0.75983	2.166000	0.68216	0.533000	0.62120	TTT		0.428	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			52	89	0	0	0	1	0	52	89				
LMTK2	22853	broad.mit.edu	37	7	97788728	97788728	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:97788728C>A	ENST00000297293.5	+	6	941	c.648C>A	c.(646-648)ttC>ttA	p.F216L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGTTTGAGTTCTGTGACTTGG	0.423																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(646-648)ttC>ttA		lemur tyrosine kinase 2							212.0	194.0	200.0					7																	97788728		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97788728C>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.648C>A	7.37:g.97788728C>A	ENSP00000297293:p.Phe216Leu						p.F216L	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			6	941	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		216			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.648C>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494741	0.44352	.	.	ENSG00000164715	ENST00000297293	T	0.61158	0.13	5.2	2.08	0.27032	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175951	0.52532	D	0.000078	T	0.35941	0.0949	N	0.16833	0.445	0.36415	D	0.863972	B	0.17038	0.02	B	0.23150	0.044	T	0.18178	-1.0345	10	0.30078	T	0.28	.	6.626	0.22830	0.0:0.5789:0.2233:0.1978	.	216	Q8IWU2	LMTK2_HUMAN	L	216	ENSP00000297293:F216L	ENSP00000297293:F216L	F	+	3	2	LMTK2	97626664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.227000	0.32576	0.551000	0.29008	-0.123000	0.14984	TTC		0.423	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		14	40	1	0	2.61681e-11	1	3.25035e-11	14	40				
SHROOM4	57477	broad.mit.edu	37	X	50377889	50377889	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50377889G>T	ENST00000289292.7	-	4	1467	c.1184C>A	c.(1183-1185)tCt>tAt	p.S395Y	SHROOM4_ENST00000376020.2_Missense_Mutation_p.S395Y|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S279Y			Q9ULL8	SHRM4_HUMAN	shroom family member 4	395					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTGCCAAAAGAAGCCTTAGC	0.552																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1183-1185)tCt>tAt		shroom family member 4							42.0	28.0	33.0					X																	50377889		2203	4299	6502	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377889G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1184C>A	X.37:g.50377889G>T	ENSP00000289292:p.Ser395Tyr					SHROOM4_ENST00000460112.3_Missense_Mutation_p.S279Y|SHROOM4_ENST00000289292.7_Missense_Mutation_p.S395Y	p.S395Y	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1209	-	Ovarian(276;0.236)		395					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1184C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	6.372	0.436752	0.12104	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.47177	0.85;0.85;0.85	4.9	-0.17	0.13335	.	1.262500	0.05204	N	0.505541	T	0.40423	0.1116	L	0.57536	1.79	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20107	-1.0285	10	0.27785	T	0.31	.	3.802	0.08761	0.2709:0.0:0.4393:0.2898	.	395	Q9ULL8	SHRM4_HUMAN	Y	395;395;279	ENSP00000289292:S395Y;ENSP00000365188:S395Y;ENSP00000421450:S279Y	ENSP00000289292:S395Y	S	-	2	0	SHROOM4	50394629	0.000000	0.05858	0.000000	0.03702	0.824000	0.46624	0.400000	0.20932	0.135000	0.18707	0.600000	0.82982	TCT		0.552	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		10	15	1	0	0.000442599	1	0.00046913	10	15				
RNF20	56254	broad.mit.edu	37	9	104316369	104316369	+	Silent	SNP	G	G	A	rs147900751	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104316369G>A	ENST00000389120.3	+	14	2091	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	667					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGGCAGCTGAGAAGAAGTCTA	0.428													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17160	0.0		0.0	False		,,,				2504	0.0					ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1999-2001)gaG>gaA		ring finger protein 20, E3 ubiquitin protein ligase		G		5,4401	9.9+/-24.2	0,5,2198	141.0	118.0	126.0		2001	4.2	1.0	9	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	RNF20	NM_019592.5		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		667/976	104316369	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104316369G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2001G>A	9.37:g.104316369G>A							p.E667E	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	14	2091	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	667					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.2001G>A	CCDS35084.1																																																																																				0.428	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		20	42	0	0	0	1	0	20	42				
KIAA0753	9851	broad.mit.edu	37	17	6493188	6493188	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6493188G>A	ENST00000361413.3	-	18	3055	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	KIAA0753_ENST00000542606.1_Silent_p.I600I|KIAA0753_ENST00000589033.1_Silent_p.I355I|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Silent_p.I600I	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	899						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AGTAGTCACCGATGCTGTGCT	0.512																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(2695-2697)atC>atT		KIAA0753							107.0	106.0	107.0					17																	6493188		1916	4129	6045	SO:0001819	synonymous_variant	9851					centrosome		g.chr17:6493188G>A		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2697C>T	17.37:g.6493188G>A						KIAA0753_ENST00000572370.1_Silent_p.I600I|KIAA0753_ENST00000589033.1_Silent_p.I355I|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Silent_p.I600I	p.I899I	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	18	3055	-			899					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	c.2697C>T	CCDS42247.1																																																																																				0.512	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		20	42	0	0	0	1	0	20	42				
IL36B	27177	broad.mit.edu	37	2	113788717	113788717	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113788717T>G	ENST00000259213.4	-	3	136	c.29A>C	c.(28-30)aAa>aCa	p.K10T	IL36B_ENST00000327407.2_Missense_Mutation_p.K10T	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	10					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						AGCATAGGATTTGGGTGCTGC	0.463																																						ENST00000259213.4																			0				kidney(1)|ovary(1)|pancreas(1)	3						c.(28-30)aAa>aCa		interleukin 36, beta							98.0	87.0	91.0					2																	113788717		2203	4300	6503	SO:0001583	missense	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113788717T>G	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.29A>C	2.37:g.113788717T>G	ENSP00000259213:p.Lys10Thr					IL36B_ENST00000327407.2_Missense_Mutation_p.K10T	p.K10T	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN			3	136	-			10					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	c.29A>C	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	t	2.675	-0.276730	0.05679	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.16324	2.35;2.35	3.21	-6.43	0.01926	.	6.063900	0.00166	N	0.000000	T	0.10937	0.0267	L	0.29908	0.895	0.09310	N	1	B;B	0.29671	0.129;0.254	B;B	0.31946	0.138;0.089	T	0.10474	-1.0628	10	0.48119	T	0.1	.	0.6854	0.00882	0.3396:0.2481:0.2586:0.1537	.	10;10	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	T	10	ENSP00000259213:K10T;ENSP00000328420:K10T	ENSP00000259213:K10T	K	-	2	0	IL36B	113505188	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.765000	0.01799	-2.349000	0.00618	-0.623000	0.04022	AAA		0.463	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		9	45	0	0	0	1	0	9	45				
TIAM2	26230	broad.mit.edu	37	6	155569225	155569225	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155569225G>A	ENST00000461783.3	+	22	5017	c.3744G>A	c.(3742-3744)ccG>ccA	p.P1248P	TIAM2_ENST00000360366.4_Silent_p.P1272P|TIAM2_ENST00000275246.7_Silent_p.P173P|TIAM2_ENST00000318981.5_Silent_p.P1248P|TIAM2_ENST00000367174.2_Silent_p.P624P|TIAM2_ENST00000528391.2_Silent_p.P584P|TIAM2_ENST00000529824.2_Silent_p.P1248P|TIAM2_ENST00000456877.2_Silent_p.P560P|TIAM2_ENST00000456144.1_Silent_p.P1248P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1248	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCATCAAGCCGGTTCAGAGAG	0.592											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3742-3744)ccG>ccA		T-cell lymphoma invasion and metastasis 2																																				SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155569225G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3744G>A	6.37:g.155569225G>A			OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1771	TIAM2_ENST00000456877.2_Silent_p.P560P|TIAM2_ENST00000275246.7_Silent_p.P173P|TIAM2_ENST00000360366.4_Silent_p.P1272P|TIAM2_ENST00000528391.2_Silent_p.P584P|TIAM2_ENST00000529824.2_Silent_p.P1248P|TIAM2_ENST00000456144.1_Silent_p.P1248P|TIAM2_ENST00000318981.5_Silent_p.P1248P|TIAM2_ENST00000367174.2_Silent_p.P624P	p.P1248P			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	5017	+		Ovarian(120;0.196)	1248			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.3744G>A	CCDS34558.1																																																																																				0.592	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		18	49	0	0	0	1	0	18	49				
KBTBD3	143879	broad.mit.edu	37	11	105924041	105924041	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:105924041G>T	ENST00000526793.1	-	3	1534	c.1375C>A	c.(1375-1377)Ctt>Att	p.L459I	KBTBD3_ENST00000534815.1_Missense_Mutation_p.L380I|KBTBD3_ENST00000531837.1_Missense_Mutation_p.L459I	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	455										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCTGATCCAAGAACATAAATT	0.373																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(1375-1377)Ctt>Att		kelch repeat and BTB (POZ) domain containing 3							54.0	52.0	53.0					11																	105924041		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105924041G>T	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1375C>A	11.37:g.105924041G>T	ENSP00000436262:p.Leu459Ile					KBTBD3_ENST00000534815.1_Missense_Mutation_p.L380I|KBTBD3_ENST00000531837.1_Missense_Mutation_p.L459I	p.L459I	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	1534	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	455					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1375C>A	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971152	0.34754	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.65364	-0.15;-0.15;-0.15	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	L	0.29908	0.895	0.51482	D	0.999922	P;P	0.50156	0.932;0.911	P;B	0.47346	0.544;0.432	T	0.50659	-0.8802	10	0.17369	T	0.5	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	459;455	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	I	380;459;459	ENSP00000431910:L380I;ENSP00000436262:L459I;ENSP00000432163:L459I	ENSP00000436262:L459I	L	-	1	0	KBTBD3	105429251	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.350000	0.73017	2.835000	0.97688	0.591000	0.81541	CTT		0.373	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		8	23	1	0	0.000157383	1	0.000169016	8	23				
DHX57	90957	broad.mit.edu	37	2	39029908	39029908	+	Silent	SNP	G	G	A	rs146662521	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39029908G>A	ENST00000295373.6	-	23	4092	c.3966C>T	c.(3964-3966)ttC>ttT	p.F1322F		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1322							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGGAGACAACGAACTCTCCTC	0.507													G|||	18	0.00359425	0.0	0.0014	5008	,	,		19997	0.0		0.003	False		,,,				2504	0.0143				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3964-3966)ttC>ttT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57		G		1,4405	2.1+/-5.4	0,1,2202	253.0	206.0	222.0		3966	-1.4	0.3	2	dbSNP_134	222	40,8560	26.8+/-75.7	0,40,4260	no	coding-synonymous	DHX57	NM_198963.1		0,41,6462	AA,AG,GG		0.4651,0.0227,0.3152		1322/1387	39029908	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39029908G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3966C>T	2.37:g.39029908G>A							p.F1322F	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			23	4092	-		all_hematologic(82;0.248)	1322					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.3966C>T	CCDS1800.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	7.885	0.731100	0.15507	2.27E-4	0.004651	ENSG00000163214	ENST00000452978	.	.	.	5.64	-1.41	0.08941	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54497	-0.8285	4	.	.	.	.	10.9496	0.47321	0.7813:0.0:0.2187:0.0	.	.	.	.	C	601	.	.	R	-	1	0	DHX57	38883412	0.256000	0.24012	0.259000	0.24435	0.843000	0.47879	0.106000	0.15354	-0.152000	0.11156	-0.463000	0.05309	CGT		0.507	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		60	101	0	0	0	1	0	60	101				
GBP1	2633	broad.mit.edu	37	1	89523768	89523768	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89523768C>T	ENST00000370473.4	-	6	1000	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	261	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGCACAAATTCGGGGTCCAGC	0.458																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(781-783)Gaa>Aaa		guanylate binding protein 1, interferon-inducible							152.0	162.0	158.0					1																	89523768		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89523768C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.781G>A	1.37:g.89523768C>T	ENSP00000359504:p.Glu261Lys						p.E261K	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	6	1000	-		Lung NSC(277;0.123)	261					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.781G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094294	0.36952	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.76448	-1.02	4.48	4.48	0.54585	Guanylate-binding protein, N-terminal (1);	0.447028	0.23327	N	0.049395	T	0.52419	0.1733	L	0.53249	1.67	0.29785	N	0.833671	B	0.27656	0.184	B	0.22880	0.042	T	0.39333	-0.9619	10	0.22109	T	0.4	.	8.4944	0.33119	0.0:0.8921:0.0:0.1079	.	261	P32455	GBP1_HUMAN	K	261;224	ENSP00000359504:E261K	ENSP00000359504:E261K	E	-	1	0	GBP1	89296356	0.114000	0.22134	0.047000	0.18901	0.146000	0.21551	1.775000	0.38584	2.029000	0.59856	0.313000	0.20887	GAA		0.458	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		58	127	0	0	0	1	0	58	127				
CCDC114	93233	broad.mit.edu	37	19	48806990	48806990	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48806990A>G	ENST00000315396.7	-	8	1476	c.794T>C	c.(793-795)cTt>cCt	p.L265P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	265					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTCGTAGCAAAGCACCAGCCT	0.627																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(793-795)cTt>cCt		coiled-coil domain containing 114							84.0	82.0	83.0					19																	48806990		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806990A>G	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.794T>C	19.37:g.48806990A>G	ENSP00000318429:p.Leu265Pro						p.L265P	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	8	1476	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	265					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.794T>C	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054571	0.36277	.	.	ENSG00000105479	ENST00000315396	T	0.21734	1.99	3.02	3.02	0.34903	.	.	.	.	.	T	0.32406	0.0828	L	0.51422	1.61	0.51012	D	0.999909	D;D;D	0.76494	0.999;0.997;0.983	D;D;P	0.67382	0.951;0.931;0.804	T	0.02852	-1.1102	9	0.30854	T	0.27	-10.4995	7.7343	0.28804	1.0:0.0:0.0:0.0	.	58;265;265	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	P	265	ENSP00000318429:L265P	ENSP00000318429:L265P	L	-	2	0	CCDC114	53498802	0.538000	0.26394	0.964000	0.40570	0.373000	0.29922	2.454000	0.44979	1.387000	0.46486	0.528000	0.53228	CTT		0.627	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		40	70	0	0	0	1	0	40	70				
ACSM1	116285	broad.mit.edu	37	16	20682930	20682930	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20682930G>A	ENST00000307493.4	-	4	742	c.675C>T	c.(673-675)ttC>ttT	p.F225F	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.F225F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	225					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCCACTGGTGAAGAAGATGA	0.502																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(673-675)ttC>ttT		acyl-CoA synthetase medium-chain family member 1							130.0	107.0	115.0					16																	20682930		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20682930G>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.675C>T	16.37:g.20682930G>A						ACSM1_ENST00000520010.1_Silent_p.F225F|ACSM1_ENST00000219151.4_5'UTR	p.F225F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN			4	742	-			225					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.675C>T	CCDS10587.1																																																																																				0.502	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		21	56	0	0	0	1	0	21	56				
KIF5B	3799	broad.mit.edu	37	10	32306131	32306131	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32306131G>A	ENST00000302418.4	-	24	3158	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	901					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCCTTTATGCGATCTACTTCT	0.418			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(2701-2703)Cgc>Tgc		kinesin family member 5B							313.0	278.0	290.0					10																	32306131		2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32306131G>A	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2701C>T	10.37:g.32306131G>A	ENSP00000307078:p.Arg901Cys						p.R901C	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			24	3158	-		Prostate(175;0.0137)	901					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.2701C>T	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918429	0.92249	.	.	ENSG00000170759	ENST00000302418	D	0.86956	-2.19	5.57	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.94486	0.8225	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95453	0.8536	10	0.72032	D	0.01	.	16.0073	0.80372	0.0:0.0:0.8648:0.1352	.	901	P33176	KINH_HUMAN	C	901	ENSP00000307078:R901C	ENSP00000307078:R901C	R	-	1	0	KIF5B	32346137	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.914000	0.87478	1.329000	0.45376	0.467000	0.42956	CGC		0.418	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		68	143	0	0	0	1	0	68	143				
OR7D2	162998	broad.mit.edu	37	19	9296569	9296569	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9296569A>G	ENST00000344248.2	+	1	291	c.112A>G	c.(112-114)Acg>Gcg	p.T38A		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	38					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTACCTGGTGACGGTGCTGGG	0.507																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(112-114)Acg>Gcg		olfactory receptor, family 7, subfamily D, member 2							95.0	89.0	91.0					19																	9296569		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296569A>G	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.112A>G	19.37:g.9296569A>G	ENSP00000345563:p.Thr38Ala						p.T38A	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	291	+			38					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.112A>G	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	A	5.858	0.342487	0.11069	.	.	ENSG00000188000	ENST00000344248	T	0.00504	6.94	2.21	2.21	0.28008	.	0.414784	0.17596	U	0.168600	T	0.00524	0.0017	M	0.62209	1.925	0.09310	N	1	B	0.19200	0.034	B	0.23852	0.049	T	0.42447	-0.9451	10	0.62326	D	0.03	.	5.5744	0.17215	0.8526:0.0:0.1474:0.0	.	38	Q96RA2	OR7D2_HUMAN	A	38	ENSP00000345563:T38A	ENSP00000345563:T38A	T	+	1	0	OR7D2	9157569	0.231000	0.23751	0.384000	0.26145	0.063000	0.16089	4.450000	0.60041	1.296000	0.44742	0.418000	0.28097	ACG		0.507	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			12	83	0	0	0	1	0	12	83				
SLC16A4	9122	broad.mit.edu	37	1	110921888	110921888	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110921888G>A	ENST00000369779.4	-	6	866	c.617C>T	c.(616-618)tCt>tTt	p.S206F	SLC16A4_ENST00000437429.2_Missense_Mutation_p.S96F|SLC16A4_ENST00000541986.1_Missense_Mutation_p.S144F|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000472422.2_Missense_Mutation_p.S158F	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	206					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TTTAATACCAGAATTGTTCTC	0.423																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(616-618)tCt>tTt		solute carrier family 16, member 4	Pyruvic acid(DB00119)						127.0	116.0	120.0					1																	110921888		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110921888G>A	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.617C>T	1.37:g.110921888G>A	ENSP00000358794:p.Ser206Phe					SLC16A4_ENST00000437429.2_Missense_Mutation_p.S96F|SLC16A4_ENST00000472422.2_Missense_Mutation_p.S158F|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.S144F|SLC16A4_ENST00000497687.1_5'UTR	p.S206F	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	866	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	206					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.617C>T	CCDS823.1	.	.	.	.	.	.	.	.	.	.	g	15.20	2.763535	0.49574	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.51	2.59	0.31030	Major facilitator superfamily domain, general substrate transporter (1);	2.864540	0.05690	U	0.591991	T	0.32971	0.0847	L	0.47016	1.485	0.09310	N	0.999998	B;B;B;B	0.20368	0.044;0.011;0.02;0.014	B;B;B;B	0.24701	0.055;0.026;0.02;0.038	T	0.39840	-0.9594	10	0.41790	T	0.15	.	9.3456	0.38107	0.2934:0.0:0.7066:0.0	.	96;144;158;206	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	F	206;158;96;144	ENSP00000358794:S206F;ENSP00000432495:S158F;ENSP00000394790:S96F;ENSP00000446087:S144F	ENSP00000358794:S206F	S	-	2	0	SLC16A4	110723411	0.052000	0.20516	0.346000	0.25655	0.812000	0.45895	1.606000	0.36826	0.808000	0.34231	0.651000	0.88453	TCT		0.423	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		11	33	0	0	0	1	0	11	33				
TANGO6	79613	broad.mit.edu	37	16	68914501	68914501	+	Nonsense_Mutation	SNP	G	G	T	rs372191462		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:68914501G>T	ENST00000261778.1	+	7	1357	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	449						integral component of membrane (GO:0016021)											GACAGAAGAAGAACTTAGTAG	0.303																																						ENST00000261778.1																			0											c.(1345-1347)Gaa>Taa		transport and golgi organization 6 homolog (Drosophila)		G	stop/GLU	0,3678		0,0,1839	198.0	187.0	190.0		1345	4.5	1.0	16		190	1,8183		0,1,4091	no	stop-gained	TMCO7	NM_024562.1		0,1,5930	TT,TG,GG		0.0122,0.0,0.0084		449/1095	68914501	1,11861	1839	4092	5931	SO:0001587	stop_gained	79613							g.chr16:68914501G>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1345G>T	16.37:g.68914501G>T	ENSP00000261778:p.Glu449*						p.E449*	NM_024562.1	NP_078838.1					7	1357	+								Q569F9|Q9H9K1	Nonsense_Mutation	SNP	ENST00000261778.1	37	c.1345G>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	37	6.371799	0.97511	0.0	1.22E-4	ENSG00000103047	ENST00000261778	.	.	.	5.43	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-4.523	13.4391	0.61101	0.0:0.1578:0.8422:0.0	.	.	.	.	X	449	.	ENSP00000261778:E449X	E	+	1	0	TMCO7	67472002	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.933000	0.48948	1.269000	0.44280	0.655000	0.94253	GAA		0.303	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		15	31	1	0	8.60227e-14	1	1.10942e-13	15	31				
REV3L	5980	broad.mit.edu	37	6	111680169	111680169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111680169G>A	ENST00000358835.3	-	18	7382	c.6928C>T	c.(6928-6930)Cga>Tga	p.R2310*	REV3L_ENST00000368802.3_Nonsense_Mutation_p.R2310*|REV3L-IT1_ENST00000411895.1_RNA|REV3L_ENST00000435970.1_Nonsense_Mutation_p.R2232*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.R2310*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2310					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTAAGTCTCGTCTAGTTCGA	0.373								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(6694-6696)Cga>Tga	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							150.0	140.0	143.0					6																	111680169		2203	4300	6503	SO:0001587	stop_gained	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111680169G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6928C>T	6.37:g.111680169G>A	ENSP00000351697:p.Arg2310*					REV3L_ENST00000368802.3_Nonsense_Mutation_p.R2310*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.R2310*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.R2310*	p.R2232*			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	19	7510	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2310					O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	c.6694C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	50	16.548937	0.99866	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	.	.	.	5.65	-1.84	0.07809	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5362	0.99232	0.0:0.0:0.1857:0.8143	.	.	.	.	X	2310;2310;2310;2232;383	.	ENSP00000351697:R2310X	R	-	1	2	REV3L	111786862	1.000000	0.71417	0.987000	0.45799	0.761000	0.43186	1.434000	0.34958	-0.326000	0.08564	-0.319000	0.08680	CGA		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		20	39	0	0	0	1	0	20	39				
CPED1	79974	broad.mit.edu	37	7	120884286	120884286	+	Missense_Mutation	SNP	C	C	T	rs148996529	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120884286C>T	ENST00000310396.5	+	18	2671	c.2204C>T	c.(2203-2205)tCg>tTg	p.S735L	CPED1_ENST00000450913.2_Missense_Mutation_p.S735L|CPED1_ENST00000423795.1_Missense_Mutation_p.S515L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	735						endoplasmic reticulum (GO:0005783)		p.S735L(1)									CTTAGTTGTTCGGACAACAGG	0.468																																						ENST00000310396.5																			1	Substitution - Missense(1)	p.S735L(1)	large_intestine(1)								c.(2203-2205)tCg>tTg		cadherin-like and PC-esterase domain containing 1		C	LEU/SER,LEU/SER	0,4406		0,0,2203	154.0	143.0	146.0		2204,2204	5.3	1.0	7	dbSNP_134	146	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	C7orf58	NM_001105533.1,NM_024913.4	145,145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	735/784,735/1027	120884286	2,13004	2203	4300	6503	SO:0001583	missense	79974							g.chr7:120884286C>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2204C>T	7.37:g.120884286C>T	ENSP00000309772:p.Ser735Leu					CPED1_ENST00000450913.2_Missense_Mutation_p.S735L|CPED1_ENST00000423795.1_Missense_Mutation_p.S515L	p.S735L	NM_024913.4	NP_079189.4					18	2671	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2204C>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599294	0.87055	0.0	2.33E-4	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.26810	2.12;1.71;1.73	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	T	0.49712	0.1573	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.988;0.996	T	0.44498	-0.9324	10	0.51188	T	0.08	.	18.9585	0.92670	0.0:1.0:0.0:0.0	.	515;735;735	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	L	735;735;515	ENSP00000309772:S735L;ENSP00000406122:S735L;ENSP00000415573:S515L	ENSP00000309772:S735L	S	+	2	0	C7orf58	120671522	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.799000	0.75160	2.472000	0.83506	0.460000	0.39030	TCG		0.468	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		29	65	0	0	0	1	0	29	65				
ZNF354B	117608	broad.mit.edu	37	5	178310741	178310741	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310741A>G	ENST00000322434.3	+	5	1514	c.1288A>G	c.(1288-1290)Ata>Gta	p.I430V	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGACACCGAATAATTCATAC	0.358																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1288-1290)Ata>Gta		zinc finger protein 354B							69.0	74.0	72.0					5																	178310741		2203	4300	6503	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310741A>G	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1288A>G	5.37:g.178310741A>G	ENSP00000327143:p.Ile430Val						p.I430V	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1514	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	430					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.1288A>G	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886648	0.33348	.	.	ENSG00000178338	ENST00000322434	T	0.18338	2.22	3.69	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11452	0.0279	N	0.12443	0.215	0.25881	N	0.983586	P	0.38280	0.625	B	0.39119	0.291	T	0.14337	-1.0476	9	0.66056	D	0.02	-1.6144	10.3598	0.43987	1.0:0.0:0.0:0.0	.	430	Q96LW1	Z354B_HUMAN	V	430	ENSP00000327143:I430V	ENSP00000327143:I430V	I	+	1	0	ZNF354B	178243347	0.000000	0.05858	0.998000	0.56505	0.988000	0.76386	-0.055000	0.11807	1.545000	0.49373	0.454000	0.30748	ATA		0.358	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		18	46	0	0	0	1	0	18	46				
USP25	29761	broad.mit.edu	37	21	17214759	17214759	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17214759G>T	ENST00000285679.6	+	18	2606	c.2237G>T	c.(2236-2238)aGa>aTa	p.R746I	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.R746I|USP25_ENST00000285681.2_Missense_Mutation_p.R746I	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	746					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAGCCATCAAGAAGTGATTTC	0.358																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(2236-2238)aGa>aTa		ubiquitin specific peptidase 25							87.0	91.0	89.0					21																	17214759		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17214759G>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2237G>T	21.37:g.17214759G>T	ENSP00000285679:p.Arg746Ile					USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.R746I|USP25_ENST00000400183.2_Missense_Mutation_p.R746I	p.R746I			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	18	2606	+			746					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.2237G>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132451	0.56828	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.23754	1.9;1.9;1.89	5.47	5.47	0.80525	.	0.105285	0.64402	D	0.000003	T	0.26122	0.0637	L	0.44542	1.39	0.49130	D	0.999757	P;B;B	0.37398	0.593;0.228;0.08	B;B;B	0.40506	0.331;0.037;0.027	T	0.01930	-1.1245	10	0.40728	T	0.16	.	12.6381	0.56694	0.0757:0.0:0.9243:0.0	.	746;746;746	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	I	746	ENSP00000285681:R746I;ENSP00000285679:R746I;ENSP00000383044:R746I	ENSP00000285679:R746I	R	+	2	0	USP25	16136630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.172000	0.65003	2.573000	0.86826	0.655000	0.94253	AGA		0.358	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			21	53	1	0	3.62473e-10	1	4.42315e-10	21	53				
SEC63	11231	broad.mit.edu	37	6	108204347	108204347	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:108204347C>T	ENST00000369002.4	-	17	1857	c.1678G>A	c.(1678-1680)Gct>Act	p.A560T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	560					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTACTGCAGCTTCCTAAAAG	0.358																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1678-1680)Gct>Act		SEC63 homolog (S. cerevisiae)							104.0	90.0	94.0					6																	108204347		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108204347C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1678G>A	6.37:g.108204347C>T	ENSP00000357998:p.Ala560Thr						p.A560T	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	17	1857	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	560					O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.1678G>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907646	0.33721	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.62639	0.01	5.15	0.241	0.15494	Sec63 domain (2);	0.465144	0.26241	N	0.025511	T	0.24314	0.0589	L	0.43923	1.385	0.42518	D	0.992998	B;B	0.17465	0.022;0.008	B;B	0.11329	0.006;0.006	T	0.11591	-1.0581	10	0.12430	T	0.62	-0.4223	5.7703	0.18249	0.1248:0.6018:0.0:0.2734	.	560;560	Q9UGP8;B3KQF0	SEC63_HUMAN;.	T	560;211	ENSP00000357998:A560T	ENSP00000357998:A560T	A	-	1	0	SEC63	108311040	0.956000	0.32656	0.843000	0.33291	0.846000	0.48090	0.294000	0.19047	-0.186000	0.10533	-0.142000	0.14014	GCT		0.358	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		7	20	0	0	0	1	0	7	20				
TRIT1	54802	broad.mit.edu	37	1	40319675	40319675	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40319675T>G	ENST00000316891.5	-	3	395	c.381A>C	c.(379-381)gaA>gaC	p.E127D	TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E127D|TRIT1_ENST00000372818.1_Missense_Mutation_p.E127D|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537440.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	127					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGAGCAGAGATTCAATGTAAT	0.363																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(379-381)gaA>gaC		tRNA isopentenyltransferase 1							127.0	123.0	124.0					1																	40319675		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40319675T>G	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.381A>C	1.37:g.40319675T>G	ENSP00000321810:p.Glu127Asp					TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E127D|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E127D	p.E127D	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	395	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	127					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.381A>C	CCDS30681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.36|19.36	3.813455|3.813455	0.70912|0.70912	.|.	.|.	ENSG00000043514|ENSG00000043514	ENST00000046894;ENST00000316891;ENST00000372818;ENST00000544981|ENST00000534869	T;T;T|.	0.42900|.	0.96;0.96;0.96|.	5.48|5.48	-5.59|-5.59	0.02505|0.02505	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64193|0.64193	0.2576|0.2576	L|L	0.58669|0.58669	1.825|1.825	0.58432|0.58432	D|D	0.999997|0.999997	B|.	0.32862|.	0.387|.	P|.	0.45276|.	0.475|.	T|T	0.65726|0.65726	-0.6098|-0.6098	10|6	0.49607|0.27785	T|T	0.09|0.31	-18.5605|-18.5605	15.8988|15.8988	0.79356|0.79356	0.0:0.4228:0.0:0.5772|0.0:0.4228:0.0:0.5772	.|.	127|.	Q9H3H1|.	MOD5_HUMAN|.	D|T	127|69	ENSP00000321810:E127D;ENSP00000361905:E127D;ENSP00000442765:E127D|.	ENSP00000046894:E127D|ENSP00000444187:N69T	E|N	-|-	3|2	2|0	TRIT1|TRIT1	40092262|40092262	0.227000|0.227000	0.23707|0.23707	0.690000|0.690000	0.30148|0.30148	0.991000|0.991000	0.79684|0.79684	-0.289000|-0.289000	0.08365|0.08365	-1.015000|-1.015000	0.03375|0.03375	-0.376000|-0.376000	0.06991|0.06991	GAA|AAT		0.363	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		18	40	0	0	0	1	0	18	40				
ZNF680	340252	broad.mit.edu	37	7	63982090	63982090	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:63982090T>C	ENST00000309683.6	-	4	1193	c.1042A>G	c.(1042-1044)Aaa>Gaa	p.K348E	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTGTAGGGTTTCTCTCCAGTA	0.343																																						ENST00000309683.6																			0				breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(1042-1044)Aaa>Gaa		zinc finger protein 680							30.0	33.0	32.0					7																	63982090		2174	4286	6460	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63982090T>C	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1042A>G	7.37:g.63982090T>C	ENSP00000309330:p.Lys348Glu						p.K348E	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN			4	1193	-		Lung NSC(55;0.118)|all_lung(88;0.243)	348					B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.1042A>G	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	t	16.70	3.195365	0.58126	.	.	ENSG00000173041	ENST00000309683	T	0.27104	1.69	1.36	1.36	0.22044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39600	0.1084	L	0.58354	1.805	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.24048	-1.0171	9	0.87932	D	0	.	4.7382	0.12999	0.0:0.0:0.0:1.0	.	348	Q8NEM1	ZN680_HUMAN	E	348	ENSP00000309330:K348E	ENSP00000309330:K348E	K	-	1	0	ZNF680	63619525	1.000000	0.71417	0.914000	0.36105	0.985000	0.73830	3.937000	0.56575	0.588000	0.29660	0.402000	0.26972	AAA		0.343	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		11	44	0	0	0	1	0	11	44				
ADAMTS3	9508	broad.mit.edu	37	4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:73188757G>A	ENST00000286657.4	-	6	955	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	307	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTATCATGCGCACCAGGACC	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(919-921)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 3							184.0	184.0	184.0					4																	73188757		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73188757G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.919C>T	4.37:g.73188757G>A	ENSP00000286657:p.Arg307Cys					RP11-373J21.1_ENST00000503918.1_RNA	p.R307C	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	955	-			307			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.919C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384852	0.82792	.	.	ENSG00000156140	ENST00000286657	D	0.87412	-2.25	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95106	0.8234	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	307	O15072	ATS3_HUMAN	C	307	ENSP00000286657:R307C	ENSP00000286657:R307C	R	-	1	0	ADAMTS3	73407621	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.572000	0.53849	2.882000	0.98803	0.655000	0.94253	CGC		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			43	89	0	0	0	1	0	43	89				
RB1	5925	broad.mit.edu	37	13	48937070	48937070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48937070G>T	ENST00000267163.4	+	8	976	c.838G>T	c.(838-840)Gaa>Taa	p.E280*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	280					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.E280*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTCTGTAAAGAACATGAATG	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		23	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(2)	p.0?(15)|p.?(6)|p.E280*(2)	bone(11)|breast(5)|large_intestine(2)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM025387	RB1	M		c.(838-840)Gaa>Taa		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						72.0	79.0	76.0					13																	48937070		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48937070G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.838G>T	13.37:g.48937070G>T	ENSP00000267163:p.Glu280*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.E280*	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	8	976	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	280					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.838G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002411	0.93227	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	6.17	6.17	0.99709	.	0.052818	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5813	0.61905	0.0738:0.0:0.9262:0.0	.	.	.	.	X	259;280	.	.	E	+	1	0	RB1	47835071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.641000	0.61375	2.941000	0.99782	0.655000	0.94253	GAA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			22	41	1	0	1.28384e-07	1	1.48174e-07	22	41				
KIAA1033	23325	broad.mit.edu	37	12	105535003	105535003	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105535003T>G	ENST00000332180.5	+	18	1853	c.1766T>G	c.(1765-1767)cTt>cGt	p.L589R		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAACTGGATCTTATTAGTGAA	0.363																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1765-1767)cTt>cGt		KIAA1033							137.0	137.0	137.0					12																	105535003		1847	4089	5936	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105535003T>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1766T>G	12.37:g.105535003T>G	ENSP00000328062:p.Leu589Arg						p.L589R	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			18	1853	+			589						Missense_Mutation	SNP	ENST00000332180.5	37	c.1766T>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.827007	0.71143	.	.	ENSG00000136051	ENST00000332180	T	0.29397	1.57	5.69	5.69	0.88448	.	0.062472	0.64402	D	0.000004	T	0.33847	0.0877	L	0.50333	1.59	0.80722	D	1	P;P	0.35328	0.495;0.495	B;B	0.37304	0.246;0.246	T	0.11421	-1.0588	10	0.54805	T	0.06	.	15.9573	0.79896	0.0:0.0:0.0:1.0	.	590;589	B7ZKT9;Q2M389	.;WASH7_HUMAN	R	589	ENSP00000328062:L589R	ENSP00000328062:L589R	L	+	2	0	KIAA1033	104059133	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.032000	0.88838	2.156000	0.67533	0.528000	0.53228	CTT		0.363	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		32	61	0	0	0	1	0	32	61				
RAB3GAP2	25782	broad.mit.edu	37	1	220386308	220386308	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:220386308T>C	ENST00000358951.2	-	4	423	c.307A>G	c.(307-309)Aaa>Gaa	p.K103E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	103					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TATTTCCATTTTGCTGTAAGA	0.299																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(307-309)Aaa>Gaa		RAB3 GTPase activating protein subunit 2 (non-catalytic)							73.0	67.0	69.0					1																	220386308		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220386308T>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.307A>G	1.37:g.220386308T>C	ENSP00000351832:p.Lys103Glu						p.K103E	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	4	423	-			103					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.307A>G	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215176	0.79352	.	.	ENSG00000118873	ENST00000358951	T	0.35605	1.3	5.41	5.41	0.78517	.	0.043704	0.85682	D	0.000000	T	0.55081	0.1898	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.87578	0.957;0.998	T	0.57723	-0.7762	10	0.87932	D	0	.	15.3976	0.74808	0.0:0.0:0.0:1.0	.	103;103	Q9H2M9-2;Q9H2M9	.;RBGPR_HUMAN	E	103	ENSP00000351832:K103E	ENSP00000351832:K103E	K	-	1	0	RAB3GAP2	218452931	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.915000	0.75770	2.189000	0.69895	0.460000	0.39030	AAA		0.299	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		14	14	0	0	0	1	0	14	14				
BEGAIN	57596	broad.mit.edu	37	14	101005179	101005179	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:101005179G>T	ENST00000355173.2	-	7	980	c.909C>A	c.(907-909)ttC>ttA	p.F303L	BEGAIN_ENST00000443071.2_Missense_Mutation_p.F303L|BEGAIN_ENST00000556751.1_Missense_Mutation_p.F239L|CTD-2062F14.3_ENST00000553301.1_lincRNA	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	303						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				ACGTGGCGCTGAAGCTGGAGT	0.687																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(715-717)ttC>ttA		brain-enriched guanylate kinase-associated																																				SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101005179G>T	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.909C>A	14.37:g.101005179G>T	ENSP00000347301:p.Phe303Leu					BEGAIN_ENST00000443071.2_Missense_Mutation_p.F303L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.F303L	p.F239L			Q9BUH8	BEGIN_HUMAN			5	4121	-		Melanoma(154;0.212)	303					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.717C>A	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010919	0.75046	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.68952	2.095	0.58432	D	0.999998	D	0.71674	0.998	D	0.76071	0.987	T	0.79130	-0.1930	9	0.49607	T	0.09	.	17.1046	0.86659	0.0:0.0:1.0:0.0	.	303	Q9BUH8	BEGIN_HUMAN	L	303;239;303	.	ENSP00000347301:F303L	F	-	3	2	BEGAIN	100074932	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.647000	0.46639	2.036000	0.60181	0.462000	0.41574	TTC		0.687	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		5	15	1	0	1.23904e-05	1	1.36503e-05	5	15				
GART	2618	broad.mit.edu	37	21	34889392	34889392	+	Missense_Mutation	SNP	G	G	A	rs200921953		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34889392G>A	ENST00000381831.3	-	16	2274	c.2011C>T	c.(2011-2013)Cgt>Tgt	p.R671C	GART_ENST00000381839.3_Missense_Mutation_p.R671C|GART_ENST00000381815.4_Missense_Mutation_p.R671C|GART_ENST00000543717.1_Missense_Mutation_p.R223C	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	671	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGTCCTGAACGTAGGACAGGT	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20023	0.0		0.0	False		,,,				2504	0.0					ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(2011-2013)Cgt>Tgt		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						127.0	120.0	122.0					21																	34889392		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34889392G>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2011C>T	21.37:g.34889392G>A	ENSP00000371253:p.Arg671Cys					GART_ENST00000543717.1_Missense_Mutation_p.R223C|GART_ENST00000381815.4_Missense_Mutation_p.R671C|GART_ENST00000381839.3_Missense_Mutation_p.R671C	p.R671C	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			16	2274	-			671			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.2011C>T	CCDS13627.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.4	4.413822	0.83449	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.12	5.12	0.69794	AIR synthase-related protein, C-terminal (2);	0.056217	0.64402	D	0.000001	T	0.47710	0.1460	M	0.83384	2.64	0.80722	D	1	P	0.38129	0.619	P	0.46275	0.51	T	0.53872	-0.8377	10	0.72032	D	0.01	-13.0676	13.5405	0.61671	0.0:0.0:0.8443:0.1557	.	671	P22102	PUR2_HUMAN	C	671;671;671;223	ENSP00000371236:R671C;ENSP00000371253:R671C;ENSP00000371261:R671C;ENSP00000443579:R223C	ENSP00000371236:R671C	R	-	1	0	GART	33811262	1.000000	0.71417	0.970000	0.41538	0.983000	0.72400	6.222000	0.72249	2.376000	0.81061	0.462000	0.41574	CGT		0.448	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		5	93	0	0	0	1	0	5	93				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514997	95514997	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:95514997T>C	ENST00000432432.2	-	0	660				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CAATAAAAATTCCACCATTTT	0.308																																						ENST00000432432.2																			0																																																			0							g.chr2:95514997T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95514997T>C								NR_040113.1						0	660	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.308	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			49	123	0	0	0	1	0	49	123				
KDM4D	55693	broad.mit.edu	37	11	94732052	94732052	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94732052C>T	ENST00000335080.5	+	3	2348	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S	KDM4D_ENST00000536741.1_Missense_Mutation_p.P506S	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	506					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCACTGAGCCCAGGGCTCCA	0.617																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1516-1518)Cca>Tca		lysine (K)-specific demethylase 4D							30.0	29.0	30.0					11																	94732052		2201	4294	6495	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94732052C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1516C>T	11.37:g.94732052C>T	ENSP00000334181:p.Pro506Ser					KDM4D_ENST00000536741.1_Missense_Mutation_p.P506S	p.P506S	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	2348	+			506					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.1516C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285991	0.23478	.	.	ENSG00000186280	ENST00000335080	T	0.35973	1.28	3.24	2.33	0.28932	.	0.277147	0.23435	U	0.048216	T	0.22437	0.0541	L	0.29908	0.895	0.09310	N	1	B	0.21381	0.055	B	0.23150	0.044	T	0.12400	-1.0549	10	0.30854	T	0.27	-2.6262	6.2214	0.20683	0.0:0.8624:0.0:0.1375	.	506	Q6B0I6	KDM4D_HUMAN	S	506	ENSP00000334181:P506S	ENSP00000334181:P506S	P	+	1	0	KDM4D	94371700	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.314000	0.19432	0.936000	0.37367	0.561000	0.74099	CCA		0.617	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		19	24	0	0	0	1	0	19	24				
EFEMP1	2202	broad.mit.edu	37	2	56102133	56102133	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:56102133G>T	ENST00000394555.2	-	8	1383	c.948C>A	c.(946-948)ttC>ttA	p.F316L	EFEMP1_ENST00000394554.1_Missense_Mutation_p.F316L|EFEMP1_ENST00000355426.3_Missense_Mutation_p.F316L|EFEMP1_ENST00000424836.2_Missense_Mutation_p.F178L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	316	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATACATGAGAATTTCCCAG	0.383																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(946-948)ttC>ttA		EGF containing fibulin-like extracellular matrix protein 1							139.0	120.0	127.0					2																	56102133		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56102133G>T	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.948C>A	2.37:g.56102133G>T	ENSP00000378058:p.Phe316Leu					EFEMP1_ENST00000424836.2_Missense_Mutation_p.F178L|EFEMP1_ENST00000394554.1_Missense_Mutation_p.F316L|EFEMP1_ENST00000355426.3_Missense_Mutation_p.F316L	p.F316L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		8	1383	-			316			EGF-like 5; calcium-binding (Potential).|Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.948C>A	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316903	0.60524	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.95918	-3.85;-3.85;-3.83;-3.85	5.66	3.86	0.44501	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000003	D	0.97439	0.9162	M	0.87381	2.88	0.49483	D	0.999796	D;P	0.60575	0.988;0.565	D;B	0.75020	0.985;0.21	D	0.97003	0.9730	10	0.87932	D	0	.	9.7446	0.40440	0.2123:0.0:0.7877:0.0	.	178;316	B4DW75;Q12805	.;FBLN3_HUMAN	L	316;316;172;178;316	ENSP00000378058:F316L;ENSP00000378057:F316L;ENSP00000399145:F178L;ENSP00000347596:F316L	ENSP00000347596:F316L	F	-	3	2	EFEMP1	55955637	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.172000	0.58243	0.753000	0.32945	0.478000	0.44815	TTC		0.383	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			23	26	1	0	7.33628e-21	1	1.00811e-20	23	26				
TNFRSF11B	4982	broad.mit.edu	37	8	119941087	119941087	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:119941087C>T	ENST00000297350.4	-	3	860	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	161					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TGTGTGTTTTCTACAGGGTGC	0.413																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(481-483)aGa>aAa		tumor necrosis factor receptor superfamily, member 11b							214.0	195.0	201.0					8																	119941087		2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119941087C>T	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.482G>A	8.37:g.119941087C>T	ENSP00000297350:p.Arg161Lys						p.R161K	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		3	860	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		161					B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.482G>A	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823452	0.32237	.	.	ENSG00000164761	ENST00000297350	T	0.59638	0.25	5.73	4.85	0.62838	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.330707	0.34879	N	0.003614	T	0.38214	0.1032	N	0.21324	0.655	0.19945	N	0.999943	B	0.18310	0.027	B	0.18871	0.023	T	0.17107	-1.0380	9	.	.	.	-24.9699	6.4051	0.21660	0.2706:0.5982:0.0:0.1311	.	161	O00300	TR11B_HUMAN	K	161	ENSP00000297350:R161K	.	R	-	2	0	TNFRSF11B	120010268	0.007000	0.16637	1.000000	0.80357	0.997000	0.91878	0.660000	0.25009	1.400000	0.46741	0.650000	0.86243	AGA		0.413	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			32	50	0	0	0	1	0	32	50				
CD163L1	283316	broad.mit.edu	37	12	7520728	7520728	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7520728G>T	ENST00000313599.3	-	17	4195	c.4138C>A	c.(4138-4140)Ctc>Atc	p.L1380I	CD163L1_ENST00000416109.2_Missense_Mutation_p.L1390I|CD163L1_ENST00000396630.1_Missense_Mutation_p.L1380I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1380						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACCACGTGAGAAATAGAATA	0.408																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(4138-4140)Ctc>Atc		CD163 molecule-like 1							110.0	108.0	108.0					12																	7520728		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7520728G>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4138C>A	12.37:g.7520728G>T	ENSP00000315945:p.Leu1380Ile					CD163L1_ENST00000396630.1_Missense_Mutation_p.L1380I|CD163L1_ENST00000416109.2_Missense_Mutation_p.L1390I	p.L1380I			Q9NR16	C163B_HUMAN			17	4195	-			1380					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.4138C>A	CCDS8577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.981|7.981	0.751220|0.751220	0.15778|0.15778	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630|ENST00000539726	T;T;T|.	0.01464|.	4.88;4.88;4.86|.	1.52|1.52	0.548|0.548	0.17208|0.17208	.|.	.|.	.|.	.|.	.|.	T|T	0.15478|0.15478	0.0373|0.0373	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;D|.	0.56521|.	0.15;0.976|.	B;P|.	0.52343|.	0.027;0.696|.	T|T	0.27297|0.27297	-1.0078|-1.0078	9|5	0.20519|.	T|.	0.43|.	.|.	4.8264|4.8264	0.13417|0.13417	0.0:0.0:0.6377:0.3623|0.0:0.0:0.6377:0.3623	.|.	1390;1380|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	I|Y	1380;1390;1380|35	ENSP00000315945:L1380I;ENSP00000393474:L1390I;ENSP00000379871:L1380I|.	ENSP00000315945:L1380I|.	L|S	-|-	1|2	0|0	CD163L1|CD163L1	7411995|7411995	0.008000|0.008000	0.16893|0.16893	0.003000|0.003000	0.11579|0.11579	0.055000|0.055000	0.15305|0.15305	0.983000|0.983000	0.29552|0.29552	0.170000|0.170000	0.19704|0.19704	-0.311000|-0.311000	0.09066|0.09066	CTC|TCT		0.408	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		25	64	1	0	1.04121e-07	1	1.21041e-07	25	64				
LZTS2	84445	broad.mit.edu	37	10	102766522	102766522	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:102766522G>A	ENST00000370220.1	+	4	4670	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E	LZTS2_ENST00000370223.3_Missense_Mutation_p.G536E					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGCGGCCGGACTCCGGGAG	0.677																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1606-1608)gGa>gAa		leucine zipper, putative tumor suppressor 2							11.0	14.0	13.0					10																	102766522		2193	4284	6477	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102766522G>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1607G>A	10.37:g.102766522G>A	ENSP00000359240:p.Gly536Glu					LZTS2_ENST00000370223.3_Missense_Mutation_p.G536E	p.G536E			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	4	4670	+			536			Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).			Missense_Mutation	SNP	ENST00000370220.1	37	c.1607G>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493123	0.64186	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.38722	1.12;1.12	5.56	5.56	0.83823	.	0.118957	0.56097	D	0.000021	T	0.39886	0.1095	L	0.31065	0.9	0.52501	D	0.999959	B	0.32968	0.392	B	0.41174	0.349	T	0.11155	-1.0599	10	0.18710	T	0.47	-11.0818	18.3027	0.90169	0.0:0.0:1.0:0.0	.	536	Q9BRK4	LZTS2_HUMAN	E	536	ENSP00000359243:G536E;ENSP00000359240:G536E	ENSP00000314437:G536E	G	+	2	0	LZTS2	102756512	0.974000	0.33945	0.447000	0.26932	0.557000	0.35523	1.738000	0.38207	2.606000	0.88127	0.561000	0.74099	GGA		0.677	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		9	19	0	0	0	1	0	9	19				
PIGC	5279	broad.mit.edu	37	1	172411630	172411630	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172411630T>C	ENST00000367728.1	-	1	1596	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E	PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.K45E|PIGC_ENST00000344529.4_Missense_Mutation_p.K45E|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	45					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TATTGGTATTTCCGAGCATGG	0.488																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(133-135)Aaa>Gaa		phosphatidylinositol glycan anchor biosynthesis, class C							119.0	119.0	119.0					1																	172411630		2203	4300	6503	SO:0001583	missense	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411630T>C	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.133A>G	1.37:g.172411630T>C	ENSP00000356702:p.Lys45Glu					PIGC_ENST00000344529.4_Missense_Mutation_p.K45E|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.K45E|C1orf105_ENST00000367727.4_Intron	p.K45E			Q92535	PIGC_HUMAN			1	1596	-			45					O14491	Missense_Mutation	SNP	ENST00000367728.1	37	c.133A>G	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	T	9.419	1.082456	0.20309	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.43294	0.95;0.95;0.95	5.35	5.35	0.76521	.	0.108322	0.64402	D	0.000006	T	0.14013	0.0339	L	0.35341	1.055	0.80722	D	1	B	0.31125	0.309	B	0.31946	0.138	T	0.04268	-1.0964	10	0.08837	T	0.75	-9.2473	10.0795	0.42381	0.0:0.0:0.2783:0.7217	.	45	Q92535	PIGC_HUMAN	E	45	ENSP00000356701:K45E;ENSP00000356702:K45E;ENSP00000258324:K45E	ENSP00000258324:K45E	K	-	1	0	PIGC	170678253	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.965000	0.56788	2.031000	0.59945	0.533000	0.62120	AAA		0.488	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		61	106	0	0	0	1	0	61	106				
SH3KBP1	30011	broad.mit.edu	37	X	19560162	19560162	+	Silent	SNP	G	G	A	rs199710100		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19560162G>A	ENST00000397821.3	-	16	2063	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	SH3KBP1_ENST00000379716.1_Silent_p.F353F|SH3KBP1_ENST00000379698.4_Silent_p.F554F|SH3KBP1_ENST00000541422.1_Silent_p.F330F	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	591					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTTCCGTGCCGAACAGAGACG	0.647													G|||	2	0.000529801	0.0	0.0014	3775	,	,		13137	0.0		0.001	False		,,,				2504	0.0					ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(1771-1773)ttC>ttT		SH3-domain kinase binding protein 1							84.0	80.0	81.0					X																	19560162		2203	4300	6503	SO:0001819	synonymous_variant	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19560162G>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1773C>T	X.37:g.19560162G>A						SH3KBP1_ENST00000379698.4_Silent_p.F554F|SH3KBP1_ENST00000541422.1_Silent_p.F330F|SH3KBP1_ENST00000379716.1_Silent_p.F353F	p.F591F	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			16	2063	-			591					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	c.1773C>T	CCDS14193.1																																																																																				0.647	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		23	104	0	0	0	1	0	23	104				
PKHD1	5314	broad.mit.edu	37	6	51524753	51524753	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51524753C>T	ENST00000371117.3	-	61	10446	c.10171G>A	c.(10171-10173)Gaa>Aaa	p.E3391K		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3391					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.E3391*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATTTCTGTTCTTCTCTAAAT	0.348																																						ENST00000371117.3																			1	Substitution - Nonsense(1)	p.E3391*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10171-10173)Gaa>Aaa		polycystic kidney and hepatic disease 1 (autosomal recessive)							36.0	31.0	32.0					6																	51524753		2203	4299	6502	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524753C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10171G>A	6.37:g.51524753C>T	ENSP00000360158:p.Glu3391Lys						p.E3391K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	10446	-	Lung NSC(77;0.0605)		3391					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10171G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470775	0.43942	.	.	ENSG00000170927	ENST00000371117	D	0.85861	-2.04	5.38	4.48	0.54585	.	0.226336	0.38005	N	0.001848	T	0.66147	0.2760	L	0.29908	0.895	0.80722	D	1	B	0.25719	0.132	B	0.20184	0.028	T	0.68281	-0.5450	10	0.59425	D	0.04	.	11.791	0.52070	0.0:0.9101:0.0:0.0899	.	3391	P08F94	PKHD1_HUMAN	K	3391	ENSP00000360158:E3391K	ENSP00000360158:E3391K	E	-	1	0	PKHD1	51632712	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.592000	0.53993	1.195000	0.43115	0.655000	0.94253	GAA		0.348	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		9	14	0	0	0	1	0	9	14				
SLC9C1	285335	broad.mit.edu	37	3	111898408	111898408	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111898408T>A	ENST00000305815.5	-	23	3141	c.2889A>T	c.(2887-2889)aaA>aaT	p.K963N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.K915N	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	963					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TGGCAGAATATTTCATAGGTT	0.338																																						ENST00000305815.5																			0											c.(2887-2889)aaA>aaT		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							96.0	103.0	101.0					3																	111898408		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111898408T>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2889A>T	3.37:g.111898408T>A	ENSP00000306627:p.Lys963Asn					SLC9C1_ENST00000487372.1_Missense_Mutation_p.K915N	p.K963N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			23	3141	-			963					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2889A>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159491	0.57368	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.92595	-3.07;-3.07	5.86	4.71	0.59529	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.684102	0.14413	N	0.321175	D	0.84754	0.5542	N	0.08118	0	0.31247	N	0.694491	P;P	0.43231	0.551;0.801	P;B	0.47044	0.535;0.412	T	0.79928	-0.1596	10	0.17369	T	0.5	0.0078	8.5647	0.33531	0.0:0.0866:0.0:0.9134	.	915;963	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	N	963;915	ENSP00000306627:K963N;ENSP00000420688:K915N	ENSP00000306627:K963N	K	-	3	2	SLC9A10	113381098	0.918000	0.31147	0.994000	0.49952	0.967000	0.64934	-0.119000	0.10676	1.059000	0.40554	0.421000	0.28195	AAA		0.338	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		22	46	0	0	0	1	0	22	46				
NAALAD2	10003	broad.mit.edu	37	11	89868834	89868834	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:89868834C>A	ENST00000534061.1	+	2	420	c.190C>A	c.(190-192)Ctt>Att	p.L64I	NAALAD2_ENST00000525171.1_Missense_Mutation_p.L64I|NAALAD2_ENST00000375944.3_Missense_Mutation_p.L64I|NAALAD2_ENST00000321955.4_Missense_Mutation_p.L64I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	64					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAAATCATTTCTTCGGTAAGT	0.343																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(190-192)Ctt>Att		N-acetylated alpha-linked acidic dipeptidase 2							89.0	92.0	91.0					11																	89868834		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89868834C>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.190C>A	11.37:g.89868834C>A	ENSP00000432481:p.Leu64Ile					NAALAD2_ENST00000375944.3_Missense_Mutation_p.L64I|NAALAD2_ENST00000321955.4_Missense_Mutation_p.L64I|NAALAD2_ENST00000525171.1_Missense_Mutation_p.L64I	p.L64I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			2	420	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	64					B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.190C>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217013	0.79352	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T;T	0.70749	-0.51;0.74;0.74;0.74;0.74;0.74	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	D	0.84741	0.5539	M	0.83774	2.66	0.80722	D	1	D;P;D;D;P	0.89917	1.0;0.954;0.999;0.989;0.955	D;P;D;D;P	0.87578	0.998;0.898;0.984;0.979;0.887	D	0.85657	0.1286	9	.	.	.	-21.1633	15.59	0.76521	0.0:1.0:0.0:0.0	.	64;64;64;64;64	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	I	64;64;64;64;64;10	ENSP00000431989:L64I;ENSP00000432481:L64I;ENSP00000320083:L64I;ENSP00000435249:L64I;ENSP00000365111:L64I;ENSP00000435670:L10I	.	L	+	1	0	NAALAD2	89508482	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.856000	0.55964	2.706000	0.92434	0.644000	0.83932	CTT		0.343	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		13	17	1	0	7.03913e-09	1	8.36985e-09	13	17				
SPESP1	246777	broad.mit.edu	37	15	69238254	69238254	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69238254C>T	ENST00000310673.3	+	2	535	c.381C>T	c.(379-381)aaC>aaT	p.N127N	NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	127					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TCAAACCAAACAATGTTTCCA	0.443																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(379-381)aaC>aaT		sperm equatorial segment protein 1							54.0	56.0	55.0					15																	69238254		2200	4298	6498	SO:0001819	synonymous_variant	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238254C>T	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.381C>T	15.37:g.69238254C>T						SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	p.N127N	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	535	+			127					Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	c.381C>T	CCDS10230.1																																																																																				0.443	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		17	38	0	0	0	1	0	17	38				
OR4F15	390649	broad.mit.edu	37	15	102359228	102359228	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:102359228C>A	ENST00000332238.4	+	1	863	c.839C>A	c.(838-840)cCt>cAt	p.P280H		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTTATTACTCCTTTTCTGAAT	0.388																																						ENST00000332238.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19						c.(838-840)cCt>cAt		olfactory receptor, family 4, subfamily F, member 15							129.0	110.0	116.0					15																	102359228		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102359228C>A	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.839C>A	15.37:g.102359228C>A	ENSP00000333184:p.Pro280His						p.P280H	NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	863	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		280					B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.839C>A	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.288229	0.80803	.	.	ENSG00000182854	ENST00000332238	T	0.00349	7.99	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02083	0.0065	H	0.99573	4.635	0.51233	D	0.999912	D	0.89917	1.0	D	0.83275	0.996	T	0.01844	-1.1262	8	.	.	.	.	16.8393	0.85964	0.0:1.0:0.0:0.0	.	280	Q8NGB8	O4F15_HUMAN	H	280	ENSP00000333184:P280H	.	P	+	2	0	OR4F15	100176751	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.136000	0.77285	2.843000	0.97960	0.650000	0.86243	CCT		0.388	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		20	33	1	0	2.39187e-15	1	3.14903e-15	20	33				
LRRC55	219527	broad.mit.edu	37	11	56949434	56949434	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56949434C>A	ENST00000497933.1	+	1	214	c.67C>A	c.(67-69)Ctc>Atc	p.L23I		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GTCACAGACTCTCGATTCCAT	0.602																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(67-69)Ctc>Atc		leucine rich repeat containing 55							81.0	63.0	69.0					11																	56949434		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949434C>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.67C>A	11.37:g.56949434C>A	ENSP00000419542:p.Leu23Ile						p.L23I	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	214	+			0					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.67C>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283459	0.23392	.	.	ENSG00000183908	ENST00000497933	T	0.61040	0.14	4.87	2.93	0.34026	.	2.876120	0.01218	N	0.008024	T	0.58133	0.2101	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.52208	-0.8606	7	0.37606	T	0.19	.	12.8164	0.57667	0.0:0.6153:0.3847:0.0	.	.	.	.	I	23	ENSP00000419542:L23I	ENSP00000419542:L23I	L	+	1	0	LRRC55	56706010	0.003000	0.15002	0.032000	0.17829	0.002000	0.02628	0.750000	0.26334	0.700000	0.31782	-0.165000	0.13383	CTC		0.602	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		21	31	1	0	1.01871e-10	1	1.25646e-10	21	31				
GLIS1	148979	broad.mit.edu	37	1	54060081	54060081	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:54060081C>T	ENST00000312233.2	-	3	1061	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GATAGGGGGGCGGCAGGCCCT	0.682																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(493-495)ccG>ccA		GLIS family zinc finger 1							11.0	13.0	12.0					1																	54060081		2170	4245	6415	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060081C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.495G>A	1.37:g.54060081C>T							p.P165P	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			3	1061	-			165						Silent	SNP	ENST00000312233.2	37	c.495G>A	CCDS582.1																																																																																				0.682	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		7	27	0	0	0	1	0	7	27				
WNT16	51384	broad.mit.edu	37	7	120978941	120978941	+	Missense_Mutation	SNP	G	G	A	rs193080234		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120978941G>A	ENST00000222462.2	+	4	930	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	WNT16_ENST00000361301.2_Missense_Mutation_p.A204T	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	214					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TCAGGCTGTCGCCAAGTTGAT	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18624	0.0		0.0	False		,,,				2504	0.0					ENST00000222462.2																			0				breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18						c.(640-642)Gcc>Acc		wingless-type MMTV integration site family, member 16							49.0	50.0	50.0					7																	120978941		2203	4300	6503	SO:0001583	missense	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120978941G>A	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.640G>A	7.37:g.120978941G>A	ENSP00000222462:p.Ala214Thr					WNT16_ENST00000361301.2_Missense_Mutation_p.A204T	p.A214T	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN			4	930	+	all_neural(327;0.117)		214					Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	c.640G>A	CCDS5781.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.31|12.31	1.899471|1.899471	0.33535|0.33535	.|.	.|.	ENSG00000002745|ENSG00000002745	ENST00000361301;ENST00000222462|ENST00000414945	T;T|.	0.75367|.	-0.93;-0.93|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.247278|.	0.46758|.	D|.	0.000267|.	T|T	0.55909|0.55909	0.1950|0.1950	L|L	0.28115|0.28115	0.83|0.83	0.46028|0.46028	D|D	0.998823|0.998823	B;B|.	0.27117|.	0.168;0.168|.	B;B|.	0.17722|.	0.019;0.019|.	T|T	0.59257|0.59257	-0.7488|-0.7488	10|6	0.10111|0.87932	T|D	0.7|0	.|.	13.0552|13.0552	0.58975|0.58975	0.0739:0.0:0.9261:0.0|0.0739:0.0:0.9261:0.0	.|.	214;204|.	Q9UBV4;E9PH60|.	WNT16_HUMAN;.|.	T|H	204;214|59	ENSP00000355065:A204T;ENSP00000222462:A214T|.	ENSP00000222462:A214T|ENSP00000398322:R59H	A|R	+|+	1|2	0|0	WNT16|WNT16	120766177|120766177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	4.008000|4.008000	0.57103|0.57103	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.418	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		16	43	0	0	0	1	0	16	43				
TRIM23	373	broad.mit.edu	37	5	64907456	64907456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:64907456C>A	ENST00000231524.9	-	4	990	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	TRIM23_ENST00000508808.1_5'Flank|TRIM23_ENST00000274327.7_Nonsense_Mutation_p.E207*|TRIM23_ENST00000381018.3_Nonsense_Mutation_p.E207*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	207					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TTTCCATATTCTTTGCAGACA	0.418																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(619-621)Gaa>Taa		tripartite motif containing 23							154.0	150.0	151.0					5																	64907456		2203	4300	6503	SO:0001587	stop_gained	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64907456C>A	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.619G>T	5.37:g.64907456C>A	ENSP00000231524:p.Glu207*					TRIM23_ENST00000274327.7_Nonsense_Mutation_p.E207*|TRIM23_ENST00000381018.3_Nonsense_Mutation_p.E207*	p.E207*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	4	990	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	207					Q9BZY4|Q9BZY5	Nonsense_Mutation	SNP	ENST00000231524.9	37	c.619G>T	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502529	0.85176	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1363	0.89620	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000231524:E207X	E	-	1	0	TRIM23	64943212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.421000	0.80204	2.347000	0.79759	0.491000	0.48974	GAA		0.418	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		24	47	1	0	3.08376e-08	1	3.62155e-08	24	47				
LAMC3	10319	broad.mit.edu	37	9	133928021	133928021	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133928021T>C	ENST00000361069.4	+	10	1907	c.1774T>C	c.(1774-1776)Tct>Cct	p.S592P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	592	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCTAGCCTGTCTGGCCCCCA	0.637											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1774-1776)Tct>Cct		laminin, gamma 3							24.0	27.0	26.0					9																	133928021		2203	4299	6502	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133928021T>C	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1774T>C	9.37:g.133928021T>C	ENSP00000354360:p.Ser592Pro		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606	LAMC3_ENST00000480883.1_Intron	p.S592P	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	10	1907	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	592			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1774T>C	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256833	0.22965	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.32515	1.45	5.01	-2.54	0.06307	Laminin B type IV (2);	1.057870	0.07302	N	0.874228	T	0.11580	0.0282	N	0.10972	0.075	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29488	-1.0010	10	0.15066	T	0.55	.	0.9576	0.01389	0.2143:0.351:0.1495:0.2852	.	592	Q9Y6N6	LAMC3_HUMAN	P	592	ENSP00000354360:S592P	ENSP00000347156:S592P	S	+	1	0	LAMC3	132917842	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.068000	0.11561	-0.276000	0.09206	0.459000	0.35465	TCT		0.637	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		11	42	0	0	0	1	0	11	42				
ENGASE	64772	broad.mit.edu	37	17	77073826	77073826	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:77073826G>A	ENST00000579016.1	+	3	296	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	99						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.A95_L100delAWKPRL(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGGAAGCCCCGCTTGGAGGAT	0.557																																						ENST00000579016.1																			1	Deletion - In frame(1)	p.A95_L100delAWKPRL(1)	breast(1)	breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(295-297)cGc>cAc		endo-beta-N-acetylglucosaminidase							86.0	89.0	88.0					17																	77073826		1948	4142	6090	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073826G>A	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.296G>A	17.37:g.77073826G>A	ENSP00000462333:p.Arg99His					ENGASE_ENST00000539857.2_5'UTR	p.R99H	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			3	296	+			99					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.296G>A	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	2.868	-0.234723	0.05983	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.92	-9.83	0.00482	.	1.131930	0.06568	N	0.747940	T	0.10465	0.0256	N	0.02011	-0.69	0.09310	N	0.999999	B;B	0.12013	0.0;0.005	B;B	0.04013	0.0;0.001	T	0.34254	-0.9836	9	0.44086	T	0.13	-18.3722	4.0616	0.09841	0.1891:0.2192:0.4497:0.142	.	99;99	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	H	99	.	ENSP00000308158:R99H	R	+	2	0	ENGASE	74585421	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.246000	0.02896	-2.758000	0.00371	-0.440000	0.05779	CGC		0.557	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		33	59	0	0	0	1	0	33	59				
CASC1	55259	broad.mit.edu	37	12	25264728	25264728	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25264728A>C	ENST00000320267.9	-	13	1820	c.1739T>G	c.(1738-1740)tTt>tGt	p.F580C	CASC1_ENST00000395990.2_Missense_Mutation_p.F540C|CASC1_ENST00000557684.1_5'Flank|CASC1_ENST00000354189.5_Missense_Mutation_p.F644C|CASC1_ENST00000537577.1_Missense_Mutation_p.F468C|CASC1_ENST00000395987.3_Missense_Mutation_p.F586C|CASC1_ENST00000545133.1_Missense_Mutation_p.F521C	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	580										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AATAACATAAAAATGAGAGTG	0.294																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1930-1932)tTt>tGt		cancer susceptibility candidate 1							52.0	57.0	55.0					12																	25264728		2202	4296	6498	SO:0001583	missense	55259							g.chr12:25264728A>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1739T>G	12.37:g.25264728A>C	ENSP00000313141:p.Phe580Cys					CASC1_ENST00000395990.2_Missense_Mutation_p.F540C|CASC1_ENST00000320267.9_Missense_Mutation_p.F580C|CASC1_ENST00000537577.1_Missense_Mutation_p.F468C|CASC1_ENST00000395987.3_Missense_Mutation_p.F586C|CASC1_ENST00000545133.1_Missense_Mutation_p.F521C	p.F644C	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		14	1966	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		580					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1931T>G	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.21|13.21	2.168883|2.168883	0.38315|0.38315	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246|ENST00000556006	T;T;T;T;T|.	0.48522|.	0.81;1.41;1.41;0.83;0.83|.	5.09|5.09	2.62|2.62	0.31277|0.31277	.|.	0.361225|0.361225	0.28093|0.28093	N|N	0.016638|0.016638	T|T	0.39517|0.39517	0.1081|0.1081	L|L	0.57536|0.57536	1.79|1.79	0.23430|0.23430	N|N	0.997693|0.997693	D;D;D;D;D|.	0.69078|.	0.993;0.992;0.997;0.973;0.992|.	P;P;P;P;P|.	0.58820|.	0.8;0.794;0.846;0.533;0.794|.	T|T	0.19386|0.19386	-1.0307|-1.0307	10|6	0.37606|.	T|.	0.19|.	-15.8299|-15.8299	3.7007|3.7007	0.08382|0.08382	0.622:0.0:0.1004:0.2776|0.622:0.0:0.1004:0.2776	.|.	468;521;644;580;586|.	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;.;CASC1_HUMAN;.|.	C|L	644;586;580;540;468;521;390|416	ENSP00000346126:F644C;ENSP00000379310:F586C;ENSP00000313141:F580C;ENSP00000379313:F540C;ENSP00000437373:F521C|.	ENSP00000313141:F580C|.	F|F	-|-	2|3	0|2	CASC1|CASC1	25155995|25155995	0.975000|0.975000	0.34042|0.34042	0.997000|0.997000	0.53966|0.53966	0.210000|0.210000	0.24377|0.24377	1.605000|1.605000	0.36815|0.36815	2.054000|2.054000	0.61138|0.61138	0.528000|0.528000	0.53228|0.53228	TTT|TTT		0.294	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		14	22	0	0	0	1	0	14	22				
NBPF1	55672	broad.mit.edu	37	1	16918352	16918352	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16918352C>A	ENST00000430580.2	-	7	1052	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	55						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTATTTCTTCTGTCGGTTGG	0.433																																						ENST00000430580.2																			0											c.(163-165)caG>caT		neuroblastoma breakpoint family, member 1							221.0	225.0	223.0					1																	16918352		2198	4293	6491	SO:0001583	missense	55672					cytoplasm		g.chr1:16918352C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.165G>T	1.37:g.16918352C>A	ENSP00000474456:p.Gln55His						p.Q55H	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	7	1052	-			55					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.165G>T																																																																																					0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		27	642	1	0	3.93418e-24	1	5.51393e-24	27	642				
USP37	57695	broad.mit.edu	37	2	219330886	219330886	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219330886A>C	ENST00000258399.3	-	21	2725	c.2313T>G	c.(2311-2313)ttT>ttG	p.F771L	USP37_ENST00000415516.1_Missense_Mutation_p.F677L|USP37_ENST00000418019.1_Missense_Mutation_p.F771L|USP37_ENST00000454775.1_Missense_Mutation_p.F771L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	771	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTATCTCAGTAAAACTGGCAG	0.378																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(2311-2313)ttT>ttG		ubiquitin specific peptidase 37							111.0	108.0	109.0					2																	219330886		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219330886A>C	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2313T>G	2.37:g.219330886A>C	ENSP00000258399:p.Phe771Leu					USP37_ENST00000415516.1_Missense_Mutation_p.F677L|USP37_ENST00000418019.1_Missense_Mutation_p.F771L|USP37_ENST00000454775.1_Missense_Mutation_p.F771L	p.F771L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	21	2725	-		Renal(207;0.0915)	771					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.2313T>G	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.005350	0.35415	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.38560	1.14;1.14;1.13;1.14	5.46	1.55	0.23275	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.322090	0.33813	N	0.004529	T	0.20047	0.0482	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.004;0.005	B;B	0.10450	0.003;0.005	T	0.04178	-1.0971	10	0.29301	T	0.29	-17.8752	8.7601	0.34669	0.6387:0.0:0.3613:0.0	.	677;771	Q86T82-2;Q86T82	.;UBP37_HUMAN	L	771;771;677;771	ENSP00000258399:F771L;ENSP00000393662:F771L;ENSP00000400902:F677L;ENSP00000396585:F771L	ENSP00000258399:F771L	F	-	3	2	USP37	219039130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.212000	0.32394	0.413000	0.25759	-0.274000	0.10170	TTT		0.378	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		14	40	0	0	0	1	0	14	40				
CYP4B1	1580	broad.mit.edu	37	1	47279612	47279612	+	Missense_Mutation	SNP	G	G	A	rs139750942		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:47279612G>A	ENST00000271153.4	+	6	685	c.649G>A	c.(649-651)Gat>Aat	p.D217N	CYP4B1_ENST00000452782.2_Missense_Mutation_p.D55N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D203N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D218N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	217					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)	TGCAGTCAGCGATCTCACTCT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		21057	0.0		0.0	False		,,,				2504	0.001					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.(649-651)Gat>Aat		cytochrome P450, family 4, subfamily B, polypeptide 1		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	195.0	170.0	178.0		649,652	4.3	0.0	1	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYP4B1	NM_000779.3,NM_001099772.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	217/512,218/513	47279612	1,13005	2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279612G>A	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.649G>A	1.37:g.47279612G>A	ENSP00000271153:p.Asp217Asn					CYP4B1_ENST00000452782.2_Missense_Mutation_p.D55N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D218N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D203N	p.D217N			P13584	CP4B1_HUMAN			6	685	+	Acute lymphoblastic leukemia(166;0.155)		217					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.649G>A	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173086	0.78452	0.0	1.16E-4	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000526297;ENST00000452782;ENST00000468637	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.25	4.34	0.51931	.	0.256451	0.44902	D	0.000408	T	0.61652	0.2364	L	0.52823	1.66	0.58432	D	0.999991	B;P;B;B	0.36282	0.15;0.546;0.103;0.126	B;B;B;B	0.35859	0.027;0.212;0.043;0.072	T	0.62826	-0.6772	10	0.46703	T	0.11	.	13.3403	0.60540	0.0776:0.0:0.9224:0.0	.	55;203;218;217	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	N	218;217;203;55;55;54	ENSP00000360991:D218N;ENSP00000271153:D217N;ENSP00000360987:D203N;ENSP00000438995:D55N;ENSP00000400413:D55N;ENSP00000437670:D54N	ENSP00000271153:D217N	D	+	1	0	CYP4B1	47052199	1.000000	0.71417	0.038000	0.18304	0.632000	0.37999	3.282000	0.51693	1.213000	0.43380	0.484000	0.47621	GAT		0.567	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		58	102	0	0	0	1	0	58	102				
KCTD20	222658	broad.mit.edu	37	6	36442758	36442758	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:36442758A>C	ENST00000373731.2	+	3	744	c.353A>C	c.(352-354)aAa>aCa	p.K118T	KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000536244.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	118	BTB.				protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GCACCAGAGAAAGTGACGCTT	0.433																																						ENST00000373731.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						c.(352-354)aAa>aCa		potassium channel tetramerization domain containing 20							131.0	126.0	127.0					6																	36442758		2203	4300	6503	SO:0001583	missense	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36442758A>C	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.353A>C	6.37:g.36442758A>C	ENSP00000362836:p.Lys118Thr					KCTD20_ENST00000536244.1_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000449081.2_Intron	p.K118T	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN			3	744	+			118			BTB.		B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	c.353A>C	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511691	0.85389	.	.	ENSG00000112078	ENST00000373731	T	0.79653	-1.29	5.26	5.26	0.73747	BTB/POZ-like (1);BTB/POZ fold (1);	0.075820	0.52532	D	0.000063	T	0.74160	0.3680	L	0.39898	1.24	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	T	0.78265	-0.2271	10	0.56958	D	0.05	-26.7196	9.7847	0.40668	0.9239:0.0:0.0761:0.0	.	118	Q7Z5Y7	KCD20_HUMAN	T	118	ENSP00000362836:K118T	ENSP00000362836:K118T	K	+	2	0	KCTD20	36550736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.108000	0.77055	2.207000	0.71202	0.533000	0.62120	AAA		0.433	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		5	60	0	0	0	1	0	5	60				
CRYBG3	131544	broad.mit.edu	37	3	97655650	97655650	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97655650C>A	ENST00000182096.4	+	16	2623	c.2559C>A	c.(2557-2559)tcC>tcA	p.S853S	CRYBG3_ENST00000389622.2_Silent_p.S60S|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2801							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATGAAGGATCCAATTTCTTGG	0.393																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2557-2559)tcC>tcA		beta-gamma crystallin domain containing 3							97.0	87.0	90.0					3																	97655650		1838	4099	5937	SO:0001819	synonymous_variant	131544							g.chr3:97655650C>A			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2559C>A	3.37:g.97655650C>A						CRYBG3_ENST00000389622.2_Silent_p.S60S|CRYBG3_ENST00000485253.1_3'UTR	p.S853S	NM_153605.3	NP_705833.3					16	2623	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	ENST00000182096.4	37	c.2559C>A																																																																																					0.393	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		14	18	1	0	3.35478e-16	1	4.45534e-16	14	18				
CERKL	375298	broad.mit.edu	37	2	182412416	182412416	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182412416G>A	ENST00000339098.5	-	11	1274	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	CERKL_ENST00000409440.3_Silent_p.F381F|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000410087.3_Silent_p.F399F|CERKL_ENST00000374970.2_Silent_p.F330F|CERKL_ENST00000374969.2_Silent_p.F286F			Q49MI3	CERKL_HUMAN	ceramide kinase-like	425					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGACATTCAAGAACTGACCCT	0.403																																						ENST00000410087.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32						c.(1195-1197)ttC>ttT		ceramide kinase-like							144.0	141.0	142.0					2																	182412416		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	g.chr2:182412416G>A	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1275C>T	2.37:g.182412416G>A						CERKL_ENST00000339098.5_Silent_p.F425F|CERKL_ENST00000374969.2_Silent_p.F286F|CERKL_ENST00000374970.2_Silent_p.F330F|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Silent_p.F381F	p.F399F	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		10	1297	-			425					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Silent	SNP	ENST00000339098.5	37	c.1197C>T	CCDS42789.1																																																																																				0.403	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			47	90	0	0	0	1	0	47	90				
TAS1R3	83756	broad.mit.edu	37	1	1268175	1268175	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1268175A>C	ENST00000339381.5	+	3	1296	c.1264A>C	c.(1264-1266)Aag>Cag	p.K422Q		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	422					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGACCCCGTGAAGCCCTGGCA	0.672																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1264-1266)Aag>Cag		taste receptor, type 1, member 3	Aspartame(DB00168)						21.0	23.0	22.0					1																	1268175		2197	4294	6491	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268175A>C	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1264A>C	1.37:g.1268175A>C	ENSP00000344411:p.Lys422Gln						p.K422Q	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	3	1296	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	422					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1264A>C	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	A	7.120	0.577756	0.13686	.	.	ENSG00000169962	ENST00000339381	D	0.85955	-2.05	4.59	2.61	0.31194	Extracellular ligand-binding receptor (1);	2.120880	0.02207	N	0.062843	T	0.70298	0.3208	N	0.01779	-0.725	0.09310	N	1	B	0.16166	0.016	B	0.16722	0.016	T	0.57596	-0.7784	10	0.18710	T	0.47	.	12.7456	0.57280	0.5279:0.4721:0.0:0.0	.	422	Q7RTX0	TS1R3_HUMAN	Q	422	ENSP00000344411:K422Q	ENSP00000344411:K422Q	K	+	1	0	TAS1R3	1258038	0.002000	0.14202	0.068000	0.19968	0.272000	0.26649	0.126000	0.15769	0.329000	0.23460	-0.396000	0.06452	AAG		0.672	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			13	24	0	0	0	1	0	13	24				
SLC5A7	60482	broad.mit.edu	37	2	108614432	108614432	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:108614432T>G	ENST00000264047.2	+	5	863	c.587T>G	c.(586-588)tTt>tGt	p.F196C	SLC5A7_ENST00000540517.1_Missense_Mutation_p.F91C|SLC5A7_ENST00000409059.1_Missense_Mutation_p.F196C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	196					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTTGCATTTTTGTAGGGCTG	0.398																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(586-588)tTt>tGt		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						189.0	170.0	176.0					2																	108614432		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108614432T>G	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.587T>G	2.37:g.108614432T>G	ENSP00000264047:p.Phe196Cys					SLC5A7_ENST00000409059.1_Missense_Mutation_p.F196C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.F91C	p.F196C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			5	863	+			196					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.587T>G	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987272	0.74589	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88046	-2.33;-2.33;-2.33	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95756	0.8796	10	0.87932	D	0	-31.7527	14.9248	0.70868	0.0:0.0:0.0:1.0	.	196	Q9GZV3	SC5A7_HUMAN	C	196;91;196	ENSP00000387346:F196C;ENSP00000445351:F91C;ENSP00000264047:F196C	ENSP00000264047:F196C	F	+	2	0	SLC5A7	107980864	1.000000	0.71417	0.752000	0.31206	0.844000	0.47949	8.040000	0.89188	1.937000	0.56155	0.533000	0.62120	TTT		0.398	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			27	52	0	0	0	1	0	27	52				
LAMP2	3920	broad.mit.edu	37	X	119565273	119565273	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119565273C>T	ENST00000200639.4	-	9	1274	c.1138G>A	c.(1138-1140)Gcg>Acg	p.A380T	LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	380					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GCTCCCACCGCTATGGGCACA	0.438																																						ENST00000200639.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(1138-1140)Gcg>Acg		lysosomal-associated membrane protein 2							172.0	160.0	164.0					X																	119565273		2203	4300	6503	SO:0001583	missense	0				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119565273C>T	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1138G>A	X.37:g.119565273C>T	ENSP00000200639:p.Ala380Thr					LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron	p.A380T			P13473	LAMP2_HUMAN			9	1274	-			380					A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.1138G>A	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021719	0.93462	.	.	ENSG00000005893	ENST00000200639	T	0.38722	1.12	5.82	5.82	0.92795	Lysosome-associated membrane glycoprotein, conserved site (1);	.	.	.	.	T	0.64204	0.2577	M	0.86420	2.815	0.80722	D	1	P	0.44877	0.845	P	0.52856	0.711	T	0.67118	-0.5751	9	0.45353	T	0.12	.	17.5321	0.87817	0.0:1.0:0.0:0.0	.	380	P13473	LAMP2_HUMAN	T	380	ENSP00000200639:A380T	ENSP00000200639:A380T	A	-	1	0	LAMP2	119449301	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.237000	0.58681	2.461000	0.83175	0.597000	0.82753	GCG		0.438	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			76	170	0	0	0	1	0	76	170				
CPNE8	144402	broad.mit.edu	37	12	39242380	39242380	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:39242380C>T	ENST00000331366.5	-	4	367	c.271G>A	c.(271-273)Gag>Aag	p.E91K	CPNE8_ENST00000360449.3_Missense_Mutation_p.E79K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	91	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CGAAGATTCTCTCTTTCTTCA	0.308																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(271-273)Gag>Aag		copine VIII							36.0	38.0	38.0					12																	39242380		2197	4284	6481	SO:0001583	missense	144402							g.chr12:39242380C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.271G>A	12.37:g.39242380C>T	ENSP00000329748:p.Glu91Lys					CPNE8_ENST00000360449.3_Missense_Mutation_p.E79K	p.E91K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			4	367	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	91			C2 1.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.271G>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831537	0.50845	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.42900	0.96;0.96	3.8	3.8	0.43715	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.078495	0.52532	D	0.000079	T	0.24392	0.0591	N	0.05330	-0.07	0.47584	D	0.999467	B	0.14012	0.009	B	0.23275	0.045	T	0.11470	-1.0586	10	0.87932	D	0	-18.157	10.9202	0.47161	0.0:0.6782:0.3217:0.0	.	91	Q86YQ8	CPNE8_HUMAN	K	91;79	ENSP00000329748:E91K;ENSP00000353633:E79K	ENSP00000329748:E91K	E	-	1	0	CPNE8	37528647	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.056000	0.57448	2.045000	0.60652	0.484000	0.47621	GAG		0.308	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		6	24	0	0	0	1	0	6	24				
ZPLD1	131368	broad.mit.edu	37	3	102187875	102187875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:102187875G>T	ENST00000491959.1	+	15	1711	c.829G>T	c.(829-831)Gaa>Taa	p.E277*	ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.E277*|ZPLD1_ENST00000306176.1_Nonsense_Mutation_p.E293*			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	277	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTTTTCTTTTGAAGTGTTCCG	0.478																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(877-879)Gaa>Taa		zona pellucida-like domain containing 1							91.0	91.0	91.0					3																	102187875		2203	4300	6503	SO:0001587	stop_gained	131368					integral to membrane		g.chr3:102187875G>T	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.829G>T	3.37:g.102187875G>T	ENSP00000420265:p.Glu277*					ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.E277*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.E277*	p.E293*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			8	977	+			277			ZP.		Q49AS1|Q8WU36	Nonsense_Mutation	SNP	ENST00000491959.1	37	c.877G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.476637	0.98309	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-15.4672	19.3006	0.94143	0.0:0.0:1.0:0.0	.	.	.	.	X	277;293;277	.	ENSP00000307801:E293X	E	+	1	0	ZPLD1	103670565	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.848000	0.99507	2.571000	0.86741	0.462000	0.41574	GAA		0.478	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		16	41	1	0	1.3612e-06	1	1.53357e-06	16	41				
UPF3B	65109	broad.mit.edu	37	X	118979216	118979216	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118979216T>A	ENST00000276201.2	-	4	483	c.414A>T	c.(412-414)aaA>aaT	p.K138N	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.K138N	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	138	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTTTGCAGCTTTTTGAAAAG	0.343																																						ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(412-414)aaA>aaT		UPF3 regulator of nonsense transcripts homolog B (yeast)							128.0	116.0	120.0					X																	118979216		2202	4300	6502	SO:0001583	missense	0				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118979216T>A	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.414A>T	X.37:g.118979216T>A	ENSP00000276201:p.Lys138Asn					UPF3B_ENST00000345865.2_Missense_Mutation_p.K138N|UPF3B_ENST00000478840.1_5'UTR	p.K138N	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN			4	483	-			138			Necessary for interaction with UPF2.|Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.414A>T	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004498	0.74932	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.70282	-0.47;-0.47	5.12	5.12	0.69794	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.85373	2.75	0.54753	D	0.999988	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.87302	0.2306	10	0.87932	D	0	.	13.1091	0.59263	0.0:0.0:0.0:1.0	.	138;138	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	N	138	ENSP00000276201:K138N;ENSP00000245418:K138N	ENSP00000276201:K138N	K	-	3	2	UPF3B	118863244	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.909000	0.39917	1.688000	0.51068	0.481000	0.45027	AAA		0.343	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			25	38	0	0	0	1	0	25	38				
IGSF1	3547	broad.mit.edu	37	X	130412665	130412665	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130412665G>A	ENST00000361420.3	-	12	1890	c.1811C>T	c.(1810-1812)cCg>cTg	p.P604L	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.P595L|IGSF1_ENST00000370904.1_Missense_Mutation_p.P595L|IGSF1_ENST00000370903.3_Missense_Mutation_p.P609L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	604	Ig-like C2-type 6.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTCTTCCACGGGGCCAGAGG	0.557																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1783-1785)cCg>cTg		immunoglobulin superfamily, member 1							66.0	66.0	66.0					X																	130412665		2203	4297	6500	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130412665G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1811C>T	X.37:g.130412665G>A	ENSP00000355010:p.Pro604Leu					IGSF1_ENST00000361420.3_Missense_Mutation_p.P604L|IGSF1_ENST00000370903.3_Missense_Mutation_p.P609L|IGSF1_ENST00000370910.1_Missense_Mutation_p.P595L	p.P595L			Q8N6C5	IGSF1_HUMAN			18	2694	-			604			Ig-like C2-type 6.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1784C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	g	13.40	2.226799	0.39399	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.09	5.09	0.68999	Immunoglobulin-like fold (1);	0.393007	0.21963	N	0.066577	T	0.31231	0.0790	L	0.54863	1.705	0.45962	D	0.998787	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.97110	0.891;1.0;0.998	T	0.00814	-1.1555	10	0.38643	T	0.18	.	13.1782	0.59639	0.0:0.0:1.0:0.0	.	595;48;604	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	L	595;604;595;609	ENSP00000359947:P595L;ENSP00000355010:P604L;ENSP00000359941:P595L;ENSP00000359940:P609L	ENSP00000355010:P604L	P	-	2	0	IGSF1	130240346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.051000	0.49885	2.262000	0.75019	0.597000	0.82753	CCG		0.557	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			39	100	0	0	0	1	0	39	100				
BDNF	627	broad.mit.edu	37	11	27695654	27695654	+	5'UTR	SNP	C	C	T	rs368243822		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:27695654C>T	ENST00000420794.1	-	0	318				BDNF_ENST00000525950.1_Intron|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395983.3_Intron|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000533131.1_Intron|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000438929.1_Missense_Mutation_p.V60I|BDNF_ENST00000584049.1_Intron|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000533246.1_Intron|BDNF-AS_ENST00000501663.2_RNA|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000356660.4_Intron|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000530861.1_Intron|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000314915.6_Intron	NM_001143811.1	NP_001137283.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						TCCACTGAAACGTGGAGGTAC	0.453																																						ENST00000438929.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(178-180)Gtt>Att		brain-derived neurotrophic factor		C	,,,,,,,,,,,,,,ILE/VAL	0,3134		0,0,1567	55.0	49.0	51.0		,,,,,,,,,,,,,,178	-0.3	0.0	11		51	1,7161		0,1,3580	no	intron,intron,intron,intron,intron,utr-5,intron,intron,intron,intron,intron,intron,intron,intron,missense	BDNF	NM_001143805.1,NM_001143806.1,NM_001143807.1,NM_001143808.1,NM_001143809.1,NM_001143811.1,NM_001143812.1,NM_001143813.1,NM_001143814.1,NM_001709.4,NM_170731.4,NM_170732.4,NM_170733.3,NM_170734.3,NM_001143810.1	,,,,,,,,,,,,,,29	0,1,5147	TT,TC,CC		0.014,0.0,0.0097	,,,,,,,,,,,,,,benign	,,,,,,,,,,,,,,60/330	27695654	1,10295	1567	3581	5148	SO:0001623	5_prime_UTR_variant	627					extracellular region	growth factor activity	g.chr11:27695654C>T	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000420794.1:c.-186G>A	11.37:g.27695654C>T						BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Intron|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000533131.1_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000530861.1_Intron|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000395978.3_Intron|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_Intron|BDNF-AS_ENST00000501663.2_RNA|BDNF_ENST00000420794.1_5'UTR|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA	p.V60I	NM_001143810.1	NP_001137282.1	P23560	BDNF_HUMAN			2	318	-			0					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000420794.1	37	c.178G>A	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191278	0.09547	0.0	1.4E-4	ENSG00000176697	ENST00000438929	T	0.57436	0.4	5.78	-0.3	0.12804	.	.	.	.	.	T	0.32615	0.0835	.	.	.	0.18873	N	0.999989	B	0.15141	0.012	B	0.14023	0.01	T	0.18085	-1.0348	8	0.26408	T	0.33	.	5.8891	0.18897	0.0:0.3855:0.1329:0.4816	.	60	P23560-4	.	I	60	ENSP00000414303:V60I	ENSP00000414303:V60I	V	-	1	0	BDNF	27652230	0.000000	0.05858	0.001000	0.08648	0.384000	0.30261	-0.375000	0.07475	-0.357000	0.08175	0.655000	0.94253	GTT		0.453	BDNF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_170735		8	12	0	0	0	1	0	8	12				
MEF2C	4208	broad.mit.edu	37	5	88018554	88018554	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:88018554G>A	ENST00000437473.2	-	11	1706	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	MEF2C_ENST00000514015.1_Missense_Mutation_p.S398L|MEF2C_ENST00000424173.2_Missense_Mutation_p.S420L|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000539796.1_Missense_Mutation_p.S374L|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000508569.1_Missense_Mutation_p.S390L|MEF2C_ENST00000514028.1_Missense_Mutation_p.S430L|MEF2C_ENST00000504921.2_Missense_Mutation_p.S430L|MEF2C_ENST00000510942.1_Missense_Mutation_p.S422L|MEF2C_ENST00000340208.5_Missense_Mutation_p.S440L	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	430					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CCCGTCGTACGAACTGCTACA	0.592										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(1288-1290)tCg>tTg		myocyte enhancer factor 2C							127.0	134.0	132.0					5																	88018554		2031	4198	6229	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88018554G>A	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1289C>T	5.37:g.88018554G>A	ENSP00000396219:p.Ser430Leu	HNSCC(66;0.2)				MEF2C_ENST00000340208.5_Missense_Mutation_p.S440L|MEF2C_ENST00000514028.1_Missense_Mutation_p.S430L|MEF2C_ENST00000508569.1_Missense_Mutation_p.S390L|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000510942.1_Missense_Mutation_p.S422L|MEF2C_ENST00000539796.1_Missense_Mutation_p.S374L|MEF2C_ENST00000424173.2_Missense_Mutation_p.S420L|MEF2C_ENST00000514015.1_Missense_Mutation_p.S398L|MEF2C_ENST00000437473.2_Missense_Mutation_p.S430L|MEF2C_ENST00000506554.1_3'UTR	p.S430L			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	10	1961	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	430					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.1289C>T	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202896	0.79127	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T	0.70986	-0.11;-0.09;-0.08;-0.07;-0.07;-0.07;-0.47;-0.53;0.3	5.69	5.69	0.88448	.	0.052149	0.85682	D	0.000000	D	0.84019	0.5380	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.76494	0.979;0.989;0.999;0.988	P;P;D;P	0.71656	0.772;0.746;0.974;0.629	D	0.84692	0.0723	10	0.87932	D	0	-3.3484	19.7913	0.96458	0.0:0.0:1.0:0.0	.	420;440;430;422	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	L	440;420;430;430;430;422;390;398;374	ENSP00000340874:S440L;ENSP00000389610:S420L;ENSP00000421925:S430L;ENSP00000426665:S430L;ENSP00000396219:S430L;ENSP00000422390:S422L;ENSP00000423597:S390L;ENSP00000424606:S398L;ENSP00000441153:S374L	ENSP00000340874:S440L	S	-	2	0	MEF2C	88054310	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.420000	0.97426	2.840000	0.97914	0.655000	0.94253	TCG		0.592	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		18	114	0	0	0	1	0	18	114				
TROAP	10024	broad.mit.edu	37	12	49725173	49725173	+	Missense_Mutation	SNP	G	G	A	rs561170792		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49725173G>A	ENST00000257909.3	+	14	2351	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	TROAP_ENST00000547923.1_Missense_Mutation_p.E438K|TROAP_ENST00000551245.1_Missense_Mutation_p.E849K	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	759					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TACATTACTCGAATGGCAGGA	0.642											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		17849	0.0		0.0	False		,,,				2504	0.001					ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(2545-2547)Gaa>Aaa		trophinin associated protein							50.0	48.0	49.0					12																	49725173		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49725173G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2275G>A	12.37:g.49725173G>A	ENSP00000257909:p.Glu759Lys		OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	TROAP_ENST00000547923.1_Missense_Mutation_p.E438K|TROAP_ENST00000257909.3_Missense_Mutation_p.E759K	p.E849K			Q12815	TROAP_HUMAN			13	2656	+			350					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.2545G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191162	0.78902	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.93	5.04	0.67666	.	0.201112	0.34245	N	0.004128	T	0.43211	0.1237	L	0.47190	1.495	0.33849	D	0.632448	D;D;P	0.56287	0.975;0.975;0.938	B;B;B	0.43386	0.418;0.344;0.327	T	0.62746	-0.6789	9	0.87932	D	0	-4.9004	11.1817	0.48631	0.0843:0.0:0.9157:0.0	.	849;438;759	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	K	849;759;438	.	ENSP00000257909:E759K	E	+	1	0	TROAP	48011440	0.999000	0.42202	0.847000	0.33407	0.985000	0.73830	3.780000	0.55386	1.522000	0.49001	0.561000	0.74099	GAA		0.642	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		24	55	0	0	0	1	0	24	55				
ZNF518A	9849	broad.mit.edu	37	10	97920080	97920080	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97920080C>A	ENST00000534948.1	+	0	4858							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCTTTTAGTTCTAAACAGCTT	0.393																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							74.0	73.0	73.0					10																	97920080		1837	4078	5915			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97920080C>A	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97920080C>A										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	4858	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.393	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		24	34	1	0	1.9806e-07	1	2.28356e-07	24	34				
ZNF724P	440519	broad.mit.edu	37	19	23406199	23406199	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23406199T>C	ENST00000418100.1	-	4	965	c.848A>G	c.(847-849)aAa>aGa	p.K283R				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	283					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(1)|lung(2)|ovary(2)	8						TTCTTTACATTTGTAGGCATT	0.373																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(847-849)aAa>aGa																																						SO:0001583	missense	0							g.chr19:23406199T>C			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.848A>G	19.37:g.23406199T>C	ENSP00000413411:p.Lys283Arg						p.K283R							4	965	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.848A>G		.	.	.	.	.	.	.	.	.	.	T	4.826	0.153630	0.09185	.	.	ENSG00000196081	ENST00000418100	T	0.56941	0.43	1.09	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34077	0.0885	.	.	.	0.09310	N	1	B	0.31125	0.309	B	0.17098	0.017	T	0.20605	-1.0270	8	0.56958	D	0.05	.	4.7662	0.13134	0.0:0.0:0.3233:0.6767	.	283	A8MTY0	ZN724_HUMAN	R	283	ENSP00000413411:K283R	ENSP00000413411:K283R	K	-	2	0	ZNF724P	23198039	0.000000	0.05858	0.090000	0.20809	0.080000	0.17528	-1.029000	0.03585	0.413000	0.25759	0.402000	0.26972	AAA		0.373	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			7	16	0	0	0	1	0	7	16				
ODF2L	57489	broad.mit.edu	37	1	86826116	86826116	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:86826116T>G	ENST00000359242.3	-	12	1528	c.1247A>C	c.(1246-1248)aAa>aCa	p.K416T	ODF2L_ENST00000370567.1_Missense_Mutation_p.K387T|ODF2L_ENST00000370566.3_Missense_Mutation_p.K387T|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000394731.1_Missense_Mutation_p.K256T|ODF2L_ENST00000294678.2_Missense_Mutation_p.K387T|ODF2L_ENST00000317336.7_Missense_Mutation_p.K416T	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	416						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CACCTGAGTTTTATACATTTC	0.294																																						ENST00000359242.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(1246-1248)aAa>aCa		outer dense fiber of sperm tails 2-like							77.0	82.0	81.0					1																	86826116		2202	4294	6496	SO:0001583	missense	57489					centrosome		g.chr1:86826116T>G		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1247A>C	1.37:g.86826116T>G	ENSP00000359600:p.Lys416Thr					ODF2L_ENST00000370567.1_Missense_Mutation_p.K387T|ODF2L_ENST00000370566.3_Missense_Mutation_p.K387T|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Missense_Mutation_p.K416T|ODF2L_ENST00000394731.1_Missense_Mutation_p.K256T|ODF2L_ENST00000294678.2_Missense_Mutation_p.K387T	p.K416T	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	12	1528	-			416					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.1247A>C	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.78|15.78	2.933120|2.933120	0.52866|0.52866	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000459999|ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678;ENST00000479890	.|T;T;T;T;T;T;T;T	.|0.78364	.|1.48;1.3;-1.17;1.36;1.46;1.48;-1.17;1.01	5.95|5.95	4.83|4.83	0.62350|0.62350	.|.	0.295434|0.295434	0.42172|0.42172	N|D	0.000747|0.000747	T|T	0.74966|0.74966	0.3786|0.3786	L|L	0.59436|0.59436	1.845|1.845	0.28480|0.28480	N|N	0.915017|0.915017	.|D;D;D;D;D;D	.|0.76494	.|0.977;0.991;0.999;0.993;0.996;0.996	.|P;P;D;P;P;P	.|0.64687	.|0.787;0.79;0.928;0.888;0.842;0.842	T|T	0.69483|0.69483	-0.5133|-0.5133	7|10	0.46703|0.39692	T|T	0.11|0.17	-14.6986|-14.6986	8.9471|8.9471	0.35764|0.35764	0.0:0.0855:0.0:0.9145|0.0:0.0855:0.0:0.9145	.|.	.|387;387;416;387;387;416	.|B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.|.;.;.;.;.;ODF2L_HUMAN	Q|T	236|387;387;416;263;416;387;256;387;217	.|ENSP00000359597:K387T;ENSP00000359600:K416T;ENSP00000433092:K263T;ENSP00000320165:K416T;ENSP00000359598:K387T;ENSP00000378219:K256T;ENSP00000294678:K387T;ENSP00000432834:K217T	ENSP00000436849:K236Q|ENSP00000294678:K387T	K|K	-|-	1|2	0|0	ODF2L|ODF2L	86598704|86598704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.275000|0.275000	0.26752|0.26752	2.511000|2.511000	0.45476|0.45476	1.092000|1.092000	0.41356|0.41356	0.402000|0.402000	0.26972|0.26972	AAA|AAA		0.294	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			9	22	0	0	0	1	0	9	22				
USP25	29761	broad.mit.edu	37	21	17250772	17250772	+	Missense_Mutation	SNP	G	G	A	rs549945211	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17250772G>A	ENST00000285679.6	+	24	3515	c.3146G>A	c.(3145-3147)cGa>cAa	p.R1049Q	USP25_ENST00000351097.5_Missense_Mutation_p.R444Q|USP25_ENST00000400183.2_Missense_Mutation_p.R1119Q|USP25_ENST00000285681.2_Missense_Mutation_p.R1081Q	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1049					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.R1049Q(2)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCCCTCAGTCGAACTCCTGCT	0.438													G|||	2	0.000399361	0.0	0.0	5008	,	,		17817	0.0		0.0	False		,,,				2504	0.002					ENST00000285681.2																			2	Substitution - Missense(2)	p.R1049Q(2)	large_intestine(2)	breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(3241-3243)cGa>cAa		ubiquitin specific peptidase 25							110.0	100.0	103.0					21																	17250772		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17250772G>A	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.3146G>A	21.37:g.17250772G>A	ENSP00000285679:p.Arg1049Gln					USP25_ENST00000351097.5_Missense_Mutation_p.R444Q|USP25_ENST00000285679.6_Missense_Mutation_p.R1049Q|USP25_ENST00000400183.2_Missense_Mutation_p.R1119Q	p.R1081Q			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	25	3611	+			1049					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.3242G>A	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560817	0.65538	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.33216	1.82;1.83;1.42;1.82	5.92	5.92	0.95590	.	0.233302	0.42821	D	0.000646	T	0.43722	0.1260	L	0.41236	1.265	0.38800	D	0.955174	D;D;D;P	0.71674	0.998;0.996;0.979;0.955	P;P;P;B	0.56563	0.759;0.801;0.638;0.357	T	0.10245	-1.0638	10	0.36615	T	0.2	-10.4026	20.3172	0.98658	0.0:0.0:1.0:0.0	.	1119;444;1081;1049	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	Q	1081;1049;444;1119	ENSP00000285681:R1081Q;ENSP00000285679:R1049Q;ENSP00000299574:R444Q;ENSP00000383044:R1119Q	ENSP00000285679:R1049Q	R	+	2	0	USP25	16172643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.325000	0.65869	2.801000	0.96364	0.650000	0.86243	CGA		0.438	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			17	31	0	0	0	1	0	17	31				
TRIM41	90933	broad.mit.edu	37	5	180651723	180651723	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:180651723G>A	ENST00000315073.5	+	1	1434	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.E242K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	242					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E242*(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGAGGTAGACGAAGAGGCCAT	0.587																																						ENST00000315073.5																			1	Substitution - Nonsense(1)	p.E242*(1)	NS(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(724-726)Gaa>Aaa		tripartite motif containing 41							73.0	64.0	67.0					5																	180651723		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651723G>A	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.724G>A	5.37:g.180651723G>A	ENSP00000320869:p.Glu242Lys					CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.E242K	p.E242K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1434	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	242					B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.724G>A	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078408	0.55753	.	.	ENSG00000146063	ENST00000351937;ENST00000315073;ENST00000421508	T;T	0.43294	0.95;0.95	5.01	5.01	0.66863	Zinc finger, B-box (3);	0.000000	0.56097	D	0.000038	T	0.33235	0.0856	N	0.16656	0.425	0.40360	D	0.979235	P;P;D	0.55605	0.732;0.938;0.972	B;P;P	0.47981	0.388;0.482;0.563	T	0.07404	-1.0774	10	0.16420	T	0.52	.	15.8362	0.78799	0.0:0.0:1.0:0.0	.	242;242;242	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	K	242;242;121	ENSP00000336749:E242K;ENSP00000320869:E242K	ENSP00000320869:E242K	E	+	1	0	TRIM41	180584329	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.198000	0.42705	2.310000	0.77875	0.491000	0.48974	GAA		0.587	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		26	54	0	0	0	1	0	26	54				
FER1L6	654463	broad.mit.edu	37	8	125088538	125088538	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125088538C>T	ENST00000522917.1	+	32	4398	c.4192C>T	c.(4192-4194)Cct>Tct	p.P1398S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1398S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1398	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TAAATACATCCCTAAACAACT	0.443																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(4192-4194)Cct>Tct		fer-1-like 6 (C. elegans)							175.0	171.0	172.0					8																	125088538		1919	4126	6045	SO:0001583	missense	654463					integral to membrane		g.chr8:125088538C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4192C>T	8.37:g.125088538C>T	ENSP00000428280:p.Pro1398Ser					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1398S	p.P1398S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		32	4398	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1398			C2 5.			Missense_Mutation	SNP	ENST00000522917.1	37	c.4192C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518092	0.27211	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.67523	-0.27;-0.27	5.47	5.47	0.80525	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.70509	0.3232	N	0.16307	0.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.66956	-0.5792	10	0.22109	T	0.4	-19.0592	19.7017	0.96057	0.0:1.0:0.0:0.0	.	1398	Q2WGJ9	FR1L6_HUMAN	S	1398	ENSP00000428280:P1398S;ENSP00000381982:P1398S	ENSP00000381982:P1398S	P	+	1	0	FER1L6	125157719	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.954000	0.40362	2.724000	0.93272	0.561000	0.74099	CCT		0.443	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		68	116	0	0	0	1	0	68	116				
MIA2	117153	broad.mit.edu	37	14	39716361	39716361	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:39716361G>T	ENST00000280082.3	+	4	782	c.583G>T	c.(583-585)Gac>Tac	p.D195Y	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.D195Y|MIA2_ENST00000556784.1_Missense_Mutation_p.D194Y	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	195					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGAATCAAAAGACTGGGAAGA	0.418																																						ENST00000553728.1																			0											c.(583-585)Gac>Tac									80.0	82.0	81.0					14																	39716361		2203	4300	6503	SO:0001583	missense	0							g.chr14:39716361G>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.583G>T	14.37:g.39716361G>T	ENSP00000280082:p.Asp195Tyr					MIA2_ENST00000280082.3_Missense_Mutation_p.D195Y|MIA2_ENST00000556784.1_Missense_Mutation_p.D194Y	p.D195Y							4	796	+								A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.583G>T	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	1.902	-0.452753	0.04540	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.49720	0.77;0.78;3.19	5.11	-0.614	0.11590	.	1.685410	0.03510	N	0.219454	T	0.43100	0.1232	L	0.56769	1.78	0.09310	N	1	B;B	0.26400	0.148;0.076	B;B	0.29716	0.033;0.106	T	0.12268	-1.0554	9	.	.	.	-0.2398	3.168	0.06542	0.3787:0.1057:0.4084:0.1073	.	195;195	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	Y	195;194;195	ENSP00000280082:D195Y;ENSP00000451934:D194Y;ENSP00000452252:D195Y	.	D	+	1	0	MIA2;RP11-407N17.3	38786112	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.157000	0.16402	-0.569000	0.06030	-1.822000	0.00598	GAC		0.418	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		6	61	1	0	0.248553	1	0.24944	6	61				
ADAMTSL3	57188	broad.mit.edu	37	15	84558912	84558912	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:84558912T>G	ENST00000286744.5	+	11	1348	c.1124T>G	c.(1123-1125)gTt>gGt	p.V375G	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V375G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	375						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGAGGGTAGTTCCTGACCAT	0.403																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1123-1125)gTt>gGt		ADAMTS-like 3							191.0	166.0	174.0					15																	84558912		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84558912T>G	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1124T>G	15.37:g.84558912T>G	ENSP00000286744:p.Val375Gly					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V375G	p.V375G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		11	1348	+			375					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1124T>G	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986692	0.74589	.	.	ENSG00000156218	ENST00000286744	T	0.63096	-0.02	4.83	4.83	0.62350	.	0.059294	0.64402	D	0.000003	T	0.79064	0.4383	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	T	0.82440	-0.0456	10	0.87932	D	0	.	14.716	0.69269	0.0:0.0:0.0:1.0	.	375;375	P82987-2;P82987	.;ATL3_HUMAN	G	375	ENSP00000286744:V375G	ENSP00000286744:V375G	V	+	2	0	ADAMTSL3	82349916	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.809000	0.69172	1.927000	0.55829	0.533000	0.62120	GTT		0.403	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		15	96	0	0	0	1	0	15	96				
GCNT4	51301	broad.mit.edu	37	5	74325297	74325297	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74325297G>T	ENST00000322348.4	-	1	1427	c.566C>A	c.(565-567)gCt>gAt	p.A189D		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	189					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TAATTTGGAAGCAATGAAAAT	0.398																																						ENST00000322348.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(565-567)gCt>gAt		glucosaminyl (N-acetyl) transferase 4, core 2							105.0	107.0	107.0					5																	74325297		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325297G>T	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.566C>A	5.37:g.74325297G>T	ENSP00000317027:p.Ala189Asp						p.A189D	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1427	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	189						Missense_Mutation	SNP	ENST00000322348.4	37	c.566C>A	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.340546	0.81911	.	.	ENSG00000176928	ENST00000322348	T	0.12465	2.68	6.17	6.17	0.99709	.	0.048151	0.85682	D	0.000000	T	0.49201	0.1543	M	0.90309	3.105	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.53899	-0.8373	10	0.87932	D	0	-12.9294	20.8794	0.99867	0.0:0.0:1.0:0.0	.	189	Q9P109	GCNT4_HUMAN	D	189	ENSP00000317027:A189D	ENSP00000317027:A189D	A	-	2	0	GCNT4	74361053	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.909000	0.87444	2.941000	0.99782	0.655000	0.94253	GCT		0.398	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		40	66	1	0	3.61848e-18	1	4.89221e-18	40	66				
TUBBP1	92755	broad.mit.edu	37	8	30210189	30210189	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30210189T>C	ENST00000518096.1	+	0	801									tubulin, beta pseudogene 1																		CACCAACCTATGGGGATCTGA	0.527																																						ENST00000518096.1																			0																																																			0							g.chr8:30210189T>C	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30210189T>C														0	801	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.527	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		30	52	0	0	0	1	0	30	52				
CWC22	57703	broad.mit.edu	37	2	180838374	180838374	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:180838374C>T	ENST00000410053.3	-	7	1036	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	CWC22_ENST00000295749.6_Missense_Mutation_p.R246Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	246	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.R246Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GTCATTTCTTCGATAGCCTTT	0.313																																						ENST00000410053.3																			1	Substitution - Missense(1)	p.R246Q(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(736-738)cGa>cAa		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							45.0	40.0	41.0					2																	180838374		1829	4079	5908	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180838374C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.737G>A	2.37:g.180838374C>T	ENSP00000387006:p.Arg246Gln					CWC22_ENST00000295749.6_Missense_Mutation_p.R246Q	p.R246Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			7	1036	-			246			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.737G>A	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526820	0.85706	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.21932	1.98;1.98;1.98	5.74	4.87	0.63330	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	L	0.58969	1.84	0.58432	D	0.999998	P	0.51057	0.941	B	0.39531	0.302	T	0.04413	-1.0953	10	0.66056	D	0.02	-2.7385	13.8224	0.63331	0.0:0.9266:0.0:0.0734	.	246	Q9HCG8	CWC22_HUMAN	Q	246	ENSP00000387006:R246Q;ENSP00000295749:R246Q;ENSP00000384159:R246Q	ENSP00000295749:R246Q	R	-	2	0	CWC22	180546619	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.650000	0.83521	1.433000	0.47394	-0.142000	0.14014	CGA		0.313	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		8	14	0	0	0	1	0	8	14				
TAF5	6877	broad.mit.edu	37	10	105147784	105147784	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105147784G>A	ENST00000369839.3	+	11	2230	c.2207G>A	c.(2206-2208)cGa>cAa	p.R736Q	TAF5_ENST00000351396.4_Missense_Mutation_p.R681Q	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	736					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AATACAGTTCGATTATGGGAT	0.373																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(2206-2208)cGa>cAa		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							112.0	111.0	111.0					10																	105147784		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105147784G>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.2207G>A	10.37:g.105147784G>A	ENSP00000358854:p.Arg736Gln					TAF5_ENST00000351396.4_Missense_Mutation_p.R681Q	p.R736Q	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	11	2230	+		Colorectal(252;0.0747)|Breast(234;0.128)	736					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.2207G>A	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970174	0.53614	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.67865	-0.29;-0.29	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	L	0.55990	1.75	0.80722	D	1	P;D	0.53151	0.876;0.958	B;B	0.41299	0.176;0.353	T	0.68176	-0.5478	10	0.62326	D	0.03	-9.7146	14.2241	0.65848	0.0711:0.0:0.9289:0.0	.	681;736	Q15542-2;Q15542	.;TAF5_HUMAN	Q	736;681	ENSP00000358854:R736Q;ENSP00000311024:R681Q	ENSP00000311024:R681Q	R	+	2	0	TAF5	105137774	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.424000	0.73366	2.741000	0.93983	0.557000	0.71058	CGA		0.373	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			21	45	0	0	0	1	0	21	45				
CSNK1G3	1456	broad.mit.edu	37	5	122927093	122927093	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122927093A>G	ENST00000361991.2	+	9	1101	c.1071A>G	c.(1069-1071)caA>caG	p.Q357Q	CSNK1G3_ENST00000511130.2_Silent_p.Q245Q|CSNK1G3_ENST00000512718.3_Silent_p.Q282Q|CSNK1G3_ENST00000521364.1_Silent_p.Q357Q|CSNK1G3_ENST00000345990.4_Silent_p.Q357Q|CSNK1G3_ENST00000510842.2_Silent_p.Q358Q|CSNK1G3_ENST00000395411.1_Silent_p.Q357Q|CSNK1G3_ENST00000395412.1_Silent_p.Q357Q|CSNK1G3_ENST00000360683.2_Silent_p.Q357Q			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	357					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ATAAGATGCAACAATCCAAAA	0.383																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(1069-1071)caA>caG		casein kinase 1, gamma 3							103.0	88.0	93.0					5																	122927093		2203	4300	6503	SO:0001819	synonymous_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122927093A>G	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.1071A>G	5.37:g.122927093A>G						CSNK1G3_ENST00000521364.1_Silent_p.Q357Q|CSNK1G3_ENST00000512718.3_Silent_p.Q282Q|CSNK1G3_ENST00000510842.2_Silent_p.Q358Q|CSNK1G3_ENST00000511130.2_Silent_p.Q245Q|CSNK1G3_ENST00000360683.2_Silent_p.Q357Q|CSNK1G3_ENST00000361991.2_Silent_p.Q357Q|CSNK1G3_ENST00000395411.1_Silent_p.Q357Q|CSNK1G3_ENST00000345990.4_Silent_p.Q357Q	p.Q357Q	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	10	1790	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	357					A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Silent	SNP	ENST00000361991.2	37	c.1071A>G	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	A	7.373	0.627199	0.14257	.	.	ENSG00000151292	ENST00000515322	.	.	.	4.24	-0.986	0.10252	.	.	.	.	.	T	0.65375	0.2685	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63102	-0.6712	4	.	.	.	.	13.6853	0.62513	0.2758:0.0:0.7242:0.0	.	.	.	.	S	106	.	.	N	+	2	0	CSNK1G3	122954992	0.015000	0.18098	0.996000	0.52242	0.951000	0.60555	-1.062000	0.03468	-0.166000	0.10890	-0.297000	0.09499	AAC		0.383	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		7	29	0	0	0	1	0	7	29				
MYBPC2	4606	broad.mit.edu	37	19	50946777	50946777	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50946777A>C	ENST00000357701.5	+	10	980	c.929A>C	c.(928-930)aAg>aCg	p.K310T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	310	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTTGGTAAGAAGCGAATTCTT	0.498																																						ENST00000357701.5																			0				breast(1)	1						c.(928-930)aAg>aCg		myosin binding protein C, fast type							65.0	64.0	64.0					19																	50946777		2099	4231	6330	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50946777A>C		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.929A>C	19.37:g.50946777A>C	ENSP00000350332:p.Lys310Thr						p.K310T	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	10	980	+		all_neural(266;0.057)	310			Ig-like C2-type 2.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.929A>C	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	a	12.28	1.892086	0.33442	.	.	ENSG00000086967	ENST00000357701	T	0.66638	-0.22	3.91	3.91	0.45181	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.179817	0.23356	U	0.049078	T	0.63838	0.2545	M	0.73319	2.225	0.30157	N	0.802503	B	0.24721	0.11	B	0.36092	0.217	T	0.56896	-0.7903	10	0.13108	T	0.6	.	7.4605	0.27291	0.8958:0.0:0.1042:0.0	.	310	Q14324	MYPC2_HUMAN	T	310	ENSP00000350332:K310T	ENSP00000350332:K310T	K	+	2	0	MYBPC2	55638589	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	3.452000	0.52971	1.729000	0.51567	0.172000	0.16884	AAG		0.498	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		10	16	0	0	0	1	0	10	16				
DAAM1	23002	broad.mit.edu	37	14	59835509	59835509	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:59835509C>T	ENST00000395125.1	+	25	3192	c.3169C>T	c.(3169-3171)Cgc>Tgc	p.R1057C	DAAM1_ENST00000351081.1_Missense_Mutation_p.R1057C|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1047C|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1057	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.R1057C(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAACGGAATCGCAAACGTAT	0.368																																						ENST00000395125.1																			1	Substitution - Missense(1)	p.R1057C(1)	skin(1)	breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(3169-3171)Cgc>Tgc		dishevelled associated activator of morphogenesis 1							111.0	106.0	108.0					14																	59835509		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59835509C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3169C>T	14.37:g.59835509C>T	ENSP00000378557:p.Arg1057Cys					DAAM1_ENST00000360909.3_Missense_Mutation_p.R1047C|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1057C|DAAM1_ENST00000553966.1_3'UTR	p.R1057C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	25	3192	+			1057			DAD.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.3169C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502139	0.85176	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	D;D;D	0.82255	-1.59;-1.56;-1.56	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.049990	0.85682	D	0.000000	D	0.90497	0.7023	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.90836	0.4720	10	0.87932	D	0	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	1047;1057	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	C	1047;1057;1057	ENSP00000354162:R1047C;ENSP00000247170:R1057C;ENSP00000378557:R1057C	ENSP00000247170:R1057C	R	+	1	0	DAAM1	58905262	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.770000	0.85390	2.664000	0.90586	0.655000	0.94253	CGC		0.368	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		19	33	0	0	0	1	0	19	33				
CBX6	23466	broad.mit.edu	37	22	39262755	39262755	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:39262755G>A	ENST00000407418.3	-	5	821	c.698C>T	c.(697-699)gCg>gTg	p.A233V	CBX6_ENST00000216083.6_Missense_Mutation_p.A215V			O95503	CBX6_HUMAN	chromobox homolog 6	233					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CTTGTACAGCGCAAAGGCGCC	0.682																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(697-699)gCg>gTg		chromobox homolog 6							39.0	37.0	38.0					22																	39262755		2203	4299	6502	SO:0001583	missense	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262755G>A		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.698C>T	22.37:g.39262755G>A	ENSP00000384490:p.Ala233Val					CBX6_ENST00000216083.6_Missense_Mutation_p.A215V	p.A233V			O95503	CBX6_HUMAN			5	821	-	Melanoma(58;0.04)		233					A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	c.698C>T	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	G	8.744	0.919642	0.17982	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.69	4.69	0.59074	.	12.709800	0.00735	U	0.000963	T	0.42988	0.1227	N	0.19112	0.55	0.09310	N	0.999997	B	0.20261	0.043	B	0.12156	0.007	T	0.42361	-0.9456	9	0.30078	T	0.28	.	17.6193	0.88076	0.0:0.0:1.0:0.0	.	233	O95503	CBX6_HUMAN	V	233;215	.	ENSP00000216083:A215V	A	-	2	0	CBX6	37592701	1.000000	0.71417	0.880000	0.34516	0.930000	0.56654	8.351000	0.90072	2.158000	0.67659	0.407000	0.27541	GCG		0.682	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		29	58	0	0	0	1	0	29	58				
PTGR1	22949	broad.mit.edu	37	9	114355205	114355205	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:114355205C>A	ENST00000407693.2	-	4	472		c.e4+1		PTGR1_ENST00000309195.5_Splice_Site|PTGR1_ENST00000238248.3_Splice_Site|PTGR1_ENST00000538962.1_Splice_Site	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						GAAATAATTACTTGGCCACTT	0.383																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000407693.2																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.e4+1		prostaglandin reductase 1							108.0	102.0	104.0					9																	114355205		2203	4300	6503	SO:0001630	splice_region_variant	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114355205C>A	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.209+1G>T	9.37:g.114355205C>A						PTGR1_ENST00000238248.3_Splice_Site|PTGR1_ENST00000538962.1_Splice_Site|PTGR1_ENST00000309195.5_Splice_Site		NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN			4	472	-								A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Splice_Site	SNP	ENST00000407693.2	37		CCDS6779.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.828588|3.828588	0.71258|0.71258	.|.	.|.	ENSG00000106853|ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693|ENST00000374313;ENST00000374308	.|.	.|.	.|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73636	.|0.3612	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76958	.|-0.2766	.|5	.|0.87932	.|D	.|0	.|.	14.0116|14.0116	0.64500|0.64500	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|70	.|.	.|ENSP00000363427:K70N	.|K	-|-	.|3	.|2	PTGR1|PTGR1	113395026|113395026	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.956000|0.956000	0.61745|0.61745	5.982000|5.982000	0.70532|0.70532	2.560000|2.560000	0.86352|0.86352	0.650000|0.650000	0.86243|0.86243	.|AAG		0.383	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		Intron	9	32	1	0	3.86212e-05	1	4.21111e-05	9	32				
NF1	4763	broad.mit.edu	37	17	29684049	29684049	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29684049C>A	ENST00000358273.4	+	53	8193	c.7810C>A	c.(7810-7812)Ctc>Atc	p.L2604I	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.L2583I|NF1_ENST00000444181.2_Missense_Mutation_p.L397I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2604					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCAAATGTTCTCTTGGATGA	0.423			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7810-7812)Ctc>Atc		neurofibromin 1							194.0	184.0	187.0					17																	29684049		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29684049C>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7810C>A	17.37:g.29684049C>A	ENSP00000351015:p.Leu2604Ile	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.L397I|NF1_ENST00000356175.3_Missense_Mutation_p.L2583I	p.L2604I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	53	8193	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2604					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7810C>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961143	0.92791	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.78364	1.29;1.45;1.11;-1.17	5.87	5.87	0.94306	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.71206	2.165	0.80722	D	1	D;D;D	0.71674	0.998;0.974;0.998	D;D;D	0.80764	0.99;0.969;0.994	D	0.88074	0.2802	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	397;2583;2604	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	I	2604;2583;2249;397	ENSP00000351015:L2604I;ENSP00000348498:L2583I;ENSP00000389907:L2249I;ENSP00000396481:L397I	ENSP00000348498:L2583I	L	+	1	0	NF1	26708175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.025000	0.76449	2.941000	0.99782	0.655000	0.94253	CTC		0.423	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		46	90	1	0	7.05121e-23	1	9.83114e-23	46	90				
KLHL38	340359	broad.mit.edu	37	8	124663962	124663962	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124663962T>G	ENST00000325995.7	-	1	1228	c.1205A>C	c.(1204-1206)gAa>gCa	p.E402A	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	402										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTCATACCTTTCCATGGAGCC	0.567																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(1204-1206)gAa>gCa		kelch-like family member 38							71.0	70.0	70.0					8																	124663962		2027	4183	6210	SO:0001583	missense	340359							g.chr8:124663962T>G		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1205A>C	8.37:g.124663962T>G	ENSP00000321475:p.Glu402Ala					CTD-2552K11.2_ENST00000524355.1_RNA	p.E402A	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	1228	-			402					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1205A>C	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561895	0.65538	.	.	ENSG00000175946	ENST00000325995	D	0.84442	-1.85	5.48	5.48	0.80851	Kelch-type beta propeller (1);	0.140034	0.64402	D	0.000005	D	0.94479	0.8223	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95909	0.8921	10	0.87932	D	0	.	15.574	0.76362	0.0:0.0:0.0:1.0	.	402	Q2WGJ6	KLH38_HUMAN	A	402	ENSP00000321475:E402A	ENSP00000321475:E402A	E	-	2	0	KLHL38	124733143	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	6.245000	0.72398	2.079000	0.62486	0.459000	0.35465	GAA		0.567	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			8	59	0	0	0	1	0	8	59				
C22orf31	25770	broad.mit.edu	37	22	29454749	29454749	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29454749T>G	ENST00000216071.4	-	3	905	c.854A>C	c.(853-855)aAg>aCg	p.K285T		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	285										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GCTCTTTAACTTGGGCCATTT	0.483																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.(853-855)aAg>aCg		chromosome 22 open reading frame 31							120.0	102.0	108.0					22																	29454749		2203	4300	6503	SO:0001583	missense	25770							g.chr22:29454749T>G	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.854A>C	22.37:g.29454749T>G	ENSP00000216071:p.Lys285Thr						p.K285T	NM_015370.1	NP_056185.1	O95567	CV031_HUMAN			3	905	-			285					A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	c.854A>C	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.272391	0.23221	.	.	ENSG00000100249	ENST00000216071	T	0.37752	1.18	5.55	3.46	0.39613	.	0.441828	0.21403	N	0.075112	T	0.37183	0.0994	L	0.29908	0.895	0.24901	N	0.992104	D	0.57257	0.979	P	0.56563	0.801	T	0.13098	-1.0522	10	0.72032	D	0.01	-4.2492	6.9076	0.24317	0.0:0.1767:0.0:0.8233	.	285	O95567	CV031_HUMAN	T	285	ENSP00000216071:K285T	ENSP00000216071:K285T	K	-	2	0	C22orf31	27784749	0.858000	0.29795	0.896000	0.35187	0.017000	0.09413	0.815000	0.27253	0.548000	0.28955	0.533000	0.62120	AAG		0.483	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		6	88	0	0	0	1	0	6	88				
C10orf53	282966	broad.mit.edu	37	10	50902001	50902001	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50902001C>A	ENST00000374111.3	+	2	229				C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374113.3_Missense_Mutation_p.F93L|C10orf53_ENST00000374112.3_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53											endometrium(1)|lung(6)	7		all_neural(218;0.107)				CCCTCAATTTCTAGTTGAAAT	0.453																																						ENST00000374113.3																			0				endometrium(1)|lung(6)	7						c.(277-279)ttC>ttA		chromosome 10 open reading frame 53																																				SO:0001627	intron_variant	282966							g.chr10:50902001C>A	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.217+62C>A	10.37:g.50902001C>A						C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000374111.3_Intron	p.F93L			Q8N6V4	CJ053_HUMAN			2	326	+		all_neural(218;0.107)	0					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374111.3	37	c.279C>A	CCDS41521.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387236	0.61956	.	.	ENSG00000178645	ENST00000374113	.	.	.	5.05	3.15	0.36227	.	.	.	.	.	T	0.22551	0.0544	.	.	.	0.09310	N	0.999999	B	0.33807	0.426	B	0.31101	0.124	T	0.10245	-1.0638	6	.	.	.	.	8.1966	0.31400	0.0:0.8019:0.0:0.1981	.	93	Q8N6V4-2	.	L	93	.	.	F	+	3	2	C10orf53	50572007	0.001000	0.12720	0.011000	0.14972	0.583000	0.36354	0.982000	0.29539	1.268000	0.44264	0.650000	0.86243	TTC		0.453	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		10	35	1	0	0.000442599	1	0.00046913	10	35				
SFXN4	119559	broad.mit.edu	37	10	120907363	120907363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120907363C>A	ENST00000355697.2	-	12	761	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	SFXN4_ENST00000330036.6_Nonsense_Mutation_p.E239*|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	248					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GCTAGCGTTTCTCTAACAGCC	0.488																																						ENST00000355697.2																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11						c.(742-744)Gaa>Taa		sideroflexin 4							103.0	103.0	103.0					10																	120907363		2203	4300	6503	SO:0001587	stop_gained	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120907363C>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.742G>T	10.37:g.120907363C>A	ENSP00000347924:p.Glu248*					SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Nonsense_Mutation_p.E239*	p.E248*	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	12	761	-		Lung NSC(174;0.094)|all_lung(145;0.123)	248					Q6WSU4|Q86TD9	Nonsense_Mutation	SNP	ENST00000355697.2	37	c.742G>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694454	0.48202	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	.	.	.	3.74	3.74	0.42951	.	0.139020	0.46442	D	0.000284	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-5.0046	12.7895	0.57526	0.0:1.0:0.0:0.0	.	.	.	.	X	248;239;131;132	.	ENSP00000333200:E239X	E	-	1	0	SFXN4	120897353	0.955000	0.32602	0.117000	0.21633	0.007000	0.05969	3.257000	0.51500	2.120000	0.65058	0.650000	0.86243	GAA		0.488	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		38	45	1	0	3.62531e-18	1	4.89791e-18	38	45				
LAMB2	3913	broad.mit.edu	37	3	49160170	49160170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49160170C>A	ENST00000418109.1	-	28	4704	c.4540G>T	c.(4540-4542)Gaa>Taa	p.E1514*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.E1514*|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000398892.3_5'Flank|USP19_ENST00000488993.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000417901.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1514	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGATAAGTTCTTGAAGTTCC	0.597																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4540-4542)Gaa>Taa		laminin, beta 2 (laminin S)							151.0	145.0	147.0					3																	49160170		2203	4300	6503	SO:0001587	stop_gained	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49160170C>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4540G>T	3.37:g.49160170C>A	ENSP00000388325:p.Glu1514*					LAMB2_ENST00000305544.4_Nonsense_Mutation_p.E1514*	p.E1514*	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	28	4704	-			1514			Domain I.		Q16321	Nonsense_Mutation	SNP	ENST00000418109.1	37	c.4540G>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	44	10.636755	0.99442	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	.	.	.	5.6	4.72	0.59763	.	0.052056	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	16.5307	0.84357	0.0:0.8692:0.1308:0.0	.	.	.	.	X	1514;1514;281	.	ENSP00000307156:E1514X	E	-	1	0	LAMB2	49135174	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.673000	0.61604	1.332000	0.45431	0.655000	0.94253	GAA		0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		9	122	1	0	0.00621372	1	0.0064192	9	122				
OR5K1	26339	broad.mit.edu	37	3	98188675	98188675	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98188675C>A	ENST00000332650.5	+	1	352	c.255C>A	c.(253-255)ttC>ttA	p.F85L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGAGAACTTCTTTTCTGAGA	0.433																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(253-255)ttC>ttA		olfactory receptor, family 5, subfamily K, member 1							170.0	179.0	176.0					3																	98188675		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188675C>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.255C>A	3.37:g.98188675C>A	ENSP00000373193:p.Phe85Leu						p.F85L	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	352	+			85					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.255C>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	9.159	1.018326	0.19355	.	.	ENSG00000232382	ENST00000332650	T	0.00912	5.55	5.18	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	0.157248	0.30003	N	0.010660	T	0.00496	0.0016	N	0.02854	-0.475	0.21933	N	0.99947	B	0.14805	0.011	B	0.17979	0.02	T	0.47484	-0.9114	10	0.27785	T	0.31	-6.3369	5.0249	0.14379	0.1483:0.6003:0.0:0.2513	.	85	Q8NHB7	OR5K1_HUMAN	L	85	ENSP00000373193:F85L	ENSP00000373193:F85L	F	+	3	2	OR5K1	99671365	0.000000	0.05858	0.850000	0.33497	0.509000	0.34042	-0.715000	0.04997	0.167000	0.19631	0.563000	0.77884	TTC		0.433	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			58	117	1	0	2.40265e-35	1	3.4535e-35	58	117				
SP7	121340	broad.mit.edu	37	12	53722395	53722395	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53722395C>T	ENST00000536324.2	-	3	1114	c.831G>A	c.(829-831)gaG>gaA	p.E277E	SP7_ENST00000537210.2_Silent_p.E259E|SP7_ENST00000303846.3_Silent_p.E277E	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	277					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GCCGCTCTAGCTCCTGGCAAT	0.662																																						ENST00000536324.2																			0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(829-831)gaG>gaA		Sp7 transcription factor							22.0	26.0	25.0					12																	53722395		2112	4233	6345	SO:0001819	synonymous_variant	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722395C>T	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.831G>A	12.37:g.53722395C>T						SP7_ENST00000303846.3_Silent_p.E277E|SP7_ENST00000537210.2_Silent_p.E259E	p.E277E	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN			3	1114	-			277					B3KY26|Q3MJ72|Q7Z718	Silent	SNP	ENST00000536324.2	37	c.831G>A	CCDS44897.1																																																																																				0.662	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			12	29	0	0	0	1	0	12	29				
C3orf20	84077	broad.mit.edu	37	3	14745900	14745900	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14745900G>A	ENST00000253697.3	+	7	1387	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.R190Q|C3orf20_ENST00000435614.1_Missense_Mutation_p.R190Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	312						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R312Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATGATCTTACGAAACTACAAG	0.493																																						ENST00000253697.3																			1	Substitution - Missense(1)	p.R312Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(934-936)cGa>cAa		chromosome 3 open reading frame 20							110.0	115.0	113.0					3																	14745900		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14745900G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.935G>A	3.37:g.14745900G>A	ENSP00000253697:p.Arg312Gln					C3orf20_ENST00000412910.1_Missense_Mutation_p.R190Q|C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Missense_Mutation_p.R190Q	p.R312Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			7	1387	+			312					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.935G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327885	0.41197	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.09723	3.23;2.95;2.95	4.91	2.8	0.32819	.	0.149471	0.31589	N	0.007385	T	0.07683	0.0193	L	0.34521	1.04	0.23381	N	0.997799	P	0.46952	0.887	B	0.40901	0.343	T	0.23404	-1.0189	10	0.72032	D	0.01	-15.8772	5.0826	0.14664	0.3086:0.0:0.6914:0.0	.	312	Q8ND61	CC020_HUMAN	Q	312;190;190	ENSP00000253697:R312Q;ENSP00000402933:R190Q;ENSP00000396081:R190Q	ENSP00000253697:R312Q	R	+	2	0	C3orf20	14720904	0.748000	0.28294	0.406000	0.26421	0.047000	0.14425	1.386000	0.34419	1.057000	0.40506	0.585000	0.79938	CGA		0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		32	51	0	0	0	1	0	32	51				
GPR98	84059	broad.mit.edu	37	5	90077323	90077323	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90077323C>T	ENST00000405460.2	+	65	13255	c.13159C>T	c.(13159-13161)Cgc>Tgc	p.R4387C	GPR98_ENST00000425867.2_Missense_Mutation_p.R48C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4387	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCCATTGTTCGCATCATAAT	0.363																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13159-13161)Cgc>Tgc		G protein-coupled receptor 98							64.0	59.0	61.0					5																	90077323		1860	4089	5949	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90077323C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13159C>T	5.37:g.90077323C>T	ENSP00000384582:p.Arg4387Cys					GPR98_ENST00000425867.2_Missense_Mutation_p.R48C	p.R4387C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	65	13255	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4387					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13159C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896147	0.33442	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.36340	1.26;1.57	5.8	4.93	0.64822	Na-Ca exchanger/integrin-beta4 (1);	0.440966	0.25089	N	0.033229	T	0.53012	0.1770	M	0.70595	2.14	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.997	P;P;P	0.57846	0.828;0.745;0.736	T	0.50499	-0.8821	10	0.49607	T	0.09	.	13.2944	0.60288	0.4039:0.5961:0.0:0.0	.	48;4387;48	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	C	4387;4387;48	ENSP00000384582:R4387C;ENSP00000392618:R48C	ENSP00000296619:R4387C	R	+	1	0	GPR98	90113079	0.017000	0.18338	0.012000	0.15200	0.153000	0.21895	1.263000	0.33004	1.422000	0.47177	0.650000	0.86243	CGC		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	11	0	0	0	1	0	8	11				
LIG4	3981	broad.mit.edu	37	13	108862660	108862660	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:108862660G>T	ENST00000356922.4	-	2	1229	c.957C>A	c.(955-957)ttC>ttA	p.F319L	LIG4_ENST00000442234.1_Missense_Mutation_p.F319L|LIG4_ENST00000405925.1_Missense_Mutation_p.F319L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	319					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TATCTGCTTTGAATGCATTAT	0.333								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(955-957)ttC>ttA	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							93.0	93.0	93.0					13																	108862660		2203	4299	6502	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862660G>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.957C>A	13.37:g.108862660G>T	ENSP00000349393:p.Phe319Leu					LIG4_ENST00000405925.1_Missense_Mutation_p.F319L|LIG4_ENST00000442234.1_Missense_Mutation_p.F319L	p.F319L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1229	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		319					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.957C>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440410	0.25900	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.80909	-1.43;-1.43;-1.43	5.53	5.53	0.82687	DNA ligase, ATP-dependent, central (1);	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	L	0.42581	1.335	0.58432	D	0.999998	B	0.27140	0.169	B	0.36666	0.23	T	0.67772	-0.5584	10	0.22706	T	0.39	.	8.1024	0.30865	0.1713:0.0:0.8287:0.0	.	319	P49917	DNLI4_HUMAN	L	319	ENSP00000385955:F319L;ENSP00000402030:F319L;ENSP00000349393:F319L	ENSP00000349393:F319L	F	-	3	2	LIG4	107660661	0.991000	0.36638	0.585000	0.28666	0.533000	0.34776	2.234000	0.43035	2.601000	0.87937	0.643000	0.83706	TTC		0.333	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		22	41	1	0	0.000229342	1	0.00024587	22	41				
STAG2	10735	broad.mit.edu	37	X	123185195	123185195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123185195G>T	ENST00000371160.1	+	13	1437	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	STAG2_ENST00000371145.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.E383*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E314*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	383					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTGACAAAGAATATGATGT	0.279																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(1147-1149)Gaa>Taa		stromal antigen 2							88.0	76.0	80.0					X																	123185195		2201	4294	6495	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123185195G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1147G>T	X.37:g.123185195G>T	ENSP00000360202:p.Glu383*					STAG2_ENST00000371157.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E314*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.E383*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.E383*	p.E383*			Q8N3U4	STAG2_HUMAN			13	1437	+			383					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.1147G>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	40	8.450043	0.98817	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.0606	18.3073	0.90187	0.0:0.0:1.0:0.0	.	.	.	.	X	383;383;314;383;383;383;383	.	ENSP00000218089:E383X	E	+	1	0	STAG2	123012876	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.827000	0.99397	2.262000	0.75019	0.544000	0.68410	GAA		0.279	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		13	51	1	0	1.05317e-09	1	1.27574e-09	13	51				
CADPS	8618	broad.mit.edu	37	3	62423848	62423848	+	Silent	SNP	G	G	A	rs370160083		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62423848G>A	ENST00000383710.4	-	28	4057	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CADPS_ENST00000357948.3_Silent_p.F1157F|CADPS_ENST00000283269.9_Silent_p.F1197F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1236	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATGGCGGACGAAAGTCACGT	0.448																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3706-3708)ttC>ttT		Ca++-dependent secretion activator		G	,,	0,4406		0,0,2203	86.0	81.0	83.0		3708,3471,3591	4.7	1.0	3		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CADPS	NM_003716.3,NM_183393.2,NM_183394.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1236/1354,1157/1275,1197/1315	62423848	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62423848G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3708C>T	3.37:g.62423848G>A						CADPS_ENST00000283269.9_Silent_p.F1197F|CADPS_ENST00000357948.3_Silent_p.F1157F	p.F1236F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	28	4057	-		Lung SC(41;0.0452)	1236			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.3708C>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.693|6.693	0.496561|0.496561	0.12762|0.12762	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000473635	.|.	.|.	.|.	5.65|5.65	4.68|4.68	0.58851|0.58851	.|.	.|.	.|.	.|.	.|.	T|T	0.54775|0.54775	0.1879|0.1879	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53308|0.53308	-0.8457|-0.8457	4|4	.|.	.|.	.|.	.|.	5.1284|5.1284	0.14897|0.14897	0.4262:0.0:0.5737:0.0|0.4262:0.0:0.5737:0.0	.|.	.|.	.|.	.|.	C|L	137|228	.|.	.|.	R|S	-|-	1|2	0|0	CADPS|CADPS	62398888|62398888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.397000|4.397000	0.59690|0.59690	1.266000|1.266000	0.44231|0.44231	0.644000|0.644000	0.83932|0.83932	CGT|TCG		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		25	40	0	0	0	1	0	25	40				
TTN	7273	broad.mit.edu	37	2	179600640	179600640	+	Missense_Mutation	SNP	C	C	T	rs373378672		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179600640C>T	ENST00000591111.1	-	48	13806	c.13582G>A	c.(13582-13584)Gac>Aac	p.D4528N	TTN_ENST00000589042.1_Missense_Mutation_p.D4845N|TTN_ENST00000342992.6_Missense_Mutation_p.D3601N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12284	Ig-like 25.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D3601N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTGCGTCGGAAATCCTC	0.438																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.D3601N(1)	lung(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(14533-14535)Gac>Aac		titin		C	,,,ASN/ASP	1,3869		0,1,1934	134.0	130.0	131.0		,,,10801	3.0	0.8	2		131	1,8283		0,1,4141	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,23	0,2,6075	TT,TC,CC		0.0121,0.0258,0.0165	,,,benign	,,,3601/33424	179600640	2,12152	1935	4142	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600640C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13582G>A	2.37:g.179600640C>T	ENSP00000465570:p.Asp4528Asn					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D3601N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D4528N	p.D4845N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	14757	-			4528			Ig-like 28.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14533G>A		.	.	.	.	.	.	.	.	.	.	C	2.067	-0.413997	0.04799	2.58E-4	1.21E-4	ENSG00000155657	ENST00000342992	T	0.65732	-0.17	5.93	3.04	0.35103	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46268	0.1384	N	0.16016	0.355	0.09310	N	0.999998	B	0.19706	0.038	B	0.19391	0.025	T	0.41910	-0.9482	9	0.87932	D	0	.	11.6408	0.51230	0.0:0.5364:0.3944:0.0693	.	4528	Q8WZ42	TITIN_HUMAN	N	3601	ENSP00000343764:D3601N	ENSP00000343764:D3601N	D	-	1	0	TTN	179308885	0.115000	0.22152	0.781000	0.31783	0.010000	0.07245	-0.071000	0.11505	0.332000	0.23536	-0.211000	0.12701	GAC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	46	0	0	0	1	0	17	46				
S1PR1	1901	broad.mit.edu	37	1	101705191	101705191	+	Silent	SNP	C	C	T	rs139640364	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101705191C>T	ENST00000305352.6	+	2	1026	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	217					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGCTCTCCATCGTCATTCTGT	0.567													C|||	2	0.000399361	0.0	0.0014	5008	,	,		21658	0.0		0.0	False		,,,				2504	0.001					ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(649-651)atC>atT		sphingosine-1-phosphate receptor 1		C		4,4402	9.9+/-24.2	0,4,2199	131.0	124.0	126.0		651	2.3	1.0	1	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	S1PR1	NM_001400.4		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		217/383	101705191	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705191C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.651C>T	1.37:g.101705191C>T							p.I217I	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	1026	+			217					D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.651C>T	CCDS777.1																																																																																				0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		45	84	0	0	0	1	0	45	84				
CDH19	28513	broad.mit.edu	37	18	64212074	64212074	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:64212074T>G	ENST00000540086.1	-	6	1088	c.842A>C	c.(841-843)tAt>tCt	p.Y281S	CDH19_ENST00000262150.2_Missense_Mutation_p.Y281S	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	391	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTCATTATCATATGCCATGAT	0.358																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(841-843)tAt>tCt		cadherin 19, type 2							107.0	97.0	100.0					18																	64212074		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64212074T>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.842A>C	18.37:g.64212074T>G	ENSP00000439593:p.Tyr281Ser					CDH19_ENST00000540086.1_Missense_Mutation_p.Y281S	p.Y281S	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			6	1134	-		Esophageal squamous(42;0.0132)	281			Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.842A>C	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	9.361	1.068040	0.20067	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.48522	0.81;0.81	5.28	4.1	0.47936	Cadherin (4);Cadherin-like (1);	1.189240	0.05909	N	0.631434	T	0.28962	0.0719	N	0.04387	-0.21	0.29330	N	0.866732	B;B	0.28880	0.226;0.016	B;B	0.29598	0.104;0.028	T	0.28839	-1.0031	10	0.19590	T	0.45	.	10.9605	0.47383	0.1479:0.0:0.0:0.8521	.	281;281	F5H1K0;Q9H159	.;CAD19_HUMAN	S	281;281;226	ENSP00000262150:Y281S;ENSP00000439593:Y281S	ENSP00000262150:Y281S	Y	-	2	0	CDH19	62363054	0.037000	0.19845	0.993000	0.49108	0.578000	0.36192	2.374000	0.44274	0.815000	0.34398	0.402000	0.26972	TAT		0.358	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		8	15	0	0	0	1	0	8	15				
FTHL17	53940	broad.mit.edu	37	X	31089558	31089558	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:31089558G>A	ENST00000359202.3	-	1	612	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	171					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TGAGCTTGTCGAACAGGTACT	0.632																																						ENST00000359202.3																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(511-513)ttC>ttT		ferritin, heavy polypeptide-like 17							44.0	41.0	42.0					X																	31089558		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089558G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.513C>T	X.37:g.31089558G>A							p.F171F	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	612	-			171					Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.513C>T	CCDS14227.1																																																																																				0.632	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		24	50	0	0	0	1	0	24	50				
BMP10	27302	broad.mit.edu	37	2	69093648	69093648	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:69093648G>T	ENST00000295379.1	-	2	548	c.390C>A	c.(388-390)ttC>ttA	p.F130L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	130					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGGACACATTGAAGAGGAGGG	0.453																																						ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(388-390)ttC>ttA		bone morphogenetic protein 10							42.0	42.0	42.0					2																	69093648		2203	4300	6503	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093648G>T	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.390C>A	2.37:g.69093648G>T	ENSP00000295379:p.Phe130Leu						p.F130L	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	548	-			130					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.390C>A	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449371	0.84101	.	.	ENSG00000163217	ENST00000295379	D	0.91894	-2.93	5.94	5.94	0.96194	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96481	0.9356	10	0.87932	D	0	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	130	O95393	BMP10_HUMAN	L	130	ENSP00000295379:F130L	ENSP00000295379:F130L	F	-	3	2	BMP10	68947152	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.791000	0.85805	2.812000	0.96745	0.557000	0.71058	TTC		0.453	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		17	25	1	0	6.94344e-10	1	8.4399e-10	17	25				
PLPPR2	64748	broad.mit.edu	37	19	11473304	11473304	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11473304G>A	ENST00000251473.5	+	7	1155	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R235Q	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GCCGAGTACCGAAACCACTGG	0.652																																						ENST00000251473.5																			0											c.(778-780)cGa>cAa									83.0	67.0	72.0					19																	11473304		2203	4300	6503	SO:0001583	missense	0							g.chr19:11473304G>A																												ENST00000251473.5:c.779G>A	19.37:g.11473304G>A	ENSP00000251473:p.Arg260Gln					DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R235Q	p.R260Q	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					7	1155	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.779G>A	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	G	37	6.074982	0.97262	.	.	ENSG00000105520	ENST00000251473	T	0.75477	-0.94	5.45	5.45	0.79879	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85487	0.5708	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.86520	0.1815	10	0.72032	D	0.01	-32.9386	18.0605	0.89375	0.0:0.0:1.0:0.0	.	235;260	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	Q	260	ENSP00000251473:R260Q	ENSP00000251473:R260Q	R	+	2	0	AC024575.1	11334304	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.966000	0.93397	2.570000	0.86706	0.561000	0.74099	CGA		0.652	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			29	41	0	0	0	1	0	29	41				
ADCY10	55811	broad.mit.edu	37	1	167817657	167817657	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167817657G>T	ENST00000367851.4	-	19	2563	c.2379C>A	c.(2377-2379)gtC>gtA	p.V793V	ADCY10_ENST00000367848.1_Silent_p.V701V|ADCY10_ENST00000545172.1_Silent_p.V640V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	793					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.V793V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAGGTGACAGACTTCTTCAC	0.433																																						ENST00000367848.1																			1	Substitution - coding silent(1)	p.V793V(1)	lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(2101-2103)gtC>gtA		adenylate cyclase 10 (soluble)							111.0	106.0	108.0					1																	167817657		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167817657G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2379C>A	1.37:g.167817657G>T						ADCY10_ENST00000545172.1_Silent_p.V640V|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.V793V	p.V701V			Q96PN6	ADCYA_HUMAN			19	2600	-			793					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.2103C>A	CCDS1265.1																																																																																				0.433	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		7	45	1	0	5.18039e-06	1	5.75679e-06	7	45				
RYR2	6262	broad.mit.edu	37	1	237961430	237961430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237961430G>T	ENST00000366574.2	+	97	14367	c.14050G>T	c.(14050-14052)Gaa>Taa	p.E4684*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4690*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4668*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4684					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATGCCAGAGAAAAGAAGAA	0.433																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14050-14052)Gaa>Taa		ryanodine receptor 2 (cardiac)							81.0	89.0	87.0					1																	237961430		1897	4121	6018	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237961430G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14050G>T	1.37:g.237961430G>T	ENSP00000355533:p.Glu4684*					RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4690*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4668*	p.E4684*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		97	14367	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4684					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.14050G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	55	24.918536	0.99962	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	.	.	.	5.57	5.57	0.84162	.	0.081432	0.47852	U	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	12.8353	0.57770	0.0747:0.0:0.9253:0.0	.	.	.	.	X	4684;4690;4668;117	.	ENSP00000353174:E4690X	E	+	1	0	RYR2	236028053	1.000000	0.71417	0.958000	0.39756	0.908000	0.53690	5.021000	0.64072	2.628000	0.89032	0.650000	0.86243	GAA		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	12	1	0	0.0477658	1	0.0484551	7	12				
FOSL2	2355	broad.mit.edu	37	2	28626994	28626994	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:28626994T>C	ENST00000264716.4	+	2	986	c.123T>C	c.(121-123)ccT>ccC	p.P41P	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Silent_p.P2P|FOSL2_ENST00000379619.1_Silent_p.P16P	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	41					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TAGATATGCCTGGCTCAGGCA	0.463																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(121-123)ccT>ccC		FOS-like antigen 2							117.0	112.0	114.0					2																	28626994		2203	4300	6503	SO:0001819	synonymous_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28626994T>C		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.123T>C	2.37:g.28626994T>C						FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Silent_p.P2P|FOSL2_ENST00000379619.1_Silent_p.P16P	p.P41P	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			2	986	+	Acute lymphoblastic leukemia(172;0.155)		41					B2RD58|B3KP27|B4DYV4|Q6FG46	Silent	SNP	ENST00000264716.4	37	c.123T>C	CCDS1766.1																																																																																				0.463	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		9	103	0	0	0	1	0	9	103				
RFPL1	5988	broad.mit.edu	37	22	29833764	29833764	+	5'Flank	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29833764G>A	ENST00000354373.2	+	0	0				RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1								zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TAGATGCCTAGAAATGGGGGT	0.498																																						ENST00000461286.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr22:29833764G>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516		22.37:g.29833764G>A	Exception_encountered							NR_002727.2						0	4612	-								Q6IC06|Q9UJ97	RNA	SNP	ENST00000354373.2	37		CCDS13857.2																																																																																				0.498	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		10	8	0	0	0	1	0	10	8				
TBC1D7	51256	broad.mit.edu	37	6	13327102	13327102	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:13327102C>T	ENST00000379300.3	-	2	272	c.29G>A	c.(28-30)cGt>cAt	p.R10H	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R10H|TBC1D7_ENST00000607658.1_Missense_Mutation_p.R10H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R10H|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R10H	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	10					activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			ATATACTGAACGAAAGTTTCT	0.383																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(28-30)cGt>cAt		TBC1 domain family, member 7							73.0	75.0	74.0					6																	13327102		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13327102C>T	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.29G>A	6.37:g.13327102C>T	ENSP00000368602:p.Arg10His					TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379300.3_Missense_Mutation_p.R10H|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R10H|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R10H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R10H	p.R10H			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		2	179	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	10					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.29G>A	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350345	0.95830	.	.	ENSG00000145979	ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.72835	2.21;2.21;2.21;0.03;-0.19;0.27;0.27;2.21;0.42;0.16;2.21;2.21;-0.69	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.85093	0.5618	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;0.999	D	0.86901	0.2054	10	0.87932	D	0	-17.2961	18.757	0.91836	0.0:1.0:0.0:0.0	.	10;10;10;10;10	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	H	10	ENSP00000401438:R10H;ENSP00000348813:R10H;ENSP00000368602:R10H;ENSP00000368609:R10H;ENSP00000343100:R10H;ENSP00000414292:R10H;ENSP00000404680:R10H;ENSP00000394425:R10H;ENSP00000417005:R10H;ENSP00000412102:R10H;ENSP00000414101:R10H;ENSP00000401339:R10H;ENSP00000368593:R10H	ENSP00000343100:R10H	R	-	2	0	TBC1D7	13435081	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.301000	0.78850	2.730000	0.93505	0.650000	0.86243	CGT		0.383	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		26	7	0	0	0	1	0	26	7				
IFT172	26160	broad.mit.edu	37	2	27708255	27708255	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27708255T>G	ENST00000260570.3	-	2	258	c.155A>C	c.(154-156)aAa>aCa	p.K52T	IFT172_ENST00000359466.6_Missense_Mutation_p.K52T|IFT172_ENST00000416524.2_Missense_Mutation_p.K31T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	52					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGTGGAGAATTTATCTCTCCG	0.453																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(154-156)aAa>aCa		intraflagellar transport 172 homolog (Chlamydomonas)							220.0	193.0	202.0					2																	27708255		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27708255T>G	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.155A>C	2.37:g.27708255T>G	ENSP00000260570:p.Lys52Thr					IFT172_ENST00000359466.6_Missense_Mutation_p.K52T|IFT172_ENST00000416524.2_Missense_Mutation_p.K31T	p.K52T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			2	258	-	Acute lymphoblastic leukemia(172;0.155)		52					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.155A>C	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347725	0.82022	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T	0.52754	0.65;1.59	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046773	0.85682	D	0.000000	T	0.62600	0.2441	L	0.50993	1.605	0.58432	D	0.999996	D;D;D;D;D	0.69078	0.982;0.991;0.96;0.991;0.997	P;D;P;D;D	0.69479	0.637;0.938;0.785;0.938;0.964	T	0.65393	-0.6179	10	0.87932	D	0	-16.4288	14.8417	0.70230	0.0:0.0:0.0:1.0	.	52;52;52;52;52	B4E3C1;A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;.;IF172_HUMAN	T	52;52;31	ENSP00000260570:K52T;ENSP00000407408:K31T	ENSP00000260570:K52T	K	-	2	0	IFT172	27561759	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.304000	0.65744	2.185000	0.69588	0.455000	0.32223	AAA		0.453	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		49	66	0	0	0	1	0	49	66				
CCDC110	256309	broad.mit.edu	37	4	186380484	186380484	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186380484G>A	ENST00000307588.3	-	6	1332	c.1257C>T	c.(1255-1257)tcC>tcT	p.S419S	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Silent_p.S382S|CCDC110_ENST00000510617.1_Silent_p.S419S	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	419						nucleus (GO:0005634)		p.S419S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GCTCAGTAACGGAATTAACTT	0.318																																						ENST00000307588.3																			1	Substitution - coding silent(1)	p.S419S(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1255-1257)tcC>tcT		coiled-coil domain containing 110							109.0	111.0	110.0					4																	186380484		2203	4298	6501	SO:0001819	synonymous_variant	256309					nucleus		g.chr4:186380484G>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1257C>T	4.37:g.186380484G>A						CCDC110_ENST00000393540.3_Silent_p.S382S|CCDC110_ENST00000510617.1_Silent_p.S419S	p.S419S	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1332	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	419					Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	c.1257C>T	CCDS3843.1																																																																																				0.318	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		21	64	0	0	0	1	0	21	64				
FREM2	341640	broad.mit.edu	37	13	39265586	39265586	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39265586A>C	ENST00000280481.7	+	1	4321	c.4105A>C	c.(4105-4107)Aat>Cat	p.N1369H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1369					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTGGGCATGAATTTTACCCA	0.393																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4105-4107)Aat>Cat		FRAS1 related extracellular matrix protein 2							68.0	66.0	67.0					13																	39265586		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265586A>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4105A>C	13.37:g.39265586A>C	ENSP00000280481:p.Asn1369His						p.N1369H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4321	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1369					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4105A>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573568	0.65765	.	.	ENSG00000150893	ENST00000280481	T	0.63255	-0.03	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86499	0.1802	10	0.72032	D	0.01	.	16.1699	0.81801	1.0:0.0:0.0:0.0	.	1369	Q5SZK8	FREM2_HUMAN	H	1369	ENSP00000280481:N1369H	ENSP00000280481:N1369H	N	+	1	0	FREM2	38163586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.217000	0.71921	0.533000	0.62120	AAT		0.393	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		20	45	0	0	0	1	0	20	45				
CTCF	10664	broad.mit.edu	37	16	67645132	67645132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67645132G>T	ENST00000264010.4	+	3	841	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	133					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTCAGTAGAAGAACTTCAGGG	0.458																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(397-399)Gaa>Taa		CCCTC-binding factor (zinc finger protein)							102.0	108.0	106.0					16																	67645132		2198	4300	6498	SO:0001587	stop_gained	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645132G>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.397G>T	16.37:g.67645132G>T	ENSP00000264010:p.Glu133*					CTCF_ENST00000401394.1_Intron	p.E133*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	841	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	133					B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	ENST00000264010.4	37	c.397G>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	38	6.780491	0.97833	.	.	ENSG00000102974	ENST00000264010	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-4.0223	19.3331	0.94299	0.0:0.0:1.0:0.0	.	.	.	.	X	133	.	ENSP00000264010:E133X	E	+	1	0	CTCF	66202633	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.327000	0.79147	2.802000	0.96397	0.655000	0.94253	GAA		0.458	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		28	66	1	0	3.57733e-08	1	4.18982e-08	28	66				
MYO7A	4647	broad.mit.edu	37	11	76910822	76910822	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:76910822G>T	ENST00000409709.3	+	35	5083	c.4811G>T	c.(4810-4812)aGa>aTa	p.R1604I	MYO7A_ENST00000409619.2_Missense_Mutation_p.R1555I|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1566I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1604	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCCGGAAGAGATCTAAGTAT	0.577																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4810-4812)aGa>aTa		myosin VIIA							39.0	42.0	41.0					11																	76910822		1966	4134	6100	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76910822G>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4811G>T	11.37:g.76910822G>T	ENSP00000386331:p.Arg1604Ile					MYO7A_ENST00000409619.2_Missense_Mutation_p.R1555I|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1566I	p.R1604I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			35	5083	+			1604			SH3.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4811G>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026915	0.93518	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	4.97	4.97	0.65823	Src homology-3 domain (2);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.86834	0.6028	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.992	D;D;D	0.78314	0.954;0.991;0.954	D	0.89320	0.3639	10	0.87932	D	0	.	18.4094	0.90546	0.0:0.0:1.0:0.0	.	1555;1566;1604	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	I	1604;1566;1555;777;1603;1573;1480;747;219	ENSP00000386331:R1604I;ENSP00000392185:R1566I;ENSP00000386635:R1555I;ENSP00000417017:R747I	ENSP00000345075:R1480I	R	+	2	0	MYO7A	76588470	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.090000	0.71397	2.591000	0.87537	0.561000	0.74099	AGA		0.577	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		6	20	1	0	8.12818e-05	1	8.79784e-05	6	20				
CHEK2P2	646096	broad.mit.edu	37	15	20496803	20496803	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:20496803G>T	ENST00000555186.1	+	0	856					NR_038836.1				checkpoint kinase 2 pseudogene 2																		CTTTTTCACAGTCACTGATGT	0.313																																						ENST00000555186.1																			0																																																			0							g.chr15:20496803G>T			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496803G>T								NR_038836.1						0	856	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.313	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		5	13	1	0	1	1	1	5	13				
SCN1A	6323	broad.mit.edu	37	2	166866290	166866290	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166866290G>T	ENST00000303395.4	-	20	3940	c.3941C>A	c.(3940-3942)tCt>tAt	p.S1314Y	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1303Y|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1286Y|SCN1A_ENST00000423058.2_Missense_Mutation_p.S1314Y|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1314					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCCTGAGAGATTTGATGGC	0.383																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(3940-3942)tCt>tAt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						91.0	90.0	90.0					2																	166866290		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866290G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3941C>A	2.37:g.166866290G>T	ENSP00000303540:p.Ser1314Tyr					AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1286Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1303Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1314Y	p.S1314Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			20	3958	-			1314					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3941C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788969	0.90367	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.46	5.46	0.80206	Ion transport (1);	0.187464	0.38548	N	0.001660	D	0.99336	0.9767	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.87578	0.93;0.998;0.998	D	0.98779	1.0731	10	0.87932	D	0	.	19.3188	0.94229	0.0:0.0:1.0:0.0	.	1303;1286;1314	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Y	1314;1314;1303;1286	ENSP00000407030:S1314Y;ENSP00000303540:S1314Y;ENSP00000364554:S1303Y;ENSP00000386312:S1286Y	ENSP00000303540:S1314Y	S	-	2	0	SCN1A	166574536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.612000	0.98347	2.569000	0.86673	0.650000	0.86243	TCT		0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		16	25	1	0	1.37285e-15	1	1.81125e-15	16	25				
ARHGAP6	395	broad.mit.edu	37	X	11187706	11187706	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11187706C>A	ENST00000337414.4	-	9	2600	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q608H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q576H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q373H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q373H|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q401H|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q385H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	576	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGCTGAACTCTGAACTGAGA	0.473																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1726-1728)caG>caT		Rho GTPase activating protein 6							161.0	130.0	140.0					X																	11187706		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11187706C>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1728G>T	X.37:g.11187706C>A	ENSP00000338967:p.Gln576His					ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q385H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q373H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q576H|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q608H|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q401H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q373H	p.Q576H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			9	2600	-			576			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1728G>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280103	0.80692	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.57	5.57	0.84162	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.50627	D	0.000116	T	0.59418	0.2192	M	0.69358	2.11	0.80722	D	1	P;D;D;D;D	0.69078	0.838;0.974;0.993;0.994;0.997	B;P;D;P;P	0.65010	0.293;0.775;0.931;0.854;0.898	T	0.60464	-0.7258	10	0.49607	T	0.09	.	12.8841	0.58034	0.0:0.9206:0.0:0.0794	.	385;373;576;576;576	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	H	401;373;373;576;412;576;385;608	ENSP00000438135:Q401H;ENSP00000370112:Q373H;ENSP00000302312:Q373H;ENSP00000338967:Q576H;ENSP00000370093:Q412H;ENSP00000370094:Q576H;ENSP00000389394:Q385H;ENSP00000370108:Q608H	ENSP00000302312:Q373H	Q	-	3	2	ARHGAP6	11097627	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	2.879000	0.48522	2.344000	0.79699	0.544000	0.68410	CAG		0.473	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		17	63	1	0	8.60227e-14	1	1.10942e-13	17	63				
SCMH1	22955	broad.mit.edu	37	1	41541092	41541092	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:41541092G>A	ENST00000326197.7	-	8	1046	c.747C>T	c.(745-747)tcC>tcT	p.S249S	SCMH1_ENST00000372596.1_Silent_p.S188S|SCMH1_ENST00000361705.3_Silent_p.S202S|SCMH1_ENST00000456518.2_Silent_p.S91S|SCMH1_ENST00000361191.5_Silent_p.S188S|SCMH1_ENST00000372597.1_Silent_p.S202S|SCMH1_ENST00000372595.1_Silent_p.S188S|SCMH1_ENST00000402904.2_Silent_p.S249S|SCMH1_ENST00000397174.2_Silent_p.S229S|SCMH1_ENST00000397171.2_Silent_p.S188S|SCMH1_ENST00000337495.5_Silent_p.S259S					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TATTCACATCGGAGGCAGGAT	0.512																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(745-747)tcC>tcT		sex comb on midleg homolog 1 (Drosophila)							87.0	84.0	85.0					1																	41541092		2203	4300	6503	SO:0001819	synonymous_variant	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41541092G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.747C>T	1.37:g.41541092G>A						SCMH1_ENST00000372597.1_Silent_p.S202S|SCMH1_ENST00000361191.5_Silent_p.S188S|SCMH1_ENST00000337495.5_Silent_p.S259S|SCMH1_ENST00000326197.7_Silent_p.S249S|SCMH1_ENST00000372596.1_Silent_p.S188S|SCMH1_ENST00000456518.2_Silent_p.S91S|SCMH1_ENST00000397171.2_Silent_p.S188S|SCMH1_ENST00000397174.2_Silent_p.S229S|SCMH1_ENST00000372595.1_Silent_p.S188S|SCMH1_ENST00000361705.3_Silent_p.S202S	p.S249S	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			9	1115	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	249						Silent	SNP	ENST00000326197.7	37	c.747C>T	CCDS30688.1																																																																																				0.512	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			32	49	0	0	0	1	0	32	49				
PLPPR4	9890	broad.mit.edu	37	1	99771601	99771601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99771601C>T	ENST00000370185.3	+	7	1824	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	LPPR4_ENST00000370184.1_Nonsense_Mutation_p.R285*|LPPR4_ENST00000457765.1_Nonsense_Mutation_p.R385*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		443					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)		GGATTCCGCTCGATCAAAGCA	0.498																																						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.(1327-1329)Cga>Tga									69.0	69.0	69.0					1																	99771601		2203	4300	6503	SO:0001587	stop_gained	0						phosphatidate phosphatase activity	g.chr1:99771601C>T																												ENST00000370185.3:c.1327C>T	1.37:g.99771601C>T	ENSP00000359204:p.Arg443*					LPPR4_ENST00000370184.1_Nonsense_Mutation_p.R285*|LPPR4_ENST00000457765.1_Nonsense_Mutation_p.R385*	p.R443*	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	1824	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	443					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Nonsense_Mutation	SNP	ENST00000370185.3	37	c.1327C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	39	7.433103	0.98282	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	.	.	.	5.5	1.05	0.20165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7948	15.6283	0.76882	0.5474:0.4526:0.0:0.0	.	.	.	.	X	443;385;443;285	.	.	R	+	1	2	RP4-788L13.1	99544189	0.050000	0.20438	0.251000	0.24312	0.597000	0.36814	0.459000	0.21908	-0.097000	0.12307	-0.175000	0.13238	CGA		0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			4	86	0	0	0	1	0	4	86				
GOT1	2805	broad.mit.edu	37	10	101157417	101157417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101157417C>A	ENST00000370508.5	-	9	1156	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	GOT1_ENST00000543866.1_Nonsense_Mutation_p.E356*	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	377					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	ATGTGCTTTTCATTGACCAGA	0.458																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(1129-1131)Gaa>Taa		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						179.0	152.0	161.0					10																	101157417		2203	4300	6503	SO:0001587	stop_gained	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101157417C>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.1129G>T	10.37:g.101157417C>A	ENSP00000359539:p.Glu377*					GOT1_ENST00000543866.1_Nonsense_Mutation_p.E356*	p.E377*	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	9	1156	-		Ovarian(717;0.028)|Colorectal(252;0.234)	377					B2R6R7|B7Z7E9|Q5VW80	Nonsense_Mutation	SNP	ENST00000370508.5	37	c.1129G>T	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	36	5.894727	0.97074	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-23.274	18.5393	0.91022	0.0:1.0:0.0:0.0	.	.	.	.	X	377;330;356	.	ENSP00000359539:E377X	E	-	1	0	GOT1	101147407	1.000000	0.71417	0.989000	0.46669	0.816000	0.46133	4.608000	0.61141	2.676000	0.91093	0.655000	0.94253	GAA		0.458	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		35	64	1	0	8.4185e-14	1	1.08646e-13	35	64				
LGR5	8549	broad.mit.edu	37	12	71950416	71950416	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71950416G>T	ENST00000266674.5	+	6	973	c.662G>T	c.(661-663)aGa>aTa	p.R221I	LGR5_ENST00000536515.1_Missense_Mutation_p.R149I|LGR5_ENST00000540815.2_Missense_Mutation_p.R221I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	221					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CATAACAATAGAATCCACTCC	0.388																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(661-663)aGa>aTa		leucine-rich repeat containing G protein-coupled receptor 5							207.0	196.0	200.0					12																	71950416		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71950416G>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.662G>T	12.37:g.71950416G>T	ENSP00000266674:p.Arg221Ile					LGR5_ENST00000536515.1_Missense_Mutation_p.R149I|LGR5_ENST00000540815.2_Missense_Mutation_p.R221I	p.R221I			O75473	LGR5_HUMAN			6	973	+			221					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.662G>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413615	0.83449	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;D;T	0.90324	1.98;-2.65;1.98	5.55	4.65	0.58169	.	0.074592	0.56097	D	0.000025	D	0.92463	0.7607	M	0.62723	1.935	0.58432	D	0.999997	P;P	0.45474	0.658;0.859	B;P	0.52710	0.381;0.707	D	0.92955	0.6384	10	0.72032	D	0.01	.	15.3259	0.74160	0.0707:0.0:0.9293:0.0	.	221;221	O75473-2;O75473	.;LGR5_HUMAN	I	221;221;149;221	ENSP00000266674:R221I;ENSP00000443033:R149I;ENSP00000441035:R221I	ENSP00000266674:R221I	R	+	2	0	LGR5	70236683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.033000	0.49743	2.768000	0.95171	0.655000	0.94253	AGA		0.388	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		25	51	1	0	4.4004e-07	1	5.01286e-07	25	51				
SLC7A7	9056	broad.mit.edu	37	14	23242890	23242890	+	Missense_Mutation	SNP	A	A	G	rs386833810		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23242890A>G	ENST00000397532.3	-	10	1990	c.1465T>C	c.(1465-1467)Tca>Cca	p.S489P	SLC7A7_ENST00000554517.1_Missense_Mutation_p.S223P|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S489P|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S489P|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S489P|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S489P|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	489			S -> P (in LPI). {ECO:0000269|PubMed:12402335, ECO:0000269|PubMed:17764084}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCAGCAACTGACATACACAGG	0.478																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	GRCh37	CM022850	SLC7A7	M		c.(1465-1467)Tca>Cca		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							134.0	115.0	121.0					14																	23242890		2203	4300	6503	SO:0001583	missense	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23242890A>G	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1465T>C	14.37:g.23242890A>G	ENSP00000380666:p.Ser489Pro					SLC7A7_ENST00000397528.4_Missense_Mutation_p.S489P|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S489P|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S489P|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S489P|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S223P	p.S489P			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	10	1990	-	all_cancers(95;8.44e-05)		489		S -> P (in LPI).			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.1465T>C	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877780	0.51801	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.91180	-2.71;-2.71;-2.71;-2.71;-2.71;-2.8	5.52	4.37	0.52481	.	0.269693	0.37623	N	0.002006	D	0.86969	0.6061	L	0.48642	1.525	0.49051	D	0.999747	B	0.32101	0.356	B	0.33121	0.158	D	0.84569	0.0654	10	0.62326	D	0.03	.	11.0317	0.47776	0.8441:0.1559:0.0:0.0	.	489	Q9UM01	YLAT1_HUMAN	P	489;489;489;462;489;489;223	ENSP00000285850:S489P;ENSP00000451881:S489P;ENSP00000380666:S489P;ENSP00000380663:S489P;ENSP00000380662:S489P;ENSP00000452083:S223P	ENSP00000285850:S489P	S	-	1	0	SLC7A7	22312730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.669000	0.54561	0.912000	0.36772	0.460000	0.39030	TCA		0.478	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			19	35	0	0	0	1	0	19	35				
MAGEC2	51438	broad.mit.edu	37	X	141291545	141291545	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:141291545G>A	ENST00000247452.3	-	3	576	c.229C>T	c.(229-231)Cca>Tca	p.P77S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	77					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTAAGATTTGGTATCACACCA	0.517										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(229-231)Cca>Tca		melanoma antigen family C, 2							76.0	70.0	72.0					X																	141291545		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291545G>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.229C>T	X.37:g.141291545G>A	ENSP00000354660:p.Pro77Ser	HNSCC(46;0.14)					p.P77S	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	576	-	Acute lymphoblastic leukemia(192;6.56e-05)		77					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.229C>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	0.823	-0.748110	0.03065	.	.	ENSG00000046774	ENST00000247452	T	0.04360	3.64	0.731	-0.722	0.11184	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.03434	0.0099	N	0.12182	0.205	0.09310	N	1	D	0.56521	0.976	P	0.46585	0.521	T	0.41734	-0.9492	8	0.66056	D	0.02	.	.	.	.	.	77	Q9UBF1	MAGC2_HUMAN	S	77	ENSP00000354660:P77S	ENSP00000354660:P77S	P	-	1	0	MAGEC2	141119211	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.190000	0.09615	-0.348000	0.08286	0.179000	0.17066	CCA		0.517	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		22	59	0	0	0	1	0	22	59				
NLRC5	84166	broad.mit.edu	37	16	57113472	57113472	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57113472A>C	ENST00000262510.6	+	46	5477	c.5252A>C	c.(5251-5253)aAg>aCg	p.K1751T	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.K1722T|NLRC5_ENST00000308149.7_Missense_Mutation_p.K1722T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1751					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTTTCCTGTAAGATTGACAAC	0.577																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(5251-5253)aAg>aCg		NLR family, CARD domain containing 5							131.0	113.0	119.0					16																	57113472		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57113472A>C	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5252A>C	16.37:g.57113472A>C	ENSP00000262510:p.Lys1751Thr					NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.K1722T|NLRC5_ENST00000308149.7_Missense_Mutation_p.K1722T	p.K1751T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			46	5477	+		all_neural(199;0.225)	1751					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.5252A>C	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.881647	0.33255	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.54866	0.55;0.55;0.55	5.56	3.29	0.37713	.	0.978663	0.08277	N	0.970523	T	0.44561	0.1299	L	0.58810	1.83	0.26780	N	0.969623	P	0.34462	0.454	B	0.32677	0.15	T	0.33675	-0.9859	10	0.19147	T	0.46	.	5.0599	0.14551	0.7214:0.1859:0.0927:0.0	.	1751	Q86WI3	NLRC5_HUMAN	T	1751;1722;1722	ENSP00000262510:K1751T;ENSP00000308886:K1722T;ENSP00000441727:K1722T	ENSP00000262510:K1751T	K	+	2	0	NLRC5	55670973	0.212000	0.23540	0.846000	0.33378	0.846000	0.48090	0.862000	0.27899	0.896000	0.36366	0.533000	0.62120	AAG		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		48	103	0	0	0	1	0	48	103				
BNIP3	664	broad.mit.edu	37	10	133784368	133784368	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:133784368T>G	ENST00000368636.4	-	4	513	c.389A>C	c.(388-390)aAg>aCg	p.K130T	BNIP3_ENST00000540159.1_Splice_Site_p.K130T	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	130					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACACACTCACTTGGGGGGAAT	0.473																																						ENST00000540159.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7						c.e4+1		BCL2/adenovirus E1B 19kDa interacting protein 3							104.0	103.0	103.0					10																	133784368		2203	4300	6503	SO:0001630	splice_region_variant	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133784368T>G	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.389+1A>C	10.37:g.133784368T>G						BNIP3_ENST00000368636.4_Splice_Site_p.K130_splice	p.K130_splice			Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	4	505	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	130					O14620|Q96GP0	Splice_Site	SNP	ENST00000368636.4	37	c.389_splice	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962469	0.74016	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	3.66	3.66	0.41972	.	0.091679	0.85682	D	0.000000	T	0.76263	0.3963	M	0.78049	2.395	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.78811	-0.2057	8	.	.	.	-9.6007	13.3593	0.60646	0.0:0.0:0.0:1.0	.	130	Q12983	BNIP3_HUMAN	T	130	.	.	K	-	2	0	BNIP3	133634358	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.760000	0.74939	1.906000	0.55180	0.460000	0.39030	AAG		0.473	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1		Missense_Mutation	4	61	0	0	0	1	0	4	61				
BEND6	221336	broad.mit.edu	37	6	56882100	56882100	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56882100C>T	ENST00000370746.3	+	5	884	c.615C>T	c.(613-615)taC>taT	p.Y205Y	BEND6_ENST00000545789.1_Silent_p.Y107Y|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	205	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATGAATACATGGCCACTC	0.393																																						ENST00000370746.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(613-615)taC>taT		BEN domain containing 6							79.0	73.0	75.0					6																	56882100		1906	4129	6035	SO:0001819	synonymous_variant	221336							g.chr6:56882100C>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.615C>T	6.37:g.56882100C>T						BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Silent_p.Y107Y	p.Y205Y	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN			5	884	+			205			BEN.		Q4G0W8|Q8N662|Q96NS6	Silent	SNP	ENST00000370746.3	37	c.615C>T	CCDS43476.1																																																																																				0.393	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		9	19	0	0	0	1	0	9	19				
ECT2L	345930	broad.mit.edu	37	6	139159530	139159530	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139159530A>G	ENST00000423192.1	+	4	382	c.221A>G	c.(220-222)aAa>aGa	p.K74R	ECT2L_ENST00000367682.2_Missense_Mutation_p.K74R|ECT2L_ENST00000541398.1_Missense_Mutation_p.K5R			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	74							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAAGTGGCCAAAGTGGACTTC	0.388			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(220-222)aAa>aGa		epithelial cell transforming sequence 2 oncogene-like							115.0	107.0	109.0					6																	139159530		1833	4088	5921	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139159530A>G		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.221A>G	6.37:g.139159530A>G	ENSP00000387388:p.Lys74Arg					ECT2L_ENST00000541398.1_Missense_Mutation_p.K5R|ECT2L_ENST00000367682.2_Missense_Mutation_p.K74R	p.K74R			Q008S8	ECT2L_HUMAN			4	382	+			74					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.221A>G	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	A	0.660	-0.806008	0.02819	.	.	ENSG00000203734	ENST00000423192;ENST00000401414;ENST00000367682;ENST00000541398	T;T;T;T	0.54675	0.56;0.96;0.56;0.56	5.83	-4.38	0.03622	F-box domain, Skp2-like (1);	1.220630	0.06777	N	0.784502	T	0.06917	0.0176	N	0.01576	-0.805	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.25813	-1.0121	10	0.16420	T	0.52	-0.0746	8.6715	0.34154	0.3452:0.1293:0.5255:0.0	.	5;74	F5H7S9;Q008S8	.;ECT2L_HUMAN	R	74;74;74;5	ENSP00000387388:K74R;ENSP00000385187:K74R;ENSP00000356655:K74R;ENSP00000442307:K5R	ENSP00000356655:K74R	K	+	2	0	ECT2L	139201223	0.509000	0.26163	0.834000	0.33040	0.088000	0.18126	0.306000	0.19279	-0.632000	0.05553	-1.173000	0.01734	AAA		0.388	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		18	23	0	0	0	1	0	18	23				
ZNF337	26152	broad.mit.edu	37	20	25656432	25656432	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25656432G>A	ENST00000376436.1	-	4	2031	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R498W|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R466W|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R498W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACTTATCCCGAAACCTTCGC	0.498																																						ENST00000376436.1																			1	Substitution - Missense(1)	p.R498W(1)	large_intestine(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1492-1494)Cgg>Tgg		zinc finger protein 337							108.0	107.0	107.0					20																	25656432		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25656432G>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1492C>T	20.37:g.25656432G>A	ENSP00000365619:p.Arg498Trp					ZNF337_ENST00000252979.5_Missense_Mutation_p.R498W|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R466W	p.R498W							4	2031	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1492C>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.757325	0.49468	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.54071	0.59;0.59;0.59	1.29	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54062	0.1835	M	0.81802	2.56	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.50659	0.647;0.647	T	0.49293	-0.8955	9	0.72032	D	0.01	.	0.6769	0.00868	0.1934:0.344:0.2147:0.248	.	466;498	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	W	498;498;498;466	ENSP00000365619:R498W;ENSP00000252979:R498W;ENSP00000442181:R466W	ENSP00000252979:R498W	R	-	1	2	ZNF337	25604432	0.008000	0.16893	0.000000	0.03702	0.914000	0.54420	-0.121000	0.10643	-1.076000	0.03125	0.298000	0.19748	CGG		0.498	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			46	77	0	0	0	1	0	46	77				
TSKS	60385	broad.mit.edu	37	19	50251695	50251695	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50251695T>C	ENST00000246801.3	-	3	513	c.431A>G	c.(430-432)aAa>aGa	p.K144R	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	144					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GATGGAGTCTTTGGCGCGGAC	0.562																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(430-432)aAa>aGa		testis-specific serine kinase substrate							121.0	99.0	106.0					19																	50251695		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50251695T>C	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.431A>G	19.37:g.50251695T>C	ENSP00000246801:p.Lys144Arg						p.K144R	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	3	513	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	144					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.431A>G	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217611	0.79352	.	.	ENSG00000126467	ENST00000246801	T	0.42131	0.98	4.85	4.85	0.62838	.	0.000000	0.56097	D	0.000023	T	0.50343	0.1610	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.51132	-0.8744	10	0.52906	T	0.07	-14.7354	12.0544	0.53527	0.0:0.0:0.0:1.0	.	144	Q9UJT2	TSKS_HUMAN	R	144	ENSP00000246801:K144R	ENSP00000246801:K144R	K	-	2	0	TSKS	54943507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.960000	0.56752	2.041000	0.60428	0.379000	0.24179	AAA		0.562	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		12	45	0	0	0	1	0	12	45				
APC	324	broad.mit.edu	37	5	112175120	112175120	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112175120T>G	ENST00000457016.1	+	16	4209	c.3829T>G	c.(3829-3831)Tta>Gta	p.L1277V	APC_ENST00000257430.4_Missense_Mutation_p.L1277V|APC_ENST00000508376.2_Missense_Mutation_p.L1277V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1277	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGTAGTTCATTATCATCTTT	0.343		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(3829-3831)Tta>Gta		adenomatous polyposis coli							53.0	56.0	55.0					5																	112175120		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175120T>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3829T>G	5.37:g.112175120T>G	ENSP00000413133:p.Leu1277Val	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.L1277V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.L1277V	p.L1277V			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4209	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1277			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.3829T>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.393118	0.42410	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	6.03	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	M	0.79926	2.475	0.47153	D	0.999335	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.88492	0.3076	9	.	.	.	-12.7153	8.966	0.35877	0.0:0.1707:0.0:0.8293	.	1279;1277	Q4LE70;P25054	.;APC_HUMAN	V	1277	ENSP00000413133:L1277V;ENSP00000257430:L1277V;ENSP00000427089:L1277V;ENSP00000423828:L1277V	.	L	+	1	2	APC	112203019	0.976000	0.34144	1.000000	0.80357	0.993000	0.82548	0.623000	0.24447	0.950000	0.37743	0.533000	0.62120	TTA		0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		14	28	0	0	0	1	0	14	28				
HAUS3	79441	broad.mit.edu	37	4	2242595	2242595	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:2242595A>C	ENST00000243706.4	-	2	308	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.F27V|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.F27V	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	27					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AACCAGTCAAAGTCTTCTCCA	0.373																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(79-81)Ttt>Gtt		HAUS augmin-like complex, subunit 3							96.0	90.0	92.0					4																	2242595		2203	4300	6503	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242595A>C	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.79T>G	4.37:g.2242595A>C	ENSP00000243706:p.Phe27Val					POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.F27V|HAUS3_ENST00000506763.1_Missense_Mutation_p.F27V	p.F27V	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			2	308	-			27					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.79T>G	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.806085	0.90623	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786;ENST00000514395	T;T	0.57595	0.39;0.39	4.68	4.68	0.58851	.	0.000000	0.85682	U	0.000000	T	0.72053	0.3413	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76639	-0.2885	10	0.87932	D	0	-20.0204	13.599	0.62007	1.0:0.0:0.0:0.0	.	27;27	B4DF64;Q68CZ6	.;HAUS3_HUMAN	V	27	ENSP00000243706:F27V;ENSP00000392903:F27V	ENSP00000243706:F27V	F	-	1	0	HAUS3	2212393	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.756000	0.85195	1.850000	0.53721	0.459000	0.35465	TTT		0.373	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		8	68	0	0	0	1	0	8	68				
ATR	545	broad.mit.edu	37	3	142281126	142281126	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142281126C>A	ENST00000350721.4	-	4	1239	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	ATR_ENST00000383101.3_Missense_Mutation_p.R373I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	373					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACAAATATTTCTCACATAGAC	0.358								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1117-1119)aGa>aTa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							70.0	71.0	71.0					3																	142281126		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281126C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1118G>T	3.37:g.142281126C>A	ENSP00000343741:p.Arg373Ile					ATR_ENST00000383101.3_Missense_Mutation_p.R373I	p.R373I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	1239	-			373					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1118G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996354	0.35226	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.65732	-0.17;-0.17	5.67	1.84	0.25277	Armadillo-type fold (1);	0.956568	0.08790	N	0.893384	T	0.43942	0.1270	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.30475	-0.9977	10	0.40728	T	0.16	-0.9348	8.2024	0.31432	0.0:0.4655:0.339:0.1955	.	373	Q13535	ATR_HUMAN	I	373;373;54	ENSP00000343741:R373I;ENSP00000372581:R373I	ENSP00000343741:R373I	R	-	2	0	ATR	143763816	0.000000	0.05858	0.913000	0.36048	0.943000	0.58893	0.002000	0.13061	0.056000	0.16144	-1.273000	0.01405	AGA		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		21	46	1	0	5.26018e-13	1	6.70247e-13	21	46				
CCDC65	85478	broad.mit.edu	37	12	49315203	49315203	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49315203G>A	ENST00000320516.4	+	8	1620	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	478										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CCATCCAGGTGATAAACAACA	0.413																																						ENST00000320516.4																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(1432-1434)Gat>Aat		coiled-coil domain containing 65							87.0	80.0	82.0					12																	49315203		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49315203G>A		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.1432G>A	12.37:g.49315203G>A	ENSP00000312706:p.Asp478Asn					ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron	p.D478N	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN			8	1620	+			478					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.1432G>A	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249443	0.39797	.	.	ENSG00000139537	ENST00000320516	T	0.32515	1.45	5.56	2.71	0.32032	.	0.918116	0.09359	N	0.812972	T	0.24967	0.0606	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27297	-1.0078	9	.	.	.	.	10.851	0.46769	0.1911:0.0:0.8089:0.0	.	478	Q8IXS2	CCD65_HUMAN	N	478	ENSP00000312706:D478N	.	D	+	1	0	CCDC65	47601470	0.002000	0.14202	0.004000	0.12327	0.190000	0.23558	0.302000	0.19192	0.377000	0.24735	0.591000	0.81541	GAT		0.413	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		24	49	0	0	0	1	0	24	49				
FNDC3A	22862	broad.mit.edu	37	13	49776035	49776035	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49776035T>C	ENST00000492622.2	+	24	3392	c.3087T>C	c.(3085-3087)gcT>gcC	p.A1029A	FNDC3A_ENST00000398316.3_Silent_p.A973A|FNDC3A_ENST00000541916.1_Silent_p.A1029A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1029	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTAATGAAGCTGGGGAAGGTC	0.373																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3085-3087)gcT>gcC		fibronectin type III domain containing 3A							83.0	85.0	84.0					13																	49776035		2203	4300	6503	SO:0001819	synonymous_variant	22862					Golgi membrane|integral to membrane		g.chr13:49776035T>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3087T>C	13.37:g.49776035T>C						FNDC3A_ENST00000541916.1_Silent_p.A1029A|FNDC3A_ENST00000398316.3_Silent_p.A973A	p.A1029A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	24	3392	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1029			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	c.3087T>C	CCDS41886.1																																																																																				0.373	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		12	21	0	0	0	1	0	12	21				
PCDHB10	56126	broad.mit.edu	37	5	140572226	140572226	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140572226C>T	ENST00000239446.4	+	1	285	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	34					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGTTATTCGGTGACTGAG	0.507																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(100-102)tCg>tTg									81.0	91.0	87.0					5																	140572226		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572226C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.101C>T	5.37:g.140572226C>T	ENSP00000239446:p.Ser34Leu						p.S34L	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	285	+			34					Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.101C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784704	0.49997	.	.	ENSG00000120324	ENST00000239446	T	0.36340	1.26	3.35	0.325	0.15903	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.59224	0.2178	H	0.94964	3.605	0.09310	N	1	D	0.59357	0.985	P	0.55222	0.771	T	0.52668	-0.8545	9	0.66056	D	0.02	.	8.05	0.30572	0.0:0.5953:0.3142:0.0906	.	34	Q9UN67	PCDBA_HUMAN	L	34	ENSP00000239446:S34L	ENSP00000239446:S34L	S	+	2	0	PCDHB10	140552410	0.006000	0.16342	0.015000	0.15790	0.731000	0.41821	1.435000	0.34969	-0.046000	0.13446	-0.345000	0.07892	TCG		0.507	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		37	73	0	0	0	1	0	37	73				
RP11-24M17.5	0	broad.mit.edu	37	15	76073366	76073366	+	RNA	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:76073366A>T	ENST00000395215.3	+	0	559																											CAAGAATTGGAGCGGGCTCTC	0.567																																						ENST00000395215.3																			0																																																			0							g.chr15:76073366A>T																													15.37:g.76073366A>T														0	559	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	9.388	1.074785	0.20227	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	T	0.65112	0.2660	.	.	.	.	.	.	D	0.76494	0.999	D	0.76575	0.988	T	0.68108	-0.5496	6	0.87932	D	0	.	5.7342	0.18057	0.9999:0.0:1.0E-4:0.0	.	173	B4DZE6	.	V	173	.	ENSP00000378641:E173V	E	+	2	0	AC019294.2	73860421	1.000000	0.71417	0.107000	0.21349	0.320000	0.28249	5.746000	0.68681	0.588000	0.29660	0.136000	0.15936	GAG		0.567	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			26	46	0	0	0	1	0	26	46				
RNF170	81790	broad.mit.edu	37	8	42711377	42711377	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42711377G>T	ENST00000534961.1	-	7	1178	c.702C>A	c.(700-702)ttC>ttA	p.F234L	RNF170_ENST00000526349.1_Missense_Mutation_p.F150L|RNF170_ENST00000319073.4_Missense_Mutation_p.F138L|RNF170_ENST00000319104.3_Intron|RNF170_ENST00000527424.1_Missense_Mutation_p.F234L	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	234					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGATGACAAAGAAATCATCTA	0.318																																						ENST00000534961.1																			0				lung(3)	3						c.(700-702)ttC>ttA		ring finger protein 170							66.0	71.0	70.0					8																	42711377		2203	4300	6503	SO:0001583	missense	81790					integral to membrane	zinc ion binding	g.chr8:42711377G>T	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"""RING-type (C3HC4) zinc fingers"""	25358	protein-coding gene	gene with protein product		614649	"""sensory ataxia 1 (autosomal dominant)"""	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.702C>A	8.37:g.42711377G>T	ENSP00000445725:p.Phe234Leu					RNF170_ENST00000527424.1_Missense_Mutation_p.F234L|RNF170_ENST00000319104.3_Intron|RNF170_ENST00000526349.1_Missense_Mutation_p.F150L|RNF170_ENST00000319073.4_Missense_Mutation_p.F138L	p.F234L	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		7	1178	-	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	234					D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Missense_Mutation	SNP	ENST00000534961.1	37	c.702C>A	CCDS6138.1	.	.	.	.	.	.	.	.	.	.	G	8.526	0.869794	0.17322	.	.	ENSG00000120925	ENST00000534961;ENST00000319073;ENST00000527424;ENST00000526349	T;T;T;D	0.85339	-1.44;-0.9;-1.44;-1.97	6.08	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.79690	0.4489	N	0.03000	-0.44	0.80722	D	1	D;B	0.71674	0.998;0.002	D;B	0.76071	0.987;0.005	T	0.76162	-0.3060	10	0.05620	T	0.96	-5.2878	15.3819	0.74664	0.0665:0.0:0.9335:0.0	.	138;234	Q96K19-4;Q96K19	.;RN170_HUMAN	L	234;138;234;150	ENSP00000445725:F234L;ENSP00000325969:F138L;ENSP00000434797:F234L;ENSP00000435782:F150L	ENSP00000325969:F138L	F	-	3	2	RNF170	42830534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.166000	0.71896	1.591000	0.50007	-0.136000	0.14681	TTC		0.318	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	NM_030954		26	39	1	0	2.79863e-10	1	3.42475e-10	26	39				
SIGLEC1	6614	broad.mit.edu	37	20	3680010	3680010	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3680010C>T	ENST00000344754.4	-	7	1624	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R542H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	542	Ig-like C2-type 5.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCAGGAGAAGCGGGCATCAGG	0.672																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1624-1626)cGc>cAc		sialic acid binding Ig-like lectin 1, sialoadhesin							47.0	34.0	38.0					20																	3680010		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3680010C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1625G>A	20.37:g.3680010C>T	ENSP00000341141:p.Arg542His					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R542H	p.R542H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			7	1624	-			542			Ig-like C2-type 5.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1625G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938744	0.52972	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.13196	2.61;2.61	5.46	2.04	0.26737	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000715	T	0.20007	0.0481	L	0.29908	0.895	0.34570	D	0.713372	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.977	T	0.17137	-1.0379	10	0.52906	T	0.07	.	7.3644	0.26764	0.3:0.613:0.0:0.087	.	542;542	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	H	542	ENSP00000341141:R542H;ENSP00000202578:R542H	ENSP00000202578:R542H	R	-	2	0	SIGLEC1	3628010	0.009000	0.17119	0.969000	0.41365	0.433000	0.31745	-0.171000	0.09883	0.657000	0.30906	0.655000	0.94253	CGC		0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		14	10	0	0	0	1	0	14	10				
JAK2	3717	broad.mit.edu	37	9	5066779	5066779	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5066779T>C	ENST00000381652.3	+	10	1810	c.1316T>C	c.(1315-1317)tTt>tCt	p.F439S	JAK2_ENST00000539801.1_Missense_Mutation_p.F439S|JAK2_ENST00000544510.1_Missense_Mutation_p.F290S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	439	SH2; atypical. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTTTTGACTTTTGCTGTCGAG	0.313		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(1315-1317)tTt>tCt		Janus kinase 2							52.0	54.0	53.0					9																	5066779		2202	4298	6500	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5066779T>C		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1316T>C	9.37:g.5066779T>C	ENSP00000371067:p.Phe439Ser					JAK2_ENST00000544510.1_Missense_Mutation_p.F290S|JAK2_ENST00000539801.1_Missense_Mutation_p.F439S	p.F439S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	10	1810	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	439			SH2; atypical.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.1316T>C	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.400215	0.83120	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.56103	0.48;0.48;0.48	5.51	5.51	0.81932	SH2 motif (4);	0.046831	0.85682	D	0.000000	T	0.66470	0.2792	M	0.63428	1.95	0.80722	D	1	D	0.55800	0.973	P	0.58391	0.838	T	0.70332	-0.4901	10	0.87932	D	0	-20.407	15.2855	0.73826	0.0:0.0:0.0:1.0	.	439	O60674	JAK2_HUMAN	S	439;439;290	ENSP00000440387:F439S;ENSP00000371067:F439S;ENSP00000443103:F290S	ENSP00000371067:F439S	F	+	2	0	JAK2	5056779	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.642000	0.83385	2.082000	0.62665	0.374000	0.22700	TTT		0.313	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			9	12	0	0	0	1	0	9	12				
OPN5	221391	broad.mit.edu	37	6	47776108	47776108	+	Missense_Mutation	SNP	G	G	T	rs374749183		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47776108G>T	ENST00000371211.2	+	5	1003	c.975G>T	c.(973-975)aaG>aaT	p.K325N	OPN5_ENST00000393699.2_Missense_Mutation_p.K325N|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Missense_Mutation_p.K325N	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	325					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAGCAACCAAGAAGAAGTCTC	0.413																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(973-975)aaG>aaT		opsin 5							92.0	95.0	94.0					6																	47776108		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47776108G>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.975G>T	6.37:g.47776108G>T	ENSP00000360255:p.Lys325Asn					OPN5_ENST00000371211.2_Missense_Mutation_p.K325N|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.K325N	p.K325N			Q6U736	OPN5_HUMAN			5	1060	+			325					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.975G>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360067	0.41801	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.67865	-0.24;-0.29;-0.27	5.29	4.41	0.53225	.	0.402882	0.29328	N	0.012467	T	0.34395	0.0896	L	0.29908	0.895	0.36288	D	0.856238	P	0.34462	0.454	B	0.27380	0.079	T	0.37596	-0.9699	10	0.48119	T	0.1	.	10.4433	0.44479	0.153:0.0:0.847:0.0	.	325	Q6U736	OPN5_HUMAN	N	325	ENSP00000426991:K325N;ENSP00000360255:K325N;ENSP00000377302:K325N	ENSP00000360255:K325N	K	+	3	2	OPN5	47884067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.808000	0.55598	1.346000	0.45694	0.650000	0.86243	AAG		0.413	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		7	68	1	0	8.12818e-05	1	8.79784e-05	7	68				
CNNM1	26507	broad.mit.edu	37	10	101124759	101124759	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101124759C>T	ENST00000356713.4	+	6	2465	c.2176C>T	c.(2176-2178)Cta>Tta	p.L726L	CNNM1_ENST00000370534.4_Splice_Site_p.L361L|CNNM1_ENST00000446890.1_Splice_Site_p.L655L|CNNM1_ENST00000370528.3_Splice_Site_p.L655L	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	726					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTCTGTCTTTCGTATGTATCT	0.547																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.e6+1		cyclin M1							196.0	157.0	170.0					10																	101124759		2203	4300	6503	SO:0001630	splice_region_variant	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101124759C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2176+1C>T	10.37:g.101124759C>T						CNNM1_ENST00000446890.1_Splice_Site_p.L655_splice|CNNM1_ENST00000370528.3_Splice_Site_p.L655_splice|CNNM1_ENST00000370534.4_Splice_Site_p.L361_splice	p.L726_splice	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	6	2465	+		Colorectal(252;0.234)	726					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Splice_Site	SNP	ENST00000356713.4	37	c.2176_splice	CCDS7478.2																																																																																				0.547	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	Silent	15	16	0	0	0	1	0	15	16				
MADD	8567	broad.mit.edu	37	11	47297547	47297547	+	Nonsense_Mutation	SNP	C	C	T	rs369333371		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47297547C>T	ENST00000311027.5	+	4	922	c.757C>T	c.(757-759)Cga>Tga	p.R253*	MADD_ENST00000349238.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395336.3_Nonsense_Mutation_p.R253*|MADD_ENST00000402799.1_Nonsense_Mutation_p.R253*|MADD_ENST00000406482.1_Nonsense_Mutation_p.R253*|MADD_ENST00000342922.4_Nonsense_Mutation_p.R253*|MADD_ENST00000402192.2_Nonsense_Mutation_p.R253*|MADD_ENST00000407859.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395344.3_Nonsense_Mutation_p.R253*	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGGATCTATCGATTGCTGCG	0.562																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(757-759)Cga>Tga		MAP-kinase activating death domain							149.0	128.0	135.0					11																	47297547		2201	4298	6499	SO:0001587	stop_gained	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47297547C>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.757C>T	11.37:g.47297547C>T	ENSP00000310933:p.Arg253*					MADD_ENST00000402192.2_Nonsense_Mutation_p.R253*|MADD_ENST00000407859.3_Nonsense_Mutation_p.R253*|MADD_ENST00000402799.1_Nonsense_Mutation_p.R253*|MADD_ENST00000349238.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395344.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395336.3_Nonsense_Mutation_p.R253*|MADD_ENST00000311027.5_Nonsense_Mutation_p.R253*|MADD_ENST00000406482.1_Nonsense_Mutation_p.R253*	p.R253*	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	4	1114	+			253			DENN.			Nonsense_Mutation	SNP	ENST00000311027.5	37	c.757C>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	38	6.902503	0.97924	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	.	.	.	5.64	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2843	14.9013	0.70681	0.2609:0.739:0.0:0.0	.	.	.	.	X	253;253;31;253;253;253;253;253;253;253;253	.	ENSP00000310933:R253X	R	+	1	2	MADD	47254123	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.373000	0.44266	1.363000	0.46019	-0.182000	0.12963	CGA		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			41	54	0	0	0	1	0	41	54				
CEP135	9662	broad.mit.edu	37	4	56878113	56878113	+	Nonsense_Mutation	SNP	C	C	T	rs369943972		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56878113C>T	ENST00000257287.4	+	21	2888	c.2764C>T	c.(2764-2766)Cga>Tga	p.R922*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	922					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAGACATCTTCGAGAAAGAGT	0.383																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(2764-2766)Cga>Tga		centrosomal protein 135kDa		C	stop/ARG	1,4405		0,1,2202	59.0	60.0	59.0		2764	3.8	1.0	4		59	0,8600		0,0,4300	no	stop-gained	CEP135	NM_025009.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		922/1141	56878113	1,13005	2203	4300	6503	SO:0001587	stop_gained	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56878113C>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2764C>T	4.37:g.56878113C>T	ENSP00000257287:p.Arg922*						p.R922*	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			21	2888	+	Glioma(25;0.08)|all_neural(26;0.101)		922					B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	c.2764C>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	41	8.763685	0.98945	2.27E-4	0.0	ENSG00000174799	ENST00000257287	.	.	.	5.69	3.81	0.43845	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	14.1786	0.65559	0.3761:0.6239:0.0:0.0	.	.	.	.	X	922	.	ENSP00000257287:R922X	R	+	1	2	CEP135	56572870	0.951000	0.32395	1.000000	0.80357	0.996000	0.88848	1.323000	0.33701	1.496000	0.48567	0.655000	0.94253	CGA		0.383	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		16	42	0	0	0	1	0	16	42				
PRDM5	11107	broad.mit.edu	37	4	121742491	121742491	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121742491T>G	ENST00000264808.3	-	4	550	c.310A>C	c.(310-312)Aac>Cac	p.N104H	PRDM5_ENST00000515109.1_Missense_Mutation_p.N104H|PRDM5_ENST00000428209.2_Missense_Mutation_p.N104H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	104	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGAAAATGTTTTCTCCTTCC	0.338																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(310-312)Aac>Cac		PR domain containing 5							93.0	89.0	90.0					4																	121742491		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121742491T>G	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.310A>C	4.37:g.121742491T>G	ENSP00000264808:p.Asn104His					PRDM5_ENST00000428209.2_Missense_Mutation_p.N104H|PRDM5_ENST00000515109.1_Missense_Mutation_p.N104H	p.N104H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			4	550	-			104			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.310A>C	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462785	0.84425	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	D;D;D	0.85088	-1.94;-1.94;-1.94	5.33	5.33	0.75918	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.88381	0.6421	L	0.35542	1.07	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.994;0.999;0.994	D	0.89205	0.3560	10	0.54805	T	0.06	-47.2498	15.5932	0.76554	0.0:0.0:0.0:1.0	.	104;104;104	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	H	104	ENSP00000264808:N104H;ENSP00000422309:N104H;ENSP00000404832:N104H	ENSP00000264808:N104H	N	-	1	0	PRDM5	121961941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.929000	0.87595	2.134000	0.65973	0.482000	0.46254	AAC		0.338	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			25	33	0	0	0	1	0	25	33				
RIF1	55183	broad.mit.edu	37	2	152273332	152273332	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152273332A>C	ENST00000243326.5	+	5	903	c.420A>C	c.(418-420)atA>atC	p.I140I	RIF1_ENST00000433166.2_Silent_p.I140I|RIF1_ENST00000428287.2_Silent_p.I140I|RIF1_ENST00000453091.2_Silent_p.I140I|RIF1_ENST00000444746.2_Silent_p.I140I|RIF1_ENST00000430328.2_Silent_p.I140I			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATCCAGTATAATTGATTCAT	0.289																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(418-420)atA>atC		RAP1 interacting factor homolog (yeast)							137.0	135.0	135.0					2																	152273332		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152273332A>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.420A>C	2.37:g.152273332A>C						RIF1_ENST00000433166.2_Silent_p.I140I|RIF1_ENST00000428287.2_Silent_p.I140I|RIF1_ENST00000453091.2_Silent_p.I140I|RIF1_ENST00000444746.2_Silent_p.I140I|RIF1_ENST00000430328.2_Silent_p.I140I	p.I140I			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	5	903	+			140					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.420A>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	9.909	1.209008	0.22205	.	.	ENSG00000080345	ENST00000414861	.	.	.	5.76	-1.69	0.08186	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48547	-0.9026	4	.	.	.	-23.6144	9.0362	0.36289	0.261:0.1071:0.0:0.6319	.	.	.	.	H	132	.	.	N	+	1	0	RIF1	151981578	0.991000	0.36638	0.975000	0.42487	0.989000	0.77384	0.299000	0.19138	-0.418000	0.07450	-0.344000	0.07964	AAT		0.289	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			23	29	0	0	0	1	0	23	29				
ATG16L2	89849	broad.mit.edu	37	11	72537800	72537800	+	Missense_Mutation	SNP	C	C	T	rs370896555		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72537800C>T	ENST00000321297.5	+	13	1436	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	433					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TTCAAGCTAACGAGGCACCAG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16590	0.0		0.0	False		,,,				2504	0.0					ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(1297-1299)aCg>aTg		autophagy related 16-like 2 (S. cerevisiae)		C	MET/THR	0,4400		0,0,2200	62.0	66.0	64.0		1298	3.6	0.1	11		64	1,8585	1.2+/-3.3	0,1,4292	no	missense	ATG16L2	NM_033388.1	81	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	433/620	72537800	1,12985	2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72537800C>T	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1298C>T	11.37:g.72537800C>T	ENSP00000326340:p.Thr433Met					ATG16L2_ENST00000534905.1_Intron	p.T433M	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		13	1436	+			433					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1298C>T	CCDS31634.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920049	0.33908	0.0	1.16E-4	ENSG00000168010	ENST00000321297;ENST00000538973;ENST00000541367	T;T;T	0.60672	0.17;0.17;0.17	5.63	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.563422	0.17730	N	0.163932	T	0.65144	0.2663	L	0.46819	1.47	0.09310	N	0.999996	D;D	0.76494	0.997;0.999	P;D	0.67725	0.871;0.953	T	0.54118	-0.8341	10	0.87932	D	0	.	8.3653	0.32382	0.1551:0.7623:0.0:0.0825	.	327;433	Q8NAA4-2;Q8NAA4	.;A16L2_HUMAN	M	433;264;264	ENSP00000326340:T433M;ENSP00000441989:T264M;ENSP00000437412:T264M	ENSP00000326340:T433M	T	+	2	0	ATG16L2	72215448	0.014000	0.17966	0.053000	0.19242	0.232000	0.25224	0.539000	0.23175	1.512000	0.48834	0.561000	0.74099	ACG		0.612	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		37	62	0	0	0	1	0	37	62				
NAA10	8260	broad.mit.edu	37	X	153195617	153195617	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153195617C>A	ENST00000464845.1	-	8	849	c.531G>T	c.(529-531)gaG>gaT	p.E177D	NAA10_ENST00000370009.1_Missense_Mutation_p.E162D|NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000393710.3_5'Flank	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	177					DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						CCACCTTGTTCTCGATGGCAC	0.627																																					Ovarian(94;1099 1433 38814 45882 51063)	ENST00000464845.1																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						c.(529-531)gaG>gaT		N(alpha)-acetyltransferase 10, NatA catalytic subunit							123.0	96.0	105.0					X																	153195617		2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153195617C>A	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.531G>T	X.37:g.153195617C>A	ENSP00000417763:p.Glu177Asp					NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.E162D|NAA10_ENST00000393712.3_3'UTR	p.E177D	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN			8	849	-			177					A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.531G>T	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554782	0.45487	.	.	ENSG00000102030	ENST00000464845;ENST00000370009	T;T	0.58797	0.31;0.35	4.61	3.74	0.42951	.	0.059055	0.64402	D	0.000004	T	0.41534	0.1163	L	0.39898	1.24	0.41541	D	0.988513	P;P	0.41041	0.736;0.736	B;B	0.35550	0.205;0.205	T	0.23797	-1.0178	10	0.33141	T	0.24	-27.914	7.3575	0.26727	0.0:0.7922:0.0:0.2078	.	162;177	A6NM98;P41227	.;NAA10_HUMAN	D	177;162	ENSP00000417763:E177D;ENSP00000359026:E162D	ENSP00000359026:E162D	E	-	3	2	NAA10	152848811	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	1.785000	0.38684	0.945000	0.37605	0.523000	0.50628	GAG		0.627	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		31	58	1	0	3.90053e-15	1	5.12206e-15	31	58				
AHRR	57491	broad.mit.edu	37	5	353941	353941	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:353941C>T	ENST00000505113.1	+	3	215	c.171C>T	c.(169-171)ttC>ttT	p.F57F	AHRR_ENST00000515206.1_Silent_p.F53F|AHRR_ENST00000316418.5_Silent_p.F57F|AHRR_ENST00000512529.1_Intron	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	57	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGCTGCCGTTCCCGCCTGACA	0.622																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(169-171)ttC>ttT		aryl-hydrocarbon receptor repressor							93.0	106.0	102.0					5																	353941		2135	4237	6372	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:353941C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.171C>T	5.37:g.353941C>T						AHRR_ENST00000505113.1_Silent_p.F57F|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Silent_p.F53F	p.F57F	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		3	215	+			57			Helix-loop-helix motif.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.171C>T	CCDS56355.1																																																																																				0.622	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		20	55	0	0	0	1	0	20	55				
TRNAU1AP	54952	broad.mit.edu	37	1	28897731	28897731	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:28897731A>G	ENST00000373830.3	+	7	600	c.574A>G	c.(574-576)Agc>Ggc	p.S192G		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	192	Tyr-rich.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						GTACAGTTATAGCTACAACCA	0.428																																						ENST00000373830.3																			0				breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						c.(574-576)Agc>Ggc		tRNA selenocysteine 1 associated protein 1							182.0	151.0	162.0					1																	28897731		2203	4300	6503	SO:0001583	missense	54952				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:28897731A>G		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.574A>G	1.37:g.28897731A>G	ENSP00000362936:p.Ser192Gly						p.S192G	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN			7	600	+			192			Tyr-rich.		Q86SU7	Missense_Mutation	SNP	ENST00000373830.3	37	c.574A>G	CCDS324.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548994	0.45383	.	.	ENSG00000180098	ENST00000373830	T	0.23950	1.88	5.87	5.87	0.94306	.	0.317040	0.40818	N	0.001018	T	0.14141	0.0342	N	0.08118	0	0.30182	N	0.800318	B	0.16603	0.018	B	0.16722	0.016	T	0.11665	-1.0578	10	0.20519	T	0.43	.	13.6158	0.62108	1.0:0.0:0.0:0.0	.	192	Q9NX07	TSAP1_HUMAN	G	192	ENSP00000362936:S192G	ENSP00000362936:S192G	S	+	1	0	TRNAU1AP	28770318	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.552000	0.73914	2.240000	0.73641	0.533000	0.62120	AGC		0.428	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		28	37	0	0	0	1	0	28	37				
EXOSC9	5393	broad.mit.edu	37	4	122728757	122728757	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122728757T>C	ENST00000243498.5	+	6	693	c.585T>C	c.(583-585)agT>agC	p.S195S	EXOSC9_ENST00000512454.1_Silent_p.S179S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Silent_p.S195S	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	195	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TTTGTGTCAGTTTTGCCTTTT	0.368																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(535-537)agT>agC		exosome component 9							217.0	191.0	200.0					4																	122728757		2203	4300	6503	SO:0001819	synonymous_variant	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122728757T>C	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.585T>C	4.37:g.122728757T>C						EXOSC9_ENST00000379663.3_Silent_p.S195S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Silent_p.S195S	p.S179S			Q06265	EXOS9_HUMAN			5	753	+			195			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	ENST00000243498.5	37	c.537T>C	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699902	0.30142	.	.	ENSG00000123737	ENST00000511132	.	.	.	6.16	-3.87	0.04218	.	.	.	.	.	T	0.65739	0.2720	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66432	-0.5925	4	.	.	.	-29.8041	15.9335	0.79683	0.0:0.6014:0.0:0.3986	.	.	.	.	L	31	.	.	F	+	1	0	EXOSC9	122948207	0.990000	0.36364	0.975000	0.42487	0.997000	0.91878	0.234000	0.17930	-0.624000	0.05611	0.528000	0.53228	TTT		0.368	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		22	29	0	0	0	1	0	22	29				
KIF3A	11127	broad.mit.edu	37	5	132046653	132046653	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132046653C>T	ENST00000378746.4	-	9	1444	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R409K|KIF3A_ENST00000378735.1_Missense_Mutation_p.R409K	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	409				R -> RDQA (in Ref. 2; BAD93017). {ECO:0000305}.|R -> RDQT (in Ref. 4; AAH45542). {ECO:0000305}.|R -> RIQI (in Ref. 1; AAC72294). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAACTTACCCCTTCTTTTTTT	0.378																																						ENST00000378746.4																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1225-1227)aGg>aAg		kinesin family member 3A							136.0	143.0	141.0					5																	132046653		2203	4300	6503	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132046653C>T	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1226G>A	5.37:g.132046653C>T	ENSP00000368020:p.Arg409Lys					KIF3A_ENST00000403231.1_Missense_Mutation_p.R409K|KIF3A_ENST00000378735.1_Missense_Mutation_p.R409K|AC004237.1_ENST00000431165.1_RNA	p.R409K	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1444	-		all_cancers(142;0.0751)|Breast(839;0.198)	409	R -> RDQA (in Ref. 2; BAD93017).|R -> RDQT (in Ref. 4; AAH45542).|R -> RIQI (in Ref. 1; AAC72294).				A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1226G>A	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	5.471	0.271976	0.10349	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914	T;T;T	0.71222	-0.54;3.68;-0.55	4.84	3.02	0.34903	.	0.132065	0.64402	D	0.000003	T	0.49626	0.1568	N	0.19112	0.55	0.47308	D	0.999385	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.39461	-0.9613	10	0.06757	T	0.87	.	11.8098	0.52175	0.0:0.8435:0.0:0.1565	.	409;409;409;408	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	K	409;409;409;409;379	ENSP00000368020:R409K;ENSP00000368009:R409K;ENSP00000385808:R409K	ENSP00000368009:R409K	R	-	2	0	KIF3A	132074552	1.000000	0.71417	0.999000	0.59377	0.581000	0.36288	3.307000	0.51888	1.150000	0.42419	-0.657000	0.03884	AGG		0.378	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		24	49	0	0	0	1	0	24	49				
OR7G2	390882	broad.mit.edu	37	19	9213578	9213578	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9213578G>T	ENST00000305456.2	-	1	404	c.405C>A	c.(403-405)ctC>ctA	p.L135L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TTGCTGCAAGGAGACAATTTT	0.507																																					Esophageal Squamous(67;143 1448 28637 40648)	ENST00000305456.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(403-405)ctC>ctA		olfactory receptor, family 7, subfamily G, member 2							101.0	94.0	96.0					19																	9213578		2203	4300	6503	SO:0001819	synonymous_variant	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213578G>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.405C>A	19.37:g.9213578G>T							p.L135L	NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN			1	404	-			114					Q6IFJ4|Q96RA0	Silent	SNP	ENST00000305456.2	37	c.405C>A	CCDS32897.1																																																																																				0.507	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			17	76	1	0	1.15088e-07	1	1.32965e-07	17	76				
GATA4	2626	broad.mit.edu	37	8	11614543	11614543	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:11614543C>T	ENST00000335135.4	+	6	1655	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	GATA4_ENST00000532059.1_Missense_Mutation_p.T367M|GATA4_ENST00000528712.1_Missense_Mutation_p.T160M	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	366					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T366K(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CCCATCAAGACGGAGCCTGGC	0.657																																						ENST00000335135.4																			1	Substitution - Missense(1)	p.T366K(1)	lung(1)	central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(1096-1098)aCg>aTg		GATA binding protein 4							95.0	76.0	82.0					8																	11614543		2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11614543C>T	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1097C>T	8.37:g.11614543C>T	ENSP00000334458:p.Thr366Met					GATA4_ENST00000528712.1_Missense_Mutation_p.T160M|GATA4_ENST00000532059.1_Missense_Mutation_p.T367M	p.T366M	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	6	1655	+	all_epithelial(15;0.0839)		366					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.1097C>T	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177598	0.78564	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99060	-5.38;-5.11;-4.86;-4.85	5.83	4.96	0.65561	.	0.075341	0.56097	D	0.000038	D	0.98498	0.9499	M	0.64997	1.995	0.53688	D	0.999972	D;D	0.71674	0.998;0.995	P;P	0.55161	0.77;0.764	D	0.98468	1.0599	10	0.72032	D	0.01	-25.7772	10.1429	0.42747	0.0:0.8494:0.0:0.1506	.	367;366	B7ZKZ4;P43694	.;GATA4_HUMAN	M	160;160;366;365;367	ENSP00000435043:T160M;ENSP00000435347:T160M;ENSP00000334458:T366M;ENSP00000435712:T367M	ENSP00000259090:T365M	T	+	2	0	GATA4	11651952	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.400000	0.52594	1.476000	0.48215	0.655000	0.94253	ACG		0.657	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		39	76	0	0	0	1	0	39	76				
MPP4	58538	broad.mit.edu	37	2	202510068	202510068	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202510068T>C	ENST00000409474.3	-	22	1986	c.1779A>G	c.(1777-1779)caA>caG	p.Q593Q	MPP4_ENST00000315506.7_Silent_p.Q549Q|TMEM237_ENST00000409444.2_5'Flank|MPP4_ENST00000359962.5_Silent_p.Q593Q|MPP4_ENST00000409143.1_Silent_p.Q535Q|MPP4_ENST00000396886.3_Silent_p.Q518Q|TMEM237_ENST00000409883.2_5'Flank|MPP4_ENST00000447335.2_Silent_p.Q586Q|MPP4_ENST00000428900.2_Silent_p.Q569Q|RNU6-651P_ENST00000411040.1_RNA	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	593	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						GATCAAAAAATTGGCCAAACT	0.418																																						ENST00000409474.3																			0				kidney(1)|lung(11)	12						c.(1777-1779)caA>caG		membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)							75.0	75.0	75.0					2																	202510068		1891	4136	6027	SO:0001819	synonymous_variant	58538					cytoplasm	protein binding	g.chr2:202510068T>C	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1779A>G	2.37:g.202510068T>C						MPP4_ENST00000428900.2_Silent_p.Q569Q|MPP4_ENST00000447335.2_Silent_p.Q586Q|MPP4_ENST00000315506.7_Silent_p.Q549Q|MPP4_ENST00000359962.5_Silent_p.Q593Q|MPP4_ENST00000396886.3_Silent_p.Q518Q|MPP4_ENST00000409143.1_Silent_p.Q535Q	p.Q593Q	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN			22	1986	-			593			Guanylate kinase-like.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Silent	SNP	ENST00000409474.3	37	c.1779A>G	CCDS46491.1																																																																																				0.418	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			19	30	0	0	0	1	0	19	30				
N6AMT1	29104	broad.mit.edu	37	21	30248814	30248814	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30248814C>A	ENST00000303775.5	-	6	564		c.e6-1		N6AMT1_ENST00000351429.3_Splice_Site	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)						positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						AAAATTTCTTCTAAAATAAAA	0.323																																						ENST00000303775.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						c.e6-1		N-6 adenine-specific DNA methyltransferase 1 (putative)							69.0	66.0	67.0					21																	30248814		2202	4300	6502	SO:0001630	splice_region_variant	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30248814C>A	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.539-1G>T	21.37:g.30248814C>A						N6AMT1_ENST00000351429.3_Splice_Site		NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN			6	564	-								Q96F73	Splice_Site	SNP	ENST00000303775.5	37		CCDS33526.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943867	0.53079	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7671	0.63002	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	N6AMT1	29170685	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	4.247000	0.58750	2.623000	0.88846	0.557000	0.71058	.		0.323	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240	Intron	13	15	1	0	0.00136819	1	0.00143372	13	15				
BBS7	55212	broad.mit.edu	37	4	122749316	122749316	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122749316G>T	ENST00000264499.4	-	18	2182	c.1999C>A	c.(1999-2001)Ctt>Att	p.L667I	BBS7_ENST00000506636.1_Missense_Mutation_p.L667I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	667					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTCTTTCAAGATGTGCAGGT	0.398									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1999-2001)Ctt>Att		Bardet-Biedl syndrome 7							222.0	220.0	221.0					4																	122749316		2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122749316G>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1999C>A	4.37:g.122749316G>T	ENSP00000264499:p.Leu667Ile					BBS7_ENST00000506636.1_Missense_Mutation_p.L667I	p.L667I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			18	2182	-			667					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.1999C>A	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553648	0.86231	.	.	ENSG00000138686	ENST00000264499;ENST00000507814;ENST00000506636	T;T;T	0.79141	-1.24;-1.24;-1.24	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.88031	2.925	0.58432	D	0.999999	D	0.69078	0.997	P	0.61874	0.895	D	0.88443	0.3043	10	0.38643	T	0.18	-16.2795	19.5165	0.95167	0.0:0.0:1.0:0.0	.	667	Q8IWZ6	BBS7_HUMAN	I	667;90;667	ENSP00000264499:L667I;ENSP00000423250:L90I;ENSP00000423626:L667I	ENSP00000264499:L667I	L	-	1	0	BBS7	122968766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.465000	0.73538	2.785000	0.95823	0.655000	0.94253	CTT		0.398	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			12	84	1	0	3.07112e-06	1	3.42433e-06	12	84				
GK	2710	broad.mit.edu	37	X	30709251	30709251	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30709251C>A	ENST00000378943.3	+	5	528	c.349C>A	c.(349-351)Cta>Ata	p.L117I	GK_ENST00000427190.1_5'UTR|GK_ENST00000378946.3_Missense_Mutation_p.L117I|GK_ENST00000378945.3_Missense_Mutation_p.L117I	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	117					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						GTGGCTTGATCTAAGAACCCA	0.289																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(349-351)Cta>Ata		glycerol kinase							53.0	56.0	55.0					X																	30709251		2199	4278	6477	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30709251C>A	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.349C>A	X.37:g.30709251C>A	ENSP00000368226:p.Leu117Ile					GK_ENST00000378945.3_Missense_Mutation_p.L117I|GK_ENST00000427190.1_5'UTR|GK_ENST00000378946.3_Missense_Mutation_p.L117I	p.L117I	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			5	528	+			117					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.349C>A	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061000	0.55432	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000425166	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	L	0.28458	0.855	0.80722	D	1	B;B;B	0.30361	0.125;0.125;0.277	B;B;P	0.44946	0.266;0.266;0.465	T	0.48937	-0.8990	10	0.13853	T	0.58	.	12.5567	0.56257	0.0:0.9226:0.0:0.0774	.	117;117;117	P32189-2;P32189-1;A6NJP5	.;.;.	I	117;117;117;117;36	ENSP00000368229:L117I;ENSP00000368226:L117I;ENSP00000368228:L117I;ENSP00000404682:L36I	ENSP00000368226:L117I	L	+	1	2	GK	30619172	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.223000	0.65283	2.482000	0.83794	0.600000	0.82982	CTA		0.289	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		20	45	1	0	9.62636e-23	1	1.34149e-22	20	45				
KIT	3815	broad.mit.edu	37	4	55594177	55594177	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55594177C>T	ENST00000288135.5	+	13	1977	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	627	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P627L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAATTTTAGCGAGTGCCCAT	0.433		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		1	Substitution - Missense(1)	p.P627L(1)	soft_tissue(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.e13-1		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						145.0	134.0	137.0					4																	55594177		2203	4300	6503	SO:0001630	splice_region_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55594177C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1880-1C>T	4.37:g.55594177C>T							p.P627_splice	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	13	1977	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		627			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Splice_Site	SNP	ENST00000288135.5	37	c.1879_splice	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903525	0.72754	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82711	-1.64;-1.64	6.06	5.22	0.72569	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	D	0.82314	0.5010	N	0.13327	0.33	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	P;P;D	0.66084	0.818;0.898;0.941	T	0.81947	-0.0700	9	.	.	.	.	15.2169	0.73274	0.0:0.933:0.0:0.067	.	134;623;627	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	L	627;623	ENSP00000288135:P627L;ENSP00000390987:P623L	.	P	+	2	0	KIT	55288934	1.000000	0.71417	0.997000	0.53966	0.170000	0.22686	7.743000	0.85020	1.576000	0.49790	0.655000	0.94253	CCG		0.433	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		Missense_Mutation	23	48	0	0	0	1	0	23	48				
CENPJ	55835	broad.mit.edu	37	13	25458144	25458144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25458144C>A	ENST00000381884.4	-	16	3966	c.3781G>T	c.(3781-3783)Gaa>Taa	p.E1261*	CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'Flank	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1261					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ATGCTTTCTTCTTGTCCATCA	0.373																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3781-3783)Gaa>Taa		centromere protein J							184.0	172.0	176.0					13																	25458144		2203	4300	6503	SO:0001587	stop_gained	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25458144C>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3781G>T	13.37:g.25458144C>A	ENSP00000371308:p.Glu1261*					CENPJ_ENST00000545981.1_3'UTR	p.E1261*	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	16	3966	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1261					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Nonsense_Mutation	SNP	ENST00000381884.4	37	c.3781G>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	44	10.554878	0.99427	.	.	ENSG00000151849	ENST00000381884	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1152	0.93336	0.0:1.0:0.0:0.0	.	.	.	.	X	1261	.	ENSP00000371308:E1261X	E	-	1	0	CENPJ	24356144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.361000	0.59461	2.815000	0.96918	0.561000	0.74099	GAA		0.373	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		24	53	1	0	6.12954e-19	1	8.32119e-19	24	53				
KIF26B	55083	broad.mit.edu	37	1	245849741	245849741	+	Silent	SNP	C	C	T	rs146698496	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:245849741C>T	ENST00000407071.2	+	12	3896	c.3456C>T	c.(3454-3456)gtC>gtT	p.V1152V	KIF26B_ENST00000366518.4_Silent_p.V771V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1152					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAACTCCTGTCGATGATGAGC	0.587													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19189	0.0		0.0	False		,,,				2504	0.0					ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2311-2313)gtC>gtT		kinesin family member 26B		C		10,4250		0,10,2120	60.0	70.0	67.0		3456	-11.5	0.0	1	dbSNP_134	67	0,8454		0,0,4227	no	coding-synonymous	KIF26B	NM_018012.3		0,10,6347	TT,TC,CC		0.0,0.2347,0.0787		1152/2109	245849741	10,12704	2130	4227	6357	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849741C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3456C>T	1.37:g.245849741C>T						KIF26B_ENST00000407071.2_Silent_p.V1152V	p.V771V			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2417	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1152					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2313C>T	CCDS44342.1																																																																																				0.587	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		34	70	0	0	0	1	0	34	70				
HMGB3	3149	broad.mit.edu	37	X	150154631	150154631	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:150154631G>A	ENST00000325307.7	+	3	354	c.258G>A	c.(256-258)aaG>aaA	p.K86K	HMGB3_ENST00000448905.2_Silent_p.K86K	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	86					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCAAGAAGAAGAAGGATC	0.408																																						ENST00000325307.7																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(256-258)aaG>aaA		high mobility group box 3							41.0	35.0	37.0					X																	150154631		2203	4300	6503	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150154631G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.258G>A	X.37:g.150154631G>A						HMGB3_ENST00000448905.2_Silent_p.K86K	p.K86K	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			3	354	+	Acute lymphoblastic leukemia(192;6.56e-05)		86					O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.258G>A	CCDS35428.1																																																																																				0.408	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		11	26	0	0	0	1	0	11	26				
STAB2	55576	broad.mit.edu	37	12	104122665	104122665	+	Silent	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104122665T>A	ENST00000388887.2	+	48	5178	c.4974T>A	c.(4972-4974)gtT>gtA	p.V1658V		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCCCCAGGTTCTTCGGTACC	0.488																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4972-4974)gtT>gtA		stabilin 2							138.0	128.0	131.0					12																	104122665		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104122665T>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4974T>A	12.37:g.104122665T>A							p.V1658V	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			48	5178	+			1658			FAS1 5.			Silent	SNP	ENST00000388887.2	37	c.4974T>A	CCDS31888.1																																																																																				0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			9	100	0	0	0	1	0	9	100				
CD1C	911	broad.mit.edu	37	1	158263087	158263087	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158263087G>A	ENST00000368170.3	+	5	1254	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	325					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGTTTAAGAAGCACTGGTGAG	0.393																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(973-975)aaG>aaA		CD1c molecule							471.0	441.0	451.0					1																	158263087		2203	4300	6503	SO:0001819	synonymous_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158263087G>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.975G>A	1.37:g.158263087G>A							p.K325K	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			5	1254	+	all_hematologic(112;0.0378)		325					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	c.975G>A	CCDS1175.1																																																																																				0.393	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		18	85	0	0	0	1	0	18	85				
FST	10468	broad.mit.edu	37	5	52780019	52780019	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52780019T>C	ENST00000256759.3	+	4	1000	c.617T>C	c.(616-618)cTc>cCc	p.L206P	FST_ENST00000396947.3_Missense_Mutation_p.L206P	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	206	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GAGCAATATCTCTGTGGGAAT	0.522																																						ENST00000396947.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(616-618)cTc>cCc		follistatin							153.0	141.0	145.0					5																	52780019		2203	4300	6503	SO:0001583	missense	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52780019T>C	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.617T>C	5.37:g.52780019T>C	ENSP00000256759:p.Leu206Pro					FST_ENST00000256759.3_Missense_Mutation_p.L206P	p.L206P	NM_006350.3	NP_006341.1	P19883	FST_HUMAN			4	783	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	206			Kazal-like 2.		B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	c.617T>C	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494684	0.85069	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	T;T;T	0.04706	3.57;3.57;3.57	6.17	6.17	0.99709	Proteinase inhibitor I1, Kazal (2);	0.054942	0.85682	D	0.000000	T	0.28466	0.0704	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04976	-1.0914	10	0.87932	D	0	-11.5041	16.8222	0.85835	0.0:0.0:0.0:1.0	.	206	P19883	FST_HUMAN	P	206;206;206;78	ENSP00000256759:L206P;ENSP00000380151:L206P;ENSP00000426315:L78P	ENSP00000256759:L206P	L	+	2	0	FST	52815776	1.000000	0.71417	0.966000	0.40874	0.750000	0.42670	7.967000	0.87967	2.371000	0.80710	0.533000	0.62120	CTC		0.522	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		24	44	0	0	0	1	0	24	44				
ERMP1	79956	broad.mit.edu	37	9	5810024	5810024	+	Missense_Mutation	SNP	C	C	A	rs374389047		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5810024C>A	ENST00000339450.5	-	8	1624	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	ERMP1_ENST00000381506.3_Missense_Mutation_p.R288I|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.R90I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	512						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTAATAAAATCTTTTCGCAAG	0.368																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1534-1536)aGa>aTa		endoplasmic reticulum metallopeptidase 1		C	ILE/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	91.0	92.0		1535	3.9	1.0	9		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERMP1	NM_024896.2	97	0,2,6501	AA,AC,CC		0.0116,0.0227,0.0154	benign	512/905	5810024	2,13004	2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5810024C>A	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1535G>T	9.37:g.5810024C>A	ENSP00000340427:p.Arg512Ile					ERMP1_ENST00000543230.1_Missense_Mutation_p.R90I|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R288I	p.R512I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	8	1624	-		Acute lymphoblastic leukemia(23;0.158)	512					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1535G>T	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495733	0.44352	2.27E-4	1.16E-4	ENSG00000099219	ENST00000339450;ENST00000543230;ENST00000381506	T	0.48836	0.8	5.77	3.92	0.45320	.	0.209062	0.51477	D	0.000093	T	0.32255	0.0823	L	0.38175	1.15	0.48511	D	0.999663	B	0.22346	0.068	B	0.18263	0.021	T	0.16394	-1.0404	10	0.35671	T	0.21	-12.5744	4.9299	0.13912	0.0:0.4762:0.3066:0.2173	.	512	Q7Z2K6	ERMP1_HUMAN	I	512;90;288	ENSP00000340427:R512I	ENSP00000340427:R512I	R	-	2	0	ERMP1	5800024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.116000	0.41930	1.585000	0.49928	0.655000	0.94253	AGA		0.368	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		7	43	1	0	2.0095e-06	1	2.25447e-06	7	43				
PCF11	51585	broad.mit.edu	37	11	82872456	82872456	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82872456A>G	ENST00000298281.4	+	2	732	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	94	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TGCCTTTACTAAAAATCTAGT	0.313																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(280-282)Aaa>Gaa		PCF11 cleavage and polyadenylation factor subunit							80.0	76.0	77.0					11																	82872456		1809	4068	5877	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82872456A>G	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.280A>G	11.37:g.82872456A>G	ENSP00000298281:p.Lys94Glu						p.K94E	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			2	732	+			94			CID.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.280A>G	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020902	0.75275	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.44482	0.92;0.92;0.92	5.66	5.66	0.87406	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.000000	0.64402	D	0.000007	T	0.59662	0.2210	L	0.55213	1.73	0.58432	D	0.999997	P;D	0.71674	0.886;0.998	P;D	0.74023	0.841;0.982	T	0.57312	-0.7833	9	.	.	.	.	16.2026	0.82095	1.0:0.0:0.0:0.0	.	94;94	E9PQ01;O94913	.;PCF11_HUMAN	E	94	ENSP00000298281:K94E;ENSP00000434540:K94E;ENSP00000431567:K94E	.	K	+	1	0	PCF11	82550104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.219000	0.78000	2.285000	0.76669	0.533000	0.62120	AAA		0.313	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		7	17	0	0	0	1	0	7	17				
STAB2	55576	broad.mit.edu	37	12	104134518	104134518	+	Silent	SNP	C	C	T	rs151219602	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104134518C>T	ENST00000388887.2	+	55	6069	c.5865C>T	c.(5863-5865)ttC>ttT	p.F1955F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGGCTACTTCGGGCGAGACT	0.547													C|||	11	0.00219649	0.0	0.0	5008	,	,		18449	0.0		0.0	False		,,,				2504	0.0112					ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5863-5865)ttC>ttT		stabilin 2		C		1,4405	2.1+/-5.4	0,1,2202	109.0	97.0	101.0		5865	-0.2	0.1	12	dbSNP_134	101	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	STAB2	NM_017564.9		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		1955/2552	104134518	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104134518C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5865C>T	12.37:g.104134518C>T							p.F1955F	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			55	6069	+			1955						Silent	SNP	ENST00000388887.2	37	c.5865C>T	CCDS31888.1																																																																																				0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			16	85	0	0	0	1	0	16	85				
NPY5R	4889	broad.mit.edu	37	4	164272343	164272343	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:164272343G>T	ENST00000515560.1	+	4	2440	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NPY5R_ENST00000338566.3_Missense_Mutation_p.E306D|NPY5R_ENST00000506953.1_Missense_Mutation_p.E306D			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	306					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTTCTCAAGAGAACCACTCCA	0.418																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(916-918)gaG>gaT		neuropeptide Y receptor Y5							83.0	86.0	85.0					4																	164272343		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272343G>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.918G>T	4.37:g.164272343G>T	ENSP00000423917:p.Glu306Asp					NPY5R_ENST00000506953.1_Missense_Mutation_p.E306D|NPY5R_ENST00000338566.3_Missense_Mutation_p.E306D	p.E306D			Q15761	NPY5R_HUMAN			4	2440	+	all_hematologic(180;0.166)	Prostate(90;0.109)	306					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.918G>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.213230	0.01555	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.72394	-0.65;-0.65;-0.65	4.49	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.570273	0.14136	N	0.339072	T	0.45498	0.1345	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16276	-1.0408	10	0.21540	T	0.41	.	0.8595	0.01190	0.2452:0.2288:0.3524:0.1737	.	306	Q15761	NPY5R_HUMAN	D	306	ENSP00000339377:E306D;ENSP00000423917:E306D;ENSP00000423474:E306D	ENSP00000339377:E306D	E	+	3	2	NPY5R	164491793	0.520000	0.26250	0.038000	0.18304	0.231000	0.25187	0.642000	0.24735	-0.044000	0.13491	0.467000	0.42956	GAG		0.418	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		16	40	1	0	0.000422831	1	0.000449533	16	40				
IL12RB1	3594	broad.mit.edu	37	19	18170414	18170414	+	3'UTR	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:18170414A>G	ENST00000600835.2	-	0	2291				IL12RB1_ENST00000593993.2_3'UTR			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1						cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						ctgagcctcaacgatcacatc	0.527																																						ENST00000593993.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(1978-1980)cgT>cgC		interleukin 12 receptor, beta 1							117.0	122.0	121.0					19																	18170414		2058	4196	6254	SO:0001624	3_prime_UTR_variant	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18170414A>G	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.*4T>C	19.37:g.18170414A>G						IL12RB1_ENST00000600835.1_3'UTR|IL12RB1_ENST00000430026.2_3'UTR	p.R660R			P42701	I12R1_HUMAN			17	2145	-			0					A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.1980T>C	CCDS54232.1																																																																																				0.527	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			11	17	0	0	0	1	0	11	17				
CFAP46	54777	broad.mit.edu	37	10	134623991	134623991	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:134623991G>A	ENST00000368586.5	-	57	7686	c.7586C>T	c.(7585-7587)tCt>tTt	p.S2529F	TTC40_ENST00000263170.5_Missense_Mutation_p.S690F	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACGGCCAACAGATCTAGGGGA	0.622																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(7585-7587)tCt>tTt		tetratricopeptide repeat domain 40							69.0	57.0	61.0					10																	134623991		2203	4300	6503	SO:0001583	missense	54777							g.chr10:134623991G>A																												ENST00000368586.5:c.7586C>T	10.37:g.134623991G>A	ENSP00000357575:p.Ser2529Phe					TTC40_ENST00000263170.5_Missense_Mutation_p.S690F	p.S2529F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			57	7686	-			690						Missense_Mutation	SNP	ENST00000368586.5	37	c.7586C>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964559	0.34659	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.13657	2.82;2.57	2.98	0.988	0.19796	.	1.445260	0.04798	N	0.432965	T	0.13114	0.0318	L	0.43152	1.355	0.58432	D	0.999999	P	0.45634	0.863	B	0.41764	0.366	T	0.28299	-1.0048	10	0.56958	D	0.05	.	2.7828	0.05365	0.2502:0.0:0.5267:0.2232	.	690	Q8IYW2	CJ092_HUMAN	F	2529;690	ENSP00000357575:S2529F;ENSP00000263170:S690F	ENSP00000263170:S690F	S	-	2	0	C10orf93	134473981	0.421000	0.25465	0.379000	0.26080	0.029000	0.11900	0.276000	0.18716	0.278000	0.22164	-0.293000	0.09583	TCT		0.622	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			24	63	0	0	0	1	0	24	63				
CCPG1	9236	broad.mit.edu	37	15	55652205	55652205	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55652205T>C	ENST00000310958.6	-	8	2064	c.1766A>G	c.(1765-1767)cAa>cGa	p.Q589R	CCPG1_ENST00000442196.3_Missense_Mutation_p.Q589R|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.Q589R|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	589					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TCCATCATTTTGCATAGTAGG	0.348																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1765-1767)cAa>cGa		cell cycle progression 1							132.0	124.0	126.0					15																	55652205		1800	4062	5862	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55652205T>C	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1766A>G	15.37:g.55652205T>C	ENSP00000311656:p.Gln589Arg					CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.Q589R|CCPG1_ENST00000442196.3_Missense_Mutation_p.Q589R|DYX1C1-CCPG1_ENST00000565113.1_RNA	p.Q589R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2064	-			589					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.1766A>G	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	T	2.802	-0.248950	0.05867	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.03607	3.87;3.87	5.45	3.15	0.36227	.	1.146320	0.06181	N	0.679420	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.46762	-0.9168	10	0.07990	T	0.79	.	6.5147	0.22242	0.0:0.1069:0.2352:0.658	.	589;589;445	A8K9T0;Q9ULG6;Q9ULG6-2	.;CCPG1_HUMAN;.	R	589	ENSP00000311656:Q589R;ENSP00000403400:Q589R	ENSP00000311656:Q589R	Q	-	2	0	DYX1C1	53439497	0.027000	0.19231	0.004000	0.12327	0.369000	0.29798	0.759000	0.26461	0.908000	0.36671	0.533000	0.62120	CAA		0.348	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		35	62	0	0	0	1	0	35	62				
CPVL	54504	broad.mit.edu	37	7	29111954	29111954	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:29111954C>T	ENST00000409850.1	-	12	1341	c.695G>A	c.(694-696)gGa>gAa	p.G232E	CPVL_ENST00000265394.5_Missense_Mutation_p.G232E|CPVL_ENST00000396276.3_Missense_Mutation_p.G232E			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	232						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AATAGCAATTCCGTTCAGGTT	0.433																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(694-696)gGa>gAa		carboxypeptidase, vitellogenic-like							152.0	128.0	136.0					7																	29111954		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29111954C>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.695G>A	7.37:g.29111954C>T	ENSP00000387164:p.Gly232Glu					CPVL_ENST00000396276.3_Missense_Mutation_p.G232E|CPVL_ENST00000265394.5_Missense_Mutation_p.G232E	p.G232E			Q9H3G5	CPVL_HUMAN			12	1341	-			232					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.695G>A	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395862	0.83011	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99529	1.0960	10	0.87932	D	0	5.0E-4	17.5741	0.87943	0.0:1.0:0.0:0.0	.	232	Q9H3G5	CPVL_HUMAN	E	232;232;232;116;162	ENSP00000265394:G232E;ENSP00000379572:G232E;ENSP00000387164:G232E;ENSP00000409036:G162E	ENSP00000265394:G232E	G	-	2	0	CPVL	29078479	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	5.395000	0.66291	2.513000	0.84729	0.591000	0.81541	GGA		0.433	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		20	35	0	0	0	1	0	20	35				
SH2D4A	63898	broad.mit.edu	37	8	19250883	19250883	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19250883G>A	ENST00000265807.3	+	9	1514	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	SH2D4A_ENST00000519207.1_Missense_Mutation_p.G368D|SH2D4A_ENST00000518040.1_Missense_Mutation_p.G323D	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	368	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGCATGCCCGGCAGTTTTCTC	0.473																																						ENST00000265807.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(1102-1104)gGc>gAc		SH2 domain containing 4A							123.0	120.0	121.0					8																	19250883		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19250883G>A	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1103G>A	8.37:g.19250883G>A	ENSP00000265807:p.Gly368Asp					SH2D4A_ENST00000519207.1_Missense_Mutation_p.G368D|SH2D4A_ENST00000518040.1_Missense_Mutation_p.G323D	p.G368D	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	9	1514	+			368			SH2.		B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.1103G>A	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539918	0.65085	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	D;D;D	0.91351	-2.83;-2.83;-2.83	5.89	5.89	0.94794	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98243	1.0489	10	0.87932	D	0	.	18.8248	0.92114	0.0:0.0:1.0:0.0	.	323;368	B4DDR1;Q9H788	.;SH24A_HUMAN	D	368;323;368	ENSP00000265807:G368D;ENSP00000429482:G323D;ENSP00000428684:G368D	ENSP00000265807:G368D	G	+	2	0	SH2D4A	19295163	1.000000	0.71417	0.991000	0.47740	0.029000	0.11900	8.241000	0.89816	2.790000	0.95986	0.637000	0.83480	GGC		0.473	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		5	88	0	0	0	1	0	5	88				
TRIM55	84675	broad.mit.edu	37	8	67064644	67064644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67064644G>T	ENST00000315962.4	+	8	1391	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	TRIM55_ENST00000353317.5_Nonsense_Mutation_p.E340*|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Nonsense_Mutation_p.E340*	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	340					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			agaaggcggagaaggagaaaa	0.418																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(1018-1020)Gaa>Taa		tripartite motif containing 55							34.0	32.0	33.0					8																	67064644		2203	4300	6503	SO:0001587	stop_gained	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67064644G>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1018G>T	8.37:g.67064644G>T	ENSP00000323913:p.Glu340*					TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.E340*|TRIM55_ENST00000276573.7_Nonsense_Mutation_p.E340*	p.E340*	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		8	1391	+		Lung NSC(129;0.138)|all_lung(136;0.221)	340					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Nonsense_Mutation	SNP	ENST00000315962.4	37	c.1018G>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040407	0.75732	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	.	.	.	2.36	2.36	0.29203	.	0.651463	0.16604	N	0.207186	.	.	.	.	.	.	0.23056	N	0.998367	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	8.3958	0.32557	0.0:0.0:1.0:0.0	.	.	.	.	X	340	.	ENSP00000276573:E340X	E	+	1	0	TRIM55	67227198	0.530000	0.26330	0.051000	0.19133	0.223000	0.24884	1.523000	0.35932	1.698000	0.51180	0.650000	0.86243	GAA		0.418	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		9	11	1	0	0.000274275	1	0.000292037	9	11				
SASS6	163786	broad.mit.edu	37	1	100575956	100575956	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:100575956T>C	ENST00000287482.5	-	8	893	c.753A>G	c.(751-753)caA>caG	p.Q251Q	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.Q84Q	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	251					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ACAGTCTGTTTTGTAGCTGGT	0.353																																						ENST00000287482.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(751-753)caA>caG		spindle assembly 6 homolog (C. elegans)							156.0	147.0	150.0					1																	100575956		2203	4300	6503	SO:0001819	synonymous_variant	163786				centriole replication	centriole		g.chr1:100575956T>C	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.753A>G	1.37:g.100575956T>C						SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.Q84Q	p.Q251Q	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	8	893	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	251					D3DT55|Q8N3K0	Silent	SNP	ENST00000287482.5	37	c.753A>G	CCDS764.1																																																																																				0.353	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		4	48	0	0	0	1	0	4	48				
SIPA1L2	57568	broad.mit.edu	37	1	232649870	232649870	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:232649870C>T	ENST00000366630.1	-	2	1574	c.1216G>A	c.(1216-1218)Gtc>Atc	p.V406I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V406I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	406					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAACTAAGGACGAGGTCGTTA	0.527																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1216-1218)Gtc>Atc		signal-induced proliferation-associated 1 like 2							175.0	167.0	170.0					1																	232649870		1960	4151	6111	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649870C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1216G>A	1.37:g.232649870C>T	ENSP00000355589:p.Val406Ile					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V406I	p.V406I			Q9P2F8	SI1L2_HUMAN			2	1574	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	406					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1216G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126551	0.56721	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.81659	-1.52;-1.52	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87034	0.6077	M	0.77616	2.38	0.54753	D	0.999986	D	0.60160	0.987	P	0.52514	0.701	D	0.88407	0.3019	10	0.72032	D	0.01	-36.8841	19.3561	0.94414	0.0:1.0:0.0:0.0	.	406	Q9P2F8	SI1L2_HUMAN	I	406	ENSP00000355589:V406I;ENSP00000262861:V406I	ENSP00000262861:V406I	V	-	1	0	SIPA1L2	230716493	1.000000	0.71417	0.965000	0.40720	0.668000	0.39293	4.736000	0.62059	2.810000	0.96702	0.650000	0.86243	GTC		0.527	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		58	130	0	0	0	1	0	58	130				
SLC6A14	11254	broad.mit.edu	37	X	115574871	115574871	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:115574871A>C	ENST00000371900.4	+	5	657	c.569A>C	c.(568-570)aAa>aCa	p.K190T		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	190					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAAATGAATAAAAGCTGGGTA	0.363																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(568-570)aAa>aCa		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						92.0	81.0	85.0					X																	115574871		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115574871A>C	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.569A>C	X.37:g.115574871A>C	ENSP00000360967:p.Lys190Thr						p.K190T	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			5	657	+			190					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.569A>C	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	A	5.445	0.267268	0.10294	.	.	ENSG00000087916	ENST00000371900	T	0.73575	-0.76	5.63	1.89	0.25635	.	1.813730	0.02446	N	0.085119	T	0.54271	0.1848	N	0.11064	0.09	0.21697	N	0.999586	B	0.13594	0.008	B	0.17979	0.02	T	0.38845	-0.9642	10	0.16896	T	0.51	.	3.272	0.06886	0.5867:0.0:0.2057:0.2076	.	190	Q9UN76	S6A14_HUMAN	T	190	ENSP00000360967:K190T	ENSP00000360967:K190T	K	+	2	0	SLC6A14	115488899	0.998000	0.40836	0.982000	0.44146	0.914000	0.54420	0.546000	0.23284	0.033000	0.15463	0.486000	0.48141	AAA		0.363	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			7	28	0	0	0	1	0	7	28				
ZFAND4	93550	broad.mit.edu	37	10	46122112	46122112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:46122112C>A	ENST00000344646.5	-	7	1374	c.1159G>T	c.(1159-1161)Gaa>Taa	p.E387*	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Nonsense_Mutation_p.E313*|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	387							zinc ion binding (GO:0008270)										GTTACACATTCTTCTGAAGGT	0.438																																						ENST00000374366.3																			0											c.(937-939)Gaa>Taa		zinc finger, AN1-type domain 4							109.0	103.0	105.0					10																	46122112		2203	4300	6503	SO:0001587	stop_gained	93550						zinc ion binding	g.chr10:46122112C>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1159G>T	10.37:g.46122112C>A	ENSP00000339484:p.Glu387*					ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000344646.5_Nonsense_Mutation_p.E387*	p.E313*			Q86XD8	ANUB1_HUMAN			8	1402	-			387					A8K8V4|B2RAX2|Q5VVY5	Nonsense_Mutation	SNP	ENST00000344646.5	37	c.937G>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917616	0.52546	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	.	.	.	5.61	-0.886	0.10590	.	10.162600	0.00541	N	0.000234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-6.3314	3.1051	0.06339	0.1878:0.1851:0.4661:0.1609	.	.	.	.	X	387;313;269	.	ENSP00000339484:E387X	E	-	1	0	ANUBL1	45442118	0.024000	0.19004	0.000000	0.03702	0.008000	0.06430	1.053000	0.30442	-0.164000	0.10927	-0.882000	0.02950	GAA		0.438	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		33	57	1	0	1.74807e-11	1	2.17561e-11	33	57				
RALGPS2	55103	broad.mit.edu	37	1	178875917	178875917	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178875917C>T	ENST00000367635.3	+	19	1975	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	546	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S546L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTAGGAAATTCGTACAAGTTT	0.333																																						ENST00000367635.3																			1	Substitution - Missense(1)	p.S546L(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1636-1638)tCg>tTg		Ral GEF with PH domain and SH3 binding motif 2							82.0	81.0	81.0					1																	178875917		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178875917C>T	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1637C>T	1.37:g.178875917C>T	ENSP00000356607:p.Ser546Leu					RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L|RALGPS2_ENST00000324778.4_Missense_Mutation_p.S511L	p.S546L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			19	1975	+			546			PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1637C>T	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157374|4.157374	0.78114|0.78114	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367632|ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	.|T;T;T	.|0.79352	.|-1.26;-1.26;-1.26	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.069958	.|0.64402	.|D	.|0.000015	T|T	0.74245|0.74245	0.3691|0.3691	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24132	.|0.049;0.098	.|B;B	.|0.26517	.|0.02;0.07	T|T	0.67421|0.67421	-0.5675|-0.5675	5|10	.|0.41790	.|T	.|0.15	.|.	20.2585|20.2585	0.98435|0.98435	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|520;546	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	C|L	137|546;520;511;195	.|ENSP00000356607:S546L;ENSP00000356606:S520L;ENSP00000313613:S511L	.|ENSP00000313613:S511L	R|S	+|+	1|2	0|0	RALGPS2|RALGPS2	177142540|177142540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.276000|7.276000	0.78559|0.78559	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.333	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		12	22	0	0	0	1	0	12	22				
DNAJC13	23317	broad.mit.edu	37	3	132218600	132218600	+	Missense_Mutation	SNP	G	G	A	rs367802425		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132218600G>A	ENST00000260818.6	+	38	4612	c.4364G>A	c.(4363-4365)cGc>cAc	p.R1455H		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1455					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCATTTAGTCGCTGTGTGGCT	0.418																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(4363-4365)cGc>cAc		DnaJ (Hsp40) homolog, subfamily C, member 13							240.0	249.0	246.0					3																	132218600		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132218600G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4364G>A	3.37:g.132218600G>A	ENSP00000260818:p.Arg1455His						p.R1455H	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			38	4612	+			1455					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4364G>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264484	0.95399	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.24908	1.83	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66329	-0.5951	10	0.72032	D	0.01	.	19.0644	0.93104	0.0:0.0:1.0:0.0	.	1455	O75165	DJC13_HUMAN	H	1455;102	ENSP00000260818:R1455H	ENSP00000260818:R1455H	R	+	2	0	DNAJC13	133701290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.200000	0.95010	2.570000	0.86706	0.555000	0.69702	CGC		0.418	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		44	121	0	0	0	1	0	44	121				
RFC1	5981	broad.mit.edu	37	4	39313115	39313115	+	Missense_Mutation	SNP	G	G	A	rs367742770		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:39313115G>A	ENST00000381897.1	-	12	1571	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	RFC1_ENST00000349703.2_Missense_Mutation_p.R480W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	480	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCATAGTCCGAATCAGATTC	0.363																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1438-1440)Cgg>Tgg		replication factor C (activator 1) 1, 145kDa		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	112.0	115.0		1438,1438	3.9	1.0	4		115	0,8600		0,0,4300	no	missense,missense	RFC1	NM_001204747.1,NM_002913.4	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	480/1149,480/1148	39313115	1,13005	2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39313115G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1438C>T	4.37:g.39313115G>A	ENSP00000371321:p.Arg480Trp					RFC1_ENST00000349703.2_Missense_Mutation_p.R480W	p.R480W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			12	1571	-			480			BRCT.		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1438C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188567	0.78789	2.27E-4	0.0	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.45668	0.89;0.89;0.89	5.71	3.89	0.44902	BRCT (3);	0.055874	0.64402	D	0.000001	T	0.68412	0.2998	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.76380	-0.2980	10	0.87932	D	0	-1.6137	14.9305	0.70911	0.0:0.0:0.7398:0.2601	.	480;480	P35251;P35251-2	RFC1_HUMAN;.	W	480;480;112	ENSP00000371321:R480W;ENSP00000261424:R480W;ENSP00000422129:R112W	ENSP00000261424:R480W	R	-	1	2	RFC1	38989510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.392000	0.52537	1.385000	0.46445	0.655000	0.94253	CGG		0.363	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		15	19	0	0	0	1	0	15	19				
AMBN	258	broad.mit.edu	37	4	71472354	71472354	+	Silent	SNP	G	G	A	rs570826995		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:71472354G>A	ENST00000322937.6	+	13	1354	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	AMBN_ENST00000449493.2_Silent_p.T402T	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	417					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGGATACCACGATGGCCCCAA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19423	0.0		0.0	False		,,,				2504	0.0					ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(1249-1251)acG>acA		ameloblastin (enamel matrix protein)							61.0	65.0	64.0					4																	71472354		2203	4300	6503	SO:0001819	synonymous_variant	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472354G>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1251G>A	4.37:g.71472354G>A						AMBN_ENST00000449493.2_Silent_p.T402T	p.T417T	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1354	+			417					Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	ENST00000322937.6	37	c.1251G>A	CCDS3543.1																																																																																				0.512	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		38	70	0	0	0	1	0	38	70				
CDKL5	6792	broad.mit.edu	37	X	18626974	18626974	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18626974C>T	ENST00000379989.3	+	14	2273	c.1988C>T	c.(1987-1989)tCg>tTg	p.S663L	CDKL5_ENST00000379996.3_Missense_Mutation_p.S663L|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	663					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCAAGATCTTCGGTCAAAGAG	0.438																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1987-1989)tCg>tTg		cyclin-dependent kinase-like 5							78.0	68.0	72.0					X																	18626974		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18626974C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1988C>T	X.37:g.18626974C>T	ENSP00000369325:p.Ser663Leu					CDKL5_ENST00000379996.3_Missense_Mutation_p.S663L|CDKL5_ENST00000463994.1_3'UTR	p.S663L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			14	2273	+	Hepatocellular(33;0.183)		663					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1988C>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	c	9.198	1.027716	0.19512	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71341	-0.56;-0.56	5.81	4.93	0.64822	.	0.379540	0.31784	N	0.007068	T	0.42675	0.1213	N	0.04508	-0.205	0.21579	N	0.999634	B	0.10296	0.003	B	0.04013	0.001	T	0.24799	-1.0150	10	0.10636	T	0.68	-15.8436	7.646	0.28321	0.1654:0.7506:0.0:0.084	.	663	O76039	CDKL5_HUMAN	L	663	ENSP00000369332:S663L;ENSP00000369325:S663L	ENSP00000369325:S663L	S	+	2	0	CDKL5	18536895	0.981000	0.34729	0.114000	0.21550	0.303000	0.27691	2.517000	0.45529	1.184000	0.42957	0.519000	0.50382	TCG		0.438	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		4	41	0	0	0	1	0	4	41				
NEXN	91624	broad.mit.edu	37	1	78401572	78401572	+	Missense_Mutation	SNP	G	G	T	rs200002561		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78401572G>T	ENST00000334785.7	+	11	1500	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.R425M|NEXN_ENST00000330010.8_Missense_Mutation_p.R375M	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAAAAAGGAGTGGCTCT	0.313																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1123-1125)aGg>aTg		nexilin (F actin binding protein)							49.0	49.0	49.0					1																	78401572		1797	4058	5855	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78401572G>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1316G>T	1.37:g.78401572G>T	ENSP00000333938:p.Arg439Met					NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.R425M|NEXN_ENST00000334785.7_Missense_Mutation_p.R439M	p.R375M	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	10	1421	+			439			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.1124G>T	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.869359|4.869359	0.91587|0.91587	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	.|T;T;T;T	.|0.78364	.|-0.34;-0.34;-0.03;-1.17	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.64402	.|D	.|0.000018	.|D	.|0.86686	.|0.5992	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.991;0.979;0.999	.|D	.|0.84835	.|0.0804	.|10	.|0.51188	.|T	.|0.08	-14.9207|-14.9207	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|375;425;439;375	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	X|M	339|425;375;439;425	.|ENSP00000388048:R425M;ENSP00000327363:R375M;ENSP00000333938:R439M;ENSP00000411902:R425M	.|ENSP00000327363:R375M	G|R	+|+	1|2	0|0	NEXN|NEXN	78174160|78174160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.909000|7.909000	0.87444|0.87444	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.313	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		13	19	1	0	7.03913e-09	1	8.36985e-09	13	19				
TAF1B	9014	broad.mit.edu	37	2	10050892	10050892	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10050892T>C	ENST00000263663.5	+	10	1171	c.983T>C	c.(982-984)gTg>gCg	p.V328A	TAF1B_ENST00000396242.3_Missense_Mutation_p.V73A	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	328	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTTGCCACGTGGTAAAAATG	0.343																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(982-984)gTg>gCg		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							127.0	115.0	119.0					2																	10050892		2203	4300	6503	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10050892T>C	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.983T>C	2.37:g.10050892T>C	ENSP00000263663:p.Val328Ala					TAF1B_ENST00000396242.3_Missense_Mutation_p.V73A	p.V328A	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			10	1171	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		328					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.983T>C	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579803	0.65992	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.03689	3.84;3.84	5.8	5.8	0.92144	.	0.263632	0.36778	N	0.002401	T	0.14013	0.0339	M	0.69823	2.125	0.45056	D	0.998072	D;D	0.61697	0.982;0.99	P;P	0.57371	0.664;0.819	T	0.00466	-1.1722	9	.	.	.	-19.5074	16.1464	0.81575	0.0:0.0:0.0:1.0	.	328;328	Q53T94;Q53T94-2	TAF1B_HUMAN;.	A	328;73	ENSP00000263663:V328A;ENSP00000379542:V73A	.	V	+	2	0	TAF1B	9968343	1.000000	0.71417	0.750000	0.31169	0.444000	0.32077	5.529000	0.67135	2.220000	0.72140	0.383000	0.25322	GTG		0.343	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		4	53	0	0	0	1	0	4	53				
NDUFAF1	51103	broad.mit.edu	37	15	41680707	41680707	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:41680707T>C	ENST00000260361.4	-	4	1154	c.773A>G	c.(772-774)aAa>aGa	p.K258R		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	258					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		GAAGAAAAATTTGGAAAAAGG	0.343																																						ENST00000260361.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(772-774)aAa>aGa		NADH dehydrogenase (ubiquinone) complex I, assembly factor 1							51.0	54.0	53.0					15																	41680707		2203	4300	6503	SO:0001583	missense	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41680707T>C	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.773A>G	15.37:g.41680707T>C	ENSP00000260361:p.Lys258Arg						p.K258R	NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	4	1154	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	258					Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	c.773A>G	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289848	0.80914	.	.	ENSG00000137806	ENST00000260361	T	0.77489	-1.1	5.43	4.28	0.50868	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.85440	0.5697	M	0.68952	2.095	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.84958	0.0875	10	0.52906	T	0.07	.	11.6985	0.51556	0.1326:0.0:0.0:0.8674	.	258	Q9Y375	CIA30_HUMAN	R	258	ENSP00000260361:K258R	ENSP00000260361:K258R	K	-	2	0	NDUFAF1	39467999	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.523000	0.81856	0.875000	0.35847	0.455000	0.32223	AAA		0.343	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		11	26	0	0	0	1	0	11	26				
HCFC2	29915	broad.mit.edu	37	12	104492166	104492166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104492166C>T	ENST00000229330.4	+	13	1890	c.1786C>T	c.(1786-1788)Cga>Tga	p.R596*	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	596	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.R596*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGCGGGAGAACGACAATGGTG	0.358																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			1	Substitution - Nonsense(1)	p.R596*(1)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1786-1788)Cga>Tga		host cell factor C2							45.0	49.0	48.0					12																	104492166		2203	4300	6503	SO:0001587	stop_gained	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104492166C>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1786C>T	12.37:g.104492166C>T	ENSP00000229330:p.Arg596*					HCFC2_ENST00000550335.1_3'UTR	p.R596*	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			13	1890	+			596			Fibronectin type-III 2.		B2R8Q5|C0H5X3	Nonsense_Mutation	SNP	ENST00000229330.4	37	c.1786C>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	38	7.046705	0.98025	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.31	3.36	0.38483	.	0.470007	0.22155	N	0.063863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3476	13.0981	0.59204	0.4188:0.5812:0.0:0.0	.	.	.	.	X	596	.	ENSP00000229330:R596X	R	+	1	2	HCFC2	103016296	0.997000	0.39634	1.000000	0.80357	0.878000	0.50629	1.701000	0.37825	1.191000	0.43056	0.650000	0.86243	CGA		0.358	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		15	26	0	0	0	1	0	15	26				
ARHGAP11A	9824	broad.mit.edu	37	15	32929102	32929102	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32929102G>T	ENST00000361627.3	+	12	2850	c.2128G>T	c.(2128-2130)Gat>Tat	p.D710Y	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.D521Y|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.D521Y	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	710					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D710H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TATGCCAAAAGATTATTTAAG	0.284																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			1	Substitution - Missense(1)	p.D710H(1)	lung(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2128-2130)Gat>Tat		Rho GTPase activating protein 11A							28.0	31.0	30.0					15																	32929102		2198	4287	6485	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929102G>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2128G>T	15.37:g.32929102G>T	ENSP00000355090:p.Asp710Tyr					ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.D521Y|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.D521Y	p.D710Y	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2850	+		all_lung(180;1.3e-11)	710					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2128G>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.250264	0.39797	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.12361	2.69	4.97	4.05	0.47172	.	0.429406	0.21877	N	0.067797	T	0.28466	0.0704	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	P	0.60173	0.87	T	0.04017	-1.0984	10	0.72032	D	0.01	.	10.8558	0.46798	0.1527:0.0:0.8473:0.0	.	710	Q6P4F7	RHGBA_HUMAN	Y	710;521	ENSP00000355090:D710Y	ENSP00000355090:D710Y	D	+	1	0	ARHGAP11A	30716394	0.160000	0.22878	0.003000	0.11579	0.695000	0.40330	2.232000	0.43018	1.449000	0.47699	0.650000	0.86243	GAT		0.284	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		17	26	1	0	6.94344e-10	1	8.4399e-10	17	26				
ATF6	22926	broad.mit.edu	37	1	161882144	161882144	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:161882144T>G	ENST00000367942.3	+	15	1845	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	593					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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AAAATGTCAATTGTGTTACCA	0.328																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1777-1779)aTt>aGt		activating transcription factor 6							109.0	95.0	100.0					1																	161882144		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161882144T>G	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1778T>G	1.37:g.161882144T>G	ENSP00000356919:p.Ile593Ser						p.I593S	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		15	1845	+	all_hematologic(112;0.156)		593					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1778T>G	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035129	0.75617	.	.	ENSG00000118217	ENST00000367942	T	0.15487	2.42	5.1	5.1	0.69264	.	0.067264	0.64402	D	0.000015	T	0.15046	0.0363	L	0.36672	1.1	0.40523	D	0.980857	D	0.67145	0.996	P	0.54544	0.755	T	0.01977	-1.1236	9	0.87932	D	0	-19.9676	13.1419	0.59440	0.0:0.0:0.0:1.0	.	593	P18850	ATF6A_HUMAN	S	593	ENSP00000356919:I593S	ENSP00000356919:I593S	I	+	2	0	ATF6	160148768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.399000	0.66314	2.061000	0.61500	0.533000	0.62120	ATT		0.328	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		10	29	0	0	0	1	0	10	29				
SLC5A6	8884	broad.mit.edu	37	2	27430447	27430447	+	Missense_Mutation	SNP	G	G	T	rs572871112		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27430447G>T	ENST00000310574.3	-	3	545	c.72C>A	c.(70-72)ttC>ttA	p.F24L	SLC5A6_ENST00000408041.1_Missense_Mutation_p.F24L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	24					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CCATGATGGAGAAGGTAGACA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		22964	0.0		0.0	False		,,,				2504	0.001					ENST00000310574.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.(70-72)ttC>ttA		solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	Biotin(DB00121)|Lipoic Acid(DB00166)						171.0	136.0	147.0					2																	27430447		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27430447G>T	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.72C>A	2.37:g.27430447G>T	ENSP00000310208:p.Phe24Leu					SLC5A6_ENST00000408041.1_Missense_Mutation_p.F24L	p.F24L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN			3	545	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		24					B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.72C>A	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831473	0.71258	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463;ENST00000432106;ENST00000426119;ENST00000414408;ENST00000428518;ENST00000430186;ENST00000442731	T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	4.87	2.1	0.27182	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	M	0.72576	2.205	0.58432	D	0.999999	P	0.40250	0.709	B	0.38500	0.275	T	0.01966	-1.1238	10	0.52906	T	0.07	.	7.7941	0.29138	0.28:0.0:0.72:0.0	.	24	Q9Y289	SC5A6_HUMAN	L	24	ENSP00000310208:F24L;ENSP00000384853:F24L;ENSP00000403851:F24L;ENSP00000384265:F24L;ENSP00000411536:F24L;ENSP00000401347:F24L;ENSP00000404032:F24L;ENSP00000402903:F24L	ENSP00000310208:F24L	F	-	3	2	SLC5A6	27283951	1.000000	0.71417	0.754000	0.31244	0.008000	0.06430	5.329000	0.65892	0.262000	0.21774	-0.253000	0.11424	TTC		0.567	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		20	48	1	0	3.51602e-12	1	4.42195e-12	20	48				
ESF1	51575	broad.mit.edu	37	20	13755837	13755837	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13755837A>C	ENST00000202816.1	-	4	1222	c.1115T>G	c.(1114-1116)tTt>tGt	p.F372C		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTGGGTTTAAATGAATTGAA	0.308																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(1114-1116)tTt>tGt		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							117.0	120.0	119.0					20																	13755837		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13755837A>C		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1115T>G	20.37:g.13755837A>C	ENSP00000202816:p.Phe372Cys						p.F372C	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			4	1222	-			372					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.1115T>G	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	a	23.2	4.389382	0.82902	.	.	ENSG00000089048	ENST00000202816	T	0.78246	-1.16	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90070	0.4162	10	0.66056	D	0.02	0.8438	15.5641	0.76277	1.0:0.0:0.0:0.0	.	372	Q9H501	ESF1_HUMAN	C	372	ENSP00000202816:F372C	ENSP00000202816:F372C	F	-	2	0	ESF1	13703837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.333000	0.96459	2.224000	0.72417	0.520000	0.50463	TTT		0.308	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		35	61	0	0	0	1	0	35	61				
ABCB11	8647	broad.mit.edu	37	2	169828434	169828434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:169828434C>A	ENST00000263817.6	-	14	1685	c.1561G>T	c.(1561-1563)Gaa>Taa	p.E521*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	521	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GTTGCATCTTCTCTGCCATAG	0.473																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(1561-1563)Gaa>Taa		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						137.0	137.0	137.0					2																	169828434		1973	4150	6123	SO:0001587	stop_gained	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169828434C>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1561G>T	2.37:g.169828434C>A	ENSP00000263817:p.Glu521*						p.E521*	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			14	1685	-			521			ABC transporter 1.		Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	ENST00000263817.6	37	c.1561G>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	36	5.969449	0.97156	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.83	2.11	0.27256	.	0.264207	0.44285	D	0.000461	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	11.1162	0.48262	0.0:0.7702:0.0:0.2298	.	.	.	.	X	521	.	ENSP00000263817:E521X	E	-	1	0	ABCB11	169536680	0.998000	0.40836	0.973000	0.42090	0.989000	0.77384	2.234000	0.43035	0.110000	0.17919	0.650000	0.86243	GAA		0.473	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		16	41	1	0	6.31663e-08	1	7.35827e-08	16	41				
DNAH7	56171	broad.mit.edu	37	2	196912086	196912086	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196912086T>C	ENST00000312428.6	-	5	488	c.388A>G	c.(388-390)Aat>Gat	p.N130D	DNAH7_ENST00000410072.1_Missense_Mutation_p.N130D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	130	Stem. {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						ATAATGACATTAACAAGAGTA	0.378																																						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.(388-390)Aat>Gat		dynein, axonemal, heavy chain 7							146.0	140.0	142.0					2																	196912086		1850	4089	5939	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196912086T>C	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.388A>G	2.37:g.196912086T>C	ENSP00000311273:p.Asn130Asp					DNAH7_ENST00000410072.1_Missense_Mutation_p.N130D	p.N130D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			5	488	-			130			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.388A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	7.885	0.731124	0.15507	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	T;T	0.21932	1.98;2.81	5.2	5.2	0.72013	.	0.270585	0.34777	N	0.003686	T	0.13884	0.0336	L	0.29908	0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.24512	-1.0158	10	0.09843	T	0.71	.	11.3876	0.49796	0.0:0.0:0.0:1.0	.	130	Q8WXX0	DYH7_HUMAN	D	130;130;130;105	ENSP00000311273:N130D;ENSP00000386260:N130D	ENSP00000311273:N130D	N	-	1	0	DNAH7	196620331	0.926000	0.31397	0.132000	0.22025	0.024000	0.10985	3.701000	0.54793	2.179000	0.69175	0.482000	0.46254	AAT		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	52	0	0	0	1	0	12	52				
ENAM	10117	broad.mit.edu	37	4	71507979	71507979	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:71507979C>T	ENST00000396073.3	+	9	1117	c.836C>T	c.(835-837)aCt>aTt	p.T279I	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	279					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGACTAAACACTGGGAACAAC	0.532																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(835-837)aCt>aTt		enamelin							82.0	75.0	77.0					4																	71507979		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71507979C>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.836C>T	4.37:g.71507979C>T	ENSP00000379383:p.Thr279Ile					ENAM_ENST00000472903.1_Intron	p.T279I	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1117	+			279					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.836C>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	6.480	0.456762	0.12283	.	.	ENSG00000132464	ENST00000396073	T	0.36340	1.26	5.93	5.09	0.68999	.	0.642141	0.14628	N	0.307980	T	0.40171	0.1106	M	0.61703	1.905	0.09310	N	1	P	0.36222	0.544	B	0.40038	0.317	T	0.29579	-1.0007	10	0.38643	T	0.18	0.001	11.0834	0.48072	0.0:0.9156:0.0:0.0844	.	279	Q9NRM1	ENAM_HUMAN	I	279	ENSP00000379383:T279I	ENSP00000379383:T279I	T	+	2	0	ENAM	71726843	0.905000	0.30787	0.043000	0.18650	0.004000	0.04260	1.748000	0.38308	1.529000	0.49120	0.655000	0.94253	ACT		0.532	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		11	75	0	0	0	1	0	11	75				
DCC	1630	broad.mit.edu	37	18	50432692	50432692	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50432692T>G	ENST00000442544.2	+	3	1307	c.691T>G	c.(691-693)Tta>Gta	p.L231V	DCC_ENST00000412726.1_Missense_Mutation_p.L79V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	231					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTCAGAATTTTATCAGGTAT	0.383																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(691-693)Tta>Gta		deleted in colorectal carcinoma							82.0	83.0	82.0					18																	50432692		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50432692T>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.691T>G	18.37:g.50432692T>G	ENSP00000389140:p.Leu231Val					DCC_ENST00000412726.1_Missense_Mutation_p.L79V	p.L231V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	1307	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	231						Missense_Mutation	SNP	ENST00000442544.2	37	c.691T>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.778246	0.31502	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.40756	1.02;1.02	5.93	2.35	0.29111	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.33323	0.0859	L	0.49778	1.585	0.80722	D	1	B;B	0.25235	0.0;0.121	B;B	0.24269	0.007;0.052	T	0.06954	-1.0798	10	0.36615	T	0.2	.	7.9179	0.29829	0.0:0.3387:0.0:0.6612	.	79;231	E7EQM8;P43146	.;DCC_HUMAN	V	231;164;79	ENSP00000389140:L231V;ENSP00000397322:L79V	ENSP00000304146:L164V	L	+	1	2	DCC	48686690	0.997000	0.39634	0.977000	0.42913	0.931000	0.56810	1.284000	0.33249	0.169000	0.19679	0.533000	0.62120	TTA		0.383	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		30	41	0	0	0	1	0	30	41				
ANKRD36B	57730	broad.mit.edu	37	2	98169646	98169646	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98169646C>A	ENST00000443455.1	-	0	1368							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CCAGATTTTTCTCCATCCTTT	0.358																																						ENST00000443455.1																			0													ankyrin repeat domain 36B							32.0	33.0	32.0					2																	98169646		1806	4070	5876			57730							g.chr2:98169646C>A	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98169646C>A										Q8N2N9	AN36B_HUMAN			0	1368	-								Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	ENST00000443455.1	37																																																																																						0.358	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		12	18	1	0	5.50884e-06	1	6.10489e-06	12	18				
MYBPC1	4604	broad.mit.edu	37	12	102067366	102067366	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102067366C>T	ENST00000550270.1	+	24	2754	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	MYBPC1_ENST00000541119.1_Silent_p.F888F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000452455.2_Silent_p.F918F|MYBPC1_ENST00000549145.1_Silent_p.F931F|MYBPC1_ENST00000545503.2_Silent_p.F900F|MYBPC1_ENST00000553190.1_Silent_p.F900F|MYBPC1_ENST00000547509.1_Silent_p.F886F|MYBPC1_ENST00000536007.1_Silent_p.F881F|MYBPC1_ENST00000392934.3_Silent_p.F887F|MYBPC1_ENST00000441232.1_Silent_p.F918F|MYBPC1_ENST00000361466.2_Silent_p.F925F|MYBPC1_ENST00000360610.2_Silent_p.F918F|MYBPC1_ENST00000361685.2_Silent_p.F925F|MYBPC1_ENST00000547405.1_Silent_p.F874F|MYBPC1_ENST00000551300.1_Silent_p.F801F			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	918	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.F925L(1)|p.F918L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGGACAAATTCGTGGAGACCG	0.418																																						ENST00000549145.1																			2	Substitution - Missense(2)	p.F925L(1)|p.F918L(1)	lung(2)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2791-2793)ttC>ttT		myosin binding protein C, slow type							163.0	167.0	165.0					12																	102067366		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102067366C>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2754C>T	12.37:g.102067366C>T						MYBPC1_ENST00000547405.1_Silent_p.F874F|MYBPC1_ENST00000551300.1_Silent_p.F801F|MYBPC1_ENST00000452455.2_Silent_p.F918F|MYBPC1_ENST00000360610.2_Silent_p.F918F|MYBPC1_ENST00000392934.3_Silent_p.F887F|MYBPC1_ENST00000441232.1_Silent_p.F918F|MYBPC1_ENST00000361466.2_Silent_p.F925F|MYBPC1_ENST00000536007.1_Silent_p.F881F|MYBPC1_ENST00000541119.1_Silent_p.F888F|MYBPC1_ENST00000547509.1_Silent_p.F886F|MYBPC1_ENST00000545503.2_Silent_p.F900F|MYBPC1_ENST00000553190.1_Silent_p.F900F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.F918F|MYBPC1_ENST00000361685.2_Silent_p.F925F	p.F931F			Q00872	MYPC1_HUMAN			25	2893	+			918			Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.2793C>T	CCDS9085.1																																																																																				0.418	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			57	114	0	0	0	1	0	57	114				
KCNA3	3738	broad.mit.edu	37	1	111216263	111216263	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216263G>A	ENST00000369769.2	-	1	1392	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	390				T -> S (in Ref. 5; AAA36425). {ECO:0000305}.	potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CGCCTTCAGCGTTTGCCCGAG	0.587																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1168-1170)aCg>aTg		potassium voltage-gated channel, shaker-related subfamily, member 3							84.0	84.0	84.0					1																	111216263		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216263G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1169C>T	1.37:g.111216263G>A	ENSP00000358784:p.Thr390Met						p.T390M	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1392	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	390	T -> S (in Ref. 5; AAA36425).				Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1169C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939224	0.73557	.	.	ENSG00000177272	ENST00000369769	D	0.98437	-4.93	5.71	5.71	0.89125	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99495	0.9820	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98256	1.0496	10	0.87932	D	0	.	19.8489	0.96731	0.0:0.0:1.0:0.0	.	390	P22001	KCNA3_HUMAN	M	390	ENSP00000358784:T390M	ENSP00000358784:T390M	T	-	2	0	KCNA3	111017786	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.864000	0.99589	2.689000	0.91719	0.655000	0.94253	ACG		0.587	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		50	81	0	0	0	1	0	50	81				
MYH7	4625	broad.mit.edu	37	14	23902789	23902789	+	Silent	SNP	G	G	A	rs373145667		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23902789G>A	ENST00000355349.3	-	3	315	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	51					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCGAGACACGATCTTGGCCT	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22654	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(151-153)atC>atT		myosin, heavy chain 7, cardiac muscle, beta		G		3,4403	8.1+/-20.4	0,3,2200	133.0	107.0	116.0		153	-4.4	0.0	14		116	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		51/1936	23902789	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23902789G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.153C>T	14.37:g.23902789G>A							p.I51I	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	3	315	-	all_cancers(95;2.54e-05)		51			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.153C>T	CCDS9601.1																																																																																				0.557	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		25	47	0	0	0	1	0	25	47				
CDC27	996	broad.mit.edu	37	17	45216218	45216218	+	Missense_Mutation	SNP	A	A	G	rs539804101		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45216218A>G	ENST00000066544.3	-	13	1684	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H|CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	531					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCAACTCTATAATTCTCAATC	0.328																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1591-1593)Tat>Cat		cell division cycle 27							34.0	38.0	37.0					17																	45216218		2200	4296	6496	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45216218A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1591T>C	17.37:g.45216218A>G	ENSP00000066544:p.Tyr531His					CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H|CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H	p.Y531H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			13	1684	-			531					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1591T>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197413	0.38806	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.67345	-0.26;-0.26;0.03;-0.26	5.38	5.38	0.77491	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.056763	0.64402	D	0.000001	T	0.47451	0.1446	N	0.12611	0.24	0.50039	D	0.999841	B;B;B;B	0.23490	0.086;0.034;0.034;0.021	B;B;B;B	0.24394	0.053;0.023;0.023;0.012	T	0.43015	-0.9417	10	0.17832	T	0.49	-16.7975	13.3334	0.60503	1.0:0.0:0.0:0.0	.	470;530;537;531	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	H	531;537;470;530	ENSP00000066544:Y531H;ENSP00000434614:Y537H;ENSP00000392802:Y470H;ENSP00000437339:Y530H	ENSP00000066544:Y531H	Y	-	1	0	CDC27	42571217	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.033000	0.60031	0.528000	0.53228	TAT		0.328	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	28	0	0	0	1	0	3	28				
CBX5	23468	broad.mit.edu	37	12	54645982	54645982	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54645982T>C	ENST00000439541.2	-	3	292	c.167A>G	c.(166-168)aAc>aGc	p.N56S	CBX5_ENST00000209875.4_Missense_Mutation_p.N56S|CBX5_ENST00000550411.1_Missense_Mutation_p.N56S	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	56	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						GCAATCCAAGTTTTTCTCAGG	0.368																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(166-168)aAc>aGc		chromobox homolog 5							63.0	67.0	65.0					12																	54645982		2203	4300	6503	SO:0001583	missense	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54645982T>C	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.167A>G	12.37:g.54645982T>C	ENSP00000401009:p.Asn56Ser					CBX5_ENST00000439541.2_Missense_Mutation_p.N56S|CBX5_ENST00000550411.1_Missense_Mutation_p.N56S	p.N56S	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			3	303	-			56			Chromo 1.		B2R8T9	Missense_Mutation	SNP	ENST00000439541.2	37	c.167A>G	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575180	0.86542	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.22	5.22	0.72569	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.97110	0.953;1.0	D	0.90207	0.4261	10	0.87932	D	0	-21.3997	13.3969	0.60858	0.0:0.0:0.0:1.0	.	56;56	G3V1X9;P45973	.;CBX5_HUMAN	S	56	ENSP00000209875:N56S;ENSP00000401009:N56S;ENSP00000449207:N56S;ENSP00000450190:N56S	ENSP00000209875:N56S	N	-	2	0	CBX5	52932249	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.570000	0.82390	2.333000	0.79357	0.533000	0.62120	AAC		0.368	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		16	27	0	0	0	1	0	16	27				
GABRB2	2561	broad.mit.edu	37	5	160753387	160753387	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160753387G>T	ENST00000393959.1	-	9	1178	c.1179C>A	c.(1177-1179)ttC>ttA	p.F393L	GABRB2_ENST00000274547.2_Missense_Mutation_p.F393L|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000353437.6_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	393					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TATACAGAGAGAAATCGTaat	0.373																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1177-1179)ttC>ttA		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						114.0	111.0	112.0					5																	160753387		2203	4299	6502	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160753387G>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1179C>A	5.37:g.160753387G>T	ENSP00000377531:p.Phe393Leu					GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.F393L|GABRB2_ENST00000517901.1_Intron	p.F393L	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1396	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	393					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1179C>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	7.849	0.723550	0.15439	.	.	ENSG00000145864	ENST00000393959;ENST00000274547	T;T	0.69040	-0.37;-0.37	5.36	4.49	0.54785	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.334770	0.05741	U	0.601406	T	0.44726	0.1307	N	0.03608	-0.345	0.24983	N	0.991583	B	0.02656	0.0	B	0.01281	0.0	T	0.21177	-1.0253	10	0.11485	T	0.65	.	11.3068	0.49340	0.0859:0.0:0.9141:0.0	.	393	P47870	GBRB2_HUMAN	L	393	ENSP00000377531:F393L;ENSP00000274547:F393L	ENSP00000274547:F393L	F	-	3	2	GABRB2	160685965	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.294000	0.65687	1.278000	0.44430	-0.140000	0.14226	TTC		0.373	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			7	31	1	0	0.0381472	1	0.0387537	7	31				
MAGEC2	51438	broad.mit.edu	37	X	141291629	141291629	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:141291629C>A	ENST00000247452.3	-	3	492	c.145G>T	c.(145-147)Gta>Tta	p.V49L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	49	Ser-rich.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAAATACTAAGTACAAA	0.517										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(145-147)Gta>Tta		melanoma antigen family C, 2							102.0	105.0	104.0					X																	141291629		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291629C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.145G>T	X.37:g.141291629C>A	ENSP00000354660:p.Val49Leu	HNSCC(46;0.14)					p.V49L	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	492	-	Acute lymphoblastic leukemia(192;6.56e-05)		49			Ser-rich.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.145G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	6.928	0.540995	0.13250	.	.	ENSG00000046774	ENST00000247452	T	0.02032	4.49	1.09	-2.17	0.07059	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.48139	-0.9061	9	0.15499	T	0.54	.	2.2561	0.04055	0.4113:0.3276:0.2611:0.0	.	49	Q9UBF1	MAGC2_HUMAN	L	49	ENSP00000354660:V49L	ENSP00000354660:V49L	V	-	1	0	MAGEC2	141119295	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.647000	0.05397	-0.829000	0.04268	-0.728000	0.03583	GTA		0.517	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		65	118	1	0	2.19297e-23	1	3.06666e-23	65	118				
ACSM2B	348158	broad.mit.edu	37	16	20554554	20554554	+	Nonsense_Mutation	SNP	G	G	A	rs375700760		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20554554G>A	ENST00000329697.6	-	11	1480	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R359*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R438*|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R438*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	438					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGTCTCCTCGAATGTTGGCT	0.512																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1312-1314)Cga>Tga		acyl-CoA synthetase medium-chain family member 2B		G	stop/ARG,stop/ARG	0,4400		0,0,2200	106.0	146.0	133.0		1312,1312	2.3	0.9	16		133	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained	ACSM2B	NM_001105069.1,NM_182617.3	,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,	438/578,438/578	20554554	1,12997	2200	4299	6499	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554554G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1312C>T	16.37:g.20554554G>A	ENSP00000327453:p.Arg438*					ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R359*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R438*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R438*	p.R438*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			11	1480	-			438					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.1312C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455561	0.26161	0.0	1.16E-4	ENSG00000066813	ENST00000329697	.	.	.	3.26	2.26	0.28386	.	0.490322	0.14929	N	0.290162	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3051	6.7535	0.23499	0.1013:0.0:0.7203:0.1785	.	.	.	.	X	438	.	ENSP00000327453:R438X	R	-	1	2	ACSM2B	20462055	0.014000	0.17966	0.936000	0.37596	0.167000	0.22549	0.208000	0.17415	0.667000	0.31107	0.609000	0.83330	CGA		0.512	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		8	179	0	0	0	1	0	8	179				
TECTA	7007	broad.mit.edu	37	11	121008215	121008215	+	Silent	SNP	C	C	T	rs564015728		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:121008215C>T	ENST00000392793.1	+	11	3298	c.3027C>T	c.(3025-3027)tgC>tgT	p.C1009C	TECTA_ENST00000264037.2_Silent_p.C1009C			O75443	TECTA_HUMAN	tectorin alpha	1009	TIL 2.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCCCATCTGCGTGGATAGCT	0.577																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(3025-3027)tgC>tgT		tectorin alpha							140.0	117.0	125.0					11																	121008215		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121008215C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3027C>T	11.37:g.121008215C>T						TECTA_ENST00000264037.2_Silent_p.C1009C	p.C1009C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	11	3298	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1009			TIL 2.			Silent	SNP	ENST00000392793.1	37	c.3027C>T	CCDS8434.1																																																																																				0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		33	57	0	0	0	1	0	33	57				
MDGA2	161357	broad.mit.edu	37	14	47530619	47530619	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:47530619T>G	ENST00000399232.2	-	7	1515	c.1151A>C	c.(1150-1152)gAg>gCg	p.E384A	MDGA2_ENST00000426342.1_Missense_Mutation_p.E155A|MDGA2_ENST00000439988.3_Missense_Mutation_p.E453A|MDGA2_ENST00000357362.3_Missense_Mutation_p.E155A	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	384	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GACCATCCGCTCAGAACTTCT	0.413																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(463-465)gAg>gCg		MAM domain containing glycosylphosphatidylinositol anchor 2							155.0	139.0	144.0					14																	47530619		1894	4112	6006	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530619T>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1151A>C	14.37:g.47530619T>G	ENSP00000382178:p.Glu384Ala					MDGA2_ENST00000399232.2_Missense_Mutation_p.E453A|MDGA2_ENST00000439988.2_Missense_Mutation_p.E384A|MDGA2_ENST00000357362.3_Missense_Mutation_p.E155A	p.E155A	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			7	1210	-			384			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.464A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.280650|4.280650	0.80692|0.80692	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.51477|.	U|.	0.000089|.	T|.	0.58380|.	0.2118|.	L|L	0.37561|0.37561	1.115|1.115	0.80722|0.80722	D|D	1|1	P|.	0.50819|.	0.939|.	P|.	0.56960|.	0.81|.	T|.	0.54912|.	-0.8222|.	10|.	0.37606|.	T|.	0.19|.	.|.	15.0909|15.0909	0.72192|0.72192	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	384|.	Q7Z553|.	MDGA2_HUMAN|.	A|C	384;155;453;155|158	ENSP00000400011:E384A;ENSP00000405456:E155A;ENSP00000382178:E453A;ENSP00000349925:E155A|.	ENSP00000349925:E155A|.	E|X	-|-	2|3	0|0	MDGA2|MDGA2	46600369|46600369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.991000|7.991000	0.88244|0.88244	2.240000|2.240000	0.73641|0.73641	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.413	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		28	53	0	0	0	1	0	28	53				
SYNE3	161176	broad.mit.edu	37	14	95884214	95884214	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:95884214G>A	ENST00000334258.5	-	17	2891	c.2877C>T	c.(2875-2877)ttC>ttT	p.F959F	SYNE3_ENST00000554873.1_Silent_p.F716F|SYNE3_ENST00000557275.1_Silent_p.F954F	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	959	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						AGGAGCGGGCGAAGTTGTTGG	0.612																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(2875-2877)ttC>ttT		spectrin repeat containing, nuclear envelope family member 3							152.0	139.0	144.0					14																	95884214		2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95884214G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2877C>T	14.37:g.95884214G>A						SYNE3_ENST00000554873.1_Silent_p.F716F|SYNE3_ENST00000557275.1_Silent_p.F954F	p.F959F	NM_152592.3	NP_689805.3					17	2891	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.2877C>T	CCDS9935.1																																																																																				0.612	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		58	97	0	0	0	1	0	58	97				
APOBEC1	339	broad.mit.edu	37	12	7803651	7803651	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7803651A>G	ENST00000229304.4	-	4	549	c.529T>C	c.(529-531)Ttg>Ctg	p.L177L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	177					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AGTGCGTACAACATCATCCAC	0.443																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(529-531)Ttg>Ctg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							152.0	138.0	143.0					12																	7803651		2203	4300	6503	SO:0001819	synonymous_variant	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7803651A>G	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.529T>C	12.37:g.7803651A>G							p.L177L	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			4	549	-			177					Q9UE64|Q9UM71	Silent	SNP	ENST00000229304.4	37	c.529T>C	CCDS8579.1																																																																																				0.443	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		12	114	0	0	0	1	0	12	114				
THADA	63892	broad.mit.edu	37	2	43797628	43797628	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:43797628T>G	ENST00000405006.4	-	14	2437	c.2086A>C	c.(2086-2088)Agt>Cgt	p.S696R	THADA_ENST00000403856.1_Missense_Mutation_p.S696R|THADA_ENST00000330266.7_Missense_Mutation_p.S406R|THADA_ENST00000404790.1_Missense_Mutation_p.S696R|THADA_ENST00000405975.2_Missense_Mutation_p.S696R|THADA_ENST00000415080.2_Missense_Mutation_p.S406R|THADA_ENST00000402360.2_Missense_Mutation_p.S696R	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	696										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCTGAGAACTTTCCTGTATC	0.363																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(2086-2088)Agt>Cgt		thyroid adenoma associated							119.0	111.0	113.0					2																	43797628		1830	4089	5919	SO:0001583	missense	63892						binding	g.chr2:43797628T>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2086A>C	2.37:g.43797628T>G	ENSP00000385995:p.Ser696Arg					THADA_ENST00000405006.4_Missense_Mutation_p.S696R|THADA_ENST00000330266.7_Missense_Mutation_p.S406R|THADA_ENST00000415080.2_Missense_Mutation_p.S406R|THADA_ENST00000405975.2_Missense_Mutation_p.S696R|THADA_ENST00000404790.1_Missense_Mutation_p.S696R|THADA_ENST00000402360.2_Missense_Mutation_p.S696R	p.S696R			Q6YHU6	THADA_HUMAN			15	2233	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	696					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.2086A>C	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.980643|3.980643	0.74474|0.74474	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	.|T;T;T;T;T;T;T	.|0.65364	.|1.46;1.46;1.46;1.46;-0.15;-0.15;0.95	5.41|5.41	4.26|4.26	0.50523|0.50523	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.67953|0.67953	2.075|2.075	0.41440|0.41440	D|D	0.987917|0.987917	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.988;0.974;0.998;0.996;0.975	T|T	0.77517|0.77517	-0.2558|-0.2558	5|10	.|0.72032	.|D	.|0.01	.|.	10.668|10.668	0.45741|0.45741	0.0:0.0747:0.0:0.9253|0.0:0.0747:0.0:0.9253	.|.	.|696;696;696;406;696	.|B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.|.;.;.;.;THADA_HUMAN	N|R	9|406;696;697;406;696;696;696;696	.|ENSP00000331105:S406R;ENSP00000386088:S696R;ENSP00000416048:S406R;ENSP00000385995:S696R;ENSP00000385441:S696R;ENSP00000384266:S696R;ENSP00000385469:S696R	.|ENSP00000331105:S406R	K|S	-|-	3|1	2|0	THADA|THADA	43651132|43651132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	3.583000|3.583000	0.53928|0.53928	2.047000|2.047000	0.60756|0.60756	0.482000|0.482000	0.46254|0.46254	AAA|AGT		0.363	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		10	23	0	0	0	1	0	10	23				
HSPA12A	259217	broad.mit.edu	37	10	118434331	118434331	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118434331C>T	ENST00000369209.3	-	12	2093	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	663						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGACACTCTTCGAAGTGGCTA	0.557																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1987-1989)tcG>tcA		heat shock 70kDa protein 12A							58.0	64.0	62.0					10																	118434331		1959	4139	6098	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118434331C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1989G>A	10.37:g.118434331C>T							p.S663S	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	2093	-			663						Silent	SNP	ENST00000369209.3	37	c.1989G>A	CCDS41569.1																																																																																				0.557	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		16	31	0	0	0	1	0	16	31				
ZC3H6	376940	broad.mit.edu	37	2	113082687	113082687	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113082687G>A	ENST00000409871.1	+	11	2400	c.1999G>A	c.(1999-2001)Gct>Act	p.A667T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.A667T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	667							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGTGCAAAGAGCTCTTTTTGT	0.517																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(1999-2001)Gct>Act		zinc finger CCCH-type containing 6							71.0	71.0	71.0					2																	113082687		1979	4169	6148	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113082687G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1999G>A	2.37:g.113082687G>A	ENSP00000386764:p.Ala667Thr					ZC3H6_ENST00000343936.4_Missense_Mutation_p.A667T	p.A667T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			11	2400	+			667					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.1999G>A	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421076	0.96111	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.18960	2.18;2.18	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	M	0.76328	2.33	0.54753	D	0.999983	D	0.89917	1.0	D	0.68765	0.96	T	0.45934	-0.9227	10	0.72032	D	0.01	-19.7275	20.2147	0.98293	0.0:0.0:1.0:0.0	.	667	P61129	ZC3H6_HUMAN	T	667;667;644	ENSP00000386764:A667T;ENSP00000340298:A667T	ENSP00000340298:A667T	A	+	1	0	ZC3H6	112799158	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.435000	0.80391	2.785000	0.95823	0.591000	0.81541	GCT		0.517	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		16	37	0	0	0	1	0	16	37				
C17orf104	284071	broad.mit.edu	37	17	42745125	42745125	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42745125C>T	ENST00000409122.2	+	5	1988	c.1846C>T	c.(1846-1848)Cat>Tat	p.H616Y	C17orf104_ENST00000409464.1_Missense_Mutation_p.H450Y|C17orf104_ENST00000359945.3_Missense_Mutation_p.H616Y	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	616										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CCAGAGTGGACATTATGATCC	0.383																																						ENST00000409122.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						c.(1846-1848)Cat>Tat		chromosome 17 open reading frame 104							44.0	42.0	43.0					17																	42745125		2203	4300	6503	SO:0001583	missense	284071							g.chr17:42745125C>T		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1846C>T	17.37:g.42745125C>T	ENSP00000386452:p.His616Tyr					C17orf104_ENST00000409464.1_Missense_Mutation_p.H450Y|C17orf104_ENST00000359945.3_Missense_Mutation_p.H616Y	p.H616Y	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN			5	1988	+			616					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	c.1846C>T	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446125	0.43429	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.37584	1.2;1.19;1.22	5.66	5.66	0.87406	.	0.126895	0.53938	D	0.000044	T	0.52240	0.1722	L	0.38175	1.15	0.30859	N	0.733753	D;D;D	0.76494	0.991;0.991;0.999	P;P;D	0.68943	0.895;0.852;0.961	T	0.53401	-0.8444	10	0.59425	D	0.04	-27.4875	19.7324	0.96188	0.0:1.0:0.0:0.0	.	616;616;450	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	Y	616;616;450	ENSP00000353028:H616Y;ENSP00000386452:H616Y;ENSP00000386586:H450Y	ENSP00000353028:H616Y	H	+	1	0	C17orf104	40100651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.308000	0.43690	2.663000	0.90544	0.655000	0.94253	CAT		0.383	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		3	21	0	0	0	1	0	3	21				
MAGEE1	57692	broad.mit.edu	37	X	75650001	75650001	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:75650001C>A	ENST00000361470.2	+	1	1956	c.1678C>A	c.(1678-1680)Ctg>Atg	p.L560M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	560	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTACATTCTGTTAAACAA	0.483																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1678-1680)Ctg>Atg		melanoma antigen family E, 1							34.0	30.0	32.0					X																	75650001		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650001C>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1678C>A	X.37:g.75650001C>A	ENSP00000354912:p.Leu560Met						p.L560M	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1956	+			560			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1678C>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	4.212	0.038202	0.08148	.	.	ENSG00000198934	ENST00000361470	T	0.16196	2.36	2.34	1.46	0.22682	.	.	.	.	.	T	0.37489	0.1005	M	0.81802	2.56	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11131	-1.0600	9	0.87932	D	0	.	4.3531	0.11165	0.0:0.7943:0.0:0.2057	.	560	Q9HCI5	MAGE1_HUMAN	M	560	ENSP00000354912:L560M	ENSP00000354912:L560M	L	+	1	2	MAGEE1	75566405	0.999000	0.42202	0.023000	0.16930	0.003000	0.03518	0.913000	0.28611	0.403000	0.25479	0.594000	0.82650	CTG		0.483	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		12	26	1	0	0.00010058	1	0.000108553	12	26				
SEPT3	55964	broad.mit.edu	37	22	42377819	42377819	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42377819G>A	ENST00000396426.3	+	2	436	c.181G>A	c.(181-183)Gac>Aac	p.D61N	SEPT3_ENST00000328414.8_Missense_Mutation_p.D61N|SEPT3_ENST00000396425.3_Missense_Mutation_p.D61N|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000291236.11_Intron	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	61	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GACCGGTTTCGACTTCAACAT	0.567																																						ENST00000396425.3																			0				breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(181-183)Gac>Aac		septin 3							117.0	93.0	101.0					22																	42377819		2203	4300	6503	SO:0001583	missense	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42377819G>A	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.181G>A	22.37:g.42377819G>A	ENSP00000379704:p.Asp61Asn					SEPT3_ENST00000396426.3_Missense_Mutation_p.D61N|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000328414.8_Missense_Mutation_p.D61N|SEPT3_ENST00000406029.1_Intron|CTA-250D10.19_ENST00000424613.1_RNA	p.D61N	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN			2	312	+			61					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	c.181G>A	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	G	33	5.274881	0.95459	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000328414;ENST00000396425	T;T;T	0.52754	0.65;0.65;0.65	5.6	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	N	0.04373	-0.215	0.80722	D	1	B;B	0.21452	0.045;0.056	B;B	0.16722	0.009;0.016	T	0.06991	-1.0796	10	0.42905	T	0.14	.	15.0332	0.71723	0.0687:0.0:0.9313:0.0	.	61;61	Q9UH03-2;Q9UH03	.;SEPT3_HUMAN	N	48;61;61;61	ENSP00000391416:D48N;ENSP00000379704:D61N;ENSP00000379703:D61N	ENSP00000332866:D61N	D	+	1	0	SEPT3	40707765	1.000000	0.71417	0.969000	0.41365	0.834000	0.47266	9.869000	0.99810	1.515000	0.48885	0.557000	0.71058	GAC		0.567	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		16	20	0	0	0	1	0	16	20				
FCER1A	2205	broad.mit.edu	37	1	159277721	159277721	+	Nonstop_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:159277721G>T	ENST00000368115.1	+	6	872	c.773G>T	c.(772-774)tGa>tTa	p.*258L	FCER1A_ENST00000368114.1_Nonstop_Mutation_p.*225L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	0					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AAAAACAACTGATATAATTAC	0.378																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(772-774)tGa>tTa		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						71.0	67.0	68.0					1																	159277721		2203	4300	6503	SO:0001578	stop_lost	2205					integral to plasma membrane		g.chr1:159277721G>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.773G>T	1.37:g.159277721G>T	ENSP00000357097:p.*258Leuext*44					FCER1A_ENST00000368114.1_Nonstop_Mutation_p.*225L	p.*258L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			6	872	+	all_hematologic(112;0.0429)		0						Nonstop_Mutation	SNP	ENST00000368115.1	37	c.773G>T	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	5.420	0.262624	0.10294	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	.	.	.	4.31	0.832	0.18867	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9952	0.19489	0.4141:0.0:0.5859:0.0	.	.	.	.	L	258;225	.	.	X	+	2	2	FCER1A	157544345	0.508000	0.26154	0.010000	0.14722	0.002000	0.02628	1.024000	0.30077	0.171000	0.19730	-0.145000	0.13849	TGA		0.378	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		10	22	1	0	0.0692343	1	0.0701576	10	22				
STRC	161497	broad.mit.edu	37	15	43892823	43892823	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43892823C>A	ENST00000450892.2	-	26	4979	c.4902G>T	c.(4900-4902)gaG>gaT	p.E1634D	STRC_ENST00000541030.1_Missense_Mutation_p.E861D|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1634					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGGCCAGAACCTCCAGTTGTT	0.542																																						ENST00000450892.2																			0				skin(4)	4						c.(4900-4902)gaG>gaT		stereocilin							59.0	62.0	61.0					15																	43892823		2200	4297	6497	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43892823C>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4902G>T	15.37:g.43892823C>A	ENSP00000401513:p.Glu1634Asp					STRC_ENST00000541030.1_Missense_Mutation_p.E861D	p.E1634D	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	26	4979	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1634						Missense_Mutation	SNP	ENST00000450892.2	37	c.4902G>T	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835230	0.50951	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.79247	-1.25;-1.22	4.75	1.71	0.24356	.	0.224794	0.27725	N	0.018120	T	0.74045	0.3665	L	0.27053	0.805	0.29436	N	0.859508	P;D	0.76494	0.508;0.999	B;D	0.72982	0.372;0.979	T	0.65586	-0.6132	10	0.16420	T	0.52	-13.6148	5.9602	0.19295	0.0:0.6432:0.0:0.3568	.	861;1634	F5GXA4;Q7RTU9	.;STRC_HUMAN	D	1634;1634;861	ENSP00000401513:E1634D;ENSP00000440413:E861D	ENSP00000299992:E1634D	E	-	3	2	STRC	41680115	0.996000	0.38824	1.000000	0.80357	0.913000	0.54294	0.772000	0.26647	0.266000	0.21894	0.313000	0.20887	GAG		0.542	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		17	77	1	0	3.45872e-05	1	3.78815e-05	17	77				
ASF1A	25842	broad.mit.edu	37	6	119226904	119226904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:119226904G>T	ENST00000229595.5	+	3	507	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	105	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TCGAGGACAAGAATTTATTAG	0.358																																						ENST00000229595.5																			0				endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						c.(313-315)Gaa>Taa		anti-silencing function 1A histone chaperone							153.0	151.0	151.0					6																	119226904		1849	4097	5946	SO:0001587	stop_gained	25842				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding	g.chr6:119226904G>T	AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.313G>T	6.37:g.119226904G>T	ENSP00000229595:p.Glu105*					MCM9_ENST00000316316.6_Intron	p.E105*	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)	3	507	+		all_cancers(87;0.122)|all_epithelial(87;0.179)	105			Interaction with histone H3, CHAF1B, and HIRA.		Q6IA08|Q9P014	Nonsense_Mutation	SNP	ENST00000229595.5	37	c.313G>T	CCDS47469.1	.	.	.	.	.	.	.	.	.	.	G	38	6.870236	0.97901	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-15.7768	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000229595:E105X	E	+	1	0	ASF1A	119268603	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAA		0.358	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361910.1	NM_014034		33	50	1	0	3.99451e-17	1	5.34789e-17	33	50				
L1TD1	54596	broad.mit.edu	37	1	62676247	62676247	+	Nonsense_Mutation	SNP	G	G	T	rs202029696	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62676247G>T	ENST00000498273.1	+	4	2096	c.1801G>T	c.(1801-1803)Gaa>Taa	p.E601*	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	601										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GCACACAGAAGAACTAACATC	0.348																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1801-1803)Gaa>Taa		LINE-1 type transposase domain containing 1							38.0	37.0	38.0					1																	62676247		2203	4300	6503	SO:0001587	stop_gained	54596							g.chr1:62676247G>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1801G>T	1.37:g.62676247G>T	ENSP00000419901:p.Glu601*						p.E601*	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			4	2096	+			601					Q8NDA1|Q9NUV8|Q9NV78	Nonsense_Mutation	SNP	ENST00000498273.1	37	c.1801G>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	g	37	6.262370	0.97421	.	.	ENSG00000240563	ENST00000498273	.	.	.	3.07	-0.157	0.13387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	1.6486	0.02766	0.1282:0.2083:0.4503:0.2133	.	.	.	.	X	601	.	ENSP00000419901:E601X	E	+	1	0	L1TD1	62448835	0.011000	0.17503	0.000000	0.03702	0.176000	0.22953	0.137000	0.15995	-0.006000	0.14370	0.467000	0.42956	GAA		0.348	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		11	21	1	0	2.80697e-09	1	3.36108e-09	11	21				
FKBP10	60681	broad.mit.edu	37	17	39978543	39978543	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39978543G>T	ENST00000321562.4	+	10	1736	c.1632G>T	c.(1630-1632)gaG>gaT	p.E544D	FKBP10_ENST00000544340.1_Missense_Mutation_p.E317D	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	544	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGGACCCTGAGAAAACCATAG	0.602																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1630-1632)gaG>gaT		FK506 binding protein 10, 65 kDa							79.0	64.0	69.0					17																	39978543		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39978543G>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1632G>T	17.37:g.39978543G>T	ENSP00000317232:p.Glu544Asp					FKBP10_ENST00000544340.1_Missense_Mutation_p.E317D	p.E544D	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	10	1736	+		Breast(137;0.00122)	544			EF-hand 2.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.1632G>T	CCDS11409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.857|9.857	1.195141|1.195141	0.22037|0.22037	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000544340|ENST00000455106	T;T|.	0.57595|.	0.39;0.39|.	5.93|5.93	3.8|3.8	0.43715|0.43715	EF-hand-like domain (1);|.	0.202755|.	0.40818|.	N|.	0.001001|.	T|T	0.32496|0.32496	0.0831|0.0831	N|N	0.05280|0.05280	-0.08|-0.08	0.42202|0.42202	D|D	0.991771|0.991771	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.12156|.	0.003;0.007|.	T|T	0.12426|0.12426	-1.0548|-1.0548	10|5	0.10902|.	T|.	0.67|.	-34.1933|-34.1933	10.3685|10.3685	0.44039|0.44039	0.0693:0.2649:0.6658:0.0|0.0693:0.2649:0.6658:0.0	.|.	317;544|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	D|I	432;544;317|348	ENSP00000317232:E544D;ENSP00000442009:E317D|.	ENSP00000269598:E432D|.	E|R	+|+	3|2	2|0	FKBP10|FKBP10	37232069|37232069	0.100000|0.100000	0.21855|0.21855	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	-0.067000|-0.067000	0.11579|0.11579	1.487000|1.487000	0.48415|0.48415	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.602	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		7	21	1	0	0.0293803	1	0.0299069	7	21				
DOCK10	55619	broad.mit.edu	37	2	225668910	225668910	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225668910T>G	ENST00000258390.7	-	39	4254	c.4187A>C	c.(4186-4188)aAa>aCa	p.K1396T	DOCK10_ENST00000409592.3_Missense_Mutation_p.K1390T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1396					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTGCACAAATTTAAATGCAGC	0.373																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4168-4170)aAa>aCa		dedicator of cytokinesis 10							84.0	81.0	82.0					2																	225668910		1827	4080	5907	SO:0001583	missense	55619						GTP binding	g.chr2:225668910T>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4187A>C	2.37:g.225668910T>G	ENSP00000258390:p.Lys1396Thr					DOCK10_ENST00000258390.7_Missense_Mutation_p.K1396T	p.K1390T			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	39	4282	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1396					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4169A>C	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.711718|4.711718	0.89112|0.89112	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390|ENST00000422684	T;T|.	0.66280|.	4.67;-0.2|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.452223|.	0.24640|.	N|.	0.036814|.	T|T	0.68320|0.68320	0.2988|0.2988	L|L	0.51422|0.51422	1.61|1.61	0.48511|0.48511	D|D	0.999662|0.999662	D;D;P;B|.	0.71674|.	0.996;0.998;0.642;0.41|.	P;D;B;B|.	0.76071|.	0.867;0.987;0.13;0.071|.	T|T	0.66056|0.66056	-0.6018|-0.6018	10|5	0.40728|.	T|.	0.16|.	.|.	15.9389|15.9389	0.79739|0.79739	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1396;250;1390;58|.	Q96BY6;B4DF07;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.;.|.	T|H	1390;1396|278	ENSP00000386694:K1390T;ENSP00000258390:K1396T|.	ENSP00000258390:K1396T|.	K|N	-|-	2|1	0|0	DOCK10|DOCK10	225377154|225377154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.609000|7.609000	0.82925|0.82925	2.165000|2.165000	0.68154|0.68154	0.477000|0.477000	0.44152|0.44152	AAA|AAT		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	19	0	0	0	1	0	7	19				
NUP98	4928	broad.mit.edu	37	11	3781836	3781836	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:3781836C>T	ENST00000324932.7	-	10	1527	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K	NUP98_ENST00000359171.4_Silent_p.K369K|NUP98_ENST00000397007.4_Silent_p.K369K|NUP98_ENST00000397004.4_Silent_p.K369K|NUP98_ENST00000355260.3_Silent_p.K369K	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	369	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATGTAGTAAGCTTGTTATTGC	0.383			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1105-1107)aaG>aaA		nucleoporin 98kDa							82.0	82.0	82.0					11																	3781836		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3781836C>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1107G>A	11.37:g.3781836C>T						NUP98_ENST00000355260.3_Silent_p.K369K|NUP98_ENST00000397007.4_Silent_p.K369K|NUP98_ENST00000397004.4_Silent_p.K369K|NUP98_ENST00000359171.4_Silent_p.K369K	p.K369K	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	10	1527	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	369			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.1107G>A	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	9.645	1.140088	0.21205	.	.	ENSG00000110713	ENST00000529379	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.63988	0.2558	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61907	-0.6966	4	.	.	.	.	11.9402	0.52896	0.0:0.9173:0.0:0.0827	.	.	.	.	N	18	.	.	S	-	2	0	NUP98	3738412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.284000	0.43478	2.566000	0.86566	0.563000	0.77884	AGC		0.383	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		16	44	0	0	0	1	0	16	44				
OXR1	55074	broad.mit.edu	37	8	107705011	107705011	+	Missense_Mutation	SNP	G	G	A	rs149485264		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107705011G>A	ENST00000442977.2	+	6	683	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	OXR1_ENST00000497705.1_Missense_Mutation_p.R127Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R194Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000445937.1_Missense_Mutation_p.R194Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R187Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R194Q	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	195					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.R106Q(1)|p.R195Q(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ACTGGTATTCGACCTGCACGA	0.343													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14643	0.0		0.0	False		,,,				2504	0.0					ENST00000445937.1																			2	Substitution - Missense(2)	p.R106Q(1)|p.R195Q(1)	large_intestine(2)	NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(580-582)cGa>cAa		oxidation resistance 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	85.0	85.0	85.0		584,581,581,560	3.2	1.0	8	dbSNP_134	85	0,8600		0,0,4300	yes	missense,missense,missense,missense	OXR1	NM_001198532.1,NM_001198533.1,NM_018002.3,NM_181354.4	43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	195/875,194/874,194/847,187/840	107705011	3,13003	2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107705011G>A	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.584G>A	8.37:g.107705011G>A	ENSP00000405424:p.Arg195Gln					OXR1_ENST00000312046.6_Missense_Mutation_p.R187Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.R194Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R194Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R195Q|OXR1_ENST00000497705.1_Missense_Mutation_p.R127Q	p.R194Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	842	+			195					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.581G>A	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.51|15.51	2.855985|2.855985	0.51376|0.51376	6.81E-4|6.81E-4	0.0|0.0	ENSG00000164830|ENSG00000164830	ENST00000517455|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	.|T;T;T;T;T;T	.|0.23754	.|2.72;2.72;2.7;2.7;1.89;2.69	5.06|5.06	3.25|3.25	0.37280|0.37280	.|.	.|0.066956	.|0.64402	.|D	.|0.000010	T|T	0.40398|0.40398	0.1115|0.1115	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.998;1.0;0.999	.|D;P;D;D	.|0.71414	.|0.932;0.856;0.973;0.932	T|T	0.10154|0.10154	-1.0642|-1.0642	5|10	.|0.35671	.|T	.|0.21	-13.8266|-13.8266	11.4862|11.4862	0.50354|0.50354	0.1515:0.0:0.8485:0.0|0.1515:0.0:0.8485:0.0	.|.	.|187;195;127;194	.|Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.|.;OXR1_HUMAN;.;.	N|Q	111|194;194;194;195;127;187	.|ENSP00000402918:R194Q;ENSP00000431966:R194Q;ENSP00000429205:R194Q;ENSP00000405424:R195Q;ENSP00000431014:R127Q;ENSP00000311026:R187Q	.|ENSP00000311026:R187Q	D|R	+|+	1|2	0|0	OXR1|OXR1	107774187|107774187	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.152000|0.152000	0.21847|0.21847	5.033000|5.033000	0.64146|0.64146	1.131000|1.131000	0.42111|0.42111	-0.350000|-0.350000	0.07774|0.07774	GAC|CGA		0.343	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		14	23	0	0	0	1	0	14	23				
KCNA1	3736	broad.mit.edu	37	12	5021796	5021796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:5021796G>T	ENST00000382545.3	+	2	2359	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	418					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CTACCACCGAGAAACTGAGGG	0.527																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1252-1254)Gaa>Taa		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						248.0	249.0	249.0					12																	5021796		2203	4300	6503	SO:0001587	stop_gained	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021796G>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1252G>T	12.37:g.5021796G>T	ENSP00000371985:p.Glu418*					KCNA1_ENST00000543874.2_Intron	p.E418*	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	2359	+			418					A6NM83|Q3MIQ9	Nonsense_Mutation	SNP	ENST00000382545.3	37	c.1252G>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	47	13.500711	0.99746	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6066	0.88040	0.0:0.0:1.0:0.0	.	.	.	.	X	418	.	ENSP00000228858:E418X	E	+	1	0	KCNA1	4892057	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.691000	0.91804	0.655000	0.94253	GAA		0.527	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		73	170	1	0	1.93348e-29	1	2.75448e-29	73	170				
BCCIP	56647	broad.mit.edu	37	10	127519170	127519170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127519170G>T	ENST00000278100.6	+	4	373	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	BCCIP_ENST00000368759.5_Nonsense_Mutation_p.E121*|BCCIP_ENST00000299130.3_Nonsense_Mutation_p.E121*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000478798.1_3'UTR	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	121	Interaction with BRCA2.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATATGGATGAAGATGAGGT	0.303																																						ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(361-363)Gaa>Taa		BRCA2 and CDKN1A interacting protein							177.0	177.0	177.0					10																	127519170		2203	4300	6503	SO:0001587	stop_gained	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127519170G>T	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.361G>T	10.37:g.127519170G>T	ENSP00000278100:p.Glu121*					BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Nonsense_Mutation_p.E121*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000278100.6_Nonsense_Mutation_p.E121*	p.E121*	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			4	373	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	121			Interaction with BRCA2.		B3KP45|Q8ND15|Q96GC4|Q9P288	Nonsense_Mutation	SNP	ENST00000278100.6	37	c.361G>T	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005405	0.74932	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000392718	.	.	.	5.36	3.39	0.38822	.	0.243494	0.44097	D	0.000487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-16.6406	9.147	0.36939	0.0769:0.0:0.7765:0.1466	.	.	.	.	X	121	.	ENSP00000278100:E121X	E	+	1	0	BCCIP	127509160	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	5.421000	0.66447	1.279000	0.44446	0.585000	0.79938	GAA		0.303	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			4	96	1	0	1	1	1	4	96				
PXDNL	137902	broad.mit.edu	37	8	52287292	52287292	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52287292C>T	ENST00000356297.4	-	18	3658		c.e18-1		PXDNL_ENST00000543296.1_Splice_Site	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like						hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCCGTACAACCTGGAACAGAG	0.468																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.e18-1		peroxidasin homolog (Drosophila)-like							54.0	53.0	54.0					8																	52287292		2025	4202	6227	SO:0001630	splice_region_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52287292C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3558-1G>A	8.37:g.52287292C>T						PXDNL_ENST00000543296.1_Splice_Site		NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			18	3658	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)						B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Splice_Site	SNP	ENST00000356297.4	37		CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305874	0.40795	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	4.46	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.147	0.42769	0.0:0.8998:0.0:0.1002	.	.	.	.	.	-1	.	.	.	-	.	.	PXDNL	52449845	1.000000	0.71417	0.020000	0.16555	0.027000	0.11550	5.103000	0.64578	0.879000	0.35944	0.655000	0.94253	.		0.468	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	Intron	12	18	0	0	0	1	0	12	18				
TCF12	6938	broad.mit.edu	37	15	57511760	57511760	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:57511760C>A	ENST00000267811.5	+	9	883				TCF12_ENST00000333725.5_Intron|TCF12_ENST00000343827.3_Missense_Mutation_p.S14Y|TCF12_ENST00000537840.1_5'UTR|TCF12_ENST00000438423.2_Intron|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000543579.1_Missense_Mutation_p.S14Y|TCF12_ENST00000557843.1_Intron|TCF12_ENST00000560764.1_3'UTR	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGCAGCAATTCTTTGATGTAT	0.358			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000343827.3				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(40-42)tCt>tAt		transcription factor 12							149.0	138.0	142.0					15																	57511760		1869	4111	5980	SO:0001627	intron_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57511760C>A	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.580-11590C>A	15.37:g.57511760C>A						TCF12_ENST00000543579.1_Missense_Mutation_p.S14Y|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Intron|TCF12_ENST00000537840.1_5'UTR|TCF12_ENST00000267811.5_Intron|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000438423.2_Intron|TCF12_ENST00000557843.1_Intron	p.S14Y	NM_207040.1	NP_996923.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	1	97	+		Colorectal(260;0.0907)	0					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.41C>A	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055167	0.55325	.	.	ENSG00000140262	ENST00000543579;ENST00000343827	T;T	0.21361	2.01;2.01	5.55	5.55	0.83447	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.80722	D	1	D;D	0.64830	0.987;0.994	P;P	0.57776	0.775;0.827	T	0.28299	-1.0048	8	0.87932	D	0	.	18.4277	0.90614	0.0:1.0:0.0:0.0	.	14;14	F5GY10;Q99081-2	.;.	Y	14	ENSP00000440017:S14Y;ENSP00000342459:S14Y	ENSP00000342459:S14Y	S	+	2	0	TCF12	55299052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.765000	0.74965	2.890000	0.99128	0.585000	0.79938	TCT		0.358	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		7	11	1	0	5.18039e-06	1	5.75679e-06	7	11				
COG6	57511	broad.mit.edu	37	13	40261896	40261896	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:40261896G>T	ENST00000455146.3	+	10	1019	c.969G>T	c.(967-969)aaG>aaT	p.K323N	COG6_ENST00000416691.1_Missense_Mutation_p.K323N	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	323					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CTTCTGAAAAGGAACACCTTG	0.368																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(967-969)aaG>aaT		component of oligomeric golgi complex 6							102.0	96.0	98.0					13																	40261896		2203	4300	6503	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40261896G>T	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.969G>T	13.37:g.40261896G>T	ENSP00000397441:p.Lys323Asn					COG6_ENST00000455146.3_Missense_Mutation_p.K323N	p.K323N	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	10	1069	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	323					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.969G>T	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562654	0.65538	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.57107	0.42;0.42	5.86	4.93	0.64822	.	0.044330	0.85682	D	0.000000	T	0.67813	0.2933	M	0.81802	2.56	0.80722	D	1	D;D	0.63880	0.993;0.968	D;P	0.65874	0.939;0.81	T	0.69405	-0.5154	10	0.54805	T	0.06	-15.4745	6.17	0.20412	0.345:0.0:0.655:0.0	.	344;323	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	N	323;354;323	ENSP00000403733:K323N;ENSP00000397441:K323N	ENSP00000255468:K354N	K	+	3	2	COG6	39159896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.619000	0.36965	1.263000	0.44181	0.591000	0.81541	AAG		0.368	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			10	31	1	0	0.0581538	1	0.0589718	10	31				
GTF2E2	2961	broad.mit.edu	37	8	30464620	30464620	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30464620T>G	ENST00000355904.4	-	6	879	c.597A>C	c.(595-597)aaA>aaC	p.K199N	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	199					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		AGAAAAGTATTTTCTTCTTAT	0.328																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(595-597)aaA>aaC		general transcription factor IIE, polypeptide 2, beta 34kDa							60.0	65.0	64.0					8																	30464620		2203	4294	6497	SO:0001583	missense	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30464620T>G	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.597A>C	8.37:g.30464620T>G	ENSP00000348168:p.Lys199Asn					GTF2E2_ENST00000522833.1_5'UTR	p.K199N	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	6	879	-			199					D3DSV2|Q9H2B9	Missense_Mutation	SNP	ENST00000355904.4	37	c.597A>C	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.414775	0.62511	.	.	ENSG00000197265	ENST00000355904	T	0.35236	1.32	5.73	3.03	0.35002	.	0.042610	0.85682	D	0.000000	T	0.41143	0.1146	M	0.83953	2.67	0.58432	D	0.999993	B	0.30281	0.275	B	0.32805	0.153	T	0.43114	-0.9411	10	0.62326	D	0.03	-15.758	8.9156	0.35579	0.0:0.179:0.0:0.821	.	199	P29084	T2EB_HUMAN	N	199	ENSP00000348168:K199N	ENSP00000348168:K199N	K	-	3	2	GTF2E2	30584162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.207000	0.51106	1.002000	0.39104	0.528000	0.53228	AAA		0.328	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		16	38	0	0	0	1	0	16	38				
GOLGA4	2803	broad.mit.edu	37	3	37365881	37365881	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37365881G>T	ENST00000361924.2	+	14	2878	c.2504G>T	c.(2503-2505)aGa>aTa	p.R835I	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R857I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	835	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAACAGAAAGAATTCTTCTT	0.413																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2503-2505)aGa>aTa		golgin A4							114.0	126.0	122.0					3																	37365881		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37365881G>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.2504G>T	3.37:g.37365881G>T	ENSP00000354486:p.Arg835Ile					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R857I	p.R835I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	2878	+			835			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.2504G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119798	0.56613	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T;T	0.24538	1.89;1.85;2.4;1.88	5.49	-0.144	0.13440	.	0.346769	0.18723	N	0.132947	T	0.24314	0.0589	L	0.53249	1.67	0.24235	N	0.995383	P;P;P;P	0.48503	0.911;0.911;0.911;0.883	P;P;P;B	0.44990	0.466;0.466;0.466;0.26	T	0.18524	-1.0334	10	0.27082	T	0.32	.	9.916	0.41434	0.7416:0.0:0.2584:0.0	.	835;835;857;835	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	I	835;857;396;706	ENSP00000354486:R835I;ENSP00000349305:R857I;ENSP00000403009:R396I;ENSP00000405842:R706I	ENSP00000349305:R857I	R	+	2	0	GOLGA4	37340885	0.860000	0.29831	0.195000	0.23364	0.995000	0.86356	0.623000	0.24447	0.055000	0.16094	0.655000	0.94253	AGA		0.413	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		34	83	1	0	1.62565e-12	1	2.05093e-12	34	83				
ZNF558	148156	broad.mit.edu	37	19	8922567	8922567	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8922567C>A	ENST00000601372.1	-	10	1310	c.599G>T	c.(598-600)aGa>aTa	p.R200I	ZNF558_ENST00000444186.2_Missense_Mutation_p.R129I|ZNF558_ENST00000301475.1_Missense_Mutation_p.R200I			Q96NG5	ZN558_HUMAN	zinc finger protein 558	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						ATTATGGATTCTCTTATGAAT	0.408																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(598-600)aGa>aTa		zinc finger protein 558							72.0	71.0	71.0					19																	8922567		2203	4299	6502	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922567C>A	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.599G>T	19.37:g.8922567C>A	ENSP00000471277:p.Arg200Ile					ZNF558_ENST00000444186.2_Missense_Mutation_p.R129I|ZNF558_ENST00000301475.1_Missense_Mutation_p.R200I	p.R200I			Q96NG5	ZN558_HUMAN			10	1310	-			200					A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.599G>T	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307753	0.81247	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.02446	4.29;4.29	4.98	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000314	T	0.12008	0.0292	M	0.72353	2.195	0.50467	D	0.999874	D	0.89917	1.0	D	0.73380	0.98	T	0.00110	-1.2047	10	0.59425	D	0.04	-17.1021	11.4699	0.50261	0.0:0.9089:0.0:0.0911	.	200	Q96NG5	ZN558_HUMAN	I	200;129	ENSP00000301475:R200I;ENSP00000410703:R129I	ENSP00000301475:R200I	R	-	2	0	ZNF558	8783567	0.000000	0.05858	0.974000	0.42286	0.992000	0.81027	0.597000	0.24059	2.584000	0.87258	0.591000	0.81541	AGA		0.408	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		4	54	1	0	2.56e-06	1	2.86294e-06	4	54				
COBLL1	22837	broad.mit.edu	37	2	165551579	165551579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:165551579C>A	ENST00000392717.2	-	13	2555	c.2551G>T	c.(2551-2553)Gaa>Taa	p.E851*	COBLL1_ENST00000342193.4_Nonsense_Mutation_p.E813*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.E813*|COBLL1_ENST00000375458.2_Nonsense_Mutation_p.E775*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.E880*			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	851						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATGGCAGTTTCTTTCACATTC	0.418																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2323-2325)Gaa>Taa		cordon-bleu WH2 repeat protein-like 1							147.0	145.0	146.0					2																	165551579		2203	4300	6503	SO:0001587	stop_gained	22837							g.chr2:165551579C>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2551G>T	2.37:g.165551579C>A	ENSP00000376478:p.Glu851*					COBLL1_ENST00000409184.3_Nonsense_Mutation_p.E813*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.E813*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.E880*|COBLL1_ENST00000392717.2_Nonsense_Mutation_p.E851*	p.E775*	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2544	-			851					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Nonsense_Mutation	SNP	ENST00000392717.2	37	c.2323G>T		.	.	.	.	.	.	.	.	.	.	C	42	9.712095	0.99245	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.0229	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	X	775;813;813;851;880	.	ENSP00000194871:E880X	E	-	1	0	COBLL1	165259825	0.992000	0.36948	0.992000	0.48379	0.989000	0.77384	3.337000	0.52120	2.873000	0.98535	0.563000	0.77884	GAA		0.418	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		36	58	1	0	2.20474e-14	1	2.87106e-14	36	58				
CREBBP	1387	broad.mit.edu	37	16	3789684	3789684	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3789684C>T	ENST00000262367.5	-	25	4984	c.4175G>A	c.(4174-4176)cGa>cAa	p.R1392Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1354Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1392	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCTTTGGTTCGATATGGGAA	0.473			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4174-4176)cGa>cAa		CREB binding protein							82.0	76.0	78.0					16																	3789684		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3789684C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4175G>A	16.37:g.3789684C>T	ENSP00000262367:p.Arg1392Gln					CREBBP_ENST00000382070.3_Missense_Mutation_p.R1354Q	p.R1392Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	25	4984	-		Ovarian(90;0.0266)	1392			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4175G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.989285	0.93106	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93763	-3.28;-3.28	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	D	0.97046	0.9035	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.97115	0.9807	10	0.72032	D	0.01	-12.7816	19.8419	0.96692	0.0:1.0:0.0:0.0	.	1422;1392	Q4LE28;Q92793	.;CBP_HUMAN	Q	1392;1422;1354	ENSP00000262367:R1392Q;ENSP00000371502:R1354Q	ENSP00000262367:R1392Q	R	-	2	0	CREBBP	3729685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.713000	0.84693	2.767000	0.95098	0.561000	0.74099	CGA		0.473	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		17	43	0	0	0	1	0	17	43				
EPHA6	285220	broad.mit.edu	37	3	97198185	97198185	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97198185G>T	ENST00000514100.1	+	6	469	c.227G>T	c.(226-228)aGa>aTa	p.R76I	EPHA6_ENST00000389672.5_Missense_Mutation_p.R684I|EPHA6_ENST00000442602.2_Missense_Mutation_p.R50I|EPHA6_ENST00000502694.1_Missense_Mutation_p.R76I	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	590	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAGAAGAGAAGAAACCACTTA	0.333																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(2050-2052)aGa>aTa		EPH receptor A6							168.0	179.0	175.0					3																	97198185		1847	4094	5941	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97198185G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.227G>T	3.37:g.97198185G>T	ENSP00000421711:p.Arg76Ile					EPHA6_ENST00000502694.1_Missense_Mutation_p.R76I|EPHA6_ENST00000514100.1_Missense_Mutation_p.R76I|EPHA6_ENST00000442602.2_Missense_Mutation_p.R50I	p.R684I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			9	2089	+			589			Protein kinase.		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2051G>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.090265	0.76756	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;D;T;T	0.82619	-0.92;-1.63;-1.4;0.14	5.91	5.91	0.95273	.	.	.	.	.	D	0.90140	0.6919	L	0.61218	1.895	0.80722	D	1	D;P;D;D	0.76494	0.98;0.472;0.999;0.985	P;B;D;P	0.83275	0.564;0.113;0.996;0.69	D	0.86984	0.2106	9	0.30078	T	0.28	.	20.2936	0.98544	0.0:0.0:1.0:0.0	.	50;589;76;76	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	I	684;76;76;50	ENSP00000374323:R684I;ENSP00000421711:R76I;ENSP00000423950:R76I;ENSP00000403100:R50I	ENSP00000374323:R684I	R	+	2	0	EPHA6	98680875	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.741000	0.91583	2.801000	0.96364	0.655000	0.94253	AGA		0.333	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		3	13	1	0	0.00909568	1	0.00935351	3	13				
GPR110	266977	broad.mit.edu	37	6	46979827	46979827	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46979827A>C	ENST00000371253.2	-	10	1247	c.1032T>G	c.(1030-1032)aaT>aaG	p.N344K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.N147K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	344					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCGAAGCCAGATTCCCCACTG	0.483																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1030-1032)aaT>aaG		G protein-coupled receptor 110							197.0	153.0	168.0					6																	46979827		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46979827A>C	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1032T>G	6.37:g.46979827A>C	ENSP00000360299:p.Asn344Lys					GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.N147K	p.N344K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			10	1247	-			344					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1032T>G	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560750	0.45590	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.35421	1.31;1.31	6.06	-1.2	0.09554	.	0.267573	0.32503	N	0.006017	T	0.18341	0.0440	M	0.71581	2.175	0.27847	N	0.940894	P	0.39665	0.682	B	0.37239	0.244	T	0.19811	-1.0294	10	0.66056	D	0.02	-17.1955	11.3904	0.49811	0.3115:0.0:0.6885:0.0	.	344	Q5T601	GP110_HUMAN	K	344;344;147	ENSP00000360299:N344K;ENSP00000283297:N147K	ENSP00000283297:N147K	N	-	3	2	GPR110	47087786	0.425000	0.25498	0.995000	0.50966	0.412000	0.31113	-0.090000	0.11163	-0.122000	0.11766	-0.256000	0.11100	AAT		0.483	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		40	65	0	0	0	1	0	40	65				
FAM214A	56204	broad.mit.edu	37	15	52900777	52900777	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52900777A>C	ENST00000261844.7	-	6	2486	c.2334T>G	c.(2332-2334)aaT>aaG	p.N778K	FAM214A_ENST00000546305.2_Missense_Mutation_p.N785K	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	778																	ATACCTCTGTATTTTTTGGTT	0.318																																						ENST00000261844.7																			0											c.(2332-2334)aaT>aaG		family with sequence similarity 214, member A							126.0	121.0	123.0					15																	52900777		1807	4062	5869	SO:0001583	missense	56204							g.chr15:52900777A>C	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.2334T>G	15.37:g.52900777A>C	ENSP00000261844:p.Asn778Lys					FAM214A_ENST00000546305.2_Missense_Mutation_p.N785K	p.N778K	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	2486	-			778					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.2334T>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	9.612	1.131416	0.21041	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.33654	1.4;1.4	5.71	-0.477	0.12097	.	0.320787	0.36268	N	0.002683	T	0.26991	0.0661	L	0.40543	1.245	0.36987	D	0.894576	B;B	0.27971	0.196;0.124	B;B	0.30105	0.111;0.032	T	0.17471	-1.0368	10	0.42905	T	0.14	.	10.5723	0.45206	0.511:0.0:0.489:0.0	.	785;778	F5H8G0;Q32MH5	.;K1370_HUMAN	K	778;778;777;785	ENSP00000261844:N778K;ENSP00000443598:N785K	ENSP00000261844:N778K	N	-	3	2	KIAA1370	50688069	0.961000	0.32948	0.762000	0.31397	0.625000	0.37756	0.340000	0.19892	0.099000	0.17552	0.377000	0.23210	AAT		0.318	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		29	34	0	0	0	1	0	29	34				
DYNLRB1	83658	broad.mit.edu	37	20	33122566	33122566	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33122566C>T	ENST00000357156.2	+	3	264	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	DYNLRB1_ENST00000417166.2_Missense_Mutation_p.R72C|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.R124C|DYNLRB1_ENST00000480759.1_3'UTR	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	72					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.R72C(1)		endometrium(1)|large_intestine(1)|lung(1)	3						CCTTCGAATTCGCTCCAAGAA	0.527																																						ENST00000417166.2																			1	Substitution - Missense(1)	p.R72C(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(1)	3						c.(214-216)Cgc>Tgc		dynein, light chain, roadblock-type 1							103.0	84.0	91.0					20																	33122566		2203	4300	6503	SO:0001583	missense	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122566C>T	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.214C>T	20.37:g.33122566C>T	ENSP00000349679:p.Arg72Cys					DYNLRB1_ENST00000357156.2_Missense_Mutation_p.R72C|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.R124C	p.R72C			Q9NP97	DLRB1_HUMAN			3	247	+			72					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	c.214C>T	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648437	0.87958	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000374846	T;T;T	0.34859	1.34;1.34;1.34	5.06	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	.	.	.	0.80722	D	1	D;D	0.69078	0.997;0.982	D;P	0.63113	0.911;0.803	T	0.61778	-0.6993	9	0.87932	D	0	-9.0125	12.5373	0.56147	0.3026:0.6974:0.0:0.0	.	72;72	B4DFR2;Q9NP97	.;DLRB1_HUMAN	C	72;72;124	ENSP00000349679:R72C;ENSP00000409090:R72C;ENSP00000363979:R124C	ENSP00000349679:R72C	R	+	1	0	DYNLRB1	32586227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.760000	0.68793	1.351000	0.45789	0.655000	0.94253	CGC		0.527	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		31	48	0	0	0	1	0	31	48				
MYO5B	4645	broad.mit.edu	37	18	47404165	47404165	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:47404165C>T	ENST00000285039.7	-	25	3663	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	MYO5B_ENST00000324581.6_Missense_Mutation_p.G263R|MYO5B_ENST00000587895.1_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1122					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAGTGTCTCCGATCTCAGAT	0.507																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3364-3366)Gga>Aga		myosin VB							181.0	179.0	179.0					18																	47404165		1985	4169	6154	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47404165C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3364G>A	18.37:g.47404165C>T	ENSP00000285039:p.Gly1122Arg					MYO5B_ENST00000324581.6_Missense_Mutation_p.G263R	p.G1122R	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	25	3663	-			1122					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3364G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234388	0.79800	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.18338	2.22;2.22	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	N	0.08118	0	0.80722	D	1	P;D	0.89917	0.679;1.0	B;D	0.97110	0.111;1.0	T	0.26395	-1.0104	10	0.25106	T	0.35	.	19.8926	0.96935	0.0:1.0:0.0:0.0	.	1122;263	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	R	1122;263	ENSP00000285039:G1122R;ENSP00000315531:G263R	ENSP00000285039:G1122R	G	-	1	0	MYO5B	45658163	1.000000	0.71417	0.981000	0.43875	0.328000	0.28507	5.470000	0.66756	2.806000	0.96561	0.655000	0.94253	GGA		0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			31	47	0	0	0	1	0	31	47				
NLRP10	338322	broad.mit.edu	37	11	7982477	7982477	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982477C>T	ENST00000328600.2	-	2	843	c.682G>A	c.(682-684)Ggg>Agg	p.G228R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	228	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGATTGTCCCCGCAGCACCAG	0.522																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(682-684)Ggg>Agg		NLR family, pyrin domain containing 10							36.0	38.0	37.0					11																	7982477		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982477C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.682G>A	11.37:g.7982477C>T	ENSP00000327763:p.Gly228Arg						p.G228R	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	843	-			228			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.682G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347619	0.24426	.	.	ENSG00000182261	ENST00000328600	T	0.77750	-1.12	5.25	4.34	0.51931	NACHT nucleoside triphosphatase (1);	0.176777	0.27618	N	0.018569	T	0.77805	0.4185	L	0.32530	0.975	0.09310	N	1	D	0.63046	0.992	P	0.58660	0.843	T	0.69491	-0.5131	10	0.72032	D	0.01	.	10.211	0.43141	0.0:0.9074:0.0:0.0926	.	228	Q86W26	NAL10_HUMAN	R	228	ENSP00000327763:G228R	ENSP00000327763:G228R	G	-	1	0	NLRP10	7939053	0.001000	0.12720	0.462000	0.27118	0.004000	0.04260	0.875000	0.28079	1.369000	0.46134	0.655000	0.94253	GGG		0.522	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		17	36	0	0	0	1	0	17	36				
TMEM25	84866	broad.mit.edu	37	11	118404598	118404598	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118404598T>G	ENST00000313236.5	+	6	885	c.832T>G	c.(832-834)Tca>Gca	p.S278A	TMEM25_ENST00000359862.4_Missense_Mutation_p.S234A|TMEM25_ENST00000533102.1_Missense_Mutation_p.S278A|TMEM25_ENST00000411589.2_Missense_Mutation_p.S234A|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000544878.1_Missense_Mutation_p.S181A|TMEM25_ENST00000442938.2_Missense_Mutation_p.S234A|TMEM25_ENST00000524725.1_Missense_Mutation_p.S234A|TMEM25_ENST00000354284.4_Missense_Mutation_p.S278A|TMEM25_ENST00000354064.7_Missense_Mutation_p.S130A	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	278						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATCTCTGATATCAAGGTAACT	0.577																																						ENST00000524725.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13						c.(700-702)Tca>Gca		transmembrane protein 25							113.0	116.0	115.0					11																	118404598		2200	4295	6495	SO:0001583	missense	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118404598T>G	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.832T>G	11.37:g.118404598T>G	ENSP00000315635:p.Ser278Ala					TMEM25_ENST00000354284.4_Missense_Mutation_p.S278A|TMEM25_ENST00000544878.1_Missense_Mutation_p.S181A|TMEM25_ENST00000359862.4_Missense_Mutation_p.S234A|TMEM25_ENST00000442938.2_Missense_Mutation_p.S234A|TMEM25_ENST00000533102.1_Missense_Mutation_p.S278A|TMEM25_ENST00000354064.7_Missense_Mutation_p.S130A|TMEM25_ENST00000411589.2_Missense_Mutation_p.S234A|TMEM25_ENST00000313236.5_Missense_Mutation_p.S278A	p.S234A			Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	4	1112	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	278					A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	c.700T>G	CCDS8398.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	15.65|15.65|15.65	2.895777|2.895777|2.895777	0.52121|0.52121|0.52121	.|.|.	.|.|.	ENSG00000149582|ENSG00000149582|ENSG00000149582	ENST00000526853|ENST00000411589;ENST00000442938;ENST00000359862;ENST00000544878;ENST00000354284;ENST00000532762;ENST00000354064;ENST00000533102;ENST00000313236;ENST00000524725|ENST00000526973	T|T;T;T;T;T;T;T;T;T;T|.	0.43294|0.33654|.	0.95|2.06;1.96;2.06;1.47;2.19;1.49;1.4;2.16;2.2;2.06|.	5.89|5.89|5.89	5.89|5.89|5.89	0.94794|0.94794|0.94794	.|.|.	.|0.216169|.	.|0.42682|.	.|D|.	.|0.000667|.	T|T|.	0.49133|0.49133|.	0.1539|0.1539|.	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.46631|0.46631|0.46631	D|D|D	0.999132|0.999132|0.999132	.|P;B;P;D;P;P;B;D|.	.|0.56035|.	.|0.77;0.24;0.956;0.974;0.783;0.82;0.3;0.974|.	.|B;B;D;D;B;B;B;D|.	.|0.70487|.	.|0.28;0.141;0.931;0.969;0.356;0.254;0.197;0.969|.	T|T|.	0.46569|0.46569|.	-0.9182|-0.9182|.	7|10|.	0.87932|0.15499|.	D|T|.	0|0.54|.	-13.576|-13.576|-13.576	12.7041|12.7041|12.7041	0.57051|0.57051|0.57051	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|181;278;234;234;278;278;130;234|.	.|F5H294;Q86YD3;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-3;Q86YD3-2|.	.|.;TMM25_HUMAN;.;.;.;.;.;.|.	S|A|X	112|234;234;234;181;278;137;130;278;278;234|117	ENSP00000431145:I112S|ENSP00000411882:S234A;ENSP00000416071:S234A;ENSP00000352924:S234A;ENSP00000439408:S181A;ENSP00000346237:S278A;ENSP00000433906:S137A;ENSP00000278959:S130A;ENSP00000431548:S278A;ENSP00000315635:S278A;ENSP00000431205:S234A|.	ENSP00000431145:I112S|ENSP00000315635:S278A|.	I|S|Y	+|+|+	2|1|3	0|0|2	TMEM25|TMEM25|TMEM25	117909808|117909808|117909808	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.190000|0.190000|0.190000	0.23558|0.23558|0.23558	4.123000|4.123000|4.123000	0.57917|0.57917|0.57917	2.254000|2.254000|2.254000	0.74563|0.74563|0.74563	0.459000|0.459000|0.459000	0.35465|0.35465|0.35465	ATC|TCA|TAT		0.577	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		11	130	0	0	0	1	0	11	130				
HEATR5B	54497	broad.mit.edu	37	2	37235920	37235920	+	Silent	SNP	G	G	A	rs199872653		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37235920G>A	ENST00000233099.5	-	28	4451	c.4356C>T	c.(4354-4356)gaC>gaT	p.D1452D	HEATR5B_ENST00000354531.2_Silent_p.D1452D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1452						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATCATCATCGTCAGTATTTT	0.378																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(4354-4356)gaC>gaT		HEAT repeat containing 5B		G		0,4406		0,0,2203	306.0	265.0	279.0		4356	-1.1	1.0	2		279	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HEATR5B	NM_019024.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1452/2072	37235920	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37235920G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4356C>T	2.37:g.37235920G>A						HEATR5B_ENST00000354531.2_Silent_p.D1452D	p.D1452D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			28	4451	-		all_hematologic(82;0.21)	1452					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.4356C>T	CCDS33181.1																																																																																				0.378	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		55	88	0	0	0	1	0	55	88				
OR51E2	81285	broad.mit.edu	37	11	4703813	4703813	+	Silent	SNP	G	G	T	rs574634498		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4703813G>T	ENST00000396950.3	-	2	368	c.129C>A	c.(127-129)atC>atA	p.I43I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	43					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAGACCACGATGCAGTTTC	0.507																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(127-129)atC>atA		olfactory receptor, family 51, subfamily E, member 2							107.0	94.0	98.0					11																	4703813		2201	4298	6499	SO:0001819	synonymous_variant	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703813G>T	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.129C>A	11.37:g.4703813G>T							p.I43I	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	368	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	43					B2RA63|Q6IF94	Silent	SNP	ENST00000396950.3	37	c.129C>A	CCDS7751.1																																																																																				0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		35	67	1	0	9.65963e-10	1	1.17364e-09	35	67				
FOCAD	54914	broad.mit.edu	37	9	20740310	20740310	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:20740310A>C	ENST00000380249.1	+	7	727	c.363A>C	c.(361-363)gaA>gaC	p.E121D	FOCAD_ENST00000338382.6_Missense_Mutation_p.E121D	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	121						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AAGGTGGGGAAAAGAATATTC	0.289																																						ENST00000380249.1																			0											c.(361-363)gaA>gaC		focadhesin							84.0	85.0	85.0					9																	20740310		2203	4299	6502	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20740310A>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.363A>C	9.37:g.20740310A>C	ENSP00000369599:p.Glu121Asp					FOCAD_ENST00000338382.6_Missense_Mutation_p.E121D	p.E121D	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			7	727	+			121					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.363A>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	5.305	0.241703	0.10077	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.23754	1.89;1.89	5.43	0.205	0.15204	Domain of unknown function DUF3730 (1);	0.485574	0.22147	N	0.063967	T	0.11750	0.0286	N	0.17082	0.46	0.26368	N	0.97694	B	0.09022	0.002	B	0.09377	0.004	T	0.19549	-1.0302	10	0.27082	T	0.32	-13.394	4.9733	0.14127	0.3878:0.0:0.4771:0.1351	.	121	Q5VW36	K1797_HUMAN	D	121	ENSP00000369599:E121D;ENSP00000344307:E121D	ENSP00000344307:E121D	E	+	3	2	KIAA1797	20730310	0.990000	0.36364	0.753000	0.31225	0.358000	0.29455	0.066000	0.14489	0.015000	0.14971	-0.337000	0.08149	GAA		0.289	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		19	34	0	0	0	1	0	19	34				
GPN3	51184	broad.mit.edu	37	12	110902914	110902914	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110902914C>A	ENST00000228827.3	-	2	216	c.154G>T	c.(154-156)Gct>Tct	p.A52S	GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000537466.2_Missense_Mutation_p.A62S|GPN3_ENST00000543199.1_Missense_Mutation_p.A91S	NM_016301.3	NP_057385.3			GPN-loop GTPase 3											endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						GACTTACCAGCCATCACGGAG	0.522																																						ENST00000543199.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						c.(271-273)Gct>Tct		GPN-loop GTPase 3							150.0	119.0	130.0					12																	110902914		2203	4300	6503	SO:0001583	missense	51184					protein complex	GTP binding	g.chr12:110902914C>A	BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"""GPN-loop GTPases"""	30186	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member C"""	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.154G>T	12.37:g.110902914C>A	ENSP00000228827:p.Ala52Ser					GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000537466.2_Missense_Mutation_p.A62S|GPN3_ENST00000228827.3_Missense_Mutation_p.A52S	p.A91S	NM_001164372.1	NP_001157844.1	Q9UHW5	GPN3_HUMAN			2	355	-			52						Missense_Mutation	SNP	ENST00000228827.3	37	c.271G>T	CCDS9147.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521216	0.85600	.	.	ENSG00000111231	ENST00000228827;ENST00000543199;ENST00000537466;ENST00000550974	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.76	5.76	0.90799	.	0.046223	0.85682	D	0.000000	T	0.32852	0.0843	M	0.67953	2.075	0.80722	D	1	B;B	0.27140	0.079;0.169	B;B	0.34242	0.071;0.178	T	0.06643	-1.0815	10	0.54805	T	0.06	.	19.9772	0.97314	0.0:1.0:0.0:0.0	.	62;52	Q9UHW5-2;Q9UHW5	.;GPN3_HUMAN	S	52;91;62;30	ENSP00000228827:A52S;ENSP00000442770:A91S;ENSP00000443068:A62S;ENSP00000447480:A30S	ENSP00000228827:A52S	A	-	1	0	GPN3	109387297	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.294000	0.78760	2.724000	0.93272	0.563000	0.77884	GCT		0.522	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404607.1	NM_016301		15	31	1	0	4.7546e-09	1	5.67505e-09	15	31				
CLCN6	1185	broad.mit.edu	37	1	11888619	11888619	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11888619T>C	ENST00000346436.6	+	12	1111	c.1059T>C	c.(1057-1059)tgT>tgC	p.C353C	CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376487.3_Silent_p.C331C|CLCN6_ENST00000376496.3_Silent_p.C353C|CLCN6_ENST00000376492.3_Intron	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	353					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCAACTGTCTGAACAAGA	0.542																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1057-1059)tgT>tgC		chloride channel, voltage-sensitive 6							177.0	188.0	184.0					1																	11888619		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11888619T>C	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1059T>C	1.37:g.11888619T>C						CLCN6_ENST00000376496.3_Silent_p.C353C|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376487.3_Silent_p.C331C|CLCN6_ENST00000376492.3_Intron	p.C353C	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1111	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	353					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.1059T>C	CCDS138.1																																																																																				0.542	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		101	189	0	0	0	1	0	101	189				
ABL1	25	broad.mit.edu	37	9	133748273	133748273	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133748273T>C	ENST00000318560.5	+	6	1315	c.934T>C	c.(934-936)Tat>Cat	p.Y312H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCCCCCGTTCTATATCATCAC	0.557			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(934-936)Tat>Cat		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						81.0	82.0	82.0					9																	133748273		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133748273T>C	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.934T>C	9.37:g.133748273T>C	ENSP00000323315:p.Tyr312His						p.Y312H	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	6	1315	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	312			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.934T>C	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	T	33	5.204360	0.95033	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.65732	-0.17;-0.17	6.04	6.04	0.98038	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77887	-0.2420	10	0.87932	D	0	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	312;349	P00519;Q59FK4	ABL1_HUMAN;.	H	127;331;312	ENSP00000361423:Y331H;ENSP00000323315:Y312H	ENSP00000323315:Y312H	Y	+	1	0	ABL1	132738094	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	TAT		0.557	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		17	70	0	0	0	1	0	17	70				
EVA1C	59271	broad.mit.edu	37	21	33829907	33829907	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33829907G>T	ENST00000300255.2	+	3	833	c.360G>T	c.(358-360)aaG>aaT	p.K120N	EVA1C_ENST00000382699.3_Missense_Mutation_p.K120N|EVA1C_ENST00000401402.3_Missense_Mutation_p.K120N	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	120	SUEL-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00260}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										CCTTCTAGAAGGTGCTGGACG	0.557																																						ENST00000300255.2																			0											c.(358-360)aaG>aaT		eva-1 homolog C (C. elegans)							95.0	85.0	89.0					21																	33829907		2203	4300	6503	SO:0001583	missense	59271							g.chr21:33829907G>T	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.360G>T	21.37:g.33829907G>T	ENSP00000300255:p.Lys120Asn					EVA1C_ENST00000382699.3_Missense_Mutation_p.K120N|EVA1C_ENST00000401402.3_Missense_Mutation_p.K120N	p.K120N	NM_058187.3	NP_478067.2					3	833	+								A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.360G>T	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944728	0.73672	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699;ENST00000412833	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.07	1.81	0.25067	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	M	0.85710	2.77	0.49915	D	0.999837	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.11084	-1.0602	10	0.54805	T	0.06	-3.5426	5.481	0.16723	0.6005:0.0:0.3995:0.0	.	120;120;120	A6ND58;P58658;B5MC74	.;CU063_HUMAN;.	N	120;120;120;25	ENSP00000300255:K120N;ENSP00000384594:K120N;ENSP00000372146:K120N;ENSP00000389269:K25N	ENSP00000300255:K120N	K	+	3	2	C21orf63	32751778	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.626000	0.54245	0.537000	0.28751	0.462000	0.41574	AAG		0.557	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		33	43	1	0	3.11337e-16	1	4.1367e-16	33	43				
FAM217B	63939	broad.mit.edu	37	20	58519545	58519545	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58519545G>T	ENST00000358293.3	+	5	962	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.D183Y	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	183																	GAAGTATATCGATAGACTTAT	0.547																																						ENST00000358293.3																			0											c.(547-549)Gat>Tat		family with sequence similarity 217, member B							47.0	49.0	48.0					20																	58519545		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58519545G>T	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.547G>T	20.37:g.58519545G>T	ENSP00000351040:p.Asp183Tyr					FAM217B_ENST00000360816.3_Missense_Mutation_p.D183Y|FAM217B_ENST00000469084.1_3'UTR	p.D183Y	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	962	+			183					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.547G>T	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149180	0.78001	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.26067	1.76;1.76	5.8	5.8	0.92144	.	0.070700	0.53938	D	0.000045	T	0.51058	0.1652	L	0.59436	1.845	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.46555	-0.9183	10	0.72032	D	0.01	-28.3378	20.063	0.97692	0.0:0.0:1.0:0.0	.	183	Q9NTX9	CT177_HUMAN	Y	183	ENSP00000351040:D183Y;ENSP00000354056:D183Y	ENSP00000351040:D183Y	D	+	1	0	C20orf177	57952940	1.000000	0.71417	0.103000	0.21229	0.430000	0.31655	5.120000	0.64685	2.735000	0.93741	0.655000	0.94253	GAT		0.547	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		24	43	1	0	3.5997e-14	1	4.67138e-14	24	43				
XYLT1	64131	broad.mit.edu	37	16	17353254	17353254	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:17353254G>A	ENST00000261381.6	-	3	588	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	168					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTGGGTGCGAAGTTGCTGT	0.498																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(502-504)ttC>ttT		xylosyltransferase I							132.0	123.0	126.0					16																	17353254		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353254G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.504C>T	16.37:g.17353254G>A							p.F168F	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			3	588	-			168					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.504C>T	CCDS10569.1																																																																																				0.498	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		45	69	0	0	0	1	0	45	69				
TCP11L1	55346	broad.mit.edu	37	11	33083232	33083232	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33083232A>C	ENST00000334274.4	+	7	1332	c.932A>C	c.(931-933)aAg>aCg	p.K311T	TCP11L1_ENST00000432887.1_Missense_Mutation_p.K311T|TCP11L1_ENST00000531632.2_Missense_Mutation_p.K311T|TCP11L1_ENST00000324357.9_Missense_Mutation_p.K90T	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	311						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						GCTTACCTGAAGCTTCTGAAG	0.527																																						ENST00000334274.4																			0				kidney(1)|liver(2)|lung(2)|skin(1)	6						c.(931-933)aAg>aCg		t-complex 11, testis-specific-like 1							40.0	37.0	38.0					11																	33083232		2202	4298	6500	SO:0001583	missense	55346							g.chr11:33083232A>C	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.932A>C	11.37:g.33083232A>C	ENSP00000335595:p.Lys311Thr					TCP11L1_ENST00000531632.2_Missense_Mutation_p.K311T|TCP11L1_ENST00000432887.1_Missense_Mutation_p.K311T|TCP11L1_ENST00000324357.9_Missense_Mutation_p.K90T	p.K311T	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN			7	1332	+			311					D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	c.932A>C	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735778	0.49045	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.42	0.453	0.16639	.	0.342101	0.35013	N	0.003506	T	0.17408	0.0418	M	0.78637	2.42	0.43259	D	0.995197	P	0.47841	0.901	P	0.44732	0.459	T	0.02020	-1.1228	10	0.72032	D	0.01	-31.0294	5.208	0.15300	0.6757:0.0:0.203:0.1213	.	311	Q9NUJ3	T11L1_HUMAN	T	311;311;311;90	ENSP00000335595:K311T;ENSP00000433067:K311T;ENSP00000395070:K311T;ENSP00000316279:K90T	ENSP00000316279:K90T	K	+	2	0	TCP11L1	33039808	1.000000	0.71417	0.992000	0.48379	0.184000	0.23303	2.502000	0.45398	-0.174000	0.10743	0.528000	0.53228	AAG		0.527	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		8	28	0	0	0	1	0	8	28				
FBXO3	26273	broad.mit.edu	37	11	33763477	33763477	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33763477G>A	ENST00000265651.3	-	11	1411	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000531080.1_Missense_Mutation_p.R152C|FBXO3_ENST00000532057.1_Missense_Mutation_p.R152C|FBXO3_ENST00000526785.1_Missense_Mutation_p.R352C	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	465	Poly-Arg.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GAGCAGCGGCGTCTGCGAATG	0.428																																						ENST00000526785.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(1054-1056)Cgc>Tgc		F-box protein 3							203.0	161.0	175.0					11																	33763477		2202	4298	6500	SO:0001583	missense	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33763477G>A	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1393C>T	11.37:g.33763477G>A	ENSP00000265651:p.Arg465Cys					FBXO3_ENST00000532057.1_Missense_Mutation_p.R152C|FBXO3_ENST00000531080.1_Missense_Mutation_p.R152C|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000265651.3_Missense_Mutation_p.R465C	p.R352C			Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	10	4805	-		Lung NSC(402;0.0804)	465			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	c.1054C>T	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314064	0.40996	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T	0.49139	0.79;0.79	4.78	3.78	0.43462	.	0.126562	0.50627	D	0.000103	T	0.28830	0.0715	N	0.14661	0.345	0.80722	D	1	D	0.63880	0.993	B	0.41135	0.348	T	0.09640	-1.0665	10	0.48119	T	0.1	-7.9668	10.8936	0.47010	0.0:0.3381:0.6619:0.0	.	465	Q9UK99	FBX3_HUMAN	C	352;465;152;152	ENSP00000435680:R352C;ENSP00000265651:R465C	ENSP00000265651:R465C	R	-	1	0	FBXO3	33720053	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.888000	0.39708	2.339000	0.79563	0.561000	0.74099	CGC		0.428	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		15	44	0	0	0	1	0	15	44				
TNIP3	79931	broad.mit.edu	37	4	122071311	122071311	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122071311C>A	ENST00000509841.1	-	9	865	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	TNIP3_ENST00000511909.1_5'Flank|TNIP3_ENST00000057513.3_Missense_Mutation_p.V186L|TNIP3_ENST00000454328.1_Missense_Mutation_p.V186L|TNIP3_ENST00000507879.1_Missense_Mutation_p.V256L	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CAGAATTCCACTCGAGACTTC	0.438																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(556-558)Gtg>Ttg		TNFAIP3 interacting protein 3							117.0	101.0	106.0					4																	122071311		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122071311C>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.787G>T	4.37:g.122071311C>A	ENSP00000426613:p.Val263Leu					TNIP3_ENST00000507879.1_Missense_Mutation_p.V256L|TNIP3_ENST00000057513.3_Missense_Mutation_p.V186L|TNIP3_ENST00000509841.1_Missense_Mutation_p.V263L	p.V186L			Q96KP6	TNIP3_HUMAN			8	783	-			186						Missense_Mutation	SNP	ENST00000509841.1	37	c.556G>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	4.270	0.049199	0.08243	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.35	-2.36	0.06663	.	1.165620	0.06252	N	0.692318	T	0.35799	0.0944	L	0.36672	1.1	0.09310	N	1	B;B	0.18968	0.001;0.032	B;B	0.14023	0.003;0.01	T	0.15407	-1.0438	10	0.30078	T	0.28	1.6244	2.4584	0.04535	0.1509:0.431:0.1542:0.2638	.	256;186	B4DVF5;Q96KP6	.;TNIP3_HUMAN	L	186;186;256;263	ENSP00000057513:V186L;ENSP00000411817:V186L;ENSP00000427106:V256L;ENSP00000426613:V263L	ENSP00000057513:V186L	V	-	1	0	TNIP3	122290761	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.067000	0.11579	-0.606000	0.05746	0.585000	0.79938	GTG		0.438	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		18	27	1	0	2.5808e-16	1	3.43231e-16	18	27				
TAF15	8148	broad.mit.edu	37	17	34163181	34163181	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34163181G>T	ENST00000588240.1	+	10	834	c.719G>T	c.(718-720)gGa>gTa	p.G240V	TAF15_ENST00000592237.1_Missense_Mutation_p.G149V|TAF15_ENST00000311979.3_Missense_Mutation_p.G237V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTTGTGCAAGGACTTGGGGAG	0.318			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(718-720)gGa>gTa		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							86.0	87.0	87.0					17																	34163181		2203	4299	6502	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34163181G>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.719G>T	17.37:g.34163181G>T	ENSP00000466950:p.Gly240Val					TAF15_ENST00000311979.3_Missense_Mutation_p.G237V|TAF15_ENST00000592237.1_Missense_Mutation_p.G149V	p.G240V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	10	834	+		Ovarian(249;0.17)	240			RRM.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.719G>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267708	0.80469	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	5.46	5.46	0.80206	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	D	0.87402	0.6168	H	0.95260	3.645	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.993	D	0.90701	0.4620	8	0.87932	D	0	-6.3391	17.1738	0.86836	0.0:0.0:1.0:0.0	.	240;237	Q92804;Q92804-2	RBP56_HUMAN;.	V	240;43	.	ENSP00000309558:G240V	G	+	2	0	TAF15	31187294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.726000	0.93360	0.655000	0.94253	GGA		0.318	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		16	24	1	0	5.03518e-11	1	6.23768e-11	16	24				
ZNF227	7770	broad.mit.edu	37	19	44740349	44740349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44740349C>A	ENST00000313040.7	+	6	1971	c.1766C>A	c.(1765-1767)tCa>tAa	p.S589*	ZNF227_ENST00000589005.1_Nonsense_Mutation_p.S538*|ZNF227_ENST00000391961.2_Nonsense_Mutation_p.S538*|ZNF235_ENST00000589799.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AGTTGGAGATCAAATCTTCAT	0.388																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(1765-1767)tCa>tAa		zinc finger protein 227							65.0	66.0	66.0					19																	44740349		2203	4300	6503	SO:0001587	stop_gained	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740349C>A	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1766C>A	19.37:g.44740349C>A	ENSP00000321049:p.Ser589*					ZNF227_ENST00000391961.2_Nonsense_Mutation_p.S538*|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.S538*|ZNF235_ENST00000589799.1_3'UTR	p.S589*	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	1971	+		Prostate(69;0.0435)	589					B3KRU7|B7Z5P9	Nonsense_Mutation	SNP	ENST00000313040.7	37	c.1766C>A	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	C	37	6.064882	0.97251	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.798	0.78428	0.0:1.0:0.0:0.0	.	.	.	.	X	589;546;538;568	.	ENSP00000321049:S589X	S	+	2	0	ZNF227	49432189	0.000000	0.05858	0.526000	0.27913	0.982000	0.71751	-0.032000	0.12266	2.076000	0.62316	0.557000	0.71058	TCA		0.388	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		33	35	1	0	4.74835e-14	1	6.14782e-14	33	35				
ATP1B3	483	broad.mit.edu	37	3	141644523	141644523	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141644523A>C	ENST00000286371.3	+	7	1008	c.820A>C	c.(820-822)Aaa>Caa	p.K274Q	ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000462082.1_Missense_Mutation_p.K84Q	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	274	immunoglobulin-like. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						AGTTATGTTCAAAATCACAGC	0.403																																						ENST00000286371.3																			0				cervix(1)|endometrium(1)|lung(2)	4						c.(820-822)Aaa>Caa		ATPase, Na+/K+ transporting, beta 3 polypeptide							198.0	172.0	181.0					3																	141644523		2203	4300	6503	SO:0001583	missense	483				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr3:141644523A>C	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.820A>C	3.37:g.141644523A>C	ENSP00000286371:p.Lys274Gln					ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000462082.1_Missense_Mutation_p.K84Q	p.K274Q	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN			7	1008	+			274					B7Z1N7	Missense_Mutation	SNP	ENST00000286371.3	37	c.820A>C	CCDS3121.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894076	0.52121	.	.	ENSG00000069849	ENST00000286371;ENST00000462082	T;T	0.36157	1.27;1.27	5.96	5.96	0.96718	.	0.084306	0.85682	D	0.000000	T	0.53850	0.1822	M	0.72576	2.205	0.80722	D	1	D;P	0.53745	0.962;0.898	P;P	0.55615	0.78;0.544	T	0.52253	-0.8600	10	0.39692	T	0.17	-16.529	16.4484	0.83959	1.0:0.0:0.0:0.0	.	260;274	D3DNF9;P54709	.;AT1B3_HUMAN	Q	274;84	ENSP00000286371:K274Q;ENSP00000418353:K84Q	ENSP00000286371:K274Q	K	+	1	0	ATP1B3	143127213	1.000000	0.71417	0.845000	0.33349	0.096000	0.18686	6.101000	0.71479	2.285000	0.76669	0.533000	0.62120	AAA		0.403	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	NM_001679		49	110	0	0	0	1	0	49	110				
EXOC6B	23233	broad.mit.edu	37	2	72740314	72740314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:72740314C>A	ENST00000272427.6	-	11	1244	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	EXOC6B_ENST00000410104.1_Nonsense_Mutation_p.E372*	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	372					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCCCACAGTTCATCAATGTAG	0.408																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(1114-1116)Gaa>Taa		exocyst complex component 6B							137.0	131.0	133.0					2																	72740314		1876	4107	5983	SO:0001587	stop_gained	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72740314C>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1114G>T	2.37:g.72740314C>A	ENSP00000272427:p.Glu372*					EXOC6B_ENST00000410104.1_Nonsense_Mutation_p.E372*	p.E372*	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			11	1244	-			372					B8ZZY3	Nonsense_Mutation	SNP	ENST00000272427.6	37	c.1114G>T	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	39	7.643233	0.98406	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	17.5901	0.87993	0.0:1.0:0.0:0.0	.	.	.	.	X	372	.	ENSP00000272427:E372X	E	-	1	0	EXOC6B	72593822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.531000	0.81973	2.734000	0.93682	0.563000	0.77884	GAA		0.408	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		21	30	1	0	6.33239e-15	1	8.29613e-15	21	30				
TTN	7273	broad.mit.edu	37	2	179596486	179596486	+	Missense_Mutation	SNP	C	C	T	rs376593556		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179596486C>T	ENST00000591111.1	-	56	16389	c.16165G>A	c.(16165-16167)Gaa>Aaa	p.E5389K	TTN_ENST00000589042.1_Missense_Mutation_p.E5706K|TTN_ENST00000342992.6_Missense_Mutation_p.E4462K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12208	Ig-like 34.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E4462K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGGTATTCGCCAGCATCT	0.488																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.E4462K(1)	endometrium(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17116-17118)Gaa>Aaa		titin		C	,,,LYS/GLU	2,3896		0,2,1947	103.0	104.0	104.0		,,,13384	5.1	0.9	2		104	0,8292		0,0,4146	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,56	0,2,6093	TT,TC,CC		0.0,0.0513,0.0164	,,,benign	,,,4462/33424	179596486	2,12188	1949	4146	6095	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596486C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16165G>A	2.37:g.179596486C>T	ENSP00000465570:p.Glu5389Lys					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4462K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5389K	p.E5706K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		58	17340	-			5389			Ig-like 38.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.17116G>A		.	.	.	.	.	.	.	.	.	.	C	10.51	1.370646	0.24771	5.13E-4	0.0	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.93	5.06	0.68205	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52484	0.1737	L	0.31420	0.93	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.51004	-0.8760	9	0.87932	D	0	.	15.1585	0.72761	0.0:0.9328:0.0:0.0672	.	5389	Q8WZ42	TITIN_HUMAN	K	4462	ENSP00000343764:E4462K	ENSP00000343764:E4462K	E	-	1	0	TTN	179304731	0.010000	0.17322	0.918000	0.36340	0.955000	0.61496	0.419000	0.21247	1.536000	0.49237	0.655000	0.94253	GAA		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	85	0	0	0	1	0	41	85				
MND1	84057	broad.mit.edu	37	4	154271250	154271250	+	Missense_Mutation	SNP	G	G	T	rs557910209		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:154271250G>T	ENST00000240488.3	+	2	127	c.38G>T	c.(37-39)aGa>aTa	p.R13I	MND1_ENST00000503967.1_3'UTR|MND1_ENST00000504860.1_5'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1			meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GAAGAAAAGAGAACTCGCATG	0.279																																						ENST00000240488.3																			0				large_intestine(2)|lung(1)	3						c.(37-39)aGa>aTa		meiotic nuclear divisions 1 homolog (S. cerevisiae)							73.0	79.0	77.0					4																	154271250		2203	4300	6503	SO:0001583	missense	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154271250G>T	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000240488.3:c.38G>T	4.37:g.154271250G>T	ENSP00000240488:p.Arg13Ile					MND1_ENST00000504860.1_5'UTR|MND1_ENST00000503967.1_3'UTR	p.R13I	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN			2	127	+	all_hematologic(180;0.093)		13						Missense_Mutation	SNP	ENST00000240488.3	37	c.38G>T	CCDS3782.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092878	0.94149	.	.	ENSG00000121211	ENST00000240488	.	.	.	5.6	5.6	0.85130	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87750	0.2591	9	0.62326	D	0.03	-34.7401	19.2161	0.93778	0.0:0.0:1.0:0.0	.	13	Q9BWT6	MND1_HUMAN	I	13	.	ENSP00000240488:R13I	R	+	2	0	MND1	154490700	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	8.946000	0.92992	2.627000	0.88993	0.655000	0.94253	AGA		0.279	MND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365194.2	NM_032117		10	39	1	0	4.68919e-08	1	5.48405e-08	10	39				
CA5B	11238	broad.mit.edu	37	X	15800776	15800776	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15800776G>A	ENST00000318636.3	+	8	1079	c.943G>A	c.(943-945)Gca>Aca	p.A315T	CA5B_ENST00000454127.2_Missense_Mutation_p.A315T	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CACCAGCCAAGCAACCCCCTA	0.438																																						ENST00000318636.3																			0				endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(943-945)Gca>Aca		carbonic anhydrase VB, mitochondrial							78.0	71.0	74.0					X																	15800776		2203	4300	6503	SO:0001583	missense	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15800776G>A	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.943G>A	X.37:g.15800776G>A	ENSP00000314099:p.Ala315Thr					CA5B_ENST00000454127.2_Missense_Mutation_p.A315T	p.A315T	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN			8	1079	+	Hepatocellular(33;0.183)		315					A6NEZ4	Missense_Mutation	SNP	ENST00000318636.3	37	c.943G>A	CCDS14171.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272472	0.40194	.	.	ENSG00000169239	ENST00000318636;ENST00000454127	T;T	0.69175	-0.38;-0.38	5.39	1.56	0.23342	.	1.739780	0.02554	N	0.095944	T	0.47210	0.1433	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38243	-0.9670	10	0.52906	T	0.07	6.0E-4	4.8064	0.13323	0.3559:0.1533:0.4908:0.0	.	315	Q9Y2D0	CAH5B_HUMAN	T	315	ENSP00000314099:A315T;ENSP00000417021:A315T	ENSP00000314099:A315T	A	+	1	0	CA5B	15710697	0.150000	0.22732	0.040000	0.18447	0.229000	0.25112	0.818000	0.27295	0.194000	0.20326	0.600000	0.82982	GCA		0.438	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		18	59	0	0	0	1	0	18	59				
BRWD3	254065	broad.mit.edu	37	X	79932799	79932799	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79932799C>A	ENST00000373275.4	-	41	4934	c.4718G>T	c.(4717-4719)aGa>aTa	p.R1573I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1573					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAGTAGTTTTCTCTTGATTCC	0.368																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4717-4719)aGa>aTa		bromodomain and WD repeat domain containing 3							44.0	41.0	42.0					X																	79932799		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932799C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4718G>T	X.37:g.79932799C>A	ENSP00000362372:p.Arg1573Ile					BRWD3_ENST00000473691.1_5'UTR	p.R1573I	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	4934	-			1573					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4718G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945639	0.53079	.	.	ENSG00000165288	ENST00000373275	T	0.59502	0.26	4.22	4.22	0.49857	.	0.123452	0.53938	D	0.000057	T	0.67795	0.2931	L	0.47190	1.495	0.58432	D	0.999995	D	0.61697	0.99	D	0.66497	0.944	T	0.67496	-0.5656	9	.	.	.	-12.2099	15.9652	0.79966	0.0:1.0:0.0:0.0	.	1573	Q6RI45	BRWD3_HUMAN	I	1573	ENSP00000362372:R1573I	.	R	-	2	0	BRWD3	79819455	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	5.090000	0.64498	1.930000	0.55929	0.506000	0.49869	AGA		0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		16	18	1	0	2.23348e-06	1	2.50077e-06	16	18				
WBP11P1	441818	broad.mit.edu	37	18	30093424	30093424	+	RNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:30093424A>G	ENST00000567636.1	+	0	1799					NR_003558.1				WW domain binding protein 11 pseudogene 1																		GAACCCTGAGATTTTAAGTGC	0.542																																						ENST00000567636.1																			0																																																			0							g.chr18:30093424A>G	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30093424A>G								NR_003558.1						0	1799	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.542	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			52	100	0	0	0	1	0	52	100				
SGMS1	259230	broad.mit.edu	37	10	52066985	52066985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52066985G>A	ENST00000361781.2	-	11	2118	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	SGMS1_ENST00000429490.1_Nonsense_Mutation_p.R218*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	393					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.R387*(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTAAGATCGAGGTACAATT	0.493																																						ENST00000361781.2																			1	Substitution - Nonsense(1)	p.R387*(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1159-1161)Cga>Tga		sphingomyelin synthase 1							123.0	107.0	112.0					10																	52066985		2203	4300	6503	SO:0001587	stop_gained	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52066985G>A	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.1159C>T	10.37:g.52066985G>A	ENSP00000354829:p.Arg387*					SGMS1_ENST00000429490.1_Nonsense_Mutation_p.R218*	p.R387*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN			11	2118	-			393					Q68U43|Q6EKK0|Q75SP1	Nonsense_Mutation	SNP	ENST00000361781.2	37	c.1159C>T	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427336	0.43122	.	.	ENSG00000198964	ENST00000412547;ENST00000361781;ENST00000429490	.	.	.	5.58	4.68	0.58851	.	0.065062	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-9.5426	8.6492	0.34025	0.1716:0.0:0.8284:0.0	.	.	.	.	X	187;387;218	.	ENSP00000354829:R387X	R	-	1	2	SGMS1	51736991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.287000	0.72671	1.494000	0.48533	0.655000	0.94253	CGA		0.493	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		21	29	0	0	0	1	0	21	29				
LRBA	987	broad.mit.edu	37	4	151765812	151765812	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151765812T>C	ENST00000357115.3	-	27	4702	c.4459A>G	c.(4459-4461)Aag>Gag	p.K1487E	LRBA_ENST00000507224.1_Missense_Mutation_p.K1487E|LRBA_ENST00000535741.1_Missense_Mutation_p.K1487E|LRBA_ENST00000510413.1_Missense_Mutation_p.K1487E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1487						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATACTTACCTTCGCTGCAGAT	0.323																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4459-4461)Aag>Gag		LPS-responsive vesicle trafficking, beach and anchor containing							104.0	96.0	98.0					4																	151765812		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151765812T>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4459A>G	4.37:g.151765812T>C	ENSP00000349629:p.Lys1487Glu					LRBA_ENST00000510413.1_Missense_Mutation_p.K1487E|LRBA_ENST00000507224.1_Missense_Mutation_p.K1487E|LRBA_ENST00000357115.3_Missense_Mutation_p.K1487E	p.K1487E			P50851	LRBA_HUMAN			27	4932	-	all_hematologic(180;0.151)		1487					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4459A>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.599466	0.66332	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224;ENST00000502839	T;T;T;T	0.58940	0.72;0.87;0.72;0.3	5.19	5.19	0.71726	.	0.428104	0.25628	N	0.029363	T	0.68997	0.3062	L	0.46741	1.465	0.45205	D	0.998218	D;B	0.69078	0.997;0.225	D;B	0.73380	0.98;0.078	T	0.67612	-0.5626	10	0.37606	T	0.19	.	15.3587	0.74453	0.0:0.0:0.0:1.0	.	1487;1487	P50851;P50851-2	LRBA_HUMAN;.	E	1487;1487;1487;1487;64	ENSP00000446299:K1487E;ENSP00000421552:K1487E;ENSP00000349629:K1487E;ENSP00000422180:K1487E	ENSP00000349629:K1487E	K	-	1	0	LRBA	151985262	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.601000	0.61090	2.089000	0.63090	0.528000	0.53228	AAG		0.323	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			15	21	0	0	0	1	0	15	21				
UBIAD1	29914	broad.mit.edu	37	1	11346072	11346072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11346072C>T	ENST00000376810.5	+	2	1227	c.901C>T	c.(901-903)Cga>Tga	p.R301*	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	301					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAGACAGTTTCGAAGCCAGGC	0.567																																						ENST00000376810.5																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12						c.(901-903)Cga>Tga		UbiA prenyltransferase domain containing 1							143.0	130.0	134.0					1																	11346072		2203	4300	6503	SO:0001587	stop_gained	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11346072C>T		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.901C>T	1.37:g.11346072C>T	ENSP00000366006:p.Arg301*					UBIAD1_ENST00000376804.2_Intron	p.R301*	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	2	1227	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	301					B3KQG3|Q53GX3|Q5THD4	Nonsense_Mutation	SNP	ENST00000376810.5	37	c.901C>T	CCDS129.1	.	.	.	.	.	.	.	.	.	.	C	38	7.192777	0.98125	.	.	ENSG00000120942	ENST00000376810	.	.	.	6.07	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.071	10.5971	0.45345	0.2028:0.7261:0.0:0.071	.	.	.	.	X	301	.	ENSP00000366006:R301X	R	+	1	2	UBIAD1	11268659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.120000	0.41968	1.582000	0.49881	0.585000	0.79938	CGA		0.567	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		59	123	0	0	0	1	0	59	123				
TLR2	7097	broad.mit.edu	37	4	154625574	154625574	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:154625574A>C	ENST00000260010.6	+	1	2923	c.1515A>C	c.(1513-1515)aaA>aaC	p.K505N		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	505					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TAGTATTGAAAATCAGTAGGA	0.378																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1513-1515)aaA>aaC		toll-like receptor 2							68.0	72.0	70.0					4																	154625574		2202	4300	6502	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625574A>C	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1515A>C	4.37:g.154625574A>C	ENSP00000260010:p.Lys505Asn						p.K505N	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	2923	+	all_hematologic(180;0.093)	Renal(120;0.117)	505					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1515A>C	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	A	0.039	-1.290762	0.01375	.	.	ENSG00000137462	ENST00000260010	T	0.54479	0.57	5.21	-8.77	0.00827	.	0.954247	0.08757	N	0.898210	T	0.15782	0.0380	N	0.02368	-0.58	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.14868	-1.0457	10	0.18276	T	0.48	.	1.6698	0.02809	0.1389:0.2234:0.3238:0.314	.	505	O60603	TLR2_HUMAN	N	505	ENSP00000260010:K505N	ENSP00000260010:K505N	K	+	3	2	TLR2	154845024	0.000000	0.05858	0.026000	0.17262	0.005000	0.04900	-1.228000	0.02948	-1.047000	0.03242	-1.304000	0.01323	AAA		0.378	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			26	38	0	0	0	1	0	26	38				
ZNF551	90233	broad.mit.edu	37	19	58199270	58199270	+	Missense_Mutation	SNP	C	C	T	rs560670635		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58199270C>T	ENST00000282296.5	+	3	1812	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R527C			Q7Z340	ZN551_HUMAN	zinc finger protein 551	543					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTTAGACAGCGCTCTGGCCT	0.443													.|||	1	0.000199681	0.0	0.0	5008	,	,		22102	0.0		0.0	False		,,,				2504	0.001					ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1627-1629)Cgc>Tgc		zinc finger protein 551							79.0	75.0	77.0					19																	58199270		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199270C>T	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1627C>T	19.37:g.58199270C>T	ENSP00000282296:p.Arg543Cys					AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R527C|AC003006.7_ENST00000596085.1_Intron	p.R543C	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1812	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	543					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1627C>T	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	C	5.375	0.254502	0.10185	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.21	-4.42	0.03579	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28699	0.0711	L	0.31664	0.95	0.09310	N	1	D	0.67145	0.996	P	0.48114	0.567	T	0.27971	-1.0058	8	0.39692	T	0.17	.	10.8494	0.46761	0.6773:0.3227:0.0:0.0	.	543	Q7Z340	ZN551_HUMAN	C	543;527;326	.	ENSP00000282296:R527C	R	+	1	0	ZNF551	62891082	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.180000	0.00144	-1.370000	0.02144	-0.310000	0.09108	CGC		0.443	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		23	60	0	0	0	1	0	23	60				
TAS2R50	259296	broad.mit.edu	37	12	11139431	11139431	+	Nonsense_Mutation	SNP	G	G	T	rs79147066	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:11139431G>T	ENST00000506868.1	-	1	80	c.29C>A	c.(28-30)tCa>tAa	p.S10*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	10					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.S10fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TATTAGAATTGAAAAAAAAAT	0.318																																						ENST00000506868.1																			1	Insertion - Frameshift(1)	p.S10fs*25(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						c.(28-30)tCa>tAa		taste receptor, type 2, member 50							29.0	34.0	32.0					12																	11139431		2175	4278	6453	SO:0001587	stop_gained	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11139431G>T	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.29C>A	12.37:g.11139431G>T	ENSP00000424040:p.Ser10*					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.S10*	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN			1	80	-			10					P59545|Q2M255|Q645Y0	Nonsense_Mutation	SNP	ENST00000506868.1	37	c.29C>A	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300393	0.40694	.	.	ENSG00000212126	ENST00000506868	.	.	.	2.49	0.116	0.14647	.	2.779400	0.01813	U	0.033566	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3228	0.04215	0.3362:0.3037:0.36:0.0	.	.	.	.	X	10	.	ENSP00000424040:S10X	S	-	2	0	TAS2R50	11030698	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.568000	0.05909	0.214000	0.20742	0.313000	0.20887	TCA		0.318	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		16	42	1	0	4.7546e-09	1	5.67505e-09	16	42				
WSB1	26118	broad.mit.edu	37	17	25639387	25639387	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:25639387C>T	ENST00000262394.2	+	9	1574	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C	RP11-173M1.8_ENST00000578929.1_lincRNA|WSB1_ENST00000348811.2_Missense_Mutation_p.R274C	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	420	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCTCTCGTATCGTATTTAGAA	0.423																																						ENST00000262394.2																			0				lung(3)	3						c.(1258-1260)Cgt>Tgt		WD repeat and SOCS box containing 1							222.0	209.0	213.0					17																	25639387		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25639387C>T	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.1258C>T	17.37:g.25639387C>T	ENSP00000262394:p.Arg420Cys					WSB1_ENST00000348811.2_Missense_Mutation_p.R274C	p.R420C	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	9	1574	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		420			SOCS box.		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.1258C>T	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843946	0.51164	.	.	ENSG00000109046	ENST00000262394;ENST00000348811	T;T	0.48522	0.81;0.81	5.61	4.64	0.57946	SOCS protein, C-terminal (4);	0.380726	0.25467	N	0.030468	T	0.55893	0.1949	M	0.77103	2.36	0.47819	D	0.999522	D;D	0.65815	0.995;0.99	P;P	0.47075	0.528;0.536	T	0.64592	-0.6371	10	0.72032	D	0.01	-0.7374	13.6675	0.62405	0.0:0.9263:0.0:0.0737	.	274;420	Q9Y6I7-2;Q9Y6I7	.;WSB1_HUMAN	C	420;274	ENSP00000262394:R420C;ENSP00000327055:R274C	ENSP00000262394:R420C	R	+	1	0	WSB1	22663514	0.869000	0.29996	0.097000	0.21041	0.511000	0.34104	1.280000	0.33202	1.503000	0.48686	0.655000	0.94253	CGT		0.423	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		86	151	0	0	0	1	0	86	151				
ZNRF2P2	100271874	broad.mit.edu	37	7	29727089	29727089	+	RNA	SNP	G	G	T	rs560853312		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:29727089G>T	ENST00000426767.1	-	0	0				AC007276.5_ENST00000602980.1_RNA	NR_024278.1				zinc and ring finger 2 pseudogene 2																		TCACTTTAAAGAATTATTGTA	0.274																																						ENST00000602980.1																			0																																																			0							g.chr7:29727089G>T			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29727089G>T								NR_036482.1						0	907	+									RNA	SNP	ENST00000426767.1	37																																																																																						0.274	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		8	7	1	0	0.27861	1	0.279356	8	7				
TRBV3-1	28619	broad.mit.edu	37	7	142008744	142008744	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142008744C>A	ENST00000390387.3	+	0	264									T cell receptor beta variable 3-1																		TAATAAGGAGCTCATTATAAA	0.358																																						ENST00000390387.3																			0																				112.0	114.0	114.0					7																	142008744		1859	4085	5944			0							g.chr7:142008744C>A	U07977		7q34	2012-02-07			ENSG00000237702	ENSG00000237702		"""T cell receptors / TRB locus"""	12212	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV31, TCRBV3S1, TCRBV9S1A1T			OTTHUMG00000158526		7.37:g.142008744C>A														0	264	+									RNA	SNP	ENST00000390387.3	37																																																																																						0.358	TRBV3-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351232.1	NG_001333		29	63	1	0	3.65163e-15	1	4.79858e-15	29	63				
UBR4	23352	broad.mit.edu	37	1	19477235	19477235	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:19477235A>C	ENST00000375254.3	-	49	7293	c.7266T>G	c.(7264-7266)atT>atG	p.I2422M	UBR4_ENST00000375267.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375226.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375217.2_Missense_Mutation_p.I2422M	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2422					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I2422I(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTTGCCATAAATTTTTACAG	0.488																																						ENST00000375267.2																			1	Substitution - coding silent(1)	p.I2422I(1)	urinary_tract(1)	breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(7264-7266)atT>atG		ubiquitin protein ligase E3 component n-recognin 4							182.0	188.0	186.0					1																	19477235		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19477235A>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7266T>G	1.37:g.19477235A>C	ENSP00000364403:p.Ile2422Met					UBR4_ENST00000375226.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375217.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375254.3_Missense_Mutation_p.I2422M	p.I2422M			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	49	7269	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2422					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7266T>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873676	0.72180	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.29655	1.56;1.56;1.57;1.56	6.05	4.87	0.63330	.	0.052900	0.85682	D	0.000000	T	0.27169	0.0666	L	0.58810	1.83	0.80722	D	1	P	0.37015	0.578	B	0.31337	0.128	T	0.07195	-1.0785	10	0.87932	D	0	.	8.6376	0.33957	0.8444:0.0:0.1556:0.0	.	2422	Q5T4S7	UBR4_HUMAN	M	2422;2422;2422;2422;37;1132	ENSP00000364403:I2422M;ENSP00000364416:I2422M;ENSP00000364365:I2422M;ENSP00000364374:I2422M	ENSP00000364365:I2422M	I	-	3	3	UBR4	19349822	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.594000	0.24014	1.035000	0.39972	0.528000	0.53228	ATT		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		115	210	0	0	0	1	0	115	210				
DSG4	147409	broad.mit.edu	37	18	28968937	28968937	+	Missense_Mutation	SNP	C	C	T	rs369555342		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28968937C>T	ENST00000308128.4	+	5	608	c.473C>T	c.(472-474)tCg>tTg	p.S158L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.S158L	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S158L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAGTCTTTTCGCAAAGTGTA	0.413																																						ENST00000359747.4																			1	Substitution - Missense(1)	p.S158L(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(472-474)tCg>tTg		desmoglein 4		C	LEU/SER,LEU/SER	0,4406		0,0,2203	104.0	100.0	101.0		473,473	6.1	0.8	18		101	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	DSG4	NM_001134453.1,NM_177986.3	145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	158/1060,158/1041	28968937	1,13003	2203	4299	6502	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28968937C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.473C>T	18.37:g.28968937C>T	ENSP00000311859:p.Ser158Leu					RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S158L|RP11-534N16.1_ENST00000581856.1_RNA	p.S158L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		5	502	+			158		Missing (in LAH1).	Cadherin 2.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.473C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263611	0.59431	0.0	1.16E-4	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.61040	0.14;0.14	6.11	6.11	0.99139	Cadherin (3);Cadherin-like (1);	0.242046	0.21442	N	0.074461	T	0.56108	0.1963	M	0.69463	2.115	0.32283	N	0.567384	P;P	0.43431	0.807;0.549	B;B	0.36244	0.22;0.158	T	0.64698	-0.6346	10	0.25106	T	0.35	.	18.9147	0.92501	0.0:1.0:0.0:0.0	.	158;158	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	L	158	ENSP00000311859:S158L;ENSP00000352785:S158L	ENSP00000311859:S158L	S	+	2	0	DSG4	27222935	1.000000	0.71417	0.836000	0.33094	0.845000	0.48019	6.096000	0.71446	2.906000	0.99361	0.655000	0.94253	TCG		0.413	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		26	55	0	0	0	1	0	26	55				
CCR5	1234	broad.mit.edu	37	3	46415317	46415317	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46415317C>A	ENST00000292303.4	+	2	1070	c.924C>A	c.(922-924)ctC>ctA	p.L308L	CCR5_ENST00000343801.4_Silent_p.L308L|CCR5_ENST00000445772.1_Silent_p.L308L|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	308					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GAAACTACCTCTTAGTCTTCT	0.493																																						ENST00000343801.4																			0				central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(922-924)ctC>ctA		chemokine (C-C motif) receptor 5 (gene/pseudogene)	Maraviroc(DB04835)						181.0	175.0	177.0					3																	46415317		2203	4296	6499	SO:0001819	synonymous_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46415317C>A		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.924C>A	3.37:g.46415317C>A						CCR5_ENST00000445772.1_Silent_p.L308L|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Silent_p.L308L	p.L308L	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	1281	+			308					O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	ENST00000292303.4	37	c.924C>A	CCDS2739.1																																																																																				0.493	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		51	83	1	0	5.85753e-14	1	7.57693e-14	51	83				
PCNX	22990	broad.mit.edu	37	14	71478246	71478246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71478246C>T	ENST00000304743.2	+	10	3204	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.R920*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.R814*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	920						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TACCTCAGTTCGATTTTATCC	0.269																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(2758-2760)Cga>Tga		pecanex homolog (Drosophila)							124.0	113.0	117.0					14																	71478246		2200	4298	6498	SO:0001587	stop_gained	22990					integral to membrane		g.chr14:71478246C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2758C>T	14.37:g.71478246C>T	ENSP00000304192:p.Arg920*					PCNX_ENST00000439984.3_Nonsense_Mutation_p.R814*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.R920*	p.R920*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	10	3204	+			920					B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	c.2758C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	44	11.234122	0.99534	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	5.45	5.45	0.79879	.	0.122741	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2783	0.94040	0.0:1.0:0.0:0.0	.	.	.	.	X	920;920;814	.	ENSP00000238570:R920X	R	+	1	2	PCNX	70547999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.556000	0.86216	0.650000	0.86243	CGA		0.269	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		4	23	0	0	0	1	0	4	23				
KNTC1	9735	broad.mit.edu	37	12	123067340	123067340	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:123067340A>G	ENST00000333479.7	+	34	3248	c.3071A>G	c.(3070-3072)gAa>gGa	p.E1024G	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1024					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAAGCTCACGAAGTTGCACAG	0.498																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(3070-3072)gAa>gGa		kinetochore associated 1							47.0	46.0	46.0					12																	123067340		1923	4133	6056	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123067340A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3071A>G	12.37:g.123067340A>G	ENSP00000328236:p.Glu1024Gly					KNTC1_ENST00000450485.2_Intron	p.E1024G	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	34	3248	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1024					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.3071A>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768619	0.31320	.	.	ENSG00000184445	ENST00000333479	T	0.16457	2.34	5.91	5.91	0.95273	.	0.051621	0.85682	D	0.000000	T	0.21062	0.0507	L	0.55481	1.735	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.01298	-1.1392	10	0.46703	T	0.11	-14.6165	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1024	P50748	KNTC1_HUMAN	G	1024	ENSP00000328236:E1024G	ENSP00000328236:E1024G	E	+	2	0	KNTC1	121633293	1.000000	0.71417	0.011000	0.14972	0.009000	0.06853	6.099000	0.71466	2.254000	0.74563	0.533000	0.62120	GAA		0.498	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			11	17	0	0	0	1	0	11	17				
NRXN2	9379	broad.mit.edu	37	11	64374680	64374680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64374680C>A	ENST00000377551.1	-	22	5338	c.5127G>T	c.(5125-5127)gaG>gaT	p.E1709D	NRXN2_ENST00000265459.6_Missense_Mutation_p.E1709D|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1702D|NRXN2_ENST00000301894.2_Missense_Mutation_p.E663D|NRXN2_ENST00000377559.3_Missense_Mutation_p.E1639D			Q9P2S2	NRX2A_HUMAN	neurexin 2	1709					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGACATAATACTCCTTGTCTT	0.662																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(5125-5127)gaG>gaT		neurexin 2							38.0	46.0	43.0					11																	64374680		2201	4296	6497	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64374680C>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.5127G>T	11.37:g.64374680C>A	ENSP00000366774:p.Glu1709Asp					NRXN2_ENST00000377551.1_Missense_Mutation_p.E1709D|NRXN2_ENST00000301894.2_Missense_Mutation_p.E663D|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1702D|NRXN2_ENST00000377559.3_Missense_Mutation_p.E1639D	p.E1709D	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			23	5588	-			1709					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.5127G>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823777	0.50739	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;D;D;D;D	0.84944	-1.01;-1.67;-1.92;-1.67;-1.54	4.45	3.46	0.39613	.	0.292228	0.18917	U	0.127599	D	0.90079	0.6901	M	0.69358	2.11	0.46416	D	0.999036	D;P;D;D	0.71674	0.998;0.877;0.996;0.998	D;P;D;D	0.81914	0.995;0.469;0.989;0.992	D	0.90311	0.4337	10	0.87932	D	0	.	10.7969	0.46466	0.1903:0.8097:0.0:0.0	.	1639;1709;1455;663	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	D	663;1709;1639;1709;1639;1702	ENSP00000301894:E663D;ENSP00000366774:E1709D;ENSP00000366782:E1639D;ENSP00000265459:E1709D;ENSP00000386416:E1702D	ENSP00000265459:E1709D	E	-	3	2	NRXN2	64131256	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	1.382000	0.34374	2.029000	0.59856	0.305000	0.20034	GAG		0.662	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		11	25	1	0	0.010729	1	0.0110271	11	25				
RALB	5899	broad.mit.edu	37	2	121043504	121043504	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121043504C>A	ENST00000272519.5	+	3	439	c.169C>A	c.(169-171)Ctt>Att	p.L57I	RALB_ENST00000470417.1_Intron|RALB_ENST00000474855.2_Missense_Mutation_p.L79I|RALB_ENST00000420510.1_Missense_Mutation_p.L57I|RALB_ENST00000404963.3_Missense_Mutation_p.L78I	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	57					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GAAAGTGGTTCTTGATGGGGA	0.418																																						ENST00000272519.5																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(169-171)Ctt>Att		v-ral simian leukemia viral oncogene homolog B							94.0	94.0	94.0					2																	121043504		2203	4300	6503	SO:0001583	missense	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121043504C>A		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.169C>A	2.37:g.121043504C>A	ENSP00000272519:p.Leu57Ile					RALB_ENST00000420510.1_Missense_Mutation_p.L57I|RALB_ENST00000474855.2_Missense_Mutation_p.L79I|RALB_ENST00000404963.3_Missense_Mutation_p.L78I|RALB_ENST00000470417.1_Intron	p.L57I	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN			3	439	+		Prostate(154;0.122)	57					B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	c.169C>A	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389741	0.25118	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383;ENST00000449649	T;T;T;T;T;T;T	0.76316	-0.39;-1.01;-1.01;-1.01;-1.01;-1.01;-0.39	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.065276	0.64402	N	0.000008	T	0.54565	0.1866	N	0.00496	-1.435	0.80722	D	1	B;B;B	0.33919	0.025;0.432;0.044	B;B;B	0.42625	0.333;0.393;0.288	T	0.63323	-0.6663	10	0.02654	T	1	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	79;78;57	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	I	79;79;57;57;78;57;57	ENSP00000402866:L79I;ENSP00000438764:L79I;ENSP00000272519:L57I;ENSP00000414224:L57I;ENSP00000384328:L78I;ENSP00000398162:L57I;ENSP00000407062:L57I	ENSP00000272519:L57I	L	+	1	0	RALB	120759974	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.826000	0.62715	2.826000	0.97356	0.563000	0.77884	CTT		0.418	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		17	40	1	0	1.33834e-09	1	1.61283e-09	17	40				
MTRR	4552	broad.mit.edu	37	5	7870968	7870968	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7870968G>A	ENST00000264668.2	+	2	172	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	FASTKD3_ENST00000264669.5_5'Flank|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'Flank|MTRR_ENST00000341013.6_Missense_Mutation_p.E21K|MTRR_ENST00000440940.2_Missense_Mutation_p.E21K	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	48	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CATCGCAGAAGAAATATGTGA	0.428																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(142-144)Gaa>Aaa		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						159.0	146.0	150.0					5																	7870968		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7870968G>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.142G>A	5.37:g.7870968G>A	ENSP00000264668:p.Glu48Lys					MTRR_ENST00000440940.2_Missense_Mutation_p.E21K|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Missense_Mutation_p.E21K	p.E48K	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			2	172	+			48			Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.142G>A	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358392	0.95854	.	.	ENSG00000124275	ENST00000264668;ENST00000341013;ENST00000440940;ENST00000502550;ENST00000506877;ENST00000512217	T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.69	5.69	0.88448	Flavodoxin/nitric oxide synthase (2);	0.212430	0.49305	D	0.000148	T	0.75406	0.3845	L	0.31065	0.9	0.53005	D	0.999961	D	0.76494	0.999	D	0.72075	0.976	T	0.67647	-0.5617	10	0.10377	T	0.69	-19.1718	19.8119	0.96549	0.0:0.0:1.0:0.0	.	48	Q9UBK8	MTRR_HUMAN	K	48;21;21;21;21;21	ENSP00000264668:E48K;ENSP00000341918:E21K;ENSP00000402510:E21K;ENSP00000424599:E21K;ENSP00000427416:E21K;ENSP00000421318:E21K	ENSP00000264668:E48K	E	+	1	0	MTRR	7923968	1.000000	0.71417	0.266000	0.24541	0.858000	0.48976	7.928000	0.87587	2.664000	0.90586	0.655000	0.94253	GAA		0.428	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			6	62	0	0	0	1	0	6	62				
GAS2	2620	broad.mit.edu	37	11	22833502	22833502	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:22833502G>T	ENST00000454584.2	+	8	1187	c.882G>T	c.(880-882)atG>atT	p.M294I	GAS2_ENST00000278187.3_Missense_Mutation_p.M294I|GAS2_ENST00000433790.1_Missense_Mutation_p.M294I	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	294					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TAAAGGACATGAATCCAGATA	0.453																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(880-882)atG>atT		growth arrest-specific 2							97.0	88.0	91.0					11																	22833502		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22833502G>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.882G>T	11.37:g.22833502G>T	ENSP00000401145:p.Met294Ile					GAS2_ENST00000278187.3_Missense_Mutation_p.M294I|GAS2_ENST00000433790.1_Missense_Mutation_p.M294I	p.M294I	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			8	1187	+			294					B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.882G>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187727	0.38609	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.39229	1.09;1.09;1.09	6.0	6.0	0.97389	.	0.182572	0.64402	D	0.000013	T	0.31389	0.0795	N	0.14661	0.345	0.50813	D	0.999891	B	0.02656	0.0	B	0.04013	0.001	T	0.04885	-1.0920	10	0.30078	T	0.28	-13.216	20.4949	0.99206	0.0:0.0:1.0:0.0	.	294	O43903	GAS2_HUMAN	I	294	ENSP00000401145:M294I;ENSP00000278187:M294I;ENSP00000396708:M294I	ENSP00000278187:M294I	M	+	3	0	GAS2	22790078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.790000	0.55461	2.848000	0.98002	0.655000	0.94253	ATG		0.453	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		25	42	1	0	7.07758e-08	1	8.2413e-08	25	42				
TTC5	91875	broad.mit.edu	37	14	20760161	20760161	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20760161C>T	ENST00000258821.3	-	9	1240	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	395					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GTGCTGAATTCGGTGAAGCCG	0.448																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(1183-1185)cGa>cAa		tetratricopeptide repeat domain 5							73.0	63.0	66.0					14																	20760161		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20760161C>T	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.1184G>A	14.37:g.20760161C>T	ENSP00000258821:p.Arg395Gln						p.R395Q	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	9	1240	-	all_cancers(95;0.00092)		395					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.1184G>A	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	5.482	0.273887	0.10403	.	.	ENSG00000136319	ENST00000258821	T	0.29397	1.57	4.92	-0.357	0.12579	.	0.904742	0.09533	N	0.789253	T	0.11965	0.0291	N	0.03608	-0.345	0.25157	N	0.990382	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	10	0.11794	T	0.64	.	9.0723	0.36500	0.0:0.2942:0.0:0.7058	.	395	Q8N0Z6	TTC5_HUMAN	Q	395	ENSP00000258821:R395Q	ENSP00000258821:R395Q	R	-	2	0	TTC5	19830001	0.604000	0.26932	0.990000	0.47175	0.502000	0.33828	-0.122000	0.10627	-0.007000	0.14345	-0.312000	0.09012	CGA		0.448	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		19	33	0	0	0	1	0	19	33				
FRMPD3	84443	broad.mit.edu	37	X	106843539	106843539	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106843539T>G	ENST00000276185.4	+	16	2369	c.2369T>G	c.(2368-2370)aTt>aGt	p.I790S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	790						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCAGGTCTGATTGTGCTGGCC	0.493																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(2368-2370)aTt>aGt		FERM and PDZ domain containing 3							32.0	27.0	29.0					X																	106843539		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106843539T>G	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.2369T>G	X.37:g.106843539T>G	ENSP00000276185:p.Ile790Ser						p.I790S			Q5JV73	FRPD3_HUMAN			16	2369	+			790					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.2369T>G		.	.	.	.	.	.	.	.	.	.	T	15.41	2.825401	0.50739	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.16597	2.33;2.34	4.57	4.57	0.56435	.	0.116878	0.56097	D	0.000026	T	0.20618	0.0496	L	0.34521	1.04	0.36323	D	0.858384	.	.	.	.	.	.	T	0.16247	-1.0409	8	0.46703	T	0.11	.	12.2564	0.54627	0.0:0.0:0.0:1.0	.	.	.	.	S	790;738	ENSP00000276185:I790S;ENSP00000398668:I738S	ENSP00000276185:I790S	I	+	2	0	FRMPD3	106730195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.436000	0.80404	1.683000	0.51011	0.412000	0.27726	ATT		0.493	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		9	20	0	0	0	1	0	9	20				
ITSN2	50618	broad.mit.edu	37	2	24509172	24509172	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:24509172A>C	ENST00000355123.4	-	16	2215	c.1772T>G	c.(1771-1773)tTa>tGa	p.L591*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.L591*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.L591*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	591					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)					TCTTTGGCATAATTCTTCCTT	0.308																																						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.(1771-1773)tTa>tGa		intersectin 2							96.0	96.0	96.0					2																	24509172		2202	4300	6502	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24509172A>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.1772T>G	2.37:g.24509172A>C	ENSP00000347244:p.Leu591*					ITSN2_ENST00000361999.3_Nonsense_Mutation_p.L591*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.L591*	p.L591*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			16	2215	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		591					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.1772T>G	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	A	38	6.897655	0.97920	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.	.	.	5.33	5.33	0.75918	.	0.000000	0.28952	U	0.013608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.1859	0.65605	1.0:0.0:0.0:0.0	.	.	.	.	X	591	.	ENSP00000347244:L591X	L	-	2	0	ITSN2	24362676	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.160000	0.50739	2.151000	0.67156	0.383000	0.25322	TTA		0.308	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		4	33	0	0	0	1	0	4	33				
CYP2B7P	1556	broad.mit.edu	37	19	41450252	41450252	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:41450252G>T	ENST00000597260.1	+	0	0				CYP2B7P1_ENST00000599198.1_RNA																							TCTACAAGGAGATTGAACAGG	0.498																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														0							g.chr19:41450252G>T																													19.37:g.41450252G>T								NR_001278.1						0	1035	+									RNA	SNP	ENST00000597260.1	37			.	.	.	.	.	.	.	.	.	.	G	14.84	2.654271	0.47467	.	.	ENSG00000256612	ENST00000541697	.	.	.	3.55	-1.29	0.09288	.	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	.	.	.	.	.	.	.	.	.	.	.	.	T	0.60576	-0.7236	5	0.87932	D	0	.	7.4684	0.27334	0.4145:0.0:0.5855:0.0	.	.	.	.	D	327	.	ENSP00000441190:E327D	E	+	3	2	AC008537.4	46142092	1.000000	0.71417	0.862000	0.33874	0.412000	0.31113	4.185000	0.58330	-0.229000	0.09854	0.400000	0.26472	GAG		0.498	AC092071.1-001	KNOWN	basic	sense_intronic	sense_intronic	OTTHUMT00000463563.1			3	18	1	0	1	1	1	3	18				
RSC1A1	6248	broad.mit.edu	37	1	15987116	15987116	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15987116C>T	ENST00000345034.1	+	1	753	c.753C>T	c.(751-753)atC>atT	p.I251I	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	251					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGGAAATCGATACAGCTC	0.418																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(751-753)atC>atT		regulatory solute carrier protein, family 1, member 1							74.0	73.0	73.0					1																	15987116		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987116C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.753C>T	1.37:g.15987116C>T						DDI2_ENST00000480945.1_3'UTR	p.I251I	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	753	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	251					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.753C>T	CCDS161.1																																																																																				0.418	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		18	54	0	0	0	1	0	18	54				
TTLL7	79739	broad.mit.edu	37	1	84386806	84386806	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:84386806C>T	ENST00000260505.8	-	12	1705	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	443					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATGTTCTTCTCGTGAGATCTG	0.323																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1327-1329)cGa>cAa		tubulin tyrosine ligase-like family, member 7							151.0	141.0	144.0					1																	84386806		2202	4300	6502	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84386806C>T	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1328G>A	1.37:g.84386806C>T	ENSP00000260505:p.Arg443Gln					TTLL7_ENST00000477524.1_5'UTR	p.R443Q	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	12	1705	-			443					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.1328G>A	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593269	0.46214	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.03860	3.78	5.85	2.55	0.30701	.	0.251057	0.47093	N	0.000245	T	0.01029	0.0034	L	0.28115	0.83	0.29637	N	0.845012	B	0.15930	0.015	B	0.09377	0.004	T	0.49570	-0.8926	10	0.21540	T	0.41	.	7.28	0.26306	0.0:0.3502:0.0:0.6498	.	443	Q6ZT98	TTLL7_HUMAN	Q	443;220;443	ENSP00000260505:R443Q	ENSP00000260505:R443Q	R	-	2	0	TTLL7	84159394	0.996000	0.38824	0.478000	0.27316	0.978000	0.69477	0.891000	0.28309	0.311000	0.23014	0.643000	0.83706	CGA		0.323	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		22	33	0	0	0	1	0	22	33				
TAF7L	54457	broad.mit.edu	37	X	100532613	100532613	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100532613C>T	ENST00000372907.3	-	9	941	c.930G>A	c.(928-930)aaG>aaA	p.K310K	TAF7L_ENST00000356784.1_Silent_p.K224K|TAF7L_ENST00000372905.2_Silent_p.K224K|TAF7L_ENST00000324762.6_Silent_p.K224K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	310					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TATGACCCTGCTTGTGGCTGC	0.438																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(928-930)aaG>aaA		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							189.0	184.0	186.0					X																	100532613		2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100532613C>T	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.930G>A	X.37:g.100532613C>T						TAF7L_ENST00000356784.1_Silent_p.K224K|TAF7L_ENST00000324762.6_Silent_p.K224K|TAF7L_ENST00000372905.2_Silent_p.K224K	p.K310K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			9	941	-			310					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.930G>A	CCDS35347.1																																																																																				0.438	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			60	140	0	0	0	1	0	60	140				
CDH26	60437	broad.mit.edu	37	20	58567518	58567518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58567518G>T	ENST00000244047.5	+	10	1680	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	CDH26_ENST00000348616.4_Nonsense_Mutation_p.E457*			Q8IXH8	CAD26_HUMAN	cadherin 26	457	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AATTGACCGAGAATCCCCTCA	0.403																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1369-1371)Gaa>Taa		cadherin 26							131.0	117.0	122.0					20																	58567518		2203	4300	6503	SO:0001587	stop_gained	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58567518G>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1369G>T	20.37:g.58567518G>T	ENSP00000244047:p.Glu457*					CDH26_ENST00000244047.5_Nonsense_Mutation_p.E457*	p.E457*	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		10	1669	+	all_lung(29;0.00963)		457			Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Nonsense_Mutation	SNP	ENST00000244047.5	37	c.1369G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.567832|4.567832	0.86439|0.86439	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616	.|.	.|.	.|.	5.15|5.15	4.2|4.2	0.49525|0.49525	.|.	0.065388|0.065388	0.64402|0.64402	D|D	0.000020|0.000020	T|.	0.68339|.	0.2990|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78638|.	-0.2126|.	4|.	.|0.87932	.|D	.|0	.|.	12.7247|12.7247	0.57164|0.57164	0.0819:0.0:0.9181:0.0|0.0819:0.0:0.9181:0.0	.|.	.|.	.|.	.|.	D|X	48|457	.|.	.|ENSP00000244047:E457X	E|E	+|+	3|1	2|0	CDH26|CDH26	58000913|58000913	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.243000|0.243000	0.25628|0.25628	4.343000|4.343000	0.59348|0.59348	1.143000|1.143000	0.42306|0.42306	0.650000|0.650000	0.86243|0.86243	GAG|GAA		0.403	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		4	35	1	0	0.00024832	1	0.000265255	4	35				
TUBAL3	79861	broad.mit.edu	37	10	5435795	5435795	+	Silent	SNP	C	C	T	rs200952820		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5435795C>T	ENST00000380419.3	-	4	1063	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	TUBAL3_ENST00000479328.1_Silent_p.T302T	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	342					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GCCTCGACTTCGTGGCTGCGA	0.562																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(1024-1026)acG>acA		tubulin, alpha-like 3							95.0	85.0	88.0					10																	5435795		2203	4300	6503	SO:0001819	synonymous_variant	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5435795C>T	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1026G>A	10.37:g.5435795C>T						TUBAL3_ENST00000479328.1_Silent_p.T302T	p.T342T	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN			4	1063	-			342					B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	ENST00000380419.3	37	c.1026G>A	CCDS7066.2																																																																																				0.562	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		24	45	0	0	0	1	0	24	45				
MECR	51102	broad.mit.edu	37	1	29533290	29533290	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:29533290G>A	ENST00000263702.6	-	4	559	c.534C>T	c.(532-534)ttC>ttT	p.F178F	MECR_ENST00000373791.3_Silent_p.F102F|MECR_ENST00000489248.1_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	178					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCAGTTGCTCGAAGTCCATCA	0.592																																						ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(304-306)ttC>ttT		mitochondrial trans-2-enoyl-CoA reductase							113.0	99.0	104.0					1																	29533290		2203	4300	6503	SO:0001819	synonymous_variant	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29533290G>A		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.534C>T	1.37:g.29533290G>A						MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Silent_p.F178F	p.F102F	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	4	678	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	178					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Silent	SNP	ENST00000263702.6	37	c.306C>T	CCDS30659.1																																																																																				0.592	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		24	52	0	0	0	1	0	24	52				
ANKS1B	56899	broad.mit.edu	37	12	100169404	100169404	+	Missense_Mutation	SNP	C	C	T	rs377245260		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100169404C>T	ENST00000547776.2	-	7	882	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.E295K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	295						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACAGGCTCTTCGAGGACTGTA	0.348																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(883-885)Gaa>Aaa		ankyrin repeat and sterile alpha motif domain containing 1B		C	LYS/GLU	0,3722		0,0,1861	134.0	120.0	124.0		883	5.9	1.0	12		124	1,8207		0,1,4103	no	missense	ANKS1B	NM_152788.4	56	0,1,5964	TT,TC,CC		0.0122,0.0,0.0084	benign	295/1249	100169404	1,11929	1861	4104	5965	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100169404C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.883G>A	12.37:g.100169404C>T	ENSP00000449629:p.Glu295Lys					ANKS1B_ENST00000329257.7_Missense_Mutation_p.E295K|ANKS1B_ENST00000547010.1_Intron	p.E295K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	7	882	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	295					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.883G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925091	0.34002	0.0	1.22E-4	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.49432	0.96;0.96;0.78	5.86	5.86	0.93980	.	0.124879	0.52532	D	0.000075	T	0.44973	0.1319	L	0.44542	1.39	0.80722	D	1	D;B	0.58268	0.982;0.274	B;B	0.43867	0.434;0.053	T	0.30794	-0.9966	9	.	.	.	-14.5792	17.0929	0.86627	0.0:1.0:0.0:0.0	.	261;295	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	K	295;295;261	ENSP00000449629:E295K;ENSP00000331381:E295K;ENSP00000449894:E261K	.	E	-	1	0	ANKS1B	98693535	0.995000	0.38212	0.956000	0.39512	0.073000	0.16967	3.957000	0.56730	2.775000	0.95449	0.650000	0.86243	GAA		0.348	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		12	11	0	0	0	1	0	12	11				
ABCG2	9429	broad.mit.edu	37	4	89052995	89052995	+	Missense_Mutation	SNP	C	C	T	rs199578838		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:89052995C>T	ENST00000237612.3	-	4	883	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R113Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	113	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	ATTGGCAGGTCGCGGTGCTCC	0.393																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(337-339)cGa>cAa		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						98.0	91.0	93.0					4																	89052995		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052995C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.338G>A	4.37:g.89052995C>T	ENSP00000237612:p.Arg113Gln					ABCG2_ENST00000515655.1_Missense_Mutation_p.R113Q	p.R113Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	4	883	-		Hepatocellular(203;0.114)	113			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.338G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965615	0.18583	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	D;D	0.93712	-3.27;-3.27	5.42	0.583	0.17417	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.179846	0.50627	N	0.000109	D	0.82917	0.5141	N	0.17082	0.46	0.27922	N	0.93821	B;B	0.15719	0.014;0.009	B;B	0.11329	0.006;0.003	T	0.68153	-0.5484	10	0.14656	T	0.56	3.9295	7.2445	0.26114	0.0:0.345:0.0:0.655	.	113;113	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	Q	113	ENSP00000426917:R113Q;ENSP00000237612:R113Q	ENSP00000237612:R113Q	R	-	2	0	ABCG2	89272019	0.972000	0.33761	0.634000	0.29324	0.258000	0.26162	1.310000	0.33551	0.209000	0.20645	0.655000	0.94253	CGA		0.393	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		7	24	0	0	0	1	0	7	24				
FAT3	120114	broad.mit.edu	37	11	92087781	92087781	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92087781A>C	ENST00000298047.6	+	1	2520	c.2503A>C	c.(2503-2505)Agt>Cgt	p.S835R	FAT3_ENST00000541502.1_Missense_Mutation_p.S835R|FAT3_ENST00000525166.1_Missense_Mutation_p.S685R|FAT3_ENST00000409404.2_Missense_Mutation_p.S835R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	835	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATTCAAGACAGTTACTCAGT	0.398										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(2503-2505)Agt>Cgt		FAT atypical cadherin 3							92.0	86.0	88.0					11																	92087781		1935	4146	6081	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087781A>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2503A>C	11.37:g.92087781A>C	ENSP00000298047:p.Ser835Arg	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.S685R|FAT3_ENST00000541502.1_Missense_Mutation_p.S835R|FAT3_ENST00000409404.2_Missense_Mutation_p.S835R	p.S835R			Q8TDW7	FAT3_HUMAN			1	2520	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	835			Cadherin 8.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2503A>C		.	.	.	.	.	.	.	.	.	.	A	11.61	1.689693	0.29962	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.61158	4.6;4.6;0.13;4.6	5.71	4.58	0.56647	.	.	.	.	.	T	0.57989	0.2091	L	0.28274	0.84	0.33039	D	0.531241	D	0.76494	0.999	D	0.65773	0.938	T	0.60026	-0.7343	9	0.15066	T	0.55	.	10.6718	0.45762	0.9256:0.0:0.0744:0.0	.	835	Q8TDW7-3	.	R	835;835;835;685	ENSP00000298047:S835R;ENSP00000387040:S835R;ENSP00000443786:S835R;ENSP00000432586:S685R	ENSP00000298047:S835R	S	+	1	0	FAT3	91727429	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.819000	0.55686	1.003000	0.39130	0.383000	0.25322	AGT		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		20	17	0	0	0	1	0	20	17				
DIS3L	115752	broad.mit.edu	37	15	66599214	66599214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66599214C>A	ENST00000319212.4	+	3	396	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	DIS3L_ENST00000319194.5_Missense_Mutation_p.L33I|DIS3L_ENST00000441424.2_Intron	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	116					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATTGCATTCTCTTTGCTAA	0.478																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(97-99)Ctc>Atc		DIS3 mitotic control homolog (S. cerevisiae)-like							142.0	114.0	123.0					15																	66599214		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66599214C>A		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.346C>A	15.37:g.66599214C>A	ENSP00000321711:p.Leu116Ile					DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319212.4_Missense_Mutation_p.L116I	p.L33I	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			3	358	+			116					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.97C>A	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686086	0.47991	.	.	ENSG00000166938	ENST00000319194;ENST00000525134;ENST00000319212;ENST00000532580;ENST00000530615	T;T	0.23147	1.93;1.92	5.96	4.09	0.47781	.	0.132784	0.48767	D	0.000165	T	0.18964	0.0455	L	0.45228	1.405	0.80722	D	1	B;B	0.28636	0.139;0.218	B;B	0.26094	0.066;0.057	T	0.06144	-1.0843	10	0.39692	T	0.17	-10.3652	5.6492	0.17606	0.0:0.6152:0.1539:0.2309	.	116;116	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	I	33;33;116;33;33	ENSP00000321583:L33I;ENSP00000321711:L116I	ENSP00000321583:L33I	L	+	1	0	DIS3L	64386268	0.949000	0.32298	0.718000	0.30602	0.913000	0.54294	1.829000	0.39121	0.864000	0.35578	0.655000	0.94253	CTC		0.478	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		21	48	1	0	4.35082e-09	1	5.20082e-09	21	48				
MCMBP	79892	broad.mit.edu	37	10	121600381	121600381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:121600381G>A	ENST00000360003.3	-	11	1391	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Nonsense_Mutation_p.R406*	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	408					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TGAATAATTCGATACAAGTGT	0.333																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1222-1224)Cga>Tga		minichromosome maintenance complex binding protein							129.0	129.0	129.0					10																	121600381		2203	4300	6503	SO:0001587	stop_gained	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121600381G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1222C>T	10.37:g.121600381G>A	ENSP00000353098:p.Arg408*					MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Nonsense_Mutation_p.R406*	p.R408*	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			11	1391	-			408					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Nonsense_Mutation	SNP	ENST00000360003.3	37	c.1222C>T	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	39	7.367328	0.98238	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.97	5.97	0.96955	.	0.260668	0.39985	N	0.001208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-25.6699	20.434	0.99088	0.0:0.0:1.0:0.0	.	.	.	.	X	408;406	.	ENSP00000353098:R408X	R	-	1	2	MCMBP	121590371	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.130000	0.77235	2.838000	0.97847	0.561000	0.74099	CGA		0.333	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		14	22	0	0	0	1	0	14	22				
DCC	1630	broad.mit.edu	37	18	50278454	50278454	+	Missense_Mutation	SNP	G	G	A	rs202005334		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50278454G>A	ENST00000442544.2	+	2	738	c.122G>A	c.(121-123)cGc>cAc	p.R41H	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	41	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGCACTGCGCTTCCTCTCA	0.483																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(121-123)cGc>cAc		deleted in colorectal carcinoma							50.0	51.0	51.0					18																	50278454		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278454G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.122G>A	18.37:g.50278454G>A	ENSP00000389140:p.Arg41His						p.R41H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	738	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	41			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.122G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941259	0.34283	.	.	ENSG00000187323	ENST00000442544	T	0.53857	0.6	5.81	-4.16	0.03869	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.708739	0.13640	N	0.373061	T	0.35941	0.0949	L	0.36672	1.1	0.80722	D	1	B	0.18461	0.028	B	0.16289	0.015	T	0.19095	-1.0316	10	0.14656	T	0.56	.	12.6783	0.56908	0.5748:0.0:0.4252:0.0	.	41	P43146	DCC_HUMAN	H	41	ENSP00000389140:R41H	ENSP00000389140:R41H	R	+	2	0	DCC	48532452	0.001000	0.12720	0.678000	0.29963	0.995000	0.86356	-0.686000	0.05161	-1.382000	0.02109	-0.126000	0.14955	CGC		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		13	17	0	0	0	1	0	13	17				
XIRP2	129446	broad.mit.edu	37	2	168107532	168107532	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168107532G>A	ENST00000409195.1	+	9	9719	c.9630G>A	c.(9628-9630)aaG>aaA	p.K3210K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.K2988K|XIRP2_ENST00000295237.9_Silent_p.K3210K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3035					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGTAGAGAAGAGGTCTGAAA	0.458																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9628-9630)aaG>aaA		xin actin-binding repeat containing 2							73.0	74.0	74.0					2																	168107532		1939	4135	6074	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107532G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9630G>A	2.37:g.168107532G>A						XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K3210K|XIRP2_ENST00000409273.1_Silent_p.K2988K	p.K3210K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9719	+			3035					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.9630G>A	CCDS42769.1																																																																																				0.458	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		35	64	0	0	0	1	0	35	64				
GRM7	2917	broad.mit.edu	37	3	7494314	7494314	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:7494314G>T	ENST00000357716.4	+	6	1469	c.1195G>T	c.(1195-1197)Gat>Tat	p.D399Y	GRM7_ENST00000486284.1_Missense_Mutation_p.D399Y|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.D399Y|GRM7_ENST00000403881.1_Missense_Mutation_p.D399Y|GRM7_ENST00000402647.2_Missense_Mutation_p.D399Y	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	399					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.D399Y(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AATTGGAAAAGATTCCAACTA	0.433																																						ENST00000486284.1																			1	Substitution - Missense(1)	p.D399Y(1)	large_intestine(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1195-1197)Gat>Tat		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						115.0	102.0	106.0					3																	7494314		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7494314G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1195G>T	3.37:g.7494314G>T	ENSP00000350348:p.Asp399Tyr					GRM7_ENST00000402647.2_Missense_Mutation_p.D399Y|GRM7_ENST00000357716.4_Missense_Mutation_p.D399Y|GRM7_ENST00000403881.1_Missense_Mutation_p.D399Y|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.D399Y	p.D399Y	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			6	1469	+			399					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1195G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153259	0.78114	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.049461	0.85682	D	0.000000	D	0.91546	0.7330	M	0.87269	2.87	0.58432	D	0.999997	D;D;P	0.69078	0.997;0.997;0.794	D;D;P	0.70487	0.948;0.969;0.577	D	0.88668	0.3193	10	0.16896	T	0.51	.	18.8061	0.92038	0.0:0.0:1.0:0.0	.	399;399;399	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	Y	399;399;399;399;399;399;399;56	ENSP00000350348:D399Y;ENSP00000417536:D399Y;ENSP00000373987:D399Y;ENSP00000385664:D399Y;ENSP00000384585:D399Y;ENSP00000395035:D56Y	ENSP00000350348:D399Y	D	+	1	0	GRM7	7469314	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.961000	0.87903	2.782000	0.95742	0.655000	0.94253	GAT		0.433	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		11	51	1	0	3.07112e-06	1	3.42433e-06	11	51				
ZNF100	163227	broad.mit.edu	37	19	21909894	21909894	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21909894C>T	ENST00000358296.6	-	5	1418	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D	ZNF100_ENST00000305570.6_Missense_Mutation_p.G343D	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGCCTTTGCCGCATTCTTC	0.378																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1219-1221)gGc>gAc		zinc finger protein 100							67.0	74.0	72.0					19																	21909894		2158	4278	6436	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909894C>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1220G>A	19.37:g.21909894C>T	ENSP00000351042:p.Gly407Asp					ZNF100_ENST00000305570.6_Missense_Mutation_p.G343D	p.G407D	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN			5	1418	-			407					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.1220G>A	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	7.640	0.680764	0.14907	.	.	ENSG00000197020	ENST00000358296	T	0.01430	4.9	0.841	0.841	0.18918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03095	0.0091	N	0.21617	0.685	0.32145	N	0.585036	P;D	0.89917	0.952;1.0	P;D	0.79784	0.886;0.993	T	0.46119	-0.9214	9	0.62326	D	0.03	.	8.3927	0.32537	0.0:1.0:0.0:0.0	.	407;461	Q8IYN0;Q4G131	ZN100_HUMAN;.	D	407	ENSP00000351042:G407D	ENSP00000351042:G407D	G	-	2	0	ZNF100	21701734	0.005000	0.15991	0.010000	0.14722	0.010000	0.07245	0.339000	0.19875	0.182000	0.20032	0.185000	0.17295	GGC		0.378	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		7	48	0	0	0	1	0	7	48				
BRCA2	675	broad.mit.edu	37	13	32911760	32911760	+	Missense_Mutation	SNP	A	A	C	rs398122760|rs80359381		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32911760A>C	ENST00000380152.3	+	11	3501	c.3268A>C	c.(3268-3270)Atg>Ctg	p.M1090L	BRCA2_ENST00000544455.1_Missense_Mutation_p.M1090L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1090					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AACCCCTCAGATGTTATTTTC	0.328			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(3268-3270)Atg>Ctg	Homologous recombination	breast cancer 2, early onset							53.0	56.0	55.0					13																	32911760		2192	4288	6480	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911760A>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3268A>C	13.37:g.32911760A>C	ENSP00000369497:p.Met1090Leu	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.M1090L	p.M1090L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3495	+		Lung SC(185;0.0262)	1090					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.3268A>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.320057	0.01320	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00675	5.88;5.88	5.24	-1.75	0.08031	.	1.476540	0.03704	N	0.249164	T	0.00815	0.0027	L	0.34521	1.04	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.50056	-0.8872	10	0.12430	T	0.62	.	7.8961	0.29708	0.416:0.0:0.4697:0.1143	.	1090	P51587	BRCA2_HUMAN	L	1090	ENSP00000369497:M1090L;ENSP00000439902:M1090L	ENSP00000369497:M1090L	M	+	1	0	BRCA2	31809760	0.000000	0.05858	0.076000	0.20297	0.292000	0.27327	-0.060000	0.11712	-0.184000	0.10567	0.533000	0.62120	ATG		0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		11	54	0	0	0	1	0	11	54				
ARHGAP32	9743	broad.mit.edu	37	11	128839659	128839659	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:128839659G>T	ENST00000310343.9	-	22	5406	c.5407C>A	c.(5407-5409)Ctt>Att	p.L1803I	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1454I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1803	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTGAGAGAAGTCCAGTTTTC	0.547																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(5407-5409)Ctt>Att		Rho GTPase activating protein 32							92.0	90.0	90.0					11																	128839659		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839659G>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5407C>A	11.37:g.128839659G>T	ENSP00000310561:p.Leu1803Ile					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000524655.1_3'UTR	p.L1803I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	5406	-			1803			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5407C>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318716	0.81469	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.14893	2.5;2.47;2.47	6.07	6.07	0.98685	.	0.067447	0.64402	D	0.000010	T	0.44582	0.1300	M	0.68952	2.095	0.44976	D	0.997993	D	0.76494	0.999	D	0.78314	0.991	T	0.15867	-1.0422	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1803	A7KAX9	RHG32_HUMAN	I	1803;1454;1454	ENSP00000310561:L1803I;ENSP00000376425:L1454I;ENSP00000432862:L1454I	ENSP00000310561:L1803I	L	-	1	0	ARHGAP32	128344869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.075000	0.64407	2.884000	0.98904	0.655000	0.94253	CTT		0.547	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		18	97	1	0	6.94344e-10	1	8.4399e-10	18	97				
AKAP12	9590	broad.mit.edu	37	6	151671102	151671102	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151671102A>C	ENST00000253332.1	+	3	1765	c.1576A>C	c.(1576-1578)Aaa>Caa	p.K526Q	AKAP12_ENST00000402676.2_Missense_Mutation_p.K526Q|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000354675.6_Missense_Mutation_p.K428Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.K421Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	526	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CACTGGCTTAAAAAAGCTTTC	0.507																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1576-1578)Aaa>Caa		A kinase (PRKA) anchor protein 12							74.0	84.0	81.0					6																	151671102		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671102A>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1576A>C	6.37:g.151671102A>C	ENSP00000253332:p.Lys526Gln					AKAP12_ENST00000253332.1_Missense_Mutation_p.K526Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.K428Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.K421Q	p.K526Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	1816	+		Ovarian(120;0.125)	526			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.1576A>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620243	0.87460	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.15834	2.39;2.39;2.41;2.41	5.22	5.22	0.72569	.	0.000000	0.41194	D	0.000931	T	0.32102	0.0818	M	0.74881	2.28	0.47778	D	0.99951	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.968	T	0.04811	-1.0925	10	0.40728	T	0.16	.	15.4264	0.75055	1.0:0.0:0.0:0.0	.	421;428;526	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	Q	526;526;428;421	ENSP00000384537:K526Q;ENSP00000253332:K526Q;ENSP00000346702:K428Q;ENSP00000352794:K421Q	ENSP00000253332:K526Q	K	+	1	0	AKAP12	151712795	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.287000	0.95975	2.096000	0.63516	0.528000	0.53228	AAA		0.507	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			49	70	0	0	0	1	0	49	70				
TTC5	91875	broad.mit.edu	37	14	20763928	20763928	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20763928C>T	ENST00000258821.3	-	7	838	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	261					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTCTCGTTGCCGGGGCTCTGG	0.493																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(781-783)cGg>cAg		tetratricopeptide repeat domain 5							77.0	89.0	85.0					14																	20763928		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20763928C>T	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.782G>A	14.37:g.20763928C>T	ENSP00000258821:p.Arg261Gln						p.R261Q	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	7	838	-	all_cancers(95;0.00092)		261					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.782G>A	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264436	0.23136	.	.	ENSG00000136319	ENST00000258821	T	0.74315	-0.83	4.83	-5.54	0.02544	Tetratricopeptide-like helical (1);	1.271680	0.05117	N	0.489946	T	0.43942	0.1270	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35773	-0.9775	10	0.14252	T	0.57	.	8.5553	0.33478	0.1133:0.2249:0.0:0.6617	.	261	Q8N0Z6	TTC5_HUMAN	Q	261	ENSP00000258821:R261Q	ENSP00000258821:R261Q	R	-	2	0	TTC5	19833768	0.000000	0.05858	0.413000	0.26509	0.992000	0.81027	-3.365000	0.00496	-0.835000	0.04234	-0.136000	0.14681	CGG		0.493	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		46	69	0	0	0	1	0	46	69				
HTR3B	9177	broad.mit.edu	37	11	113803116	113803116	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113803116G>T	ENST00000260191.2	+	5	731	c.474G>T	c.(472-474)gaG>gaT	p.E158D	HTR3B_ENST00000537778.1_Missense_Mutation_p.E147D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	158					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GCAGTTTAGAGACATATGCTT	0.438																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(472-474)gaG>gaT		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							173.0	148.0	156.0					11																	113803116		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113803116G>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.474G>T	11.37:g.113803116G>T	ENSP00000260191:p.Glu158Asp					HTR3B_ENST00000537778.1_Missense_Mutation_p.E147D	p.E158D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	5	731	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	158					B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.474G>T	CCDS8364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.255|6.255	0.415210|0.415210	0.11870|0.11870	.|.	.|.	ENSG00000149305|ENSG00000149305	ENST00000260191;ENST00000537778|ENST00000543092	T;T|.	0.73681|.	-0.77;-0.77|.	5.82|5.82	4.91|4.91	0.64330|0.64330	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.115241|.	0.64402|.	D|.	0.000020|.	T|T	0.20901|0.20901	0.0503|0.0503	N|N	0.02391|0.02391	-0.57|-0.57	0.41389|0.41389	D|D	0.987601|0.987601	B;D|.	0.56746|.	0.028;0.977|.	B;P|.	0.55011|.	0.03;0.766|.	T|T	0.09952|0.09952	-1.0651|-1.0651	10|5	0.02654|.	T|.	1|.	-13.7381|-13.7381	6.6186|6.6186	0.22790|0.22790	0.1559:0.148:0.6961:0.0|0.1559:0.148:0.6961:0.0	.|.	147;158|.	O95264-2;O95264|.	.;5HT3B_HUMAN|.	D|I	158;147|87	ENSP00000260191:E158D;ENSP00000443118:E147D|.	ENSP00000260191:E158D|.	E|R	+|+	3|2	2|0	HTR3B|HTR3B	113308326|113308326	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.966000|0.966000	0.64601|0.64601	1.567000|1.567000	0.36407|0.36407	1.468000|1.468000	0.48064|0.48064	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.438	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		28	34	1	0	3.73988e-18	1	5.05028e-18	28	34				
UBASH3A	53347	broad.mit.edu	37	21	43846924	43846924	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43846924T>C	ENST00000319294.6	+	8	1196	c.1165T>C	c.(1165-1167)Ttg>Ctg	p.L389L	UBASH3A_ENST00000398367.1_Silent_p.L351L|UBASH3A_ENST00000291535.6_Silent_p.L351L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	389					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTTACAGGCCTTGCAGGTAAT	0.448																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1165-1167)Ttg>Ctg		ubiquitin associated and SH3 domain containing A							92.0	85.0	87.0					21																	43846924		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43846924T>C	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1165T>C	21.37:g.43846924T>C						UBASH3A_ENST00000398367.1_Silent_p.L351L|UBASH3A_ENST00000291535.6_Silent_p.L351L	p.L389L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			8	1196	+			389					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.1165T>C	CCDS13687.1																																																																																				0.448	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		14	65	0	0	0	1	0	14	65				
TENM2	57451	broad.mit.edu	37	5	167630748	167630748	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167630748G>T	ENST00000518659.1	+	18	3524	c.3485G>T	c.(3484-3486)aGg>aTg	p.R1162M	TENM2_ENST00000519204.1_Missense_Mutation_p.R1041M|TENM2_ENST00000545108.1_Missense_Mutation_p.R1162M|TENM2_ENST00000520394.1_Missense_Mutation_p.R930M|TENM2_ENST00000403607.2_Missense_Mutation_p.R986M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1162					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGGAGAAAAGGACAGCCCTC	0.498																																						ENST00000519204.1																			0											c.(3121-3123)aGg>aTg		teneurin transmembrane protein 2							126.0	119.0	121.0					5																	167630748		1867	4094	5961	SO:0001583	missense	57451							g.chr5:167630748G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3485G>T	5.37:g.167630748G>T	ENSP00000429430:p.Arg1162Met					TENM2_ENST00000518659.1_Missense_Mutation_p.R1162M|TENM2_ENST00000545108.1_Missense_Mutation_p.R1162M|TENM2_ENST00000403607.2_Missense_Mutation_p.R986M|TENM2_ENST00000520394.1_Missense_Mutation_p.R930M	p.R1041M							17	3240	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3122G>T		.	.	.	.	.	.	.	.	.	.	g	26.7	4.762487	0.89932	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90955	-2.27;-2.28;-2.38;-2.75;-2.76	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.96182	0.8755	M	0.88979	2.995	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.993;0.999;0.992	D	0.96831	0.9611	10	0.87932	D	0	.	18.809	0.92050	0.0:0.0:1.0:0.0	.	1162;1162;930	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	1162;1162;1041;930;986	ENSP00000429430:R1162M;ENSP00000438635:R1162M;ENSP00000428964:R1041M;ENSP00000427874:R930M;ENSP00000384905:R986M	ENSP00000384905:R986M	R	+	2	0	ODZ2	167563326	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.810000	0.99221	2.499000	0.84300	0.645000	0.84053	AGG		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		33	63	1	0	2.61193e-14	1	3.39424e-14	33	63				
BRWD1	54014	broad.mit.edu	37	21	40636553	40636553	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:40636553T>G	ENST00000333229.2	-	17	2045	c.1718A>C	c.(1717-1719)aAt>aCt	p.N573T	BRWD1_ENST00000342449.3_Missense_Mutation_p.N573T|BRWD1_ENST00000380800.3_Missense_Mutation_p.N573T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	573					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TAAGACATAATTATTAGAATC	0.383																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(1717-1719)aAt>aCt		bromodomain and WD repeat domain containing 1							58.0	59.0	58.0					21																	40636553		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40636553T>G	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1718A>C	21.37:g.40636553T>G	ENSP00000330753:p.Asn573Thr					BRWD1_ENST00000380800.3_Missense_Mutation_p.N573T|BRWD1_ENST00000333229.2_Missense_Mutation_p.N573T	p.N573T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			17	1796	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	573					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1718A>C	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.59|17.59	3.428188|3.428188	0.62844|0.62844	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.45276|.	0.9;0.9;0.9|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.074640|.	0.56097|.	D|.	0.000034|.	T|.	0.76695|.	0.4023|.	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.89917|.	0.915;0.978;1.0;0.999|.	B;P;D;D|.	0.91635|.	0.395;0.672;0.999;0.915|.	T|.	0.78518|.	-0.2173|.	10|.	0.72032|.	D|.	0.01|.	-14.5777|-14.5777	15.3539|15.3539	0.74412|0.74412	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	284;284;573;573|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	T|Y	573|284	ENSP00000330753:N573T;ENSP00000344333:N573T;ENSP00000370178:N573T|.	ENSP00000330753:N573T|.	N|X	-|-	2|3	0|2	BRWD1|BRWD1	39558423|39558423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.921000|2.921000	0.48852|0.48852	2.043000|2.043000	0.60533|0.60533	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.383	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		5	23	0	0	0	1	0	5	23				
SMG1	23049	broad.mit.edu	37	16	18823418	18823418	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:18823418C>T	ENST00000446231.2	-	61	11065	c.10653G>A	c.(10651-10653)caG>caA	p.Q3551Q	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Silent_p.Q3552Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3551					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGACATCAGGCTGAGTCTTCT	0.483																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(10651-10653)caG>caA		SMG1 phosphatidylinositol 3-kinase-related kinase							108.0	99.0	102.0					16																	18823418		1966	4164	6130	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823418C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10653G>A	16.37:g.18823418C>T						RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Silent_p.Q3552Q	p.Q3551Q			Q96Q15	SMG1_HUMAN			61	11065	-			3551					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.10653G>A	CCDS45430.1																																																																																				0.483	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		16	39	0	0	0	1	0	16	39				
CDC23	8697	broad.mit.edu	37	5	137548851	137548851	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137548851T>C	ENST00000394886.2	-	1	181	c.151A>G	c.(151-153)Agt>Ggt	p.S51G	CDC23_ENST00000505120.1_Missense_Mutation_p.S51G|CDC23_ENST00000394884.3_Missense_Mutation_p.S51G	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	51					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CATTTGCTACTGTGTAGTAGG	0.537																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(151-153)Agt>Ggt		cell division cycle 23							101.0	109.0	106.0					5																	137548851		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137548851T>C	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.151A>G	5.37:g.137548851T>C	ENSP00000378350:p.Ser51Gly					CDC23_ENST00000394884.3_Missense_Mutation_p.S51G|CDC23_ENST00000505120.1_Missense_Mutation_p.S51G	p.S51G	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		1	181	-			51					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.151A>G	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525937	0.85600	.	.	ENSG00000094880	ENST00000394886;ENST00000394884;ENST00000505120	T;T;T	0.56611	0.45;0.45;0.45	5.93	4.71	0.59529	Cdc23 (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.62209	1.925	0.80722	D	1	D;P	0.71674	0.998;0.711	D;P	0.63488	0.915;0.534	T	0.67256	-0.5716	10	0.54805	T	0.06	-13.3772	11.8033	0.52139	0.1314:0.0:0.0:0.8686	.	51;51	Q9UJX2-2;Q9UJX2	.;CDC23_HUMAN	G	51	ENSP00000378350:S51G;ENSP00000378348:S51G;ENSP00000423704:S51G	ENSP00000378348:S51G	S	-	1	0	CDC23	137576750	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.516000	0.60496	2.281000	0.76405	0.533000	0.62120	AGT		0.537	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			9	193	0	0	0	1	0	9	193				
DNAH3	55567	broad.mit.edu	37	16	21157311	21157311	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21157311G>T	ENST00000261383.3	-	2	215	c.216C>A	c.(214-216)ctC>ctA	p.L72L	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.L72L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	72	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATACCTGATAGAGTCCAGACG	0.552																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(214-216)ctC>ctA		dynein, axonemal, heavy chain 3							89.0	79.0	82.0					16																	21157311		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21157311G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.216C>A	16.37:g.21157311G>T						DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.L72L	p.L72L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	2	215	-			72			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.216C>A	CCDS10594.1																																																																																				0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		10	55	1	0	1.58986e-06	1	1.78832e-06	10	55				
PRKCB	5579	broad.mit.edu	37	16	23848713	23848713	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23848713G>A	ENST00000321728.7	+	2	366	c.191G>A	c.(190-192)gGa>gAa	p.G64E	PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000303531.7_Missense_Mutation_p.G64E	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	64					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GGGAAGCAGGGATTCCAGTGC	0.547																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(190-192)gGa>gAa		protein kinase C, beta	Vitamin E(DB00163)						111.0	121.0	118.0					16																	23848713		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23848713G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.191G>A	16.37:g.23848713G>A	ENSP00000318315:p.Gly64Glu					PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000321728.7_Missense_Mutation_p.G64E	p.G64E	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			2	343	+			64					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.191G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182762	0.94885	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.94650	-3.48;-3.48	4.88	4.88	0.63580	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.151725	0.42548	D	0.000697	D	0.98362	0.9456	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.99643	1.0989	10	0.87932	D	0	.	15.8778	0.79180	0.0:0.0:1.0:0.0	.	64;64	P05771-2;P05771	.;KPCB_HUMAN	E	64	ENSP00000318315:G64E;ENSP00000305355:G64E	ENSP00000305355:G64E	G	+	2	0	PRKCB	23756214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.019000	0.93662	2.395000	0.81488	0.655000	0.94253	GGA		0.547	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		59	113	0	0	0	1	0	59	113				
MED12	9968	broad.mit.edu	37	X	70352363	70352363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70352363G>T	ENST00000374080.3	+	31	4422	c.4390G>T	c.(4390-4392)Gaa>Taa	p.E1464*	MED12_ENST00000374102.1_Nonsense_Mutation_p.E1464*|MED12_ENST00000333646.6_Nonsense_Mutation_p.E1464*			Q93074	MED12_HUMAN	mediator complex subunit 12	1464					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCACGCAAAGAACGTGATCG	0.517			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(4390-4392)Gaa>Taa		mediator complex subunit 12							53.0	48.0	50.0					X																	70352363		1908	4123	6031	SO:0001587	stop_gained	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70352363G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4390G>T	X.37:g.70352363G>T	ENSP00000363193:p.Glu1464*					MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Nonsense_Mutation_p.E1464*|MED12_ENST00000374102.1_Nonsense_Mutation_p.E1464*	p.E1464*	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			31	4589	+	Renal(35;0.156)		1464					O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	ENST00000374080.3	37	c.4390G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	45	11.518621	0.99571	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.	.	.	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-12.8582	16.1804	0.81895	0.0:0.0:1.0:0.0	.	.	.	.	X	1464;1464;1464;1464;1432;209	.	ENSP00000333125:E1464X	E	+	1	0	MED12	70269088	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.933000	0.92911	2.071000	0.62044	0.523000	0.50628	GAA		0.517	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	13	1	0	0.00198382	1	0.00207034	7	13				
GNAO1	2775	broad.mit.edu	37	16	56377721	56377721	+	Intron	SNP	C	C	T	rs375972567	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:56377721C>T	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Silent_p.Y308Y	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGGCCCAGTACGAGAGCAAGA	0.577													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13972	0.001		0.0	False		,,,				2504	0.0					ENST00000262494.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(922-924)taC>taT		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O		C	,	3,4393	6.2+/-15.9	0,3,2195	173.0	110.0	131.0		,924	-1.0	1.0	16		131	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	GNAO1	NM_020988.2,NM_138736.2	,	0,4,6494	TT,TC,CC		0.0116,0.0682,0.0308	,	,308/355	56377721	4,12992	2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56377721C>T		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+6949C>T	16.37:g.56377721C>T						GNAO1_ENST00000262493.6_Intron	p.Y308Y	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN			8	1184	+		all_neural(199;0.159)	308					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.924C>T	CCDS10756.1																																																																																				0.577	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		13	26	0	0	0	1	0	13	26				
HSDL2	84263	broad.mit.edu	37	9	115216318	115216318	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115216318G>T	ENST00000398805.3	+	9	1118	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.E224D|HSDL2_ENST00000262542.7_Missense_Mutation_p.E177D|HSDL2_ENST00000539114.1_Missense_Mutation_p.E92D	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	297						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TCAAAGAAGAGAAACTGCAGC	0.398																																						ENST00000398805.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(889-891)gaG>gaT		hydroxysteroid dehydrogenase like 2							99.0	90.0	93.0					9																	115216318		1861	4102	5963	SO:0001583	missense	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115216318G>T	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.891G>T	9.37:g.115216318G>T	ENSP00000381785:p.Glu297Asp					HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_Missense_Mutation_p.E92D|HSDL2_ENST00000398803.1_Missense_Mutation_p.E224D|HSDL2_ENST00000262542.7_Missense_Mutation_p.E177D	p.E297D	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN			9	1118	+			297					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	c.891G>T	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	G	5.929	0.355506	0.11239	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;T;T;T	0.83250	-1.7;1.85;1.9;1.88	5.8	1.98	0.26296	NAD(P)-binding domain (1);	0.391089	0.30227	N	0.010109	T	0.68879	0.3049	L	0.36672	1.1	0.09310	N	1	B;B;B	0.30281	0.275;0.18;0.087	B;B;B	0.24155	0.051;0.037;0.03	T	0.52064	-0.8625	10	0.17832	T	0.49	.	7.5252	0.27652	0.3399:0.0:0.6601:0.0	.	224;224;297	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	D	297;224;177;92	ENSP00000381785:E297D;ENSP00000381783:E224D;ENSP00000262542:E177D;ENSP00000442278:E92D	ENSP00000262542:E177D	E	+	3	2	HSDL2	114256139	0.996000	0.38824	0.745000	0.31077	0.313000	0.28021	0.163000	0.16520	0.103000	0.17682	-0.350000	0.07774	GAG		0.398	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		20	39	1	0	2.94398e-08	1	3.45884e-08	20	39				
SLCO1B7	338821	broad.mit.edu	37	12	21207445	21207445	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21207445G>A	ENST00000421593.2	+	10	1416	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	LST3_ENST00000381541.3_Silent_p.A519A|LST3_ENST00000540229.1_Intron|RP11-125O5.2_ENST00000590779.1_5'Flank|SLCO1B7_ENST00000554957.1_Silent_p.A519A|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	472						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A472A(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATTACTCAGCGCACTTGGGTG	0.353																																						ENST00000381541.3																			1	Substitution - coding silent(1)	p.A472A(1)	endometrium(1)								c.(1555-1557)gcG>gcA									110.0	117.0	114.0					12																	21207445		2194	4300	6494	SO:0001819	synonymous_variant	0							g.chr12:21207445G>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1416G>A	12.37:g.21207445G>A						SLCO1B7_ENST00000554957.1_Silent_p.A519A|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.A472A	p.A519A							11	1622	+								Q71QF0	Silent	SNP	ENST00000421593.2	37	c.1557G>A	CCDS44843.1																																																																																				0.353	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		13	36	0	0	0	1	0	13	36				
PKHD1	5314	broad.mit.edu	37	6	51524480	51524480	+	Missense_Mutation	SNP	G	G	A	rs148617572		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51524480G>A	ENST00000371117.3	-	61	10719	c.10444C>T	c.(10444-10446)Cgc>Tgc	p.R3482C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3482			R -> C (in ARPKD). {ECO:0000269|PubMed:12506140, ECO:0000269|PubMed:15108281}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R3482C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAAAAAAGCGCAAAACTTGA	0.443																																						ENST00000371117.3																			1	Substitution - Missense(1)	p.R3482C(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	GRCh37	CM032336	PKHD1	M	rs148617572	c.(10444-10446)Cgc>Tgc		polycystic kidney and hepatic disease 1 (autosomal recessive)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	78.0	78.0		10444	3.9	0.5	6	dbSNP_134	78	0,8600		0,0,4300	no	missense	PKHD1	NM_138694.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3482/4075	51524480	1,13005	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524480G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10444C>T	6.37:g.51524480G>A	ENSP00000360158:p.Arg3482Cys						p.R3482C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	10719	-	Lung NSC(77;0.0605)		3482		R -> C (in ARPKD).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10444C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201621	0.58234	2.27E-4	0.0	ENSG00000170927	ENST00000371117	D	0.94184	-3.37	5.72	3.89	0.44902	.	0.341409	0.25765	N	0.028456	D	0.90045	0.6891	L	0.34521	1.04	0.29128	N	0.879818	D	0.89917	1.0	P	0.57846	0.828	D	0.86300	0.1679	10	0.66056	D	0.02	.	13.3409	0.60545	0.0:0.0:0.4578:0.5422	.	3482	P08F94	PKHD1_HUMAN	C	3482	ENSP00000360158:R3482C	ENSP00000360158:R3482C	R	-	1	0	PKHD1	51632439	0.999000	0.42202	0.472000	0.27241	0.911000	0.54048	2.559000	0.45888	0.717000	0.32145	0.655000	0.94253	CGC		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		30	40	0	0	0	1	0	30	40				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52389581	52389581	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52389581T>G	ENST00000443374.2	+	0	770				RP11-50E11.3_ENST00000609579.1_RNA																							TGAGTTCATCTTGTTCTGAAT	0.463																																						ENST00000443374.1																			0																																																			0							g.chr10:52389581T>G																													10.37:g.52389581T>G														0	274	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.463	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			14	30	0	0	0	1	0	14	30				
PIWIL1	9271	broad.mit.edu	37	12	130847640	130847640	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:130847640G>A	ENST00000245255.3	+	18	2418	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	716	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GGTGAACTACGAAGTGCCACA	0.443																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(2146-2148)Gaa>Aaa		piwi-like RNA-mediated gene silencing 1							111.0	110.0	110.0					12																	130847640		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130847640G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2146G>A	12.37:g.130847640G>A	ENSP00000245255:p.Glu716Lys						p.E716K	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	18	2418	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		716			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2146G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978635	0.74360	.	.	ENSG00000125207	ENST00000245255	T	0.56444	0.46	5.49	5.49	0.81192	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.84110	0.5400	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.968;0.975	D	0.90690	0.4612	10	0.87932	D	0	-14.1815	18.3615	0.90376	0.0:0.0:1.0:0.0	.	716;716	Q96J94;Q96J94-2	PIWL1_HUMAN;.	K	716	ENSP00000245255:E716K	ENSP00000245255:E716K	E	+	1	0	PIWIL1	129413593	1.000000	0.71417	0.950000	0.38849	0.008000	0.06430	9.440000	0.97547	2.578000	0.87016	0.467000	0.42956	GAA		0.443	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			29	50	0	0	0	1	0	29	50				
NEBL	10529	broad.mit.edu	37	10	21074700	21074700	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:21074700C>T	ENST00000377122.4	-	28	3417	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	NEBL_ENST00000377159.4_Silent_p.A229A|NEBL_ENST00000417816.2_Silent_p.A263A	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	1007	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.A263A(1)|p.A1007A(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAATGTAATTCGCTGGGAGCA	0.413																																						ENST00000377122.4																			2	Substitution - coding silent(2)	p.A263A(1)|p.A1007A(1)	lung(2)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3019-3021)gcG>gcA		nebulette							84.0	75.0	78.0					10																	21074700		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21074700C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.3021G>A	10.37:g.21074700C>T						NEBL_ENST00000417816.2_Silent_p.A263A|NEBL_ENST00000377159.4_Silent_p.A229A	p.A1007A	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			28	3417	-			1007			SH3.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.3021G>A	CCDS7134.1																																																																																				0.413	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		13	23	0	0	0	1	0	13	23				
ZNF416	55659	broad.mit.edu	37	19	58084262	58084262	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58084262T>G	ENST00000196489.3	-	4	1232	c.1010A>C	c.(1009-1011)cAa>cCa	p.Q337P		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTTGGAACTTTGGCTAAAAGA	0.428																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(1009-1011)cAa>cCa		zinc finger protein 416							95.0	92.0	93.0					19																	58084262		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084262T>G	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1010A>C	19.37:g.58084262T>G	ENSP00000196489:p.Gln337Pro						p.Q337P	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1232	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	337					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1010A>C	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307868	0.60305	.	.	ENSG00000083817	ENST00000196489;ENST00000359489	T	0.35973	1.28	3.64	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39600	0.1084	M	0.75150	2.29	0.09310	N	1	P	0.51057	0.941	P	0.46940	0.532	T	0.30268	-0.9984	9	0.49607	T	0.09	.	6.5256	0.22299	0.0:0.5542:0.1807:0.2651	.	337	Q9BWM5	ZN416_HUMAN	P	337;296	ENSP00000196489:Q337P	ENSP00000196489:Q337P	Q	-	2	0	ZNF416	62776074	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-6.340000	0.00070	-0.138000	0.11434	0.482000	0.46254	CAA		0.428	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		28	60	0	0	0	1	0	28	60				
ABRA	137735	broad.mit.edu	37	8	107773289	107773289	+	Missense_Mutation	SNP	A	A	C	rs202188968		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107773289A>C	ENST00000311955.3	-	2	1176	c.1122T>G	c.(1120-1122)caT>caG	p.H374Q		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TAATCACAACATGGTCATCTC	0.418																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(1120-1122)caT>caG		actin-binding Rho activating protein							208.0	193.0	198.0					8																	107773289		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107773289A>C	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.1122T>G	8.37:g.107773289A>C	ENSP00000311436:p.His374Gln						p.H374Q	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		2	1176	-			374			Interaction with actin (By similarity).			Missense_Mutation	SNP	ENST00000311955.3	37	c.1122T>G	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.132716	0.56828	.	.	ENSG00000174429	ENST00000311955	.	.	.	5.76	-5.16	0.02857	.	0.320500	0.37809	N	0.001924	T	0.49881	0.1583	M	0.69823	2.125	0.43608	D	0.995974	B	0.20261	0.043	B	0.20955	0.032	T	0.10636	-1.0621	9	0.48119	T	0.1	-13.004	4.9225	0.13876	0.4679:0.0:0.3194:0.2127	.	374	Q8N0Z2	ABRA_HUMAN	Q	374	.	ENSP00000311436:H374Q	H	-	3	2	ABRA	107842465	0.219000	0.23619	0.962000	0.40283	0.882000	0.50991	-0.240000	0.08952	-0.762000	0.04664	-0.417000	0.06048	CAT		0.418	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		50	84	0	0	0	1	0	50	84				
OSTN	344901	broad.mit.edu	37	3	190936632	190936632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:190936632G>T	ENST00000339051.1	+	2	199	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	OSTN_ENST00000445281.1_Nonsense_Mutation_p.E67*|OSTN-AS1_ENST00000430375.1_RNA	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	67					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		GCTTCTTGATGAATTGGTGTC	0.453																																						ENST00000445281.1																			0				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13						c.(199-201)Gaa>Taa		osteocrin							145.0	135.0	139.0					3																	190936632		2203	4300	6503	SO:0001587	stop_gained	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190936632G>T	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.199G>T	3.37:g.190936632G>T	ENSP00000342356:p.Glu67*					OSTN_ENST00000339051.1_Nonsense_Mutation_p.E67*|OSTN-AS1_ENST00000430375.1_RNA	p.E67*			P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	3	266	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		67					A1A4U3	Nonsense_Mutation	SNP	ENST00000339051.1	37	c.199G>T	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035691	0.93630	.	.	ENSG00000188729	ENST00000445281;ENST00000339051	.	.	.	5.54	5.54	0.83059	.	0.122894	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.066	18.4606	0.90737	0.0:0.0:1.0:0.0	.	.	.	.	X	67	.	ENSP00000342356:E67X	E	+	1	0	OSTN	192419326	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.382000	0.66213	2.610000	0.88304	0.561000	0.74099	GAA		0.453	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		13	30	1	0	3.03607e-14	1	3.94451e-14	13	30				
MUC2	4583	broad.mit.edu	37	11	1088722	1088722	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1088722G>T	ENST00000441003.2	+	26	3534	c.3507G>T	c.(3505-3507)aaG>aaT	p.K1169N	MUC2_ENST00000359061.5_Missense_Mutation_p.K1169N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1169					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGCCCCAAGGACAGGCCCA	0.622																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3505-3507)aaG>aaT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						51.0	58.0	56.0					11																	1088722		2050	4189	6239	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1088722G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3507G>T	11.37:g.1088722G>T	ENSP00000415183:p.Lys1169Asn					MUC2_ENST00000359061.5_Missense_Mutation_p.K1169N	p.K1169N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	26	3534	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1169					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3507G>T		.	.	.	.	.	.	.	.	.	.	G	4.521	0.096637	0.08681	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.54675	0.56;0.56	3.57	0.141	0.14811	.	622.786000	0.00447	U	0.000092	T	0.40297	0.1111	L	0.39245	1.2	0.09310	N	1	B	0.26876	0.162	B	0.24269	0.052	T	0.16070	-1.0415	10	0.39692	T	0.17	.	0.1765	0.00119	0.2899:0.1459:0.2483:0.316	.	1169	E7EUV1	.	N	1169	ENSP00000415183:K1169N;ENSP00000351956:K1169N	ENSP00000351956:K1169N	K	+	3	2	MUC2	1078722	0.000000	0.05858	0.000000	0.03702	0.894000	0.52154	-0.385000	0.07379	0.197000	0.20387	0.456000	0.33151	AAG		0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		5	7	1	0	0.000602214	1	0.000636035	5	7				
TEX35	84066	broad.mit.edu	37	1	178485757	178485757	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178485757A>C	ENST00000319416.2	+	5	336	c.224A>C	c.(223-225)gAt>gCt	p.D75A	TEX35_ENST00000367642.3_Intron|TEX35_ENST00000367643.3_Missense_Mutation_p.D75A|TEX35_ENST00000367641.3_Missense_Mutation_p.D75A|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000367639.1_Missense_Mutation_p.D83A	NM_032126.4	NP_115502.2			testis expressed 35																		TAGATAAAGGATCTAATGGAC	0.403																																						ENST00000367641.3																			0											c.(223-225)gAt>gCt		testis expressed 35							126.0	107.0	113.0					1																	178485757		2203	4300	6503	SO:0001583	missense	84066							g.chr1:178485757A>C	AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.224A>C	1.37:g.178485757A>C	ENSP00000323795:p.Asp75Ala					TEX35_ENST00000367643.3_Missense_Mutation_p.D75A|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000319416.2_Missense_Mutation_p.D75A|TEX35_ENST00000367639.1_Missense_Mutation_p.D83A	p.D75A							5	283	+									Missense_Mutation	SNP	ENST00000319416.2	37	c.224A>C	CCDS1323.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357762	0.24598	.	.	ENSG00000240021	ENST00000319416;ENST00000367643;ENST00000367641;ENST00000367639	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.12	1.38	0.22167	.	1.223500	0.05889	N	0.627832	T	0.19525	0.0469	L	0.46157	1.445	0.09310	N	0.999998	P;P;P	0.36909	0.573;0.573;0.573	B;B;B	0.36666	0.23;0.23;0.23	T	0.26467	-1.0102	10	0.59425	D	0.04	-0.678	4.2425	0.10656	0.6378:0.1716:0.1906:0.0	.	83;75;75	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	A	75;75;75;83	ENSP00000323795:D75A;ENSP00000356615:D75A;ENSP00000356613:D75A;ENSP00000356611:D83A	ENSP00000323795:D75A	D	+	2	0	C1orf49	176752380	0.232000	0.23762	0.011000	0.14972	0.071000	0.16799	1.148000	0.31614	0.039000	0.15632	-0.316000	0.08728	GAT		0.403	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126		3	23	0	0	0	1	0	3	23				
DOCK10	55619	broad.mit.edu	37	2	225761087	225761087	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225761087T>G	ENST00000258390.7	-	4	408	c.341A>C	c.(340-342)aAa>aCa	p.K114T	DOCK10_ENST00000409592.3_Missense_Mutation_p.K108T|DOCK10_ENST00000474102.1_5'UTR	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	114					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACTATAAAATTTACAAGCCTG	0.383																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(322-324)aAa>aCa		dedicator of cytokinesis 10							39.0	35.0	37.0					2																	225761087		1791	4060	5851	SO:0001583	missense	55619						GTP binding	g.chr2:225761087T>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.341A>C	2.37:g.225761087T>G	ENSP00000258390:p.Lys114Thr					DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000258390.7_Missense_Mutation_p.K114T	p.K108T			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	4	436	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	114					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.323A>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057872	0.55325	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.48836	0.8;0.8	5.32	5.32	0.75619	.	0.093324	0.64402	D	0.000001	T	0.47395	0.1443	M	0.64567	1.98	0.37848	D	0.929286	P;B;P	0.34743	0.466;0.36;0.466	B;B;B	0.38264	0.269;0.102;0.269	T	0.56739	-0.7929	10	0.56958	D	0.05	.	10.0512	0.42216	0.0:0.0755:0.0:0.9245	.	114;114;108	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	T	108;114	ENSP00000386694:K108T;ENSP00000258390:K114T	ENSP00000258390:K114T	K	-	2	0	DOCK10	225469331	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.199000	0.58426	2.152000	0.67230	0.529000	0.55759	AAA		0.383	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	13	0	0	0	1	0	7	13				
ZFP90	146198	broad.mit.edu	37	16	68598587	68598587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:68598587C>T	ENST00000570495.1	+	5	2189	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	ZFP90_ENST00000398253.2_Nonsense_Mutation_p.R633*|ZFP90_ENST00000563169.2_Nonsense_Mutation_p.R633*			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	633					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R633R(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AATTCATACTCGAAATAAACT	0.378																																						ENST00000570495.1																			1	Substitution - coding silent(1)	p.R633R(1)	lung(1)	breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1897-1899)Cga>Tga		ZFP90 zinc finger protein							58.0	61.0	60.0					16																	68598587		1978	4188	6166	SO:0001587	stop_gained	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598587C>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1897C>T	16.37:g.68598587C>T	ENSP00000460547:p.Arg633*					RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Nonsense_Mutation_p.R633*|ZFP90_ENST00000563169.2_Nonsense_Mutation_p.R633*	p.R633*			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2189	+		Ovarian(137;0.192)	633					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Nonsense_Mutation	SNP	ENST00000570495.1	37	c.1897C>T	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232419	0.95207	.	.	ENSG00000184939	ENST00000398253	.	.	.	5.87	0.847	0.18961	.	.	.	.	.	.	.	.	.	.	.	0.24711	N	0.993209	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-8.1053	2.2525	0.04047	0.3032:0.347:0.2538:0.096	.	.	.	.	X	633	.	ENSP00000381304:R633X	R	+	1	2	ZFP90	67156088	0.997000	0.39634	0.704000	0.30370	0.596000	0.36781	2.674000	0.46867	0.734000	0.32515	0.484000	0.47621	CGA		0.378	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		28	34	0	0	0	1	0	28	34				
ZNF780B	163131	broad.mit.edu	37	19	40542471	40542471	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40542471A>C	ENST00000434248.1	-	5	360	c.295T>G	c.(295-297)Tta>Gta	p.L99V	ZNF780B_ENST00000221355.6_De_novo_Start_OutOfFrame|ZNF780B_ENST00000598845.1_3'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTTTGGGTAAATTTATTTCA	0.313																																						ENST00000221355.6																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23								zinc finger protein 780B							29.0	27.0	28.0					19																	40542471		1929	4145	6074	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40542471A>C	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.295T>G	19.37:g.40542471A>C	ENSP00000391641:p.Leu99Val					ZNF780B_ENST00000434248.1_Missense_Mutation_p.L99V|ZNF780B_ENST00000598845.1_3'UTR				Q9Y6R6	Z780B_HUMAN			0	552	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)							B9EH00	Translation_Start_Site	SNP	ENST00000434248.1	37		CCDS46077.1	.	.	.	.	.	.	.	.	.	.	A	6.535	0.467029	0.12402	.	.	ENSG00000128000	ENST00000434248	T	0.05447	3.44	2.44	1.35	0.21983	.	.	.	.	.	T	0.11196	0.0273	L	0.39898	1.24	0.22796	N	0.998729	D	0.63880	0.993	D	0.70016	0.967	T	0.23084	-1.0198	9	0.11182	T	0.66	.	5.8114	0.18467	0.7644:0.0:0.0:0.2356	.	99	Q9Y6R6	Z780B_HUMAN	V	99	ENSP00000391641:L99V	ENSP00000391641:L99V	L	-	1	2	ZNF780B	45234311	0.005000	0.15991	0.071000	0.20095	0.200000	0.23975	1.095000	0.30964	0.056000	0.16144	0.260000	0.18958	TTA		0.313	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		6	8	0	0	0	1	0	6	8				
COL22A1	169044	broad.mit.edu	37	8	139845316	139845316	+	Missense_Mutation	SNP	G	G	A	rs141938188	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139845316G>A	ENST00000303045.6	-	5	1257	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R271W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	271	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GATCCCATCCGTACATAGGAA	0.507										HNSCC(7;0.00092)			G|||	2	0.000399361	0.0008	0.0	5008	,	,		18804	0.001		0.0	False		,,,				2504	0.0					ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(811-813)Cgg>Tgg		collagen, type XXII, alpha 1		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	147.0	118.0	128.0		811	5.1	1.0	8	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL22A1	NM_152888.1	101	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	271/1627	139845316	4,13002	2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139845316G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.811C>T	8.37:g.139845316G>A	ENSP00000303153:p.Arg271Trp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.R271W	p.R271W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		5	1257	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		271			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.811C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597780	0.87055	6.81E-4	1.16E-4	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.41758	0.99;0.99	5.05	5.05	0.67936	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.45126	D	0.000398	T	0.65365	0.2684	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66184	-0.5987	9	.	.	.	.	17.3965	0.87446	0.0:0.0:1.0:0.0	.	271	Q8NFW1	COMA1_HUMAN	W	271	ENSP00000303153:R271W;ENSP00000387655:R271W	.	R	-	1	2	COL22A1	139914498	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.546000	0.73887	2.523000	0.85059	0.650000	0.86243	CGG		0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		20	44	0	0	0	1	0	20	44				
ZNF709	163051	broad.mit.edu	37	19	12575681	12575681	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12575681C>T	ENST00000397732.3	-	4	1226	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	ZNF709_ENST00000428311.1_Missense_Mutation_p.R352Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATATGTCTTCGATAGCTTGG	0.368																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1054-1056)cGa>cAa		zinc finger protein 709							99.0	106.0	104.0					19																	12575681		2202	4300	6502	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575681C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1055G>A	19.37:g.12575681C>T	ENSP00000380840:p.Arg352Gln					ZNF709_ENST00000428311.1_Missense_Mutation_p.R352Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.R352Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1226	-			352					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1055G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	5.648	0.304150	0.10678	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07444	3.19;3.19	2.43	-2.66	0.06077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.688566	0.11110	N	0.598717	T	0.04137	0.0115	L	0.27053	0.805	0.09310	N	1	B	0.30281	0.275	B	0.17722	0.019	T	0.46091	-0.9216	10	0.12103	T	0.63	.	7.7545	0.28917	0.0:0.503:0.0:0.497	.	352	Q8N972	ZN709_HUMAN	Q	352	ENSP00000380840:R352Q;ENSP00000404127:R352Q	ENSP00000404127:R352Q	R	-	2	0	ZNF709;CTD-2192J16.17	12436681	0.000000	0.05858	0.000000	0.03702	0.986000	0.74619	-3.625000	0.00411	-0.564000	0.06070	0.467000	0.42956	CGA		0.368	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		38	46	0	0	0	1	0	38	46				
RAB40B	10966	broad.mit.edu	37	17	80617462	80617462	+	Silent	SNP	G	G	A	rs372054252		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80617462G>A	ENST00000571995.1	-	4	467	c.336C>T	c.(334-336)atC>atT	p.I112I	RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000538809.2_Silent_p.I112I|RAB40B_ENST00000269347.6_5'UTR	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	112					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ATACCTCATCGATCTCCTTAA	0.562																																						ENST00000571995.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10						c.(334-336)atC>atT		RAB40B, member RAS oncogene family		G		0,4406		0,0,2203	150.0	120.0	130.0		336	-0.5	1.0	17		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RAB40B	NM_006822.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		112/279	80617462	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80617462G>A	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.336C>T	17.37:g.80617462G>A						RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Silent_p.I112I	p.I112I	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		4	467	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	112					Q8WVG3	Silent	SNP	ENST00000571995.1	37	c.336C>T	CCDS11816.1																																																																																				0.562	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			19	42	0	0	0	1	0	19	42				
OTOGL	283310	broad.mit.edu	37	12	80733009	80733009	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:80733009G>A	ENST00000547103.1	+	42	4958	c.4952G>A	c.(4951-4953)cGa>cAa	p.R1651Q	OTOGL_ENST00000458043.2_Missense_Mutation_p.R1663Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1651	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.R28L(1)|p.R1663L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGGCTTCCGATTTAACTTG	0.353																																						ENST00000458043.2																			2	Substitution - Missense(2)	p.R28L(1)|p.R1663L(1)	lung(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(4987-4989)cGa>cAa		otogelin-like							233.0	231.0	232.0					12																	80733009		1883	4096	5979	SO:0001583	missense	283310							g.chr12:80733009G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4952G>A	12.37:g.80733009G>A	ENSP00000447211:p.Arg1651Gln					OTOGL_ENST00000547103.1_Missense_Mutation_p.R1651Q	p.R1663Q	NM_173591.3	NP_775862.3					42	4994	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.4988G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.820|2.820	-0.245098|-0.245098	0.05906|0.05906	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|T;T	.|0.59224	.|0.28;0.28	5.58|5.58	-11.2|-11.2	0.00127|0.00127	.|.	.|.	.|.	.|.	.|.	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.01048|0.01048	-1.04|-1.04	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.37197|0.37197	-0.9716|-0.9716	5|7	.|0.11182	.|T	.|0.66	.|.	11.6147|11.6147	0.51083|0.51083	0.4557:0.092:0.4523:0.0|0.4557:0.092:0.4523:0.0	.|.	.|.	.|.	.|.	N|Q	106|1651;1663	.|ENSP00000447211:R1651Q;ENSP00000400895:R1663Q	.|ENSP00000400895:R1663Q	D|R	+|+	1|2	0|0	OTOGL|OTOGL	79257140|79257140	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.165000|0.165000	0.22458|0.22458	0.256000|0.256000	0.18351|0.18351	-1.612000|-1.612000	0.01579|0.01579	-0.300000|-0.300000	0.09419|0.09419	GAT|CGA		0.353	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		70	113	0	0	0	1	0	70	113				
SUPV3L1	6832	broad.mit.edu	37	10	70946299	70946299	+	Silent	SNP	C	C	T	rs149476310	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70946299C>T	ENST00000359655.4	+	3	510	c.450C>T	c.(448-450)ttC>ttT	p.F150F	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	150					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.F150F(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATATTTGCTTCGGTGCAGGCA	0.363													C|||	3	0.000599042	0.0	0.0	5008	,	,		19267	0.0		0.001	False		,,,				2504	0.002					ENST00000359655.4																			1	Substitution - coding silent(1)	p.F150F(1)	endometrium(1)	NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(448-450)ttC>ttT		suppressor of var1, 3-like 1 (S. cerevisiae)		C		0,4406		0,0,2203	156.0	150.0	152.0		450	6.1	1.0	10	dbSNP_134	152	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SUPV3L1	NM_003171.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		150/787	70946299	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70946299C>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.450C>T	10.37:g.70946299C>T						SUPV3L1_ENST00000483572.1_3'UTR	p.F150F	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			3	510	+			150					A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.450C>T	CCDS7287.1																																																																																				0.363	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		20	45	0	0	0	1	0	20	45				
PLA2G7	7941	broad.mit.edu	37	6	46678377	46678377	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46678377C>T	ENST00000274793.7	-	8	878	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	PLA2G7_ENST00000538237.1_Missense_Mutation_p.E183K|PLA2G7_ENST00000541026.1_Missense_Mutation_p.E101K|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E228K	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	228					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGGGAACATTCTTTTGCTCTT	0.323																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(682-684)Gaa>Aaa		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							98.0	97.0	98.0					6																	46678377		2203	4299	6502	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678377C>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.682G>A	6.37:g.46678377C>T	ENSP00000274793:p.Glu228Lys					PLA2G7_ENST00000541026.1_Missense_Mutation_p.E101K|PLA2G7_ENST00000538237.1_Missense_Mutation_p.E183K|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E228K	p.E228K	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		8	878	-			228					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.682G>A	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	35	5.474493	0.96291	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86117	0.1566	10	0.59425	D	0.04	.	20.1672	0.98154	0.0:1.0:0.0:0.0	.	101;183;228;228	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	K	228;228;183;101	ENSP00000274793:E228K;ENSP00000445666:E228K;ENSP00000441416:E183K;ENSP00000444164:E101K	ENSP00000274793:E228K	E	-	1	0	PLA2G7	46786336	1.000000	0.71417	0.992000	0.48379	0.937000	0.57800	7.034000	0.76511	2.861000	0.98227	0.655000	0.94253	GAA		0.323	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			4	47	0	0	0	1	0	4	47				
VWA3B	200403	broad.mit.edu	37	2	98928336	98928336	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98928336G>A	ENST00000477737.1	+	27	3780	c.3576G>A	c.(3574-3576)gcG>gcA	p.A1192A	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1192										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGAAAGAAGCGGACACGCAGG	0.602																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3574-3576)gcG>gcA		von Willebrand factor A domain containing 3B							25.0	31.0	29.0					2																	98928336		1918	4123	6041	SO:0001819	synonymous_variant	200403							g.chr2:98928336G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3576G>A	2.37:g.98928336G>A						VWA3B_ENST00000490947.2_3'UTR	p.A1192A	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			27	3780	+			1192					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.3576G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	2.945	-0.218024	0.06101	.	.	ENSG00000168658	ENST00000473149	.	.	.	3.89	-1.6	0.08426	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28522	-1.0041	4	.	.	.	.	4.4435	0.11586	0.3337:0.0:0.3334:0.3329	.	.	.	.	R	603	.	.	G	+	1	0	VWA3B	98294768	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.039000	0.13884	-0.258000	0.09446	-1.478000	0.00992	GGA		0.602	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		7	17	0	0	0	1	0	7	17				
TG	7038	broad.mit.edu	37	8	134031925	134031925	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134031925C>A	ENST00000220616.4	+	39	6901	c.6861C>A	c.(6859-6861)ttC>ttA	p.F2287L	TG_ENST00000519543.1_Missense_Mutation_p.F420L|TG_ENST00000542445.1_Missense_Mutation_p.F657L|TG_ENST00000377869.1_Missense_Mutation_p.F2230L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2287				F -> P (in Ref. 13; AA sequence). {ECO:0000305}.	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)		TCAATGTGTTCATCCCTCAGA	0.517																																						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.(6859-6861)ttC>ttA		thyroglobulin							227.0	180.0	196.0					8																	134031925		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134031925C>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.6861C>A	8.37:g.134031925C>A	ENSP00000220616:p.Phe2287Leu					TG_ENST00000519543.1_Missense_Mutation_p.F420L|TG_ENST00000377869.1_Missense_Mutation_p.F2230L|TG_ENST00000542445.1_Missense_Mutation_p.F657L	p.F2287L	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)	39	6901	+	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)	2287	F -> P (in Ref. 13; AA sequence).				O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6861C>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672531|2.672531	0.47781|0.47781	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	T;T;T;T|.	0.60299|.	0.2;0.2;0.2;0.2|.	4.77|4.77	2.42|2.42	0.29668|0.29668	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);|.	0.060691|.	0.64402|.	D|.	0.000003|.	T|T	0.67776|0.67776	0.2929|0.2929	M|M	0.86028|0.86028	2.79|2.79	0.38299|0.38299	D|D	0.942932|0.942932	D;P;D|.	0.69078|.	0.996;0.941;0.997|.	D;P;D|.	0.72625|.	0.934;0.761;0.978|.	T|T	0.67309|0.67309	-0.5703|-0.5703	10|5	0.87932|.	D|.	0|.	.|.	5.7828|5.7828	0.18316|0.18316	0.0:0.2214:0.0:0.7786|0.0:0.2214:0.0:0.7786	.|.	420;657;2287|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	L|N	2230;1093;2287;657;420|743;83	ENSP00000367100:F2230L;ENSP00000220616:F2287L;ENSP00000441693:F657L;ENSP00000430430:F420L|.	ENSP00000220616:F2287L|.	F|H	+|+	3|1	2|0	TG|TG	134101107|134101107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.473000|0.473000	0.32948|0.32948	1.469000|1.469000	0.35343|0.35343	0.348000|0.348000	0.23949|0.23949	-0.302000|-0.302000	0.09304|0.09304	TTC|CAT		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	34	1	0	4.63292e-17	1	6.19965e-17	20	34				
CNTNAP3	79937	broad.mit.edu	37	9	39140537	39140537	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:39140537G>T	ENST00000297668.6	-	12	1928	c.1855C>A	c.(1855-1857)Ctt>Att	p.L619I	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L619I|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L531I|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L619I|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L526I	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	619	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGTACACAAGAAATGGTCCC	0.433																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1855-1857)Ctt>Att		contactin associated protein-like 3							54.0	63.0	60.0					9																	39140537		2203	4300	6503	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39140537G>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1855C>A	9.37:g.39140537G>T	ENSP00000297668:p.Leu619Ile					CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L619I|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L619I|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L526I|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L531I	p.L619I	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	12	1928	-			619			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1855C>A	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561897	0.27915	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	2.85	1.93	0.25924	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (5);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.15522	0.0374	M	0.81341	2.54	0.09310	N	1	P;B;P;P;B	0.51791	0.948;0.417;0.529;0.793;0.241	P;B;B;B;B	0.46362	0.514;0.176;0.355;0.36;0.147	T	0.16394	-1.0404	9	0.19147	T	0.46	.	5.3117	0.15833	0.1236:0.2083:0.6681:0.0	.	526;619;619;619;619	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	I	619;619;531;526;619	ENSP00000297668:L619I;ENSP00000366884:L619I;ENSP00000350863:L531I;ENSP00000320728:L526I;ENSP00000366887:L619I	ENSP00000297668:L619I	L	-	1	0	CNTNAP3	39130537	0.371000	0.25056	0.052000	0.19188	0.964000	0.63967	3.433000	0.52834	0.524000	0.28502	0.440000	0.28878	CTT		0.433	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		26	51	1	0	2.79863e-10	1	3.42475e-10	26	51				
TRAJ53	28702	broad.mit.edu	37	14	22951884	22951884	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:22951884A>C	ENST00000390485.1	+	0	0				TRAJ54_ENST00000390484.1_RNA|AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA					T cell receptor alpha joining 53																		ATAACCTATAAACCTGTAGCT	0.388																																						ENST00000514473.2																			0																																																			0							g.chr14:22951884A>C	M94081		14q11.2	2012-02-07			ENSG00000211837	ENSG00000211837		"""T cell receptors / TRA locus"""	12085	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170914		14.37:g.22951884A>C														0	64	-									RNA	SNP	ENST00000390485.1	37																																																																																						0.388	TRAJ53-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410945.1	NG_001332		9	10	0	0	0	1	0	9	10				
KIAA0226L	80183	broad.mit.edu	37	13	46942916	46942916	+	Silent	SNP	C	C	T	rs143042360	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:46942916C>T	ENST00000429979.1	-	4	1174	c.570G>A	c.(568-570)tcG>tcA	p.S190S	KIAA0226L_ENST00000389908.3_Silent_p.S190S|KIAA0226L_ENST00000409879.2_Silent_p.S33S|KIAA0226L_ENST00000378784.4_Silent_p.S123S|KIAA0226L_ENST00000322896.6_Silent_p.S33S|KIAA0226L_ENST00000378781.3_Silent_p.S190S|KIAA0226L_ENST00000378797.2_Silent_p.S190S|KIAA0226L_ENST00000378787.3_Silent_p.S190S|KIAA0226L_ENST00000534925.1_Silent_p.S55S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	190								p.S190S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGAAGGAATTCGAAGAAATGG	0.343													C|||	3	0.000599042	0.0	0.0	5008	,	,		16557	0.0		0.0	False		,,,				2504	0.0031					ENST00000429979.1																			1	Substitution - coding silent(1)	p.S190S(1)	large_intestine(1)	NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(568-570)tcG>tcA		KIAA0226-like		C		4,4402	8.1+/-20.4	0,4,2199	129.0	132.0	131.0		570	3.3	1.0	13	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	KIAA0226L	NM_025113.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		190/663	46942916	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	80183							g.chr13:46942916C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.570G>A	13.37:g.46942916C>T						KIAA0226L_ENST00000378797.2_Silent_p.S190S|KIAA0226L_ENST00000378787.3_Silent_p.S190S|KIAA0226L_ENST00000534925.1_Silent_p.S55S|KIAA0226L_ENST00000378784.4_Silent_p.S123S|KIAA0226L_ENST00000409879.2_Silent_p.S33S|KIAA0226L_ENST00000389908.3_Silent_p.S190S|KIAA0226L_ENST00000322896.6_Silent_p.S33S|KIAA0226L_ENST00000378781.3_Silent_p.S190S	p.S190S	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			4	1174	-			190					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	37	c.570G>A	CCDS31970.2																																																																																				0.343	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		30	60	0	0	0	1	0	30	60				
CCBE1	147372	broad.mit.edu	37	18	57363940	57363940	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57363940C>A	ENST00000439986.4	-	2	170	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	45					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GAGCAGATTTCTCTATGAAAA	0.587											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.e2-1		collagen and calcium binding EGF domains 1							84.0	89.0	87.0					18																	57363940		2203	4300	6503	SO:0001630	splice_region_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57363940C>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.132-1G>T	18.37:g.57363940C>A			OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1022	RP11-2N1.2_ENST00000588946.1_RNA	p.E45_splice	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN			2	170	-		Colorectal(73;0.175)	45					Q6MZX5|Q86SS2|Q8TF19	Splice_Site	SNP	ENST00000439986.4	37	c.131_splice	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385706	0.95967	.	.	ENSG00000183287	ENST00000439986	.	.	.	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.1934	15.2911	0.73868	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000404464:E45X	E	-	1	0	CCBE1	55514920	1.000000	0.71417	0.982000	0.44146	0.242000	0.25591	4.408000	0.59761	2.677000	0.91161	0.491000	0.48974	GAA		0.587	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	Nonsense_Mutation	24	51	1	0	3.83957e-06	1	4.27438e-06	24	51				
CD99L2	83692	broad.mit.edu	37	X	149983348	149983348	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149983348A>G	ENST00000370377.3	-	4	381	c.264T>C	c.(262-264)ggT>ggC	p.G88G	CD99L2_ENST00000437787.2_Silent_p.G88G|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	88					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCCTATACCCGGTTTCC	0.473																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(262-264)ggT>ggC		CD99 molecule-like 2							178.0	165.0	169.0					X																	149983348		2203	4300	6503	SO:0001819	synonymous_variant	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149983348A>G	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.264T>C	X.37:g.149983348A>G						CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_Silent_p.G88G|CD99L2_ENST00000355149.3_Intron	p.G88G	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			4	381	-	Acute lymphoblastic leukemia(192;6.56e-05)		88					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Silent	SNP	ENST00000370377.3	37	c.264T>C	CCDS35427.1																																																																																				0.473	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		49	97	0	0	0	1	0	49	97				
NR5A2	2494	broad.mit.edu	37	1	200017907	200017907	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:200017907C>T	ENST00000367362.3	+	5	1317	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V	NR5A2_ENST00000544748.1_Silent_p.V285V|NR5A2_ENST00000236914.3_Silent_p.V311V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	357	Ligand-binding.				bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TCTCCATTGTCGAGTGGGCCA	0.458																																					Melanoma(179;1138 2773 15678 26136)	ENST00000367362.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1069-1071)gtC>gtT		nuclear receptor subfamily 5, group A, member 2							138.0	137.0	137.0					1																	200017907		2203	4300	6503	SO:0001819	synonymous_variant	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017907C>T	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1071C>T	1.37:g.200017907C>T						NR5A2_ENST00000544748.1_Silent_p.V285V|NR5A2_ENST00000236914.3_Silent_p.V311V	p.V357V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN			5	1317	+	Prostate(682;0.19)		357			Ligand-binding.		B4E2P3|O95642|Q147U3	Silent	SNP	ENST00000367362.3	37	c.1071C>T	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	C	5.993	0.367075	0.11352	.	.	ENSG00000116833	ENST00000367357	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	T	0.56187	0.1968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74453	-0.3660	4	.	.	.	.	12.9974	0.58654	0.0:0.2946:0.4846:0.2208	.	.	.	.	L	278	.	.	S	+	2	0	NR5A2	198284530	0.006000	0.16342	0.035000	0.18076	0.968000	0.65278	-1.441000	0.02409	-4.336000	0.00055	-1.073000	0.02249	TCG		0.458	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			43	82	0	0	0	1	0	43	82				
DYM	54808	broad.mit.edu	37	18	46570519	46570519	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:46570519A>C	ENST00000269445.6	-	17	2373	c.1916T>G	c.(1915-1917)tTt>tGt	p.F639C	DYM_ENST00000442713.2_Missense_Mutation_p.F449C|RP11-15F12.1_ENST00000584252.1_RNA	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	639					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATAGGGGATAAAAAACTCCTC	0.443																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1915-1917)tTt>tGt		dymeclin							126.0	139.0	135.0					18																	46570519		2203	4300	6503	SO:0001583	missense	54808					Golgi apparatus		g.chr18:46570519A>C	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1916T>G	18.37:g.46570519A>C	ENSP00000269445:p.Phe639Cys					RP11-15F12.1_ENST00000584252.1_RNA|DYM_ENST00000442713.2_Missense_Mutation_p.F449C	p.F639C	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			17	2373	-			639					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.1916T>G	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455008	0.84209	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.93659	-3.26;-3.26	5.91	5.91	0.95273	.	0.060581	0.64402	D	0.000003	D	0.96950	0.9004	M	0.84948	2.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.992;0.997	D	0.97553	1.0093	10	0.87932	D	0	-21.9725	16.0218	0.80503	1.0:0.0:0.0:0.0	.	449;639	Q7RTS9-2;Q7RTS9	.;DYM_HUMAN	C	449;639	ENSP00000395942:F449C;ENSP00000269445:F639C	ENSP00000269445:F639C	F	-	2	0	DYM	44824517	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	9.117000	0.94347	2.254000	0.74563	0.533000	0.62120	TTT		0.443	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		66	118	0	0	0	1	0	66	118				
FAM122C	159091	broad.mit.edu	37	X	133988254	133988254	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133988254A>G	ENST00000370784.4	+	7	982	c.576A>G	c.(574-576)caA>caG	p.Q192Q	FAM122C_ENST00000445123.1_3'UTR|FAM122C_ENST00000370785.3_3'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	192										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					CTAGTAGACAAACTTTCAACT	0.418																																						ENST00000370784.4																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(574-576)caA>caG		family with sequence similarity 122C							159.0	110.0	125.0					X																	133988254		692	1591	2283	SO:0001819	synonymous_variant	159091							g.chrX:133988254A>G	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.576A>G	X.37:g.133988254A>G						FAM122C_ENST00000370785.3_3'UTR|FAM122C_ENST00000445123.1_3'UTR	p.Q192Q	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN			7	982	+	Acute lymphoblastic leukemia(192;0.000127)		192					F5H036|Q8WVK9	Silent	SNP	ENST00000370784.4	37	c.576A>G	CCDS55501.1																																																																																				0.418	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		8	10	0	0	0	1	0	8	10				
CACNA2D3	55799	broad.mit.edu	37	3	54604114	54604114	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:54604114T>G	ENST00000474759.1	+	8	919	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.F197V|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.F291V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.F291V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	291	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GGATGATGACTTCTTCAACAT	0.443																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(871-873)Ttc>Gtc		calcium channel, voltage-dependent, alpha 2/delta subunit 3							237.0	226.0	229.0					3																	54604114		2039	4188	6227	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54604114T>G	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.871T>G	3.37:g.54604114T>G	ENSP00000419101:p.Phe291Val					CACNA2D3_ENST00000490478.1_Missense_Mutation_p.F197V|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.F291V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.F291V	p.F291V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	8	919	+			291			VWFA.		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.871T>G	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509038	0.85282	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.29	5.29	0.74685	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.82630	2.6	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.44174	-0.9345	10	0.72032	D	0.01	.	15.5269	0.75919	0.0:0.0:0.0:1.0	.	291	Q8IZS8	CA2D3_HUMAN	V	291;291;291;197;197;196	ENSP00000389506:F291V;ENSP00000419101:F291V;ENSP00000288197:F291V;ENSP00000417279:F197V	ENSP00000288197:F291V	F	+	1	0	CACNA2D3	54579154	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.945000	0.87732	2.128000	0.65567	0.528000	0.53228	TTC		0.443	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			10	101	0	0	0	1	0	10	101				
ZNF599	148103	broad.mit.edu	37	19	35251258	35251258	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35251258A>C	ENST00000329285.8	-	4	821	c.448T>G	c.(448-450)Ttg>Gtg	p.L150V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	150					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)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTATAACTCAACTTCTCAGGG	0.453																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(448-450)Ttg>Gtg		zinc finger protein 599							135.0	140.0	139.0					19																	35251258		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251258A>C	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.448T>G	19.37:g.35251258A>C	ENSP00000333802:p.Leu150Val						p.L150V	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	821	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		150					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.448T>G	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.817745	0.00595	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.21543	2.0	2.57	-1.8	0.07907	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	0.09310	N	1	P	0.44659	0.84	B	0.43225	0.412	T	0.27054	-1.0085	9	0.40728	T	0.16	.	9.3423	0.38087	0.3236:0.0:0.6764:0.0	.	150	Q96NL3	ZN599_HUMAN	V	149;150	ENSP00000333802:L150V	ENSP00000333802:L150V	L	-	1	2	ZNF599	39943098	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-1.849000	0.01672	-0.530000	0.06349	0.402000	0.26972	TTG		0.453	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		22	81	0	0	0	1	0	22	81				
PRSS8	5652	broad.mit.edu	37	16	31143831	31143831	+	Silent	SNP	G	G	A	rs148214625	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31143831G>A	ENST00000317508.6	-	5	887	c.624C>T	c.(622-624)gaC>gaT	p.D208D	RP11-388M20.2_ENST00000563605.1_RNA|PRSS8_ENST00000568261.1_Silent_p.D154D	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						CAGGCTTGGCGTCGATGTTGT	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		19538	0.0		0.002	False		,,,				2504	0.0					ENST00000317508.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(622-624)gaC>gaT		protease, serine, 8		G		1,4247		0,1,2123	103.0	110.0	108.0		624	-6.3	0.0	16	dbSNP_134	108	4,8458		0,4,4227	no	coding-synonymous	PRSS8	NM_002773.3		0,5,6350	AA,AG,GG		0.0473,0.0235,0.0393		208/344	31143831	5,12705	2124	4231	6355	SO:0001819	synonymous_variant	5652				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr16:31143831G>A	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.624C>T	16.37:g.31143831G>A						PRSS8_ENST00000568261.1_Silent_p.D154D	p.D208D	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN			5	887	-			208			Peptidase S1.		B4DWP2|Q9UCA3	Silent	SNP	ENST00000317508.6	37	c.624C>T	CCDS45469.1																																																																																				0.607	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		25	46	0	0	0	1	0	25	46				
HABP2	3026	broad.mit.edu	37	10	115337894	115337894	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115337894C>A	ENST00000351270.3	+	6	654	c.558C>A	c.(556-558)ttC>ttA	p.F186L	HABP2_ENST00000541666.1_Missense_Mutation_p.F186L|HABP2_ENST00000537906.1_Missense_Mutation_p.S175Y|HABP2_ENST00000542051.1_Missense_Mutation_p.F160L	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	186	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AGGGGAAATTCTGTGAAATAG	0.537																																						ENST00000351270.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(556-558)ttC>ttA		hyaluronan binding protein 2							90.0	83.0	85.0					10																	115337894		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115337894C>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.558C>A	10.37:g.115337894C>A	ENSP00000277903:p.Phe186Leu					HABP2_ENST00000537906.1_Missense_Mutation_p.S175Y|HABP2_ENST00000541666.1_Missense_Mutation_p.F186L|HABP2_ENST00000542051.1_Missense_Mutation_p.F160L	p.F186L	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	6	654	+		Colorectal(252;0.0233)|Breast(234;0.0672)	186			EGF-like 3.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.558C>A	CCDS7577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.67|10.67	1.415161|1.415161	0.25552|0.25552	.|.	.|.	ENSG00000148702|ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666|ENST00000537906	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	5.54|5.54	3.61|3.61	0.41365|0.41365	Kringle-like fold (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.264640|.	0.44688|.	N|.	0.000423|.	T|T	0.24699|0.24699	0.0599|0.0599	N|N	0.25890|0.25890	0.77|0.77	0.23204|0.23204	N|N	0.998127|0.998127	B|B	0.24317|0.33448	0.101|0.412	B|B	0.28465|0.32583	0.09|0.148	T|T	0.18147|0.18147	-1.0346|-1.0346	10|8	0.30078|0.87932	T|D	0.28|0	.|.	6.6262|6.6262	0.22830|0.22830	0.2766:0.6083:0.0:0.1151|0.2766:0.6083:0.0:0.1151	.|.	186|175	Q14520|F5H475	HABP2_HUMAN|.	L|Y	160;186;186|175	ENSP00000443283:F160L;ENSP00000277903:F186L;ENSP00000438373:F186L|.	ENSP00000277903:F186L|ENSP00000446135:S175Y	F|S	+|+	3|2	2|0	HABP2|HABP2	115327884|115327884	0.999000|0.999000	0.42202|0.42202	0.986000|0.986000	0.45419|0.45419	0.400000|0.400000	0.30750|0.30750	0.699000|0.699000	0.25586|0.25586	1.332000|1.332000	0.45431|0.45431	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.537	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		33	34	1	0	3.62531e-18	1	4.89791e-18	33	34				
PTPN22	26191	broad.mit.edu	37	1	114372580	114372580	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114372580C>T	ENST00000359785.5	-	17	2260	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	PTPN22_ENST00000525799.1_Missense_Mutation_p.D582N|PTPN22_ENST00000420377.2_Missense_Mutation_p.D709N|RP5-1073O3.2_ENST00000448199.1_RNA|PTPN22_ENST00000528414.1_Missense_Mutation_p.D654N|PTPN22_ENST00000538253.1_Missense_Mutation_p.D465N|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	709					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAATCTTCATCGGCAAGAAAG	0.353																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2125-2127)Gat>Aat		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							59.0	61.0	60.0					1																	114372580		2202	4300	6502	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114372580C>T	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.2125G>A	1.37:g.114372580C>T	ENSP00000352833:p.Asp709Asn					PTPN22_ENST00000538253.1_Missense_Mutation_p.D465N|PTPN22_ENST00000525799.1_Missense_Mutation_p.D582N|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.D654N|PTPN22_ENST00000420377.2_Missense_Mutation_p.D709N	p.D709N	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	17	2260	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	709					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.2125G>A	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640717	0.87859	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799	T;T;T;T;T	0.35048	3.61;3.24;1.33;3.31;2.71	5.84	5.84	0.93424	.	0.081904	0.52532	D	0.000077	T	0.50837	0.1639	M	0.64404	1.975	0.44142	D	0.996935	P;D;P;D;P	0.89917	0.58;0.991;0.742;1.0;0.932	B;B;B;D;B	0.91635	0.126;0.349;0.204;0.999;0.204	T	0.41645	-0.9497	10	0.45353	T	0.12	.	17.0719	0.86576	0.0:1.0:0.0:0.0	.	465;582;709;654;709	F5H2S8;E9PPI1;E9PMT0;E9PLD8;Q9Y2R2	.;.;.;.;PTN22_HUMAN	N	709;654;465;709;582	ENSP00000352833:D709N;ENSP00000435176:D654N;ENSP00000439372:D465N;ENSP00000388229:D709N;ENSP00000432674:D582N	ENSP00000352833:D709N	D	-	1	0	PTPN22	114174103	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.990000	0.29642	2.760000	0.94817	0.655000	0.94253	GAT		0.353	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		9	20	0	0	0	1	0	9	20				
GJA1	2697	broad.mit.edu	37	6	121768608	121768608	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:121768608G>T	ENST00000282561.3	+	2	772	c.615G>T	c.(613-615)gaG>gaT	p.E205D		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	205					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GCCCCACGGAGAAAACCATCT	0.473																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(613-615)gaG>gaT		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						151.0	147.0	148.0					6																	121768608		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768608G>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.615G>T	6.37:g.121768608G>T	ENSP00000282561:p.Glu205Asp						p.E205D	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	772	+			205					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.615G>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866825	0.72065	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.99186	-5.53	5.81	4.94	0.65067	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	H	0.97611	4.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97812	1.0251	10	0.87932	D	0	.	14.8123	0.70006	0.0692:0.0:0.9308:0.0	.	205	P17302	CXA1_HUMAN	D	189;205	ENSP00000282561:E205D	ENSP00000282561:E205D	E	+	3	2	GJA1	121810307	1.000000	0.71417	0.999000	0.59377	0.777000	0.43975	3.463000	0.53050	1.463000	0.47967	0.460000	0.39030	GAG		0.473	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		32	65	1	0	2.81731e-10	1	3.44686e-10	32	65				
OR5D14	219436	broad.mit.edu	37	11	55563587	55563587	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55563587C>T	ENST00000335605.1	+	1	556	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	186						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)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTATACTGCTCTCATCTCTGT	0.468																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(556-558)Ctc>Ttc		olfactory receptor, family 5, subfamily D, member 14							220.0	216.0	217.0					11																	55563587		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563587C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.556C>T	11.37:g.55563587C>T	ENSP00000334456:p.Leu186Phe						p.L186F	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	556	+		all_epithelial(135;0.196)	186					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.556C>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	8.463	0.855779	0.17106	.	.	ENSG00000186113	ENST00000335605	T	0.00231	8.49	5.08	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40818	N	0.001005	T	0.00552	0.0018	M	0.87269	2.87	0.09310	N	1	D	0.67145	0.996	D	0.72625	0.978	T	0.29971	-0.9994	10	0.87932	D	0	-27.3318	9.3135	0.37919	0.2893:0.5704:0.1402:0.0	.	186	Q8NGL3	OR5DE_HUMAN	F	186	ENSP00000334456:L186F	ENSP00000334456:L186F	L	+	1	0	OR5D14	55320163	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-1.750000	0.01822	0.496000	0.27904	-0.196000	0.12772	CTC		0.468	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		60	92	0	0	0	1	0	60	92				
SCEL	8796	broad.mit.edu	37	13	78202083	78202083	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78202083G>A	ENST00000349847.3	+	28	1714	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N	SCEL_ENST00000377246.3_Splice_Site_p.D524N|SCEL_ENST00000535157.1_Splice_Site_p.D502N	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	544	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTTCCTTAGAGACCAGAACCT	0.249																																						ENST00000535157.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.e26-1		sciellin							25.0	29.0	28.0					13																	78202083		2125	4212	6337	SO:0001630	splice_region_variant	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78202083G>A	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1629-1G>A	13.37:g.78202083G>A						SCEL_ENST00000377246.3_Splice_Site_p.D524_splice|SCEL_ENST00000349847.3_Splice_Site_p.D544_splice	p.D502_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	26	1674	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	544			16 X approximate tandem repeats.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Splice_Site	SNP	ENST00000349847.3	37	c.1502_splice	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655298	0.47467	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.24908	1.83;1.83;1.83	4.94	4.94	0.65067	.	0.119926	0.37530	N	0.002048	T	0.34774	0.0909	M	0.63428	1.95	0.29709	N	0.839565	P;P;P	0.51933	0.949;0.949;0.949	P;P;P	0.49192	0.602;0.52;0.602	T	0.26950	-1.0088	10	0.40728	T	0.16	-0.9255	13.5263	0.61597	0.0:0.0:1.0:0.0	.	502;524;544	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	N	502;524;544	ENSP00000437895:D502N;ENSP00000366454:D524N;ENSP00000302579:D544N	ENSP00000302579:D544N	D	+	1	0	SCEL	77100084	1.000000	0.71417	0.998000	0.56505	0.112000	0.19704	2.180000	0.42537	2.572000	0.86782	0.591000	0.81541	GAC		0.249	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	Missense_Mutation	14	15	0	0	0	1	0	14	15				
ZNF75D	7626	broad.mit.edu	37	X	134427749	134427749	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134427749C>A	ENST00000370766.3	-	3	3027	c.318G>T	c.(316-318)caG>caT	p.Q106H	ZNF75D_ENST00000370764.1_Missense_Mutation_p.Q106H|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCACCCAGTTCTGGGTCTCCT	0.502																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(316-318)caG>caT		zinc finger protein 75D							83.0	76.0	78.0					X																	134427749		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134427749C>A	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.318G>T	X.37:g.134427749C>A	ENSP00000359802:p.Gln106His					ZNF75D_ENST00000370764.1_Missense_Mutation_p.Q106H|ZNF75D_ENST00000494295.1_Intron	p.Q106H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			3	3027	-			106			SCAN box.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.318G>T	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	8.458	0.854676	0.17106	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.05786	3.39;3.39	3.13	1.33	0.21861	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.27866	0.0686	H	0.94542	3.55	0.09310	N	1	D;D	0.71674	0.998;0.995	D;D	0.69307	0.963;0.933	T	0.07770	-1.0755	9	0.87932	D	0	.	4.8224	0.13398	0.0:0.6915:0.0:0.3085	.	106;106	P51815;A6NK62	ZN75D_HUMAN;.	H	106	ENSP00000359802:Q106H;ENSP00000359800:Q106H	ENSP00000359800:Q106H	Q	-	3	2	ZNF75D	134255415	0.915000	0.31059	0.001000	0.08648	0.184000	0.23303	3.697000	0.54764	0.228000	0.21019	0.509000	0.49947	CAG		0.502	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		36	82	1	0	3.6622e-26	1	5.17531e-26	36	82				
TCN1	6947	broad.mit.edu	37	11	59620703	59620703	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59620703G>A	ENST00000257264.3	-	8	1317	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	405	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCCACTCAGAAGTTCCCAG	0.522																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1213-1215)Ctg>Ttg		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						209.0	203.0	205.0					11																	59620703		2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620703G>A	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1213C>T	11.37:g.59620703G>A							p.L405L	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			8	1317	-		all_epithelial(135;0.198)	405					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.1213C>T	CCDS7978.1																																																																																				0.522	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		74	133	0	0	0	1	0	74	133				
SPANXN1	494118	broad.mit.edu	37	X	144337190	144337190	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144337190G>T	ENST00000370493.3	+	2	834		c.e2-1			NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1									p.?(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTAACAGATGCAGGAGA	0.443																																						ENST00000370493.3																			2	Unknown(2)	p.?(2)	lung(2)	endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.e2-1		SPANX family, member N1							85.0	82.0	83.0					X																	144337190		2203	4297	6500	SO:0001630	splice_region_variant	494118							g.chrX:144337190G>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.76-1G>T	X.37:g.144337190G>T								NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	834	+	Acute lymphoblastic leukemia(192;6.56e-05)								Splice_Site	SNP	ENST00000370493.3	37		CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	0.089	-1.169798	0.01660	.	.	ENSG00000203923	ENST00000370493	.	.	.	1.64	-2.36	0.06663	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5569	0.00672	0.1823:0.2389:0.3353:0.2435	.	.	.	.	.	-1	.	.	.	+	.	.	SPANXN1	144144882	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.699000	0.05087	-0.716000	0.04962	-2.006000	0.00442	.		0.443	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614	Intron	22	71	1	0	2.37509e-13	1	3.04217e-13	22	71				
SLC6A11	6538	broad.mit.edu	37	3	10970992	10970992	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:10970992C>A	ENST00000254488.2	+	10	1404	c.1338C>A	c.(1336-1338)atC>atA	p.I446I		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	446					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGTCTGTTATCTCCTATTTTC	0.567																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1336-1338)atC>atA		solute carrier family 6 (neurotransmitter transporter), member 11							225.0	205.0	212.0					3																	10970992		2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10970992C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1338C>A	3.37:g.10970992C>A							p.I446I	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	10	1404	+			446					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.1338C>A	CCDS2602.1																																																																																				0.567	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		42	82	1	0	8.69298e-16	1	1.14932e-15	42	82				
MYH11	4629	broad.mit.edu	37	16	15833968	15833968	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:15833968C>A	ENST00000300036.5	-	23	3046	c.2937G>T	c.(2935-2937)aaG>aaT	p.K979N	MYH11_ENST00000452625.2_Missense_Mutation_p.K986N|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.2_Missense_Mutation_p.K979N|MYH11_ENST00000396324.3_Missense_Mutation_p.K986N	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	979					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.K979N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTTTCTTGATCTTGGCCTCAG	0.507			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		1	Substitution - Missense(1)	p.K979N(1)	large_intestine(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2935-2937)aaG>aaT		myosin, heavy chain 11, smooth muscle							164.0	144.0	151.0					16																	15833968		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15833968C>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2937G>T	16.37:g.15833968C>A	ENSP00000300036:p.Lys979Asn					MYH11_ENST00000300036.5_Missense_Mutation_p.K979N|MYH11_ENST00000396324.3_Missense_Mutation_p.K986N|MYH11_ENST00000576790.1_Missense_Mutation_p.K979N|MYH11_ENST00000452625.2_Missense_Mutation_p.K986N	p.K979N	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			23	3043	-			979					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2937G>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708064	0.68615	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	4.28	2.27	0.28462	.	0.247105	0.39475	N	0.001359	D	0.96131	0.8739	M	0.78285	2.405	0.58432	D	0.999997	D;D;D;D;D	0.69078	0.997;0.991;0.991;0.991;0.991	D;P;P;P;D	0.67382	0.951;0.881;0.881;0.881;0.938	D	0.95350	0.8446	10	0.87932	D	0	.	9.6071	0.39641	0.0:0.8231:0.0:0.1769	.	986;979;986;979;986	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	N	979;979;986;986;986	ENSP00000300036:K979N;ENSP00000345136:K979N;ENSP00000379616:K986N;ENSP00000407821:K986N	ENSP00000300036:K979N	K	-	3	2	MYH11	15741469	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.060000	0.41394	0.802000	0.34089	0.486000	0.48141	AAG		0.507	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		37	75	1	0	9.85521e-28	1	1.39762e-27	37	75				
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34045776G>A	ENST00000322229.7	-	13	1599	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	SYNJ1_ENST00000382499.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*			O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388																																						ENST00000382499.2																			2	Substitution - Nonsense(2)	p.R534*(2)	large_intestine(2)	breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1717-1719)Cga>Tga		synaptojanin 1							95.0	91.0	92.0					21																	34045776		2203	4300	6503	SO:0001587	stop_gained	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34045776G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1600C>T	21.37:g.34045776G>A	ENSP00000322234:p.Arg534*					SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.R534*	p.R573*	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			14	1716	-			534			Catalytic (Potential).		O43425|O94984|Q4KMR1	Nonsense_Mutation	SNP	ENST00000322229.7	37	c.1717C>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	37	6.465883	0.97590	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	.	.	.	5.25	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4524	0.75282	0.0:0.0:0.8599:0.1401	.	.	.	.	X	529;534;573;573;534;529	.	ENSP00000322234:R534X	R	-	1	2	SYNJ1	32967647	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.743000	0.62110	1.336000	0.45506	0.460000	0.39030	CGA		0.388	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				14	26	0	0	0	1	0	14	26				
IL31RA	133396	broad.mit.edu	37	5	55195809	55195809	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55195809C>T	ENST00000447346.2	+	8	983	c.918C>T	c.(916-918)agC>agT	p.S306S	IL31RA_ENST00000354961.4_Silent_p.S287S|IL31RA_ENST00000490985.1_Silent_p.S164S|IL31RA_ENST00000359040.5_Silent_p.S306S|IL31RA_ENST00000396834.1_Silent_p.S287S|IL31RA_ENST00000297015.3_Silent_p.S164S|IL31RA_ENST00000396836.2_Silent_p.S306S	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	274	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCCAGAAAGCAACACTAACC	0.413																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(859-861)agC>agT		interleukin 31 receptor A							130.0	131.0	131.0					5																	55195809		2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55195809C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.918C>T	5.37:g.55195809C>T						IL31RA_ENST00000396836.2_Silent_p.S306S|IL31RA_ENST00000447346.2_Silent_p.S306S|IL31RA_ENST00000490985.1_Silent_p.S164S|IL31RA_ENST00000354961.4_Silent_p.S287S|IL31RA_ENST00000359040.5_Silent_p.S306S|IL31RA_ENST00000297015.3_Silent_p.S164S	p.S287S	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			10	1357	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	274			Fibronectin type-III 3.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.861C>T	CCDS3970.2																																																																																				0.413	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		47	70	0	0	0	1	0	47	70				
CLSTN2	64084	broad.mit.edu	37	3	140123599	140123599	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:140123599G>A	ENST00000458420.3	+	4	818	c.628G>A	c.(628-630)Gac>Aac	p.D210N	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	210	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTTTGCCATCGACAGAAATGG	0.527										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(628-630)Gac>Aac		calsyntenin 2							89.0	80.0	83.0					3																	140123599		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140123599G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.628G>A	3.37:g.140123599G>A	ENSP00000402460:p.Asp210Asn	HNSCC(16;0.037)					p.D210N	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			4	818	+			210			Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.628G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040911	0.93685	.	.	ENSG00000158258	ENST00000458420	T	0.52295	0.67	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61554	-0.7039	10	0.33141	T	0.24	-0.794	17.2492	0.87037	0.0:0.0:1.0:0.0	.	210	Q9H4D0	CSTN2_HUMAN	N	210	ENSP00000402460:D210N	ENSP00000402460:D210N	D	+	1	0	CLSTN2	141606289	1.000000	0.71417	0.984000	0.44739	0.765000	0.43378	9.731000	0.98807	2.665000	0.90641	0.563000	0.77884	GAC		0.527	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		17	73	0	0	0	1	0	17	73				
DDB1	1642	broad.mit.edu	37	11	61081881	61081881	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:61081881C>A	ENST00000301764.7	-	13	1885	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	496	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CACTGATGTTCTTGGCCTGAG	0.532								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1486-1488)aaG>aaT	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							168.0	157.0	161.0					11																	61081881		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61081881C>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1488G>T	11.37:g.61081881C>A	ENSP00000301764:p.Lys496Asn					DDB1_ENST00000450997.2_Intron	p.K496N	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			13	1885	-			496			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.1488G>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858191	0.32791	.	.	ENSG00000167986	ENST00000301764;ENST00000537877;ENST00000535967;ENST00000539739	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);	0.044348	0.85682	D	0.000000	T	0.50120	0.1597	M	0.82517	2.595	0.80722	D	1	B	0.22480	0.07	B	0.27170	0.077	T	0.49634	-0.8919	10	0.45353	T	0.12	-28.184	14.5751	0.68240	0.146:0.854:0.0:0.0	.	496	Q16531	DDB1_HUMAN	N	496;60;147;215	ENSP00000301764:K496N;ENSP00000442732:K60N;ENSP00000437713:K147N;ENSP00000445563:K215N	ENSP00000301764:K496N	K	-	3	2	DDB1	60838457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.137000	0.50562	2.693000	0.91896	0.650000	0.86243	AAG		0.532	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		13	176	1	0	5.50884e-06	1	6.10489e-06	13	176				
TAOK3	51347	broad.mit.edu	37	12	118675943	118675943	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118675943G>A	ENST00000392533.3	-	7	862	c.372C>T	c.(370-372)atC>atT	p.I124I	TAOK3_ENST00000419821.2_Silent_p.I124I	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATGGCAGCGATCTCCACTT	0.363																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(370-372)atC>atT		TAO kinase 3							142.0	127.0	132.0					12																	118675943		2203	4300	6503	SO:0001819	synonymous_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118675943G>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.372C>T	12.37:g.118675943G>A						TAOK3_ENST00000419821.2_Silent_p.I124I	p.I124I	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			7	862	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		124			Protein kinase.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	c.372C>T	CCDS9188.1																																																																																				0.363	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		23	55	0	0	0	1	0	23	55				
PIP4K2B	8396	broad.mit.edu	37	17	36933975	36933975	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:36933975T>G	ENST00000269554.3	-	7	1252	c.772A>C	c.(772-774)Aag>Cag	p.K258Q	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	258	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGGAAGTTCTTTTTACTCTCC	0.473																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(772-774)Aag>Cag		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							200.0	185.0	190.0					17																	36933975		2203	4300	6503	SO:0001583	missense	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36933975T>G	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.772A>C	17.37:g.36933975T>G	ENSP00000269554:p.Lys258Gln					PIP4K2B_ENST00000311500.6_5'UTR	p.K258Q	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			7	1252	-			258			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.772A>C	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355609	0.61293	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.36878	1.23	4.74	4.74	0.60224	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.43646	1.37	0.80722	D	1	B;B;B	0.21071	0.005;0.004;0.051	B;B;B	0.32090	0.006;0.003;0.14	T	0.13442	-1.0509	10	0.33940	T	0.23	-24.4154	13.4902	0.61390	0.0:0.0:0.0:1.0	.	258;258;258	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	Q	258	ENSP00000269554:K258Q	ENSP00000269554:K258Q	K	-	1	0	PIP4K2B	34187501	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.482000	0.81143	2.128000	0.65567	0.459000	0.35465	AAG		0.473	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		35	62	0	0	0	1	0	35	62				
TIFA	92610	broad.mit.edu	37	4	113199456	113199456	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113199456C>A	ENST00000361717.3	-	2	398	c.117G>T	c.(115-117)gaG>gaT	p.E39D	TIFA_ENST00000500655.2_Missense_Mutation_p.E39D	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	39					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		AAGGGAGTTTCTCTCTGTTAA	0.428																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(115-117)gaG>gaT		TRAF-interacting protein with forkhead-associated domain							86.0	94.0	91.0					4																	113199456		2203	4298	6501	SO:0001583	missense	92610						protein binding	g.chr4:113199456C>A	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.117G>T	4.37:g.113199456C>A	ENSP00000354911:p.Glu39Asp					TIFA_ENST00000500655.2_Missense_Mutation_p.E39D	p.E39D	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	398	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	39						Missense_Mutation	SNP	ENST00000361717.3	37	c.117G>T	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148546	0.21288	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.48522	0.81;0.81	5.92	-0.819	0.10829	.	0.482216	0.25631	N	0.029354	T	0.27731	0.0682	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.06643	-1.0815	10	0.32370	T	0.25	-15.3562	1.7436	0.02958	0.2092:0.3896:0.1031:0.298	.	39	Q96CG3	TIFA_HUMAN	D	39	ENSP00000354911:E39D;ENSP00000424231:E39D	ENSP00000354911:E39D	E	-	3	2	TIFA	113418905	0.397000	0.25270	0.749000	0.31150	0.477000	0.33069	-0.336000	0.07863	0.088000	0.17205	-0.156000	0.13503	GAG		0.428	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		38	62	1	0	4.00102e-26	1	5.65269e-26	38	62				
DHX35	60625	broad.mit.edu	37	20	37621001	37621001	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37621001T>C	ENST00000252011.3	+	7	548	c.515T>C	c.(514-516)gTc>gCc	p.V172A	DHX35_ENST00000373323.4_Missense_Mutation_p.V141A|DHX35_ENST00000373325.2_Missense_Mutation_p.V172A	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	172	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ATTCTTAGTGTCATCATGCTG	0.433																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(514-516)gTc>gCc		DEAH (Asp-Glu-Ala-His) box polypeptide 35							208.0	185.0	193.0					20																	37621001		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37621001T>C	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.515T>C	20.37:g.37621001T>C	ENSP00000252011:p.Val172Ala					DHX35_ENST00000373323.4_Missense_Mutation_p.V141A|DHX35_ENST00000373325.2_Missense_Mutation_p.V172A	p.V172A	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			7	548	+		Myeloproliferative disorder(115;0.00878)	172			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.515T>C	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014980	0.35511	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.72	-1.23	0.09465	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.243967	0.42420	N	0.000701	T	0.16041	0.0386	L	0.37466	1.105	0.53005	D	0.999965	B;B	0.13145	0.007;0.002	B;B	0.28139	0.086;0.006	T	0.09487	-1.0672	10	0.31617	T	0.26	.	11.3915	0.49817	0.0:0.2634:0.0:0.7366	.	141;172	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	A	172;172;141;137	ENSP00000362422:V172A;ENSP00000252011:V172A;ENSP00000362420:V141A;ENSP00000414630:V137A	ENSP00000252011:V172A	V	+	2	0	DHX35	37054415	0.973000	0.33851	0.987000	0.45799	0.504000	0.33889	0.357000	0.20199	-0.240000	0.09696	-0.242000	0.12053	GTC		0.433	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		19	35	0	0	0	1	0	19	35				
HTR4	3360	broad.mit.edu	37	5	147830815	147830815	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147830815C>T	ENST00000521530.1	-	6	1102	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000354217.2_Missense_Mutation_p.G366E|HTR4_ENST00000521735.1_3'UTR	NM_001040169.2	NP_001035259.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	366					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CTGATGATGTCCCCTGTGCAG	0.478																																					GBM(120;370 1604 14007 17804 41573)	ENST00000354217.2																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1096-1098)gGa>gAa		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						369.0	322.0	338.0					5																	147830815		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147830815C>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000521530.1:c.1097G>A	5.37:g.147830815C>T	ENSP00000428320:p.Gly366Glu					HTR4_ENST00000521530.1_Missense_Mutation_p.G366E|HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR	p.G366E			Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1260	-			0					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000521530.1	37	c.1097G>A	CCDS34270.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005885	0.54254	.	.	ENSG00000164270	ENST00000521530;ENST00000354217	T;T	0.70045	-0.45;-0.45	5.25	5.25	0.73442	.	.	.	.	.	T	0.48095	0.1481	.	.	.	0.80722	D	1	B	0.20164	0.042	B	0.30316	0.114	T	0.39542	-0.9609	8	0.02654	T	1	.	14.234	0.65913	0.0:1.0:0.0:0.0	.	366	Q13639-2	.	E	366	ENSP00000428320:G366E;ENSP00000346156:G366E	ENSP00000346156:G366E	G	-	2	0	HTR4	147811008	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	4.720000	0.61944	2.729000	0.93468	0.650000	0.86243	GGA		0.478	HTR4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374174.3	NM_000870		54	89	0	0	0	1	0	54	89				
KIF20B	9585	broad.mit.edu	37	10	91478603	91478603	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91478603T>C	ENST00000371728.3	+	12	1473	c.1408T>C	c.(1408-1410)Ttg>Ctg	p.L470L	KIF20B_ENST00000416354.1_Silent_p.L470L|KIF20B_ENST00000394289.2_Silent_p.L470L|KIF20B_ENST00000260753.4_Silent_p.L470L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	470	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACTCAATGTATTGAAGTTCTC	0.254																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(1408-1410)Ttg>Ctg		kinesin family member 20B							48.0	52.0	50.0					10																	91478603		2202	4298	6500	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91478603T>C	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1408T>C	10.37:g.91478603T>C						KIF20B_ENST00000394289.2_Silent_p.L470L|KIF20B_ENST00000371728.3_Silent_p.L470L|KIF20B_ENST00000260753.4_Silent_p.L470L	p.L470L			Q96Q89	KI20B_HUMAN			12	1480	+			470					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.1408T>C																																																																																					0.254	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		14	20	0	0	0	1	0	14	20				
LAPTM5	7805	broad.mit.edu	37	1	31212746	31212746	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31212746T>C	ENST00000294507.3	-	4	371	c.297A>G	c.(295-297)caA>caG	p.Q99Q	LAPTM5_ENST00000476492.1_5'Flank|MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	99					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCCATGATTTGCAGGGACA	0.612																																						ENST00000294507.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(295-297)caA>caG		lysosomal protein transmembrane 5							152.0	115.0	128.0					1																	31212746		2203	4300	6503	SO:0001819	synonymous_variant	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31212746T>C	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.297A>G	1.37:g.31212746T>C							p.Q99Q	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	4	371	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	99					Q13240|Q14698|Q3KP54	Silent	SNP	ENST00000294507.3	37	c.297A>G	CCDS337.1																																																																																				0.612	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		19	36	0	0	0	1	0	19	36				
TRRAP	8295	broad.mit.edu	37	7	98609882	98609882	+	Silent	SNP	C	C	T	rs200231900		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98609882C>T	ENST00000359863.4	+	72	11693	c.11484C>T	c.(11482-11484)ttC>ttT	p.F3828F	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000355540.3_Silent_p.F3799F|TRRAP_ENST00000446306.3_Silent_p.F3817F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3828	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.F3799F(1)|p.F3828F(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCGCCCAGTTCGAAGGCGGGG	0.642																																						ENST00000359863.4																			2	Substitution - coding silent(2)	p.F3799F(1)|p.F3828F(1)	large_intestine(2)	NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(11482-11484)ttC>ttT		transformation/transcription domain-associated protein							53.0	47.0	49.0					7																	98609882		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98609882C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11484C>T	7.37:g.98609882C>T						TRRAP_ENST00000446306.3_Silent_p.F3817F|TRRAP_ENST00000355540.3_Silent_p.F3799F	p.F3828F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		72	11693	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3828			FATC.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.11484C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	8.985	0.976247	0.18736	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.16	-6.07	0.02158	.	.	.	.	.	T	0.64670	0.2619	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67063	-0.5765	4	.	.	.	.	16.3295	0.83004	0.0:0.2175:0.0:0.7825	.	.	.	.	L	3557	.	.	S	+	2	0	TRRAP	98447818	0.000000	0.05858	0.457000	0.27056	0.951000	0.60555	-3.283000	0.00527	-1.185000	0.02716	-0.982000	0.02568	TCG		0.642	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		14	14	0	0	0	1	0	14	14				
SGK2	10110	broad.mit.edu	37	20	42203567	42203567	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:42203567C>T	ENST00000341458.4	+	9	1015	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	SGK2_ENST00000373077.1_Missense_Mutation_p.L205F|SGK2_ENST00000373092.3_Missense_Mutation_p.L206F|SGK2_ENST00000423407.3_Missense_Mutation_p.L206F|SGK2_ENST00000426287.1_Missense_Mutation_p.L232F|SGK2_ENST00000373100.1_Missense_Mutation_p.L206F	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCTGAAGTGCTTCGGAAAGA	0.502																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(616-618)Ctt>Ttt		serum/glucocorticoid regulated kinase 2							101.0	92.0	95.0					20																	42203567		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42203567C>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.796C>T	20.37:g.42203567C>T	ENSP00000340608:p.Leu266Phe					SGK2_ENST00000373092.3_Missense_Mutation_p.L206F|SGK2_ENST00000373077.1_Missense_Mutation_p.L205F|SGK2_ENST00000423407.3_Missense_Mutation_p.L206F|SGK2_ENST00000426287.1_Missense_Mutation_p.L232F|SGK2_ENST00000341458.4_Missense_Mutation_p.L266F	p.L206F			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		11	1076	+		Myeloproliferative disorder(115;0.00452)	266			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.616C>T	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178756	0.57692	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	4.81	3.86	0.44501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	N	0.13235	0.315	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.97;0.99;0.999	T	0.71234	-0.4653	10	0.87932	D	0	.	8.7384	0.34543	0.0:0.8397:0.0:0.1603	.	232;266;206	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	F	206;206;205;206;266;232	ENSP00000362192:L206F;ENSP00000362184:L206F;ENSP00000362168:L205F;ENSP00000392795:L206F;ENSP00000340608:L266F;ENSP00000412214:L232F	ENSP00000340608:L266F	L	+	1	0	SGK2	41636981	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	3.879000	0.56138	2.598000	0.87819	0.462000	0.41574	CTT		0.502	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			22	23	0	0	0	1	0	22	23				
DDIT3	1649	broad.mit.edu	37	12	57910667	57910667	+	Silent	SNP	G	G	A	rs200022707		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57910667G>A	ENST00000346473.3	-	4	614	c.435C>T	c.(433-435)atC>atT	p.I145I	MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000547303.1_Silent_p.I145I|DDIT3_ENST00000552740.1_Silent_p.I168I|RN7SL312P_ENST00000582079.1_RNA|DDIT3_ENST00000551116.1_Silent_p.I168I	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	145	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCAGGCGCTCGATTTCCTGCT	0.542			T	FUS	liposarcoma								G|||	1	0.000199681	0.0008	0.0	5008	,	,		19612	0.0		0.0	False		,,,				2504	0.0				GBM(112;1383 1547 7626 23045 28770)	ENST00000551116.1				Dom	yes		12	12q13.1-q13.2	1649	T	DNA-damage-inducible transcript 3			M	FUS		liposarcoma	EWSR1/DDIT3(45)|FUS/DDIT3(631)	0				central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						c.(502-504)atC>atT		DNA-damage-inducible transcript 3		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	143.0	147.0	146.0		504,504,504,504,435,435	-3.2	0.9	12		146	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DDIT3	NM_001195053.1,NM_001195054.1,NM_001195055.1,NM_001195056.1,NM_001195057.1,NM_004083.5	,,,,,	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,,,,,	168/193,168/193,168/193,168/193,145/170,145/170	57910667	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1649				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr12:57910667G>A	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.435C>T	12.37:g.57910667G>A						DDIT3_ENST00000552740.1_Silent_p.I168I|DDIT3_ENST00000346473.3_Silent_p.I145I|DDIT3_ENST00000547303.1_Silent_p.I145I	p.I168I	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN			4	771	-			145					F8VS99	Silent	SNP	ENST00000346473.3	37	c.504C>T	CCDS8943.1																																																																																				0.542	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		40	96	0	0	0	1	0	40	96				
TRHDE	29953	broad.mit.edu	37	12	72955964	72955964	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72955964A>C	ENST00000261180.4	+	8	1769	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	558					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						ACCATTCATAAGTATGGTAAT	0.269																																						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.(1672-1674)aAg>aCg		thyrotropin-releasing hormone degrading enzyme							36.0	37.0	37.0					12																	72955964		2197	4267	6464	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72955964A>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.1673A>C	12.37:g.72955964A>C	ENSP00000261180:p.Lys558Thr					TRHDE_ENST00000549138.1_3'UTR	p.K558T	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			8	1769	+			558					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1673A>C	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.16|15.16	2.751192|2.751192	0.49257|0.49257	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.05258|.	3.47|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.045759|.	0.85682|.	D|.	0.000000|.	T|.	0.75889|.	0.3911|.	M|M	0.75150|0.75150	2.29|2.29	0.47819|0.47819	D|D	0.99952|0.99952	P|.	0.40144|.	0.704|.	B|.	0.30716|.	0.119|.	T|.	0.75941|.	-0.3140|.	10|.	0.33141|.	T|.	0.24|.	.|.	16.4696|16.4696	0.84102|0.84102	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	558|.	Q9UKU6|.	TRHDE_HUMAN|.	T|Y	558|145	ENSP00000261180:K558T|.	ENSP00000261180:K558T|.	K|X	+|+	2|3	0|2	TRHDE|TRHDE	71242231|71242231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.855000|3.855000	0.55957|0.55957	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	AAG|TAA		0.269	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		6	11	0	0	0	1	0	6	11				
LRRFIP2	9209	broad.mit.edu	37	3	37107798	37107798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37107798C>A	ENST00000336686.4	-	22	1563	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421307.1_Nonsense_Mutation_p.E495*|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	495					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCAATGTATTCTTTCTGTTTC	0.468																																						ENST00000421307.1																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1483-1485)Gaa>Taa		leucine rich repeat (in FLII) interacting protein 2							179.0	164.0	169.0					3																	37107798		2203	4300	6503	SO:0001587	stop_gained	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37107798C>A	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1483G>T	3.37:g.37107798C>A	ENSP00000338727:p.Glu495*					LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000336686.4_Nonsense_Mutation_p.E495*|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron	p.E495*	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			23	1905	-			495					A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Nonsense_Mutation	SNP	ENST00000336686.4	37	c.1483G>T	CCDS2664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.344318|5.344318	0.95807|0.95807	.|.	.|.	ENSG00000093167|ENSG00000093167	ENST00000421307;ENST00000336686|ENST00000440742	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.100439|.	0.64402|.	D|.	0.000002|.	.|T	.|0.81302	.|0.4794	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78306	.|-0.2255	.|3	0.38643|.	T|.	0.18|.	-8.1776|-8.1776	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	495|76	.|.	ENSP00000338727:E495X|.	E|R	-|-	1|2	0|0	LRRFIP2|LRRFIP2	37082802|37082802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.336000|7.336000	0.79245|0.79245	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.468	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		28	43	1	0	3.90053e-15	1	5.12206e-15	28	43				
STRN	6801	broad.mit.edu	37	2	37121137	37121137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37121137G>A	ENST00000263918.4	-	7	843	c.835C>T	c.(835-837)Cga>Tga	p.R279*	STRN_ENST00000379213.2_Nonsense_Mutation_p.R267*	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	279					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTTGTATCTCGATCTTCACCG	0.383																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(835-837)Cga>Tga		striatin, calmodulin binding protein							155.0	135.0	142.0					2																	37121137		2203	4300	6503	SO:0001587	stop_gained	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37121137G>A	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.835C>T	2.37:g.37121137G>A	ENSP00000263918:p.Arg279*					STRN_ENST00000379213.2_Nonsense_Mutation_p.R267*	p.R279*	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			7	843	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	279					Q3KP65|Q53TQ8|Q9NP38	Nonsense_Mutation	SNP	ENST00000263918.4	37	c.835C>T	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	G	36	5.759081	0.96898	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	.	.	.	5.72	1.64	0.23874	.	0.138166	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-7.6535	5.2391	0.15462	0.1678:0.0:0.353:0.4792	.	.	.	.	X	279;254;267	.	ENSP00000263918:R279X	R	-	1	2	STRN	36974641	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	2.842000	0.48230	0.320000	0.23234	0.655000	0.94253	CGA		0.383	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			8	61	0	0	0	1	0	8	61				
RGS3	5998	broad.mit.edu	37	9	116346160	116346160	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116346160C>T	ENST00000374140.2	+	21	2677	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	RGS3_ENST00000462143.1_Missense_Mutation_p.S144F|RGS3_ENST00000343817.5_Missense_Mutation_p.S542F|RGS3_ENST00000374134.3_Missense_Mutation_p.S144F|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000350696.5_Missense_Mutation_p.S823F|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	823					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCCAGGTCTCCCTGCCAGCC	0.637																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2467-2469)tCc>tTc		regulator of G-protein signaling 3							104.0	113.0	110.0					9																	116346160		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116346160C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2468C>T	9.37:g.116346160C>T	ENSP00000363255:p.Ser823Phe					RGS3_ENST00000374134.3_Missense_Mutation_p.S144F|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.S144F|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000350696.5_Missense_Mutation_p.S823F|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.S542F	p.S823F	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			21	2677	+			823					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.2468C>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087946	0.36855	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000462143;ENST00000374134	T;T;T;T;T	0.58652	0.83;0.83;0.34;0.32;0.32	5.14	-0.244	0.13031	.	1.408720	0.04319	N	0.350338	T	0.40546	0.1121	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.14438	0.006;0.001;0.01;0.001;0.0;0.001	B;B;B;B;B;B	0.10450	0.005;0.002;0.005;0.002;0.0;0.001	T	0.39981	-0.9587	10	0.72032	D	0.01	.	6.6604	0.23011	0.0:0.5348:0.2422:0.223	.	162;719;144;542;713;823	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	F	823;823;542;144;144	ENSP00000363255:S823F;ENSP00000259406:S823F;ENSP00000340284:S542F;ENSP00000420356:S144F;ENSP00000363249:S144F	ENSP00000340284:S542F	S	+	2	0	RGS3	115385981	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.154000	0.16343	0.294000	0.22547	0.563000	0.77884	TCC		0.637	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		64	129	0	0	0	1	0	64	129				
STAB1	23166	broad.mit.edu	37	3	52553522	52553522	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52553522G>T	ENST00000321725.6	+	50	5253	c.5177G>T	c.(5176-5178)aGa>aTa	p.R1726I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1726	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTTCCTCAGAGAAATGTCACC	0.602																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.e50-1		stabilin 1							77.0	79.0	78.0					3																	52553522		2202	4300	6502	SO:0001630	splice_region_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52553522G>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5176-1G>T	3.37:g.52553522G>T							p.R1726_splice	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	50	5253	+			1726			FAS1 6.		A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	ENST00000321725.6	37	c.5175_splice	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436746	0.43224	.	.	ENSG00000010327	ENST00000321725	D	0.91351	-2.83	5.05	1.75	0.24633	FAS1 domain (3);	0.324438	0.32386	N	0.006169	T	0.81336	0.4801	L	0.38175	1.15	0.46260	D	0.99895	B	0.29862	0.259	B	0.21546	0.035	T	0.74253	-0.3725	10	0.52906	T	0.07	.	3.8587	0.08986	0.3522:0.199:0.4489:0.0	.	1726	Q9NY15	STAB1_HUMAN	I	1726	ENSP00000312946:R1726I	ENSP00000312946:R1726I	R	+	2	0	STAB1	52528562	1.000000	0.71417	0.998000	0.56505	0.514000	0.34195	0.656000	0.24948	0.643000	0.30638	0.655000	0.94253	AGA		0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Missense_Mutation	8	88	1	0	0.000274275	1	0.000292037	8	88				
GPR128	84873	broad.mit.edu	37	3	100352109	100352109	+	Splice_Site	SNP	C	C	T	rs200895145		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:100352109C>T	ENST00000273352.3	+	4	603	c.335C>T	c.(334-336)gCg>gTg	p.A112V	GPR128_ENST00000475887.1_5'Flank	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	112					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTATTAAAGCGGGCAATCCA	0.269																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.e4-1		G protein-coupled receptor 128		C	VAL/ALA	0,4400		0,0,2200	28.0	30.0	29.0		335	2.9	0.9	3		29	8,8586		0,8,4289	yes	missense-near-splice	GPR128	NM_032787.2	64	0,8,6489	TT,TC,CC		0.0931,0.0,0.0616	probably-damaging	112/798	100352109	8,12986	2200	4297	6497	SO:0001630	splice_region_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100352109C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.335-1C>T	3.37:g.100352109C>T							p.A112_splice	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			4	603	+			112					Q14D94|Q86SQ2	Splice_Site	SNP	ENST00000273352.3	37	c.334_splice	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976982	0.34848	0.0	9.31E-4	ENSG00000144820	ENST00000273352	T	0.43688	0.94	5.67	2.93	0.34026	.	0.116159	0.38164	N	0.001789	T	0.33089	0.0851	L	0.57536	1.79	0.80722	D	1	B	0.29232	0.238	B	0.23574	0.047	T	0.08229	-1.0732	9	.	.	.	.	7.0291	0.24956	0.0:0.7279:0.0:0.2721	.	112	Q96K78	GP128_HUMAN	V	112	ENSP00000273352:A112V	.	A	+	2	0	GPR128	101834799	0.924000	0.31332	0.919000	0.36401	0.729000	0.41735	-0.037000	0.12164	0.753000	0.32945	-0.142000	0.14014	GCG		0.269	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		Missense_Mutation	10	15	0	0	0	1	0	10	15				
MRE11A	4361	broad.mit.edu	37	11	94178996	94178996	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94178996C>A	ENST00000323929.3	-	16	2069	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I	MRE11A_ENST00000407439.3_Missense_Mutation_p.R619I|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000393241.4_Missense_Mutation_p.R615I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	616					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AGACATATTTCTAGATGCTGA	0.383								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(1846-1848)aGa>aTa	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							97.0	102.0	100.0					11																	94178996		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94178996C>A	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1847G>T	11.37:g.94178996C>A	ENSP00000325863:p.Arg616Ile					MRE11A_ENST00000393241.4_Missense_Mutation_p.R615I|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000407439.3_Missense_Mutation_p.R619I	p.R616I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			16	2069	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	616					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1847G>T	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940030	0.52972	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000393241	T;T;T	0.75154	-0.91;-0.91;-0.91	5.53	3.27	0.37495	.	0.206543	0.50627	D	0.000101	T	0.57359	0.2048	L	0.36672	1.1	0.80722	D	1	B;B	0.33448	0.162;0.412	B;B	0.27887	0.084;0.062	T	0.57568	-0.7789	10	0.46703	T	0.11	-20.1635	5.2536	0.15534	0.0:0.692:0.0:0.308	.	619;616	B3KTC7;P49959	.;MRE11_HUMAN	I	616;619;615	ENSP00000325863:R616I;ENSP00000385614:R619I;ENSP00000376933:R615I	ENSP00000325863:R616I	R	-	2	0	MRE11A	93818644	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.680000	0.37607	1.477000	0.48234	0.650000	0.86243	AGA		0.383	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		30	52	1	0	1.74807e-11	1	2.17561e-11	30	52				
BHMT	635	broad.mit.edu	37	5	78417160	78417160	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78417160C>T	ENST00000274353.5	+	5	704	c.597C>T	c.(595-597)ggC>ggT	p.G199G	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	199	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.		G -> S (in dbSNP:rs59866108).		amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGCCCCCCGGCGAGTGTGCAG	0.488																																						ENST00000274353.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(595-597)ggC>ggT		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						94.0	84.0	87.0					5																	78417160		2203	4300	6503	SO:0001819	synonymous_variant	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78417160C>T	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.597C>T	5.37:g.78417160C>T						DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	p.G199G	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	5	704	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	199		G -> S (in dbSNP:rs59866108).	Hcy-binding.		Q9UNI9	Silent	SNP	ENST00000274353.5	37	c.597C>T	CCDS4046.1																																																																																				0.488	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		14	76	0	0	0	1	0	14	76				
CCDC102B	79839	broad.mit.edu	37	18	66505962	66505962	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66505962A>C	ENST00000360242.5	+	3	743	c.626A>C	c.(625-627)gAt>gCt	p.D209A	CCDC102B_ENST00000358653.5_Missense_Mutation_p.D209A|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D209A|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D209A	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	209										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTGGTTATTGATTCTCTAAAA	0.343																																						ENST00000360242.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(625-627)gAt>gCt		coiled-coil domain containing 102B							85.0	87.0	86.0					18																	66505962		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66505962A>C	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.626A>C	18.37:g.66505962A>C	ENSP00000353377:p.Asp209Ala					CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D209A|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D209A|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D209A	p.D209A	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN			3	743	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	209					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.626A>C	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	A	3.286	-0.146009	0.06627	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.69040	-0.37;-0.37;-0.37	5.61	4.39	0.52855	.	0.192345	0.36703	N	0.002459	T	0.64605	0.2613	L	0.31926	0.97	0.09310	N	1	D;D	0.69078	0.997;0.972	P;P	0.57720	0.826;0.67	T	0.54351	-0.8307	10	0.18276	T	0.48	-29.3246	10.4185	0.44335	0.8366:0.1634:0.0:0.0	.	209;209	Q68D86-3;Q68D86	.;C102B_HUMAN	A	209	ENSP00000316237:D209A;ENSP00000351479:D209A;ENSP00000353377:D209A	ENSP00000316237:D209A	D	+	2	0	CCDC102B	64656942	0.076000	0.21285	0.917000	0.36280	0.194000	0.23727	2.905000	0.48727	2.143000	0.66587	0.482000	0.46254	GAT		0.343	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		9	26	0	0	0	1	0	9	26				
SART3	9733	broad.mit.edu	37	12	108931363	108931363	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108931363C>T	ENST00000228284.3	-	9	1444	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	SART3_ENST00000431469.2_Intron	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	404					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AAAGCTTTCTCGAAGGTTACT	0.403									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(1210-1212)Gag>Aag		squamous cell carcinoma antigen recognized by T cells 3							71.0	66.0	68.0					12																	108931363		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108931363C>T	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1210G>A	12.37:g.108931363C>T	ENSP00000228284:p.Glu404Lys					SART3_ENST00000431469.2_Intron	p.E404K	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			9	1444	-			404					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.1210G>A	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449772	0.96205	.	.	ENSG00000075856	ENST00000228284;ENST00000412617;ENST00000546815	T;T	0.34472	1.36;1.36	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.76575	0.915;0.988;0.879	T	0.64118	-0.6482	10	0.49607	T	0.09	-36.4201	20.3343	0.98733	0.0:1.0:0.0:0.0	.	352;422;404	E7EMI4;F8VV04;Q15020	.;.;SART3_HUMAN	K	404;352;422	ENSP00000228284:E404K;ENSP00000449386:E422K	ENSP00000228284:E404K	E	-	1	0	SART3	107455493	1.000000	0.71417	0.976000	0.42696	0.895000	0.52256	7.378000	0.79679	2.822000	0.97130	0.650000	0.86243	GAG		0.403	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			16	22	0	0	0	1	0	16	22				
DNAH8	1769	broad.mit.edu	37	6	38810148	38810148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38810148G>T	ENST00000359357.3	+	32	4074	c.3820G>T	c.(3820-3822)Gaa>Taa	p.E1274*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E1274*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E1491*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1274					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCCAGAAAAGAACTCAACTT	0.323																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3820-3822)Gaa>Taa		dynein, axonemal, heavy chain 8							109.0	110.0	110.0					6																	38810148		2203	4299	6502	SO:0001587	stop_gained	1769							g.chr6:38810148G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3820G>T	6.37:g.38810148G>T	ENSP00000352312:p.Glu1274*					DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E1491*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E1274*	p.E1274*							32	4074	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.3820G>T		.	.	.	.	.	.	.	.	.	.	G	45	11.760084	0.99599	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.66	5.66	0.87406	.	0.053535	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.2631	0.73640	0.0:0.1397:0.8603:0.0	.	.	.	.	X	1479;1479;1274;1274	.	ENSP00000333363:E1479X	E	+	1	0	DNAH8	38918126	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.096000	0.50243	2.657000	0.90304	0.655000	0.94253	GAA		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		34	16	1	0	3.03874e-20	1	4.1594e-20	34	16				
ALDH8A1	64577	broad.mit.edu	37	6	135271107	135271107	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:135271107C>T	ENST00000265605.2	-	1	153	c.85G>A	c.(85-87)Gac>Aac	p.D29N	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.D29N|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.D29N	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	29					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTTGATGGGTCGTAAGAATCT	0.373																																						ENST00000265605.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(85-87)Gac>Aac		aldehyde dehydrogenase 8 family, member A1							128.0	123.0	124.0					6																	135271107		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135271107C>T	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.85G>A	6.37:g.135271107C>T	ENSP00000265605:p.Asp29Asn					ALDH8A1_ENST00000367845.2_Missense_Mutation_p.D29N|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.D29N	p.D29N	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	1	153	-	Colorectal(23;0.221)		29					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.85G>A	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	C	8.591	0.884645	0.17467	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.26067	1.76;1.76;1.76	6.14	6.14	0.99180	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.045918	0.85682	D	0.000000	T	0.02929	0.0087	N	0.02181	-0.65	0.51767	D	0.999934	B;B;B	0.16166	0.016;0.013;0.016	B;B;B	0.16289	0.015;0.009;0.015	T	0.39354	-0.9618	10	0.02654	T	1	.	11.1044	0.48194	0.0:0.8628:0.0:0.1372	.	29;29;29	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	N	29	ENSP00000265605:D29N;ENSP00000356819:D29N;ENSP00000356821:D29N	ENSP00000265605:D29N	D	-	1	0	ALDH8A1	135312800	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	4.658000	0.61497	2.937000	0.99478	0.650000	0.86243	GAC		0.373	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			18	40	0	0	0	1	0	18	40				
NOS3	4846	broad.mit.edu	37	7	150698909	150698909	+	Splice_Site	SNP	C	C	T	rs370911240		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150698909C>T	ENST00000484524.1	+	12	1503	c.1503C>T	c.(1501-1503)aaC>aaT	p.N501N	NOS3_ENST00000297494.3_Splice_Site_p.N501N|NOS3_ENST00000461406.1_Splice_Site_p.N295N|NOS3_ENST00000467517.1_Splice_Site_p.N501N	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTCCCGCAGCGCCGTGAAGA	0.642																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e13-1		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	C	,,,	0,4406		0,0,2203	52.0	50.0	50.0		1503,1503,1503,1503	-5.4	0.2	7		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	NOS3	NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	501/1204,501/597,501/615,501/630	150698909	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698909C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1503-1C>T	7.37:g.150698909C>T						NOS3_ENST00000484524.1_Splice_Site_p.N501_splice|NOS3_ENST00000461406.1_Splice_Site_p.N295_splice|NOS3_ENST00000467517.1_Splice_Site_p.N501_splice	p.N501_splice	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1860	+	all_neural(206;0.219)		501			Calmodulin-binding (Potential).		Q495E5	Splice_Site	SNP	ENST00000484524.1	37	c.1502_splice	CCDS55182.1																																																																																				0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	Silent	19	22	0	0	0	1	0	19	22				
ZNF426	79088	broad.mit.edu	37	19	9639180	9639180	+	Missense_Mutation	SNP	G	G	A	rs200716581		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9639180G>A	ENST00000535489.1	-	6	1877	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	ZNF426_ENST00000593003.1_Missense_Mutation_p.T476M|ZNF426_ENST00000253115.2_Missense_Mutation_p.T514M			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACTGGAACACGTGAAGGCTTT	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18965	0.0		0.0	False		,,,				2504	0.0					ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1426-1428)aCg>aTg		zinc finger protein 426		G	MET/THR	0,4406		0,0,2203	106.0	100.0	102.0		1541	-3.0	0.0	19		102	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZNF426	NM_024106.1	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	514/555	9639180	3,13003	2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639180G>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1541C>T	19.37:g.9639180G>A	ENSP00000439017:p.Thr514Met					ZNF426_ENST00000535489.1_Missense_Mutation_p.T514M|ZNF426_ENST00000253115.2_Missense_Mutation_p.T514M	p.T476M			Q9BUY5	ZN426_HUMAN			6	1904	-			514					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.1427C>T	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	G	3.806	-0.040722	0.07452	0.0	3.49E-4	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.07444	3.19;3.19	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	L	0.46885	1.475	0.22521	N	0.999029	B;B	0.32128	0.357;0.133	B;B	0.23018	0.043;0.026	T	0.08086	-1.0739	9	0.59425	D	0.04	.	6.1509	0.20310	0.2418:0.5253:0.2329:0.0	.	501;514	Q59EH4;Q9BUY5	.;ZN426_HUMAN	M	501;514;514	ENSP00000253115:T514M;ENSP00000439017:T514M	ENSP00000253115:T514M	T	-	2	0	ZNF426	9500180	.	.	0.002000	0.10522	0.058000	0.15608	.	.	-2.108000	0.00839	-1.599000	0.00816	ACG		0.428	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		20	34	0	0	0	1	0	20	34				
DENND4A	10260	broad.mit.edu	37	15	65959785	65959785	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65959785A>G	ENST00000431932.2	-	28	5318		c.e28+1		DENND4A_ENST00000443035.3_Splice_Site	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTAGTCTCATACCTTTGAATA	0.333																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.e29+1		DENN/MADD domain containing 4A							94.0	90.0	91.0					15																	65959785		1831	4077	5908	SO:0001630	splice_region_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65959785A>G	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5109+1T>C	15.37:g.65959785A>G						DENND4A_ENST00000431932.2_Splice_Site		NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			29	5454	-								E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Splice_Site	SNP	ENST00000431932.2	37		CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990941	0.74703	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8687	0.79091	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4A	63746839	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.877000	0.87225	2.205000	0.71048	0.454000	0.30748	.		0.333	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	Intron	16	27	0	0	0	1	0	16	27				
ZNF410	57862	broad.mit.edu	37	14	74363124	74363124	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74363124A>G	ENST00000555044.1	+	4	469	c.275A>G	c.(274-276)cAg>cGg	p.Q92R	RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.Q109R|ZNF410_ENST00000334521.4_Missense_Mutation_p.Q39R|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000556797.1_Missense_Mutation_p.Q39R|ZNF410_ENST00000324593.6_Missense_Mutation_p.Q92R|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000540593.1_Intron	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		ACGAGAGCTCAGACTGTACAG	0.463																																						ENST00000555044.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(274-276)cAg>cGg		zinc finger protein 410							134.0	127.0	129.0					14																	74363124		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74363124A>G	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.275A>G	14.37:g.74363124A>G	ENSP00000451763:p.Gln92Arg					ZNF410_ENST00000540593.1_Intron|ZNF410_ENST00000324593.6_Missense_Mutation_p.Q92R|ZNF410_ENST00000442160.3_Missense_Mutation_p.Q109R|ZNF410_ENST00000556797.1_Missense_Mutation_p.Q39R|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.Q39R	p.Q92R	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	4	469	+			92					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.275A>G	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036866	0.35893	.	.	ENSG00000119725	ENST00000555730;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000557363;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556797	T;T;T;T	0.08370	3.17;3.13;3.17;3.1	5.3	5.3	0.74995	.	0.173667	0.27811	N	0.017759	T	0.05318	0.0141	N	0.14661	0.345	0.37629	D	0.921594	P;B;B	0.35328	0.495;0.135;0.083	B;B;B	0.30401	0.115;0.04;0.018	T	0.51779	-0.8662	9	.	.	.	.	13.96	0.64172	1.0:0.0:0.0:0.0	.	109;92;92	B4DDV5;Q86VK4-3;Q86VK4	.;.;ZN410_HUMAN	R	39;92;99;92;39;109;92;39;39	ENSP00000323293:Q92R;ENSP00000407130:Q109R;ENSP00000451763:Q92R;ENSP00000334170:Q39R	.	Q	+	2	0	ZNF410	73432877	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	4.062000	0.57492	2.218000	0.71995	0.482000	0.46254	CAG		0.463	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		33	58	0	0	0	1	0	33	58				
TDG	6996	broad.mit.edu	37	12	104373823	104373823	+	Silent	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104373823T>A	ENST00000392872.3	+	3	615	c.381T>A	c.(379-381)atT>atA	p.I127I	TDG_ENST00000542036.1_De_novo_Start_OutOfFrame|TDG_ENST00000266775.9_Silent_p.I123I|TDG_ENST00000544861.1_De_novo_Start_InFrame	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	127					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TCCCCGATATTTTGACCTTCA	0.358								Base excision repair (BER), DNA glycosylases																														ENST00000542036.1																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24							Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							50.0	49.0	49.0					12																	104373823		2203	4300	6503	SO:0001819	synonymous_variant	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104373823T>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.381T>A	12.37:g.104373823T>A						TDG_ENST00000266775.9_Silent_p.I123I|TDG_ENST00000544861.1_De_novo_Start_InFrame|TDG_ENST00000392872.3_Silent_p.I127I				Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	0	91	+								Q8IUZ6|Q8IZM3	Translation_Start_Site	SNP	ENST00000392872.3	37		CCDS9095.1																																																																																				0.358	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			19	41	0	0	0	1	0	19	41				
MLH3	27030	broad.mit.edu	37	14	75506691	75506691	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75506691C>T	ENST00000556740.1	-	4	3528	c.3493G>A	c.(3493-3495)Gct>Act	p.A1165T	MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.A1165T|MLH3_ENST00000238662.7_Missense_Mutation_p.A1165T|MLH3_ENST00000380968.2_Missense_Mutation_p.A111T|MLH3_ENST00000544985.1_Intron|MLH3_ENST00000556257.1_Intron			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1165					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AAGCTCTCAGCCTGGCCACTG	0.338								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(3493-3495)Gct>Act	Mismatch excision repair (MMR)	mutL homolog 3							72.0	73.0	72.0					14																	75506691		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75506691C>T	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3493G>A	14.37:g.75506691C>T	ENSP00000452316:p.Ala1165Thr					MLH3_ENST00000238662.7_Missense_Mutation_p.A1165T|MLH3_ENST00000544985.1_Intron|MLH3_ENST00000380968.2_Missense_Mutation_p.A111T|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.A1165T|MLH3_ENST00000556257.1_Intron	p.A1165T	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	5	3708	-			1165					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.3493G>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.735409	0.89482	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556740	D;T;D;D	0.83250	-1.5;0.62;-1.7;-1.5	5.81	5.81	0.92471	.	0.103551	0.64402	D	0.000003	D	0.85504	0.5712	L	0.39020	1.185	0.80722	D	1	D;D	0.61697	0.99;0.987	D;P	0.68192	0.956;0.831	T	0.83113	-0.0122	10	0.31617	T	0.26	-14.9512	13.298	0.60309	0.0:0.928:0.0:0.072	.	1165;1165	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	T	1165;111;1165;1165	ENSP00000348020:A1165T;ENSP00000370355:A111T;ENSP00000238662:A1165T;ENSP00000452316:A1165T	ENSP00000238662:A1165T	A	-	1	0	MLH3	74576444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.701000	0.61810	2.738000	0.93877	0.655000	0.94253	GCT		0.338	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		20	24	0	0	0	1	0	20	24				
GRID1	2894	broad.mit.edu	37	10	87362273	87362273	+	Silent	SNP	G	G	T	rs528465783		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87362273G>T	ENST00000327946.7	-	16	2872	c.2787C>A	c.(2785-2787)acC>acA	p.T929T	RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Silent_p.T500T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	929					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGGCAGAAAGGTGCTGACCG	0.662										Multiple Myeloma(13;0.14)			G|||	1	0.000199681	0.0	0.0	5008	,	,		12210	0.0		0.0	False		,,,				2504	0.001					ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2785-2787)acC>acA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						59.0	55.0	56.0					10																	87362273		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87362273G>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2787C>A	10.37:g.87362273G>T		Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Silent_p.T500T|GRID1_ENST00000552278.2_5'UTR	p.T929T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			16	2872	-			929					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.2787C>A	CCDS31236.1																																																																																				0.662	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		7	56	1	0	0.00198382	1	0.00207034	7	56				
PCDHA9	9752	broad.mit.edu	37	5	140229595	140229595	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140229595G>A	ENST00000532602.1	+	1	2548	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S505S|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	505	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCTGTCGAGCTACGTGT	0.677																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1513-1515)tcG>tcA									60.0	66.0	64.0					5																	140229595		2196	4270	6466	SO:0001819	synonymous_variant	0							g.chr5:140229595G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1515G>A	5.37:g.140229595G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.S505S|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.S505S	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2239	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1515G>A	CCDS54920.1																																																																																				0.677	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		55	122	0	0	0	1	0	55	122				
PNLIP	5406	broad.mit.edu	37	10	118307936	118307936	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118307936T>G	ENST00000369221.2	+	4	294	c.266T>G	c.(265-267)tTt>tGt	p.F89C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	89					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AAAACTCGCTTTATTATTCAT	0.403																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(265-267)tTt>tGt		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						115.0	117.0	116.0					10																	118307936		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118307936T>G	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.266T>G	10.37:g.118307936T>G	ENSP00000358223:p.Phe89Cys					PNLIP_ENST00000470562.1_3'UTR	p.F89C	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	4	294	+			89					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.266T>G	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066660	0.76301	.	.	ENSG00000175535	ENST00000369221	D	0.91792	-2.91	5.39	5.39	0.77823	Lipase, N-terminal (1);	0.074208	0.56097	D	0.000026	D	0.97698	0.9245	H	0.98295	4.195	0.47905	D	0.999541	D	0.89917	1.0	D	0.91635	0.999	D	0.99038	1.0823	10	0.87932	D	0	.	14.5283	0.67905	0.0:0.0:0.0:1.0	.	89	P16233	LIPP_HUMAN	C	89	ENSP00000358223:F89C	ENSP00000358223:F89C	F	+	2	0	PNLIP	118297926	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	5.968000	0.70413	2.270000	0.75569	0.477000	0.44152	TTT		0.403	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		12	66	0	0	0	1	0	12	66				
WNK1	65125	broad.mit.edu	37	12	922930	922930	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:922930G>A	ENST00000315939.6	+	2	1525	c.882G>A	c.(880-882)aaG>aaA	p.K294K	WNK1_ENST00000530271.2_Silent_p.K294K|WNK1_ENST00000447667.2_Silent_p.K294K|WNK1_ENST00000535572.1_Silent_p.K294K|WNK1_ENST00000537687.1_Silent_p.K294K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TAAAAGGAAAGAAGTGCATTG	0.358																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(880-882)aaG>aaA		WNK lysine deficient protein kinase 1							111.0	104.0	107.0					12																	922930		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:922930G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.882G>A	12.37:g.922930G>A						WNK1_ENST00000530271.2_Silent_p.K294K|WNK1_ENST00000447667.2_Silent_p.K294K|WNK1_ENST00000315939.6_Silent_p.K294K|WNK1_ENST00000535572.1_Silent_p.K294K	p.K294K	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		2	1525	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		294			Protein kinase.		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.882G>A	CCDS8506.1																																																																																				0.358	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		4	34	0	0	0	1	0	4	34				
ROBO4	54538	broad.mit.edu	37	11	124763776	124763776	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124763776G>T	ENST00000306534.3	-	9	1969	c.1484C>A	c.(1483-1485)gCt>gAt	p.A495D	ROBO4_ENST00000533054.1_Missense_Mutation_p.A350D|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	495					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A495D(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTGCACCCTAGCTCGGCGCCG	0.632																																						ENST00000306534.3																			1	Substitution - Missense(1)	p.A495D(1)	ovary(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(1483-1485)gCt>gAt		roundabout, axon guidance receptor, homolog 4 (Drosophila)							19.0	23.0	22.0					11																	124763776		2200	4297	6497	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124763776G>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1484C>A	11.37:g.124763776G>T	ENSP00000304945:p.Ala495Asp					ROBO4_ENST00000533054.1_Missense_Mutation_p.A350D	p.A495D	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	9	1969	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	495					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1484C>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391812	0.62066	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64260	-0.09;0.27	5.31	4.34	0.51931	.	0.000000	0.37219	N	0.002184	T	0.65606	0.2707	M	0.63428	1.95	0.09310	N	1	P;D;P	0.53151	0.571;0.958;0.915	B;P;B	0.51229	0.395;0.663;0.374	T	0.59867	-0.7373	10	0.42905	T	0.14	.	11.1115	0.48235	0.0:0.1866:0.8134:0.0	.	495;385;495	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	D	495;385;350	ENSP00000304945:A495D;ENSP00000437129:A350D	ENSP00000304945:A495D	A	-	2	0	ROBO4	124268986	0.030000	0.19436	0.257000	0.24404	0.949000	0.60115	2.179000	0.42528	2.481000	0.83766	0.655000	0.94253	GCT		0.632	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		10	15	1	0	3.86212e-05	1	4.21111e-05	10	15				
SLC11A2	4891	broad.mit.edu	37	12	51399200	51399200	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51399200C>T	ENST00000262051.7	-	4	290	c.203G>A	c.(202-204)cGt>cAt	p.R68H	SLC11A2_ENST00000547688.1_Missense_Mutation_p.R97H|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R64H|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R68H|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R68H|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R68H|SLC11A2_ENST00000394904.3_Missense_Mutation_p.R97H	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	68					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.R68H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCAGAGTTTACGAAAGCTAAA	0.413																																						ENST00000394904.3																			1	Substitution - Missense(1)	p.R68H(1)	lung(1)	breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.(289-291)cGt>cAt		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							84.0	78.0	80.0					12																	51399200		2203	4300	6503	SO:0001583	missense	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51399200C>T	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.203G>A	12.37:g.51399200C>T	ENSP00000262051:p.Arg68His					SLC11A2_ENST00000262051.7_Missense_Mutation_p.R68H|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R68H|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R68H|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R68H|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R64H|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000547688.1_Missense_Mutation_p.R97H	p.R97H	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN			4	339	-			68					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	c.290G>A	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823073	0.96989	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000550714;ENST00000548193	T;T;T;T;T;T;T;T	0.54279	1.6;1.6;1.6;1.58;1.58;1.6;1.59;0.58	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.75744	0.3891	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D	0.76494	0.992;0.995;0.998;0.999;0.997	P;D;D;D;P	0.69142	0.756;0.931;0.962;0.957;0.815	T	0.77960	-0.2391	10	0.87932	D	0	-13.5634	19.2102	0.93751	0.0:1.0:0.0:0.0	.	31;64;97;68;68	B7Z9M2;F5H741;P49281-3;P49281-2;P49281	.;.;.;.;NRAM2_HUMAN	H	68;68;68;97;97;68;64;21;68	ENSP00000262051:R68H;ENSP00000446769:R68H;ENSP00000262052:R68H;ENSP00000378364:R97H;ENSP00000449200:R97H;ENSP00000444542:R68H;ENSP00000442810:R64H;ENSP00000449209:R68H	ENSP00000262051:R68H	R	-	2	0	SLC11A2	49685467	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.345000	0.79337	2.836000	0.97738	0.655000	0.94253	CGT		0.413	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			9	30	0	0	0	1	0	9	30				
MYH13	8735	broad.mit.edu	37	17	10206514	10206514	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10206514G>A	ENST00000418404.3	-	38	5829	c.5666C>T	c.(5665-5667)gCg>gTg	p.A1889V	MYH13_ENST00000252172.4_Splice_Site_p.A1889V|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1889					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGTGCTTACCGCCTCCTCAGC	0.597																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.e38+1		myosin, heavy chain 13, skeletal muscle							112.0	118.0	116.0					17																	10206514		2130	4245	6375	SO:0001630	splice_region_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10206514G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5667+1C>T	17.37:g.10206514G>A						MYH13_ENST00000252172.4_Splice_Site_p.A1889_splice|MYH13_ENST00000570743.1_Splice_Site_p.A1889_splice	p.A1889_splice			Q9UKX3	MYH13_HUMAN			38	5829	-			1889					O95252|Q9P0U8	Splice_Site	SNP	ENST00000418404.3	37	c.5667_splice	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911759	0.52439	.	.	ENSG00000006788	ENST00000252172	T	0.80393	-1.37	3.72	3.72	0.42706	Myosin tail (1);	.	.	.	.	T	0.81645	0.4866	M	0.83012	2.62	0.38568	D	0.949882	B	0.29571	0.249	B	0.34931	0.192	D	0.83759	0.0213	9	0.56958	D	0.05	.	9.832	0.40948	0.0962:0.0:0.9038:0.0	.	1889	Q9UKX3	MYH13_HUMAN	V	1889	ENSP00000252172:A1889V	ENSP00000252172:A1889V	A	-	2	0	MYH13	10147239	1.000000	0.71417	0.975000	0.42487	0.693000	0.40251	7.751000	0.85126	2.058000	0.61347	0.491000	0.48974	GCG		0.597	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	Missense_Mutation	62	119	0	0	0	1	0	62	119				
FAM49A	81553	broad.mit.edu	37	2	16740730	16740730	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:16740730C>T	ENST00000381323.3	-	10	1055	c.835G>A	c.(835-837)Gat>Aat	p.D279N	FAM49A_ENST00000406434.1_Missense_Mutation_p.D279N|FAM49A_ENST00000355549.2_Missense_Mutation_p.D279N	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	279						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATTCTTACATCGATCTTGGAT	0.483																																						ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(835-837)Gat>Aat		family with sequence similarity 49, member A							142.0	134.0	137.0					2																	16740730		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16740730C>T	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.835G>A	2.37:g.16740730C>T	ENSP00000370724:p.Asp279Asn					FAM49A_ENST00000406434.1_Missense_Mutation_p.D279N|FAM49A_ENST00000355549.2_Missense_Mutation_p.D279N	p.D279N	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		10	1055	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		279					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.835G>A	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785631	0.70337	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.52057	0.68;0.68;0.68	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.72894	2.215	0.80722	D	1	B	0.22480	0.07	B	0.30782	0.12	T	0.50524	-0.8818	10	0.34782	T	0.22	-16.0852	18.1646	0.89721	0.0:1.0:0.0:0.0	.	279	Q9H0Q0	FA49A_HUMAN	N	279	ENSP00000370724:D279N;ENSP00000384771:D279N;ENSP00000347744:D279N	ENSP00000347744:D279N	D	-	1	0	FAM49A	16604211	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	7.773000	0.85462	2.611000	0.88343	0.655000	0.94253	GAT		0.483	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		39	45	0	0	0	1	0	39	45				
BIRC6	57448	broad.mit.edu	37	2	32640478	32640478	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32640478A>G	ENST00000421745.2	+	10	2253	c.2119A>G	c.(2119-2121)Aac>Gac	p.N707D		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	707					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGAGAAGTGGAACTCTGTGTT	0.473																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(2119-2121)Aac>Gac		baculoviral IAP repeat containing 6							77.0	73.0	74.0					2																	32640478		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640478A>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2119A>G	2.37:g.32640478A>G	ENSP00000393596:p.Asn707Asp						p.N707D	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			10	2253	+	Acute lymphoblastic leukemia(172;0.155)		707					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.2119A>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380651	0.24944	.	.	ENSG00000115760	ENST00000421745	T	0.74526	-0.85	5.65	4.5	0.54988	.	0.333181	0.34802	N	0.003672	T	0.53384	0.1793	N	0.08118	0	0.32387	N	0.553777	B	0.16166	0.016	B	0.16722	0.016	T	0.55373	-0.8151	10	0.23891	T	0.37	.	11.5587	0.50764	0.9303:0.0:0.0697:0.0	.	707	Q9NR09	BIRC6_HUMAN	D	707	ENSP00000393596:N707D	ENSP00000393596:N707D	N	+	1	0	BIRC6	32493982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.072000	0.71238	1.086000	0.41228	0.528000	0.53228	AAC		0.473	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		16	21	0	0	0	1	0	16	21				
MAK	4117	broad.mit.edu	37	6	10796399	10796399	+	Silent	SNP	C	C	T	rs145014649	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10796399C>T	ENST00000313243.2	-	9	1357	c.975G>A	c.(973-975)ccG>ccA	p.P325P	MAK_ENST00000474039.1_Silent_p.P325P|MAK_ENST00000538030.1_Silent_p.P325P|MAK_ENST00000536370.1_3'UTR|MAK_ENST00000354489.2_Silent_p.P325P|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	325	Glu/Pro-rich.		P -> L. {ECO:0000269|PubMed:21835304}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CGATTATATCCGGCAGAGGCT	0.483													C|||	3	0.000599042	0.0	0.0	5008	,	,		15519	0.001		0.002	False		,,,				2504	0.0					ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(973-975)ccG>ccA		male germ cell-associated kinase		C	,	1,4405	2.1+/-5.4	0,1,2202	117.0	119.0	118.0		975,975	-0.8	0.8	6	dbSNP_134	118	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous	MAK	NM_001242385.1,NM_005906.4	,	0,12,6491	TT,TC,CC		0.1279,0.0227,0.0923	,	325/584,325/624	10796399	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10796399C>T		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.975G>A	6.37:g.10796399C>T						MAK_ENST00000536370.1_3'UTR|MAK_ENST00000474039.1_Silent_p.P325P|MAK_ENST00000354489.2_Silent_p.P325P|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Silent_p.P325P|RP11-637O19.3_ENST00000480294.1_Intron	p.P325P			P20794	MAK_HUMAN			9	1357	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	325			Glu/Pro-rich.		F1T0K6|G1FL29|Q547D0|Q9NUH7	Silent	SNP	ENST00000313243.2	37	c.975G>A	CCDS4516.1																																																																																				0.483	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		28	62	0	0	0	1	0	28	62				
AMPD3	272	broad.mit.edu	37	11	10521689	10521689	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10521689C>T	ENST00000396554.3	+	11	1982	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000444303.2_Silent_p.S379S	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	538					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACATGTTTTCCGACAAGAGCC	0.567																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1135-1137)tcC>tcT		adenosine monophosphate deaminase 3							252.0	193.0	213.0					11																	10521689		2201	4294	6495	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10521689C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1641C>T	11.37:g.10521689C>T						AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.S547S	p.S379S	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	10	1609	+			538					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.1137C>T	CCDS7802.1																																																																																				0.567	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		29	70	0	0	0	1	0	29	70				
BEND2	139105	broad.mit.edu	37	X	18230697	18230697	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18230697G>T	ENST00000380033.4	-	4	612	c.480C>A	c.(478-480)ttC>ttA	p.F160L	BEND2_ENST00000380030.3_Missense_Mutation_p.F160L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	160								p.F160F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTGGAGTATAGAATCTTCCTC	0.328																																						ENST00000380033.4																			1	Substitution - coding silent(1)	p.F160F(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(478-480)ttC>ttA		BEN domain containing 2							150.0	139.0	143.0					X																	18230697		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18230697G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.480C>A	X.37:g.18230697G>T	ENSP00000369372:p.Phe160Leu					BEND2_ENST00000380030.3_Missense_Mutation_p.F160L	p.F160L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			4	612	-			160					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.480C>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.960951	0.00465	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.26223	1.82;1.75	3.51	-4.84	0.03151	.	4.302610	0.00659	N	0.000599	T	0.07007	0.0178	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24835	-1.0149	10	0.02654	T	1	.	1.166	0.01815	0.4777:0.1099:0.1613:0.2511	.	160;160	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	L	160	ENSP00000369372:F160L;ENSP00000369369:F160L	ENSP00000369369:F160L	F	-	3	2	BEND2	18140618	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.536000	0.00438	-0.750000	0.04740	-2.268000	0.00277	TTC		0.328	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		4	49	1	0	0.00024832	1	0.000265255	4	49				
OR2T1	26696	broad.mit.edu	37	1	248569685	248569685	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248569685G>T	ENST00000366474.1	+	1	390	c.390G>T	c.(388-390)aaG>aaT	p.K130N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K130N(1)		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)			TTGTGCCTAAGATGCTGGTTA	0.453																																						ENST00000366474.1																			1	Substitution - Missense(1)	p.K130N(1)	lung(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(388-390)aaG>aaT		olfactory receptor, family 2, subfamily T, member 1							190.0	181.0	184.0					1																	248569685		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569685G>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.390G>T	1.37:g.248569685G>T	ENSP00000355430:p.Lys130Asn						p.K130N	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	390	+	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)		130					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.390G>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	g	14.75	2.627981	0.46944	.	.	ENSG00000175143	ENST00000366474	T	0.00469	7.21	4.75	0.546	0.17196	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38548	U	0.001642	T	0.00608	0.0020	L	0.35341	1.055	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54781	-0.8242	10	0.87932	D	0	.	5.1983	0.15250	0.1636:0.0:0.4453:0.391	.	130	O43869	OR2T1_HUMAN	N	130	ENSP00000355430:K130N	ENSP00000355430:K130N	K	+	3	2	OR2T1	246636308	0.000000	0.05858	0.999000	0.59377	0.902000	0.53008	-1.385000	0.02540	0.595000	0.29777	0.650000	0.86243	AAG		0.453	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			45	100	1	0	2.35958e-20	1	3.23214e-20	45	100				
NR6A1	2649	broad.mit.edu	37	9	127302467	127302467	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:127302467C>A	ENST00000487099.2	-	5	599		c.e5-1		NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000416460.2_Splice_Site|NR6A1_ENST00000373584.3_Splice_Site	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1						cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CTTCCGATATCTTTGACAAGG	0.453																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.e5-1		nuclear receptor subfamily 6, group A, member 1							188.0	160.0	169.0					9																	127302467		2203	4300	6503	SO:0001630	splice_region_variant	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127302467C>A	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.442-1G>T	9.37:g.127302467C>A						NR6A1_ENST00000373584.3_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000416460.2_Splice_Site		NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			5	599	-								O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Splice_Site	SNP	ENST00000487099.2	37		CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633151	0.87660	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NR6A1	126342288	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.263000	0.78421	2.840000	0.97914	0.655000	0.94253	.		0.453	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4		Intron	34	66	1	0	1.36161e-19	1	1.85609e-19	34	66				
GBF1	8729	broad.mit.edu	37	10	104130495	104130495	+	Nonsense_Mutation	SNP	C	C	T	rs372057718		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:104130495C>T	ENST00000369983.3	+	29	3795	c.3535C>T	c.(3535-3537)Cga>Tga	p.R1179*		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1179					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCAGACTGTTCGAGACCATCT	0.567																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(3535-3537)Cga>Tga		golgi brefeldin A resistant guanine nucleotide exchange factor 1							235.0	187.0	203.0					10																	104130495		2203	4300	6503	SO:0001587	stop_gained	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104130495C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3535C>T	10.37:g.104130495C>T	ENSP00000359000:p.Arg1179*						p.R1179*	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	29	3795	+		Colorectal(252;0.0236)	1179					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Nonsense_Mutation	SNP	ENST00000369983.3	37	c.3535C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	43	10.273281	0.99372	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.36	3.47	0.39725	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-1.9796	14.4869	0.67624	0.2687:0.7313:0.0:0.0	.	.	.	.	X	1179	.	ENSP00000359000:R1179X	R	+	1	2	GBF1	104120485	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.987000	0.49378	0.794000	0.33899	-0.181000	0.13052	CGA		0.567	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			30	69	0	0	0	1	0	30	69				
GRM6	2916	broad.mit.edu	37	5	178416330	178416330	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178416330C>A	ENST00000517717.1	-	6	1127	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	GRM6_ENST00000231188.5_Missense_Mutation_p.E363D|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	363					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGTTAAAATTCTCTTCCCAGA	0.547																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1087-1089)gaG>gaT		glutamate receptor, metabotropic 6							95.0	93.0	94.0					5																	178416330		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416330C>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1089G>T	5.37:g.178416330C>A	ENSP00000430767:p.Glu363Asp					GRM6_ENST00000517717.1_Missense_Mutation_p.E363D|RP11-281O15.4_ENST00000519491.1_RNA	p.E363D	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	5	1267	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	363						Missense_Mutation	SNP	ENST00000517717.1	37	c.1089G>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	7.603	0.673092	0.14776	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.86030	-2.06;-2.06	5.07	0.809	0.18725	Extracellular ligand-binding receptor (1);	.	.	.	.	T	0.67211	0.2869	N	0.16098	0.37	0.35270	D	0.780358	B	0.06786	0.001	B	0.11329	0.006	T	0.56195	-0.8019	9	0.16896	T	0.51	.	4.8457	0.13512	0.0:0.432:0.2741:0.2939	.	363	O15303	GRM6_HUMAN	D	395;363;363	ENSP00000231188:E363D;ENSP00000430767:E363D	ENSP00000231188:E363D	E	-	3	2	GRM6	178348936	0.574000	0.26684	1.000000	0.80357	0.977000	0.68977	-0.032000	0.12266	0.266000	0.21894	0.655000	0.94253	GAG		0.547	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			25	47	1	0	1.10923e-09	1	1.34134e-09	25	47				
JPH4	84502	broad.mit.edu	37	14	24040637	24040637	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24040637C>T	ENST00000397118.3	-	6	2205	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	JPH4_ENST00000356300.4_Missense_Mutation_p.D435N|JPH4_ENST00000544177.1_Missense_Mutation_p.D100N	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	435					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCTCCGTGTCGGAACCTTCT	0.617																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1303-1305)Gac>Aac		junctophilin 4							42.0	43.0	42.0					14																	24040637		2202	4300	6502	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040637C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1303G>A	14.37:g.24040637C>T	ENSP00000380307:p.Asp435Asn					JPH4_ENST00000544177.1_Missense_Mutation_p.D100N|JPH4_ENST00000356300.4_Missense_Mutation_p.D435N	p.D435N	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2205	-	all_cancers(95;0.000251)		435					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1303G>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199459	0.79015	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.69561	0.26;0.26;-0.41	5.17	5.17	0.71159	.	0.000000	0.31519	U	0.007514	T	0.74107	0.3673	L	0.38175	1.15	0.38337	D	0.943979	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.959	T	0.77104	-0.2711	10	0.54805	T	0.06	.	14.5198	0.67842	0.0:1.0:0.0:0.0	.	100;435	F5H1L9;Q96JJ6	.;JPH4_HUMAN	N	435;435;435;436;100	ENSP00000348648:D435N;ENSP00000380307:D435N;ENSP00000439562:D100N	ENSP00000267407:D436N	D	-	1	0	JPH4	23110477	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.085000	0.57657	2.575000	0.86900	0.655000	0.94253	GAC		0.617	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		19	42	0	0	0	1	0	19	42				
LRRCC1	85444	broad.mit.edu	37	8	86027431	86027431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:86027431C>A	ENST00000360375.3	+	5	790	c.641C>A	c.(640-642)tCa>tAa	p.S214*	LRRCC1_ENST00000414626.2_Nonsense_Mutation_p.S194*	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	214	LRRCT.				mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAAATAAATTCATCACAGCTG	0.353																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(580-582)tCa>tAa		leucine rich repeat and coiled-coil centrosomal protein 1							96.0	97.0	97.0					8																	86027431		1823	4084	5907	SO:0001587	stop_gained	85444				cell division|mitosis	centriole|nucleus		g.chr8:86027431C>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.641C>A	8.37:g.86027431C>A	ENSP00000353538:p.Ser214*					LRRCC1_ENST00000360375.3_Nonsense_Mutation_p.S214*	p.S194*			Q9C099	LRCC1_HUMAN			4	1470	+			214			LRRCT.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Nonsense_Mutation	SNP	ENST00000360375.3	37	c.581C>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818150	0.96982	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	.	.	.	5.52	3.58	0.41010	.	1.040790	0.07723	N	0.943872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1258	7.7103	0.28673	0.0:0.7066:0.1306:0.1628	.	.	.	.	X	121;214;194	.	ENSP00000353538:S214X	S	+	2	0	LRRCC1	86214683	0.093000	0.21703	0.161000	0.22692	0.835000	0.47333	1.047000	0.30367	0.575000	0.29434	0.460000	0.39030	TCA		0.353	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		16	35	1	0	0.000566183	1	0.00059967	16	35				
GYS2	2998	broad.mit.edu	37	12	21733410	21733410	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21733410C>T	ENST00000261195.2	-	2	423	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	57					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCCCATTCATCTGCTGTTGTT	0.363																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(169-171)Gat>Aat		glycogen synthase 2 (liver)							192.0	183.0	186.0					12																	21733410		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733410C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.169G>A	12.37:g.21733410C>T	ENSP00000261195:p.Asp57Asn						p.D57N	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			2	423	-			57					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.169G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901798	0.52227	.	.	ENSG00000111713	ENST00000261195	T	0.65364	-0.15	5.31	3.39	0.38822	.	0.209202	0.48767	N	0.000169	T	0.45716	0.1356	N	0.21240	0.645	0.58432	D	0.99999	B	0.02656	0.0	B	0.17722	0.019	T	0.23833	-1.0177	10	0.27082	T	0.32	-15.7034	11.0296	0.47765	0.0:0.8429:0.0:0.1571	.	57	P54840	GYS2_HUMAN	N	57	ENSP00000261195:D57N	ENSP00000261195:D57N	D	-	1	0	GYS2	21624677	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.628000	0.54259	0.723000	0.32274	0.563000	0.77884	GAT		0.363	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		25	55	0	0	0	1	0	25	55				
MTF1	4520	broad.mit.edu	37	1	38304324	38304324	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38304324C>T	ENST00000373036.4	-	4	892	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	251					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R251Q(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTATGAGTTCGAATGTGCTT	0.438																																						ENST00000373036.4																			1	Substitution - Missense(1)	p.R251Q(1)	large_intestine(1)	endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(751-753)cGa>cAa		metal-regulatory transcription factor 1							161.0	137.0	145.0					1																	38304324		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38304324C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.752G>A	1.37:g.38304324C>T	ENSP00000362127:p.Arg251Gln						p.R251Q	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			4	892	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	251					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.752G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	36	5.746101	0.96882	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.24723	1.84	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.70903	2.155	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.55438	-0.8141	10	0.72032	D	0.01	.	19.1431	0.93452	0.0:1.0:0.0:0.0	.	251	Q14872	MTF1_HUMAN	Q	251;119	ENSP00000362127:R251Q	ENSP00000362127:R251Q	R	-	2	0	MTF1	38076911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.590000	0.87494	0.563000	0.77884	CGA		0.438	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		19	46	0	0	0	1	0	19	46				
UAP1	6675	broad.mit.edu	37	1	162536047	162536047	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:162536047G>T	ENST00000367925.1	+	1	221	c.189G>T	c.(187-189)aaG>aaT	p.K63N	UAP1_ENST00000367926.4_Missense_Mutation_p.K63N|UAP1_ENST00000367924.1_Missense_Mutation_p.K63N|UAP1_ENST00000271469.3_Missense_Mutation_p.K63N			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	63					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)			CTCACCAAAAGAATGTGGATG	0.478																																						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.(187-189)aaG>aaT		UDP-N-acteylglucosamine pyrophosphorylase 1							92.0	82.0	86.0					1																	162536047		2203	4300	6503	SO:0001583	missense	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.chr1:162536047G>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.189G>T	1.37:g.162536047G>T	ENSP00000356902:p.Lys63Asn					UAP1_ENST00000367925.1_Missense_Mutation_p.K63N|UAP1_ENST00000367924.1_Missense_Mutation_p.K63N|UAP1_ENST00000367926.4_Missense_Mutation_p.K63N	p.K63N			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	491	+	all_hematologic(112;0.115)		63					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.189G>T		.	.	.	.	.	.	.	.	.	.	G	12.08	1.830613	0.32329	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	5.3	1.89	0.25635	.	0.106317	0.64402	D	0.000007	T	0.02083	0.0065	N	0.04203	-0.255	0.32000	N	0.6035349999999999	B	0.16396	0.017	B	0.20384	0.029	T	0.47420	-0.9119	9	0.23891	T	0.37	-10.7503	7.9455	0.29985	0.3233:0.0:0.6767:0.0	.	63	Q16222-2	.	N	63	ENSP00000395648:K63N;ENSP00000356903:K63N;ENSP00000271469:K63N;ENSP00000356902:K63N;ENSP00000356901:K63N	ENSP00000271469:K63N	K	+	3	2	UAP1	160802671	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	0.888000	0.28268	0.078000	0.16900	0.591000	0.81541	AAG		0.478	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		14	15	1	0	1.41608e-15	1	1.86784e-15	14	15				
DDTL	100037417	broad.mit.edu	37	22	24313580	24313580	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24313580C>A	ENST00000215770.5	+	3	404	c.390C>A	c.(388-390)ttC>ttA	p.F130L	DDT_ENST00000350608.3_3'UTR|DDT_ENST00000398344.4_3'UTR|KB-226F1.2_ENST00000609736.1_lincRNA|DDT_ENST00000404092.1_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	130						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lyase activity (GO:0016829)			kidney(1)|urinary_tract(1)	2						AAGCTCTCTTCATTTATTTCA	0.473																																						ENST00000215770.5																			0				kidney(1)|urinary_tract(1)	2						c.(388-390)ttC>ttA		D-dopachrome tautomerase-like							87.0	88.0	88.0					22																	24313580		2203	4299	6502	SO:0001583	missense	100037417					cytoplasm	lyase activity	g.chr22:24313580C>A	CR606018	CCDS42988.1	22q11.23	2008-06-10			ENSG00000099974	ENSG00000099974			33446	protein-coding gene	gene with protein product	"""D-dopachrome decarboxylase-like protein"""					9729470, 10591208	Standard	NM_001084393		Approved		uc002zyy.4	A6NHG4	OTTHUMG00000150800	ENST00000215770.5:c.390C>A	22.37:g.24313580C>A	ENSP00000215770:p.Phe130Leu					DDT_ENST00000398344.4_3'UTR|DDT_ENST00000404092.1_3'UTR|DDT_ENST00000350608.3_3'UTR	p.F130L	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN			3	404	+			130					B4DJJ7	Missense_Mutation	SNP	ENST00000215770.5	37	c.390C>A	CCDS42988.1	.	.	.	.	.	.	.	.	.	.	.	8.520	0.868548	0.17322	.	.	ENSG00000099974	ENST00000215770	.	.	.	3.75	0.0187	0.14117	.	.	.	.	.	T	0.21550	0.0519	N	0.08118	0	0.33045	D	0.531931	B	0.32781	0.384	B	0.35312	0.2	T	0.27872	-1.0061	8	0.87932	D	0	.	5.5738	0.17212	0.0:0.5459:0.0:0.4541	.	130	A6NHG4	DDTL_HUMAN	L	130	.	ENSP00000215770:F130L	F	+	3	2	DDTL	22643580	0.001000	0.12720	0.475000	0.27278	0.556000	0.35491	-0.200000	0.09478	0.074000	0.16767	0.638000	0.83543	TTC		0.473	DDTL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320142.1	NM_001084393		24	42	1	0	0.00278032	1	0.00290051	24	42				
ATP7B	540	broad.mit.edu	37	13	52548571	52548571	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52548571C>A	ENST00000242839.4	-	2	941	c.785G>T	c.(784-786)aGa>aTa	p.R262I	ATP7B_ENST00000542656.1_Missense_Mutation_p.R230I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.R262I|ATP7B_ENST00000448424.2_Missense_Mutation_p.R262I|ATP7B_ENST00000344297.5_Missense_Mutation_p.R262I|ATP7B_ENST00000400370.3_Missense_Mutation_p.R262I|ATP7B_ENST00000418097.2_Missense_Mutation_p.R262I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	262	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCCATCTATTCTCAGTTGGAG	0.418									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(784-786)aGa>aTa		ATPase, Cu++ transporting, beta polypeptide							100.0	95.0	97.0					13																	52548571		1854	4100	5954	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548571C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.785G>T	13.37:g.52548571C>A	ENSP00000242839:p.Arg262Ile					ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.R262I|ATP7B_ENST00000400366.3_Missense_Mutation_p.R262I|ATP7B_ENST00000418097.2_Missense_Mutation_p.R262I|ATP7B_ENST00000542656.1_Missense_Mutation_p.R230I|ATP7B_ENST00000344297.5_Missense_Mutation_p.R262I|ATP7B_ENST00000448424.2_Missense_Mutation_p.R262I	p.R262I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	941	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	262			HMA 3.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.785G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931800	0.34096	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D;D	0.87256	-2.21;-2.23;-2.21;-2.21;-2.21;-2.21;-2.21	6.02	4.26	0.50523	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.914538	0.09621	N	0.777600	D	0.87075	0.6087	N	0.20304	0.555	0.18873	N	0.999981	P;B;B;B;D;B;D;B	0.63880	0.886;0.021;0.002;0.34;0.993;0.336;0.958;0.006	P;B;B;B;D;B;P;B	0.66716	0.847;0.044;0.026;0.257;0.946;0.113;0.815;0.014	T	0.75923	-0.3146	10	0.33940	T	0.23	0.0359	9.5557	0.39337	0.0:0.7529:0.123:0.1241	.	230;262;262;262;262;262;262;262	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	I	262;262;262;262;262;262;230	ENSP00000242839:R262I;ENSP00000383217:R262I;ENSP00000342559:R262I;ENSP00000416738:R262I;ENSP00000383221:R262I;ENSP00000393343:R262I;ENSP00000443128:R230I	ENSP00000242839:R262I	R	-	2	0	ATP7B	51446572	0.002000	0.14202	0.006000	0.13384	0.934000	0.57294	1.541000	0.36126	1.527000	0.49086	0.655000	0.94253	AGA		0.418	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		24	66	1	0	2.52088e-20	1	3.4514e-20	24	66				
ACRC	93953	broad.mit.edu	37	X	70832208	70832208	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70832208G>A	ENST00000373695.1	+	11	2291	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.R585Q			Q96QF7	ACRC_HUMAN	acidic repeat containing	585	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTTCAAGACCGAATCCGGGAT	0.378																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1753-1755)cGa>cAa		acidic repeat containing							39.0	33.0	35.0					X																	70832208		2203	4298	6501	SO:0001583	missense	93953					nucleus		g.chrX:70832208G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1754G>A	X.37:g.70832208G>A	ENSP00000362799:p.Arg585Gln					ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.R585Q	p.R585Q			Q96QF7	ACRC_HUMAN			11	2291	+	Renal(35;0.156)		585					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1754G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.034650	0.75617	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.47869	0.83;0.83	4.41	4.41	0.53225	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.73009	0.3532	M	0.90705	3.14	0.50171	D	0.999851	D	0.89917	1.0	D	0.91635	0.999	T	0.79685	-0.1700	9	0.87932	D	0	.	13.6825	0.62493	0.0:0.0:1.0:0.0	.	585	Q96QF7	ACRC_HUMAN	Q	585	ENSP00000362800:R585Q;ENSP00000362799:R585Q	ENSP00000362799:R585Q	R	+	2	0	ACRC	70748933	1.000000	0.71417	0.788000	0.31933	0.418000	0.31294	7.215000	0.77966	2.187000	0.69744	0.287000	0.19450	CGA		0.378	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			7	11	0	0	0	1	0	7	11				
DNAH3	55567	broad.mit.edu	37	16	21145624	21145624	+	Silent	SNP	C	C	T	rs138812210		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21145624C>T	ENST00000261383.3	-	7	1037	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	DNAH3_ENST00000415178.1_Silent_p.T346T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	346	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGGTTCACCGTGTGCAGAT	0.527																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1036-1038)acG>acA		dynein, axonemal, heavy chain 3		C		0,4402		0,0,2201	111.0	103.0	106.0		1038	-11.4	0.2	16	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DNAH3	NM_017539.1		0,2,6499	TT,TC,CC		0.0233,0.0,0.0154		346/4117	21145624	2,13000	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145624C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1038G>A	16.37:g.21145624C>T						DNAH3_ENST00000415178.1_Silent_p.T346T	p.T346T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	7	1037	-			346			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.1038G>A	CCDS10594.1																																																																																				0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		45	86	0	0	0	1	0	45	86				
SLC5A2	6524	broad.mit.edu	37	16	31500065	31500065	+	Missense_Mutation	SNP	G	G	A	rs537966489	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31500065G>A	ENST00000330498.3	+	10	1271	c.1252G>A	c.(1252-1254)Ggc>Agc	p.G418S	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	418					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCCACGCGCCGGCGACCGCGA	0.711													G|||	2	0.000399361	0.0	0.0	5008	,	,		14971	0.0		0.001	False		,,,				2504	0.001					ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1252-1254)Ggc>Agc		solute carrier family 5 (sodium/glucose cotransporter), member 2							13.0	13.0	13.0					16																	31500065		2191	4294	6485	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500065G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1252G>A	16.37:g.31500065G>A	ENSP00000327943:p.Gly418Ser						p.G418S	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			10	1271	+			418					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1252G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.360315	0.01245	.	.	ENSG00000140675	ENST00000330498	D	0.86694	-2.16	4.46	-1.11	0.09840	.	0.660669	0.15277	N	0.270905	T	0.56949	0.2020	N	0.00873	-1.125	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.56135	-0.8029	10	0.02654	T	1	.	8.489	0.33089	0.4676:0.0:0.5324:0.0	.	418	P31639	SC5A2_HUMAN	S	418	ENSP00000327943:G418S	ENSP00000327943:G418S	G	+	1	0	SLC5A2	31407566	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-0.884000	0.04166	-0.336000	0.08438	-0.254000	0.11334	GGC		0.711	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			12	26	0	0	0	1	0	12	26				
ZNF91	7644	broad.mit.edu	37	19	23544756	23544756	+	Missense_Mutation	SNP	C	C	A	rs374821944	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23544756C>A	ENST00000300619.7	-	4	1230	c.1025G>T	c.(1024-1026)aGa>aTa	p.R342I	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R310I	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	342					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R342I(2)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTATGAATTCTCTTATGTTT	0.373													C|||	4	0.000798722	0.0	0.0	5008	,	,		19898	0.0		0.0	False		,,,				2504	0.0041					ENST00000300619.7																			2	Substitution - Missense(2)	p.R342I(2)	large_intestine(1)|lung(1)								c.(1024-1026)aGa>aTa		zinc finger protein 91		C	ILE/ARG	0,4132		0,0,2066	58.0	61.0	60.0		1025	1.0	0.0	19		60	1,8461		0,1,4230	no	missense	ZNF91	NM_003430.2	97	0,1,6296	AA,AC,CC		0.0118,0.0,0.0079	probably-damaging	342/1192	23544756	1,12593	2066	4231	6297	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544756C>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1025G>T	19.37:g.23544756C>A	ENSP00000300619:p.Arg342Ile					ZNF91_ENST00000397082.2_Missense_Mutation_p.R310I|ZNF91_ENST00000599743.1_Intron	p.R342I	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1230	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	342					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1025G>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581142	0.28180	0.0	1.18E-4	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.24908	1.83;1.83	2.15	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34221	0.0890	L	0.41492	1.28	0.09310	N	1	B;D	0.67145	0.413;0.996	B;D	0.66847	0.109;0.947	T	0.11060	-1.0603	9	0.51188	T	0.08	.	5.9371	0.19171	0.0:0.6965:0.0:0.3035	.	310;342	Q05481-2;Q05481	.;ZNF91_HUMAN	I	342;310	ENSP00000300619:R342I;ENSP00000380272:R310I	ENSP00000300619:R342I	R	-	2	0	ZNF91	23336596	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-2.511000	0.00958	0.232000	0.21100	0.162000	0.16502	AGA		0.373	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		19	49	1	0	1.28384e-07	1	1.48174e-07	19	49				
ARAF	369	broad.mit.edu	37	X	47424688	47424688	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47424688A>G	ENST00000377045.4	+	6	690	c.496A>G	c.(496-498)Aga>Gga	p.R166G	ARAF_ENST00000377039.2_Missense_Mutation_p.R166G|ARAF_ENST00000290277.6_Missense_Mutation_p.R166G	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	166					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CGGAGGCTCCAGACAGCATGA	0.582																																						ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(496-498)Aga>Gga		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						69.0	60.0	63.0					X																	47424688		2203	4300	6503	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47424688A>G	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.496A>G	X.37:g.47424688A>G	ENSP00000366244:p.Arg166Gly					ARAF_ENST00000377039.2_Missense_Mutation_p.R166G|ARAF_ENST00000290277.6_Missense_Mutation_p.R166G	p.R166G	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			6	690	+			166					P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.496A>G	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	a	10.43	1.347973	0.24426	.	.	ENSG00000078061	ENST00000377045;ENST00000290277;ENST00000377039	T;D;D	0.94330	-0.81;-3.4;-3.4	5.52	1.68	0.24146	.	0.667592	0.15630	N	0.252407	D	0.86213	0.5879	L	0.36672	1.1	0.29451	N	0.858422	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.74899	-0.3507	10	0.24483	T	0.36	.	4.7642	0.13123	0.5177:0.3813:0.101:0.0	.	166;32	P10398;B4DV85	ARAF_HUMAN;.	G	166	ENSP00000366244:R166G;ENSP00000290277:R166G;ENSP00000366238:R166G	ENSP00000290277:R166G	R	+	1	2	ARAF	47309632	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	1.091000	0.30915	0.853000	0.35312	0.478000	0.44815	AGA		0.582	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			9	67	0	0	0	1	0	9	67				
URB2	9816	broad.mit.edu	37	1	229773496	229773496	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:229773496G>A	ENST00000258243.2	+	4	3272	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1046						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAACAATTAGAAAATCAGAA	0.483																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(3136-3138)Gaa>Aaa		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							49.0	52.0	51.0					1																	229773496		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773496G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3136G>A	1.37:g.229773496G>A	ENSP00000258243:p.Glu1046Lys						p.E1046K	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	3272	+			1046					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.3136G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	8.810	0.935019	0.18206	.	.	ENSG00000135763	ENST00000258243	T	0.29397	1.57	5.38	0.675	0.17952	.	0.948671	0.08917	N	0.874920	T	0.16214	0.0390	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32188	-0.9916	9	.	.	.	-3.716	8.8274	0.35063	0.5962:0.0:0.4038:0.0	.	1046	Q14146	URB2_HUMAN	K	1046	ENSP00000258243:E1046K	.	E	+	1	0	URB2	227840119	0.001000	0.12720	0.009000	0.14445	0.037000	0.13140	0.987000	0.29603	0.181000	0.19994	0.585000	0.79938	GAA		0.483	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		22	38	0	0	0	1	0	22	38				
ATG2B	55102	broad.mit.edu	37	14	96798990	96798990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96798990C>A	ENST00000359933.4	-	9	2103	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	404					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AATACTTCTTCTTCTAGAGAG	0.378																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(1210-1212)Gaa>Taa		autophagy related 2B							61.0	60.0	60.0					14																	96798990		1824	4075	5899	SO:0001587	stop_gained	55102							g.chr14:96798990C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1210G>T	14.37:g.96798990C>A	ENSP00000353010:p.Glu404*						p.E404*	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	9	2103	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	404					Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	ENST00000359933.4	37	c.1210G>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	47	13.644734	0.99754	.	.	ENSG00000066739	ENST00000359933	.	.	.	6.06	6.06	0.98353	.	0.622148	0.15061	U	0.282735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	404	.	ENSP00000353010:E404X	E	-	1	0	ATG2B	95868743	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.244000	0.78228	2.882000	0.98803	0.655000	0.94253	GAA		0.378	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		18	19	1	0	5.03518e-11	1	6.23768e-11	18	19				
FMR1	2332	broad.mit.edu	37	X	147030228	147030228	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:147030228G>T	ENST00000370475.4	+	17	1891	c.1763G>T	c.(1762-1764)aGg>aTg	p.R588M	FMR1_ENST00000439526.2_Intron|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000218200.8_Missense_Mutation_p.R567M|FMR1_ENST00000370471.3_Nonsense_Mutation_p.G498*|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000370477.1_Intron|FMR1_ENST00000440235.2_Intron	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	588	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAAAGGAGTGTCCAC	0.403									Fragile X syndrome																													ENST00000370471.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1492-1494)Gga>Tga		fragile X mental retardation 1							108.0	95.0	99.0					X																	147030228		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147030228G>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1763G>T	X.37:g.147030228G>T	ENSP00000359506:p.Arg588Met					FMR1_ENST00000370475.4_Missense_Mutation_p.R588M|FMR1_ENST00000370477.1_Intron|FMR1_ENST00000218200.8_Missense_Mutation_p.R567M|FMR1_ENST00000440235.2_Intron|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000439526.2_Intron	p.G498*	NM_001185075.1|NM_001185081.1	NP_001172004.1|NP_001172010.1	Q06787	FMR1_HUMAN			16	1721	+	Acute lymphoblastic leukemia(192;6.56e-05)		608			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Nonsense_Mutation	SNP	ENST00000370475.4	37	c.1492G>T	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.211893|7.211893	0.98139|0.98139	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000370471|ENST00000218200;ENST00000370475	.|T;T	.|0.40225	.|1.05;1.04	5.31|5.31	4.44|4.44	0.53790|0.53790	.|.	.|0.044846	.|0.85682	.|D	.|0.000000	.|T	.|0.37625	.|0.1010	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.59357	.|0.938;0.975;0.985	.|P;P;P	.|0.52267	.|0.498;0.594;0.694	.|T	.|0.10520	.|-1.0626	.|10	0.87932|0.33940	D|T	0|0.23	-28.0715|-28.0715	12.1853|12.1853	0.54234|0.54234	0.0845:0.0:0.9155:0.0|0.0845:0.0:0.9155:0.0	.|.	.|588;483;542	.|Q06787;Q59GC1;Q06787-8	.|FMR1_HUMAN;.;.	X|M	498|567;588	.|ENSP00000218200:R567M;ENSP00000359506:R588M	ENSP00000359502:G498X|ENSP00000218200:R567M	G|R	+|+	1|2	0|0	FMR1|FMR1	146837920|146837920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.764000|4.764000	0.62264|0.62264	1.138000|1.138000	0.42230|0.42230	0.594000|0.594000	0.82650|0.82650	GGA|AGG		0.403	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		8	84	1	0	0.000157383	1	0.000169016	8	84				
NCAM1	4684	broad.mit.edu	37	11	113102483	113102483	+	Silent	SNP	C	C	A	rs375015033		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113102483C>A	ENST00000533760.1	+	9	1421	c.822C>A	c.(820-822)ggC>ggA	p.G274G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.G392G|NCAM1_ENST00000401611.2_Silent_p.G401G	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	402	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACACCATCGGCCAGGACTCCC	0.577																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1174-1176)ggC>ggA		neural cell adhesion molecule 1							93.0	97.0	96.0					11																	113102483		2149	4258	6407	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102483C>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.822C>A	11.37:g.113102483C>A						NCAM1_ENST00000533760.1_Silent_p.G274G|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G401G	p.G392G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	9	1176	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	402			Ig-like C2-type 4.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.1176C>A																																																																																					0.577	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		11	109	1	0	1.08611e-07	1	1.25818e-07	11	109				
TTN	7273	broad.mit.edu	37	2	179464378	179464378	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179464378A>G	ENST00000591111.1	-	239	51551	c.51327T>C	c.(51325-51327)gtT>gtC	p.V17109V	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.V18750V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.V16182V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.V9685V|TTN_ENST00000359218.5_Silent_p.V9810V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V9877V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17109	Ig-like 102.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGCGGAATAACTAAAGTGC	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(56248-56250)gtT>gtC		titin							219.0	208.0	212.0					2																	179464378		1927	4128	6055	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464378A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51327T>C	2.37:g.179464378A>G						TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.V9877V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V9810V|TTN_ENST00000342992.6_Silent_p.V16182V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.V9685V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.V17109V	p.V18750V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	56474	-			17109			Fibronectin type-III 36.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.56250T>C																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	89	0	0	0	1	0	50	89				
ITGA4	3676	broad.mit.edu	37	2	182339888	182339888	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182339888T>G	ENST00000397033.2	+	4	859	c.429T>G	c.(427-429)acT>acG	p.T143T	ITGA4_ENST00000339307.4_Silent_p.T143T|ITGA4_ENST00000478440.1_Intron	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	143					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTATTCAGACTTGTGGGCATA	0.408																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(427-429)acT>acG		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						79.0	78.0	79.0					2																	182339888		1839	4084	5923	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182339888T>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.429T>G	2.37:g.182339888T>G						ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Silent_p.T143T	p.T143T	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		4	859	+			143					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.429T>G	CCDS42788.1																																																																																				0.408	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			9	48	0	0	0	1	0	9	48				
HLTF	6596	broad.mit.edu	37	3	148756968	148756968	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148756968C>A	ENST00000310053.5	-	23	2857	c.2664G>T	c.(2662-2664)aaG>aaT	p.K888N	HLTF_ENST00000392912.2_Missense_Mutation_p.K888N|HLTF_ENST00000494055.1_Missense_Mutation_p.K888N|HLTF_ENST00000465259.1_Missense_Mutation_p.K887N	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	888	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAACTCTTTTCTTTTGGGCCA	0.373																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2662-2664)aaG>aaT		helicase-like transcription factor							66.0	64.0	64.0					3																	148756968		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148756968C>A	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2664G>T	3.37:g.148756968C>A	ENSP00000308944:p.Lys888Asn					HLTF_ENST00000494055.1_Missense_Mutation_p.K888N|HLTF_ENST00000392912.2_Missense_Mutation_p.K888N|HLTF_ENST00000465259.1_Missense_Mutation_p.K887N	p.K888N	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		23	2857	-			888			Helicase C-terminal.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.2664G>T	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004572	0.74932	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.98	4.21	0.49690	Helicase, C-terminal (3);	.	.	.	.	T	0.78830	0.4345	L	0.43554	1.36	0.45477	D	0.998444	D;D;D	0.89917	1.0;1.0;0.957	D;D;P	0.91635	0.995;0.999;0.818	T	0.76162	-0.3060	9	0.41790	T	0.15	-18.5878	8.63	0.33913	0.0:0.7125:0.0:0.2875	.	888;888;888	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	N	887;888;888;888;356	ENSP00000420745:K887N;ENSP00000308944:K888N;ENSP00000376644:K888N;ENSP00000420429:K888N;ENSP00000420106:K356N	ENSP00000308944:K888N	K	-	3	2	HLTF	150239658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.816000	0.38992	0.878000	0.35920	0.650000	0.86243	AAG		0.373	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			7	17	1	0	0.0381472	1	0.0387537	7	17				
DRC1	92749	broad.mit.edu	37	2	26667759	26667759	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:26667759T>C	ENST00000288710.2	+	10	1413	c.1339T>C	c.(1339-1341)Tct>Cct	p.S447P	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	447					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											tgggcctatttctcAGCAGCC	0.527																																						ENST00000288710.2																			0											c.(1339-1341)Tct>Cct		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							80.0	70.0	73.0					2																	26667759		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26667759T>C	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1339T>C	2.37:g.26667759T>C	ENSP00000288710:p.Ser447Pro					DRC1_ENST00000483675.1_3'UTR	p.S447P	NM_145038.2	NP_659475.2					10	1413	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1339T>C	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.094589	0.36952	.	.	ENSG00000157856	ENST00000288710	T	0.15718	2.4	5.17	5.17	0.71159	.	0.464650	0.22293	N	0.061965	T	0.28830	0.0715	M	0.76574	2.34	0.09310	N	0.999998	D	0.61080	0.989	P	0.54372	0.75	T	0.30268	-0.9984	10	0.40728	T	0.16	-5.0997	5.5067	0.16858	0.0:0.0888:0.1763:0.735	.	447	Q96MC2	CC164_HUMAN	P	447	ENSP00000288710:S447P	ENSP00000288710:S447P	S	+	1	0	CCDC164	26521263	0.888000	0.30383	0.349000	0.25694	0.257000	0.26127	3.302000	0.51849	1.941000	0.56285	0.383000	0.25322	TCT		0.527	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		6	42	0	0	0	1	0	6	42				
PLEKHS1	79949	broad.mit.edu	37	10	115529640	115529640	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115529640G>T	ENST00000369310.3	+	6	1077	c.515G>T	c.(514-516)aGa>aTa	p.R172I	PLEKHS1_ENST00000369309.1_5'Flank|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.R178I|PLEKHS1_ENST00000354462.3_5'Flank|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.R90I	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	172																	AGCTCACCAAGAAATGGTCTC	0.488																																						ENST00000361048.1																			0											c.(532-534)aGa>aTa		pleckstrin homology domain containing, family S member 1							111.0	106.0	108.0					10																	115529640		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115529640G>T	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.515G>T	10.37:g.115529640G>T	ENSP00000358316:p.Arg172Ile					PLEKHS1_ENST00000369310.3_Missense_Mutation_p.R172I|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.R90I	p.R178I	NM_024889.4	NP_079165.3					7	860	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.533G>T	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821249	0.71028	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.31769	1.48;1.48;1.48	5.93	5.93	0.95920	.	0.640013	0.16167	N	0.226470	T	0.56396	0.1982	M	0.72479	2.2	0.46798	D	0.999202	D;D;D	0.89917	1.0;0.993;1.0	D;P;D	0.76575	0.984;0.89;0.988	T	0.53092	-0.8487	10	0.59425	D	0.04	-20.6924	15.8369	0.78805	0.0:0.0:1.0:0.0	.	172;172;178	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	I	178;90;172	ENSP00000354332:R178I;ENSP00000358318:R90I;ENSP00000358316:R172I	ENSP00000354332:R178I	R	+	2	0	C10orf81	115519630	0.033000	0.19621	0.122000	0.21767	0.010000	0.07245	1.180000	0.32005	2.805000	0.96524	0.655000	0.94253	AGA		0.488	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		15	103	1	0	3.52763e-06	1	3.92945e-06	15	103				
NLRP7	199713	broad.mit.edu	37	19	55451265	55451265	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55451265C>T	ENST00000590030.1	-	3	962	c.922G>A	c.(922-924)Gac>Aac	p.D308N	NLRP7_ENST00000340844.2_Missense_Mutation_p.D308N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D336N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D308N|NLRP7_ENST00000588756.1_Missense_Mutation_p.D308N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D308N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D308N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	308	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCTGGAGGTCCCTCAGTGCC	0.617																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1006-1008)Gac>Aac		NLR family, pyrin domain containing 7							40.0	40.0	40.0					19																	55451265		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451265C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.922G>A	19.37:g.55451265C>T	ENSP00000465520:p.Asp308Asn					NLRP7_ENST00000448121.2_Missense_Mutation_p.D308N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D308N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D308N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D308N|NLRP7_ENST00000590030.1_Missense_Mutation_p.D308N|NLRP7_ENST00000588756.1_Missense_Mutation_p.D308N	p.D336N			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1408	-			308			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1006G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980765	0.53827	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	1.77	1.77	0.24775	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.74989	0.3789	N	0.20530	0.585	0.09310	N	1	D;D;D;D	0.60160	0.987;0.976;0.987;0.983	P;P;P;P	0.60286	0.872;0.872;0.872;0.798	T	0.63871	-0.6539	9	0.56958	D	0.05	.	9.5487	0.39297	0.0:1.0:0.0:0.0	.	336;308;308;308	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	308;308;308;336	ENSP00000329568:D308N;ENSP00000409137:D308N;ENSP00000339491:D308N;ENSP00000414273:D336N	ENSP00000329568:D308N	D	-	1	0	NLRP7	60143077	0.000000	0.05858	0.013000	0.15412	0.026000	0.11368	0.315000	0.19451	1.285000	0.44548	0.462000	0.41574	GAC		0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		17	27	0	0	0	1	0	17	27				
MYO19	80179	broad.mit.edu	37	17	34854398	34854398	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34854398T>C	ENST00000431794.3	-	25	2991	c.2469A>G	c.(2467-2469)agA>agG	p.R823R	MYO19_ENST00000268852.9_Silent_p.R623R|ZNHIT3_ENST00000588253.1_3'UTR	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	823						cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCAGGCCATTCTGATCTTAA	0.428																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(2467-2469)agA>agG		myosin XIX							38.0	37.0	37.0					17																	34854398		1923	4120	6043	SO:0001819	synonymous_variant	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34854398T>C	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2469A>G	17.37:g.34854398T>C						ZNHIT3_ENST00000588253.1_3'UTR|MYO19_ENST00000268852.9_Silent_p.R623R	p.R823R	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	25	2991	-		Breast(25;0.00957)|Ovarian(249;0.17)	823					Q59GS4|Q9H5X2	Silent	SNP	ENST00000431794.3	37	c.2469A>G	CCDS54112.1																																																																																				0.428	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		11	16	0	0	0	1	0	11	16				
LCE1E	353135	broad.mit.edu	37	1	152759805	152759805	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152759805C>T	ENST00000368770.3	+	2	83	c.30C>T	c.(28-30)tgC>tgT	p.C10C	LCE1E_ENST00000368771.1_Silent_p.C10C	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	10	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGCAGTGCCAGCCCCctc	0.597																																						ENST00000368770.3																			0				lung(5)|stomach(1)	6						c.(28-30)tgC>tgT		late cornified envelope 1E							112.0	120.0	117.0					1																	152759805		2203	4300	6503	SO:0001819	synonymous_variant	353135				keratinization			g.chr1:152759805C>T	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.30C>T	1.37:g.152759805C>T						LCE1E_ENST00000368771.1_Silent_p.C10C	p.C10C	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	83	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		10			Cys-rich.		D3DV30	Silent	SNP	ENST00000368770.3	37	c.30C>T	CCDS1024.1																																																																																				0.597	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		6	229	0	0	0	1	0	6	229				
FAXDC2	10826	broad.mit.edu	37	5	154203091	154203091	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154203091G>T	ENST00000326080.5	-	6	851	c.428C>A	c.(427-429)tCt>tAt	p.S143Y	FAXDC2_ENST00000517938.1_Missense_Mutation_p.S120Y|FAXDC2_ENST00000523997.1_5'Flank	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	143					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										CATGGGGAAAGATATCATGCA	0.557																																						ENST00000326080.5																			0											c.(427-429)tCt>tAt		fatty acid hydroxylase domain containing 2							117.0	119.0	119.0					5																	154203091		1994	4161	6155	SO:0001583	missense	10826							g.chr5:154203091G>T	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.428C>A	5.37:g.154203091G>T	ENSP00000320604:p.Ser143Tyr					FAXDC2_ENST00000517938.1_Missense_Mutation_p.S120Y	p.S143Y	NM_032385.3	NP_115761.2					6	851	-								B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	c.428C>A	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052392	0.75960	.	.	ENSG00000170271	ENST00000326080;ENST00000517938;ENST00000519501	T;T;T	0.71341	-0.56;-0.54;0.82	4.77	4.77	0.60923	.	0.052144	0.85682	D	0.000000	T	0.76572	0.4006	M	0.81682	2.555	0.80722	D	1	P	0.42649	0.786	B	0.44163	0.443	T	0.81435	-0.0934	10	0.62326	D	0.03	.	16.7832	0.85567	0.0:0.0:1.0:0.0	.	143	Q96IV6	CE004_HUMAN	Y	143;120;120	ENSP00000320604:S143Y;ENSP00000430286:S120Y;ENSP00000429837:S120Y	ENSP00000320604:S143Y	S	-	2	0	C5orf4	154183284	1.000000	0.71417	0.039000	0.18376	0.505000	0.33919	9.076000	0.94009	2.190000	0.69967	0.561000	0.74099	TCT		0.557	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		28	64	1	0	1.12875e-08	1	1.33677e-08	28	64				
PPP1R3A	5506	broad.mit.edu	37	7	113519436	113519436	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:113519436C>T	ENST00000284601.3	-	4	1779	c.1711G>A	c.(1711-1713)Gca>Aca	p.A571T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	571					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.A571T(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGGGGATTGCGGTATGTTCG	0.473																																						ENST00000284601.3																			1	Substitution - Missense(1)	p.A571T(1)	endometrium(1)	NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1711-1713)Gca>Aca		protein phosphatase 1, regulatory subunit 3A							119.0	111.0	114.0					7																	113519436		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519436C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1711G>A	7.37:g.113519436C>T	ENSP00000284601:p.Ala571Thr						p.A571T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1779	-			571					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1711G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.872	-0.731587	0.03135	.	.	ENSG00000154415	ENST00000284601	T	0.14893	2.47	5.69	-11.4	0.00090	.	1.150750	0.06242	N	0.690535	T	0.02649	0.0080	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.02654	T	1	-0.608	1.0004	0.01475	0.3109:0.2832:0.2229:0.1831	.	571	Q16821	PPR3A_HUMAN	T	571	ENSP00000284601:A571T	ENSP00000284601:A571T	A	-	1	0	PPP1R3A	113306672	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.806000	0.00183	-2.651000	0.00424	-2.136000	0.00340	GCA		0.473	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		37	50	0	0	0	1	0	37	50				
ZCCHC14	23174	broad.mit.edu	37	16	87454256	87454256	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:87454256A>G	ENST00000268616.4	-	5	713	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	166							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TCCACATAAAATGCGTCCGGA	0.562																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(496-498)Ttt>Ctt		zinc finger, CCHC domain containing 14							119.0	88.0	99.0					16																	87454256		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87454256A>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.496T>C	16.37:g.87454256A>G	ENSP00000268616:p.Phe166Leu						p.F166L	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	5	713	-			166					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.496T>C	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.551061	0.45383	.	.	ENSG00000140948	ENST00000268616	T	0.69040	-0.37	5.37	5.37	0.77165	Phox homologous domain (2);	0.192060	0.46758	D	0.000269	T	0.67163	0.2864	L	0.54323	1.7	0.32193	N	0.578768	P	0.48089	0.905	P	0.46026	0.501	T	0.75286	-0.3371	10	0.42905	T	0.14	-20.2972	15.3775	0.74621	1.0:0.0:0.0:0.0	.	166	Q8WYQ9	ZCH14_HUMAN	L	166	ENSP00000268616:F166L	ENSP00000268616:F166L	F	-	1	0	ZCCHC14	86011757	0.999000	0.42202	0.746000	0.31095	0.383000	0.30230	4.636000	0.61339	2.043000	0.60533	0.482000	0.46254	TTT		0.562	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		5	21	0	0	0	1	0	5	21				
TTC39B	158219	broad.mit.edu	37	9	15267934	15267934	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:15267934C>A	ENST00000512701.2	-	2	289	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	TTC39B_ENST00000380850.4_Missense_Mutation_p.D85Y|TTC39B_ENST00000355694.2_Missense_Mutation_p.D19Y|TTC39B_ENST00000541445.1_Missense_Mutation_p.D19Y|TTC39B_ENST00000297615.5_Missense_Mutation_p.D85Y			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	85										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TCCAAGGCATCTTCGAAAACG	0.299																																						ENST00000355694.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(55-57)Gat>Tat		tetratricopeptide repeat domain 39B							71.0	72.0	72.0					9																	15267934		2202	4299	6501	SO:0001583	missense	158219						binding	g.chr9:15267934C>A	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.253G>T	9.37:g.15267934C>A	ENSP00000422496:p.Asp85Tyr					TTC39B_ENST00000297615.5_Missense_Mutation_p.D85Y|TTC39B_ENST00000512701.1_Missense_Mutation_p.D85Y|TTC39B_ENST00000380850.4_Missense_Mutation_p.D85Y|TTC39B_ENST00000541445.1_Missense_Mutation_p.D19Y	p.D19Y	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN			2	289	-			19					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.55G>T	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704275	0.48412	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000541445;ENST00000506891	T;T;T;T;T	0.56941	1.11;0.86;1.29;1.11;0.43	3.5	3.5	0.40072	.	.	.	.	.	T	0.68192	0.2974	M	0.71206	2.165	0.39744	D	0.97179	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.77557	0.976;0.99;0.99;0.99;0.99	T	0.72597	-0.4245	9	0.87932	D	0	-1.8889	10.8024	0.46495	0.0:1.0:0.0:0.0	.	85;85;85;19;19	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	Y	85;85;19;85;19;47	ENSP00000370231:D85Y;ENSP00000297615:D85Y;ENSP00000347920:D19Y;ENSP00000422496:D85Y;ENSP00000442880:D19Y	ENSP00000297615:D85Y	D	-	1	0	TTC39B	15257934	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.018000	0.49625	2.239000	0.73571	0.484000	0.47621	GAT		0.299	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		15	32	1	0	3.27435e-08	1	3.83577e-08	15	32				
FASLG	356	broad.mit.edu	37	1	172633520	172633520	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172633520C>T	ENST00000367721.2	+	3	625	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	147					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGAAAGTGGCCCATTTAACAG	0.428																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						c.(439-441)gcC>gcT		Fas ligand (TNF superfamily, member 6)							61.0	60.0	60.0					1																	172633520		2203	4300	6503	SO:0001819	synonymous_variant	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172633520C>T	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.441C>T	1.37:g.172633520C>T						FASLG_ENST00000340030.3_3'UTR	p.A147A	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN			3	625	+			147					Q9BZP9	Silent	SNP	ENST00000367721.2	37	c.441C>T	CCDS1304.1																																																																																				0.428	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			4	26	0	0	0	1	0	4	26				
CDC27	996	broad.mit.edu	37	17	45258949	45258949	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45258949C>T	ENST00000066544.3	-	2	175	c.82G>A	c.(82-84)Gca>Aca	p.A28T	CDC27_ENST00000446365.2_Missense_Mutation_p.R16H|CDC27_ENST00000531206.1_Missense_Mutation_p.A28T|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Missense_Mutation_p.A28T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.A28T(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGGCGTTCTGCGAGGAAAACC	0.348																																						ENST00000066544.3																			1	Substitution - Missense(1)	p.A28T(1)	large_intestine(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(82-84)Gca>Aca		cell division cycle 27							37.0	36.0	37.0					17																	45258949		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45258949C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.82G>A	17.37:g.45258949C>T	ENSP00000066544:p.Ala28Thr					CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.A28T|CDC27_ENST00000527547.1_Missense_Mutation_p.A28T|CDC27_ENST00000446365.2_Missense_Mutation_p.R16H	p.A28T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			2	175	-			28					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.82G>A	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.343094|5.343094	0.95783|0.95783	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000533415;ENST00000527547;ENST00000526866|ENST00000446365	T;T;T;T|T	0.80566|0.62639	-1.33;-1.39;-1.33;-0.27|0.01	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61022|0.61022	0.2314|0.2314	M|M	0.82193|0.82193	2.58|2.58	0.41596|0.41596	D|D	0.988827|0.988827	D;D;D|P	0.71674|0.40931	0.997;0.998;0.997|0.733	P;D;D|B	0.65874|0.28638	0.864;0.939;0.909|0.092	T|T	0.71391|0.71391	-0.4607|-0.4607	10|9	0.72032|0.54805	D|T	0.01|0.06	-22.578|-22.578	15.3144|15.3144	0.74062|0.74062	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28;28|16	G5EA36;G3V1C4;P30260|B4DL80	.;.;CDC27_HUMAN|.	T|H	28|16	ENSP00000066544:A28T;ENSP00000434614:A28T;ENSP00000437339:A28T;ENSP00000432105:A28T|ENSP00000392802:R16H	ENSP00000066544:A28T|ENSP00000392802:R16H	A|R	-|-	1|2	0|0	CDC27|CDC27	42613948|42613948	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.924000|0.924000	0.55760|0.55760	7.210000|7.210000	0.77924|0.77924	2.484000|2.484000	0.83849|0.83849	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			5	12	0	0	0	1	0	5	12				
DGAT1	8694	broad.mit.edu	37	8	145541355	145541355	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:145541355C>A	ENST00000332324.4	-	11	1188	c.915G>T	c.(913-915)caG>caT	p.Q305H	DGAT1_ENST00000527438.1_5'Flank|GS1-393G12.12_ENST00000525023.1_RNA	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	305					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TCATGGAGTTCTGGATGGTGG	0.602																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(913-915)caG>caT		diacylglycerol O-acyltransferase 1							82.0	76.0	78.0					8																	145541355		2203	4296	6499	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541355C>A	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.915G>T	8.37:g.145541355C>A	ENSP00000332258:p.Gln305His						p.Q305H	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		11	1188	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		305					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.915G>T	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791057	0.50102	.	.	ENSG00000185000	ENST00000332324	T	0.72725	-0.68	5.17	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	L	0.43152	1.355	0.80722	D	1	B	0.29212	0.237	B	0.33254	0.16	T	0.65191	-0.6228	10	0.54805	T	0.06	-9.7976	10.7321	0.46102	0.0:0.9068:0.0:0.0932	.	305	O75907	DGAT1_HUMAN	H	305	ENSP00000332258:Q305H	ENSP00000332258:Q305H	Q	-	3	2	DGAT1	145512163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.279000	0.33191	2.418000	0.82041	0.555000	0.69702	CAG		0.602	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		37	68	1	0	2.32173e-10	1	2.84673e-10	37	68				
MYH10	4628	broad.mit.edu	37	17	8508286	8508286	+	Silent	SNP	G	G	T	rs375038020		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:8508286G>T	ENST00000269243.4	-	3	498	c.360C>A	c.(358-360)ctC>ctA	p.L120L	MYH10_ENST00000360416.3_Silent_p.L120L|MYH10_ENST00000396239.1_Silent_p.L120L|MYH10_ENST00000379980.4_Silent_p.L120L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	120	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTACACAGAAGAGTCCAGAAT	0.343																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(358-360)ctC>ctA		myosin, heavy chain 10, non-muscle		G		0,4400		0,0,2200	35.0	38.0	37.0		360	2.9	1.0	17		37	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous	MYH10	NM_005964.1		0,2,6491	TT,TG,GG		0.0233,0.0,0.0154		120/1977	8508286	2,12984	2200	4293	6493	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8508286G>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.360C>A	17.37:g.8508286G>T						MYH10_ENST00000396239.1_Silent_p.L120L|MYH10_ENST00000379980.4_Silent_p.L120L|MYH10_ENST00000269243.4_Silent_p.L120L	p.L120L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			3	498	-			120			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.360C>A	CCDS11144.1																																																																																				0.343	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			10	23	1	0	0.000442599	1	0.00046913	10	23				
ARHGEF11	9826	broad.mit.edu	37	1	156928929	156928929	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156928929G>A	ENST00000361409.2	-	15	1910	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R430C	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	390	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCCGCAGGCGCGAGTCTGTA	0.572																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(1288-1290)Cgc>Tgc		Rho guanine nucleotide exchange factor (GEF) 11							63.0	55.0	58.0					1																	156928929		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156928929G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1168C>T	1.37:g.156928929G>A	ENSP00000354644:p.Arg390Cys					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R390C	p.R430C	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			16	2327	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		390			RGSL.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.1288C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204379	0.38905	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.84730	-1.89;-1.89	4.69	3.76	0.43208	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.115307	0.36932	N	0.002332	D	0.87346	0.6154	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.68621	0.959;0.84	D	0.88777	0.3268	10	0.87932	D	0	-13.608	12.1815	0.54214	0.0:0.0:0.8288:0.1712	.	390;430	O15085;O15085-2	ARHGB_HUMAN;.	C	430;390	ENSP00000357177:R430C;ENSP00000354644:R390C	ENSP00000354644:R390C	R	-	1	0	ARHGEF11	155195553	1.000000	0.71417	0.707000	0.30419	0.003000	0.03518	5.606000	0.67641	1.176000	0.42840	-0.500000	0.04577	CGC		0.572	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		11	13	0	0	0	1	0	11	13				
PABPC5	140886	broad.mit.edu	37	X	90690889	90690889	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:90690889G>T	ENST00000312600.3	+	2	527	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	105						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAAGTCTGGAGTGGGAAATAT	0.413																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(313-315)Gtg>Ttg		poly(A) binding protein, cytoplasmic 5							60.0	56.0	57.0					X																	90690889		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690889G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.313G>T	X.37:g.90690889G>T	ENSP00000308012:p.Val105Leu					PABPC5_ENST00000373105.1_Intron	p.V105L	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	527	+			105					A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.313G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060054	0.36373	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.05925	3.37	4.43	3.57	0.40892	Nucleotide-binding, alpha-beta plait (1);	0.116152	0.64402	D	0.000020	T	0.08268	0.0206	M	0.72624	2.21	0.51233	D	0.999916	B	0.30179	0.271	B	0.17433	0.018	T	0.07947	-1.0746	10	0.49607	T	0.09	.	9.6499	0.39890	0.1051:0.0:0.8949:0.0	.	105	Q96DU9	PABP5_HUMAN	L	105;73	ENSP00000308012:V105L	ENSP00000308012:V105L	V	+	1	0	PABPC5	90577545	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.423000	0.80229	1.220000	0.43490	0.600000	0.82982	GTG		0.413	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		7	75	1	0	0.0293803	1	0.0299069	7	75				
IQGAP2	10788	broad.mit.edu	37	5	75896636	75896636	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:75896636G>T	ENST00000274364.6	+	11	1368		c.e11-1		IQGAP2_ENST00000379730.3_Splice_Site	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2						negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTTTCCAACAGAACTACTTGG	0.433																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.e11-1		IQ motif containing GTPase activating protein 2							135.0	120.0	125.0					5																	75896636		2203	4300	6503	SO:0001630	splice_region_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75896636G>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1072-1G>T	5.37:g.75896636G>T						IQGAP2_ENST00000379730.3_Splice_Site		NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	11	1368	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)						A8K4V1|B7Z8A4|J3KR91	Splice_Site	SNP	ENST00000274364.6	37		CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280788	0.80692	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8621	0.96787	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQGAP2	75932392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.739000	0.91574	2.770000	0.95276	0.563000	0.77884	.		0.433	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	Intron	12	45	1	0	3.07112e-06	1	3.42433e-06	12	45				
PEX19	5824	broad.mit.edu	37	1	160252876	160252876	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160252876C>A	ENST00000368072.5	-	3	225	c.204G>T	c.(202-204)gaG>gaT	p.E68D	DCAF8_ENST00000556710.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR|PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	68	Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAAAACTTCTCTTGGGAAG	0.542																																						ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(202-204)gaG>gaT		peroxisomal biogenesis factor 19							73.0	77.0	76.0					1																	160252876		2203	4300	6503	SO:0001583	missense	5824							g.chr1:160252876C>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.204G>T	1.37:g.160252876C>A	ENSP00000357051:p.Glu68Asp					DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR	p.E68D	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			BRCA - Breast invasive adenocarcinoma(70;0.111)		3	225	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.204G>T	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908460	0.72868	.	.	ENSG00000162735	ENST00000368072;ENST00000429425;ENST00000392220	.	.	.	4.65	4.65	0.58169	.	0.247890	0.42682	D	0.000678	T	0.23094	0.0558	N	0.17631	0.505	0.80722	D	1	D	0.56287	0.975	P	0.48704	0.587	T	0.01762	-1.1279	9	0.17369	T	0.5	-20.0565	10.8344	0.46679	0.0:0.9094:0.0:0.0906	.	68	P40855	PEX19_HUMAN	D	68;48;48	.	ENSP00000357051:E68D	E	-	3	2	PEX19	158519500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.339000	0.33885	2.519000	0.84933	0.557000	0.71058	GAG		0.542	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		25	45	1	0	1.37878e-21	1	1.90629e-21	25	45				
GPC4	2239	broad.mit.edu	37	X	132437257	132437257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:132437257G>A	ENST00000370828.3	-	8	1929	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	GPC4_ENST00000535467.1_Nonsense_Mutation_p.R399*	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	469					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTCATCACTCGAAGAGCCATG	0.453																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1405-1407)Cga>Tga		glypican 4							251.0	193.0	213.0					X																	132437257		2203	4300	6503	SO:0001587	stop_gained	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132437257G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1405C>T	X.37:g.132437257G>A	ENSP00000359864:p.Arg469*					GPC4_ENST00000535467.1_Nonsense_Mutation_p.R399*	p.R469*	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			8	1929	-	Acute lymphoblastic leukemia(192;0.000127)		469					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Nonsense_Mutation	SNP	ENST00000370828.3	37	c.1405C>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	g	41	8.819722	0.98966	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	.	.	.	5.62	3.84	0.44239	.	0.257416	0.39475	N	0.001346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7113	8.2546	0.31748	0.076:0.0:0.6473:0.2767	.	.	.	.	X	469;463;399	.	ENSP00000359864:R469X	R	-	1	2	GPC4	132264923	1.000000	0.71417	0.972000	0.41901	0.953000	0.61014	4.363000	0.59473	0.531000	0.28639	0.597000	0.82753	CGA		0.453	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		35	80	0	0	0	1	0	35	80				
BCLAF1	9774	broad.mit.edu	37	6	136599082	136599082	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136599082C>A	ENST00000531224.1	-	4	1189	c.937G>T	c.(937-939)Gat>Tat	p.D313Y	BCLAF1_ENST00000527759.1_Missense_Mutation_p.D311Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D311Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D311Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	313					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTAGACTCATCTCTTGGAGCA	0.428																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(937-939)Gat>Tat		BCL2-associated transcription factor 1							89.0	87.0	88.0					6																	136599082		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599082C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.937G>T	6.37:g.136599082C>A	ENSP00000435210:p.Asp313Tyr					BCLAF1_ENST00000353331.4_Missense_Mutation_p.D311Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D311Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D311Y	p.D313Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1189	-	Colorectal(23;0.24)		313					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.937G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169958	0.21621	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46	5.82	4.96	0.65561	.	0.509864	0.19927	N	0.102958	T	0.06096	0.0158	N	0.08118	0	0.80722	D	1	P;P;P;P	0.41848	0.471;0.763;0.471;0.471	B;B;B;B	0.42851	0.4;0.4;0.4;0.4	T	0.26950	-1.0088	10	0.62326	D	0.03	-3.5141	14.9191	0.70822	0.0:0.9313:0.0:0.0687	.	311;311;313;313	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	Y	313;311;313;313;311;311;313	ENSP00000435210:D313Y;ENSP00000229446:D311Y;ENSP00000435441:D313Y;ENSP00000436501:D313Y;ENSP00000434826:D311Y;ENSP00000376159:D311Y;ENSP00000431734:D313Y	ENSP00000229446:D311Y	D	-	1	0	BCLAF1	136640775	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.613000	0.67688	1.466000	0.48025	0.650000	0.86243	GAT		0.428	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	66	1	0	2.17888e-05	1	2.39107e-05	10	66				
VPS72	6944	broad.mit.edu	37	1	151158378	151158378	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151158378C>T	ENST00000354473.4	-	2	202	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	56	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGTCCACTTCGTCCTCTGTG	0.517																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(166-168)Gaa>Aaa		vacuolar protein sorting 72 homolog (S. cerevisiae)							141.0	124.0	130.0					1																	151158378		2203	4300	6503	SO:0001583	missense	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151158378C>T	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.166G>A	1.37:g.151158378C>T	ENSP00000346464:p.Glu56Lys					VPS72_ENST00000496809.1_5'UTR	p.E56K	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	202	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		56			Asp/Glu-rich (acidic).		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	ENST00000354473.4	37	c.166G>A	CCDS59201.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371246	0.95923	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.78223	2.4	0.80722	D	1	D	0.67145	0.996	P	0.60682	0.878	T	0.66272	-0.5965	9	0.07644	T	0.81	-10.4752	18.4824	0.90817	0.0:1.0:0.0:0.0	.	56	Q15906	VPS72_HUMAN	K	56	.	ENSP00000346464:E56K	E	-	1	0	VPS72	149425002	1.000000	0.71417	0.996000	0.52242	0.640000	0.38277	7.376000	0.79658	2.691000	0.91804	0.561000	0.74099	GAA		0.517	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		17	57	0	0	0	1	0	17	57				
ATP2C1	27032	broad.mit.edu	37	3	130698227	130698227	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130698227A>C	ENST00000510168.1	+	19	2255	c.1705A>C	c.(1705-1707)Att>Ctt	p.I569L	ATP2C1_ENST00000507488.2_Missense_Mutation_p.I553L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I569L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I564L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I514L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I569L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I603L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I569L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I553L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	569					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AATAAAAATGATTACTGGAGA	0.383									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1705-1707)Att>Ctt		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						107.0	104.0	105.0					3																	130698227		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130698227A>C	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1705A>C	3.37:g.130698227A>C	ENSP00000427461:p.Ile569Leu					ATP2C1_ENST00000428331.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I569L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I553L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I564L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I603L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I514L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I569L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I569L	p.I569L			P98194	AT2C1_HUMAN			19	2255	+			569					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1705A>C	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.07|15.07	2.723801|2.723801	0.48728|0.48728	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.95342|.	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68|.	5.68|5.68	4.33|4.33	0.51752|0.51752	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);|.	0.103098|.	0.64402|.	D|.	0.000003|.	T|.	0.54695|.	0.1874|.	L|L	0.39085|0.39085	1.19|1.19	0.51233|0.51233	D|D	0.999915|0.999915	B;B;B;B;B;B;B|.	0.29115|.	0.043;0.053;0.107;0.017;0.233;0.004;0.006|.	B;B;B;B;B;B;B|.	0.40228|.	0.026;0.044;0.242;0.026;0.323;0.026;0.027|.	T|.	0.50906|.	-0.8772|.	10|.	0.62326|.	D|.	0.03|.	.|.	11.5512|11.5512	0.50721|0.50721	0.8753:0.0:0.1247:0.0|0.8753:0.0:0.1247:0.0	.|.	603;564;603;569;603;569;569|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	L|C	553;514;553;603;564;569;569;553;553;569;569;569;569;568|522	ENSP00000423774:I553L;ENSP00000425320:I514L;ENSP00000421326:I553L;ENSP00000376914:I603L;ENSP00000432956:I564L;ENSP00000427461:I569L;ENSP00000424783:I569L;ENSP00000423330:I553L;ENSP00000422872:I553L;ENSP00000329664:I569L;ENSP00000395809:I569L;ENSP00000352665:I569L;ENSP00000402677:I569L|.	ENSP00000329664:I569L|.	I|X	+|+	1|3	0|0	ATP2C1|ATP2C1	132180917|132180917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.587000|1.587000	0.36622|0.36622	2.160000|2.160000	0.67779|0.67779	0.533000|0.533000	0.62120|0.62120	ATT|TGA		0.383	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		16	30	0	0	0	1	0	16	30				
KLHL4	56062	broad.mit.edu	37	X	86924355	86924355	+	3'UTR	SNP	C	C	A	rs12013438		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:86924355C>A	ENST00000373119.4	+	0	5123				KLHL4_ENST00000373114.4_Missense_Mutation_p.F708L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACAAAACTTCTATACCACAC	0.438																																						ENST00000373114.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(2122-2124)ttC>ttA		kelch-like family member 4							118.0	94.0	102.0					X																	86924355		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86924355C>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.*2821C>A	X.37:g.86924355C>A						KLHL4_ENST00000373119.4_3'UTR	p.F708L	NM_057162.2	NP_476503.1	Q9C0H6	KLHL4_HUMAN			11	2204	+			0					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.2124C>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870762	0.17322	.	.	ENSG00000102271	ENST00000373114	T	0.73047	-0.71	1.9	-0.0988	0.13627	.	0.649006	0.13946	N	0.351835	T	0.46347	0.1388	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.25506	0.061	T	0.26018	-1.0115	9	0.13470	T	0.59	.	3.5017	0.07676	0.2875:0.432:0.2804:0.0	.	708	Q9C0H6-2	.	L	708	ENSP00000362206:F708L	ENSP00000362206:F708L	F	+	3	2	KLHL4	86811011	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	-0.107000	0.10873	-0.129000	0.11620	0.190000	0.17370	TTC		0.438	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			21	32	1	0	7.45023e-12	1	9.31775e-12	21	32				
TAF3	83860	broad.mit.edu	37	10	8007253	8007253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:8007253G>T	ENST00000344293.5	+	3	1986	c.1780G>T	c.(1780-1782)Gaa>Taa	p.E594*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	594	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TAAAATCAAAGAATTTGAAGA	0.373																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1780-1782)Gaa>Taa		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							77.0	76.0	76.0					10																	8007253		1815	4075	5890	SO:0001587	stop_gained	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007253G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1780G>T	10.37:g.8007253G>T	ENSP00000340271:p.Glu594*						p.E594*	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1986	+			594			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	ENST00000344293.5	37	c.1780G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	37	6.207763	0.97376	.	.	ENSG00000165632	ENST00000344293	.	.	.	5.82	5.82	0.92795	.	0.165226	0.41097	D	0.000951	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-33.4605	19.7093	0.96085	0.0:0.0:1.0:0.0	.	.	.	.	X	594	.	ENSP00000340271:E594X	E	+	1	0	TAF3	8047259	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	7.092000	0.76930	2.764000	0.94973	0.650000	0.86243	GAA		0.373	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		31	41	1	0	6.00712e-18	1	8.10414e-18	31	41				
KALRN	8997	broad.mit.edu	37	3	124141773	124141773	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124141773A>C	ENST00000240874.3	+	15	2808	c.2651A>C	c.(2650-2652)aAg>aCg	p.K884T	KALRN_ENST00000360013.3_Missense_Mutation_p.K884T|KALRN_ENST00000460856.1_Missense_Mutation_p.K884T	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	884					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGACTCATAAGCGGCTAGAG	0.502																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(2650-2652)aAg>aCg		kalirin, RhoGEF kinase							103.0	96.0	98.0					3																	124141773		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124141773A>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2651A>C	3.37:g.124141773A>C	ENSP00000240874:p.Lys884Thr					KALRN_ENST00000240874.3_Missense_Mutation_p.K884T|KALRN_ENST00000460856.1_Missense_Mutation_p.K884T	p.K884T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			15	2778	+			884					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.2651A>C	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.16|11.16	1.556615|1.556615	0.27827|0.27827	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.34859|.	1.34;1.34;1.34|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.300709|.	0.31495|.	N|.	0.007556|.	T|T	0.48857|0.48857	0.1523|0.1523	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.11235|.	0.0;0.0;0.004;0.0|.	B;B;B;B|.	0.08055|.	0.002;0.0;0.003;0.003|.	T|T	0.44559|0.44559	-0.9320|-0.9320	10|5	0.15066|.	T|.	0.55|.	.|.	15.0843|15.0843	0.72138|0.72138	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	884;230;884;884|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	T|R	884|862	ENSP00000418611:K884T;ENSP00000240874:K884T;ENSP00000353109:K884T|.	ENSP00000240874:K884T|.	K|S	+|+	2|1	0|0	KALRN|KALRN	125624463|125624463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	5.800000|5.800000	0.69108|0.69108	2.204000|2.204000	0.70986|0.70986	0.529000|0.529000	0.55759|0.55759	AAG|AGC		0.502	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		7	78	0	0	0	1	0	7	78				
AHNAK2	113146	broad.mit.edu	37	14	105406167	105406167	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105406167T>C	ENST00000333244.5	-	7	15740	c.15621A>G	c.(15619-15621)agA>agG	p.R5207R	AHNAK2_ENST00000557457.1_Silent_p.R205R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5207						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)			CAGCCCCGCCTCTGTCCCTGA	0.552																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(15619-15621)agA>agG		AHNAK nucleoprotein 2							210.0	227.0	222.0					14																	105406167		1965	4137	6102	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105406167T>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.15621A>G	14.37:g.105406167T>C						AHNAK2_ENST00000557457.1_Silent_p.R205R	p.R5207R	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	15740	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5207					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.15621A>G	CCDS45177.1																																																																																				0.552	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		140	150	0	0	0	1	0	140	150				
MMP9	4318	broad.mit.edu	37	20	44639584	44639584	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44639584G>A	ENST00000372330.3	+	4	563	c.544G>A	c.(544-546)Gac>Aac	p.D182N	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	182					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GTATCCCTTCGACGGGAAGGA	0.622																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(544-546)Gac>Aac		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						83.0	72.0	76.0					20																	44639584		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639584G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.544G>A	20.37:g.44639584G>A	ENSP00000361405:p.Asp182Asn						p.D182N	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			4	563	+		Myeloproliferative disorder(115;0.0122)	182					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.544G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667683	0.96745	.	.	ENSG00000100985	ENST00000372330	T	0.37752	1.18	4.62	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82528	-0.0412	10	0.87932	D	0	.	16.9809	0.86327	0.0:0.0:1.0:0.0	.	182	P14780	MMP9_HUMAN	N	182	ENSP00000361405:D182N	ENSP00000361405:D182N	D	+	1	0	MMP9	44072991	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.553000	0.86117	0.650000	0.86243	GAC		0.622	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			33	55	0	0	0	1	0	33	55				
KCNA10	3744	broad.mit.edu	37	1	111060320	111060320	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111060320G>T	ENST00000369771.2	-	1	1477	c.1090C>A	c.(1090-1092)Ctc>Atc	p.L364I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	364					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GTTTGCCCGAGGATCTGCAGC	0.557																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(1090-1092)Ctc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 10							102.0	98.0	99.0					1																	111060320		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060320G>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1090C>A	1.37:g.111060320G>T	ENSP00000358786:p.Leu364Ile						p.L364I	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1477	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	364						Missense_Mutation	SNP	ENST00000369771.2	37	c.1090C>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464843	0.43839	.	.	ENSG00000143105	ENST00000369771	D	0.99070	-5.39	5.63	3.77	0.43336	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99061	0.9678	M	0.85462	2.755	0.43499	D	0.995745	D	0.64830	0.994	D	0.83275	0.996	D	0.99758	1.1020	10	0.87932	D	0	.	11.1171	0.48266	0.1511:0.0:0.8489:0.0	.	364	Q16322	KCA10_HUMAN	I	364	ENSP00000358786:L364I	ENSP00000358786:L364I	L	-	1	0	KCNA10	110861843	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	1.823000	0.39062	0.759000	0.33084	0.558000	0.71614	CTC		0.557	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		53	91	1	0	2.0833e-19	1	2.83573e-19	53	91				
CD80	941	broad.mit.edu	37	3	119256042	119256042	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119256042G>T	ENST00000264246.3	-	4	1004	c.642C>A	c.(640-642)ttC>ttA	p.F214L	CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.F214L|CD80_ENST00000478182.1_Missense_Mutation_p.F214L	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	214	Ig-like C2-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	TGAGACACATGAAGCTGTGGT	0.388																																					Melanoma(132;135 1764 1806 5833 14593)	ENST00000264246.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(640-642)ttC>ttA		CD80 molecule	Abatacept(DB01281)						226.0	202.0	210.0					3																	119256042		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119256042G>T		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.642C>A	3.37:g.119256042G>T	ENSP00000264246:p.Phe214Leu					CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.F214L|CD80_ENST00000478182.1_Missense_Mutation_p.F214L	p.F214L	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN			4	1004	-			214			Ig-like C2-type.		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.642C>A	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342977	0.41498	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669	T;T;T	0.15952	2.38;2.38;2.38	5.19	-4.51	0.03483	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.250695	0.28317	N	0.015789	T	0.14743	0.0356	M	0.67953	2.075	0.19775	N	0.99995	P;P	0.43352	0.67;0.804	B;B	0.40982	0.205;0.345	T	0.10543	-1.0625	10	0.54805	T	0.06	-14.7647	7.017	0.24892	0.5699:0.0:0.3069:0.1232	.	214;214	Q5DTB0;P33681	.;CD80_HUMAN	L	214	ENSP00000264246:F214L;ENSP00000418364:F214L;ENSP00000373165:F214L	ENSP00000264246:F214L	F	-	3	2	CD80	120738732	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.006000	0.01459	-0.489000	0.06716	-0.128000	0.14901	TTC		0.388	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		31	66	1	0	2.61193e-14	1	3.39424e-14	31	66				
FAM92B	339145	broad.mit.edu	37	16	85135934	85135934	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85135934C>A	ENST00000539556.1	-	7	693		c.e7-1			NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AAAAAAATTTCTGTGGGGAGA	0.517																																						ENST00000539556.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.e7-1		family with sequence similarity 92, member B							50.0	49.0	49.0					16																	85135934		2198	4300	6498	SO:0001630	splice_region_variant	339145							g.chr16:85135934C>A		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.538-1G>T	16.37:g.85135934C>A								NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN			7	693	-									Splice_Site	SNP	ENST00000539556.1	37		CCDS32500.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003082	0.54254	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4988	0.87726	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM92B	83693435	1.000000	0.71417	0.570000	0.28473	0.025000	0.11179	6.493000	0.73658	2.745000	0.94114	0.555000	0.69702	.		0.517	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491	Intron	12	35	1	0	6.40141e-05	1	6.95424e-05	12	35				
SDK2	54549	broad.mit.edu	37	17	71334925	71334925	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:71334925G>A	ENST00000392650.3	-	45	6320	c.6320C>T	c.(6319-6321)tCg>tTg	p.S2107L	SDK2_ENST00000388726.3_Missense_Mutation_p.S2088L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2107					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTCACCCGAGTCGCTCTC	0.627																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6319-6321)tCg>tTg		sidekick cell adhesion molecule 2							159.0	124.0	136.0					17																	71334925		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71334925G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6320C>T	17.37:g.71334925G>A	ENSP00000376421:p.Ser2107Leu					SDK2_ENST00000388726.3_Missense_Mutation_p.S2088L|SDK2_ENST00000410094.1_5'UTR	p.S2107L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			45	6320	-			2107					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.6320C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763818	0.69878	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.61392	0.11;0.14;1.38	4.71	4.71	0.59529	.	0.076114	0.56097	D	0.000036	T	0.49558	0.1564	L	0.29908	0.895	0.49299	D	0.999773	B;B	0.26635	0.155;0.145	B;B	0.28638	0.047;0.092	T	0.52230	-0.8603	10	0.59425	D	0.04	.	17.3033	0.87188	0.0:0.0:1.0:0.0	.	2107;2088	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	L	1731;2107;2088;1264;2107;448	ENSP00000376421:S2107L;ENSP00000373378:S2088L;ENSP00000407098:S1264L	ENSP00000324967:S2107L	S	-	2	0	SDK2	68846520	1.000000	0.71417	0.897000	0.35233	0.827000	0.46813	6.260000	0.72502	2.168000	0.68352	0.650000	0.86243	TCG		0.627	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		15	23	0	0	0	1	0	15	23				
ZNF564	163050	broad.mit.edu	37	19	12638272	12638272	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12638272C>A	ENST00000339282.7	-	4	846	c.650G>T	c.(649-651)aGa>aTa	p.R217I	CTD-2192J16.20_ENST00000593682.1_3'UTR|CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R217I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGTGTGAGTTCTTTCATGTAT	0.403																																						ENST00000339282.7																			1	Substitution - Missense(1)	p.R217I(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(649-651)aGa>aTa		zinc finger protein 564							83.0	92.0	89.0					19																	12638272		2198	4297	6495	SO:0001583	missense	163050							g.chr19:12638272C>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.650G>T	19.37:g.12638272C>A	ENSP00000340004:p.Arg217Ile					ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	p.R217I	NM_144976.3	NP_659413.1					4	846	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.650G>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845086	0.51164	.	.	ENSG00000249709	ENST00000339282	T	0.24908	1.83	1.57	-3.14	0.05250	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39784	0.1091	M	0.85630	2.765	0.09310	N	0.999996	D	0.67145	0.996	P	0.60286	0.872	T	0.26503	-1.0101	9	0.51188	T	0.08	.	0.7735	0.01028	0.1622:0.1849:0.31:0.343	.	217	Q8TBZ8	ZN564_HUMAN	I	217	ENSP00000340004:R217I	ENSP00000340004:R217I	R	-	2	0	ZNF564	12499272	0.000000	0.05858	0.000000	0.03702	0.839000	0.47603	-0.297000	0.08276	-1.189000	0.02702	0.549000	0.68633	AGA		0.403	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		47	84	1	0	1.8453e-21	1	2.54941e-21	47	84				
CKAP5	9793	broad.mit.edu	37	11	46799031	46799031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:46799031T>G	ENST00000529230.1	-	23	2866	c.2820A>C	c.(2818-2820)aaA>aaC	p.K940N	CKAP5_ENST00000415402.1_Missense_Mutation_p.K940N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K940N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K940N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	940					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGCCTAAATTTTTTACATGTT	0.428																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2818-2820)aaA>aaC		cytoskeleton associated protein 5							135.0	125.0	128.0					11																	46799031		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46799031T>G		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2820A>C	11.37:g.46799031T>G	ENSP00000432768:p.Lys940Asn					CKAP5_ENST00000354558.3_Missense_Mutation_p.K940N|CKAP5_ENST00000415402.1_Missense_Mutation_p.K940N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K940N	p.K940N			Q14008	CKAP5_HUMAN			23	2866	-			940					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.2820A>C	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795604	0.70452	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.39	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	L	0.61218	1.895	0.51482	D	0.999927	D;D;D	0.63880	0.993;0.99;0.992	P;P;P	0.61070	0.848;0.814;0.883	T	0.51156	-0.8741	10	0.37606	T	0.19	-5.6457	8.4172	0.32678	0.0:0.7685:0.0:0.2315	.	940;940;940	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	N	940	ENSP00000432768:K940N;ENSP00000395302:K940N;ENSP00000310227:K940N;ENSP00000346566:K940N	ENSP00000310227:K940N	K	-	3	2	CKAP5	46755607	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.171000	0.42453	1.256000	0.44068	-0.366000	0.07423	AAA		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		18	27	0	0	0	1	0	18	27				
FGB	2244	broad.mit.edu	37	4	155490690	155490690	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155490690A>C	ENST00000302068.4	+	7	1046	c.983A>C	c.(982-984)aAa>aCa	p.K328T	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.K109T	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	328	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|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)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGAAATGATAAAATTAGCCAG	0.358																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(982-984)aAa>aCa		fibrinogen beta chain	Sucralfate(DB00364)						61.0	65.0	64.0					4																	155490690		2202	4300	6502	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490690A>C		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.983A>C	4.37:g.155490690A>C	ENSP00000306099:p.Lys328Thr					FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.K109T	p.K328T	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1046	+	all_hematologic(180;0.215)	Renal(120;0.0458)	328			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.983A>C	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566687	0.45694	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.79033	-1.23;-1.23	5.53	4.35	0.52113	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.095440	0.64402	D	0.000001	T	0.80793	0.4691	L	0.49455	1.56	0.47308	D	0.999388	D;B	0.57571	0.98;0.08	P;B	0.56960	0.81;0.115	T	0.80564	-0.1326	10	0.52906	T	0.07	.	11.6067	0.51037	0.9301:0.0:0.0699:0.0	.	311;328	B4E1D3;P02675	.;FIBB_HUMAN	T	328;311;109	ENSP00000306099:K328T;ENSP00000426757:K109T	ENSP00000306099:K328T	K	+	2	0	FGB	155710140	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.065000	0.49994	1.037000	0.40024	0.533000	0.62120	AAA		0.358	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		9	67	0	0	0	1	0	9	67				
ZIM3	114026	broad.mit.edu	37	19	57647266	57647266	+	Missense_Mutation	SNP	C	C	T	rs375178643		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57647266C>T	ENST00000269834.1	-	5	824	c.439G>A	c.(439-441)Gat>Aat	p.D147N	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCATTATCATCGTGAGAATTA	0.353																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(439-441)Gat>Aat		zinc finger, imprinted 3		C	ASN/ASP	0,4406		0,0,2203	181.0	176.0	178.0		439	-1.6	0.0	19		178	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZIM3	NM_052882.1	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	147/473	57647266	1,13005	2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57647266C>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.439G>A	19.37:g.57647266C>T	ENSP00000269834:p.Asp147Asn						p.D147N	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	824	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	147					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.439G>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	1.516	-0.548240	0.04024	0.0	1.16E-4	ENSG00000141946	ENST00000269834	T	0.04406	3.63	2.08	-1.57	0.08506	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43032	-0.9416	9	0.51188	T	0.08	.	9.3693	0.38244	0.0:0.6922:0.0:0.3078	.	147	Q96PE6	ZIM3_HUMAN	N	147	ENSP00000269834:D147N	ENSP00000269834:D147N	D	-	1	0	ZIM3	62339078	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.582000	0.02117	-0.500000	0.06614	-0.752000	0.03492	GAT		0.353	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			41	87	0	0	0	1	0	41	87				
DNAH9	1770	broad.mit.edu	37	17	11573031	11573031	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11573031C>A	ENST00000262442.4	+	17	3341	c.3273C>A	c.(3271-3273)ccC>ccA	p.P1091P	DNAH9_ENST00000454412.2_Silent_p.P1091P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1091	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATATTCGACCCTTTAAGGCAT	0.443																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3271-3273)ccC>ccA		dynein, axonemal, heavy chain 9							132.0	136.0	135.0					17																	11573031		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11573031C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3273C>A	17.37:g.11573031C>A						DNAH9_ENST00000454412.2_Silent_p.P1091P	p.P1091P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3341	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1091			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.3273C>A	CCDS11160.1																																																																																				0.443	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		18	119	1	0	1.45105e-14	1	1.8931e-14	18	119				
NOL11	25926	broad.mit.edu	37	17	65722653	65722653	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:65722653T>A	ENST00000253247.4	+	7	857	c.742T>A	c.(742-744)Tca>Aca	p.S248T	NOL11_ENST00000535137.1_Missense_Mutation_p.S66T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	248					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTAGTTAAATCACTGCTGCT	0.458																																						ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(742-744)Tca>Aca		nucleolar protein 11							95.0	81.0	86.0					17																	65722653		2203	4300	6503	SO:0001583	missense	25926					nucleolus		g.chr17:65722653T>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.742T>A	17.37:g.65722653T>A	ENSP00000253247:p.Ser248Thr					NOL11_ENST00000535137.1_Missense_Mutation_p.S66T	p.S248T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	857	+	all_cancers(12;1.54e-10)		248					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.742T>A	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	T	4.728	0.135458	0.09032	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.52057	0.68	5.55	3.16	0.36331	.	0.352424	0.29631	N	0.011615	T	0.39517	0.1081	L	0.57536	1.79	0.20975	N	0.999819	B	0.21905	0.062	B	0.19391	0.025	T	0.28235	-1.0050	10	0.37606	T	0.19	-10.2132	6.4507	0.21902	0.1514:0.0:0.1689:0.6797	.	248	Q9H8H0	NOL11_HUMAN	T	248;66	ENSP00000253247:S248T	ENSP00000253247:S248T	S	+	1	0	NOL11	63153115	0.514000	0.26202	0.168000	0.22838	0.031000	0.12232	1.486000	0.35530	0.922000	0.37019	0.533000	0.62120	TCA		0.458	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		16	37	0	0	0	1	0	16	37				
PCDH20	64881	broad.mit.edu	37	13	61986041	61986041	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61986041G>T	ENST00000409186.1	-	5	4296	c.2191C>A	c.(2191-2193)Ctc>Atc	p.L731I	PCDH20_ENST00000409204.4_Missense_Mutation_p.L731I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	731	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTAGAAGGAGAATTGTGATT	0.463																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2191-2193)Ctc>Atc		protocadherin 20							112.0	117.0	116.0					13																	61986041		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986041G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2191C>A	13.37:g.61986041G>T	ENSP00000386653:p.Leu731Ile					PCDH20_ENST00000409204.4_Missense_Mutation_p.L731I	p.L731I			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	4296	-		Breast(118;0.195)|Prostate(109;0.229)	704			Cadherin 6.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2191C>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762237	0.31228	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01745	4.66;4.66	5.94	5.1	0.69264	.	0.218646	0.32258	N	0.006356	T	0.02767	0.0083	N	0.12569	0.235	0.54753	D	0.999984	D	0.61080	0.989	P	0.60117	0.869	T	0.71774	-0.4491	10	0.21540	T	0.41	.	11.1846	0.48648	0.1397:0.0:0.8603:0.0	.	731	A8K1K9	.	I	731;731;477	ENSP00000387250:L731I;ENSP00000386653:L731I	ENSP00000351500:L477I	L	-	1	0	PCDH20	60884042	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.710000	0.74670	1.526000	0.49068	-0.262000	0.10625	CTC		0.463	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		50	84	1	0	4.01344e-20	1	5.48555e-20	50	84				
KIF5C	3800	broad.mit.edu	37	2	149793854	149793854	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149793854C>A	ENST00000435030.1	+	4	716	c.348C>A	c.(346-348)atC>atA	p.I116I	KIF5C_ENST00000414838.2_Silent_p.I21I			O60282	KIF5C_HUMAN	kinesin family member 5C	116	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.I116I(1)|p.I19I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CCCATGATATCTTTGACCATA	0.493																																						ENST00000435030.1																			2	Substitution - coding silent(2)	p.I116I(1)|p.I19I(1)	large_intestine(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(346-348)atC>atA		kinesin family member 5C							49.0	47.0	48.0					2																	149793854		1943	4193	6136	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149793854C>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.348C>A	2.37:g.149793854C>A						KIF5C_ENST00000414838.2_Silent_p.I21I	p.I116I			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	4	716	+			116			Kinesin-motor.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.348C>A																																																																																					0.493	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		3	6	1	0	0.115264	1	0.116507	3	6				
RRP1B	23076	broad.mit.edu	37	21	45107839	45107839	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45107839A>G	ENST00000340648.4	+	13	1701	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	528					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GGAAACTTGGAGTTGTGCCCG	0.632																																						ENST00000340648.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(1582-1584)ggA>ggG		ribosomal RNA processing 1B							42.0	40.0	41.0					21																	45107839		2203	4299	6502	SO:0001819	synonymous_variant	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107839A>G	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1584A>G	21.37:g.45107839A>G							p.G528G	NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	13	1701	+			528					Q8TBZ4	Silent	SNP	ENST00000340648.4	37	c.1584A>G	CCDS33577.1																																																																																				0.632	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		42	49	0	0	0	1	0	42	49				
ERAP2	64167	broad.mit.edu	37	5	96235878	96235878	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96235878G>T	ENST00000437043.3	+	10	2268	c.1557G>T	c.(1555-1557)aaG>aaT	p.K519N	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Missense_Mutation_p.K474N	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	519					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CGGATCCCAAGATGACAAGTA	0.403																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1555-1557)aaG>aaT		endoplasmic reticulum aminopeptidase 2							223.0	206.0	212.0					5																	96235878		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96235878G>T	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1557G>T	5.37:g.96235878G>T	ENSP00000400376:p.Lys519Asn					ERAP2_ENST00000379904.4_Missense_Mutation_p.K474N|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron	p.K519N	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	10	2268	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	519					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.1557G>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732146	0.30684	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904	T;T;T;T	0.03152	4.97;4.6;4.03;4.97	3.5	2.63	0.31362	.	2.114170	0.02063	N	0.050930	T	0.04907	0.0132	N	0.22421	0.69	0.09310	N	0.999995	B;B	0.23377	0.069;0.084	B;B	0.33960	0.173;0.084	T	0.40459	-0.9562	10	0.39692	T	0.17	.	6.6867	0.23148	0.129:0.0:0.871:0.0	.	474;519	Q6P179-3;Q6P179	.;ERAP2_HUMAN	N	519;519;519;474	ENSP00000400376:K519N;ENSP00000421175:K519N;ENSP00000421849:K519N;ENSP00000369235:K474N	ENSP00000369235:K474N	K	+	3	2	ERAP2	96261634	0.686000	0.27661	0.013000	0.15412	0.968000	0.65278	1.349000	0.33998	1.043000	0.40175	0.563000	0.77884	AAG		0.403	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		27	62	1	0	2.36697e-06	1	2.64971e-06	27	62				
HIVEP2	3097	broad.mit.edu	37	6	143081489	143081489	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:143081489C>T	ENST00000367604.1	-	8	6575	c.5936G>A	c.(5935-5937)cGa>cAa	p.R1979Q	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R1979Q|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1979Q			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1979					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1979L(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGAGTAACTCGAATACTTGG	0.473																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			1	Substitution - Missense(1)	p.R1979L(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5935-5937)cGa>cAa		human immunodeficiency virus type I enhancer binding protein 2							198.0	177.0	184.0					6																	143081489		1898	4123	6021	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081489C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5936G>A	6.37:g.143081489C>T	ENSP00000356576:p.Arg1979Gln					HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1979Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1979Q	p.R1979Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6678	-			1979					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5936G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	3.356	-0.131563	0.06753	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02015	4.5;4.5;4.5	6.05	4.9	0.64082	.	0.155974	0.64402	N	0.000017	T	0.00300	0.0009	N	0.01352	-0.895	0.28815	N	0.898007	B	0.02656	0.0	B	0.01281	0.0	T	0.45760	-0.9239	10	0.02654	T	1	-13.8497	11.5218	0.50555	0.0:0.0707:0.0:0.9293	.	1979	P31629	ZEP2_HUMAN	Q	1979	ENSP00000356576:R1979Q;ENSP00000356575:R1979Q;ENSP00000012134:R1979Q	ENSP00000012134:R1979Q	R	-	2	0	HIVEP2	143123182	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.914000	0.48797	1.113000	0.41760	-0.312000	0.09012	CGA		0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			42	90	0	0	0	1	0	42	90				
UBR4	23352	broad.mit.edu	37	1	19470546	19470546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:19470546G>A	ENST00000375254.3	-	55	8134	c.8107C>T	c.(8107-8109)Cga>Tga	p.R2703*	UBR4_ENST00000375267.2_Nonsense_Mutation_p.R2703*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2714*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2731*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2703					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTAGGACTCGAATTAGAGCT	0.438																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8107-8109)Cga>Tga		ubiquitin protein ligase E3 component n-recognin 4							191.0	172.0	178.0					1																	19470546		2203	4300	6503	SO:0001587	stop_gained	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19470546G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8107C>T	1.37:g.19470546G>A	ENSP00000364403:p.Arg2703*					UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2714*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2731*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.R2703*	p.R2703*			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	55	8110	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2703					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	c.8107C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	43	9.843730	0.99277	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1123	0.72368	0.0:0.0:0.85:0.15	.	.	.	.	X	2703;2703;2731;2714;346;1424	.	ENSP00000364365:R2731X	R	-	1	2	UBR4	19343133	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.272000	0.58908	2.798000	0.96311	0.655000	0.94253	CGA		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		37	69	0	0	0	1	0	37	69				
ATL1	51062	broad.mit.edu	37	14	51057742	51057742	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51057742A>C	ENST00000358385.6	+	3	607	c.366A>C	c.(364-366)ggA>ggC	p.G122G	ATL1_ENST00000357032.3_Silent_p.G122G|ATL1_ENST00000441560.2_Silent_p.G122G|ATL1_ENST00000354525.4_Silent_p.G122G	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	122	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AGACCACAGGAATTCAGATAT	0.353																																						ENST00000441560.2																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(364-366)ggA>ggC		atlastin GTPase 1							84.0	81.0	82.0					14																	51057742		2203	4300	6503	SO:0001819	synonymous_variant	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51057742A>C	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.366A>C	14.37:g.51057742A>C						ATL1_ENST00000357032.3_Silent_p.G122G|ATL1_ENST00000354525.4_Silent_p.G122G|ATL1_ENST00000358385.6_Silent_p.G122G	p.G122G	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN			4	847	+			122					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000358385.6	37	c.366A>C	CCDS9700.1																																																																																				0.353	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			16	17	0	0	0	1	0	16	17				
TTC14	151613	broad.mit.edu	37	3	180324343	180324343	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180324343G>T	ENST00000296015.4	+	9	1256	c.1124G>T	c.(1123-1125)aGa>aTa	p.R375I	TTC14_ENST00000412756.2_Missense_Mutation_p.R375I|TTC14_ENST00000382584.4_Missense_Mutation_p.R375I	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	375							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	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)			CCAACTCACAGAAATGCAAGA	0.378																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1123-1125)aGa>aTa		tetratricopeptide repeat domain 14							119.0	126.0	124.0					3																	180324343		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180324343G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1124G>T	3.37:g.180324343G>T	ENSP00000296015:p.Arg375Ile					TTC14_ENST00000296015.4_Missense_Mutation_p.R375I|TTC14_ENST00000382584.4_Missense_Mutation_p.R375I	p.R375I	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		9	1193	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		375					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1124G>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372418	0.95923	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T	0.48201	0.82;0.83	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.994;0.999;1.0	P;D;D	0.87578	0.897;0.965;0.998	T	0.70033	-0.4983	10	0.59425	D	0.04	-13.2245	20.3465	0.98790	0.0:0.0:1.0:0.0	.	375;375;375	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	I	375	ENSP00000296015:R375I;ENSP00000372027:R375I	ENSP00000296015:R375I	R	+	2	0	TTC14	181807037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.624000	0.98398	2.798000	0.96311	0.655000	0.94253	AGA		0.378	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		38	64	1	0	4.14481e-20	1	5.66236e-20	38	64				
DYSF	8291	broad.mit.edu	37	2	71825739	71825739	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71825739T>C	ENST00000258104.3	+	33	3843	c.3566T>C	c.(3565-3567)gTg>gCg	p.V1189A	DYSF_ENST00000409762.1_Missense_Mutation_p.V1206A|DYSF_ENST00000409744.1_Missense_Mutation_p.V1176A|DYSF_ENST00000409582.3_Missense_Mutation_p.V1206A|DYSF_ENST00000413539.2_Missense_Mutation_p.V1220A|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.V1207A|DYSF_ENST00000409651.1_Missense_Mutation_p.V1221A|DYSF_ENST00000394120.2_Missense_Mutation_p.V1190A|DYSF_ENST00000429174.2_Missense_Mutation_p.V1189A|DYSF_ENST00000410020.3_Missense_Mutation_p.V1207A|DYSF_ENST00000409366.1_Missense_Mutation_p.V1190A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1189	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGAAGACGGTGGTGGTGAAG	0.607																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3565-3567)gTg>gCg		dysferlin							96.0	85.0	88.0					2																	71825739		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71825739T>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3566T>C	2.37:g.71825739T>C	ENSP00000258104:p.Val1189Ala					DYSF_ENST00000409582.3_Missense_Mutation_p.V1206A|DYSF_ENST00000410041.1_Missense_Mutation_p.V1207A|DYSF_ENST00000413539.2_Missense_Mutation_p.V1220A|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.V1176A|DYSF_ENST00000429174.2_Missense_Mutation_p.V1189A|DYSF_ENST00000409762.1_Missense_Mutation_p.V1206A|DYSF_ENST00000409651.1_Missense_Mutation_p.V1221A|DYSF_ENST00000410020.3_Missense_Mutation_p.V1207A|DYSF_ENST00000409366.1_Missense_Mutation_p.V1190A|DYSF_ENST00000394120.2_Missense_Mutation_p.V1190A	p.V1189A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			33	3843	+			1189			C2 4.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3566T>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.956898	0.53293	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.66	5.66	0.87406	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	N	0.11284	0.12	0.49483	D	0.999799	P;P;B;B;B;B;B;B;P;B;B;P;B;P	0.37663	0.55;0.55;0.364;0.407;0.109;0.109;0.109;0.03;0.55;0.06;0.06;0.55;0.407;0.604	B;B;B;B;B;B;B;B;B;B;B;B;B;P	0.45712	0.358;0.358;0.287;0.358;0.209;0.149;0.209;0.062;0.358;0.062;0.062;0.358;0.412;0.491	T	0.54708	-0.8253	10	0.20519	T	0.43	-12.7839	13.8382	0.63421	0.0:0.0:0.0:1.0	.	1221;1207;1190;1176;1207;1176;1206;1175;1220;1206;1189;1175;1190;1189	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	A	1220;1206;1206;1189;1189;1221;1190;1176;1190;1207;1207	ENSP00000407046:V1220A;ENSP00000387137:V1206A;ENSP00000386547:V1206A;ENSP00000398305:V1189A;ENSP00000258104:V1189A;ENSP00000386683:V1221A;ENSP00000377678:V1190A;ENSP00000386285:V1176A;ENSP00000386512:V1190A;ENSP00000386881:V1207A;ENSP00000386617:V1207A	ENSP00000258104:V1189A	V	+	2	0	DYSF	71679247	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	3.162000	0.50755	2.160000	0.67779	0.533000	0.62120	GTG		0.607	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		13	55	0	0	0	1	0	13	55				
SLBP	7884	broad.mit.edu	37	4	1698041	1698041	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:1698041T>G	ENST00000489418.1	-	6	883	c.517A>C	c.(517-519)Aat>Cat	p.N173H	SLBP_ENST00000429429.2_Missense_Mutation_p.N134H|SLBP_ENST00000488267.1_Missense_Mutation_p.N138H|SLBP_ENST00000318386.4_Missense_Mutation_p.N180H	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	173	RNA-binding.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA transport (GO:0051028)|nuclear cell cycle DNA replication (GO:0033260)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	histone pre-mRNA DCP binding (GO:0071208)|histone pre-mRNA stem-loop binding (GO:0071207)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TTAAATTTATTAGGGGTCTTG	0.458																																						ENST00000489418.1																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(517-519)Aat>Cat		stem-loop binding protein							121.0	121.0	121.0					4																	1698041		2203	4300	6503	SO:0001583	missense	7884				DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding	g.chr4:1698041T>G	Z71188	CCDS3350.1	4p16.3	2008-02-11	2008-02-11		ENSG00000163950	ENSG00000163950			10904	protein-coding gene	gene with protein product	"""histone binding protein"""	602422	"""stem-loop (histone) binding protein"""			9049306, 1338771	Standard	NM_006527		Approved	HBP	uc003gdi.1	Q14493	OTTHUMG00000089349	ENST00000489418.1:c.517A>C	4.37:g.1698041T>G	ENSP00000417686:p.Asn173His					SLBP_ENST00000318386.4_Missense_Mutation_p.N180H|SLBP_ENST00000488267.1_Missense_Mutation_p.N138H|SLBP_ENST00000429429.2_Missense_Mutation_p.N134H	p.N173H	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0055)		6	883	-		Breast(71;0.212)|all_epithelial(65;0.241)	173			RNA-binding.		B3KRJ5	Missense_Mutation	SNP	ENST00000489418.1	37	c.517A>C	CCDS3350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.283356|4.283356	0.80803|0.80803	.|.	.|.	ENSG00000163950|ENSG00000163950	ENST00000429429;ENST00000489418;ENST00000460392;ENST00000318386;ENST00000488267|ENST00000480936	.|.	.|.	.|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78291|.	0.4260|.	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.983;0.996;0.986;0.991;0.996|.	T|.	0.81444|.	-0.0930|.	9|.	0.72032|.	D|.	0.01|.	-11.9811|-11.9811	14.5258|14.5258	0.67887|0.67887	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	138;180;134;153;173|.	E7EUV9;F8W8D3;B3KRJ5;C9IY53;Q14493|.	.;.;.;.;SLBP_HUMAN|.	H|S	134;173;153;180;138|180	.|.	ENSP00000316490:N180H|.	N|X	-|-	1|2	0|2	SLBP|SLBP	1667839|1667839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.748000|0.748000	0.42578|0.42578	7.343000|7.343000	0.79319|0.79319	1.838000|1.838000	0.53458|0.53458	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.458	SLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203176.1	NM_006527		28	97	0	0	0	1	0	28	97				
SCEL	8796	broad.mit.edu	37	13	78173503	78173503	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78173503G>T	ENST00000349847.3	+	14	921	c.837G>T	c.(835-837)aaG>aaT	p.K279N	SCEL_ENST00000377246.3_Missense_Mutation_p.K259N|SCEL_ENST00000535157.1_Missense_Mutation_p.K257N|SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000469982.1_Intron	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	279	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAAATCCAAAGGTAGAAGAAA	0.368																																						ENST00000535157.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.(769-771)aaG>aaT		sciellin							70.0	65.0	67.0					13																	78173503		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78173503G>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.837G>T	13.37:g.78173503G>T	ENSP00000302579:p.Lys279Asn					SCEL_ENST00000469982.1_Intron|SCEL_ENST00000377246.3_Missense_Mutation_p.K259N|SCEL_ENST00000349847.3_Missense_Mutation_p.K279N	p.K257N	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	13	941	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	279			16 X approximate tandem repeats.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.771G>T	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417028	0.62511	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.26810	1.71;1.71;1.71	5.56	4.71	0.59529	.	0.200292	0.35646	N	0.003066	T	0.39682	0.1087	L	0.51422	1.61	0.35503	D	0.799939	D;P;D	0.63046	0.982;0.897;0.992	P;P;P	0.61397	0.837;0.645;0.888	T	0.52793	-0.8528	10	0.59425	D	0.04	-11.5004	10.8895	0.46988	0.0875:0.0:0.9125:0.0	.	257;259;279	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	N	236;257;259;279	ENSP00000437895:K257N;ENSP00000366454:K259N;ENSP00000302579:K279N	ENSP00000315127:K236N	K	+	3	2	SCEL	77071504	0.998000	0.40836	0.402000	0.26371	0.755000	0.42902	1.352000	0.34033	1.481000	0.48307	0.650000	0.86243	AAG		0.368	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		9	21	1	0	7.48243e-07	1	8.49459e-07	9	21				
TET1	80312	broad.mit.edu	37	10	70405909	70405909	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70405909A>G	ENST00000373644.4	+	4	3632	c.3423A>G	c.(3421-3423)aaA>aaG	p.K1141K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1141					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CATTAACAAAACAAAAGAACC	0.388																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(3421-3423)aaA>aaG		tet methylcytosine dioxygenase 1							83.0	76.0	78.0					10																	70405909		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405909A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3423A>G	10.37:g.70405909A>G							p.K1141K	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			4	3632	+			1141					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.3423A>G	CCDS7281.1																																																																																				0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		6	55	0	0	0	1	0	6	55				
ZNF546	339327	broad.mit.edu	37	19	40514459	40514459	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40514459G>A	ENST00000347077.4	+	6	597	c.381G>A	c.(379-381)agG>agA	p.R127R	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.R101R	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	127	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGGACAAGGAATTGGTTCA	0.463																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(379-381)agG>agA		zinc finger protein 546							134.0	136.0	135.0					19																	40514459		2203	4300	6503	SO:0001819	synonymous_variant	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40514459G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.381G>A	19.37:g.40514459G>A						ZNF546_ENST00000600094.1_Silent_p.R101R|ZNF546_ENST00000596894.1_Intron	p.R127R	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			6	597	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		127			KRAB.		A8K913	Silent	SNP	ENST00000347077.4	37	c.381G>A	CCDS12548.1																																																																																				0.463	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		29	52	0	0	0	1	0	29	52				
SON	6651	broad.mit.edu	37	21	34921873	34921873	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34921873A>C	ENST00000356577.4	+	3	811	c.336A>C	c.(334-336)aaA>aaC	p.K112N	SON_ENST00000300278.4_Missense_Mutation_p.K112N|SON_ENST00000290239.6_Missense_Mutation_p.K112N|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.K112N	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	112					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGAAGCATAAAAAGCACaaaa	0.328											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(334-336)aaA>aaC		SON DNA binding protein							25.0	27.0	26.0					21																	34921873		2202	4299	6501	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34921873A>C	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.336A>C	21.37:g.34921873A>C	ENSP00000348984:p.Lys112Asn		OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	SON_ENST00000290239.6_Missense_Mutation_p.K112N|SON_ENST00000381679.4_Missense_Mutation_p.K112N|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.K112N	p.K112N	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	811	+			112					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.336A>C	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.712195	0.68730	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000008	T	0.30417	0.0764	L	0.29908	0.895	0.32243	N	0.572382	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.31194	-0.9952	10	0.87932	D	0	.	13.7654	0.62992	1.0:0.0:0.0:0.0	.	112;112;112	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	N	112	ENSP00000348984:K112N;ENSP00000290239:K112N;ENSP00000300278:K112N;ENSP00000371095:K112N	ENSP00000290239:K112N	K	+	3	2	SON	33843743	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.278000	0.43426	2.326000	0.78906	0.533000	0.62120	AAA		0.328	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		11	18	0	0	0	1	0	11	18				
GALNT13	114805	broad.mit.edu	37	2	155306999	155306999	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:155306999T>G	ENST00000392825.3	+	13	2174	c.1607T>G	c.(1606-1608)aTg>aGg	p.M536R	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	536	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTGCCTACAATGCAGGACTGT	0.448																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(1606-1608)aTg>aGg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							111.0	93.0	99.0					2																	155306999		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155306999T>G	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1607T>G	2.37:g.155306999T>G	ENSP00000376570:p.Met536Arg					AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	p.M536R	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			13	2174	+			536			Ricin B-type lectin.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1607T>G	CCDS2199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.54|19.54	3.846838|3.846838	0.71603|0.71603	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000392825|ENST00000450838	T|.	0.27720|.	1.65|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.124327|.	0.85682|.	D|.	0.000000|.	T|T	0.77718|0.77718	0.4172|0.4172	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	B|.	0.30634|.	0.288|.	B|.	0.40038|.	0.317|.	T|T	0.79460|0.79460	-0.1794|-0.1794	10|5	0.87932|.	D|.	0|.	.|.	14.5927|14.5927	0.68378|0.68378	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	536|.	Q8IUC8|.	GLT13_HUMAN|.	R|K	536|121	ENSP00000376570:M536R|.	ENSP00000376570:M536R|.	M|N	+|+	2|3	0|2	GALNT13|GALNT13	155015245|155015245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.175000|7.175000	0.77632|0.77632	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.448	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		11	30	0	0	0	1	0	11	30				
FAM209A	200232	broad.mit.edu	37	20	55100881	55100881	+	Nonsense_Mutation	SNP	C	C	T	rs368902169		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:55100881C>T	ENST00000371328.3	+	2	594	c.271C>T	c.(271-273)Cga>Tga	p.R91*	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCCTGGCCTTCGAGGCGGCCA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		21663	0.0		0.0	False		,,,				2504	0.001					ENST00000371328.3																			0											c.(271-273)Cga>Tga		family with sequence similarity 209, member A		C	stop/ARG,	0,4406		0,0,2203	131.0	138.0	136.0		271,	2.7	0.0	20		136	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,utr-5	GCNT7,C20orf106	NM_001012971.3,NM_080615.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	91/172,	55100881	1,13005	2203	4300	6503	SO:0001587	stop_gained	200232							g.chr20:55100881C>T	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.271C>T	20.37:g.55100881C>T	ENSP00000360379:p.Arg91*					GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	p.R91*	NM_001012971.3	NP_001012989.2					2	594	+								Q05C43	Nonsense_Mutation	SNP	ENST00000371328.3	37	c.271C>T	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713820	0.89112	0.0	1.16E-4	ENSG00000124103	ENST00000371328	.	.	.	3.7	2.67	0.31697	.	0.682160	0.12082	N	0.501260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8967	9.5912	0.39548	0.0:0.7846:0.2154:0.0	.	.	.	.	X	91	.	ENSP00000360379:R91X	R	+	1	2	C20orf106	54534288	0.167000	0.22975	0.005000	0.12908	0.029000	0.11900	1.117000	0.31234	1.796000	0.52611	0.411000	0.27672	CGA		0.438	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			49	119	0	0	0	1	0	49	119				
TMPRSS15	5651	broad.mit.edu	37	21	19775932	19775932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:19775932G>T	ENST00000284885.3	-	1	41	c.8C>A	c.(7-9)tCg>tAg	p.S3*		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	3						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCCTCTTTTCGACCCCATTTT	0.348																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(7-9)tCg>tAg		transmembrane protease, serine 15							118.0	114.0	115.0					21																	19775932		2203	4300	6503	SO:0001587	stop_gained	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19775932G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.8C>A	21.37:g.19775932G>T	ENSP00000284885:p.Ser3*						p.S3*	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			1	41	-			3					Q2NKL7	Nonsense_Mutation	SNP	ENST00000284885.3	37	c.8C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275315	0.80580	.	.	ENSG00000154646	ENST00000284885	.	.	.	5.16	2.56	0.30785	.	0.810362	0.11072	N	0.602816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4464	0.21879	0.2601:0.0:0.7399:0.0	.	.	.	.	X	3	.	.	S	-	2	0	TMPRSS15	18697803	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	1.385000	0.34408	0.778000	0.33520	0.563000	0.77884	TCG		0.348	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		10	48	1	0	7.48243e-07	1	8.49459e-07	10	48				
KCTD3	51133	broad.mit.edu	37	1	215793542	215793542	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215793542A>C	ENST00000259154.4	+	18	2324	c.2030A>C	c.(2029-2031)aAc>aCc	p.N677T	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	677					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTAATTTGAACAGAAATGTA	0.418																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(2029-2031)aAc>aCc		potassium channel tetramerization domain containing 3							65.0	66.0	66.0					1																	215793542		2203	4299	6502	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793542A>C	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2030A>C	1.37:g.215793542A>C	ENSP00000259154:p.Asn677Thr					KCTD3_ENST00000495537.1_3'UTR	p.N677T	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2324	+			677					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.2030A>C	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790615	0.31685	.	.	ENSG00000136636	ENST00000259154	T	0.37584	1.19	5.71	2.1	0.27182	.	0.152005	0.56097	D	0.000024	T	0.17450	0.0419	N	0.16478	0.41	0.29040	N	0.885174	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.003;0.001	T	0.17471	-1.0368	10	0.19590	T	0.45	-15.7172	4.9886	0.14202	0.649:0.0:0.2239:0.1271	.	427;429;675;677	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	T	677	ENSP00000259154:N677T	ENSP00000259154:N677T	N	+	2	0	KCTD3	213860165	0.998000	0.40836	0.861000	0.33841	0.982000	0.71751	0.626000	0.24492	0.102000	0.17638	0.533000	0.62120	AAC		0.418	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		26	28	0	0	0	1	0	26	28				
GMPS	8833	broad.mit.edu	37	3	155652731	155652731	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155652731T>C	ENST00000496455.2	+	14	2038	c.1703T>C	c.(1702-1704)gTt>gCt	p.V568A	GMPS_ENST00000295920.7_Missense_Mutation_p.V469A	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	568					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GGCCCACCAGTTAAAGAACCT	0.378			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1702-1704)gTt>gCt		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						151.0	135.0	140.0					3																	155652731		1819	4069	5888	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155652731T>C	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1703T>C	3.37:g.155652731T>C	ENSP00000419851:p.Val568Ala					GMPS_ENST00000295920.7_Missense_Mutation_p.V469A	p.V568A	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		14	2038	+			568					A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.1703T>C	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.002806	0.93287	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.67	5.67	0.87782	GMP synthase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.53249	1.67	0.80722	D	1	P;B	0.36577	0.558;0.425	P;P	0.48770	0.534;0.589	T	0.69289	-0.5184	9	0.45353	T	0.12	-22.5471	15.9135	0.79491	0.0:0.0:0.0:1.0	.	469;568	F8W720;P49915	.;GUAA_HUMAN	A	568;469;517;568	.	ENSP00000295920:V469A	V	+	2	0	GMPS	157135425	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.903000	0.87398	2.153000	0.67306	0.528000	0.53228	GTT		0.378	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			19	52	0	0	0	1	0	19	52				
DRP2	1821	broad.mit.edu	37	X	100500053	100500053	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100500053C>T	ENST00000395209.3	+	10	1629	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	DRP2_ENST00000538510.1_Missense_Mutation_p.P368S|DRP2_ENST00000402866.1_Missense_Mutation_p.P368S|DRP2_ENST00000541709.1_Missense_Mutation_p.P290S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	368	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAATAAAGTTCCCTACTACAT	0.493																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1102-1104)Ccc>Tcc		dystrophin related protein 2							175.0	168.0	170.0					X																	100500053		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100500053C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1102C>T	X.37:g.100500053C>T	ENSP00000378635:p.Pro368Ser					DRP2_ENST00000541709.1_Missense_Mutation_p.P290S|DRP2_ENST00000538510.1_Missense_Mutation_p.P368S|DRP2_ENST00000402866.1_Missense_Mutation_p.P368S	p.P368S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			10	1629	+			368			WW.		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1102C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662925	0.88251	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.51	5.51	0.81932	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.91928	0.7444	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93016	0.6436	10	0.87932	D	0	-12.5681	18.0365	0.89305	0.0:1.0:0.0:0.0	.	368	Q13474	DRP2_HUMAN	S	368;368;290;368	ENSP00000385038:P368S;ENSP00000378635:P368S;ENSP00000444752:P290S;ENSP00000441051:P368S	ENSP00000378635:P368S	P	+	1	0	DRP2	100386709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.300000	0.77407	0.544000	0.68410	CCC		0.493	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		83	168	0	0	0	1	0	83	168				
MED13L	23389	broad.mit.edu	37	12	116534522	116534522	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116534522T>C	ENST00000281928.3	-	4	637	c.431A>G	c.(430-432)aAa>aGa	p.K144R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	144						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GACAAACCATTTCCCAATCCT	0.388																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(430-432)aAa>aGa		mediator complex subunit 13-like							136.0	120.0	126.0					12																	116534522		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116534522T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.431A>G	12.37:g.116534522T>C	ENSP00000281928:p.Lys144Arg						p.K144R	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	4	637	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		144					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.431A>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695593	0.68386	.	.	ENSG00000123066	ENST00000281928	T	0.77098	-1.07	5.42	5.42	0.78866	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.83977	0.5371	L	0.49455	1.56	0.49483	D	0.999798	D	0.69078	0.997	D	0.77004	0.989	T	0.82707	-0.0324	10	0.33940	T	0.23	.	14.4436	0.67336	0.0:0.0:0.0:1.0	.	144	Q71F56	MD13L_HUMAN	R	144	ENSP00000281928:K144R	ENSP00000281928:K144R	K	-	2	0	MED13L	115018905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.862000	0.69560	2.061000	0.61500	0.533000	0.62120	AAA		0.388	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			19	18	0	0	0	1	0	19	18				
DLGAP5	9787	broad.mit.edu	37	14	55625460	55625460	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55625460C>T	ENST00000247191.2	-	14	1870		c.e14-1		DLGAP5_ENST00000395425.2_Splice_Site	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAACTTTTTTCTGCAAAGAGA	0.338																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.e14-1		discs, large (Drosophila) homolog-associated protein 5							63.0	63.0	63.0					14																	55625460		2202	4300	6502	SO:0001630	splice_region_variant	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55625460C>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1654-1G>A	14.37:g.55625460C>T						DLGAP5_ENST00000395425.2_Splice_Site		NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			14	1870	-								A8MTM6|B4DRM8|Q86T11|Q8NG58	Splice_Site	SNP	ENST00000247191.2	37		CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900112	0.33535	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5357	0.87830	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLGAP5	54695213	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	4.338000	0.59316	2.669000	0.90835	0.591000	0.81541	.		0.338	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750	Intron	11	20	0	0	0	1	0	11	20				
FRMD5	84978	broad.mit.edu	37	15	44180393	44180393	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44180393G>A	ENST00000417257.1	-	10	1040	c.864C>T	c.(862-864)atC>atT	p.I288I	FRMD5_ENST00000402883.1_Silent_p.I288I|FRMD5_ENST00000484674.1_Silent_p.I194I	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	288	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CTTGGTTCTCGATTCCACATT	0.448																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(862-864)atC>atT		FERM domain containing 5							130.0	117.0	121.0					15																	44180393		2198	4298	6496	SO:0001819	synonymous_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44180393G>A	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.864C>T	15.37:g.44180393G>A						FRMD5_ENST00000402883.1_Silent_p.I288I|FRMD5_ENST00000484674.1_Silent_p.I194I	p.I288I	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	10	1040	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	288			FERM.		Q8NBG4	Silent	SNP	ENST00000417257.1	37	c.864C>T	CCDS10107.2																																																																																				0.448	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		17	33	0	0	0	1	0	17	33				
TMEM41A	90407	broad.mit.edu	37	3	185214663	185214663	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:185214663C>T	ENST00000421852.1	-	2	321	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	TMEM41A_ENST00000296254.3_Missense_Mutation_p.A76T|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	76						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TAGAGGTAGGCGCCGCAGAAG	0.587																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(226-228)Gcc>Acc		transmembrane protein 41A							54.0	53.0	53.0					3																	185214663		2203	4300	6503	SO:0001583	missense	90407					integral to membrane		g.chr3:185214663C>T	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.226G>A	3.37:g.185214663C>T	ENSP00000406885:p.Ala76Thr					TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Missense_Mutation_p.A76T	p.A76T	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		2	321	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		76					A8K4B3|D3DNU2|Q6ZMJ0	Missense_Mutation	SNP	ENST00000421852.1	37	c.226G>A	CCDS3271.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099667	0.94197	.	.	ENSG00000163900	ENST00000421852;ENST00000296254	.	.	.	5.43	4.56	0.56223	.	0.163293	0.53938	N	0.000054	T	0.77398	0.4124	M	0.79614	2.46	0.80722	D	1	B;D	0.89917	0.141;1.0	B;D	0.69479	0.034;0.964	T	0.78306	-0.2255	9	0.42905	T	0.14	-21.1633	13.9168	0.63902	0.0:0.9266:0.0:0.0733	.	76;76	F8WDE2;Q96HV5	.;TM41A_HUMAN	T	76	.	ENSP00000296254:A76T	A	-	1	0	TMEM41A	186697357	1.000000	0.71417	0.963000	0.40424	0.902000	0.53008	5.875000	0.69660	1.288000	0.44600	0.655000	0.94253	GCC		0.587	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		14	13	0	0	0	1	0	14	13				
GRXCR1	389207	broad.mit.edu	37	4	43032511	43032511	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:43032511C>T	ENST00000399770.2	+	4	827	c.827C>T	c.(826-828)gCt>gTt	p.A276V		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	276					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAGTGTACGGCTTGCAATGAA	0.443																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(826-828)gCt>gTt		glutaredoxin, cysteine rich 1							165.0	155.0	158.0					4																	43032511		1908	4127	6035	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:43032511C>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.827C>T	4.37:g.43032511C>T	ENSP00000382670:p.Ala276Val						p.A276V	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			4	827	+			276						Missense_Mutation	SNP	ENST00000399770.2	37	c.827C>T	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086426	0.76642	.	.	ENSG00000215203	ENST00000399770	T	0.23754	1.89	5.64	5.64	0.86602	.	0.193827	0.35040	U	0.003481	T	0.28034	0.0691	L	0.29908	0.895	0.53688	D	0.999978	P	0.46987	0.888	P	0.47102	0.537	T	0.00773	-1.1572	10	0.30078	T	0.28	-14.3572	18.6692	0.91504	0.0:1.0:0.0:0.0	.	276	A8MXD5	GRCR1_HUMAN	V	276	ENSP00000382670:A276V	ENSP00000382670:A276V	A	+	2	0	GRXCR1	42727268	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	5.729000	0.68538	2.649000	0.89929	0.579000	0.79373	GCT		0.443	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		49	73	0	0	0	1	0	49	73				
MPP1	4354	broad.mit.edu	37	X	154007592	154007592	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154007592C>T	ENST00000369534.3	-	12	1408	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	MPP1_ENST00000413259.3_Missense_Mutation_p.A391T|MPP1_ENST00000393531.1_Missense_Mutation_p.A401T	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	421	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.|Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGCGGATGGCCTCAGAGTCC	0.527													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14438	0.0		0.0	False		,,,				2504	0.0					ENST00000413259.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(1171-1173)Gcc>Acc		membrane protein, palmitoylated 1, 55kDa							77.0	64.0	68.0					X																	154007592		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154007592C>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.1261G>A	X.37:g.154007592C>T	ENSP00000358547:p.Ala421Thr					MPP1_ENST00000369534.3_Missense_Mutation_p.A421T|MPP1_ENST00000393531.1_Missense_Mutation_p.A401T	p.A391T	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN			13	1563	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		421			Guanylate kinase-like.|Interaction with MPP5.		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.1171G>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835979	0.32421	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531	T;T;T	0.47177	0.85;0.85;0.85	5.86	1.37	0.22104	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.632272	0.17933	N	0.157114	T	0.29126	0.0724	L	0.38175	1.15	0.33812	D	0.62794	B;B;B;B	0.13594	0.008;0.001;0.005;0.006	B;B;B;B	0.11329	0.005;0.006;0.005;0.006	T	0.17107	-1.0380	10	0.27785	T	0.31	.	1.6295	0.02729	0.1589:0.4421:0.1521:0.2468	.	404;391;401;421	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	T	421;391;401	ENSP00000358547:A421T;ENSP00000400155:A391T;ENSP00000377165:A401T	ENSP00000358547:A421T	A	-	1	0	MPP1	153660786	0.991000	0.36638	0.972000	0.41901	0.927000	0.56198	1.103000	0.31062	0.609000	0.30018	0.600000	0.82982	GCC		0.527	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		20	57	0	0	0	1	0	20	57				
SCGB2B2	284402	broad.mit.edu	37	19	35085454	35085454	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35085454G>A	ENST00000601241.1	-	2	2115	c.15C>T	c.(13-15)tcC>tcT	p.S5S	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.S5S			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	5						extracellular region (GO:0005576)											CACAGGTGGCGGATGTCACCC	0.587																																						ENST00000601241.1																			0											c.(13-15)tcC>tcT		secretoglobin, family 2B, member 2							80.0	67.0	72.0					19																	35085454		2203	4300	6503	SO:0001819	synonymous_variant	284402					extracellular region	binding	g.chr19:35085454G>A	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.15C>T	19.37:g.35085454G>A						SCGB2B2_ENST00000379204.2_Silent_p.S5S|SCGB2B2_ENST00000595326.1_Intron	p.S5S			Q4G0G5	SCGBL_HUMAN			2	2115	-			5						Silent	SNP	ENST00000601241.1	37	c.15C>T	CCDS32989.1																																																																																				0.587	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591		15	44	0	0	0	1	0	15	44				
CSF1R	1436	broad.mit.edu	37	5	149435833	149435833	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149435833G>A	ENST00000286301.3	-	18	2682	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	797	Activation loop.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in HDLS). {ECO:0000269|PubMed:22197934}.		cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TAGCCAGCCCGAAGTCCCCAA	0.572																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(2389-2391)ttC>ttT		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						149.0	136.0	140.0					5																	149435833		2203	4300	6503	SO:0001819	synonymous_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149435833G>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2391C>T	5.37:g.149435833G>A							p.F797F	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		18	2682	-			797			Protein kinase.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	c.2391C>T	CCDS4302.1																																																																																				0.572	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		35	81	0	0	0	1	0	35	81				
BTN1A1	696	broad.mit.edu	37	6	26508797	26508797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26508797C>T	ENST00000244513.6	+	7	1042	c.976C>T	c.(976-978)Cga>Tga	p.R326*		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	326	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AAAATCTGTTCGACTGGAAGA	0.483																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(976-978)Cga>Tga		butyrophilin, subfamily 1, member A1							165.0	165.0	165.0					6																	26508797		2203	4300	6503	SO:0001587	stop_gained	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26508797C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.976C>T	6.37:g.26508797C>T	ENSP00000244513:p.Arg326*						p.R326*	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			7	1042	+			326			B30.2/SPRY.		Q4VAN3|Q4VAN4|Q9H458	Nonsense_Mutation	SNP	ENST00000244513.6	37	c.976C>T	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266828	0.59540	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	.	.	.	5.33	2.1	0.27182	.	0.803125	0.10665	N	0.648197	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4595	0.07527	0.2188:0.4985:0.0:0.2827	.	.	.	.	X	326	.	ENSP00000244513:R326X	R	+	1	2	BTN1A1	26616776	0.000000	0.05858	0.135000	0.22099	0.352000	0.29268	-0.474000	0.06607	0.740000	0.32651	0.655000	0.94253	CGA		0.483	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		7	180	0	0	0	1	0	7	180				
SBNO2	22904	broad.mit.edu	37	19	1147372	1147372	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1147372T>C	ENST00000361757.3	-	4	452	c.215A>G	c.(214-216)gAc>gGc	p.D72G	SBNO2_ENST00000587024.1_Missense_Mutation_p.D72G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	72					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATAGCTGGTGTCTGGGCAGGG	0.687																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(214-216)gAc>gGc		strawberry notch homolog 2 (Drosophila)							43.0	56.0	52.0					19																	1147372		2009	4155	6164	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1147372T>C	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.215A>G	19.37:g.1147372T>C	ENSP00000354733:p.Asp72Gly					SBNO2_ENST00000587024.1_Missense_Mutation_p.D72G	p.D72G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	452	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	72					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.215A>G	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.961957	0.34659	.	.	ENSG00000064932	ENST00000361757	.	.	.	2.75	2.75	0.32379	.	0.522407	0.15736	U	0.247161	T	0.28134	0.0694	L	0.36672	1.1	0.28493	N	0.914382	B	0.26363	0.147	B	0.21917	0.037	T	0.11397	-1.0589	9	0.22706	T	0.39	.	7.3872	0.26888	0.0:0.0:0.0:1.0	.	72	Q9Y2G9	SBNO2_HUMAN	G	72	.	ENSP00000354733:D72G	D	-	2	0	SBNO2	1098372	0.997000	0.39634	0.209000	0.23619	0.191000	0.23601	3.137000	0.50562	1.526000	0.49068	0.459000	0.35465	GAC		0.687	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		26	31	0	0	0	1	0	26	31				
NHLRC3	387921	broad.mit.edu	37	13	39616246	39616246	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39616246C>A	ENST00000379600.3	+	4	712	c.390C>A	c.(388-390)ttC>ttA	p.F130L	NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Intron	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	130						extracellular vesicular exosome (GO:0070062)		p.F130L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TTATAGGATTCTTTGGTCATA	0.318																																						ENST00000379600.3																			1	Substitution - Missense(1)	p.F130L(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11						c.(388-390)ttC>ttA		NHL repeat containing 3							73.0	70.0	71.0					13																	39616246		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39616246C>A		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.390C>A	13.37:g.39616246C>A	ENSP00000368920:p.Phe130Leu					NHLRC3_ENST00000379599.2_Intron|NHLRC3_ENST00000470258.1_5'UTR	p.F130L	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	4	712	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	130					B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.390C>A	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	C	4.267	0.048572	0.08243	.	.	ENSG00000188811	ENST00000379600	T	0.40476	1.03	5.07	-0.346	0.12620	Six-bladed beta-propeller, TolB-like (1);	0.616244	0.17058	N	0.188658	T	0.20251	0.0487	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.09997	-1.0649	9	.	.	.	-0.0195	2.0348	0.03537	0.2409:0.3947:0.2158:0.1486	.	130;130	Q5JS37;B4DRC8	NHLC3_HUMAN;.	L	130	ENSP00000368920:F130L	.	F	+	3	2	NHLRC3	38514246	0.000000	0.05858	0.735000	0.30896	0.370000	0.29829	-0.271000	0.08572	0.131000	0.18576	0.467000	0.42956	TTC		0.318	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		15	18	1	0	3.27435e-08	1	3.83577e-08	15	18				
RBFA	79863	broad.mit.edu	37	18	77805878	77805878	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:77805878A>G	ENST00000306735.5	+	7	893	c.755A>G	c.(754-756)aAa>aGa	p.K252R	RP11-795F19.5_ENST00000564012.1_Intron|RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_Missense_Mutation_p.K224E	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	252					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ATGGAGTACAAAAGGAGGAAA	0.587																																						ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(754-756)aAa>aGa		ribosome binding factor A (putative)							64.0	75.0	71.0					18																	77805878		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77805878A>G	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.755A>G	18.37:g.77805878A>G	ENSP00000305696:p.Lys252Arg					RBFA_ENST00000262197.7_Missense_Mutation_p.K224E|RBFADN_ENST00000569722.1_Intron	p.K252R	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN			7	893	+			252					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.755A>G	CCDS12021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.73|15.73	2.919516|2.919516	0.52653|0.52653	.|.	.|.	ENSG00000101546|ENSG00000101546	ENST00000262197|ENST00000306735	T|T	0.54071|0.35973	0.59|1.28	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000003|0.000003	T|T	0.56688|0.56688	0.2002|0.2002	.|.	.|.	.|.	0.23449|0.23449	N|N	0.99765|0.99765	B|D	0.31817|0.89917	0.341|1.0	B|D	0.30495|0.71870	0.116|0.975	T|T	0.52465|0.52465	-0.8572|-0.8572	9|9	0.87932|0.87932	D|D	0|0	-16.8076|-16.8076	12.1226|12.1226	0.53900|0.53900	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	224|252	Q8N0V3-2|Q8N0V3	.|RBFA_HUMAN	E|R	224|252	ENSP00000262197:K224E|ENSP00000305696:K252R	ENSP00000262197:K224E|ENSP00000305696:K252R	K|K	+|+	1|2	0|0	RBFA|RBFA	75906866|75906866	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.293000|0.293000	0.27360|0.27360	5.025000|5.025000	0.64097|0.64097	1.912000|1.912000	0.55364|0.55364	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.587	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		53	69	0	0	0	1	0	53	69				
DTX4	23220	broad.mit.edu	37	11	58949740	58949740	+	Missense_Mutation	SNP	G	G	A	rs542889400		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58949740G>A	ENST00000227451.3	+	2	844	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	DTX4_ENST00000532982.1_Missense_Mutation_p.R141Q	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	247					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGCACCATTCGAGGCCCACTG	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17675	0.0		0.0	False		,,,				2504	0.0					ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(739-741)cGa>cAa		deltex homolog 4 (Drosophila)							32.0	44.0	40.0					11																	58949740		2106	4233	6339	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949740G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.740G>A	11.37:g.58949740G>A	ENSP00000227451:p.Arg247Gln					DTX4_ENST00000532982.1_Missense_Mutation_p.R141Q	p.R247Q	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			2	844	+		all_epithelial(135;0.125)	247					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.740G>A	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	4.834	0.154980	0.09236	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.11495	2.77;2.97	4.62	3.71	0.42584	.	0.434461	0.20612	N	0.088949	T	0.09512	0.0234	L	0.60455	1.87	0.29548	N	0.851592	P	0.48998	0.918	B	0.35655	0.207	T	0.13656	-1.0501	10	0.22706	T	0.39	.	10.1958	0.43054	0.0944:0.0:0.9056:0.0	.	247	Q9Y2E6	DTX4_HUMAN	Q	141;247	ENSP00000434055:R141Q;ENSP00000227451:R247Q	ENSP00000227451:R247Q	R	+	2	0	DTX4	58706316	0.134000	0.22483	0.688000	0.30117	0.002000	0.02628	1.148000	0.31614	1.183000	0.42943	-0.137000	0.14449	CGA		0.652	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		14	31	0	0	0	1	0	14	31				
DAZL	1618	broad.mit.edu	37	3	16633591	16633591	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:16633591C>A	ENST00000399444.2	-	10	1093	c.800G>T	c.(799-801)aGa>aTa	p.R267I	DAZL_ENST00000250863.8_Missense_Mutation_p.R287I	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	267					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						AACAGAGTTTCTCAGTCTGTT	0.363																																						ENST00000250863.8																		RAF1/DAZL(2)	0				endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						c.(859-861)aGa>aTa		deleted in azoospermia-like							217.0	220.0	219.0					3																	16633591		2203	4300	6503	SO:0001583	missense	1618				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr3:16633591C>A	BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"""RNA binding motif (RRM) containing"""	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.800G>T	3.37:g.16633591C>A	ENSP00000382373:p.Arg267Ile					DAZL_ENST00000399444.2_Missense_Mutation_p.R267I	p.R287I	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN			10	1147	-			267					O15396|Q5HYB4|Q92909	Missense_Mutation	SNP	ENST00000399444.2	37	c.860G>T	CCDS43059.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226249	0.58668	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	T;T	0.26067	1.76;1.78	5.19	5.19	0.71726	.	0.376195	0.27802	N	0.017784	T	0.28599	0.0708	M	0.72479	2.2	0.58432	D	0.999999	P;B	0.49358	0.923;0.384	B;B	0.36504	0.226;0.088	T	0.21075	-1.0256	10	0.44086	T	0.13	-5.6833	16.4851	0.84182	0.0:1.0:0.0:0.0	.	267;287	Q92904;Q5HYB4	DAZL_HUMAN;.	I	287;267	ENSP00000250863:R287I;ENSP00000382373:R267I	ENSP00000250863:R287I	R	-	2	0	DAZL	16608595	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.299000	0.43611	2.415000	0.81967	0.561000	0.74099	AGA		0.363	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351		36	76	1	0	1.47197e-15	1	1.94065e-15	36	76				
ABCC8	6833	broad.mit.edu	37	11	17428261	17428261	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17428261G>A	ENST00000389817.3	-	26	3305	c.3237C>T	c.(3235-3237)ctC>ctT	p.L1079L	ABCC8_ENST00000302539.4_Silent_p.L1080L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1079	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CAGACGTGACGAGGCACAGCA	0.587																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3238-3240)ctC>ctT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						156.0	126.0	136.0					11																	17428261		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428261G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3237C>T	11.37:g.17428261G>A						ABCC8_ENST00000389817.3_Silent_p.L1079L	p.L1080L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	26	3365	-			1079			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.3240C>T	CCDS31437.1																																																																																				0.587	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		10	102	0	0	0	1	0	10	102				
ZBTB21	49854	broad.mit.edu	37	21	43412056	43412056	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43412056C>T	ENST00000310826.5	-	3	2332	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	ZBTB21_ENST00000398499.1_Missense_Mutation_p.E717K|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E717K|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	717					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TCCTTGTTTTCTACTGGACTT	0.478																																						ENST00000310826.5																			0											c.(2149-2151)Gaa>Aaa		zinc finger and BTB domain containing 21							153.0	178.0	169.0					21																	43412056		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43412056C>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2149G>A	21.37:g.43412056C>T	ENSP00000308759:p.Glu717Lys					ZBTB21_ENST00000398511.3_Missense_Mutation_p.E717K|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E717K	p.E717K	NM_001098402.1	NP_001091872.1					3	2332	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2149G>A	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513130	0.27123	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.07021	3.23;3.23;3.23	5.38	4.48	0.54585	.	0.949026	0.08738	N	0.900965	T	0.09992	0.0245	L	0.44542	1.39	0.09310	N	1	B	0.23058	0.079	B	0.19391	0.025	T	0.41538	-0.9503	10	0.10111	T	0.7	-6.3121	15.8962	0.79336	0.0:0.8642:0.1358:0.0	.	717	Q9ULJ3	ZN295_HUMAN	K	717	ENSP00000308759:E717K;ENSP00000381512:E717K;ENSP00000381523:E717K	ENSP00000308759:E717K	E	-	1	0	ZNF295	42285125	0.206000	0.23470	0.001000	0.08648	0.975000	0.68041	3.287000	0.51732	1.237000	0.43756	0.551000	0.68910	GAA		0.478	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		93	168	0	0	0	1	0	93	168				
C17orf47	284083	broad.mit.edu	37	17	56620179	56620179	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56620179G>T	ENST00000321691.3	-	1	1550	c.1369C>A	c.(1369-1371)Ctt>Att	p.L457I	SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	457										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACAATAAAAGATCTAGGGAA	0.478																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1369-1371)Ctt>Att		chromosome 17 open reading frame 47							145.0	159.0	154.0					17																	56620179		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620179G>T		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1369C>A	17.37:g.56620179G>T	ENSP00000354874:p.Leu457Ile					RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.L457I	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	1550	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		457					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1369C>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	3.770	-0.047798	0.07407	.	.	ENSG00000181013	ENST00000321691	T	0.30981	1.51	5.62	2.3	0.28687	.	0.672275	0.14331	N	0.326332	T	0.16385	0.0394	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19712	-1.0297	10	0.62326	D	0.03	-0.2027	5.1241	0.14875	0.1034:0.0:0.537:0.3596	.	457	Q8NEP4	CQ047_HUMAN	I	457	ENSP00000354874:L457I	ENSP00000354874:L457I	L	-	1	0	C17orf47	53975178	0.179000	0.23135	0.029000	0.17559	0.027000	0.11550	1.065000	0.30592	0.202000	0.20498	0.561000	0.74099	CTT		0.478	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		85	157	1	0	3.73172e-31	1	5.33794e-31	85	157				
PLAA	9373	broad.mit.edu	37	9	26923230	26923230	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:26923230A>C	ENST00000397292.3	-	7	1402	c.985T>G	c.(985-987)Tta>Gta	p.L329V	PLAA_ENST00000520884.1_Missense_Mutation_p.L329V	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	329					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ATGTCCCCTAAATCGCCAGTT	0.393																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(985-987)Tta>Gta		phospholipase A2-activating protein							190.0	171.0	177.0					9																	26923230		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26923230A>C	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.985T>G	9.37:g.26923230A>C	ENSP00000380460:p.Leu329Val					PLAA_ENST00000520884.1_Missense_Mutation_p.L329V	p.L329V	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	7	1402	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	329					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.985T>G	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.81|17.81	3.480285|3.480285	0.63849|0.63849	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000517642|ENST00000397292;ENST00000520884	.|T;T	.|0.53857	.|0.6;0.69	4.86|4.86	-0.222|-0.222	0.13122|0.13122	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.29850|0.29850	0.0746|0.0746	N|N	0.12637|0.12637	0.245|0.245	0.48696|0.48696	D|D	0.999697|0.999697	.|P;P	.|0.52577	.|0.954;0.533	.|P;B	.|0.47206	.|0.541;0.149	T|T	0.37798|0.37798	-0.9690|-0.9690	5|10	.|0.02654	.|T	.|1	-6.8671|-6.8671	9.1667|9.1667	0.37056|0.37056	0.6538:0.0:0.3462:0.0|0.6538:0.0:0.3462:0.0	.|.	.|329;329	.|E5RIM3;Q9Y263	.|.;PLAP_HUMAN	C|V	1|329	.|ENSP00000380460:L329V;ENSP00000429372:L329V	.|ENSP00000380460:L329V	F|L	-|-	2|1	0|2	PLAA|PLAA	26913230|26913230	0.996000|0.996000	0.38824|0.38824	0.945000|0.945000	0.38365|0.38365	0.988000|0.988000	0.76386|0.76386	1.881000|1.881000	0.39638|0.39638	-0.207000|-0.207000	0.10187|0.10187	0.533000|0.533000	0.62120|0.62120	TTT|TTA		0.393	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		4	83	0	0	0	1	0	4	83				
TUBBP1	92755	broad.mit.edu	37	8	30210772	30210772	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30210772G>A	ENST00000518096.1	+	0	1384									tubulin, beta pseudogene 1																		CAACATGAACGACCTCGTCTC	0.587																																						ENST00000518096.1																			0																																																			0							g.chr8:30210772G>A	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30210772G>A														0	1384	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.587	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		19	69	0	0	0	1	0	19	69				
DLX3	1747	broad.mit.edu	37	17	48068973	48068973	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48068973T>C	ENST00000434704.2	-	3	997	c.772A>G	c.(772-774)Agt>Ggt	p.S258G	DLX3_ENST00000512495.2_Missense_Mutation_p.S138G	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	258					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TGGGGTCCACTCAGGTTCTGT	0.682																																						ENST00000434704.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(772-774)Agt>Ggt		distal-less homeobox 3							43.0	38.0	40.0					17																	48068973		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48068973T>C		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.772A>G	17.37:g.48068973T>C	ENSP00000389870:p.Ser258Gly					DLX3_ENST00000512495.2_Missense_Mutation_p.S138G	p.S258G	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN			3	997	-			258					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.772A>G	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.112349	0.37242	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.91407	-2.76;-2.84	5.29	5.29	0.74685	.	0.133513	0.56097	D	0.000034	D	0.86138	0.5861	L	0.54323	1.7	0.36405	D	0.86336	B	0.25667	0.131	B	0.19666	0.026	D	0.83997	0.0341	10	0.24483	T	0.36	-10.4164	9.4734	0.38856	0.0:0.0:0.1782:0.8218	.	258	O60479	DLX3_HUMAN	G	258;138	ENSP00000389870:S258G;ENSP00000449976:S138G	ENSP00000389870:S258G	S	-	1	0	DLX3	45423972	0.702000	0.27816	1.000000	0.80357	0.996000	0.88848	0.890000	0.28295	2.023000	0.59567	0.454000	0.30748	AGT		0.682	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			17	25	0	0	0	1	0	17	25				
ACPP	55	broad.mit.edu	37	3	132075553	132075553	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132075553A>G	ENST00000336375.5	+	10	1082	c.992A>G	c.(991-993)tAt>tGt	p.Y331C	ACPP_ENST00000475741.1_Missense_Mutation_p.Y298C|ACPP_ENST00000351273.7_Missense_Mutation_p.Y331C	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	331					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GAGATGTACTATCGGAATGAG	0.532																																						ENST00000336375.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(991-993)tAt>tGt		acid phosphatase, prostate							140.0	128.0	132.0					3																	132075553		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132075553A>G		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.992A>G	3.37:g.132075553A>G	ENSP00000337471:p.Tyr331Cys					ACPP_ENST00000475741.1_Missense_Mutation_p.Y298C|ACPP_ENST00000351273.7_Missense_Mutation_p.Y331C	p.Y331C	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN			10	1082	+			331					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.992A>G	CCDS3073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.942848|3.942848	0.73672|0.73672	.|.	.|.	ENSG00000014257|ENSG00000014257	ENST00000507647|ENST00000336375;ENST00000475741;ENST00000351273	.|T;T;T	.|0.23147	.|1.92;1.92;1.92	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.61413|0.61413	0.2345|0.2345	H|H	0.94222|0.94222	3.51|3.51	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.997	T|T	0.72218|0.72218	-0.4357|-0.4357	5|10	.|0.87932	.|D	.|0	.|.	12.3122|12.3122	0.54935|0.54935	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|331;331;298	.|P15309;P15309-2;Q5FBY0	.|PPAP_HUMAN;.;.	V|C	16|331;298;331	.|ENSP00000337471:Y331C;ENSP00000417744:Y298C;ENSP00000323036:Y331C	.|ENSP00000337471:Y331C	I|Y	+|+	1|2	0|0	ACPP|ACPP	133558243|133558243	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.956000|0.956000	0.61745|0.61745	3.837000|3.837000	0.55820|0.55820	2.164000|2.164000	0.68074|0.68074	0.533000|0.533000	0.62120|0.62120	ATC|TAT		0.532	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		53	98	0	0	0	1	0	53	98				
PLXNA4	91584	broad.mit.edu	37	7	131866291	131866291	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131866291C>T	ENST00000359827.3	-	18	4303	c.3341G>A	c.(3340-3342)aGg>aAg	p.R1114K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1114K			Q9HCM2	PLXA4_HUMAN	plexin A4	1114	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCTCGGGCCTCTCGGTCAG	0.577																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3340-3342)aGg>aAg		plexin A4							107.0	111.0	110.0					7																	131866291		1928	4122	6050	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866291C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3341G>A	7.37:g.131866291C>T	ENSP00000352882:p.Arg1114Lys					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1114K	p.R1114K			Q9HCM2	PLXA4_HUMAN			18	4303	-			1114			IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3341G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466772	0.63625	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.58652	0.32;0.32	5.25	5.25	0.73442	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.097258	0.64402	D	0.000004	T	0.54935	0.1889	L	0.52126	1.63	0.50632	D	0.999887	B	0.17038	0.02	B	0.23852	0.049	T	0.49952	-0.8884	10	0.22109	T	0.4	.	18.8552	0.92249	0.0:1.0:0.0:0.0	.	1114	Q9HCM2	PLXA4_HUMAN	K	1114	ENSP00000323194:R1114K;ENSP00000352882:R1114K	ENSP00000323194:R1114K	R	-	2	0	PLXNA4	131516831	0.998000	0.40836	0.999000	0.59377	0.960000	0.62799	3.853000	0.55941	2.459000	0.83118	0.561000	0.74099	AGG		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		32	70	0	0	0	1	0	32	70				
USP29	57663	broad.mit.edu	37	19	57640189	57640189	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57640189G>T	ENST00000254181.4	+	4	600	c.146G>T	c.(145-147)aGa>aTa	p.R49I	USP29_ENST00000598197.1_Missense_Mutation_p.R49I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	49					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATTTATAAGAATTTTTCAG	0.353																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(145-147)aGa>aTa		ubiquitin specific peptidase 29							45.0	49.0	47.0					19																	57640189		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640189G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.146G>T	19.37:g.57640189G>T	ENSP00000254181:p.Arg49Ile					USP29_ENST00000598197.1_Missense_Mutation_p.R49I	p.R49I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	600	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	49						Missense_Mutation	SNP	ENST00000254181.4	37	c.146G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131689	0.37630	.	.	ENSG00000131864	ENST00000254181	T	0.56103	0.48	2.79	1.75	0.24633	.	0.439792	0.16860	U	0.196577	T	0.50820	0.1638	L	0.50333	1.59	0.09310	N	1	D	0.54772	0.968	P	0.50970	0.655	T	0.41088	-0.9528	10	0.87932	D	0	-0.9093	5.6238	0.17470	0.1534:0.0:0.8466:0.0	.	49	Q9HBJ7	UBP29_HUMAN	I	49	ENSP00000254181:R49I	ENSP00000254181:R49I	R	+	2	0	USP29	62332001	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.100000	0.15231	0.712000	0.32039	-0.218000	0.12543	AGA		0.353	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			13	17	1	0	0.000219431	1	0.000235335	13	17				
SGOL1	151648	broad.mit.edu	37	3	20219833	20219833	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:20219833C>T	ENST00000263753.4	-	4	485	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SGOL1_ENST00000306698.2_Missense_Mutation_p.E116K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E116K|SGOL1_ENST00000425061.1_Missense_Mutation_p.E116K|SGOL1_ENST00000412997.1_Missense_Mutation_p.E116K|SGOL1_ENST00000429446.3_Missense_Mutation_p.E116K|SGOL1_ENST00000437051.1_Missense_Mutation_p.E116K|SGOL1_ENST00000383774.1_Missense_Mutation_p.E116K|SGOL1_ENST00000421451.1_Missense_Mutation_p.E116K|SGOL1_ENST00000419233.2_Missense_Mutation_p.E116K|SGOL1_ENST00000443724.1_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000452020.1_Missense_Mutation_p.E116K|SGOL1_ENST00000412868.1_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000442720.1_Missense_Mutation_p.E116K	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	116	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GAACATATTTCCTGGTTCTGT	0.313																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(346-348)Gaa>Aaa		shugoshin-like 1 (S. pombe)							91.0	93.0	93.0					3																	20219833		2203	4298	6501	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20219833C>T	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.346G>A	3.37:g.20219833C>T	ENSP00000263753:p.Glu116Lys					SGOL1_ENST00000442720.1_Missense_Mutation_p.E116K|SGOL1_ENST00000437051.1_Missense_Mutation_p.E116K|SGOL1_ENST00000452020.1_Missense_Mutation_p.E116K|SGOL1_ENST00000383774.1_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000429446.3_Missense_Mutation_p.E116K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E116K|SGOL1_ENST00000421451.1_Missense_Mutation_p.E116K|SGOL1_ENST00000419233.2_Missense_Mutation_p.E116K|SGOL1_ENST00000306698.2_Missense_Mutation_p.E116K|SGOL1_ENST00000425061.1_Missense_Mutation_p.E116K|SGOL1_ENST00000263753.4_Missense_Mutation_p.E116K|SGOL1_ENST00000412868.1_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000443724.1_Missense_Mutation_p.E116K	p.E116K	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			4	697	-			116			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.346G>A	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.571861	0.00895	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.42900	0.96;1.53;0.96;0.96;0.96;1.53;1.55;0.98;1.55;0.98	5.84	2.68	0.31781	.	0.521095	0.20371	N	0.093651	T	0.23611	0.0571	L	0.46741	1.465	0.09310	N	1	B;P;B;B;B;P;B	0.37636	0.285;0.603;0.015;0.043;0.1;0.603;0.1	B;B;B;B;B;B;B	0.30943	0.122;0.057;0.015;0.019;0.038;0.1;0.038	T	0.21449	-1.0245	10	0.02654	T	1	-10.8936	5.496	0.16804	0.0:0.6086:0.0:0.3914	.	116;116;116;116;116;116;116	Q5FBB7-7;B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;.;SGOL1_HUMAN;.	K	116	ENSP00000394625:E116K;ENSP00000263753:E116K;ENSP00000373284:E116K;ENSP00000414960:E116K;ENSP00000413070:E116K;ENSP00000414129:E116K;ENSP00000410458:E116K;ENSP00000389034:E116K;ENSP00000406880:E116K;ENSP00000394613:E116K	ENSP00000263753:E116K	E	-	1	0	SGOL1	20194837	0.644000	0.27277	0.040000	0.18447	0.062000	0.15995	0.834000	0.27518	0.796000	0.33947	0.591000	0.81541	GAA		0.313	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		13	28	0	0	0	1	0	13	28				
MROH7	374977	broad.mit.edu	37	1	55119575	55119575	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55119575T>C	ENST00000421030.2	+	3	1261	c.976T>C	c.(976-978)Tgc>Cgc	p.C326R	MROH7_ENST00000339553.5_Missense_Mutation_p.C326R|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.C326R|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.C326R	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	326	Ser-rich.					extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCCACCCTCATGCATGACTCT	0.562																																						ENST00000414150.2																			0											c.(976-978)Tgc>Cgc		maestro heat-like repeat family member 7							124.0	120.0	122.0					1																	55119575		2154	4247	6401	SO:0001583	missense	374977							g.chr1:55119575T>C	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.976T>C	1.37:g.55119575T>C	ENSP00000396622:p.Cys326Arg					MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.C326R|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.C326R|MROH7_ENST00000421030.2_Missense_Mutation_p.C326R|MROH7_ENST00000409996.1_Intron	p.C326R							3	1254	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.976T>C	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	T	8.483	0.860176	0.17178	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.04317	3.65;3.65;3.65	3.49	2.35	0.29111	.	0.680937	0.12321	N	0.479234	T	0.08492	0.0211	L	0.27053	0.805	0.09310	N	0.999998	D;P;D	0.65815	0.962;0.926;0.995	P;P;P	0.61592	0.758;0.628;0.891	T	0.30357	-0.9981	10	0.87932	D	0	.	5.5373	0.17018	0.0:0.1273:0.0:0.8727	.	326;326;326	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	R	326	ENSP00000396622:C326R;ENSP00000343211:C326R;ENSP00000379044:C326R	ENSP00000343211:C326R	C	+	1	0	HEATR8	54892163	0.912000	0.30974	0.052000	0.19188	0.046000	0.14306	1.672000	0.37523	0.708000	0.31955	0.459000	0.35465	TGC		0.562	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		54	101	0	0	0	1	0	54	101				
CMKLR1	1240	broad.mit.edu	37	12	108686288	108686288	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108686288C>T	ENST00000312143.7	-	3	815	c.452G>A	c.(451-453)cGc>cAc	p.R151H	CMKLR1_ENST00000550402.1_Missense_Mutation_p.R151H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R151H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R149H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R149H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	151					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCGAACGCTGCGGTGGTTCTG	0.567																																						ENST00000312143.7																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(451-453)cGc>cAc		chemokine-like receptor 1							75.0	78.0	77.0					12																	108686288		2145	4253	6398	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686288C>T	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.452G>A	12.37:g.108686288C>T	ENSP00000311733:p.Arg151His					CMKLR1_ENST00000552995.1_Missense_Mutation_p.R149H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R151H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R151H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R149H	p.R151H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN			3	815	-			151					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.452G>A	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999507	0.74818	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82074	-0.0637	10	0.87932	D	0	.	17.788	0.88543	0.0:1.0:0.0:0.0	.	151	Q99788	CML1_HUMAN	H	151;151;149;149;151	ENSP00000311733:R151H;ENSP00000401293:R151H;ENSP00000380803:R149H;ENSP00000447579:R149H;ENSP00000449716:R151H	ENSP00000311733:R151H	R	-	2	0	CMKLR1	107210418	1.000000	0.71417	0.977000	0.42913	0.254000	0.26022	7.786000	0.85741	2.448000	0.82819	0.486000	0.48141	CGC		0.567	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			4	90	0	0	0	1	0	4	90				
PCMTD1	115294	broad.mit.edu	37	8	52773557	52773557	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52773557T>G	ENST00000360540.5	-	3	561	c.155A>C	c.(154-156)aAa>aCa	p.K52T	PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000521344.1_Missense_Mutation_p.K52T|PCMTD1_ENST00000522514.1_Missense_Mutation_p.K52T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	52						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGCTAAGTCTTTGTAAGCATT	0.408																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(154-156)aAa>aCa		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							120.0	109.0	113.0					8																	52773557		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52773557T>G		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.155A>C	8.37:g.52773557T>G	ENSP00000353739:p.Lys52Thr					PCMTD1_ENST00000522514.1_Missense_Mutation_p.K52T|PCMTD1_ENST00000521344.1_Missense_Mutation_p.K52T|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron	p.K52T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			3	561	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	52					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.155A>C	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434677	0.83885	.	.	ENSG00000168300	ENST00000360540;ENST00000522514;ENST00000521344	T;T;T	0.40756	1.02;1.02;1.02	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.50333	1.59	0.80722	D	1	P	0.47191	0.891	P	0.49999	0.628	T	0.35101	-0.9802	10	0.29301	T	0.29	-38.6132	15.8734	0.79141	0.0:0.0:0.0:1.0	.	52	Q96MG8	PCMD1_HUMAN	T	52	ENSP00000353739:K52T;ENSP00000428099:K52T;ENSP00000430168:K52T	ENSP00000353739:K52T	K	-	2	0	PCMTD1	52936110	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	7.517000	0.81783	2.204000	0.70986	0.528000	0.53228	AAA		0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		18	38	0	0	0	1	0	18	38				
MAN1A2	10905	broad.mit.edu	37	1	118045593	118045593	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118045593G>T	ENST00000356554.3	+	12	2528		c.e12+1			NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2						cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AAACATTAAAGTAAGTATATA	0.333																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27						c.e12+1		mannosidase, alpha, class 1A, member 2							54.0	51.0	52.0					1																	118045593		2201	4296	6497	SO:0001630	splice_region_variant	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:118045593G>T	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1793+1G>T	1.37:g.118045593G>T								NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	12	2528	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)						Q9H510	Splice_Site	SNP	ENST00000356554.3	37		CCDS895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.001502|4.001502	0.74818|0.74818	.|.	.|.	ENSG00000198162|ENSG00000198162	ENST00000356554;ENST00000329466;ENST00000449370;ENST00000421535;ENST00000422329|ENST00000369450	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67002	.|0.2847	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65438	.|-0.6168	.|4	.|.	.|.	.|.	.|-20.8387	16.8979|16.8979	0.86105|0.86105	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|362	.|.	.|.	.|K	+|+	.|3	.|2	MAN1A2|MAN1A2	117847116|117847116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	9.434000|9.434000	0.97515|0.97515	2.591000|2.591000	0.87537|0.87537	0.603000|0.603000	0.83216|0.83216	.|AAG		0.333	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699	Intron	8	7	1	0	5.18039e-06	1	5.75679e-06	8	7				
PPP2R1A	5518	broad.mit.edu	37	19	52705261	52705261	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52705261G>A	ENST00000322088.6	+	2	201	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E27K|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	48	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAAGGACCCGAAGTGAGCTT	0.512			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(142-144)cGa>cAa		protein phosphatase 2, regulatory subunit A, alpha							81.0	76.0	78.0					19																	52705261		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52705261G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.143G>A	19.37:g.52705261G>A	ENSP00000324804:p.Arg48Gln					PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E27K|PPP2R1A_ENST00000473455.2_3'UTR	p.R48Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	2	201	+			48			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.143G>A	CCDS12849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.046680|4.046680	0.75846|0.75846	.|.	.|.	ENSG00000105568|ENSG00000105568	ENST00000391791;ENST00000444322|ENST00000454220;ENST00000423369;ENST00000322088	.|T;T	.|0.32753	.|1.44;1.44	4.49|4.49	3.45|3.45	0.39498|0.39498	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.113265	.|0.37530	.|N	.|0.002057	T|T	0.43722|0.43722	0.1260|0.1260	H|H	0.94345|0.94345	3.525|3.525	0.48087|0.48087	D|D	0.999587|0.999587	B|D;D	0.27656|0.58970	0.184|0.984;0.984	B|B;B	0.25140|0.40982	0.058|0.345;0.345	T|T	0.61272|0.61272	-0.7096|-0.7096	8|10	0.62326|0.66056	D|D	0.03|0.02	-9.5159|-9.5159	10.5862|10.5862	0.45284|0.45284	0.0953:0.0:0.9047:0.0|0.0953:0.0:0.9047:0.0	.|.	27|48;48	F5H3X9|A8K7B7;P30153	.|.;2AAA_HUMAN	K|Q	27|88;48;48	.|ENSP00000391905:R88Q;ENSP00000324804:R48Q	ENSP00000375668:E27K|ENSP00000324804:R48Q	E|R	+|+	1|2	0|0	PPP2R1A|PPP2R1A	57397073|57397073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.689000|0.689000	0.40095|0.40095	8.259000|8.259000	0.89855|0.89855	1.250000|1.250000	0.43966|0.43966	-0.152000|-0.152000	0.13540|0.13540	GAA|CGA		0.512	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		16	22	0	0	0	1	0	16	22				
TPTE	7179	broad.mit.edu	37	21	10908881	10908881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10908881G>T	ENST00000361285.4	-	23	1793	c.1464C>A	c.(1462-1464)taC>taA	p.Y488*	TPTE_ENST00000298232.7_Nonsense_Mutation_p.Y470*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.Y450*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	488	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATTGTCATAGTATGTAGGAA	0.274																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1408-1410)taC>taA		transmembrane phosphatase with tensin homology							105.0	100.0	102.0					21																	10908881		2202	4297	6499	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10908881G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1464C>A	21.37:g.10908881G>T	ENSP00000355208:p.Tyr488*					TPTE_ENST00000342420.5_Nonsense_Mutation_p.Y450*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.Y488*	p.Y470*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	22	1777	-			488		L -> P (in dbSNP:rs150482).	C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.1410C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	21.7	4.187146	0.78789	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.18	2.18	0.27775	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1665	10.4863	0.44724	0.0:0.0:1.0:0.0	.	.	.	.	X	470;488;450	.	ENSP00000298232:Y470X	Y	-	3	2	TPTE	9930752	1.000000	0.71417	0.865000	0.33974	0.068000	0.16541	1.534000	0.36051	1.521000	0.48983	0.184000	0.17185	TAC		0.274	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			8	29	1	0	0.00307968	1	0.00320271	8	29				
ZNF286A	57335	broad.mit.edu	37	17	15620411	15620411	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15620411G>T	ENST00000464847.2	+	5	1926	c.1373G>T	c.(1372-1374)aGa>aTa	p.R458I	ZNF286A_ENST00000593105.1_Missense_Mutation_p.R448I|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R458I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R458I			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R458I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAACATCAAAGAATTCATATT	0.408																																						ENST00000464847.2																			1	Substitution - Missense(1)	p.R458I(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1372-1374)aGa>aTa		zinc finger protein 286A							58.0	64.0	62.0					17																	15620411		2203	4300	6503	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15620411G>T	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1373G>T	17.37:g.15620411G>T	ENSP00000464218:p.Arg458Ile					ZNF286A_ENST00000583566.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R448I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R458I|ZNF286A_ENST00000395894.2_3'UTR	p.R458I			Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	5	1926	+			458					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.1373G>T	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	16.90	3.250480	0.59212	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.02446	4.29;4.29	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000354	T	0.11452	0.0279	M	0.79475	2.455	0.58432	D	0.999991	D	0.67145	0.996	D	0.66196	0.942	T	0.00102	-1.2062	10	0.62326	D	0.03	-24.723	7.9552	0.30038	0.1106:0.0:0.8894:0.0	.	458	Q9HBT8	Z286A_HUMAN	I	458;448;458	ENSP00000397163:R458I;ENSP00000408168:R448I	ENSP00000435872:R458I	R	+	2	0	ZNF286A	15561136	0.914000	0.31030	1.000000	0.80357	0.998000	0.95712	1.855000	0.39378	2.296000	0.77279	0.650000	0.86243	AGA		0.408	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		19	26	1	0	2.4624e-09	1	2.95225e-09	19	26				
SNX7	51375	broad.mit.edu	37	1	99161227	99161227	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99161227A>C	ENST00000306121.3	+	5	802	c.793A>C	c.(793-795)Aat>Cat	p.N265H	SNX7_ENST00000370189.5_Missense_Mutation_p.N201H|SNX7_ENST00000529992.1_Missense_Mutation_p.N210H	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	201					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CCAGAAAATAAATTTGATAGA	0.338																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(601-603)Aat>Cat		sorting nexin 7							38.0	48.0	45.0					1																	99161227		2199	4295	6494	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161227A>C	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.793A>C	1.37:g.99161227A>C	ENSP00000304429:p.Asn265His					SNX7_ENST00000306121.3_Missense_Mutation_p.N265H|SNX7_ENST00000529992.1_Missense_Mutation_p.N210H	p.N201H			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	6	965	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	201					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.601A>C	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808227	0.70797	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.30448	1.93;1.53;1.53	5.65	5.65	0.86999	.	0.187599	0.56097	D	0.000030	T	0.43122	0.1233	L	0.57536	1.79	0.46113	D	0.99887	D;D;D	0.76494	0.999;0.988;0.967	D;P;P	0.71656	0.974;0.854;0.77	T	0.32348	-0.9910	10	0.51188	T	0.08	-43.7004	16.1657	0.81754	1.0:0.0:0.0:0.0	.	210;265;201	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	H	201;210;265	ENSP00000359208:N201H;ENSP00000434731:N210H;ENSP00000304429:N265H	ENSP00000304429:N265H	N	+	1	0	SNX7	98933815	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.862000	0.48388	2.276000	0.75962	0.528000	0.53228	AAT		0.338	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			6	54	0	0	0	1	0	6	54				
ATM	472	broad.mit.edu	37	11	108165729	108165729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108165729C>T	ENST00000452508.2	+	33	5041	c.4852C>T	c.(4852-4854)Cga>Tga	p.R1618*	ATM_ENST00000278616.4_Nonsense_Mutation_p.R1618*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1618					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E1612_Q1620>*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAAGGATCTTCGAAGACAACT	0.358			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Complex - deletion inframe(1)	p.E1612_Q1620>*(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448	GRCh37	CM983653	ATM	M		c.(4852-4854)Cga>Tga	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							154.0	155.0	154.0					11																	108165729		2201	4298	6499	SO:0001587	stop_gained	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108165729C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4852C>T	11.37:g.108165729C>T	ENSP00000388058:p.Arg1618*	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Nonsense_Mutation_p.R1618*	p.R1618*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	32	5237	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1618					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.4852C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	45	11.844775	0.99609	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.55	4.64	0.57946	.	0.417641	0.25264	N	0.031927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.263	0.37623	0.1443:0.7829:0.0:0.0729	.	.	.	.	X	1618	.	ENSP00000278616:R1618X	R	+	1	2	ATM	107670939	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	2.086000	0.41643	1.337000	0.45525	0.650000	0.86243	CGA		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		24	45	0	0	0	1	0	24	45				
MUC16	94025	broad.mit.edu	37	19	9062453	9062453	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9062453C>T	ENST00000397910.4	-	3	25196	c.24993G>A	c.(24991-24993)gaG>gaA	p.E8331E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8333	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCAGTCTCTCATGGGAGG	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24991-24993)gaG>gaA		mucin 16, cell surface associated							159.0	153.0	155.0					19																	9062453		2041	4187	6228	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062453C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24993G>A	19.37:g.9062453C>T							p.E8331E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	25196	-			8333			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.24993G>A	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		42	88	0	0	0	1	0	42	88				
IGHG2	3501	broad.mit.edu	37	14	106110409	106110409	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106110409G>A	ENST00000390545.2	-	0	326							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GCTTACCTGGGCACGGTGGGC	0.622																																						ENST00000390545.2																			0																				136.0	133.0	134.0					14																	106110409		2072	4215	6287			0							g.chr14:106110409G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110409G>A														0	326	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.622	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		72	108	0	0	0	1	0	72	108				
MMP1	4312	broad.mit.edu	37	11	102665933	102665933	+	Missense_Mutation	SNP	G	G	A	rs200225512		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102665933G>A	ENST00000315274.6	-	6	938	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	291					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	ACTTCTCCCCGAATCGTAGTT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		21389	0.0		0.0	False		,,,				2504	0.001					ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(871-873)Cgg>Tgg		matrix metallopeptidase 1 (interstitial collagenase)							176.0	159.0	165.0					11																	102665933		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102665933G>A	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.871C>T	11.37:g.102665933G>A	ENSP00000322788:p.Arg291Trp					WTAPP1_ENST00000525739.2_RNA	p.R291W	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	6	938	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	291			Hemopexin-like 1.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.871C>T	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	17.77	3.471355	0.63737	.	.	ENSG00000196611	ENST00000315274	T	0.17054	2.3	5.73	4.73	0.59995	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000016	T	0.51261	0.1664	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62779	-0.6782	10	0.87932	D	0	.	10.9805	0.47490	0.0:0.1241:0.692:0.1839	.	291	P03956	MMP1_HUMAN	W	291	ENSP00000322788:R291W	ENSP00000322788:R291W	R	-	1	2	MMP1	102171143	0.989000	0.36119	0.942000	0.38095	0.720000	0.41350	2.219000	0.42899	1.325000	0.45301	0.655000	0.94253	CGG		0.398	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		6	94	0	0	0	1	0	6	94				
DMD	1756	broad.mit.edu	37	X	31947829	31947829	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:31947829T>G	ENST00000357033.4	-	47	7002	c.6796A>C	c.(6796-6798)Att>Ctt	p.I2266L	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.I2262L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2266					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTTTGAGAATTCCCTGGCGC	0.418																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6796-6798)Att>Ctt		dystrophin							134.0	112.0	120.0					X																	31947829		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31947829T>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6796A>C	X.37:g.31947829T>G	ENSP00000354923:p.Ile2266Leu					DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.I2262L	p.I2266L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			47	7002	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2266					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6796A>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862248	0.32884	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49432	0.78;0.78	5.02	5.02	0.67125	.	0.000000	0.34906	U	0.003596	T	0.40719	0.1128	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.29085	0.194;0.002;0.232;0.026;0.016	B;B;B;B;B	0.30855	0.074;0.007;0.121;0.016;0.018	T	0.26677	-1.0096	10	0.28530	T	0.3	.	9.4999	0.39011	0.1598:0.0:0.0:0.8402	.	2258;2266;2262;925;922	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	L	2258;925;922;2262;2266;2266;2143	ENSP00000367948:I2262L;ENSP00000354923:I2266L	ENSP00000354923:I2266L	I	-	1	0	DMD	31857750	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.074000	0.50065	1.763000	0.52060	0.486000	0.48141	ATT		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		32	56	0	0	0	1	0	32	56				
CFHR5	81494	broad.mit.edu	37	1	196977765	196977765	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:196977765T>G	ENST00000256785.4	+	10	1771	c.1662T>G	c.(1660-1662)ttT>ttG	p.F554L	CFHR5_ENST00000367414.5_Missense_Mutation_p.F578L			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	554	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CACCACCATTTCGAGCAATCT	0.353																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1732-1734)ttT>ttG		complement factor H-related 5							114.0	105.0	108.0					1																	196977765		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196977765T>G	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1662T>G	1.37:g.196977765T>G	ENSP00000256785:p.Phe554Leu					CFHR5_ENST00000256785.4_Missense_Mutation_p.F554L	p.F578L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			10	1790	+			554					Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1734T>G	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.998268	0.35226	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.82711	-1.64;-1.64	4.62	3.49	0.39957	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.74253	0.3692	L	0.43701	1.375	0.22266	N	0.999247	P	0.50066	0.931	B	0.44163	0.443	T	0.60974	-0.7156	9	0.10111	T	0.7	.	6.8761	0.24147	0.0:0.1096:0.0:0.8904	.	554	Q9BXR6	FHR5_HUMAN	L	578;554	ENSP00000356384:F578L;ENSP00000256785:F554L	ENSP00000256785:F554L	F	+	3	2	CFHR5	195244388	0.001000	0.12720	0.220000	0.23810	0.019000	0.09904	-0.654000	0.05354	0.728000	0.32382	0.459000	0.35465	TTT		0.353	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		20	44	0	0	0	1	0	20	44				
WNT5B	81029	broad.mit.edu	37	12	1740581	1740581	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:1740581A>G	ENST00000397196.2	+	2	293	c.61A>G	c.(61-63)Aca>Gca	p.T21A	WNT5B_ENST00000310594.3_Missense_Mutation_p.T21A|WNT5B_ENST00000542408.1_Missense_Mutation_p.T21A|WNT5B_ENST00000537031.1_Missense_Mutation_p.T21A	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	21					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TCAGCTTCTGACAGACGCCAA	0.642																																						ENST00000397196.2																			0				skin(1)	1						c.(61-63)Aca>Gca		wingless-type MMTV integration site family, member 5B							77.0	73.0	74.0					12																	1740581		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1740581A>G	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.61A>G	12.37:g.1740581A>G	ENSP00000380379:p.Thr21Ala					WNT5B_ENST00000310594.3_Missense_Mutation_p.T21A|WNT5B_ENST00000537031.1_Missense_Mutation_p.T21A|WNT5B_ENST00000542408.1_Missense_Mutation_p.T21A	p.T21A	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		2	293	+	Ovarian(42;0.107)		21					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.61A>G	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478869	0.26511	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;D;T;T;T;D;T	0.87179	-1.0;-1.67;-0.91;-0.91;-0.91;-2.22;0.03	5.38	3.38	0.38709	.	3.686850	0.00424	N	0.000060	T	0.68128	0.2967	N	0.00707	-1.245	0.25916	N	0.983179	B	0.02656	0.0	B	0.04013	0.001	T	0.61768	-0.6995	10	0.11182	T	0.66	.	10.531	0.44977	0.1256:0.0:0.8744:0.0	.	21	Q9H1J7	WNT5B_HUMAN	A	21	ENSP00000438414:T21A;ENSP00000445395:T21A;ENSP00000439312:T21A;ENSP00000308887:T21A;ENSP00000380379:T21A;ENSP00000442348:T21A;ENSP00000440600:T21A	ENSP00000308887:T21A	T	+	1	0	WNT5B	1610842	0.003000	0.15002	0.041000	0.18516	0.796000	0.44982	1.306000	0.33505	0.500000	0.27991	0.454000	0.30748	ACA		0.642	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			28	57	0	0	0	1	0	28	57				
NOP56	10528	broad.mit.edu	37	20	2638687	2638687	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2638687C>A	ENST00000329276.5	+	12	2048	c.1532C>A	c.(1531-1533)tCt>tAt	p.S511Y	SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORA51_ENST00000606420.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD86_ENST00000391196.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	511	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAAAAGAAATCTTTTTCCAAG	0.448																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1531-1533)tCt>tAt		NOP56 ribonucleoprotein							39.0	49.0	45.0					20																	2638687		2193	4289	6482	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2638687C>A	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1532C>A	20.37:g.2638687C>A	ENSP00000370589:p.Ser511Tyr					NOP56_ENST00000492135.1_3'UTR	p.S511Y	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			12	2048	+			511			Lys-rich.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.1532C>A	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266014	0.59540	.	.	ENSG00000101361	ENST00000329276	T	0.44083	0.93	4.64	3.69	0.42338	.	1.012930	0.07915	N	0.974898	T	0.32763	0.0840	N	0.19112	0.55	0.24281	N	0.995204	B	0.28512	0.214	B	0.31016	0.123	T	0.32052	-0.9921	10	0.62326	D	0.03	-0.1522	11.06	0.47942	0.0:0.8135:0.1865:0.0	.	511	O00567	NOP56_HUMAN	Y	511	ENSP00000370589:S511Y	ENSP00000370589:S511Y	S	+	2	0	NOP56	2586687	0.998000	0.40836	0.982000	0.44146	0.900000	0.52787	2.944000	0.49034	1.537000	0.49254	0.650000	0.86243	TCT		0.448	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		28	51	1	0	8.58068e-18	1	1.15595e-17	28	51				
FBRS	64319	broad.mit.edu	37	16	30680679	30680679	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30680679G>T	ENST00000287468.5	+	12	1359	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	FBRS_ENST00000568722.1_Missense_Mutation_p.A278S|FBRS_ENST00000356166.6_Missense_Mutation_p.A886S|FBRS_ENST00000395073.2_Missense_Mutation_p.A278S	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	366	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			AACCTGGTTGGCAGCACCCCC	0.692																																						ENST00000356166.6																			0				ovary(1)	1						c.(2656-2658)Gca>Tca		fibrosin							14.0	17.0	16.0					16																	30680679		2188	4281	6469	SO:0001583	missense	64319							g.chr16:30680679G>T	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1096G>T	16.37:g.30680679G>T	ENSP00000287468:p.Ala366Ser					FBRS_ENST00000395073.2_Missense_Mutation_p.A278S|FBRS_ENST00000287468.5_Missense_Mutation_p.A366S|FBRS_ENST00000568722.1_Missense_Mutation_p.A278S	p.A886S			Q9HAH7	FBRS_HUMAN	Colorectal(24;0.103)		18	3744	+			366					B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37	c.2656G>T		.	.	.	.	.	.	.	.	.	.	G	10.23	1.293289	0.23564	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32023	1.47	4.76	3.74	0.42951	.	0.180823	0.33813	N	0.004527	T	0.15998	0.0385	N	0.08118	0	0.29061	N	0.883913	B	0.28636	0.218	B	0.27796	0.083	T	0.07986	-1.0744	10	0.21014	T	0.42	-2.2804	14.705	0.69183	0.0:0.1466:0.8534:0.0	.	366	Q9HAH7	FBRS_HUMAN	S	886;366;278	ENSP00000348489:A886S	ENSP00000287468:A366S	A	+	1	0	FBRS	30588180	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.408000	0.44574	2.656000	0.90262	0.561000	0.74099	GCA		0.692	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		19	43	1	0	6.94344e-10	1	8.4399e-10	19	43				
RYR2	6262	broad.mit.edu	37	1	237972271	237972271	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237972271G>A	ENST00000366574.2	+	100	14686	c.14369G>A	c.(14368-14370)cGa>cAa	p.R4790Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R4796Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R4774Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4790					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4788Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATTTTTTCCGAAAATTCTAC	0.353																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.R4788Q(1)	large_intestine(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14368-14370)cGa>cAa		ryanodine receptor 2 (cardiac)							255.0	250.0	251.0					1																	237972271		1845	4091	5936	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237972271G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14369G>A	1.37:g.237972271G>A	ENSP00000355533:p.Arg4790Gln					RYR2_ENST00000360064.6_Missense_Mutation_p.R4796Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R4774Q	p.R4790Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		100	14686	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4790					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14369G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378021	0.95945	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.92048	-2.96;-2.96;-2.96	4.88	4.88	0.63580	Ion transport (1);	0.000000	0.47852	U	0.000203	D	0.95010	0.8385	L	0.55743	1.74	0.54753	D	0.999989	D;D	0.71674	0.998;0.998	P;D	0.76575	0.866;0.988	D	0.95562	0.8630	10	0.87932	D	0	.	18.3877	0.90472	0.0:0.0:1.0:0.0	.	223;4790	F5H3C7;Q92736	.;RYR2_HUMAN	Q	4790;4796;4774;223	ENSP00000355533:R4790Q;ENSP00000353174:R4796Q;ENSP00000443798:R4774Q	ENSP00000353174:R4796Q	R	+	2	0	RYR2	236038894	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.781000	0.99029	2.412000	0.81896	0.563000	0.77884	CGA		0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		61	103	0	0	0	1	0	61	103				
FAM71F2	346653	broad.mit.edu	37	7	128317859	128317859	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:128317859G>A	ENST00000480462.1	+	3	713	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.E194K			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	203										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CAACTCCACAGAAACAACAGT	0.438																																						ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(607-609)Gaa>Aaa		family with sequence similarity 71, member F2							43.0	44.0	43.0					7																	128317859		1975	4198	6173	SO:0001583	missense	346653							g.chr7:128317859G>A	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.607G>A	7.37:g.128317859G>A	ENSP00000420140:p.Glu203Lys					FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.E194K	p.E203K			Q6NXP2	F71F2_HUMAN			3	713	+			203					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.607G>A	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838941	0.32513	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	5.4	2.44	0.29823	.	1.193840	0.06149	N	0.673718	T	0.10852	0.0265	L	0.50333	1.59	0.09310	N	1	B;B	0.18166	0.026;0.015	B;B	0.19391	0.025;0.011	T	0.36187	-0.9758	10	0.31617	T	0.26	-6.8779	3.3423	0.07123	0.0929:0.1733:0.5541:0.1797	.	194;203	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	K	194;203;194;194	ENSP00000418907:E194K;ENSP00000420140:E203K;ENSP00000367976:E194K;ENSP00000401654:E194K	ENSP00000367976:E194K	E	+	1	0	FAM71F2	128105095	0.000000	0.05858	0.007000	0.13788	0.010000	0.07245	0.484000	0.22308	1.390000	0.46547	0.650000	0.86243	GAA		0.438	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			11	24	0	0	0	1	0	11	24				
DDX4	54514	broad.mit.edu	37	5	55081645	55081645	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55081645A>C	ENST00000505374.1	+	13	902	c.810A>C	c.(808-810)aaA>aaC	p.K270N	DDX4_ENST00000514278.2_Missense_Mutation_p.K250N|DDX4_ENST00000354991.5_Missense_Mutation_p.K236N|DDX4_ENST00000353507.5_Missense_Mutation_p.K236N|DDX4_ENST00000511853.1_Missense_Mutation_p.K121N	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	270					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTCGACAAATACGACACTA	0.428																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(808-810)aaA>aaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							98.0	81.0	87.0					5																	55081645		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55081645A>C	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.810A>C	5.37:g.55081645A>C	ENSP00000424838:p.Lys270Asn					DDX4_ENST00000354991.5_Missense_Mutation_p.K236N|DDX4_ENST00000514278.2_Missense_Mutation_p.K250N|DDX4_ENST00000511853.1_Missense_Mutation_p.K121N|DDX4_ENST00000353507.5_Missense_Mutation_p.K236N	p.K270N	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			13	902	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	270					A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.810A>C	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019757	0.54576	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.29	1.6	0.23607	.	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	L	0.47078	1.49	0.53688	D	0.999974	P;D;P;D	0.89917	0.709;1.0;0.813;1.0	B;D;B;D	0.85130	0.281;0.997;0.281;0.987	T	0.45702	-0.9243	10	0.62326	D	0.03	-21.6537	8.7984	0.34894	0.6546:0.0:0.3454:0.0	.	250;121;236;270	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	N	236;250;270;250;236;121	ENSP00000334167:K236N;ENSP00000425359:K250N;ENSP00000424838:K270N;ENSP00000427167:K250N;ENSP00000347087:K236N;ENSP00000423123:K121N	ENSP00000334167:K236N	K	+	3	2	DDX4	55117402	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.546000	0.36179	0.040000	0.15660	0.533000	0.62120	AAA		0.428	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		13	29	0	0	0	1	0	13	29				
BPIFC	254240	broad.mit.edu	37	22	32811907	32811907	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32811907G>T	ENST00000397452.1	-	15	1506	c.1396C>A	c.(1396-1398)Ctt>Att	p.L466I	BPIFC_ENST00000432451.2_Missense_Mutation_p.L223I|BPIFC_ENST00000534972.1_Missense_Mutation_p.L190I|BPIFC_ENST00000300399.3_Missense_Mutation_p.L466I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	466						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CTTACCTCAAGAACTTCAATA	0.343																																						ENST00000397452.1																			0											c.(1396-1398)Ctt>Att		BPI fold containing family C							82.0	82.0	82.0					22																	32811907		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32811907G>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1396C>A	22.37:g.32811907G>T	ENSP00000380594:p.Leu466Ile					BPIFC_ENST00000300399.3_Missense_Mutation_p.L466I|BPIFC_ENST00000432451.2_Missense_Mutation_p.L223I|BPIFC_ENST00000534972.1_Missense_Mutation_p.L190I	p.L466I			Q8NFQ6	BPIL2_HUMAN			15	1506	-			466					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.1396C>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442449	0.43326	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.5	3.37	0.38596	.	0.545093	0.19916	N	0.103184	T	0.10208	0.0250	L	0.52573	1.65	0.29809	N	0.831819	B;B	0.32653	0.257;0.379	B;B	0.33846	0.171;0.129	T	0.12682	-1.0538	10	0.22706	T	0.39	-8.2855	7.9421	0.29965	0.1963:0.0:0.8037:0.0	.	223;466	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	I	466;466;190;223	ENSP00000380594:L466I;ENSP00000300399:L466I;ENSP00000439123:L190I;ENSP00000408920:L223I	ENSP00000300399:L466I	L	-	1	0	BPIFC	31141907	0.023000	0.18921	0.946000	0.38457	0.935000	0.57460	0.058000	0.14301	0.750000	0.32877	0.650000	0.86243	CTT		0.343	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		12	13	1	0	0.105934	1	0.10725	12	13				
CFLAR	8837	broad.mit.edu	37	2	202025201	202025201	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202025201A>T	ENST00000309955.3	+	9	1355	c.840A>T	c.(838-840)aaA>aaT	p.K280N	CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000341582.6_Missense_Mutation_p.K245N|CFLAR_ENST00000340870.5_Missense_Mutation_p.K280N|CFLAR_ENST00000443227.1_Missense_Mutation_p.K184N|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Missense_Mutation_p.K280N|CFLAR_ENST00000479953.2_Missense_Mutation_p.K184N|CFLAR_ENST00000457277.1_Missense_Mutation_p.K280N	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	280	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AAGTCCAGAAATTCTTGCATC	0.478																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(838-840)aaA>aaT		CASP8 and FADD-like apoptosis regulator							171.0	156.0	161.0					2																	202025201		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025201A>T	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.840A>T	2.37:g.202025201A>T	ENSP00000312455:p.Lys280Asn					CFLAR_ENST00000423241.2_Missense_Mutation_p.K280N|CFLAR_ENST00000479953.2_Missense_Mutation_p.K184N|CFLAR_ENST00000340870.5_Missense_Mutation_p.K280N|CFLAR_ENST00000443227.1_Missense_Mutation_p.K184N|CFLAR_ENST00000457277.1_Missense_Mutation_p.K280N|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Missense_Mutation_p.K245N	p.K280N	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN			9	1355	+			280			Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.840A>T	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.567069	0.28003	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.62	-2.41	0.06562	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	2.539020	0.00979	N	0.003345	T	0.13884	0.0336	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.32203	0.122;0.31;0.31;0.36	B;B;B;B	0.33960	0.138;0.108;0.076;0.173	T	0.15093	-1.0449	10	0.27785	T	0.31	17.4722	6.1112	0.20102	0.129:0.4082:0.0:0.4629	.	184;280;245;280	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	N	280;184;280;166;245;280;280	ENSP00000312455:K280N;ENSP00000413270:K184N;ENSP00000339326:K280N;ENSP00000345807:K245N;ENSP00000399420:K280N;ENSP00000411535:K280N	ENSP00000312455:K280N	K	+	3	2	CFLAR	201733446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.186000	0.16978	-0.420000	0.07427	-0.527000	0.04329	AAA		0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		52	96	0	0	0	1	0	52	96				
MXRA5	25878	broad.mit.edu	37	X	3242220	3242220	+	Silent	SNP	G	G	A	rs151156772		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3242220G>A	ENST00000217939.6	-	5	1660	c.1506C>T	c.(1504-1506)aaC>aaT	p.N502N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	502	Ig-like C2-type 1.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGCTTTCACGTTGCAGCTCA	0.542																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1504-1506)aaC>aaT		matrix-remodelling associated 5		A		1,3834		0,1,1631,571	97.0	87.0	90.0		1506	-2.2	0.6	X	dbSNP_134	90	0,6728		0,0,2428,1872	no	coding-synonymous	MXRA5	NM_015419.3		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		502/2829	3242220	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3242220G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1506C>T	X.37:g.3242220G>A							p.N502N	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	1660	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	502			Ig-like C2-type 1.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.1506C>T	CCDS14124.1																																																																																				0.542	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		50	96	0	0	0	1	0	50	96				
PRR35	146325	broad.mit.edu	37	16	613438	613438	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:613438G>T	ENST00000409413.3	+	2	423	c.144G>T	c.(142-144)gaG>gaT	p.E48D		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		48										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGCCTGGAGAAGTCACACC	0.612																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(142-144)gaG>gaT		chromosome 16 open reading frame 11							109.0	119.0	116.0					16																	613438		2095	4214	6309	SO:0001583	missense	146325							g.chr16:613438G>T																												ENST00000409413.3:c.144G>T	16.37:g.613438G>T	ENSP00000386499:p.Glu48Asp						p.E48D	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			2	423	+			48					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.144G>T	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263935	0.95399	.	.	ENSG00000161992	ENST00000409413	.	.	.	4.96	4.96	0.65561	.	0.000000	0.48286	D	0.000185	T	0.78470	0.4288	M	0.71581	2.175	0.49915	D	0.999831	D	0.89917	1.0	D	0.80764	0.994	T	0.81040	-0.1113	9	0.66056	D	0.02	.	17.2001	0.86903	0.0:0.0:1.0:0.0	.	48	P0CG20	CP011_HUMAN	D	48	.	ENSP00000386499:E48D	E	+	3	2	C16orf11	553439	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.823000	0.86660	2.303000	0.77524	0.557000	0.71058	GAG		0.612	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			33	88	1	0	2.48696e-23	1	3.47605e-23	33	88				
PCDH15	65217	broad.mit.edu	37	10	55944895	55944895	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55944895G>A	ENST00000320301.6	-	12	1833	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L	PCDH15_ENST00000395438.1_Splice_Site_p.S480L|PCDH15_ENST00000395433.1_Splice_Site_p.S458L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Splice_Site_p.S485L|PCDH15_ENST00000373965.2_Splice_Site_p.S487L|PCDH15_ENST00000361849.3_Splice_Site_p.S480L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site_p.S91L|PCDH15_ENST00000373955.1_Splice_Site_p.S480L|PCDH15_ENST00000437009.1_Splice_Site_p.S480L|PCDH15_ENST00000395432.2_Splice_Site_p.S443L|PCDH15_ENST00000395445.1_Splice_Site_p.S487L|PCDH15_ENST00000395446.1_Splice_Site_p.S480L|PCDH15_ENST00000395430.1_Splice_Site_p.S480L|PCDH15_ENST00000373957.3_Splice_Site_p.S458L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	480	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S485L(1)|p.S480L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCTTTACCGAAAAGGTGTA	0.383										HNSCC(58;0.16)																												ENST00000373965.2																			2	Substitution - Missense(2)	p.S485L(1)|p.S480L(1)	large_intestine(2)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.e13+1		protocadherin-related 15							144.0	120.0	128.0					10																	55944895		2203	4300	6503	SO:0001630	splice_region_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55944895G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1440+1C>T	10.37:g.55944895G>A		HNSCC(58;0.16)				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Splice_Site_p.S485_splice|PCDH15_ENST00000361849.3_Splice_Site_p.S480_splice|PCDH15_ENST00000395430.1_Splice_Site_p.S480_splice|PCDH15_ENST00000373955.1_Splice_Site_p.S480_splice|PCDH15_ENST00000395445.1_Splice_Site_p.S487_splice|PCDH15_ENST00000409834.1_Splice_Site_p.S91_splice|PCDH15_ENST00000437009.1_Splice_Site_p.S480_splice|PCDH15_ENST00000373957.3_Splice_Site_p.S458_splice|PCDH15_ENST00000395446.1_Splice_Site_p.S480_splice|PCDH15_ENST00000395438.1_Splice_Site_p.S480_splice|PCDH15_ENST00000395433.1_Splice_Site_p.S458_splice|PCDH15_ENST00000320301.6_Splice_Site_p.S480_splice|PCDH15_ENST00000395432.2_Splice_Site_p.S443_splice	p.S487_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			13	1854	-		Melanoma(3;0.117)|Lung SC(717;0.238)	480			Cadherin 4.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Splice_Site	SNP	ENST00000320301.6	37	c.1461_splice	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691913	0.48097	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59906	0.23;0.64;0.64;0.36;0.23;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.1	4.18	0.49190	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48205	0.1487	L	0.51422	1.61	0.38393	D	0.945465	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29188	0.102;0.048;0.021;0.048;0.236;0.102;0.102;0.003;0.01;0.01;0.013;0.003;0.001;0.006;0.102	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20955	0.032;0.021;0.006;0.014;0.021;0.021;0.032;0.005;0.005;0.005;0.008;0.005;0.003;0.014;0.021	T	0.48422	-0.9037	9	0.30078	T	0.28	.	12.0153	0.53311	0.0879:0.0:0.9121:0.0	.	458;480;480;485;480;443;480;480;487;487;480;485;480;458;480	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	487;485;480;480;91;487;480;443;480;458;458;480;480;485;480;480	ENSP00000363076:S487L;ENSP00000410304:S485L;ENSP00000378826:S480L;ENSP00000386693:S91L;ENSP00000378832:S487L;ENSP00000378833:S480L;ENSP00000378820:S443L;ENSP00000354950:S480L;ENSP00000378821:S458L;ENSP00000363068:S458L;ENSP00000322604:S480L;ENSP00000378818:S480L;ENSP00000412628:S480L;ENSP00000363066:S480L	ENSP00000322604:S480L	S	-	2	0	PCDH15	55614901	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.228000	0.58619	1.275000	0.44379	0.586000	0.80456	TCG		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	Missense_Mutation	12	37	0	0	0	1	0	12	37				
N4BP2L1	90634	broad.mit.edu	37	13	32972843	32972843	+	IGR	SNP	A	A	G	rs374275215		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32972843A>G	ENST00000380130.2	-	0	3046				N4BP2L1_ENST00000459716.1_5'Flank|BRCA2_ENST00000544455.1_Missense_Mutation_p.Q3398R|BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3398R	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		GAGAGTTCCCAGGCCAGTACG	0.398																																						ENST00000544455.1										"""D, Mis, N, F, S"""						"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(10192-10194)cAg>cGg	Homologous recombination	breast cancer 2, early onset		A	ARG/GLN	0,4406		0,0,2203	63.0	59.0	61.0		10193	-1.1	0.0	13		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRCA2	NM_000059.3	43	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	3398/3419	32972843	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972843A>G	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972843A>G		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3398R	p.Q3398R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10420	+		Lung SC(185;0.0262)	3398					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.10193A>G	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	A	10.78	1.448226	0.26074	0.0	1.16E-4	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00691	5.84;5.84	5.97	-1.1	0.09872	.	1.710450	0.02932	N	0.139323	T	0.00608	0.0020	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48269	-0.9050	10	0.23302	T	0.38	.	1.1546	0.01793	0.4724:0.1548:0.2377:0.1351	.	3398	P51587	BRCA2_HUMAN	R	3398	ENSP00000369497:Q3398R;ENSP00000439902:Q3398R	ENSP00000369497:Q3398R	Q	+	2	0	BRCA2	31870843	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.180000	0.09754	-0.075000	0.12798	-0.274000	0.10170	CAG		0.398	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		22	47	0	0	0	1	0	22	47				
TXNDC9	10190	broad.mit.edu	37	2	99944079	99944079	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99944079A>G	ENST00000264255.3	-	3	482	c.227T>C	c.(226-228)aTc>aCc	p.I76T	TXNDC9_ENST00000409434.1_Missense_Mutation_p.I76T|TXNDC9_ENST00000434323.1_Missense_Mutation_p.I76T	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	76	Thioredoxin.				cell redox homeostasis (GO:0045454)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)				lung(1)	1						TTCACTAGGGATTTCTCTGTA	0.388																																						ENST00000264255.3																			0				lung(1)	1						c.(226-228)aTc>aCc		thioredoxin domain containing 9							147.0	135.0	139.0					2																	99944079		2203	4300	6503	SO:0001583	missense	10190				cell redox homeostasis		protein binding	g.chr2:99944079A>G	BC005968	CCDS2044.1	2q11.2	2008-02-05			ENSG00000115514	ENSG00000115514			24110	protein-coding gene	gene with protein product		612564				12477932	Standard	NM_005783		Approved	APACD	uc002szz.3	O14530	OTTHUMG00000130641	ENST00000264255.3:c.227T>C	2.37:g.99944079A>G	ENSP00000264255:p.Ile76Thr					TXNDC9_ENST00000409434.1_Missense_Mutation_p.I76T	p.I76T	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN			3	482	-			76			Thioredoxin.		B2R9G8|D3DVI4|Q53HG4|Q53RV8|Q6NSF5|Q8TB70|Q9BRU6	Missense_Mutation	SNP	ENST00000264255.3	37	c.227T>C	CCDS2044.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733424	0.48939	.	.	ENSG00000115514	ENST00000540776;ENST00000264255;ENST00000409434;ENST00000409705	T;T;T	0.18960	2.18;2.18;2.18	5.33	5.33	0.75918	Thioredoxin-like fold (2);	0.045517	0.85682	D	0.000000	T	0.35422	0.0931	M	0.87097	2.86	0.58432	D	0.999999	B;B	0.18863	0.031;0.026	B;B	0.30316	0.114;0.098	T	0.19679	-1.0298	9	.	.	.	-6.8588	15.6	0.76616	1.0:0.0:0.0:0.0	.	93;76	B7Z7A4;O14530	.;TXND9_HUMAN	T	93;76;76;76	ENSP00000264255:I76T;ENSP00000387275:I76T;ENSP00000386889:I76T	.	I	-	2	0	TXNDC9	99310511	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	8.890000	0.92477	2.141000	0.66446	0.455000	0.32223	ATC		0.388	TXNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253129.1	NM_005783		12	27	0	0	0	1	0	12	27				
BHLHB9	80823	broad.mit.edu	37	X	102005204	102005204	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102005204G>T	ENST00000372735.1	+	4	1866	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	BHLHB9_ENST00000448867.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000457056.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000361229.4_Missense_Mutation_p.K427N|BHLHB9_ENST00000447531.1_Missense_Mutation_p.K427N			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	427					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGGATTAAAGATACTAGGAC	0.378																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1279-1281)aaG>aaT		basic helix-loop-helix domain containing, class B, 9							82.0	76.0	78.0					X																	102005204		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102005204G>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1281G>T	X.37:g.102005204G>T	ENSP00000361820:p.Lys427Asn					BHLHB9_ENST00000448867.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000361229.4_Missense_Mutation_p.K427N|BHLHB9_ENST00000457056.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000447531.1_Missense_Mutation_p.K427N	p.K427N			Q6PI77	BHLH9_HUMAN			4	1866	+			427					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.1281G>T	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331286	0.41297	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	4.44	1.63	0.23807	Armadillo-type fold (1);	0.000000	0.44688	D	0.000424	T	0.33469	0.0864	L	0.39898	1.24	0.29403	N	0.861796	D	0.58620	0.983	P	0.54210	0.745	T	0.18335	-1.0340	9	.	.	.	-1.9446	3.1137	0.06367	0.2311:0.0:0.5569:0.2121	.	427	Q6PI77	BHLH9_HUMAN	N	427	ENSP00000403226:K427N;ENSP00000354675:K427N;ENSP00000405893:K427N;ENSP00000391722:K427N;ENSP00000361820:K427N	.	K	+	3	2	BHLHB9	101891860	1.000000	0.71417	0.755000	0.31263	0.955000	0.61496	1.383000	0.34385	0.200000	0.20447	0.422000	0.28245	AAG		0.378	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		23	60	1	0	2.89027e-11	1	3.58842e-11	23	60				
CLEC10A	10462	broad.mit.edu	37	17	6981396	6981396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6981396C>T	ENST00000254868.4	-	3	432	c.104G>A	c.(103-105)tGc>tAc	p.C35Y	CLEC10A_ENST00000576617.1_Missense_Mutation_p.C35Y|CLEC10A_ENST00000416562.2_Missense_Mutation_p.C35Y|CLEC10A_ENST00000571664.1_Missense_Mutation_p.C35Y	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	35			C -> R (in dbSNP:rs90951). {ECO:0000269|PubMed:8598452}.		endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGCCCAGAGCAGAGACGCTG	0.622																																						ENST00000576617.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(103-105)tGc>tAc		C-type lectin domain family 10, member A							104.0	107.0	106.0					17																	6981396		2203	4300	6503	SO:0001583	missense	10462				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	g.chr17:6981396C>T	D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.104G>A	17.37:g.6981396C>T	ENSP00000254868:p.Cys35Tyr					CLEC10A_ENST00000254868.4_Missense_Mutation_p.C35Y|CLEC10A_ENST00000416562.2_Missense_Mutation_p.C35Y|CLEC10A_ENST00000571664.1_Missense_Mutation_p.C35Y	p.C35Y			Q8IUN9	CLC10_HUMAN			3	373	-			35		C -> R (in dbSNP:rs90951).			A8K8J8|Q14538|Q6PIW3	Missense_Mutation	SNP	ENST00000254868.4	37	c.104G>A	CCDS11087.1	.	.	.	.	.	.	.	.	.	.	C	7.878	0.729522	0.15507	.	.	ENSG00000132514	ENST00000254868;ENST00000416562	T;T	0.20738	2.05;2.05	4.43	1.17	0.20885	Hepatic lectin, N-terminal (1);	0.629715	0.15066	N	0.282488	T	0.21509	0.0518	M	0.66297	2.02	0.09310	N	1	B;B;B	0.15719	0.014;0.001;0.012	B;B;B	0.25506	0.005;0.002;0.061	T	0.29212	-1.0019	10	0.72032	D	0.01	.	5.0079	0.14297	0.4187:0.4758:0.0:0.1055	.	35;35;35	Q8IUN9-3;Q8IUN9;Q8IUN9-2	.;CLC10_HUMAN;.	Y	35	ENSP00000254868:C35Y;ENSP00000414938:C35Y	ENSP00000254868:C35Y	C	-	2	0	CLEC10A	6922120	0.076000	0.21285	0.000000	0.03702	0.009000	0.06853	0.337000	0.19841	0.174000	0.19809	-0.339000	0.08088	TGC		0.622	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344		7	179	0	0	0	1	0	7	179				
SSFA2	6744	broad.mit.edu	37	2	182767184	182767184	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182767184A>C	ENST00000431877.2	+	8	1583	c.1404A>C	c.(1402-1404)gaA>gaC	p.E468D	SSFA2_ENST00000428267.2_Missense_Mutation_p.E315D|SSFA2_ENST00000409001.1_Missense_Mutation_p.E468D|SSFA2_ENST00000320370.7_Missense_Mutation_p.E468D	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	468						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCCTTCGAAATGGAAGAGG	0.368																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1402-1404)gaA>gaC		sperm specific antigen 2							60.0	59.0	59.0					2																	182767184		2012	4219	6231	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182767184A>C	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1404A>C	2.37:g.182767184A>C	ENSP00000388731:p.Glu468Asp					SSFA2_ENST00000320370.7_Missense_Mutation_p.E468D|SSFA2_ENST00000428267.2_Missense_Mutation_p.E315D|SSFA2_ENST00000409001.1_Missense_Mutation_p.E468D	p.E468D	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1583	+			468					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.1404A>C	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.486045	0.63962	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.20200	2.33;2.09;2.32;2.34	5.58	0.201	0.15186	.	0.164332	0.52532	D	0.000066	T	0.39036	0.1063	M	0.72118	2.19	0.45087	D	0.998108	D;D;D;D	0.89917	1.0;0.998;0.998;0.998	D;D;D;D	0.83275	0.996;0.99;0.99;0.99	T	0.10268	-1.0637	10	0.48119	T	0.1	-20.9579	9.2318	0.37441	0.4729:0.0:0.5271:0.0	.	315;468;468;468	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	D	468;468;468;315	ENSP00000388731:E468D;ENSP00000314669:E468D;ENSP00000387319:E468D;ENSP00000409867:E315D	ENSP00000314669:E468D	E	+	3	2	SSFA2	182475429	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.951000	0.29135	0.154000	0.19237	-0.290000	0.09829	GAA		0.368	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		27	34	0	0	0	1	0	27	34				
ZFR	51663	broad.mit.edu	37	5	32403220	32403220	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32403220T>A	ENST00000265069.8	-	8	1609	c.1507A>T	c.(1507-1509)Aat>Tat	p.N503Y		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	503					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CCAACAAAATTTATTTTGGGG	0.418																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(1507-1509)Aat>Tat		zinc finger RNA binding protein							107.0	107.0	107.0					5																	32403220		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32403220T>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1507A>T	5.37:g.32403220T>A	ENSP00000265069:p.Asn503Tyr						p.N503Y	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	8	1609	-			503					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.1507A>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.161168	0.57368	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05925	3.37	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	L	0.43152	1.355	0.80722	D	1	P	0.50943	0.94	P	0.44732	0.459	T	0.01583	-1.1319	10	0.72032	D	0.01	.	16.0067	0.80367	0.0:0.0:0.0:1.0	.	503	Q96KR1	ZFR_HUMAN	Y	503;481	ENSP00000265069:N503Y	ENSP00000265069:N503Y	N	-	1	0	ZFR	32438977	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.747000	0.85070	2.187000	0.69744	0.402000	0.26972	AAT		0.418	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			23	33	0	0	0	1	0	23	33				
TBL1XR1	79718	broad.mit.edu	37	3	176769356	176769356	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:176769356T>G	ENST00000430069.1	-	5	622	c.363A>C	c.(361-363)caA>caC	p.Q121H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q121H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	121					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTGCAGATCCTTGTTGGCTGG	0.448																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(361-363)caA>caC		transducin (beta)-like 1 X-linked receptor 1							78.0	75.0	76.0					3																	176769356		1849	4094	5943	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176769356T>G	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.363A>C	3.37:g.176769356T>G	ENSP00000405574:p.Gln121His					TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q121H	p.Q121H			Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		5	622	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	121					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.363A>C	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.049698	0.36181	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758;ENST00000428970;ENST00000424913;ENST00000352800;ENST00000437738;ENST00000431421	T;T	0.52983	0.64;0.64	5.52	-4.9	0.03094	.	0.283344	0.35772	N	0.002995	T	0.37652	0.1011	L	0.44542	1.39	0.42879	D	0.99416	P	0.39131	0.661	B	0.40534	0.332	T	0.29243	-1.0018	10	0.40728	T	0.16	-2.3662	15.2079	0.73195	0.0:0.5979:0.0:0.4021	.	121	Q9BZK7	TBL1R_HUMAN	H	121;121;34;34;34;121;121;34	ENSP00000405574:Q121H;ENSP00000413251:Q121H	ENSP00000263964:Q121H	Q	-	3	2	TBL1XR1	178252050	0.563000	0.26594	0.840000	0.33206	0.558000	0.35554	-0.001000	0.12947	-0.776000	0.04578	-0.479000	0.04858	CAA		0.448	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		30	53	0	0	0	1	0	30	53				
DHX57	90957	broad.mit.edu	37	2	39095357	39095357	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39095357A>C	ENST00000295373.6	-	2	317	c.191T>G	c.(190-192)tTt>tGt	p.F64C	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	64							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAAGATACAAAAGTCATCTCC	0.468																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(190-192)tTt>tGt		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							121.0	115.0	117.0					2																	39095357		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095357A>C	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.191T>G	2.37:g.39095357A>C	ENSP00000295373:p.Phe64Cys						p.F64C	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	317	-		all_hematologic(82;0.248)	64					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.191T>G	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085442	0.76642	.	.	ENSG00000163214	ENST00000295373	T	0.02890	4.12	4.39	4.39	0.52855	.	0.000000	0.47852	D	0.000211	T	0.05410	0.0143	N	0.08118	0	0.44380	D	0.997287	D;D	0.89917	1.0;0.997	D;P	0.74023	0.982;0.808	T	0.56721	-0.7932	10	0.66056	D	0.02	.	13.0277	0.58825	1.0:0.0:0.0:0.0	.	64;64	Q6P158-2;Q6P158	.;DHX57_HUMAN	C	64	ENSP00000295373:F64C	ENSP00000295373:F64C	F	-	2	0	DHX57	38948861	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.946000	0.75953	1.864000	0.54056	0.449000	0.29647	TTT		0.468	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		24	72	0	0	0	1	0	24	72				
PNPO	55163	broad.mit.edu	37	17	46022057	46022057	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:46022057C>T	ENST00000225573.4	+	3	444	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PNPO_ENST00000434554.2_Silent_p.F113F|PNPO_ENST00000534893.1_Silent_p.F18F|PNPO_ENST00000544840.1_Silent_p.F113F|RP11-6N17.6_ENST00000580372.1_RNA|RP11-6N17.6_ENST00000582142.1_RNA|RP11-6N17.9_ENST00000582262.1_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	113					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						TCACTAACTTCGAGAGTCGAA	0.507																																						ENST00000225573.4																			0				endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						c.(337-339)ttC>ttT		pyridoxamine 5'-phosphate oxidase	Pyridoxal Phosphate(DB00114)						151.0	148.0	149.0					17																	46022057		2203	4300	6503	SO:0001819	synonymous_variant	55163				pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity	g.chr17:46022057C>T	AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.339C>T	17.37:g.46022057C>T						PNPO_ENST00000544840.1_Silent_p.F113F|PNPO_ENST00000434554.2_Silent_p.F113F|PNPO_ENST00000534893.1_Silent_p.F18F	p.F113F	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN			3	444	+			113					B4E0V0|B4E152|B4E1D7|D3DTT9	Silent	SNP	ENST00000225573.4	37	c.339C>T	CCDS11522.1																																																																																				0.507	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1	NM_018129		50	92	0	0	0	1	0	50	92				
LBP	3929	broad.mit.edu	37	20	36999943	36999943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36999943G>T	ENST00000217407.2	+	12	1398	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	413					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGAACTGAAAGAATCCAAAGT	0.383																																						ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(1237-1239)Gaa>Taa		lipopolysaccharide binding protein							87.0	86.0	86.0					20																	36999943		2203	4300	6503	SO:0001587	stop_gained	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36999943G>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1237G>T	20.37:g.36999943G>T	ENSP00000217407:p.Glu413*						p.E413*	NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			12	1398	+		Myeloproliferative disorder(115;0.00878)	413					B2R938|O43438|Q92672|Q9H403|Q9UD66	Nonsense_Mutation	SNP	ENST00000217407.2	37	c.1237G>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	37	6.377524	0.97520	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	.	.	.	5.17	3.11	0.35812	.	0.166491	0.41194	D	0.000922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.0533	11.9756	0.53089	0.0:0.3333:0.6667:0.0	.	.	.	.	X	413	.	ENSP00000217407:E413X	E	+	1	0	LBP	36433357	1.000000	0.71417	0.995000	0.50966	0.916000	0.54674	2.482000	0.45224	1.394000	0.46624	0.462000	0.41574	GAA		0.383	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		4	29	1	0	0.150653	1	0.151842	4	29				
LPAR3	23566	broad.mit.edu	37	1	85331550	85331550	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:85331550A>C	ENST00000440886.1	-	1	292	c.254T>G	c.(253-255)tTc>tGc	p.F85C	LPAR3_ENST00000370611.3_Missense_Mutation_p.F85C|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	85					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAACATCAGGAATACATAGGC	0.463																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(253-255)tTc>tGc		lysophosphatidic acid receptor 3							117.0	121.0	120.0					1																	85331550		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331550A>C	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.254T>G	1.37:g.85331550A>C	ENSP00000395389:p.Phe85Cys					LPAR3_ENST00000370611.3_Missense_Mutation_p.F85C|LPAR3_ENST00000491034.1_5'UTR	p.F85C			Q9UBY5	LPAR3_HUMAN			1	292	-			85					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.254T>G	CCDS700.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233195	0.58777	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.40476	1.03;1.03	5.62	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.203404	0.53938	D	0.000058	T	0.38532	0.1044	M	0.73962	2.25	0.42711	D	0.993642	P	0.48764	0.915	P	0.52957	0.714	T	0.24297	-1.0164	10	0.38643	T	0.18	.	10.683	0.45826	0.6117:0.0:0.0:0.3883	.	85	Q9UBY5	LPAR3_HUMAN	C	85	ENSP00000395389:F85C;ENSP00000359643:F85C	ENSP00000359643:F85C	F	-	2	0	LPAR3	85104138	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.066000	0.50002	0.055000	0.16094	0.482000	0.46254	TTC		0.463	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		82	124	0	0	0	1	0	82	124				
GJA10	84694	broad.mit.edu	37	6	90605648	90605648	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:90605648G>A	ENST00000369352.1	+	1	1461	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CAGCCCTACCGATCATGGAAC	0.478																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(1459-1461)ccG>ccA		gap junction protein, alpha 10, 62kDa							132.0	126.0	128.0					6																	90605648		2203	4300	6503	SO:0001819	synonymous_variant	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605648G>A	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1461G>A	6.37:g.90605648G>A							p.P487P	NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	1461	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	487					B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000369352.1	37	c.1461G>A	CCDS5025.1																																																																																				0.478	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		39	76	0	0	0	1	0	39	76				
SLCO4C1	353189	broad.mit.edu	37	5	101583039	101583039	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101583039T>C	ENST00000310954.6	-	10	2014	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATATGGGCAGTTTCGCACAAT	0.363																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1726-1728)aaA>aaG		solute carrier organic anion transporter family, member 4C1							122.0	132.0	128.0					5																	101583039		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101583039T>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1728A>G	5.37:g.101583039T>C							p.K576K	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	10	2014	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	576						Silent	SNP	ENST00000310954.6	37	c.1728A>G	CCDS34205.1																																																																																				0.363	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		30	58	0	0	0	1	0	30	58				
CLTB	1212	broad.mit.edu	37	5	175824668	175824668	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175824668T>C	ENST00000310418.4	-	4	609	c.404A>G	c.(403-405)gAc>gGc	p.D135G	CLTB_ENST00000345807.2_Missense_Mutation_p.D135G	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	135	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CTCCTCCAGGTCCTTCTTGGC	0.552																																						ENST00000310418.4																			0				lung(1)	1						c.(403-405)gAc>gGc		clathrin, light chain B							184.0	171.0	175.0					5																	175824668		2203	4300	6503	SO:0001583	missense	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175824668T>C	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.404A>G	5.37:g.175824668T>C	ENSP00000309415:p.Asp135Gly					CLTB_ENST00000345807.2_Missense_Mutation_p.D135G	p.D135G	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	4	609	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	135			Involved in binding clathrin heavy chain.		Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	c.404A>G	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	t	14.99	2.699864	0.48307	.	.	ENSG00000175416	ENST00000310418;ENST00000345807	.	.	.	4.0	4.0	0.46444	.	0.053840	0.64402	U	0.000001	T	0.59046	0.2165	L	0.58101	1.795	0.58432	D	0.999997	B;B	0.25105	0.074;0.118	B;B	0.27796	0.059;0.083	T	0.61397	-0.7071	9	0.56958	D	0.05	.	12.9401	0.58337	0.0:0.0:0.0:1.0	.	135;135	P09497-2;P09497	.;CLCB_HUMAN	G	135	.	ENSP00000309415:D135G	D	-	2	0	CLTB	175757274	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.276000	0.72601	1.448000	0.47680	0.248000	0.18094	GAC		0.552	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			6	78	0	0	0	1	0	6	78				
DYNC2H1	79659	broad.mit.edu	37	11	103027492	103027492	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103027492G>A	ENST00000375735.2	+	26	4264	c.4120G>A	c.(4120-4122)Gat>Aat	p.D1374N	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1374N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1374	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTTGATGAAGATTTTAGGTC	0.338																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(4120-4122)Gat>Aat		dynein, cytoplasmic 2, heavy chain 1							56.0	54.0	55.0					11																	103027492		1840	4086	5926	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027492G>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4120G>A	11.37:g.103027492G>A	ENSP00000364887:p.Asp1374Asn					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1374N	p.D1374N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	4264	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1374			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.4120G>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.748996	0.69533	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.60548	0.18;0.18	5.27	5.27	0.74061	Dynein heavy chain, domain-2 (1);	0.426262	0.19685	N	0.108420	T	0.58148	0.2102	M	0.62209	1.925	0.58432	D	0.999991	P;P	0.39748	0.529;0.686	B;B	0.41202	0.35;0.322	T	0.58831	-0.7567	10	0.38643	T	0.18	.	14.1461	0.65351	0.0742:0.0:0.9258:0.0	.	1374;1374	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	N	1374	ENSP00000364887:D1374N;ENSP00000381167:D1374N	ENSP00000364887:D1374N	D	+	1	0	DYNC2H1	102532702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.372000	0.79612	2.472000	0.83506	0.563000	0.77884	GAT		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		19	35	0	0	0	1	0	19	35				
SDK2	54549	broad.mit.edu	37	17	71390374	71390374	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:71390374G>A	ENST00000392650.3	-	26	3682	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1228C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1228	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGCCCGTTGCGATCAGCCTCG	0.657																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(3682-3684)Cgc>Tgc		sidekick cell adhesion molecule 2							42.0	37.0	38.0					17																	71390374		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71390374G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3682C>T	17.37:g.71390374G>A	ENSP00000376421:p.Arg1228Cys					SDK2_ENST00000388726.3_Missense_Mutation_p.R1228C	p.R1228C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			26	3682	-			1228			Fibronectin type-III 7.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3682C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170958	0.21621	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57907	0.37;0.37;0.37	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055776	0.64402	D	0.000001	T	0.44767	0.1309	L	0.46614	1.455	0.58432	D	0.999999	B;B;B	0.31054	0.257;0.306;0.261	B;B;B	0.24269	0.049;0.052;0.031	T	0.47058	-0.9146	10	0.56958	D	0.05	.	13.0785	0.59100	0.0799:0.0:0.9201:0.0	.	1228;1228;1228	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	C	852;1228;1228;404;1228	ENSP00000376421:R1228C;ENSP00000373378:R1228C;ENSP00000407098:R404C	ENSP00000324967:R1228C	R	-	1	0	SDK2	68901969	0.665000	0.27466	0.951000	0.38953	0.024000	0.10985	2.830000	0.48136	2.426000	0.82243	0.313000	0.20887	CGC		0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		8	15	0	0	0	1	0	8	15				
ZFPM2	23414	broad.mit.edu	37	8	106811074	106811074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:106811074G>T	ENST00000407775.2	+	7	1112	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E156*|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E19*|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E156*	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	288					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAGGAAAATGAAGACAGTGC	0.517																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(862-864)Gaa>Taa		zinc finger protein, FOG family member 2							123.0	128.0	127.0					8																	106811074		2088	4235	6323	SO:0001587	stop_gained	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106811074G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.862G>T	8.37:g.106811074G>T	ENSP00000384179:p.Glu288*					ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E19*|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E156*|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E156*|RP11-152P17.2_ENST00000520433.1_RNA	p.E288*	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	1112	+			288					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	ENST00000407775.2	37	c.862G>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	38	6.861811	0.97893	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	6.06	6.06	0.98353	.	0.045590	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	288;156;156;19	.	ENSP00000367733:E19X	E	+	1	0	ZFPM2	106880250	1.000000	0.71417	0.976000	0.42696	0.962000	0.63368	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GAA		0.517	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			36	88	1	0	2.40579e-17	1	3.22781e-17	36	88				
RSAD2	91543	broad.mit.edu	37	2	7030405	7030405	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:7030405C>T	ENST00000382040.3	+	4	973	c.837C>T	c.(835-837)ttC>ttT	p.F279F	RSAD2_ENST00000541728.1_Silent_p.F172F	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTGAAAGATTCTTGGAGCGCC	0.393																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(835-837)ttC>ttT		radical S-adenosyl methionine domain containing 2							116.0	113.0	114.0					2																	7030405		2203	4300	6503	SO:0001819	synonymous_variant	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7030405C>T	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.837C>T	2.37:g.7030405C>T						RSAD2_ENST00000541728.1_Silent_p.F172F	p.F279F	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	4	973	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		279						Silent	SNP	ENST00000382040.3	37	c.837C>T	CCDS1656.1																																																																																				0.393	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		19	35	0	0	0	1	0	19	35				
DNAH2	146754	broad.mit.edu	37	17	7733753	7733753	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7733753A>C	ENST00000572933.1	+	78	13449	c.11989A>C	c.(11989-11991)Aag>Cag	p.K3997Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.K3997Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3997	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAACGCAAAAAGTTCCTGCA	0.478																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(11989-11991)Aag>Cag		dynein, axonemal, heavy chain 2							124.0	122.0	123.0					17																	7733753		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7733753A>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11989A>C	17.37:g.7733753A>C	ENSP00000458355:p.Lys3997Gln					DNAH2_ENST00000389173.2_Missense_Mutation_p.K3997Q	p.K3997Q			Q9P225	DYH2_HUMAN			78	13449	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3997			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11989A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460549	0.84317	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.11385	2.78	5.55	5.55	0.83447	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.48714	-0.9011	10	0.72032	D	0.01	.	14.8147	0.70024	1.0:0.0:0.0:0.0	.	3958;3997	Q9P225-2;Q9P225	.;DYH2_HUMAN	Q	3958;3997	ENSP00000373825:K3997Q	ENSP00000353818:K3958Q	K	+	1	0	DNAH2	7674478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.814000	0.75236	2.333000	0.79357	0.533000	0.62120	AAG		0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		35	71	0	0	0	1	0	35	71				
MAGEA11	4110	broad.mit.edu	37	X	148797840	148797840	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:148797840T>G	ENST00000355220.5	+	5	796	c.694T>G	c.(694-696)Tta>Gta	p.L232V	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L203V	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	232	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTGGTTCATTTATTGCTCCG	0.438																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(694-696)Tta>Gta		melanoma antigen family A, 11							115.0	116.0	116.0					X																	148797840		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797840T>G		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.694T>G	X.37:g.148797840T>G	ENSP00000347358:p.Leu232Val					MAGEA11_ENST00000333104.4_Missense_Mutation_p.L203V	p.L232V	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	796	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		232			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.694T>G	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	8.805	0.933821	0.18206	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.06768	3.26;3.26;3.26	0.976	0.976	0.19727	.	.	.	.	.	T	0.14399	0.0348	M	0.65498	2.005	0.09310	N	1	B;B	0.32862	0.2;0.387	B;P	0.45276	0.157;0.475	T	0.33471	-0.9867	9	0.87932	D	0	.	3.8937	0.09130	0.0:0.0:0.0:1.0	.	203;232	G5E962;P43364	.;MAGAB_HUMAN	V	203;203;232	ENSP00000391496:L203V;ENSP00000328177:L203V;ENSP00000347358:L232V	ENSP00000328177:L203V	L	+	1	2	MAGEA11	148576565	0.005000	0.15991	0.002000	0.10522	0.040000	0.13550	0.610000	0.24253	0.629000	0.30376	0.350000	0.21858	TTA		0.438	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		47	88	0	0	0	1	0	47	88				
SGOL2	151246	broad.mit.edu	37	2	201436810	201436810	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201436810T>G	ENST00000357799.4	+	7	1839	c.1741T>G	c.(1741-1743)Tta>Gta	p.L581V		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	581					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TAATGGAAATTTATGTGATTA	0.328																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1741-1743)Tta>Gta		shugoshin-like 2 (S. pombe)							57.0	57.0	57.0					2																	201436810		1827	4076	5903	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436810T>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1741T>G	2.37:g.201436810T>G	ENSP00000350447:p.Leu581Val						p.L581V	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	1839	+			581					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1741T>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.100919	0.37048	.	.	ENSG00000163535	ENST00000357799	T	0.11821	2.74	5.25	-3.1	0.05315	.	0.606071	0.13448	N	0.387151	T	0.19927	0.0479	L	0.46157	1.445	0.09310	N	1	D;D;B	0.71674	0.998;0.998;0.312	D;D;B	0.83275	0.996;0.996;0.064	T	0.14839	-1.0458	10	0.25751	T	0.34	1.1389	4.3312	0.11064	0.0879:0.1993:0.4507:0.2621	.	581;581;581	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	V	581	ENSP00000350447:L581V	ENSP00000350447:L581V	L	+	1	2	SGOL2	201145055	0.004000	0.15560	0.021000	0.16686	0.968000	0.65278	-0.382000	0.07408	-0.345000	0.08325	0.477000	0.44152	TTA		0.328	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		24	52	0	0	0	1	0	24	52				
INA	9118	broad.mit.edu	37	10	105037959	105037959	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105037959G>A	ENST00000369849.4	+	1	1040	c.991G>A	c.(991-993)Ggg>Agg	p.G331R		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	331	Coil 2.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGGCCTGCGCGGGGCCAACGA	0.711																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(991-993)Ggg>Agg		internexin neuronal intermediate filament protein, alpha							13.0	12.0	12.0					10																	105037959		2194	4293	6487	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037959G>A	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.991G>A	10.37:g.105037959G>A	ENSP00000358865:p.Gly331Arg						p.G331R	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	1040	+			331			Coil 2.|Rod.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.991G>A	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861737	0.91433	.	.	ENSG00000148798	ENST00000369849	D	0.88741	-2.42	4.54	4.54	0.55810	Filament (1);	0.000000	0.85682	D	0.000000	D	0.94251	0.8154	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.94947	0.8096	10	0.87932	D	0	.	17.4425	0.87568	0.0:0.0:1.0:0.0	.	164;331	Q59EM6;Q16352	.;AINX_HUMAN	R	331	ENSP00000358865:G331R	ENSP00000358865:G331R	G	+	1	0	INA	105027949	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	3.925000	0.56484	2.508000	0.84585	0.561000	0.74099	GGG		0.711	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		5	11	0	0	0	1	0	5	11				
OR5B3	441608	broad.mit.edu	37	11	58170849	58170849	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58170849G>T	ENST00000309403.2	-	1	33	c.34C>A	c.(34-36)Ctt>Att	p.L12I		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTCCTAGAAGAATGAATTGT	0.388																																						ENST00000309403.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(34-36)Ctt>Att		olfactory receptor, family 5, subfamily B, member 3							118.0	115.0	116.0					11																	58170849		2198	4283	6481	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170849G>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.34C>A	11.37:g.58170849G>T	ENSP00000308270:p.Leu12Ile						p.L12I	NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN			1	33	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	12					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.34C>A	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	12.36	1.913328	0.33815	.	.	ENSG00000172769	ENST00000309403	T	0.00561	6.59	4.05	4.05	0.47172	.	0.000000	0.36002	N	0.002856	T	0.02119	0.0066	M	0.85462	2.755	0.09310	N	0.999999	D	0.71674	0.998	D	0.70716	0.97	T	0.14144	-1.0483	10	0.72032	D	0.01	-36.9998	10.6625	0.45710	0.0:0.0:0.8082:0.1918	.	12	Q8NH48	OR5B3_HUMAN	I	12	ENSP00000308270:L12I	ENSP00000308270:L12I	L	-	1	0	OR5B3	57927425	0.967000	0.33354	0.450000	0.26969	0.451000	0.32288	1.857000	0.39399	2.268000	0.75426	0.484000	0.47621	CTT		0.388	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		18	74	1	0	1.56452e-12	1	1.97515e-12	18	74				
C3P1	388503	broad.mit.edu	37	19	10169496	10169496	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10169496C>T	ENST00000495140.1	+	0	1896							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						AATTTGATGGCCAGCATCGAG	0.572																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13															56.0	58.0	58.0					19																	10169496		1884	4110	5994			0							g.chr19:10169496C>T	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10169496C>T														0	1896	+									RNA	SNP	ENST00000495140.1	37																																																																																						0.572	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		24	51	0	0	0	1	0	24	51				
CYP2A7	1549	broad.mit.edu	37	19	41386003	41386003	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:41386003T>C	ENST00000301146.4	-	4	1181	c.640A>G	c.(640-642)Acc>Gcc	p.T214A	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.T163A	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	214						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGTGGAGGTTGACGTGAAC	0.572																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(640-642)Acc>Gcc		cytochrome P450, family 2, subfamily A, polypeptide 7							107.0	92.0	97.0					19																	41386003		2203	4299	6502	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386003T>C	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.640A>G	19.37:g.41386003T>C	ENSP00000301146:p.Thr214Ala					CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.T163A	p.T214A	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	1181	-			214					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.640A>G	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	t	10.36	1.329942	0.24167	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.68331	-0.32;-0.32	2.16	-4.32	0.03688	.	0.255650	0.36893	U	0.002345	T	0.44329	0.1288	N	0.21324	0.655	0.09310	N	1	P;P;B	0.40553	0.502;0.721;0.182	B;B;B	0.42030	0.302;0.373;0.221	T	0.46512	-0.9186	10	0.72032	D	0.01	.	3.4742	0.07578	0.3127:0.1167:0.0:0.5706	.	214;163;214	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	A	214;163	ENSP00000301146:T214A;ENSP00000291764:T163A	ENSP00000291764:T163A	T	-	1	0	CYP2A7	46077843	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.117000	0.10708	-1.141000	0.02873	-1.522000	0.00932	ACC		0.572	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		37	70	0	0	0	1	0	37	70				
PTCHD1	139411	broad.mit.edu	37	X	23397857	23397857	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:23397857T>C	ENST00000379361.4	+	2	1361	c.501T>C	c.(499-501)aaT>aaC	p.N167N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	167					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GGGCCACCAATCGGACCAATT	0.488																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(499-501)aaT>aaC		patched domain containing 1							100.0	86.0	91.0					X																	23397857		2203	4300	6503	SO:0001819	synonymous_variant	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23397857T>C	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.501T>C	X.37:g.23397857T>C							p.N167N	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1361	+			167					B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	c.501T>C	CCDS35215.2																																																																																				0.488	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		27	132	0	0	0	1	0	27	132				
PCDHGB2	56103	broad.mit.edu	37	5	140740546	140740546	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140740546C>A	ENST00000522605.1	+	1	844	c.844C>A	c.(844-846)Cat>Aat	p.H282N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTCCTTTCATAATGTGGA	0.453																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(844-846)Cat>Aat									43.0	43.0	43.0					5																	140740546		1958	4145	6103	SO:0001583	missense	0							g.chr5:140740546C>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.844C>A	5.37:g.140740546C>A	ENSP00000429018:p.His282Asn					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.H282N	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	844	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.844C>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.649046	0.00785	.	.	ENSG00000253910	ENST00000522605	T	0.50813	0.73	5.54	3.77	0.43336	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31702	0.0805	N	0.11064	0.09	0.09310	N	1	B;B	0.29432	0.101;0.244	B;B	0.38755	0.015;0.281	T	0.33523	-0.9865	9	0.27082	T	0.32	.	7.4945	0.27481	0.0:0.6142:0.2299:0.156	.	282;282	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	N	282	ENSP00000429018:H282N	ENSP00000429018:H282N	H	+	1	0	PCDHGB2	140720730	0.000000	0.05858	0.993000	0.49108	0.008000	0.06430	-0.399000	0.07250	0.816000	0.34421	-0.136000	0.14681	CAT		0.453	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		4	32	1	0	0.00909568	1	0.00935351	4	32				
FAM45A	404636	broad.mit.edu	37	10	120877030	120877030	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120877030G>A	ENST00000361432.2	+	4	358		c.e4-1		FAM45A_ENST00000489988.1_Splice_Site|FAM45A_ENST00000535029.1_Splice_Site|FAM45A_ENST00000544016.1_Intron	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A											breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CTTTCTTACAGAATGTACCTG	0.443																																						ENST00000361432.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14						c.e4-1		family with sequence similarity 45, member A							119.0	116.0	117.0					10																	120877030		2203	4300	6503	SO:0001630	splice_region_variant	404636							g.chr10:120877030G>A	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.333-1G>A	10.37:g.120877030G>A						FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_Splice_Site|FAM45A_ENST00000535029.1_Splice_Site		NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	4	358	+		Lung NSC(174;0.094)|all_lung(145;0.123)						B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Splice_Site	SNP	ENST00000361432.2	37		CCDS7609.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650573	0.47362	.	.	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3756	0.90435	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM45A	120867020	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.916000	0.92745	2.780000	0.95670	0.585000	0.79938	.		0.443	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009	Intron	42	71	0	0	0	1	0	42	71				
SEPT14	346288	broad.mit.edu	37	7	55873084	55873084	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:55873084C>A	ENST00000388975.3	-	9	1103		c.e9-1			NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCTTGAAAACTAAAGAGAAA	0.398																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.e9-1		septin 14							44.0	40.0	42.0					7																	55873084		2198	4295	6493	SO:0001630	splice_region_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55873084C>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.987-1G>T	7.37:g.55873084C>A								NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		9	1103	-	Breast(14;0.214)							A6NCC2|B4DXD6	Splice_Site	SNP	ENST00000388975.3	37		CCDS5519.2	.	.	.	.	.	.	.	.	.	.	c	16.37	3.105599	0.56291	.	.	ENSG00000154997	ENST00000388975	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.32	0.54979	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEPT14	55840578	1.000000	0.71417	0.992000	0.48379	0.824000	0.46624	5.980000	0.70516	2.012000	0.59069	0.650000	0.86243	.		0.398	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	Intron	4	11	1	0	0.00909568	1	0.00935351	4	11				
ITGA4	3676	broad.mit.edu	37	2	182350655	182350655	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182350655A>G	ENST00000397033.2	+	10	1519	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	363					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.K363N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAAGTGACAAATATGCTGCAA	0.368																																						ENST00000397033.2																			1	Substitution - Missense(1)	p.K363N(1)	ovary(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1087-1089)aaA>aaG		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						170.0	160.0	163.0					2																	182350655		1862	4107	5969	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182350655A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1089A>G	2.37:g.182350655A>G							p.K363K	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		10	1519	+			363					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1089A>G	CCDS42788.1																																																																																				0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			27	44	0	0	0	1	0	27	44				
OR11H6	122748	broad.mit.edu	37	14	20692492	20692492	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20692492C>A	ENST00000315519.2	+	1	702	c.624C>A	c.(622-624)atC>atA	p.I208I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGGCCTGCATCTCTGCTCCTT	0.498																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(622-624)atC>atA		olfactory receptor, family 11, subfamily H, member 6							123.0	114.0	117.0					14																	20692492		2203	4300	6503	SO:0001819	synonymous_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692492C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.624C>A	14.37:g.20692492C>A							p.I208I	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	702	+	all_cancers(95;0.00108)		208					Q6IF08	Silent	SNP	ENST00000315519.2	37	c.624C>A	CCDS32033.1																																																																																				0.498	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			12	24	1	0	2.27111e-07	1	2.60515e-07	12	24				
MRPS33	51650	broad.mit.edu	37	7	140710232	140710232	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:140710232G>T	ENST00000393008.3	-	2	357	c.202C>A	c.(202-204)Ctt>Att	p.L68I	MRPS33_ENST00000472343.1_5'Flank|MRPS33_ENST00000496958.1_Missense_Mutation_p.L68I|MRPS33_ENST00000467334.1_Missense_Mutation_p.L58I|MRPS33_ENST00000324787.5_Missense_Mutation_p.L68I|MRPS33_ENST00000469351.1_Missense_Mutation_p.L68I	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	68					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					TAGAGTCCAAGAAATCGGAGC	0.413																																						ENST00000393008.3																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(202-204)Ctt>Att		mitochondrial ribosomal protein S33							134.0	130.0	131.0					7																	140710232		2203	4300	6503	SO:0001583	missense	51650				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr7:140710232G>T	AF078858	CCDS5864.1	7q34	2012-09-13			ENSG00000090263	ENSG00000090263		"""Mitochondrial ribosomal proteins / small subunits"""	16634	protein-coding gene	gene with protein product		611993				11279123, 10810093	Standard	NM_016071		Approved	CGI-139	uc003vwe.4	Q9Y291	OTTHUMG00000157456	ENST00000393008.3:c.202C>A	7.37:g.140710232G>T	ENSP00000376732:p.Leu68Ile					MRPS33_ENST00000469351.1_Missense_Mutation_p.L68I|MRPS33_ENST00000496958.1_Missense_Mutation_p.L68I|MRPS33_ENST00000324787.5_Missense_Mutation_p.L68I|MRPS33_ENST00000467334.1_Missense_Mutation_p.L58I	p.L68I	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN			2	357	-	Melanoma(164;0.00956)		68						Missense_Mutation	SNP	ENST00000393008.3	37	c.202C>A	CCDS5864.1	.	.	.	.	.	.	.	.	.	.	G	5.478	0.273144	0.10349	.	.	ENSG00000090263	ENST00000544013;ENST00000393008;ENST00000324787;ENST00000496958;ENST00000469351;ENST00000467334	.	.	.	5.1	-0.00987	0.13999	.	1.159410	0.06200	N	0.683063	T	0.36991	0.0987	L	0.54323	1.7	0.09310	N	1	B	0.27791	0.189	B	0.27380	0.079	T	0.34775	-0.9815	9	0.42905	T	0.14	-17.493	6.2568	0.20877	0.4156:0.1319:0.4525:0.0	.	68	Q9Y291	RT33_HUMAN	I	68;68;68;68;68;58	.	ENSP00000320567:L68I	L	-	1	0	MRPS33	140356701	0.213000	0.23551	0.011000	0.14972	0.198000	0.23893	0.070000	0.14573	0.132000	0.18615	0.467000	0.42956	CTT		0.413	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348878.1	NM_053035		23	38	1	0	4.7796e-09	1	5.70246e-09	23	38				
KPRP	448834	broad.mit.edu	37	1	152733586	152733586	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152733586C>A	ENST00000606109.1	+	1	1550	c.1522C>A	c.(1522-1524)Cca>Aca	p.P508T	KPRP_ENST00000368773.1_Missense_Mutation_p.P508T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	508	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCCAGTTCCATACCCAGG	0.632																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1522-1524)Cca>Aca		keratinocyte proline-rich protein							50.0	53.0	52.0					1																	152733586		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733586C>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1522C>A	1.37:g.152733586C>A	ENSP00000475216:p.Pro508Thr					KPRP_ENST00000606109.1_Missense_Mutation_p.P508T	p.P508T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1580	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		508			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1522C>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694584	0.48202	.	.	ENSG00000203786	ENST00000368773	T	0.29655	1.56	4.61	1.71	0.24356	.	0.490229	0.17471	N	0.173092	T	0.21718	0.0523	L	0.52573	1.65	0.09310	N	1	D	0.59357	0.985	P	0.55824	0.785	T	0.04128	-1.0975	10	0.62326	D	0.03	-0.7164	6.5107	0.22220	0.0:0.6065:0.0:0.3935	.	508	Q5T749	KPRP_HUMAN	T	508	ENSP00000357762:P508T	ENSP00000357762:P508T	P	+	1	0	KPRP	151000210	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.986000	0.29590	0.285000	0.22329	0.462000	0.41574	CCA		0.632	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		28	60	1	0	2.41591e-17	1	3.2383e-17	28	60				
LRPPRC	10128	broad.mit.edu	37	2	44170828	44170828	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44170828T>G	ENST00000260665.7	-	23	2559	c.2502A>C	c.(2500-2502)gaA>gaC	p.E834D		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	834					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAACTTACTTTTCCAAGTGTA	0.338																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(2500-2502)gaA>gaC		leucine-rich pentatricopeptide repeat containing							106.0	106.0	106.0					2																	44170828		2203	4299	6502	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44170828T>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2502A>C	2.37:g.44170828T>G	ENSP00000260665:p.Glu834Asp						p.E834D	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			23	2559	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	834					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.2502A>C	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387382	0.42308	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56941	0.43	6.06	4.92	0.64577	.	0.339313	0.33327	N	0.005023	T	0.47764	0.1463	M	0.63843	1.955	0.80722	D	1	B;B	0.29988	0.174;0.264	B;B	0.29077	0.098;0.044	T	0.41502	-0.9505	10	0.35671	T	0.21	-8.2385	9.2682	0.37654	0.0:0.1375:0.0:0.8625	.	734;834	F5H4J6;P42704	.;LPPRC_HUMAN	D	734;834	ENSP00000260665:E834D	ENSP00000260665:E834D	E	-	3	2	LRPPRC	44024332	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.867000	0.39499	1.118000	0.41863	0.528000	0.53228	GAA		0.338	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		10	51	0	0	0	1	0	10	51				
CILP	8483	broad.mit.edu	37	15	65489882	65489882	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65489882G>T	ENST00000261883.4	-	9	2908	c.2742C>A	c.(2740-2742)ttC>ttA	p.F914L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	914					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAATCTGGTAGAACCGGAAGT	0.547																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(2740-2742)ttC>ttA		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							103.0	96.0	98.0					15																	65489882		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489882G>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2742C>A	15.37:g.65489882G>T	ENSP00000261883:p.Phe914Leu						p.F914L	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	2908	-			914					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2742C>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364733	0.61513	.	.	ENSG00000138615	ENST00000261883	T	0.10005	2.92	5.91	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.80422	2.495	0.53688	D	0.999971	D	0.71674	0.998	D	0.77004	0.989	T	0.04961	-1.0915	10	0.72032	D	0.01	-6.5168	7.7512	0.28898	0.243:0.0:0.757:0.0	.	914	O75339	CILP1_HUMAN	L	914	ENSP00000261883:F914L	ENSP00000261883:F914L	F	-	3	2	CILP	63276935	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.806000	0.47947	1.509000	0.48786	0.655000	0.94253	TTC		0.547	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		33	62	1	0	2.68265e-12	1	3.37613e-12	33	62				
EPHA4	2043	broad.mit.edu	37	2	222307707	222307707	+	Missense_Mutation	SNP	C	C	T	rs147566564		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:222307707C>T	ENST00000281821.2	-	11	1957	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	EPHA4_ENST00000409854.1_Missense_Mutation_p.R639H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R588H|EPHA4_ENST00000409938.1_Missense_Mutation_p.R639H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	639	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CACTTTGAGACGCCCACTGCA	0.448																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1915-1917)cGt>cAt		EPH receptor A4		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	126.0	122.0	123.0		1916	6.1	1.0	2	dbSNP_134	123	0,8600		0,0,4300	no	missense	EPHA4	NM_004438.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	639/987	222307707	2,13004	2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222307707C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1916G>A	2.37:g.222307707C>T	ENSP00000281821:p.Arg639His					EPHA4_ENST00000409938.1_Missense_Mutation_p.R639H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R639H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R588H	p.R639H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	11	1957	-		Renal(207;0.0183)	639			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1916G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868834	0.91587	4.54E-4	0.0	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73585	-0.3936	10	0.49607	T	0.09	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	639	P54764	EPHA4_HUMAN	H	639;639;639;588	ENSP00000281821:R639H;ENSP00000386276:R639H;ENSP00000386829:R639H;ENSP00000375923:R588H	ENSP00000281821:R639H	R	-	2	0	EPHA4	222015951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.070000	0.71220	2.882000	0.98803	0.655000	0.94253	CGT		0.448	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			16	44	0	0	0	1	0	16	44				
GGTLC1	92086	broad.mit.edu	37	20	23967198	23967198	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:23967198G>A	ENST00000335694.4	-	2	255	c.51C>T	c.(49-51)gaC>gaT	p.D17D	GGTLC1_ENST00000278765.4_Silent_p.D17D|GGTLC1_ENST00000286890.4_Silent_p.D17D	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	17					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGTGAGTGGTGTCGTCAGAGA	0.632																																						ENST00000335694.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(49-51)gaC>gaT		gamma-glutamyltransferase light chain 1							68.0	67.0	67.0					20																	23967198		2203	4298	6501	SO:0001819	synonymous_variant	92086						gamma-glutamyltransferase activity	g.chr20:23967198G>A	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.51C>T	20.37:g.23967198G>A						GGTLC1_ENST00000278765.4_Silent_p.D17D|GGTLC1_ENST00000286890.4_Silent_p.D17D	p.D17D	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	255	-			17					D3DW43|Q08246	Silent	SNP	ENST00000335694.4	37	c.51C>T	CCDS13163.1																																																																																				0.632	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		24	67	0	0	0	1	0	24	67				
PCDHB5	26167	broad.mit.edu	37	5	140515755	140515755	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140515755T>C	ENST00000231134.5	+	1	956	c.739T>C	c.(739-741)Tat>Cat	p.Y247H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	247	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATCATTCTATGAGGTACA	0.522																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(739-741)Tat>Cat									175.0	192.0	186.0					5																	140515755		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515755T>C	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.739T>C	5.37:g.140515755T>C	ENSP00000231134:p.Tyr247His						p.Y247H	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	956	+			247			Cadherin 3.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.739T>C	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.899488	0.52227	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.57273	0.41	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83285	0.5221	H	0.98276	4.19	0.46458	D	0.999052	D	0.89917	1.0	D	0.97110	1.0	D	0.90029	0.4133	9	0.87932	D	0	.	15.6541	0.77121	0.0:0.0:0.0:1.0	.	247	Q9Y5E4	PCDB5_HUMAN	H	247;31	ENSP00000231134:Y247H	ENSP00000231134:Y247H	Y	+	1	0	PCDHB5	140495939	1.000000	0.71417	0.913000	0.36048	0.214000	0.24535	6.069000	0.71209	2.166000	0.68216	0.454000	0.30748	TAT		0.522	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		25	275	0	0	0	1	0	25	275				
ABCB5	340273	broad.mit.edu	37	7	20685489	20685489	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:20685489G>T	ENST00000404938.2	+	8	1441	c.789G>T	c.(787-789)gaG>gaT	p.E263D	ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000406935.1_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	263	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGGCCCAGGAGAAAGAACTTC	0.403																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(787-789)gaG>gaT		ATP-binding cassette, sub-family B (MDR/TAP), member 5							138.0	130.0	133.0					7																	20685489		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20685489G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.789G>T	7.37:g.20685489G>T	ENSP00000384881:p.Glu263Asp						p.E263D	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			8	1441	+			449			ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.789G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977281	0.34848	.	.	ENSG00000004846	ENST00000404938	D	0.89939	-2.59	4.79	2.93	0.34026	.	.	.	.	.	T	0.81819	0.4903	L	0.35593	1.075	0.80722	D	1	B	0.06786	0.001	B	0.19666	0.026	T	0.74306	-0.3708	9	0.33940	T	0.23	.	9.2256	0.37405	0.1856:0.0:0.8144:0.0	.	263	A7BKA4	.	D	263	ENSP00000384881:E263D	ENSP00000384881:E263D	E	+	3	2	ABCB5	20652014	0.995000	0.38212	1.000000	0.80357	0.975000	0.68041	0.282000	0.18829	0.892000	0.36259	0.655000	0.94253	GAG		0.403	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		9	102	1	0	0.00448238	1	0.00465112	9	102				
BAHD1	22893	broad.mit.edu	37	15	40754371	40754371	+	Missense_Mutation	SNP	C	C	T	rs560381001	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:40754371C>T	ENST00000416165.1	+	3	1764	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.R565C|BAHD1_ENST00000561234.1_Missense_Mutation_p.R564C	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	565	Arg-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAAGGCTGCCCGCAGGCCTAG	0.692													c|||	3	0.000599042	0.0	0.0	5008	,	,		14765	0.0		0.0	False		,,,				2504	0.0031					ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1690-1692)Cgc>Tgc		bromo adjacent homology domain containing 1							45.0	48.0	47.0					15																	40754371		2202	4299	6501	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40754371C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1693C>T	15.37:g.40754371C>T	ENSP00000396976:p.Arg565Cys					BAHD1_ENST00000416165.1_Missense_Mutation_p.R565C|BAHD1_ENST00000560846.1_Missense_Mutation_p.R565C	p.R564C			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	3	1949	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	565			Arg-rich.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1690C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	9.909	1.209086	0.22205	.	.	ENSG00000140320	ENST00000416165	T	0.19105	2.17	5.83	3.75	0.43078	.	0.483471	0.24345	N	0.039327	T	0.08891	0.0220	N	0.08118	0	0.29018	N	0.886441	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.08249	-1.0731	10	0.51188	T	0.08	-10.0184	2.5848	0.04828	0.2819:0.443:0.1793:0.0959	.	565;565;564	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	C	565	ENSP00000396976:R565C	ENSP00000396976:R565C	R	+	1	0	BAHD1	38541663	0.012000	0.17670	1.000000	0.80357	0.389000	0.30415	0.523000	0.22925	1.407000	0.46875	0.585000	0.79938	CGC		0.692	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		39	59	0	0	0	1	0	39	59				
TRIM5	85363	broad.mit.edu	37	11	5699533	5699533	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5699533C>T	ENST00000380034.3	-	4	901	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_ENST00000305836.5_Silent_p.T215T|TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000380027.1_Silent_p.T215T|TRIM5_ENST00000396847.3_Silent_p.T215T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	215					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCAGAGTTCGTAAGGCTTT	0.527																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(643-645)acG>acA		tripartite motif containing 5							129.0	111.0	117.0					11																	5699533		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5699533C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.645G>A	11.37:g.5699533C>T						TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000380034.3_Silent_p.T215T|TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Silent_p.T215T	p.T215T			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	947	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	215					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.645G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	-0.944	0.10392	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	0.4029	0.00428	0.1969:0.202:0.1595:0.4417	.	.	.	.	Q	92	.	.	R	-	2	0	TRIM5	5656109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.187000	0.00566	-0.007000	0.14345	-1.326000	0.01283	CGA		0.527	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		8	50	0	0	0	1	0	8	50				
SLC30A9	10463	broad.mit.edu	37	4	42024887	42024887	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:42024887G>A	ENST00000264451.7	+	5	647	c.467G>A	c.(466-468)cGa>cAa	p.R156Q		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	156					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCAGACGACGAAGTCCCCAT	0.328																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(466-468)cGa>cAa		solute carrier family 30 (zinc transporter), member 9							87.0	93.0	91.0					4																	42024887		2203	4299	6502	SO:0001583	missense	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42024887G>A	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.467G>A	4.37:g.42024887G>A	ENSP00000264451:p.Arg156Gln						p.R156Q	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			5	647	+			156					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	c.467G>A	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219741	0.95139	.	.	ENSG00000014824	ENST00000264451	T	0.56611	0.45	5.72	4.88	0.63580	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.75199	-0.3402	10	0.87932	D	0	-12.3593	14.8238	0.70094	0.0692:0.0:0.9308:0.0	.	156	Q6PML9	ZNT9_HUMAN	Q	156	ENSP00000264451:R156Q	ENSP00000264451:R156Q	R	+	2	0	SLC30A9	41719644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.291000	0.96070	1.425000	0.47237	0.555000	0.69702	CGA		0.328	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			15	25	0	0	0	1	0	15	25				
FAM107B	83641	broad.mit.edu	37	10	14709678	14709678	+	Nonsense_Mutation	SNP	G	G	A	rs111681891		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14709678G>A	ENST00000181796.2	-	2	657	c.424C>T	c.(424-426)Cga>Tga	p.R142*		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	74					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTCTTCTCGAAATTCTTCT	0.423																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(424-426)Cga>Tga		family with sequence similarity 107, member B							124.0	113.0	117.0					10																	14709678		2203	4300	6503	SO:0001587	stop_gained	83641							g.chr10:14709678G>A	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.424C>T	10.37:g.14709678G>A	ENSP00000181796:p.Arg142*						p.R142*	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			2	657	-			74					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Nonsense_Mutation	SNP	ENST00000181796.2	37	c.424C>T	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121583	0.56613	.	.	ENSG00000065809	ENST00000181796	.	.	.	4.52	4.52	0.55395	.	0.873774	0.09578	N	0.783258	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	12.9327	0.58296	0.0:0.0:1.0:0.0	.	.	.	.	X	142	.	ENSP00000181796:R142X	R	-	1	2	FAM107B	14749684	0.221000	0.23642	0.429000	0.26710	0.190000	0.23558	4.235000	0.58666	2.518000	0.84900	0.555000	0.69702	CGA		0.423	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		16	21	0	0	0	1	0	16	21				
MANSC1	54682	broad.mit.edu	37	12	12491458	12491458	+	Missense_Mutation	SNP	C	C	T	rs139772377		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12491458C>T	ENST00000535902.1	-	3	823	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	MANSC1_ENST00000545735.1_Missense_Mutation_p.R6Q|MANSC1_ENST00000396349.3_Missense_Mutation_p.R53Q			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	87	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGCTGTTTTTCGAGTGTCGAA	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18736	0.0		0.0	False		,,,				2504	0.0					ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(259-261)cGa>cAa		MANSC domain containing 1		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	180.0	175.0	177.0		260	4.8	1.0	12	dbSNP_134	177	0,8600		0,0,4300	no	missense	MANSC1	NM_018050.2	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	87/432	12491458	2,13004	2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12491458C>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.260G>A	12.37:g.12491458C>T	ENSP00000438205:p.Arg87Gln					MANSC1_ENST00000396349.3_Missense_Mutation_p.R53Q|MANSC1_ENST00000545735.1_Missense_Mutation_p.R6Q	p.R87Q			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	3	823	-		Prostate(47;0.0865)	87			MANSC.		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.260G>A	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843723	0.51164	4.54E-4	0.0	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.21191	2.02;2.02;2.02	5.68	4.8	0.61643	Seven cysteines (1);Seven cysteines, N-terminal (2);	0.289012	0.18695	N	0.133755	T	0.24236	0.0587	N	0.22421	0.69	0.36791	D	0.88483	D;D;P	0.71674	0.998;0.996;0.896	P;P;B	0.58013	0.831;0.726;0.3	T	0.11641	-1.0579	10	0.23891	T	0.37	-2.0755	10.6466	0.45623	0.0:0.912:0.0:0.088	.	21;53;87	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	Q	87;53;6;6	ENSP00000438205:R87Q;ENSP00000379638:R53Q;ENSP00000445303:R6Q	ENSP00000347765:R6Q	R	-	2	0	MANSC1	12382725	0.991000	0.36638	0.989000	0.46669	0.583000	0.36354	1.408000	0.34668	1.409000	0.46915	0.563000	0.77884	CGA		0.403	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		12	77	0	0	0	1	0	12	77				
KMT2C	58508	broad.mit.edu	37	7	151873887	151873887	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151873887C>T	ENST00000262189.6	-	38	8869	c.8651G>A	c.(8650-8652)cGa>cAa	p.R2884Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2884Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2884					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGCAGTTTCTCGATTGGTTCT	0.438																																						ENST00000355193.2																			0											c.(8650-8652)cGa>cAa		lysine (K)-specific methyltransferase 2C							97.0	95.0	95.0					7																	151873887		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151873887C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8651G>A	7.37:g.151873887C>T	ENSP00000262189:p.Arg2884Gln					KMT2C_ENST00000262189.6_Missense_Mutation_p.R2884Q	p.R2884Q							38	8869	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.8651G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	0.639	-0.814018	0.02798	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.71	4.91	-7.08	0.01558	.	1.064460	0.07524	N	0.911115	T	0.52468	0.1736	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.12013	0.005;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.53535	-0.8425	10	0.02654	T	1	.	3.2656	0.06864	0.2134:0.1097:0.1075:0.5695	.	2884;1945;2884	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	Q	2884	ENSP00000262189:R2884Q;ENSP00000347325:R2884Q	ENSP00000262189:R2884Q	R	-	2	0	MLL3	151504820	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.224000	0.17738	-1.403000	0.02053	-2.093000	0.00369	CGA		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			18	37	0	0	0	1	0	18	37				
AHNAK2	113146	broad.mit.edu	37	14	105407539	105407539	+	Missense_Mutation	SNP	G	G	A	rs200690287	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105407539G>A	ENST00000333244.5	-	7	14368	c.14249C>T	c.(14248-14250)tCg>tTg	p.S4750L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4750						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S4750L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAACAAGCCGAAACCTGTTG	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20402	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			1	Substitution - Missense(1)	p.S4750L(1)	kidney(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14248-14250)tCg>tTg		AHNAK nucleoprotein 2		G	LEU/SER	4,3778		0,4,1887	65.0	72.0	70.0		14249	-5.7	0.0	14		70	0,8232		0,0,4116	yes	missense	AHNAK2	NM_138420.2	145	0,4,6003	AA,AG,GG		0.0,0.1058,0.0333	benign	4750/5796	105407539	4,12010	1891	4116	6007	SO:0001583	missense	113146					nucleus		g.chr14:105407539G>A	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.14249C>T	14.37:g.105407539G>A	ENSP00000353114:p.Ser4750Leu					AHNAK2_ENST00000557457.1_Intron	p.S4750L	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	14368	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4750					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14249C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852046	0.32699	0.001058	0.0	ENSG00000185567	ENST00000333244	T	0.08370	3.1	2.85	-5.7	0.02421	.	.	.	.	.	T	0.05044	0.0135	L	0.34521	1.04	0.09310	N	1	B	0.17038	0.02	B	0.08055	0.003	T	0.38178	-0.9673	9	0.25751	T	0.34	.	5.5078	0.16864	0.4574:0.2239:0.3187:0.0	.	4750	Q8IVF2	AHNK2_HUMAN	L	4750	ENSP00000353114:S4750L	ENSP00000353114:S4750L	S	-	2	0	AHNAK2	104478584	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.992000	0.01476	-1.902000	0.01094	0.196000	0.17591	TCG		0.438	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		20	55	0	0	0	1	0	20	55				
PLCL2	23228	broad.mit.edu	37	3	17052807	17052807	+	Missense_Mutation	SNP	G	G	A	rs200999126		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:17052807G>A	ENST00000418129.2	+	2	2056	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	PLCL2_ENST00000432376.1_Missense_Mutation_p.A531T|PLCL2_ENST00000396755.2_Missense_Mutation_p.A531T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	657	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAGCAAGTACGCCAATGAAAA	0.403																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(1591-1593)Gcc>Acc		phospholipase C-like 2							99.0	103.0	102.0					3																	17052807		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052807G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1591G>A	3.37:g.17052807G>A	ENSP00000409637:p.Ala531Thr					PLCL2_ENST00000396755.2_Missense_Mutation_p.A531T|PLCL2_ENST00000432376.1_Missense_Mutation_p.A531T	p.A531T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	2056	+			657			PI-PLC X-box.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1591G>A	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216557	0.39201	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.53423	0.62;0.62;0.62	5.63	5.63	0.86233	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	.	.	.	0.58432	D	0.999999	D	0.53619	0.961	P	0.50537	0.643	T	0.41215	-0.9521	9	0.21014	T	0.42	.	19.6959	0.96026	0.0:0.0:1.0:0.0	.	657	Q9UPR0	PLCL2_HUMAN	T	531;658;531;531	ENSP00000409637:A531T;ENSP00000379979:A531T;ENSP00000412836:A531T	ENSP00000285094:A658T	A	+	1	0	PLCL2	17027811	1.000000	0.71417	0.989000	0.46669	0.944000	0.59088	7.863000	0.87023	2.659000	0.90383	0.650000	0.86243	GCC		0.403	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			38	78	0	0	0	1	0	38	78				
TTN	7273	broad.mit.edu	37	2	179595004	179595004	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179595004C>A	ENST00000591111.1	-	60	17396	c.17172G>T	c.(17170-17172)atG>atT	p.M5724I	TTN_ENST00000589042.1_Missense_Mutation_p.M6041I|TTN_ENST00000342992.6_Missense_Mutation_p.M4797I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12529	Ig-like 38.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTTATTGTCATGGGTGCAG	0.478																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18121-18123)atG>atT		titin							39.0	37.0	37.0					2																	179595004		1892	4115	6007	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595004C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17172G>T	2.37:g.179595004C>A	ENSP00000465570:p.Met5724Ile					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M4797I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.M5724I	p.M6041I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		62	18347	-			5724			Ig-like 41.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18123G>T		.	.	.	.	.	.	.	.	.	.	C	12.73	2.025418	0.35701	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.89	5.89	0.94794	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48370	0.1496	N	0.16903	0.455	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44345	-0.9334	9	0.87932	D	0	.	14.4167	0.67155	0.0:0.93:0.0:0.07	.	5724	Q8WZ42	TITIN_HUMAN	I	4797	ENSP00000343764:M4797I	ENSP00000343764:M4797I	M	-	3	0	TTN	179303249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.080000	0.41586	2.793000	0.96121	0.655000	0.94253	ATG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	18	1	0	8.12818e-05	1	8.79784e-05	7	18				
VCAN	1462	broad.mit.edu	37	5	82837802	82837802	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82837802C>A	ENST00000265077.3	+	8	9545	c.8980C>A	c.(8980-8982)Cta>Ata	p.L2994I	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.L2007I|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2994	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGTGCCTTGGCTAAGTCCACA	0.498																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(8980-8982)Cta>Ata		versican							54.0	55.0	54.0					5																	82837802		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837802C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8980C>A	5.37:g.82837802C>A	ENSP00000265077:p.Leu2994Ile					VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.L2007I	p.L2994I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9545	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2994			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8980C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	3.190	-0.166045	0.06461	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.19250	2.16;2.16	5.64	3.54	0.40534	.	0.340762	0.25578	N	0.029705	T	0.08935	0.0221	N	0.08118	0	0.19575	N	0.999961	B;B	0.13145	0.007;0.004	B;B	0.06405	0.002;0.001	T	0.32903	-0.9889	10	0.14252	T	0.57	.	8.0825	0.30752	0.0:0.5953:0.2687:0.136	.	2007;2994	P13611-2;P13611	.;CSPG2_HUMAN	I	2994;2007	ENSP00000265077:L2994I;ENSP00000340062:L2007I	ENSP00000265077:L2994I	L	+	1	2	VCAN	82873558	0.097000	0.21791	0.944000	0.38274	0.003000	0.03518	0.838000	0.27572	1.378000	0.46305	0.655000	0.94253	CTA		0.498	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		41	61	1	0	2.40579e-17	1	3.22781e-17	41	61				
FEM1B	10116	broad.mit.edu	37	15	68583077	68583077	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68583077G>A	ENST00000306917.4	+	2	1996	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	461					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)	p.E461delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ACAGTGCAGCGAAGAAGATCA	0.403																																						ENST00000306917.4																			1	Deletion - In frame(1)	p.E461delE(1)	ovary(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(1381-1383)Gaa>Aaa		fem-1 homolog b (C. elegans)							143.0	130.0	134.0					15																	68583077		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68583077G>A		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1381G>A	15.37:g.68583077G>A	ENSP00000307298:p.Glu461Lys						p.E461K	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	1996	+			461					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.1381G>A	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537717	0.65085	.	.	ENSG00000169018	ENST00000306917	T	0.45668	0.89	5.95	5.95	0.96441	.	0.088882	0.85682	D	0.000000	T	0.34513	0.0900	L	0.47716	1.5	0.80722	D	1	P	0.42556	0.783	B	0.31686	0.134	T	0.12630	-1.0540	10	0.19590	T	0.45	-10.9522	19.36	0.94432	0.0:0.0:1.0:0.0	.	461	Q9UK73	FEM1B_HUMAN	K	461	ENSP00000307298:E461K	ENSP00000307298:E461K	E	+	1	0	FEM1B	66370131	1.000000	0.71417	0.957000	0.39632	0.847000	0.48162	7.989000	0.88205	2.826000	0.97356	0.491000	0.48974	GAA		0.403	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			30	67	0	0	0	1	0	30	67				
ALMS1P	200420	broad.mit.edu	37	2	73899614	73899614	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73899614C>T	ENST00000450720.1	+	0	486					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												AAGAAGAATTCCCATGAAGGT	0.383																																						ENST00000450720.1																			0																				231.0	199.0	209.0					2																	73899614		692	1591	2283			0							g.chr2:73899614C>T	BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73899614C>T								NR_003683.2						0	486	+									RNA	SNP	ENST00000450720.1	37																																																																																						0.383	ALMS1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339824.1	NR_003683		5	21	0	0	0	1	0	5	21				
NLRP10	338322	broad.mit.edu	37	11	7982839	7982839	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982839C>T	ENST00000328600.2	-	2	481	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	107					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.R107H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTAGGCAGCGCACATGCTC	0.507																																						ENST00000328600.2																			1	Substitution - Missense(1)	p.R107H(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(319-321)cGc>cAc		NLR family, pyrin domain containing 10							69.0	69.0	69.0					11																	7982839		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982839C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.320G>A	11.37:g.7982839C>T	ENSP00000327763:p.Arg107His						p.R107H	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	481	-			107					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.320G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044542	0.55110	.	.	ENSG00000182261	ENST00000328600	T	0.80566	-1.39	4.85	-0.561	0.11785	.	0.577059	0.14625	N	0.308170	T	0.62146	0.2404	L	0.29908	0.895	0.09310	N	1	P	0.46578	0.88	B	0.37943	0.261	T	0.57682	-0.7769	10	0.66056	D	0.02	.	3.1733	0.06560	0.3152:0.4165:0.0:0.2684	.	107	Q86W26	NAL10_HUMAN	H	107	ENSP00000327763:R107H	ENSP00000327763:R107H	R	-	2	0	NLRP10	7939415	0.000000	0.05858	0.685000	0.30070	0.331000	0.28603	-1.519000	0.02243	0.019000	0.15079	0.655000	0.94253	CGC		0.507	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		4	80	0	0	0	1	0	4	80				
C9	735	broad.mit.edu	37	5	39341372	39341372	+	Missense_Mutation	SNP	G	G	A	rs147701327	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:39341372G>A	ENST00000263408.4	-	4	447	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	118	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CCATTACACCGAAGTCGCATC	0.428																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(352-354)Cgg>Tgg		complement component 9		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	110.0	111.0		352	3.2	0.5	5	dbSNP_134	111	5,8595	4.3+/-15.6	0,5,4295	yes	missense	C9	NM_001737.3	101	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	118/560	39341372	6,13000	2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341372G>A		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.352C>T	5.37:g.39341372G>A	ENSP00000263408:p.Arg118Trp					C9_ENST00000509186.1_5'UTR	p.R118W	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		4	447	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	118			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263408.4	37	c.352C>T	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133700	0.56828	2.27E-4	5.81E-4	ENSG00000113600	ENST00000263408	D	0.87729	-2.29	5.14	3.24	0.37175	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.805832	0.11072	N	0.602799	T	0.82162	0.4977	M	0.62088	1.915	0.25282	N	0.989429	P	0.34522	0.455	B	0.16722	0.016	T	0.74179	-0.3749	10	0.66056	D	0.02	-5.565	8.7158	0.34410	0.0858:0.2381:0.6761:0.0	.	118	P02748	CO9_HUMAN	W	118	ENSP00000263408:R118W	ENSP00000263408:R118W	R	-	1	2	C9	39377129	0.987000	0.35691	0.471000	0.27229	0.573000	0.36030	1.038000	0.30254	1.160000	0.42584	0.563000	0.77884	CGG		0.428	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			34	62	0	0	0	1	0	34	62				
CDK5RAP2	55755	broad.mit.edu	37	9	123201969	123201969	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123201969T>G	ENST00000349780.4	-	24	3609	c.3430A>C	c.(3430-3432)Att>Ctt	p.I1144L	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.I1103L|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.I1144L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.I1112L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1144	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAAACTGTAATTATGGCCTCA	0.443											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(3430-3432)Att>Ctt		CDK5 regulatory subunit associated protein 2							96.0	91.0	93.0					9																	123201969		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123201969T>G	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3430A>C	9.37:g.123201969T>G	ENSP00000343818:p.Ile1144Leu		OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1524	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.I1144L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.I1103L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.I1112L	p.I1144L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			24	3609	-			1144			Interaction with MAPRE1.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.3430A>C	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926111	0.52759	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.24151	3.83;3.76;3.85;3.76;2.17;1.87	5.67	3.35	0.38373	.	0.191701	0.36778	N	0.002418	T	0.25717	0.0626	M	0.68317	2.08	0.29209	N	0.874684	B;B;B;B;B;B	0.20261	0.005;0.01;0.01;0.043;0.006;0.021	B;B;B;B;B;B	0.24006	0.006;0.009;0.009;0.05;0.004;0.021	T	0.18116	-1.0347	10	0.49607	T	0.09	.	6.8376	0.23945	0.0:0.0774:0.1675:0.7551	.	154;913;1112;1144;1144;538	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	L	1112;1103;1144;1144;538;154;916	ENSP00000354065:I1112L;ENSP00000352258:I1103L;ENSP00000343818:I1144L;ENSP00000353317:I1144L;ENSP00000400395:I538L;ENSP00000409941:I154L	ENSP00000341695:I916L	I	-	1	0	CDK5RAP2	122241790	0.955000	0.32602	0.994000	0.49952	0.983000	0.72400	2.652000	0.46682	0.970000	0.38263	0.460000	0.39030	ATT		0.443	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		33	37	0	0	0	1	0	33	37				
BPIFA3	128861	broad.mit.edu	37	20	31814249	31814249	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31814249C>A	ENST00000375454.3	+	5	784	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.L156I	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	192						extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCTCTACAACCTCAAAGAGAA	0.428																																						ENST00000375454.3																			0											c.(574-576)Ctc>Atc		BPI fold containing family A, member 3							100.0	92.0	95.0					20																	31814249		2203	4300	6503	SO:0001583	missense	128861					extracellular region	lipid binding	g.chr20:31814249C>A		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.574C>A	20.37:g.31814249C>A	ENSP00000364603:p.Leu192Ile					BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.L156I	p.L192I	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN			5	784	+			192					Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	c.574C>A	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646859	0.29246	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.05649	3.41;3.41	3.62	-5.61	0.02489	.	0.834104	0.10062	N	0.720760	T	0.05502	0.0145	N	0.19112	0.55	0.09310	N	1	P;P	0.41420	0.705;0.749	B;P	0.45753	0.359;0.492	T	0.18808	-1.0325	10	0.33141	T	0.24	-0.2491	11.545	0.50688	0.0:0.2533:0.0:0.7467	.	156;192	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	I	192;156	ENSP00000364603:L192I;ENSP00000364601:L156I	ENSP00000364601:L156I	L	+	1	0	BPIFA3	31277910	0.268000	0.24133	0.000000	0.03702	0.004000	0.04260	-0.003000	0.12901	-1.272000	0.02427	-0.672000	0.03802	CTC		0.428	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		9	23	1	0	0.000274275	1	0.000292037	9	23				
ABCA12	26154	broad.mit.edu	37	2	215884496	215884496	+	Missense_Mutation	SNP	C	C	T	rs562998767		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215884496C>T	ENST00000272895.7	-	12	1531	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000437897.3_RNA|AC072062.3_ENST00000419251.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.E120K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	438					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAAGAAGTTCGGTCAAGTTT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18434	0.0		0.0	False		,,,				2504	0.0				Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(1312-1314)Gaa>Aaa		ATP-binding cassette, sub-family A (ABC1), member 12							47.0	48.0	48.0					2																	215884496		2203	4299	6502	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215884496C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1312G>A	2.37:g.215884496C>T	ENSP00000272895:p.Glu438Lys					ABCA12_ENST00000389661.4_Missense_Mutation_p.E120K	p.E438K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	12	1531	-		Renal(323;0.127)	438					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1312G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312795	0.23908	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.54675	0.56;0.56	6.0	-0.213	0.13165	.	0.680304	0.14617	N	0.308623	T	0.24586	0.0596	N	0.14661	0.345	0.28975	N	0.889014	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.11155	-1.0599	10	0.15066	T	0.55	.	1.4176	0.02305	0.1246:0.2786:0.1991:0.3977	.	438;120	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	K	438;120	ENSP00000272895:E438K;ENSP00000374312:E120K	ENSP00000272895:E438K	E	-	1	0	ABCA12	215592741	0.001000	0.12720	0.523000	0.27875	0.996000	0.88848	-0.514000	0.06298	0.394000	0.25230	0.637000	0.83480	GAA		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		13	33	0	0	0	1	0	13	33				
TLR6	10333	broad.mit.edu	37	4	38829734	38829734	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38829734A>G	ENST00000381950.1	-	1	1426	c.1361T>C	c.(1360-1362)gTa>gCa	p.V454A	TLR6_ENST00000436693.2_Missense_Mutation_p.V454A			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	454					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGATCAAGTACCTTGATCCT	0.363																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1360-1362)gTa>gCa		toll-like receptor 6							121.0	133.0	129.0					4																	38829734		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829734A>G		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1361T>C	4.37:g.38829734A>G	ENSP00000371376:p.Val454Ala					TLR6_ENST00000381950.1_Missense_Mutation_p.V454A	p.V454A	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	1480	-			454					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1361T>C	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114611	0.37339	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.57907	0.37;0.37	5.14	5.14	0.70334	.	0.198128	0.34067	N	0.004290	T	0.49729	0.1574	L	0.42581	1.335	0.19575	N	0.999965	P	0.38250	0.624	B	0.43155	0.41	T	0.51748	-0.8666	10	0.66056	D	0.02	.	10.7184	0.46026	0.8572:0.0:0.0:0.1428	.	454	Q9Y2C9	TLR6_HUMAN	A	454	ENSP00000389600:V454A;ENSP00000371376:V454A	ENSP00000371376:V454A	V	-	2	0	TLR6	38506129	0.000000	0.05858	0.978000	0.43139	0.812000	0.45895	0.745000	0.26259	1.936000	0.56123	0.397000	0.26171	GTA		0.363	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			38	56	0	0	0	1	0	38	56				
CNTN5	53942	broad.mit.edu	37	11	99872788	99872788	+	Silent	SNP	G	G	A	rs200186014		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:99872788G>A	ENST00000524871.1	+	9	1190	c.900G>A	c.(898-900)ccG>ccA	p.P300P	CNTN5_ENST00000279463.3_Silent_p.P300P|CNTN5_ENST00000527185.1_Silent_p.P300P|CNTN5_ENST00000418526.2_Silent_p.P226P|CNTN5_ENST00000528682.1_Silent_p.P300P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	300	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATATGAGCCGAAAATTGAGG	0.363																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(898-900)ccG>ccA		contactin 5		G	,	0,3686		0,0,1843	95.0	92.0	93.0		900,678	2.7	1.0	11		93	2,8190		0,2,4094	no	coding-synonymous,coding-synonymous	CNTN5	NM_014361.3,NM_175566.2	,	0,2,5937	AA,AG,GG		0.0244,0.0,0.0168	,	300/1101,226/1027	99872788	2,11876	1843	4096	5939	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99872788G>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.900G>A	11.37:g.99872788G>A						CNTN5_ENST00000418526.2_Silent_p.P226P|CNTN5_ENST00000528682.1_Silent_p.P300P|CNTN5_ENST00000279463.3_Silent_p.P300P|CNTN5_ENST00000527185.1_Silent_p.P300P	p.P300P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	9	1190	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	300			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.900G>A	CCDS53696.1																																																																																				0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		3	4	0	0	0	1	0	3	4				
SP5	389058	broad.mit.edu	37	2	171573092	171573092	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171573092C>A	ENST00000375281.3	+	2	537	c.375C>A	c.(373-375)ttC>ttA	p.F125L	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	125					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCTACGAGTTCTCGCCGGTCA	0.726																																						ENST00000375281.3																			0				NS(1)|endometrium(2)|lung(1)|prostate(1)	5						c.(373-375)ttC>ttA		Sp5 transcription factor							11.0	14.0	13.0					2																	171573092		1953	4115	6068	SO:0001583	missense	389058				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:171573092C>A		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.375C>A	2.37:g.171573092C>A	ENSP00000364430:p.Phe125Leu						p.F125L	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN			2	537	+			125						Missense_Mutation	SNP	ENST00000375281.3	37	c.375C>A	CCDS33322.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246998	0.22796	.	.	ENSG00000204335	ENST00000375281	T	0.07216	3.21	4.29	1.4	0.22301	.	0.056624	0.64402	D	0.000001	T	0.03520	0.0101	N	0.21373	0.66	0.46167	D	0.998902	P	0.38767	0.646	B	0.26094	0.066	T	0.52238	-0.8602	10	0.10636	T	0.68	.	8.3754	0.32440	0.0:0.6438:0.0:0.3562	.	125	Q6BEB4	SP5_HUMAN	L	125	ENSP00000364430:F125L	ENSP00000364430:F125L	F	+	3	2	SP5	171281338	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	1.031000	0.30165	0.380000	0.24823	-0.234000	0.12200	TTC		0.726	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		10	34	1	0	3.86212e-05	1	4.21111e-05	10	34				
SNX27	81609	broad.mit.edu	37	1	151611416	151611416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151611416C>T	ENST00000458013.2	+	2	484	c.364C>T	c.(364-366)Cga>Tga	p.R122*	SNX27_ENST00000368843.3_Nonsense_Mutation_p.R122*|SNX27_ENST00000368838.1_Nonsense_Mutation_p.R29*			Q96L92	SNX27_HUMAN	sorting nexin family member 27	122	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGACCTGATTCGAGCAGGCGA	0.483																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(364-366)Cga>Tga		sorting nexin family member 27							136.0	118.0	124.0					1																	151611416		2203	4300	6503	SO:0001587	stop_gained	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151611416C>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.364C>T	1.37:g.151611416C>T	ENSP00000400333:p.Arg122*					SNX27_ENST00000368838.1_Nonsense_Mutation_p.R29*|SNX27_ENST00000458013.2_Nonsense_Mutation_p.R122*	p.R122*	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	484	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		122			PDZ.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Nonsense_Mutation	SNP	ENST00000458013.2	37	c.364C>T		.	.	.	.	.	.	.	.	.	.	C	38	7.002976	0.97994	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	15.4734	0.75458	0.0:1.0:0.0:0.0	.	.	.	.	X	122;122;29	.	ENSP00000357831:R29X	R	+	1	2	SNX27	149878040	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.438000	0.66550	2.297000	0.77311	0.591000	0.81541	CGA		0.483	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		27	36	0	0	0	1	0	27	36				
NAP1L2	4674	broad.mit.edu	37	X	72433721	72433721	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:72433721T>A	ENST00000373517.3	-	1	963	c.608A>T	c.(607-609)tAt>tTt	p.Y203F	NAP1L2_ENST00000536638.1_Missense_Mutation_p.Y61F	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	203	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATAGTCCTCATAACCATCGTC	0.443																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(607-609)tAt>tTt		nucleosome assembly protein 1-like 2							107.0	81.0	90.0					X																	72433721		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433721T>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.608A>T	X.37:g.72433721T>A	ENSP00000362616:p.Tyr203Phe					NAP1L2_ENST00000536638.1_Missense_Mutation_p.Y61F	p.Y203F	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	963	-	Renal(35;0.156)		203			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.608A>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	t	4.773	0.143718	0.09134	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.35973	1.52;1.28	3.1	0.593	0.17478	.	1.264310	0.06293	U	0.699453	T	0.25005	0.0607	N	0.22421	0.69	0.25412	N	0.988348	P	0.35208	0.49	B	0.36534	0.227	T	0.27938	-1.0059	10	0.52906	T	0.07	-1.7163	4.6277	0.12486	0.0:0.3042:0.0:0.6958	.	203	Q9ULW6	NP1L2_HUMAN	F	203;61	ENSP00000362616:Y203F;ENSP00000441555:Y61F	ENSP00000362616:Y203F	Y	-	2	0	NAP1L2	72350446	0.354000	0.24912	0.994000	0.49952	0.960000	0.62799	1.093000	0.30939	0.027000	0.15297	0.481000	0.45027	TAT		0.443	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		31	35	0	0	0	1	0	31	35				
ADPGK	83440	broad.mit.edu	37	15	73045231	73045231	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73045231G>A	ENST00000311669.8	-	7	1035	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ADPGK_ENST00000456471.2_Silent_p.V40V|ADPGK_ENST00000567733.1_5'Flank	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	315	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CCGCGGGAAAGACCTGCTAAC	0.483																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(940-942)gtC>gtT		ADP-dependent glucokinase							29.0	29.0	29.0					15																	73045231		1923	4101	6024	SO:0001819	synonymous_variant	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73045231G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.942C>T	15.37:g.73045231G>A						ADPGK_ENST00000456471.2_Silent_p.V40V	p.V314V	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1035	-			315			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Silent	SNP	ENST00000311669.8	37	c.942C>T	CCDS42057.1																																																																																				0.483	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		22	24	0	0	0	1	0	22	24				
L3MBTL1	26013	broad.mit.edu	37	20	42163004	42163004	+	Silent	SNP	C	C	T	rs373936477		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:42163004C>T	ENST00000427442.2	+	15	1773	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	L3MBTL1_ENST00000373134.1_Silent_p.S470S|L3MBTL1_ENST00000444063.1_Silent_p.S470S|L3MBTL1_ENST00000373135.3_Silent_p.S470S|L3MBTL1_ENST00000418998.1_Silent_p.S538S			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	470					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCGTGGCCAGCGTGGAGGATG	0.602																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1408-1410)agC>agT		l(3)mbt-like 1 (Drosophila)		C	,	0,4406		0,0,2203	47.0	50.0	49.0		1410,1614	-1.3	1.0	20		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	L3MBTL1	NM_015478.6,NM_032107.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	470/773,538/841	42163004	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42163004C>T	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1614C>T	20.37:g.42163004C>T						L3MBTL1_ENST00000373134.1_Silent_p.S470S|L3MBTL1_ENST00000427442.2_Silent_p.S538S|L3MBTL1_ENST00000418998.1_Silent_p.S538S|L3MBTL1_ENST00000373135.3_Silent_p.S470S	p.S470S			Q9Y468	LMBL1_HUMAN			12	1542	+			470					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1410C>T	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	9.785	1.176413	0.21704	0.0	1.16E-4	ENSG00000185513	ENST00000445228	.	.	.	5.39	-1.3	0.09259	.	.	.	.	.	T	0.55689	0.1936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51957	-0.8639	4	.	.	.	.	9.9903	0.41868	0.0:0.2745:0.0:0.7255	.	.	.	.	V	161	.	.	A	+	2	0	L3MBTL1	41596418	0.031000	0.19500	0.998000	0.56505	0.979000	0.70002	-0.967000	0.03821	-0.056000	0.13221	-0.793000	0.03317	GCG		0.602	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		27	38	0	0	0	1	0	27	38				
SEMG1	6406	broad.mit.edu	37	20	43836602	43836602	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43836602A>C	ENST00000372781.3	+	2	721	c.664A>C	c.(664-666)Aat>Cat	p.N222H	SEMG1_ENST00000244069.6_Missense_Mutation_p.N222H	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	222	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCATTACCAAAATGTGGTTGA	0.398																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(664-666)Aat>Cat		semenogelin I							98.0	85.0	90.0					20																	43836602		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43836602A>C		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.664A>C	20.37:g.43836602A>C	ENSP00000361867:p.Asn222His					SEMG1_ENST00000244069.6_Missense_Mutation_p.N222H	p.N222H	NM_003007.3	NP_002998.1					2	721	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.664A>C	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	9.905	1.207822	0.22205	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.12672	2.66;2.66	1.24	-2.15	0.07102	.	.	.	.	.	T	0.28034	0.0691	M	0.75447	2.3	0.09310	N	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.91635	0.997;0.917;0.999	T	0.14755	-1.0461	9	0.66056	D	0.02	.	2.0707	0.03613	0.4051:0.2994:0.0:0.2955	.	222;222;222	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	H	222	ENSP00000244069:N222H;ENSP00000361867:N222H	ENSP00000244069:N222H	N	+	1	0	SEMG1	43270016	0.009000	0.17119	0.006000	0.13384	0.003000	0.03518	0.356000	0.20181	-0.635000	0.05531	-0.472000	0.04984	AAT		0.398	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		34	64	0	0	0	1	0	34	64				
TRIM25	7706	broad.mit.edu	37	17	54978869	54978869	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:54978869A>G	ENST00000316881.4	-	4	1047	c.998T>C	c.(997-999)cTg>cCg	p.L333P	TRIM25_ENST00000537230.1_Missense_Mutation_p.L333P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	333	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCCTTTTATCAGCTTGTGGTT	0.542																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(997-999)cTg>cCg		tripartite motif containing 25							431.0	387.0	401.0					17																	54978869		2203	4300	6503	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54978869A>G	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.998T>C	17.37:g.54978869A>G	ENSP00000323889:p.Leu333Pro					TRIM25_ENST00000537230.1_Missense_Mutation_p.L333P	p.L333P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			4	1047	-	Breast(9;6.15e-08)		333			Interaction with influenza A virus NS1.			Missense_Mutation	SNP	ENST00000316881.4	37	c.998T>C	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099016	0.56183	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.70045	-0.45;-0.45	5.53	5.53	0.82687	.	0.142322	0.32608	N	0.005877	T	0.76652	0.4017	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	P	0.60682	0.878	T	0.77416	-0.2596	10	0.48119	T	0.1	.	14.1833	0.65588	1.0:0.0:0.0:0.0	.	333	Q14258	TRI25_HUMAN	P	333	ENSP00000323889:L333P;ENSP00000445961:L333P	ENSP00000323889:L333P	L	-	2	0	TRIM25	52333868	0.999000	0.42202	0.960000	0.40013	0.048000	0.14542	5.492000	0.66893	2.231000	0.72958	0.454000	0.30748	CTG		0.542	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		89	232	0	0	0	1	0	89	232				
CUX2	23316	broad.mit.edu	37	12	111776197	111776197	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:111776197C>T	ENST00000261726.6	+	20	3458	c.3304C>T	c.(3304-3306)Cct>Tct	p.P1102S	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1102					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGGCGGGAGCCTTTTGTCCG	0.577																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(3304-3306)Cct>Tct		cut-like homeobox 2							51.0	59.0	56.0					12																	111776197		2010	4200	6210	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111776197C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3304C>T	12.37:g.111776197C>T	ENSP00000261726:p.Pro1102Ser						p.P1102S	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			20	3458	+			1102					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3304C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936794	0.92458	.	.	ENSG00000111249	ENST00000261726	T	0.53857	0.6	5.19	5.19	0.71726	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	L	0.60455	1.87	0.80722	D	1	D	0.59357	0.985	D	0.72982	0.979	T	0.72265	-0.4344	10	0.62326	D	0.03	-23.2058	18.7516	0.91818	0.0:1.0:0.0:0.0	.	1102	O14529	CUX2_HUMAN	S	1102	ENSP00000261726:P1102S	ENSP00000261726:P1102S	P	+	1	0	CUX2	110260580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.426000	0.82243	0.563000	0.77884	CCT		0.577	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		27	54	0	0	0	1	0	27	54				
LRRK1	79705	broad.mit.edu	37	15	101464879	101464879	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101464879T>G	ENST00000388948.3	+	2	401	c.42T>G	c.(40-42)tgT>tgG	p.C14W	LRRK1_ENST00000284395.5_5'UTR|LRRK1_ENST00000532029.2_Missense_Mutation_p.C14W	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTACTGGTGTGTGGGGCCGG	0.602																																						ENST00000388948.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(40-42)tgT>tgG		leucine-rich repeat kinase 1							109.0	126.0	120.0					15																	101464879		2203	4300	6503	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101464879T>G	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.42T>G	15.37:g.101464879T>G	ENSP00000373600:p.Cys14Trp					LRRK1_ENST00000532029.2_Missense_Mutation_p.C14W|LRRK1_ENST00000284395.5_5'UTR	p.C14W	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	401	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		14						Missense_Mutation	SNP	ENST00000388948.3	37	c.42T>G	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026718	0.54683	.	.	ENSG00000154237	ENST00000388948;ENST00000534045;ENST00000532029	T;T	0.74106	-0.81;2.59	5.6	5.6	0.85130	.	0.000000	0.52532	D	0.000071	T	0.77974	0.4211	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.99;0.998	T	0.80585	-0.1317	10	0.87932	D	0	.	12.1848	0.54231	0.0:0.0:0.0:1.0	.	14;14	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	W	14	ENSP00000373600:C14W;ENSP00000433268:C14W	ENSP00000373600:C14W	C	+	3	2	LRRK1	99282402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.237000	0.32695	2.123000	0.65237	0.533000	0.62120	TGT		0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		12	81	0	0	0	1	0	12	81				
PCDH19	57526	broad.mit.edu	37	X	99662932	99662932	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99662932C>T	ENST00000373034.4	-	1	2339	c.664G>A	c.(664-666)Gtt>Att	p.V222I	PCDH19_ENST00000255531.7_Missense_Mutation_p.V222I|PCDH19_ENST00000420881.2_Missense_Mutation_p.V222I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTAAGGCCAACGGTGCCCAGG	0.607																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(664-666)Gtt>Att		protocadherin 19							86.0	90.0	89.0					X																	99662932		2170	4247	6417	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662932C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.664G>A	X.37:g.99662932C>T	ENSP00000362125:p.Val222Ile					PCDH19_ENST00000420881.2_Missense_Mutation_p.V222I|PCDH19_ENST00000255531.7_Missense_Mutation_p.V222I	p.V222I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2339	-			222			Cadherin 2.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.664G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002653	0.35320	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.52983	0.64;0.64;0.64	5.98	5.98	0.97165	Cadherin (4);Cadherin-like (1);	0.054971	0.64402	D	0.000001	T	0.55465	0.1922	L	0.47078	1.49	0.58432	D	0.999995	D;B;B	0.55800	0.973;0.377;0.43	P;B;B	0.51101	0.659;0.056;0.094	T	0.55134	-0.8188	10	0.54805	T	0.06	.	19.3431	0.94352	0.0:1.0:0.0:0.0	.	222;222;222	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	I	222	ENSP00000400327:V222I;ENSP00000362125:V222I;ENSP00000255531:V222I	ENSP00000255531:V222I	V	-	1	0	PCDH19	99549588	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	4.981000	0.63819	2.521000	0.84997	0.544000	0.68410	GTT		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		56	99	0	0	0	1	0	56	99				
SPATA31D5P	347127	broad.mit.edu	37	9	84532492	84532492	+	RNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:84532492A>C	ENST00000527857.1	+	0	2514					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CTAGGTCAGAAACAACTTGAA	0.453																																						ENST00000527857.1																			0																																																			0							g.chr9:84532492A>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532492A>C								NR_026851.1						0	2514	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.453	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		9	57	0	0	0	1	0	9	57				
MED1	5469	broad.mit.edu	37	17	37564014	37564014	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:37564014C>T	ENST00000300651.6	-	17	4683	c.4460G>A	c.(4459-4461)cGa>cAa	p.R1487Q	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGGAAGTGGTCGGATACCATC	0.458										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4459-4461)cGa>cAa		mediator complex subunit 1							97.0	90.0	92.0					17																	37564014		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564014C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4460G>A	17.37:g.37564014C>T	ENSP00000300651:p.Arg1487Gln	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.R1487Q	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4683	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1487					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4460G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838252	0.51057	.	.	ENSG00000125686	ENST00000300651	T	0.47528	0.84	4.88	4.88	0.63580	.	.	.	.	.	T	0.50000	0.1590	N	0.24115	0.695	0.48830	D	0.999713	D	0.69078	0.997	P	0.55965	0.788	T	0.47935	-0.9078	9	0.39692	T	0.17	-4.2017	18.5898	0.91206	0.0:1.0:0.0:0.0	.	1487	Q15648	MED1_HUMAN	Q	1487	ENSP00000300651:R1487Q	ENSP00000300651:R1487Q	R	-	2	0	MED1	34817540	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.862000	0.69560	2.691000	0.91804	0.561000	0.74099	CGA		0.458	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		15	24	0	0	0	1	0	15	24				
TBC1D21	161514	broad.mit.edu	37	15	74174038	74174038	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:74174038C>A	ENST00000300504.2	+	3	305	c.222C>A	c.(220-222)ttC>ttA	p.F74L	TBC1D21_ENST00000562056.1_Missense_Mutation_p.F74L|TBC1D21_ENST00000535547.2_Missense_Mutation_p.F38L	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	74	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CGGGCTACTTCTCATGGCAGA	0.617																																						ENST00000300504.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(220-222)ttC>ttA		TBC1 domain family, member 21							56.0	54.0	55.0					15																	74174038		2198	4297	6495	SO:0001583	missense	161514					intracellular	Rab GTPase activator activity	g.chr15:74174038C>A	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.222C>A	15.37:g.74174038C>A	ENSP00000300504:p.Phe74Leu					TBC1D21_ENST00000535547.2_Missense_Mutation_p.F38L|TBC1D21_ENST00000562056.1_Missense_Mutation_p.F74L	p.F74L	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN			3	305	+			74			Rab-GAP TBC.		B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	c.222C>A	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053164	0.36181	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.03580	3.88;3.88	4.92	2.72	0.32119	Rab-GAP/TBC domain (4);	0.173808	0.27831	N	0.017665	T	0.01905	0.0060	N	0.08118	0	0.23298	N	0.997953	B;B	0.18310	0.027;0.015	B;B	0.24701	0.055;0.048	T	0.45862	-0.9232	10	0.33141	T	0.24	.	4.0956	0.09990	0.2345:0.6409:0.0:0.1246	.	38;74	B9A6M2;Q8IYX1	.;TBC21_HUMAN	L	74;38	ENSP00000300504:F74L;ENSP00000439325:F38L	ENSP00000300504:F74L	F	+	3	2	TBC1D21	71961091	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.613000	0.24299	2.279000	0.76181	0.563000	0.77884	TTC		0.617	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356		21	44	1	0	1.96292e-10	1	2.40731e-10	21	44				
C19orf18	147685	broad.mit.edu	37	19	58472793	58472793	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58472793C>T	ENST00000314391.3	-	5	599	c.498G>A	c.(496-498)gaG>gaA	p.E166E		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	166						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CATTTTCGTTCTCTGGAAGTA	0.488																																						ENST00000314391.3																			0				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(496-498)gaG>gaA		chromosome 19 open reading frame 18							163.0	127.0	139.0					19																	58472793		2203	4300	6503	SO:0001819	synonymous_variant	147685					integral to membrane		g.chr19:58472793C>T	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.498G>A	19.37:g.58472793C>T							p.E166E	NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	5	599	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	166						Silent	SNP	ENST00000314391.3	37	c.498G>A	CCDS12967.1																																																																																				0.488	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		19	41	0	0	0	1	0	19	41				
ZNF721	170960	broad.mit.edu	37	4	436594	436594	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:436594C>A	ENST00000338977.5	-	2	1674	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E554D|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	542					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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTAGGGTTTCTCTCCAGTAT	0.403																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1624-1626)gaG>gaT		zinc finger protein 721							91.0	99.0	96.0					4																	436594		2111	4264	6375	SO:0001583	missense	170960							g.chr4:436594C>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1626G>T	4.37:g.436594C>A	ENSP00000340524:p.Glu542Asp					ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.E554D|ZNF721_ENST00000507078.1_Intron	p.E542D							2	1674	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1626G>T		.	.	.	.	.	.	.	.	.	.	C	16.12	3.034458	0.54896	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.26810	1.71;1.71	1.28	0.147	0.14838	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24586	0.0596	N	0.12663	0.25	0.24902	N	0.992096	P;P;B	0.41041	0.736;0.486;0.431	P;P;P	0.60236	0.871;0.871;0.796	T	0.23332	-1.0191	9	0.66056	D	0.02	.	2.7089	0.05169	0.0:0.4661:0.3085:0.2254	.	542;554;554	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	542;554	ENSP00000340524:E542D;ENSP00000428878:E554D	ENSP00000340524:E542D	E	-	3	2	ZNF721	426594	0.671000	0.27521	0.032000	0.17829	0.810000	0.45777	0.210000	0.17455	-0.289000	0.09038	0.184000	0.17185	GAG		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		38	67	1	0	1.03484e-13	1	1.33003e-13	38	67				
KIAA1522	57648	broad.mit.edu	37	1	33237828	33237828	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33237828G>T	ENST00000373480.1	+	6	2974	c.2871G>T	c.(2869-2871)aaG>aaT	p.K957N	KIAA1522_ENST00000401073.2_Missense_Mutation_p.K1016N|KIAA1522_ENST00000373481.3_Missense_Mutation_p.K968N|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	957	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGCCCCAAAGAAGTCACCTA	0.672																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(3046-3048)aaG>aaT		KIAA1522							27.0	34.0	31.0					1																	33237828		1924	4122	6046	SO:0001583	missense	57648							g.chr1:33237828G>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2871G>T	1.37:g.33237828G>T	ENSP00000362579:p.Lys957Asn					KIAA1522_ENST00000373480.1_Missense_Mutation_p.K957N|KIAA1522_ENST00000373481.3_Missense_Mutation_p.K968N|KIAA1522_ENST00000294521.3_Intron	p.K1016N	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	3118	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	957					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.3048G>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337122	0.81801	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13307	2.6;2.6;2.61	4.95	4.95	0.65309	.	0.079916	0.50627	D	0.000113	T	0.16300	0.0392	L	0.50333	1.59	0.38535	D	0.949075	P;P;P	0.47302	0.893;0.893;0.893	B;B;B	0.42653	0.32;0.32;0.394	T	0.03514	-1.1029	10	0.30854	T	0.27	-15.4329	15.8772	0.79173	0.0:0.1352:0.8648:0.0	.	968;957;1016	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	N	1016;968;957	ENSP00000383851:K1016N;ENSP00000362580:K968N;ENSP00000362579:K957N	ENSP00000362579:K957N	K	+	3	2	KIAA1522	33010415	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.428000	0.59894	2.729000	0.93468	0.650000	0.86243	AAG		0.672	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			28	53	1	0	1.42536e-11	1	1.77514e-11	28	53				
ST3GAL4	6484	broad.mit.edu	37	11	126279209	126279209	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:126279209A>C	ENST00000526727.1	+	8	1048	c.674A>C	c.(673-675)aAt>aCt	p.N225T	ST3GAL4_ENST00000227495.6_Missense_Mutation_p.N221T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.N214T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.N231T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.N221T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.N220T|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.N224T|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.N225T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.N225T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	225					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TGGGATGTCAATCCTAAACAG	0.517																																						ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(673-675)aAt>aCt		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							131.0	126.0	128.0					11																	126279209		2201	4298	6499	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126279209A>C	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.674A>C	11.37:g.126279209A>C	ENSP00000436047:p.Asn225Thr					ST3GAL4_ENST00000532243.1_Missense_Mutation_p.N224T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.N214T|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.N220T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.N225T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.N221T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.N231T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.N221T	p.N225T			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	8	1048	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	225					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.674A>C	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642792	0.29246	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	T;T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.72	3.37	0.38596	.	0.345887	0.38436	N	0.001696	T	0.31136	0.0787	L	0.52126	1.63	0.36037	D	0.839859	P;B;B	0.47677	0.899;0.044;0.044	P;B;B	0.48873	0.593;0.077;0.077	T	0.27706	-1.0066	10	0.31617	T	0.26	-38.4613	6.2144	0.20648	0.7822:0.0:0.0769:0.1409	.	174;221;225	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	T	221;225;231;221;225;225;225;214;224;220;61	ENSP00000227495:N221T;ENSP00000394354:N225T;ENSP00000348451:N231T;ENSP00000433989:N221T;ENSP00000433318:N225T;ENSP00000376437:N225T;ENSP00000436047:N225T;ENSP00000399444:N214T;ENSP00000434349:N224T;ENSP00000434668:N220T;ENSP00000431170:N61T	ENSP00000227495:N221T	N	+	2	0	ST3GAL4	125784419	1.000000	0.71417	0.858000	0.33744	0.435000	0.31806	5.089000	0.64492	0.414000	0.25790	0.533000	0.62120	AAT		0.517	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		49	101	0	0	0	1	0	49	101				
KIAA0355	9710	broad.mit.edu	37	19	34832663	34832663	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:34832663G>A	ENST00000299505.6	+	10	2697	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	608										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGTCAGCTCAGAATTCCAGTA	0.448																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(1822-1824)caG>caA		KIAA0355							60.0	60.0	60.0					19																	34832663		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34832663G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1824G>A	19.37:g.34832663G>A							p.Q608Q	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			10	2697	+	Esophageal squamous(110;0.162)		608					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.1824G>A	CCDS12436.1																																																																																				0.448	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		33	50	0	0	0	1	0	33	50				
TMEM132D	121256	broad.mit.edu	37	12	129558971	129558971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:129558971C>A	ENST00000422113.2	-	9	3075	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E455*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	917					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCCCAATTTCTAAGTCGCTC	0.478																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2749-2751)Gaa>Taa		transmembrane protein 132D							131.0	114.0	120.0					12																	129558971		2203	4300	6503	SO:0001587	stop_gained	121256					integral to membrane		g.chr12:129558971C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2749G>T	12.37:g.129558971C>A	ENSP00000408581:p.Glu917*					TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E455*	p.E917*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3075	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	917					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	c.2749G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	40	8.182811	0.98693	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	.	.	.	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.9016	16.905	0.86124	0.0:1.0:0.0:0.0	.	.	.	.	X	455;917	.	.	E	-	1	0	TMEM132D	128124924	1.000000	0.71417	0.299000	0.25016	0.232000	0.25224	5.735000	0.68587	2.038000	0.60285	0.467000	0.42956	GAA		0.478	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		41	63	1	0	2.2871e-25	1	3.22072e-25	41	63				
SUSD3	203328	broad.mit.edu	37	9	95840161	95840161	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95840161T>C	ENST00000375472.3	+	3	347	c.311T>C	c.(310-312)gTg>gCg	p.V104A	SUSD3_ENST00000375469.1_Missense_Mutation_p.V91A	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	104						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GGCTTCAAGGTGGCCGTGATC	0.597																																						ENST00000375472.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						c.(310-312)gTg>gCg		sushi domain containing 3							204.0	136.0	159.0					9																	95840161		2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95840161T>C	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.311T>C	9.37:g.95840161T>C	ENSP00000364621:p.Val104Ala					SUSD3_ENST00000375469.1_Missense_Mutation_p.V91A	p.V104A	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN			3	347	+			104					Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.311T>C	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595703	0.66219	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.68765	-0.35;0.05	5.56	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	M	0.68317	2.08	0.48185	D	0.999605	P;P	0.48503	0.897;0.911	P;B	0.45558	0.485;0.433	T	0.69602	-0.5101	10	0.87932	D	0	-21.3172	9.9087	0.41392	0.0:0.0809:0.0:0.9191	.	91;104	Q96L08-2;Q96L08	.;SUSD3_HUMAN	A	104;91	ENSP00000364621:V104A;ENSP00000364618:V91A	ENSP00000364618:V91A	V	+	2	0	SUSD3	94879982	1.000000	0.71417	0.998000	0.56505	0.528000	0.34623	6.463000	0.73530	1.058000	0.40530	0.459000	0.35465	GTG		0.597	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		23	54	0	0	0	1	0	23	54				
LMAN2L	81562	broad.mit.edu	37	2	97405653	97405653	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97405653A>G	ENST00000264963.4	-	1	147	c.125T>C	c.(124-126)gTc>gCc	p.V42A	LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000377079.4_Missense_Mutation_p.V42A|LMAN2L_ENST00000426463.2_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	42					ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						ACCCGCCCCGACTTGCTGTGG	0.632																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(124-126)gTc>gCc		lectin, mannose-binding 2-like							80.0	78.0	79.0					2																	97405653		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97405653A>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.125T>C	2.37:g.97405653A>G	ENSP00000264963:p.Val42Ala					LMAN2L_ENST00000377079.4_Missense_Mutation_p.V42A|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_5'UTR	p.V42A	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			1	147	-			42					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.125T>C	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144192	0.37825	.	.	ENSG00000114988	ENST00000264963;ENST00000377079	T;T	0.43294	0.95;0.96	5.4	1.75	0.24633	.	0.446286	0.23254	N	0.050211	T	0.17789	0.0427	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09840	-1.0656	10	0.07813	T	0.8	-2.2852	8.543	0.33404	0.802:0.0:0.198:0.0	.	42;42	Q9H0V9-2;Q9H0V9	.;LMA2L_HUMAN	A	42	ENSP00000264963:V42A;ENSP00000366280:V42A	ENSP00000264963:V42A	V	-	2	0	LMAN2L	96769380	0.846000	0.29590	0.878000	0.34440	0.937000	0.57800	1.087000	0.30865	0.463000	0.27118	0.528000	0.53228	GTC		0.632	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		37	67	0	0	0	1	0	37	67				
ZIC5	85416	broad.mit.edu	37	13	100617759	100617759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100617759C>A	ENST00000267294.4	-	2	2097	c.1864G>T	c.(1864-1866)Gag>Tag	p.E622*		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	622					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACGTACCACTCATTGAGGTTG	0.607																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1864-1866)Gag>Tag		Zic family member 5							76.0	74.0	75.0					13																	100617759		2203	4300	6503	SO:0001587	stop_gained	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617759C>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1864G>T	13.37:g.100617759C>A	ENSP00000267294:p.Glu622*						p.E622*	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2097	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		622					Q5VYB0	Nonsense_Mutation	SNP	ENST00000267294.4	37	c.1864G>T	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	C	40	8.317146	0.98757	.	.	ENSG00000139800	ENST00000267294	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2386	0.98365	0.0:1.0:0.0:0.0	.	.	.	.	X	622	.	ENSP00000267294:E622X	E	-	1	0	ZIC5	99415760	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.260000	0.78391	2.871000	0.98454	0.655000	0.94253	GAG		0.607	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		37	59	1	0	3.21399e-22	1	4.46229e-22	37	59				
GBP2	2634	broad.mit.edu	37	1	89587645	89587645	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89587645G>A	ENST00000370466.3	-	2	273	c.5C>T	c.(4-6)gCt>gTt	p.A2V	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	2	GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GATCTCTGGAGCCATGTCCAG	0.443																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(4-6)gCt>gTt		guanylate binding protein 2, interferon-inducible							102.0	100.0	101.0					1																	89587645		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89587645G>A	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.5C>T	1.37:g.89587645G>A	ENSP00000359497:p.Ala2Val						p.A2V	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	2	273	-		Lung NSC(277;0.0908)	2					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.5C>T	CCDS719.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213855	0.58452	.	.	ENSG00000162645	ENST00000370466	T	0.69306	-0.39	3.52	3.52	0.40303	.	0.240515	0.24752	U	0.035888	T	0.75110	0.3805	M	0.92459	3.31	0.21105	N	0.99978	D	0.58268	0.982	P	0.62184	0.899	T	0.67677	-0.5609	10	0.87932	D	0	-21.4892	6.9144	0.24352	0.1272:0.0:0.8727:0.0	.	2	P32456	GBP2_HUMAN	V	2	ENSP00000359497:A2V	ENSP00000359497:A2V	A	-	2	0	GBP2	89360233	0.995000	0.38212	0.514000	0.27761	0.016000	0.09150	2.933000	0.48948	1.941000	0.56285	0.561000	0.74099	GCT		0.443	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		32	65	0	0	0	1	0	32	65				
ZNF20	7568	broad.mit.edu	37	19	12243602	12243602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12243602G>A	ENST00000334213.5	-	4	1623	c.1399C>T	c.(1399-1401)Cga>Tga	p.R467*	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	467					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)|kidney(1)|lung(6)	8						TCATGATATCGAATGGAACTG	0.403																																						ENST00000334213.5																			0				endometrium(1)|kidney(1)|lung(6)	8						c.(1399-1401)Cga>Tga		zinc finger protein 20							134.0	142.0	139.0					19																	12243602		2201	4300	6501	SO:0001587	stop_gained	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12243602G>A	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1399C>T	19.37:g.12243602G>A	ENSP00000335437:p.Arg467*					ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	p.R467*	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN			4	1623	-			467					Q8N457|Q9UG41	Nonsense_Mutation	SNP	ENST00000334213.5	37	c.1399C>T	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	G	37	6.368834	0.97511	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	.	.	.	1.09	-2.17	0.07059	.	.	.	.	.	.	.	.	.	.	.	0.48341	D	0.999634	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	3.4432	0.07472	0.0:0.2385:0.2861:0.4754	.	.	.	.	X	467	.	ENSP00000292241:R467X	R	-	1	2	ZNF20	12104602	0.000000	0.05858	0.000000	0.03702	0.973000	0.67179	-2.278000	0.01159	-0.584000	0.05913	0.313000	0.20887	CGA		0.403	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		23	73	0	0	0	1	0	23	73				
GDPD4	220032	broad.mit.edu	37	11	76990353	76990353	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:76990353A>G	ENST00000376217.2	-	3	395	c.145T>C	c.(145-147)Ttg>Ctg	p.L49L	GDPD4_ENST00000315938.4_Silent_p.L49L|GDPD4_ENST00000527489.1_Intron			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	49					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TTACTCACCAACAGCAATGAA	0.438																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(145-147)Ttg>Ctg		glycerophosphodiester phosphodiesterase domain containing 4							101.0	88.0	92.0					11																	76990353		2200	4292	6492	SO:0001819	synonymous_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76990353A>G	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.145T>C	11.37:g.76990353A>G						GDPD4_ENST00000527489.1_Intron|GDPD4_ENST00000376217.2_Silent_p.L49L	p.L49L	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN			3	395	-			49					Q7Z5B0	Silent	SNP	ENST00000376217.2	37	c.145T>C																																																																																					0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		14	23	0	0	0	1	0	14	23				
RNF150	57484	broad.mit.edu	37	4	141789419	141789419	+	Missense_Mutation	SNP	G	G	T	rs139463111		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:141789419G>T	ENST00000515673.2	-	7	1346	c.1313C>A	c.(1312-1314)tCt>tAt	p.S438Y	RNF150_ENST00000420921.2_Missense_Mutation_p.S297Y|RNF150_ENST00000306799.3_Missense_Mutation_p.S396Y|RNF150_ENST00000379512.2_Missense_Mutation_p.S297Y			Q9ULK6	RN150_HUMAN	ring finger protein 150	438						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCGTTTCAAGATTTCACTTC	0.468																																						ENST00000306799.3																			0				breast(1)|large_intestine(10)|lung(7)|ovary(1)	19						c.(1186-1188)tCt>tAt		ring finger protein 150		G	TYR/SER	0,4406		0,0,2203	190.0	151.0	164.0		1313	5.7	1.0	4	dbSNP_134	164	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF150	NM_020724.1	144	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	438/439	141789419	1,13005	2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141789419G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.1313C>A	4.37:g.141789419G>T	ENSP00000425840:p.Ser438Tyr					RNF150_ENST00000420921.2_Missense_Mutation_p.S297Y|RNF150_ENST00000379512.2_Missense_Mutation_p.S297Y|RNF150_ENST00000515673.1_Missense_Mutation_p.S438Y	p.S396Y	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN			7	1840	-	all_hematologic(180;0.162)		438					Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.1187C>A	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428877	0.83667	0.0	1.16E-4	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673	T;T;T;T	0.19806	2.12;2.12;2.22;3.17	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	T	0.29288	0.0729	N	0.08118	0	0.43896	D	0.996526	D;D	0.76494	0.999;0.998	D;P	0.67725	0.953;0.898	T	0.36163	-0.9759	10	0.87932	D	0	.	20.2786	0.98501	0.0:0.0:1.0:0.0	.	396;438	Q9ULK6-2;Q9ULK6	.;RN150_HUMAN	Y	297;297;396;438	ENSP00000368827:S297Y;ENSP00000394581:S297Y;ENSP00000304321:S396Y;ENSP00000425840:S438Y	ENSP00000304321:S396Y	S	-	2	0	RNF150	142008869	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.330000	0.79181	2.868000	0.98415	0.557000	0.71058	TCT		0.468	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		17	34	1	0	2.94398e-08	1	3.45884e-08	17	34				
COL9A2	1298	broad.mit.edu	37	1	40775941	40775941	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40775941C>T	ENST00000372748.3	-	14	829	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	245	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTTACCGTCTCTCCCTTGGGC	0.562																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(733-735)Gag>Aag		collagen, type IX, alpha 2							78.0	71.0	74.0					1																	40775941		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40775941C>T	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.733G>A	1.37:g.40775941C>T	ENSP00000361834:p.Glu245Lys						p.E245K	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		14	829	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	245			Triple-helical region 3 (COL3).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.733G>A	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	16.85	3.236279	0.58886	.	.	ENSG00000049089	ENST00000372748	D	0.94184	-3.37	4.67	4.67	0.58626	.	0.108239	0.64402	D	0.000008	D	0.95294	0.8473	M	0.72576	2.205	0.58432	D	0.999993	D	0.63880	0.993	D	0.70935	0.971	D	0.93438	0.6791	10	0.16896	T	0.51	.	13.1595	0.59537	0.0:1.0:0.0:0.0	.	245	Q14055	CO9A2_HUMAN	K	245	ENSP00000361834:E245K	ENSP00000361834:E245K	E	-	1	0	COL9A2	40548528	1.000000	0.71417	0.993000	0.49108	0.628000	0.37860	4.142000	0.58044	2.170000	0.68504	0.558000	0.71614	GAG		0.562	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		5	69	0	0	0	1	0	5	69				
GALNT5	11227	broad.mit.edu	37	2	158142583	158142583	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:158142583C>A	ENST00000259056.4	+	3	2163	c.1678C>A	c.(1678-1680)Ctt>Att	p.L560I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	560	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGTTCGGATTCTTCGCCTCAA	0.358																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(1678-1680)Ctt>Att		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							71.0	76.0	74.0					2																	158142583		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158142583C>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1678C>A	2.37:g.158142583C>A	ENSP00000259056:p.Leu560Ile						p.L560I	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			3	2163	+			560			Catalytic subdomain A.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.1678C>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831183	0.50845	.	.	ENSG00000136542	ENST00000259056	T	0.55760	0.5	5.87	5.87	0.94306	Glycosyl transferase, family 2 (1);	0.058877	0.64402	D	0.000002	T	0.36166	0.0957	N	0.04705	-0.18	0.45366	D	0.998359	P	0.40282	0.711	B	0.39119	0.291	T	0.22626	-1.0211	10	0.27082	T	0.32	.	19.8132	0.96556	0.0:1.0:0.0:0.0	.	560	Q7Z7M9	GALT5_HUMAN	I	560	ENSP00000259056:L560I	ENSP00000259056:L560I	L	+	1	0	GALNT5	157850829	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	1.521000	0.35910	2.785000	0.95823	0.655000	0.94253	CTT		0.358	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		14	32	1	0	1.52009e-12	1	1.92208e-12	14	32				
BRSK2	9024	broad.mit.edu	37	11	1459617	1459617	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1459617T>G	ENST00000528841.1	+	3	652	c.268T>G	c.(268-270)Tat>Gat	p.Y90D	BRSK2_ENST00000528710.1_Missense_Mutation_p.Y30D|BRSK2_ENST00000308230.5_Missense_Mutation_p.Y90D|BRSK2_ENST00000526678.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000308219.9_Missense_Mutation_p.Y90D|BRSK2_ENST00000382179.1_Missense_Mutation_p.Y136D|BRSK2_ENST00000531197.1_Missense_Mutation_p.Y90D			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AAACAAAAAATATTTGTAGGT	0.582																																						ENST00000308219.9																			0				endometrium(4)|large_intestine(1)|lung(5)	10						c.(268-270)Tat>Gat		BR serine/threonine kinase 2							84.0	94.0	91.0					11																	1459617		2130	4255	6385	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1459617T>G	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.268T>G	11.37:g.1459617T>G	ENSP00000432000:p.Tyr90Asp					BRSK2_ENST00000526678.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000531197.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000382179.1_Missense_Mutation_p.Y136D|BRSK2_ENST00000528710.1_Missense_Mutation_p.Y30D|BRSK2_ENST00000528841.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000308230.5_Missense_Mutation_p.Y90D	p.Y90D	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	3	654	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	90			Protein kinase.		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.268T>G	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552769	0.65425	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528596;ENST00000524702;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	2.57	2.57	0.30868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.66247	0.2770	L	0.38531	1.155	0.80722	D	1	P;D;P;P;P	0.89917	0.745;1.0;0.534;0.728;0.682	P;D;B;P;P	0.85130	0.662;0.997;0.415;0.598;0.462	T	0.62765	-0.6785	10	0.34782	T	0.22	.	9.7527	0.40485	0.0:0.0:0.0:1.0	.	90;136;90;90;90	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	D	90;90;90;90;90;30;30;30;136	ENSP00000310697:Y90D;ENSP00000431152:Y90D;ENSP00000310805:Y90D;ENSP00000432000:Y90D;ENSP00000433370:Y90D;ENSP00000434075:Y30D;ENSP00000432672:Y30D;ENSP00000433235:Y30D;ENSP00000371614:Y136D	ENSP00000310697:Y90D	Y	+	1	0	BRSK2	1416193	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.575000	0.46025	1.193000	0.43086	0.260000	0.18958	TAT		0.582	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		39	79	0	0	0	1	0	39	79				
C16orf89	146556	broad.mit.edu	37	16	5115773	5115773	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:5115773G>A	ENST00000315997.5	-	1	338	c.137C>T	c.(136-138)gCc>gTc	p.A46V	C16orf89_ENST00000472572.3_Missense_Mutation_p.A46V|C16orf89_ENST00000474471.3_Missense_Mutation_p.A46V|C16orf89_ENST00000350219.4_Missense_Mutation_p.A84V|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.A84V	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	46						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GAAGACGGTGGCTCTCTCCAG	0.587																																						ENST00000315997.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(136-138)gCc>gTc		chromosome 16 open reading frame 89							67.0	72.0	70.0					16																	5115773		2093	4234	6327	SO:0001583	missense	146556					extracellular region		g.chr16:5115773G>A		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.137C>T	16.37:g.5115773G>A	ENSP00000324672:p.Ala46Val					ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.A84V|C16orf89_ENST00000474471.3_Missense_Mutation_p.A46V|C16orf89_ENST00000350219.4_Missense_Mutation_p.A84V|C16orf89_ENST00000472572.3_Missense_Mutation_p.A46V	p.A46V	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN			1	338	-			46					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.137C>T	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732112	0.69189	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.08	4.13	0.48395	.	0.239846	0.33980	N	0.004372	T	0.34308	0.0893	L	0.49126	1.545	0.35513	D	0.800825	P;P	0.51537	0.911;0.946	B;P	0.48677	0.382;0.586	T	0.37731	-0.9693	10	0.09084	T	0.74	-22.1617	9.3727	0.38264	0.0992:0.0:0.9008:0.0	.	46;84	Q6UX73;G3V0F0	CP089_HUMAN;.	V	46;46;46;84;84;46	ENSP00000417158:A46V;ENSP00000420566:A46V;ENSP00000390402:A84V;ENSP00000283478:A84V;ENSP00000324672:A46V	ENSP00000324672:A46V	A	-	2	0	C16orf89	5055774	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.870000	0.56070	1.144000	0.42321	0.650000	0.86243	GCC		0.587	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		26	43	0	0	0	1	0	26	43				
SPESP1	246777	broad.mit.edu	37	15	69238515	69238515	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69238515T>G	ENST00000310673.3	+	2	796	c.642T>G	c.(640-642)ttT>ttG	p.F214L	NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	214					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CCGAAGAGTTTGGAAAGCACC	0.403																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(640-642)ttT>ttG		sperm equatorial segment protein 1							67.0	71.0	70.0					15																	69238515		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238515T>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.642T>G	15.37:g.69238515T>G	ENSP00000312284:p.Phe214Leu					NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	p.F214L	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	796	+			214					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.642T>G	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	T	6.202	0.405353	0.11754	.	.	ENSG00000258484	ENST00000310673	T	0.21191	2.02	3.85	-0.212	0.13169	.	1.465490	0.04637	N	0.404640	T	0.06050	0.0157	N	0.01576	-0.805	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.32693	-0.9897	10	0.02654	T	1	0.3144	4.3529	0.11163	0.0:0.1169:0.4124:0.4707	.	214	Q6UW49	SPESP_HUMAN	L	214	ENSP00000312284:F214L	ENSP00000312284:F214L	F	+	3	2	SPESP1	67025569	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.842000	0.27627	0.167000	0.19631	-0.460000	0.05396	TTT		0.403	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		47	67	0	0	0	1	0	47	67				
SH3BP4	23677	broad.mit.edu	37	2	235951498	235951498	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:235951498C>T	ENST00000409212.1	+	4	2592	c.2085C>T	c.(2083-2085)ggC>ggT	p.G695G	SH3BP4_ENST00000344528.4_Silent_p.G695G|SH3BP4_ENST00000392011.2_Silent_p.G695G			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	695					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGCTCCGGGGCCAGCTGTGGA	0.652																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(2083-2085)ggC>ggT		SH3-domain binding protein 4							46.0	45.0	45.0					2																	235951498		2203	4300	6503	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951498C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2085C>T	2.37:g.235951498C>T						SH3BP4_ENST00000392011.2_Silent_p.G695G|SH3BP4_ENST00000344528.4_Silent_p.G695G	p.G695G			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2592	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	695					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.2085C>T	CCDS2513.1																																																																																				0.652	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			8	85	0	0	0	1	0	8	85				
MAATS1	89876	broad.mit.edu	37	3	119451299	119451299	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119451299A>C	ENST00000273390.5	+	9	1254	c.1177A>C	c.(1177-1179)Aac>Cac	p.N393H		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)											TGTAGTAAAAAACTACTATCT	0.338																																						ENST00000273390.5																			0											c.(1177-1179)Aac>Cac		MYCBP-associated, testis expressed 1							36.0	37.0	37.0					3																	119451299		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119451299A>C	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1177A>C	3.37:g.119451299A>C	ENSP00000273390:p.Asn393His						p.N393H	NM_033364.3	NP_203528.2					9	1254	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1177A>C	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281318	0.80692	.	.	ENSG00000183833	ENST00000273390	T	0.23552	1.9	5.7	5.7	0.88788	.	0.229124	0.46758	D	0.000276	T	0.44932	0.1317	L	0.48362	1.52	0.80722	D	1	D;D;D;D	0.89917	0.998;0.991;1.0;1.0	D;P;D;D	0.76575	0.961;0.759;0.988;0.988	T	0.26395	-1.0104	10	0.46703	T	0.11	-7.9189	15.9631	0.79945	1.0:0.0:0.0:0.0	.	154;331;393;393	Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	.;.;.;.	H	393	ENSP00000273390:N393H	ENSP00000273390:N393H	N	+	1	0	C3orf15	120933989	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.107000	0.89557	2.161000	0.67846	0.533000	0.62120	AAC		0.338	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		7	13	0	0	0	1	0	7	13				
RANBP6	26953	broad.mit.edu	37	9	6014728	6014728	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6014728A>C	ENST00000259569.5	-	1	890	c.880T>G	c.(880-882)Ttg>Gtg	p.L294V	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	294					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GTTTCAGACAAGGTCACTATA	0.398																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(880-882)Ttg>Gtg		RAN binding protein 6							51.0	50.0	50.0					9																	6014728		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014728A>C	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.880T>G	9.37:g.6014728A>C	ENSP00000259569:p.Leu294Val					RANBP6_ENST00000485372.1_Intron	p.L294V	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	890	-		Acute lymphoblastic leukemia(23;0.158)	294					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.880T>G	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327783	0.41197	.	.	ENSG00000137040	ENST00000259569	T	0.71934	-0.61	4.34	2.0	0.26442	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000002	T	0.82213	0.4988	M	0.89287	3.02	0.51233	D	0.999916	D	0.76494	0.999	D	0.70016	0.967	T	0.79759	-0.1668	10	0.56958	D	0.05	-5.2487	6.1456	0.20283	0.7012:0.0:0.2988:0.0	.	294	O60518	RNBP6_HUMAN	V	294	ENSP00000259569:L294V	ENSP00000259569:L294V	L	-	1	2	RANBP6	6004728	0.992000	0.36948	1.000000	0.80357	0.989000	0.77384	1.793000	0.38764	0.443000	0.26582	0.533000	0.62120	TTG		0.398	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		13	29	0	0	0	1	0	13	29				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74801723	74801723	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74801723C>T	ENST00000370899.3	+	9	912	c.875C>T	c.(874-876)gCt>gTt	p.A292V	TNNI3K_ENST00000370891.2_Missense_Mutation_p.A292V|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.A292V|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A191V|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A305V	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AAATTTGGTGCTGATGTAAAT	0.358																																						ENST00000370895.1																			0											c.(874-876)gCt>gTt									106.0	104.0	104.0					1																	74801723		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74801723C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.875C>T	1.37:g.74801723C>T	ENSP00000359936:p.Ala292Val					TNNI3K_ENST00000326637.3_Missense_Mutation_p.A191V|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A292V|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A292V|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A292V	p.A292V			Q59H18	TNI3K_HUMAN			9	910	+			191						Missense_Mutation	SNP	ENST00000370899.3	37	c.875C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.128998	0.94473	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.23	5.23	0.72850	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;D;D;D	0.81914	0.995;0.957;0.96;0.988	T	0.36089	-0.9762	10	0.87932	D	0	.	18.9881	0.92780	0.0:1.0:0.0:0.0	.	191;292;292;292	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	V	292;292;292;292;191	ENSP00000359936:A292V;ENSP00000359932:A292V;ENSP00000450895:A292V;ENSP00000359928:A292V;ENSP00000322251:A191V	ENSP00000322251:A191V	A	+	2	0	RP11-653A5.2;AC093158.1	74574311	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.492000	0.66893	2.725000	0.93324	0.585000	0.79938	GCT		0.358	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			8	25	0	0	0	1	0	8	25				
MAP3K10	4294	broad.mit.edu	37	19	40719431	40719431	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40719431C>T	ENST00000253055.3	+	9	2133	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	615					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGAGGAGTTCGCGGAGGCAG	0.706																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1843-1845)ttC>ttT		mitogen-activated protein kinase kinase kinase 10							15.0	16.0	16.0					19																	40719431		2200	4294	6494	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40719431C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1845C>T	19.37:g.40719431C>T							p.F615F	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			9	2133	+			615					Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.1845C>T	CCDS12549.1																																																																																				0.706	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		15	17	0	0	0	1	0	15	17				
LEMD3	23592	broad.mit.edu	37	12	65639662	65639662	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:65639662C>T	ENST00000308330.2	+	12	2541	c.2515C>T	c.(2515-2517)Ctg>Ttg	p.L839L		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	839	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TGTTAAATGTCTGTCTCCAGA	0.299																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2515-2517)Ctg>Ttg		LEM domain containing 3							107.0	122.0	117.0					12																	65639662		2200	4300	6500	SO:0001819	synonymous_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65639662C>T	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2515C>T	12.37:g.65639662C>T							p.L839L	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	12	2541	+			839			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	c.2515C>T	CCDS8972.1																																																																																				0.299	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			22	53	0	0	0	1	0	22	53				
CACNA1F	778	broad.mit.edu	37	X	49084859	49084859	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49084859G>A	ENST00000376265.2	-	7	929	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R225C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R290C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	290					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGCACGCACGCCCTGATCCC	0.617																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(868-870)Cgt>Tgt		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						50.0	40.0	44.0					X																	49084859		2202	4300	6502	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49084859G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.868C>T	X.37:g.49084859G>A	ENSP00000365441:p.Arg290Cys					CACNA1F_ENST00000376251.1_Missense_Mutation_p.R225C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R290C	p.R290C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			7	929	-			290					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.868C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907945	0.72868	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96802	-4.13;-4.07;-4.08	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	M	0.92555	3.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98404	1.0569	10	0.41790	T	0.15	.	11.5847	0.50912	0.0:0.0:0.8215:0.1785	.	290;290	F5CIQ9;O60840	.;CAC1F_HUMAN	C	225;290;290	ENSP00000365427:R225C;ENSP00000321618:R290C;ENSP00000365441:R290C	ENSP00000321618:R290C	R	-	1	0	CACNA1F	48971803	1.000000	0.71417	0.325000	0.25375	0.015000	0.08874	5.420000	0.66441	2.114000	0.64651	0.436000	0.28706	CGT		0.617	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		15	18	0	0	0	1	0	15	18				
ADAM21P1	145241	broad.mit.edu	37	14	70714127	70714127	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70714127G>T	ENST00000530196.1	-	0	391					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GAGGTGTCTAGAAACCAAGAG	0.502																																						ENST00000530196.1																			0																																																			0							g.chr14:70714127G>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714127G>T								NR_003951.1						0	391	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.502	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		33	68	1	0	3.80469e-20	1	5.20151e-20	33	68				
LRRC25	126364	broad.mit.edu	37	19	18507553	18507553	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:18507553C>T	ENST00000339007.3	-	1	874	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	LRRC25_ENST00000595840.1_Missense_Mutation_p.R74Q	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	74						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGGAAGCTCTCGCAGGCCGTT	0.612																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(220-222)cGa>cAa		leucine rich repeat containing 25							77.0	67.0	71.0					19																	18507553		2203	4300	6503	SO:0001583	missense	126364					integral to membrane		g.chr19:18507553C>T	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.221G>A	19.37:g.18507553C>T	ENSP00000340983:p.Arg74Gln					LRRC25_ENST00000595840.1_Missense_Mutation_p.R74Q	p.R74Q	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			1	874	-			74					Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	37	c.221G>A	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	5.824	0.336201	0.11013	.	.	ENSG00000175489	ENST00000339007	T	0.08984	3.03	4.24	-5.49	0.02584	.	1.022980	0.07836	N	0.962166	T	0.02230	0.0069	N	0.01576	-0.805	0.09310	N	1	B	0.24043	0.096	B	0.21151	0.033	T	0.46884	-0.9159	10	0.02654	T	1	-4.5448	10.8779	0.46921	0.0:0.2879:0.0:0.7121	.	74	Q8N386	LRC25_HUMAN	Q	74	ENSP00000340983:R74Q	ENSP00000340983:R74Q	R	-	2	0	LRRC25	18368553	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-4.234000	0.00269	-0.786000	0.04516	0.561000	0.74099	CGA		0.612	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		15	29	0	0	0	1	0	15	29				
ADAMTS2	9509	broad.mit.edu	37	5	178559847	178559847	+	Missense_Mutation	SNP	C	C	T	rs574735794		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178559847C>T	ENST00000251582.7	-	14	2241	c.2140G>A	c.(2140-2142)Gtg>Atg	p.V714M		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	714	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCTCCGCACACGCCACACTTG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		17260	0.0		0.0	False		,,,				2504	0.001					ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2140-2142)Gtg>Atg		ADAM metallopeptidase with thrombospondin type 1 motif, 2							213.0	133.0	160.0					5																	178559847		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178559847C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2140G>A	5.37:g.178559847C>T	ENSP00000251582:p.Val714Met						p.V714M	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	14	2241	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	714			Cys-rich.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2140G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469880	0.84533	.	.	ENSG00000087116	ENST00000251582	T	0.72615	-0.67	5.38	5.38	0.77491	.	0.000000	0.49305	D	0.000141	D	0.89522	0.6739	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92508	0.6014	10	0.87932	D	0	.	18.4699	0.90769	0.0:1.0:0.0:0.0	.	714	O95450	ATS2_HUMAN	M	714	ENSP00000251582:V714M	ENSP00000251582:V714M	V	-	1	0	ADAMTS2	178492453	0.998000	0.40836	1.000000	0.80357	0.861000	0.49209	3.910000	0.56371	2.683000	0.91414	0.313000	0.20887	GTG		0.602	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		19	24	0	0	0	1	0	19	24				
NUGGC	389643	broad.mit.edu	37	8	27913534	27913534	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:27913534C>A	ENST00000413272.2	-	10	1296	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I	NUGGC_ENST00000341513.6_Missense_Mutation_p.R385I	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	385					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CATTTCATTTCTTTCTAAAAC	0.388																																						ENST00000413272.2																			0											c.(1153-1155)aGa>aTa		nuclear GTPase, germinal center associated							72.0	67.0	69.0					8																	27913534		1894	4125	6019	SO:0001583	missense	389643							g.chr8:27913534C>A	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1154G>T	8.37:g.27913534C>A	ENSP00000408697:p.Arg385Ile					NUGGC_ENST00000341513.6_Missense_Mutation_p.R385I	p.R385I	NM_001010906.1	NP_001010906.1					10	1296	-								Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.1154G>T	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305468	0.81247	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.19105	2.32;2.17	5.37	5.37	0.77165	.	0.076389	0.64402	D	0.000009	T	0.35913	0.0948	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.07731	-1.0757	10	0.72032	D	0.01	-18.1173	14.6354	0.68686	0.0:1.0:0.0:0.0	.	385	Q68CJ6	SLIP_HUMAN	I	385	ENSP00000408697:R385I;ENSP00000345031:R385I	ENSP00000345031:R385I	R	-	2	0	C8orf80	27969453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.587000	0.46128	2.507000	0.84556	0.557000	0.71058	AGA		0.388	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		4	5	1	0	1	1	1	4	5				
PARM1	25849	broad.mit.edu	37	4	75971446	75971446	+	Missense_Mutation	SNP	G	G	T	rs367804546		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:75971446G>T	ENST00000307428.7	+	4	1134	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	PARM1_ENST00000513238.1_Missense_Mutation_p.D66Y	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	308					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCTCTGTACGATGACTCCTA	0.438																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(922-924)Gat>Tat		prostate androgen-regulated mucin-like protein 1							112.0	116.0	114.0					4																	75971446		2141	4260	6401	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75971446G>T	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.922G>T	4.37:g.75971446G>T	ENSP00000370224:p.Asp308Tyr					PARM1_ENST00000513238.1_Missense_Mutation_p.D66Y	p.D308Y	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			4	1134	+			308					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.922G>T	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551852	0.65311	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.23552	1.9;1.9	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000030	T	0.38639	0.1048	N	0.24115	0.695	0.48571	D	0.999673	D	0.89917	1.0	D	0.97110	1.0	T	0.22836	-1.0205	10	0.87932	D	0	-21.6619	16.6237	0.84936	0.0:0.0:1.0:0.0	.	308	Q6UWI2	PARM1_HUMAN	Y	66;308	ENSP00000424276:D66Y;ENSP00000370224:D308Y	ENSP00000370224:D308Y	D	+	1	0	PARM1	76190470	1.000000	0.71417	0.791000	0.31998	0.626000	0.37791	6.093000	0.71422	2.797000	0.96272	0.561000	0.74099	GAT		0.438	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		12	19	1	0	2.61681e-11	1	3.25035e-11	12	19				
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		53	Substitution - Missense(53)	p.R88Q(53)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(262-264)cGa>cAa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							107.0	102.0	104.0					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			30	46	0	0	0	1	0	30	46				
AKR7L	246181	broad.mit.edu	37	1	19593790	19593790	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:19593790G>T	ENST00000429712.1	-	0	1119				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GAGCCACAATGAGCTTAGATG	0.507																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							71.0	74.0	73.0					1																	19593790		2203	4300	6503			246181							g.chr1:19593790G>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19593790G>T						AKR7L_ENST00000429712.1_RNA								0	802	-								Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.507	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		16	69	1	0	9.16793e-09	1	1.08598e-08	16	69				
RASGRF1	5923	broad.mit.edu	37	15	79294116	79294116	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79294116G>T	ENST00000419573.3	-	17	2785	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	RASGRF1_ENST00000558480.2_Silent_p.S821S|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Silent_p.S53S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	837					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCTCTCATGGAGACTTCTG	0.284																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2509-2511)tcC>tcA		Ras protein-specific guanine nucleotide-releasing factor 1							129.0	120.0	123.0					15																	79294116		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79294116G>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2511C>A	15.37:g.79294116G>T						RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S821S|RASGRF1_ENST00000394745.3_Silent_p.S53S	p.S837S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			17	2785	-			839					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2511C>A	CCDS10309.1																																																																																				0.284	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		20	39	1	0	9.7654e-05	1	0.000105618	20	39				
PKHD1	5314	broad.mit.edu	37	6	51612695	51612695	+	Missense_Mutation	SNP	C	C	T	rs146649803		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51612695C>T	ENST00000371117.3	-	58	9994	c.9719G>A	c.(9718-9720)cGa>cAa	p.R3240Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R3240Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3240					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R3240Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATACCAATTCGACCTCCTCT	0.478																																						ENST00000371117.3																			1	Substitution - Missense(1)	p.R3240Q(1)	skin(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	GRCh37	CM051180|CM051181	PKHD1	M	rs146649803	c.(9718-9720)cGa>cAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							118.0	112.0	114.0					6																	51612695		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612695C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9719G>A	6.37:g.51612695C>T	ENSP00000360158:p.Arg3240Gln					PKHD1_ENST00000340994.4_Missense_Mutation_p.R3240Q	p.R3240Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9994	-	Lung NSC(77;0.0605)		3240					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9719G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082395	0.76528	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88277	-2.17;-2.36	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000004	D	0.93996	0.8077	M	0.79475	2.455	0.36133	D	0.846291	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.998	D	0.94433	0.7651	10	0.66056	D	0.02	.	18.9119	0.92489	0.0:1.0:0.0:0.0	.	3240;3240;3240	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Q	3240	ENSP00000360158:R3240Q;ENSP00000341097:R3240Q	ENSP00000341097:R3240Q	R	-	2	0	PKHD1	51720654	1.000000	0.71417	0.993000	0.49108	0.394000	0.30568	5.086000	0.64474	2.712000	0.92718	0.650000	0.86243	CGA		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		47	62	0	0	0	1	0	47	62				
NHS	4810	broad.mit.edu	37	X	17746280	17746280	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:17746280A>G	ENST00000380060.3	+	6	4329	c.3991A>G	c.(3991-3993)Aaa>Gaa	p.K1331E	NHS_ENST00000398097.3_Missense_Mutation_p.K1175E	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1352					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCACCATGACAAAGTGCCTGG	0.393																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(3991-3993)Aaa>Gaa		Nance-Horan syndrome (congenital cataracts and dental anomalies)							116.0	100.0	105.0					X																	17746280		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17746280A>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3991A>G	X.37:g.17746280A>G	ENSP00000369400:p.Lys1331Glu					NHS_ENST00000398097.3_Missense_Mutation_p.K1175E	p.K1331E	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	4329	+	Hepatocellular(33;0.183)		1331					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3991A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.322926	0.60634	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49720	0.77;0.79	5.74	1.68	0.24146	.	0.311818	0.33732	N	0.004612	T	0.46889	0.1416	L	0.56769	1.78	0.28899	N	0.893374	P;P;P;P	0.46859	0.775;0.51;0.51;0.885	B;B;B;P	0.48189	0.225;0.164;0.164;0.57	T	0.48139	-0.9061	10	0.09843	T	0.71	-12.9789	13.8274	0.63359	0.5068:0.4931:0.0:0.0	.	1352;1173;1175;1331	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	E	1331;1175;1173	ENSP00000369400:K1331E;ENSP00000381170:K1175E	ENSP00000369397:K1173E	K	+	1	0	NHS	17656201	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.450000	0.60041	0.261000	0.21753	0.441000	0.28932	AAA		0.393	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		38	86	0	0	0	1	0	38	86				
GPR64	10149	broad.mit.edu	37	X	19032031	19032031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19032031T>G	ENST00000379869.3	-	16	1035	c.872A>C	c.(871-873)aAt>aCt	p.N291T	GPR64_ENST00000354791.3_Missense_Mutation_p.N275T|GPR64_ENST00000357544.3_Missense_Mutation_p.N261T|GPR64_ENST00000357991.3_Missense_Mutation_p.N288T|GPR64_ENST00000340581.3_Missense_Mutation_p.N261T|GPR64_ENST00000360279.4_Missense_Mutation_p.N269T|GPR64_ENST00000379873.2_Missense_Mutation_p.N291T|GPR64_ENST00000356606.4_Missense_Mutation_p.N277T|GPR64_ENST00000379876.1_Missense_Mutation_p.N267T|GPR64_ENST00000379878.3_Missense_Mutation_p.N275T	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	291					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGAGGGAACATTGTGGGTCAC	0.557																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(823-825)aAt>aCt		G protein-coupled receptor 64							126.0	121.0	123.0					X																	19032031		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19032031T>G	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.872A>C	X.37:g.19032031T>G	ENSP00000369198:p.Asn291Thr					GPR64_ENST00000379876.1_Missense_Mutation_p.N267T|GPR64_ENST00000356606.4_Missense_Mutation_p.N277T|GPR64_ENST00000379873.2_Missense_Mutation_p.N291T|GPR64_ENST00000357544.3_Missense_Mutation_p.N261T|GPR64_ENST00000360279.4_Missense_Mutation_p.N269T|GPR64_ENST00000357991.3_Missense_Mutation_p.N288T|GPR64_ENST00000354791.3_Missense_Mutation_p.N275T|GPR64_ENST00000340581.3_Missense_Mutation_p.N261T|GPR64_ENST00000379869.3_Missense_Mutation_p.N291T	p.N275T	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			15	1065	-	Hepatocellular(33;0.183)		291					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.824A>C	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	T	9.418	1.082283	0.20309	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.32272	1.5;1.61;1.61;1.61;1.6;1.65;1.61;1.65;1.65;1.46	5.36	-0.0717	0.13742	.	1.840750	0.02435	N	0.084012	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.22909	0.012;0.001;0.071;0.002;0.002;0.077;0.071;0.071;0.071;0.001;0.025	B;B;B;B;B;B;B;B;B;B;B	0.25614	0.007;0.009;0.062;0.009;0.009;0.062;0.062;0.062;0.062;0.004;0.028	T	0.14643	-1.0465	10	0.09084	T	0.74	.	3.0389	0.06132	0.2477:0.3419:0.0:0.4104	.	261;253;261;267;275;291;269;277;288;291;275	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	T	291;275;275;267;261;291;269;288;277;261	ENSP00000369202:N291T;ENSP00000369207:N275T;ENSP00000346845:N275T;ENSP00000369205:N267T;ENSP00000350152:N261T;ENSP00000369198:N291T;ENSP00000353421:N269T;ENSP00000350680:N288T;ENSP00000349015:N277T;ENSP00000344972:N261T	ENSP00000344972:N261T	N	-	2	0	GPR64	18941952	0.003000	0.15002	0.000000	0.03702	0.035000	0.12851	-0.039000	0.12124	0.066000	0.16515	0.356000	0.21956	AAT		0.557	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			75	114	0	0	0	1	0	75	114				
PEX1	5189	broad.mit.edu	37	7	92131270	92131270	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92131270A>C	ENST00000248633.4	-	14	2445	c.2350T>G	c.(2350-2352)Ttt>Gtt	p.F784V	PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.F462V|PEX1_ENST00000428214.1_Missense_Mutation_p.F727V	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	784					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGTACTGTAAAATCTCTAGCC	0.378																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2350-2352)Ttt>Gtt		peroxisomal biogenesis factor 1							160.0	174.0	170.0					7																	92131270		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92131270A>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2350T>G	7.37:g.92131270A>C	ENSP00000248633:p.Phe784Val					PEX1_ENST00000438045.1_Missense_Mutation_p.F462V|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.F727V	p.F784V	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		14	2445	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	784					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.2350T>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033133	0.54896	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;T	0.81659	-1.52;-1.52;2.4	5.15	5.15	0.70609	.	0.106321	0.64402	D	0.000004	T	0.74291	0.3697	L	0.28344	0.845	0.80722	D	1	B;P;B	0.49783	0.032;0.928;0.245	B;P;B	0.45071	0.035;0.468;0.077	T	0.78270	-0.2269	10	0.59425	D	0.04	-15.2902	15.1338	0.72545	1.0:0.0:0.0:0.0	.	462;576;784	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	V	462;784;727	ENSP00000410438:F462V;ENSP00000248633:F784V;ENSP00000394413:F727V	ENSP00000248633:F784V	F	-	1	0	PEX1	91969206	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	6.010000	0.70753	2.170000	0.68504	0.459000	0.35465	TTT		0.378	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		52	114	0	0	0	1	0	52	114				
OTULIN	90268	broad.mit.edu	37	5	14690293	14690293	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:14690293A>T	ENST00000284274.4	+	6	818	c.740A>T	c.(739-741)aAa>aTa	p.K247I		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		247	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TATAATGATAAAGAGAAAGGA	0.413																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(739-741)aAa>aTa		family with sequence similarity 105, member B							80.0	78.0	79.0					5																	14690293		1866	4103	5969	SO:0001583	missense	90268							g.chr5:14690293A>T																												ENST00000284274.4:c.740A>T	5.37:g.14690293A>T	ENSP00000284274:p.Lys247Ile						p.K247I	NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN			6	818	+	Lung NSC(4;0.00696)		247					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.740A>T	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534323	0.64972	.	.	ENSG00000154124	ENST00000284274	T	0.19532	2.14	5.96	3.41	0.39046	.	0.232368	0.49916	D	0.000126	T	0.15349	0.0370	L	0.34521	1.04	0.27274	N	0.958298	P	0.37636	0.603	B	0.40009	0.316	T	0.14587	-1.0467	10	0.16420	T	0.52	-17.8537	8.3701	0.32410	0.8158:0.0:0.1842:0.0	.	247	Q96BN8	F105B_HUMAN	I	247	ENSP00000284274:K247I	ENSP00000284274:K247I	K	+	2	0	FAM105B	14743293	1.000000	0.71417	0.526000	0.27913	0.987000	0.75469	2.926000	0.48892	0.411000	0.25702	0.533000	0.62120	AAA		0.413	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			16	31	0	0	0	1	0	16	31				
MAN2A1	4124	broad.mit.edu	37	5	109202582	109202582	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:109202582C>T	ENST00000261483.4	+	22	4370	c.3318C>T	c.(3316-3318)gtC>gtT	p.V1106V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1106					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGTTTATTGTCGAAAGTCTCA	0.348																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3316-3318)gtC>gtT		mannosidase, alpha, class 2A, member 1							89.0	84.0	86.0					5																	109202582		2202	4300	6502	SO:0001819	synonymous_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109202582C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3318C>T	5.37:g.109202582C>T							p.V1106V	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	22	4370	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1106					Q16767	Silent	SNP	ENST00000261483.4	37	c.3318C>T	CCDS34209.1																																																																																				0.348	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			27	30	0	0	0	1	0	27	30				
FAM160B1	57700	broad.mit.edu	37	10	116593063	116593063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:116593063G>T	ENST00000369248.4	+	3	531	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	FAM160B1_ENST00000369246.1_Nonsense_Mutation_p.E66*|FAM160B1_ENST00000369250.3_Nonsense_Mutation_p.E66*	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	66										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTGGTTCAAGAAGAAAATGA	0.368																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(196-198)Gaa>Taa		family with sequence similarity 160, member B1							99.0	97.0	98.0					10																	116593063		2203	4300	6503	SO:0001587	stop_gained	57700							g.chr10:116593063G>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.196G>T	10.37:g.116593063G>T	ENSP00000358251:p.Glu66*					FAM160B1_ENST00000369250.3_Nonsense_Mutation_p.E66*|FAM160B1_ENST00000369246.1_Nonsense_Mutation_p.E66*	p.E66*	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			3	531	+			66					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Nonsense_Mutation	SNP	ENST00000369248.4	37	c.196G>T	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	38	6.773367	0.97829	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000369246	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.3585	20.3593	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000358249:E66X	E	+	1	0	FAM160B1	116583053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.714000	0.98744	2.822000	0.97130	0.557000	0.71058	GAA		0.368	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		7	79	1	0	0.0293803	1	0.0299069	7	79				
ZNF658	26149	broad.mit.edu	37	9	40772234	40772234	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:40772234C>A	ENST00000602553.1	-	5	3335	c.3041G>T	c.(3040-3042)aGa>aTa	p.R1014I	ZNF658_ENST00000377626.3_Missense_Mutation_p.R1014I|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1014					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTGTGAATTCTCTGGTGTAC	0.443																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(3040-3042)aGa>aTa		zinc finger protein 658							15.0	24.0	21.0					9																	40772234		1526	3758	5284	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772234C>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.3041G>T	9.37:g.40772234C>A	ENSP00000473484:p.Arg1014Ile					ZNF658_ENST00000377626.3_Missense_Mutation_p.R1014I|ZNF658_ENST00000441795.1_Intron	p.R1014I			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	3335	-			1014					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.3041G>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	15.63	2.891279	0.52014	.	.	ENSG00000196409	ENST00000377626	T	0.24908	1.83	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38401	0.1039	L	0.46885	1.475	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.18777	-1.0326	9	0.52906	T	0.07	.	10.1869	0.43002	0.0:1.0:0.0:0.0	.	1014	Q5TYW1	ZN658_HUMAN	I	1014	ENSP00000366853:R1014I	ENSP00000366853:R1014I	R	-	2	0	ZNF658	40762234	0.000000	0.05858	0.792000	0.32020	0.993000	0.82548	0.180000	0.16860	1.487000	0.48415	0.518000	0.50308	AGA		0.443	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		38	84	1	0	1.62263e-30	1	2.3181e-30	38	84				
ADAMTS1	9510	broad.mit.edu	37	21	28212196	28212196	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:28212196T>A	ENST00000284984.3	-	6	2304	c.1850A>T	c.(1849-1851)aAt>aTt	p.N617I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	617	Cys-rich.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTCCTCACCATTATTGTCTGG	0.433																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1849-1851)aAt>aTt		ADAM metallopeptidase with thrombospondin type 1 motif, 1							146.0	137.0	140.0					21																	28212196		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212196T>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1850A>T	21.37:g.28212196T>A	ENSP00000284984:p.Asn617Ile						p.N617I	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	6	2304	-		Breast(209;0.000962)	617			Cys-rich.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1850A>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282226	0.40394	.	.	ENSG00000154734	ENST00000284984	T	0.62364	0.03	5.11	3.93	0.45458	.	.	.	.	.	T	0.58538	0.2129	M	0.67700	2.07	0.51233	D	0.999916	B	0.21225	0.053	B	0.20184	0.028	T	0.58651	-0.7599	9	0.62326	D	0.03	.	9.3203	0.37959	0.0:0.1468:0.0:0.8532	.	617	Q9UHI8	ATS1_HUMAN	I	617	ENSP00000284984:N617I	ENSP00000284984:N617I	N	-	2	0	ADAMTS1	27134067	1.000000	0.71417	0.429000	0.26710	0.882000	0.50991	4.650000	0.61440	1.045000	0.40225	0.533000	0.62120	AAT		0.433	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			31	72	0	0	0	1	0	31	72				
MYCBPAP	84073	broad.mit.edu	37	17	48606124	48606124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48606124G>T	ENST00000323776.5	+	17	2767	c.2605G>T	c.(2605-2607)Gga>Tga	p.G869*	MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.G832*	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGAGCGGAAAGGAGCAGCCCA	0.527																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(2605-2607)Gga>Tga		MYCBP associated protein							61.0	63.0	63.0					17																	48606124		2203	4300	6503	SO:0001587	stop_gained	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48606124G>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.2605G>T	17.37:g.48606124G>T	ENSP00000323184:p.Gly869*					MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.G832*	p.G869*	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		17	2767	+	Breast(11;1.23e-18)		832						Nonsense_Mutation	SNP	ENST00000323776.5	37	c.2605G>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	38	7.052068	0.98029	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	.	.	.	5.54	4.5	0.54988	.	0.682462	0.13900	N	0.354995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-19.0172	10.878	0.46923	0.0813:0.1461:0.7726:0.0	.	.	.	.	X	869;832	.	ENSP00000323184:G869X	G	+	1	0	MYCBPAP	45961123	0.977000	0.34250	0.050000	0.19076	0.673000	0.39480	1.795000	0.38784	2.606000	0.88127	0.655000	0.94253	GGA		0.527	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		15	25	1	0	1.15088e-07	1	1.32965e-07	15	25				
PYROXD1	79912	broad.mit.edu	37	12	21615024	21615024	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21615024A>G	ENST00000240651.9	+	9	1017	c.963A>G	c.(961-963)ccA>ccG	p.P321P	PYROXD1_ENST00000538582.1_Silent_p.P250P|PYROXD1_ENST00000545178.1_3'UTR	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	321							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GAGTTACACCAAATGTAGAAC	0.348																																						ENST00000538582.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						c.(748-750)ccA>ccG		pyridine nucleotide-disulphide oxidoreductase domain 1							111.0	100.0	104.0					12																	21615024		2203	4300	6503	SO:0001819	synonymous_variant	79912						oxidoreductase activity	g.chr12:21615024A>G	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.963A>G	12.37:g.21615024A>G						PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Silent_p.P321P	p.P250P			Q8WU10	PYRD1_HUMAN			9	1503	+			321					A6NKI6|B3KWN8|Q9H6P1	Silent	SNP	ENST00000240651.9	37	c.750A>G	CCDS31755.1																																																																																				0.348	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		8	31	0	0	0	1	0	8	31				
RBFA	79863	broad.mit.edu	37	18	77797377	77797377	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:77797377G>T	ENST00000306735.5	+	3	387	c.249G>T	c.(247-249)aaG>aaT	p.K83N	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.K83N	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	83					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GCACCTCAAAGAAAACCAGGA	0.532																																						ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(247-249)aaG>aaT		ribosome binding factor A (putative)							95.0	96.0	96.0					18																	77797377		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77797377G>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.249G>T	18.37:g.77797377G>T	ENSP00000305696:p.Lys83Asn					RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.K83N|RBFADN_ENST00000569722.1_Intron	p.K83N	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN			3	387	+			83					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.249G>T	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	8.961	0.970588	0.18659	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.44881	0.91;0.91	4.99	1.95	0.26073	.	0.489617	0.18730	N	0.132764	T	0.33294	0.0858	L	0.49126	1.545	0.09310	N	1	P;P	0.43352	0.804;0.716	B;B	0.40134	0.32;0.155	T	0.16364	-1.0405	10	0.49607	T	0.09	-0.1263	6.5774	0.22575	0.1765:0.1501:0.6734:0.0	.	83;83	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	N	83	ENSP00000262197:K83N;ENSP00000305696:K83N	ENSP00000262197:K83N	K	+	3	2	RBFA	75898365	0.265000	0.24102	0.016000	0.15963	0.368000	0.29767	0.438000	0.21559	1.105000	0.41606	0.555000	0.69702	AAG		0.532	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		35	76	1	0	1.36161e-19	1	1.85609e-19	35	76				
ABCC9	10060	broad.mit.edu	37	12	22025633	22025633	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22025633T>C	ENST00000261201.4	-	16	2123	c.2124A>G	c.(2122-2124)ggA>ggG	p.G708G	ABCC9_ENST00000261200.4_Silent_p.G708G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.G672G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	708	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ACTTCCCACATCCTACTTGGC	0.413																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2122-2124)ggA>ggG		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						239.0	232.0	234.0					12																	22025633		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22025633T>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2124A>G	12.37:g.22025633T>C						ABCC9_ENST00000345162.2_Silent_p.G672G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Silent_p.G708G	p.G708G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			16	2123	-			708			ABC transporter 1.		O60707	Silent	SNP	ENST00000261201.4	37	c.2124A>G	CCDS8694.1																																																																																				0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		61	95	0	0	0	1	0	61	95				
ZKSCAN4	387032	broad.mit.edu	37	6	28217588	28217588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28217588C>A	ENST00000377294.2	-	2	691	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZKSCAN4_ENST00000423974.2_5'UTR	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	150					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CAGAGCAGTTCTTGCCCCTGG	0.448																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(448-450)Gaa>Taa		zinc finger with KRAB and SCAN domains 4							229.0	210.0	216.0					6																	28217588		2203	4300	6503	SO:0001587	stop_gained	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28217588C>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.448G>T	6.37:g.28217588C>A	ENSP00000366509:p.Glu150*					ZKSCAN4_ENST00000423974.2_5'UTR	p.E150*	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			2	691	-			150					B2RE32|Q5U7L4	Nonsense_Mutation	SNP	ENST00000377294.2	37	c.448G>T	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403434	0.62288	.	.	ENSG00000187626	ENST00000377294	.	.	.	4.02	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.5794	0.22585	0.0:0.7484:0.0:0.2516	.	.	.	.	X	150	.	ENSP00000366509:E150X	E	-	1	0	ZKSCAN4	28325567	0.005000	0.15991	0.008000	0.14137	0.158000	0.22134	0.624000	0.24462	0.364000	0.24374	0.655000	0.94253	GAA		0.448	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		97	33	1	0	7.47877e-49	1	1.08552e-48	97	33				
FOXP1	27086	broad.mit.edu	37	3	71021810	71021810	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:71021810A>C	ENST00000318789.4	-	18	2073	c.1548T>G	c.(1546-1548)aaT>aaG	p.N516K	FOXP1_ENST00000475937.1_Missense_Mutation_p.N516K|FOXP1_ENST00000491238.1_Missense_Mutation_p.N518K|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000484350.1_Missense_Mutation_p.N440K|FOXP1_ENST00000498215.1_Missense_Mutation_p.N516K|FOXP1_ENST00000493089.1_Missense_Mutation_p.N515K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	516					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	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)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAAGACTAAGATTATGACGCA	0.378			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1546-1548)aaT>aaG		forkhead box P1							476.0	385.0	416.0					3																	71021810		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71021810A>C	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1548T>G	3.37:g.71021810A>C	ENSP00000318902:p.Asn516Lys					FOXP1_ENST00000493089.1_Missense_Mutation_p.N515K|FOXP1_ENST00000475937.1_Missense_Mutation_p.N516K|FOXP1_ENST00000498215.1_Missense_Mutation_p.N516K|FOXP1_ENST00000491238.1_Missense_Mutation_p.N518K|FOXP1_ENST00000484350.1_Missense_Mutation_p.N440K|FOXP1_ENST00000468577.1_Intron	p.N516K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	18	2073	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	516					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1548T>G	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.018167	0.54576	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350	D;D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	5.81	5.81	0.92471	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	H	0.99545	4.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;1.0;0.999	D	0.98837	1.0753	10	0.87932	D	0	.	10.7554	0.46234	0.9292:0.0:0.0708:0.0	.	515;515;440;516	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	K	516;328;516;412;518;515;516;440	ENSP00000318902:N516K;ENSP00000419393:N516K;ENSP00000418225:N412K;ENSP00000420736:N518K;ENSP00000418524:N515K;ENSP00000418102:N516K;ENSP00000417857:N440K	ENSP00000318902:N516K	N	-	3	2	FOXP1	71104500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.137000	0.64789	2.343000	0.79666	0.533000	0.62120	AAT		0.378	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		15	22	0	0	0	1	0	15	22				
CEP112	201134	broad.mit.edu	37	17	64001835	64001835	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:64001835T>C	ENST00000392769.2	-	17	1927	c.1709A>G	c.(1708-1710)aAa>aGa	p.K570R	CEP112_ENST00000535342.2_Missense_Mutation_p.K570R|CEP112_ENST00000541355.1_Missense_Mutation_p.K205R|CEP112_ENST00000537949.1_Missense_Mutation_p.K528R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	570					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTTATGAATTTTCTTTTGAGT	0.323																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(1708-1710)aAa>aGa		centrosomal protein 112kDa							65.0	65.0	65.0					17																	64001835		2202	4295	6497	SO:0001583	missense	201134					centrosome		g.chr17:64001835T>C	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1709A>G	17.37:g.64001835T>C	ENSP00000376522:p.Lys570Arg					CEP112_ENST00000541355.1_Missense_Mutation_p.K205R|CEP112_ENST00000535342.2_Missense_Mutation_p.K570R|CEP112_ENST00000537949.1_Missense_Mutation_p.K528R	p.K570R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			17	1927	-			570					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.1709A>G	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708642	0.48517	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.66	4.59	0.56863	.	0.269471	0.40302	N	0.001139	T	0.17959	0.0431	L	0.48362	1.52	0.30382	N	0.781847	B;B;B	0.23540	0.087;0.015;0.087	B;B;B	0.23018	0.043;0.016;0.043	T	0.11641	-1.0579	10	0.25751	T	0.34	-23.0116	9.3667	0.38228	0.0:0.0814:0.0:0.9186	.	528;528;570	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	R	570;570;205;528	ENSP00000442784:K570R;ENSP00000376522:K570R;ENSP00000443711:K205R;ENSP00000440775:K528R	ENSP00000376522:K570R	K	-	2	0	CEP112	61432297	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.923000	0.48868	1.094000	0.41399	0.528000	0.53228	AAA		0.323	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		8	16	0	0	0	1	0	8	16				
APEX1	328	broad.mit.edu	37	14	20925288	20925288	+	Missense_Mutation	SNP	G	G	A	rs367614890		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20925288G>A	ENST00000216714.3	+	5	846	c.578G>A	c.(577-579)cGc>cAc	p.R193H	APEX1_ENST00000398030.4_Missense_Mutation_p.R193H|APEX1_ENST00000555414.1_Missense_Mutation_p.R193H|APEX1_ENST00000557054.1_Missense_Mutation_p.A12T|APEX1_ENST00000557365.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|OSGEP_ENST00000556252.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	193					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)	p.R193H(1)		breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAAGCCTTTCGCAAGTTCCTG	0.542								Other BER factors																														ENST00000216714.3																			1	Substitution - Missense(1)	p.R193H(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(577-579)cGc>cAc	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	70.0	72.0	71.0		578,578,578	4.9	0.9	14		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	APEX1	NM_001641.3,NM_080648.2,NM_080649.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	193/319,193/319,193/319	20925288	1,13005	2203	4300	6503	SO:0001583	missense	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20925288G>A	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.578G>A	14.37:g.20925288G>A	ENSP00000216714:p.Arg193His					APEX1_ENST00000557054.1_Missense_Mutation_p.A12T|APEX1_ENST00000555414.1_Missense_Mutation_p.R193H|APEX1_ENST00000398030.4_Missense_Mutation_p.R193H|APEX1_ENST00000557365.1_3'UTR	p.R193H	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	846	+	all_cancers(95;0.00123)	all_lung(585;0.235)	193					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.578G>A	CCDS9550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.45|14.45	2.538819|2.538819	0.45176|0.45176	0.0|0.0	1.16E-4|1.16E-4	ENSG00000100823|ENSG00000100823	ENST00000438886|ENST00000555414;ENST00000216714;ENST00000553681;ENST00000398030;ENST00000555839	.|T;T;T;T;T	.|0.80994	.|-1.44;-1.44;-1.44;-1.44;-1.44	5.79|5.79	4.89|4.89	0.63831|0.63831	.|Endonuclease/exonuclease/phosphatase (2);	.|0.107146	.|0.64402	.|D	.|0.000004	T|T	0.78355|0.78355	0.4270|0.4270	L|L	0.57130|0.57130	1.785|1.785	0.80722|0.80722	D|D	1|1	.|B	.|0.19331	.|0.035	.|B	.|0.09377	.|0.004	T|T	0.75736|0.75736	-0.3213|-0.3213	5|10	.|0.72032	.|D	.|0.01	.|.	15.7814|15.7814	0.78264|0.78264	0.0:0.1369:0.8631:0.0|0.0:0.1369:0.8631:0.0	.|.	.|193	.|P27695	.|APEX1_HUMAN	T|H	120|193;193;193;193;164	.|ENSP00000451979:R193H;ENSP00000216714:R193H;ENSP00000451327:R193H;ENSP00000381111:R193H;ENSP00000452460:R164H	.|ENSP00000216714:R193H	A|R	+|+	1|2	0|0	APEX1|APEX1	19995128|19995128	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.967000|0.967000	0.64934|0.64934	4.380000|4.380000	0.59581|0.59581	1.420000|1.420000	0.47138|0.47138	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.542	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		18	29	0	0	0	1	0	18	29				
GABRA3	2556	broad.mit.edu	37	X	151424408	151424408	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151424408G>A	ENST00000370314.4	-	5	631	c.393C>T	c.(391-393)ggC>ggT	p.G131G	GABRA3_ENST00000535043.1_Silent_p.G131G	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	131					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTTCATGGGGCCATCAAATT	0.428																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(391-393)ggC>ggT		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						160.0	131.0	141.0					X																	151424408		2203	4300	6503	SO:0001819	synonymous_variant	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151424408G>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.393C>T	X.37:g.151424408G>A						GABRA3_ENST00000535043.1_Silent_p.G131G|GABRA3_ENST00000370311.1_Silent_p.G131G	p.G131G	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			5	631	-	Acute lymphoblastic leukemia(192;6.56e-05)		131					Q8TAF9	Silent	SNP	ENST00000370314.4	37	c.393C>T	CCDS14706.1																																																																																				0.428	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		27	83	0	0	0	1	0	27	83				
ARHGAP11A	9824	broad.mit.edu	37	15	32917394	32917394	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32917394G>A	ENST00000361627.3	+	5	1387	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.R222Q|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.R222Q|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.R33Q	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	222	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AAGAAGCTACGATTACAGGCT	0.358																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(664-666)cGa>cAa		Rho GTPase activating protein 11A							99.0	90.0	93.0					15																	32917394		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32917394G>A	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.665G>A	15.37:g.32917394G>A	ENSP00000355090:p.Arg222Gln					ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.R222Q|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.R222Q	p.R222Q	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	5	1387	+		all_lung(180;1.3e-11)	222			Rho-GAP.		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.665G>A	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	14.45	2.537976	0.45176	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T;T	0.41758	0.99;1.98	4.95	4.95	0.65309	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.45867	D	0.000328	T	0.58308	0.2113	L	0.43646	1.37	0.39647	D	0.970415	D;D	0.89917	0.993;1.0	P;D	0.91635	0.714;0.999	T	0.58885	-0.7557	10	0.44086	T	0.13	.	18.5578	0.91091	0.0:0.0:1.0:0.0	.	222;33	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	Q	222;33	ENSP00000355090:R222Q;ENSP00000440073:R33Q	ENSP00000355090:R222Q	R	+	2	0	ARHGAP11A	30704686	0.992000	0.36948	0.998000	0.56505	0.985000	0.73830	5.108000	0.64609	2.446000	0.82766	0.557000	0.71058	CGA		0.358	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		28	32	0	0	0	1	0	28	32				
TBX10	347853	broad.mit.edu	37	11	67400485	67400485	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67400485C>T	ENST00000335385.3	-	5	726	c.639G>A	c.(637-639)gaG>gaA	p.E213E		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	213					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						ACTTGAAGTTCTCCTGGGCAT	0.572																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(637-639)gaG>gaA		T-box 10							296.0	258.0	271.0					11																	67400485		2200	4294	6494	SO:0001819	synonymous_variant	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67400485C>T	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.639G>A	11.37:g.67400485C>T							p.E213E	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN			5	726	-			213					Q14D64|Q86XS3	Silent	SNP	ENST00000335385.3	37	c.639G>A	CCDS31621.1																																																																																				0.572	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		82	140	0	0	0	1	0	82	140				
ZNF85	7639	broad.mit.edu	37	19	21132912	21132912	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21132912T>G	ENST00000328178.8	+	4	1705	c.1592T>G	c.(1591-1593)aTt>aGt	p.I531S	ZNF85_ENST00000601023.1_Missense_Mutation_p.I472S|ZNF85_ENST00000345030.6_Missense_Mutation_p.I498S	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	531					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CATAAGAAAATTCATACTGGA	0.348																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(1414-1416)aTt>aGt		zinc finger protein 85							30.0	34.0	33.0					19																	21132912		2165	4274	6439	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132912T>G	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1592T>G	19.37:g.21132912T>G	ENSP00000329793:p.Ile531Ser					ZNF85_ENST00000328178.8_Missense_Mutation_p.I531S|ZNF85_ENST00000345030.6_Missense_Mutation_p.I498S	p.I472S			Q03923	ZNF85_HUMAN			2	2061	+			531					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1415T>G	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	7.549	0.662234	0.14645	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.00659	5.94;5.94	1.35	-0.749	0.11084	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00724	0.0024	L	0.28740	0.885	0.36037	D	0.839821	P;B;B	0.46784	0.884;0.048;0.048	B;B;B	0.40940	0.344;0.048;0.078	T	0.69026	-0.5254	9	0.72032	D	0.01	.	6.1533	0.20324	0.0:0.7471:0.0:0.2529	.	498;472;531	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	S	531;498;406	ENSP00000329793:I531S;ENSP00000342340:I498S	ENSP00000329793:I531S	I	+	2	0	ZNF85	20924752	0.000000	0.05858	0.106000	0.21319	0.269000	0.26545	0.024000	0.13555	-0.196000	0.10366	0.379000	0.24179	ATT		0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		19	23	0	0	0	1	0	19	23				
PDCL	5082	broad.mit.edu	37	9	125585323	125585323	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125585323T>C	ENST00000259467.4	-	3	491	c.326A>G	c.(325-327)aAa>aGa	p.K109R		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	109					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CTGGAGGTCTTTCTGTTTCTG	0.507																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(325-327)aAa>aGa		phosducin-like							262.0	218.0	233.0					9																	125585323		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125585323T>C	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.326A>G	9.37:g.125585323T>C	ENSP00000259467:p.Lys109Arg						p.K109R	NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN			3	491	-			109					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.326A>G	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116065	0.77323	.	.	ENSG00000136940	ENST00000259467	T	0.56103	0.48	5.98	3.66	0.41972	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.084523	0.85682	D	0.000000	T	0.52693	0.1750	M	0.70275	2.135	0.42006	D	0.990918	P;P	0.38395	0.629;0.629	B;B	0.40009	0.316;0.316	T	0.53892	-0.8374	10	0.66056	D	0.02	-26.7785	9.6923	0.40136	0.0:0.1395:0.0:0.8605	.	109;109	Q4VXB6;Q13371	.;PHLP_HUMAN	R	109	ENSP00000259467:K109R	ENSP00000259467:K109R	K	-	2	0	PDCL	124625144	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.998000	0.49465	0.522000	0.28464	-0.371000	0.07208	AAA		0.507	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		58	87	0	0	0	1	0	58	87				
MNS1	55329	broad.mit.edu	37	15	56748713	56748713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:56748713C>A	ENST00000260453.3	-	3	396	c.232G>T	c.(232-234)Gaa>Taa	p.E78*		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	78	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.E78*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTCTTGTTTTCTTCTGCCTGA	0.333																																						ENST00000260453.3																			1	Substitution - Nonsense(1)	p.E78*(1)	pancreas(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(232-234)Gaa>Taa		meiosis-specific nuclear structural 1							149.0	136.0	140.0					15																	56748713		2191	4291	6482	SO:0001587	stop_gained	55329				meiosis			g.chr15:56748713C>A	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.232G>T	15.37:g.56748713C>A	ENSP00000260453:p.Glu78*						p.E78*	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	3	396	-			78			Glu-rich.		Q8IYT6|Q9NUP4	Nonsense_Mutation	SNP	ENST00000260453.3	37	c.232G>T	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	C	38	6.978381	0.97979	.	.	ENSG00000138587	ENST00000260453	.	.	.	5.87	5.87	0.94306	.	0.043050	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-16.6937	18.0718	0.89410	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000260453:E78X	E	-	1	0	MNS1	54536005	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.673000	0.68109	2.941000	0.99782	0.655000	0.94253	GAA		0.333	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		6	28	1	0	5.18039e-06	1	5.75679e-06	6	28				
MAP3K6	9064	broad.mit.edu	37	1	27683511	27683511	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27683511A>G	ENST00000493901.1	-	25	3592	c.3353T>C	c.(3352-3354)gTg>gCg	p.V1118A	MAP3K6_ENST00000357582.2_Missense_Mutation_p.V1118A|MAP3K6_ENST00000374040.3_Missense_Mutation_p.V1110A	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1118					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGGTCCTAGCACACCCAGGGC	0.662																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(3328-3330)gTg>gCg		mitogen-activated protein kinase kinase kinase 6							40.0	40.0	40.0					1																	27683511		2202	4300	6502	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27683511A>G	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3353T>C	1.37:g.27683511A>G	ENSP00000419591:p.Val1118Ala					MAP3K6_ENST00000493901.1_Missense_Mutation_p.V1118A|MAP3K6_ENST00000357582.2_Missense_Mutation_p.V1118A	p.V1110A			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	23	3589	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1118					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.3329T>C	CCDS299.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984179	0.74474	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.72051	-0.62;-0.62;-0.62	5.33	4.21	0.49690	.	.	.	.	.	T	0.65863	0.2732	L	0.59436	1.845	0.36837	D	0.887206	B;B	0.12630	0.006;0.004	B;B	0.13407	0.009;0.004	T	0.66626	-0.5876	9	0.72032	D	0.01	.	10.2039	0.43101	0.9203:0.0:0.0797:0.0	.	1110;1118	O95382-3;O95382	.;M3K6_HUMAN	A	1110;1118;1118	ENSP00000363152:V1110A;ENSP00000419591:V1118A;ENSP00000350195:V1118A	ENSP00000350195:V1118A	V	-	2	0	MAP3K6	27556098	1.000000	0.71417	0.137000	0.22149	0.587000	0.36485	3.809000	0.55606	0.869000	0.35703	0.459000	0.35465	GTG		0.662	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		14	29	0	0	0	1	0	14	29				
GPR98	84059	broad.mit.edu	37	5	90151704	90151704	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90151704T>G	ENST00000405460.2	+	82	17837	c.17741T>G	c.(17740-17742)tTt>tGt	p.F5914C	GPR98_ENST00000425867.2_Missense_Mutation_p.F1575C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5914					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTTCTGGATTTATATGTATC	0.363																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17740-17742)tTt>tGt		G protein-coupled receptor 98							166.0	153.0	157.0					5																	90151704		1890	4113	6003	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90151704T>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17741T>G	5.37:g.90151704T>G	ENSP00000384582:p.Phe5914Cys					GPR98_ENST00000425867.2_Missense_Mutation_p.F1575C	p.F5914C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	82	17837	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5914					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17741T>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549460	0.86127	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.30182	1.56;1.54	5.49	5.49	0.81192	GPCR, family 2-like (1);	0.091829	0.85682	D	0.000000	T	0.50480	0.1618	L	0.56769	1.78	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.998	P;D;P	0.66847	0.905;0.947;0.847	T	0.44544	-0.9321	9	.	.	.	.	15.8828	0.79216	0.0:0.0:0.0:1.0	.	1575;5914;1575	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	C	5914;5914;1575	ENSP00000384582:F5914C;ENSP00000392618:F1575C	.	F	+	2	0	GPR98	90187460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.310000	0.78947	2.213000	0.71641	0.477000	0.44152	TTT		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	41	0	0	0	1	0	16	41				
VN1R2	317701	broad.mit.edu	37	19	53762646	53762646	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53762646C>A	ENST00000341702.3	+	1	1102	c.1018C>A	c.(1018-1020)Ctc>Atc	p.L340I	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	340					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTATTTAGCTCTCTTCGATAA	0.463																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1018-1020)Ctc>Atc		vomeronasal 1 receptor 2							256.0	228.0	238.0					19																	53762646		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762646C>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1018C>A	19.37:g.53762646C>A	ENSP00000351244:p.Leu340Ile					VN1R2_ENST00000598458.1_Intron	p.L340I	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1102	+			340					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.1018C>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215548	0.39102	.	.	ENSG00000196131	ENST00000341702	T	0.39592	1.07	2.61	0.0492	0.14288	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39989	0.1099	L	0.46157	1.445	0.09310	N	1	P	0.42248	0.774	P	0.48089	0.566	T	0.29058	-1.0024	9	0.56958	D	0.05	.	4.7776	0.13187	0.2134:0.423:0.3635:0.0	.	340	Q8NFZ6	VN1R2_HUMAN	I	340	ENSP00000351244:L340I	ENSP00000351244:L340I	L	+	1	0	VN1R2	58454458	0.000000	0.05858	0.002000	0.10522	0.391000	0.30476	-3.581000	0.00424	0.108000	0.17862	-0.278000	0.10074	CTC		0.463	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		51	98	1	0	6.08268e-21	1	8.37076e-21	51	98				
MYBPC3	4607	broad.mit.edu	37	11	47364690	47364690	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47364690G>T	ENST00000545968.1	-	15	1287	c.1233C>A	c.(1231-1233)atC>atA	p.I411I	MYBPC3_ENST00000256993.4_Silent_p.I410I|MYBPC3_ENST00000399249.2_Silent_p.I411I	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	411	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGACTCAAAGATGTACCTGG	0.642																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(1231-1233)atC>atA		myosin binding protein C, cardiac							34.0	39.0	37.0					11																	47364690		2086	4200	6286	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47364690G>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1233C>A	11.37:g.47364690G>T						MYBPC3_ENST00000545968.1_Silent_p.I411I|MYBPC3_ENST00000256993.4_Silent_p.I410I	p.I411I			Q14896	MYPC3_HUMAN		Lung(87;0.176)	14	1287	-			410			Ig-like C2-type 2.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.1233C>A	CCDS53621.1																																																																																				0.642	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			8	17	1	0	0.00307968	1	0.00320271	8	17				
CRYAB	1410	broad.mit.edu	37	11	111779674	111779674	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:111779674G>T	ENST00000533475.1	-	4	791	c.342C>A	c.(340-342)atC>atA	p.I114I	CRYAB_ENST00000525823.1_Silent_p.I47I|CRYAB_ENST00000227251.3_Silent_p.I114I|CRYAB_ENST00000533280.1_Silent_p.I47I|CRYAB_ENST00000527950.1_Silent_p.I114I|CRYAB_ENST00000526180.1_Silent_p.I114I|CRYAB_ENST00000531198.1_Silent_p.I114I	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	114					aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		ACTCCCTGGAGATGAAACCAT	0.473																																						ENST00000533475.1																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8						c.(340-342)atC>atA		crystallin, alpha B							82.0	75.0	77.0					11																	111779674		2201	4297	6498	SO:0001819	synonymous_variant	1410				anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	g.chr11:111779674G>T		CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"""Heat shock proteins / HSPB"""	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.342C>A	11.37:g.111779674G>T						CRYAB_ENST00000531198.1_Silent_p.I114I|CRYAB_ENST00000526180.1_Silent_p.I114I|CRYAB_ENST00000525823.1_Silent_p.I47I|CRYAB_ENST00000533280.1_Silent_p.I47I|CRYAB_ENST00000527950.1_Silent_p.I114I|CRYAB_ENST00000227251.3_Silent_p.I114I	p.I114I	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	4	791	-		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	114					B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Silent	SNP	ENST00000533475.1	37	c.342C>A	CCDS8351.1	.	.	.	.	.	.	.	.	.	.	G	8.473	0.858106	0.17178	.	.	ENSG00000109846	ENST00000524660	.	.	.	5.73	3.64	0.41730	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52373	-0.8584	4	.	.	.	-15.7033	8.6943	0.34287	0.3302:0.0:0.6698:0.0	.	.	.	.	I	45	.	.	L	-	1	0	CRYAB	111284884	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.197000	0.17197	0.596000	0.29794	0.655000	0.94253	CTC		0.473	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391658.1			11	34	1	0	0.0692343	1	0.0701576	11	34				
CCDC129	223075	broad.mit.edu	37	7	31617807	31617807	+	Missense_Mutation	SNP	C	C	A	rs373943918		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31617807C>A	ENST00000407970.3	+	8	967	c.929C>A	c.(928-930)tCt>tAt	p.S310Y	CCDC129_ENST00000451887.2_Missense_Mutation_p.S336Y|CCDC129_ENST00000409210.1_Missense_Mutation_p.S218Y|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	310										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AATCATTTGTCTCTGTCAGTA	0.453																																						ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(652-654)tCt>tAt		coiled-coil domain containing 129							66.0	68.0	67.0					7																	31617807		2144	4268	6412	SO:0001583	missense	223075							g.chr7:31617807C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.929C>A	7.37:g.31617807C>A	ENSP00000384416:p.Ser310Tyr					CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.S310Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.S336Y	p.S218Y			Q6ZRS4	CC129_HUMAN			6	837	+			310					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.653C>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149548	0.37923	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.18338	2.49;2.48;2.22	5.08	2.05	0.26809	.	.	.	.	.	T	0.32315	0.0825	L	0.60455	1.87	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66847	0.947;0.947;0.947	T	0.05115	-1.0905	8	.	.	.	-1.5416	8.7665	0.34706	0.0:0.6339:0.284:0.0821	.	336;320;310	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	Y	310;336;320;218	ENSP00000384416:S310Y;ENSP00000395835:S336Y;ENSP00000387214:S218Y	.	S	+	2	0	CCDC129	31584332	0.003000	0.15002	0.027000	0.17364	0.020000	0.10135	-0.076000	0.11412	0.802000	0.34089	0.655000	0.94253	TCT		0.453	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		23	14	1	0	3.8784e-16	1	5.13982e-16	23	14				
MYH2	4620	broad.mit.edu	37	17	10427885	10427885	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10427885G>A	ENST00000245503.5	-	35	5457	c.5073C>T	c.(5071-5073)atC>atT	p.I1691I	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.I1691I|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1691					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAGCTCCTCGATCTCAGCCT	0.592																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5071-5073)atC>atT		myosin, heavy chain 2, skeletal muscle, adult							90.0	84.0	86.0					17																	10427885		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427885G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5073C>T	17.37:g.10427885G>A						MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1691I|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.I1691I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			35	5457	-			1691					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.5073C>T	CCDS11156.1																																																																																				0.592	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		26	58	0	0	0	1	0	26	58				
EXOC1	55763	broad.mit.edu	37	4	56730415	56730415	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56730415A>G	ENST00000381295.2	+	4	626	c.278A>G	c.(277-279)cAc>cGc	p.H93R	EXOC1_ENST00000346134.7_Missense_Mutation_p.H93R|EXOC1_ENST00000349598.6_Missense_Mutation_p.H93R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	93					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTGATTTACACTTTGAAAAA	0.289																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(277-279)cAc>cGc		exocyst complex component 1							20.0	21.0	21.0					4																	56730415		2199	4294	6493	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56730415A>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.278A>G	4.37:g.56730415A>G	ENSP00000370695:p.His93Arg					EXOC1_ENST00000346134.7_Missense_Mutation_p.H93R|EXOC1_ENST00000349598.6_Missense_Mutation_p.H93R	p.H93R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			4	626	+	Glioma(25;0.08)|all_neural(26;0.101)		93					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.278A>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739221	0.49045	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.04	5.04	0.67666	.	0.049180	0.85682	D	0.000000	T	0.55081	0.1898	L	0.41824	1.3	0.58432	D	0.999999	B;B	0.26195	0.144;0.007	B;B	0.30782	0.12;0.02	T	0.51490	-0.8699	9	0.25106	T	0.35	.	15.0607	0.71951	1.0:0.0:0.0:0.0	.	93;93	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	R	93	.	ENSP00000326514:H93R	H	+	2	0	EXOC1	56425172	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.910000	0.92685	2.026000	0.59711	0.455000	0.32223	CAC		0.289	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		7	7	0	0	0	1	0	7	7				
PDE3B	5140	broad.mit.edu	37	11	14666087	14666087	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:14666087G>T	ENST00000282096.4	+	1	819	c.466G>T	c.(466-468)Gcg>Tcg	p.A156S	PDE3B_ENST00000455098.2_Missense_Mutation_p.A156S|PDE3B_ENST00000534317.1_3'UTR|PSMA1_ENST00000418988.2_5'Flank	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	156					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GTGGCTGCTGGCGCTGCCCGC	0.701																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(466-468)Gcg>Tcg		phosphodiesterase 3B, cGMP-inhibited							15.0	16.0	16.0					11																	14666087		2189	4283	6472	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14666087G>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.466G>T	11.37:g.14666087G>T	ENSP00000282096:p.Ala156Ser					PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.A156S	p.A156S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			1	819	+			156					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.466G>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294982	0.40594	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.63096	0.05;-0.02	4.02	3.02	0.34903	.	21.326800	0.00166	N	0.000001	T	0.56485	0.1988	L	0.32530	0.975	0.36307	D	0.857413	P;P;P	0.38473	0.633;0.633;0.633	B;B;B	0.36186	0.108;0.108;0.219	T	0.54853	-0.8231	10	0.52906	T	0.07	.	11.9113	0.52741	0.0:0.0:0.8251:0.1749	.	156;156;156	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	S	156	ENSP00000282096:A156S;ENSP00000388644:A156S	ENSP00000282096:A156S	A	+	1	0	PDE3B	14622663	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.852000	0.48310	1.787000	0.52448	0.462000	0.41574	GCG		0.701	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		9	19	1	0	3.09899e-07	1	3.54467e-07	9	19				
SNCG	6623	broad.mit.edu	37	10	88719763	88719763	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88719763G>A	ENST00000372017.3	+	3	211	c.169G>A	c.(169-171)Gag>Aag	p.E57K	SNCG_ENST00000483064.1_3'UTR|SNCG_ENST00000348795.4_Missense_Mutation_p.R74Q|MMRN2_ENST00000372027.5_5'Flank	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	57	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).				adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						CATAGTGGCCGAGAAGACCAA	0.667																																						ENST00000372017.3																			0				endometrium(1)|skin(1)	2						c.(169-171)Gag>Aag		synuclein, gamma (breast cancer-specific protein 1)							70.0	55.0	60.0					10																	88719763		2196	4298	6494	SO:0001583	missense	6623					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding	g.chr10:88719763G>A	AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"""synoretin"""	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.169G>A	10.37:g.88719763G>A	ENSP00000361087:p.Glu57Lys					SNCG_ENST00000483064.1_3'UTR|SNCG_ENST00000348795.4_Missense_Mutation_p.R74Q	p.E57K	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN			3	211	+			57			4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).		O15104|Q96P61	Missense_Mutation	SNP	ENST00000372017.3	37	c.169G>A	CCDS7380.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.354163|4.354163	0.82243|0.82243	.|.	.|.	ENSG00000173267|ENSG00000173267	ENST00000372017|ENST00000348795	D|D	0.87650|0.88431	-2.28|-2.38	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.215575|.	0.48286|.	D|.	0.000196|.	D|D	0.94079|0.94079	0.8102|0.8102	M|M	0.82517|0.82517	2.595|2.595	0.43426|0.43426	D|D	0.995586|0.995586	D|.	0.58970|.	0.984|.	B|.	0.43274|.	0.414|.	D|D	0.94850|0.94850	0.8013|0.8013	10|7	0.66056|0.87932	D|D	0.02|0	-0.8935|-0.8935	17.0709|17.0709	0.86573|0.86573	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	57|.	O76070|.	SYUG_HUMAN|.	K|Q	57|74	ENSP00000361087:E57K|ENSP00000344658:R74Q	ENSP00000361087:E57K|ENSP00000344658:R74Q	E|R	+|+	1|2	0|0	SNCG|SNCG	88709743|88709743	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.794000|0.794000	0.44872|0.44872	2.742000|2.742000	0.47434|0.47434	2.548000|2.548000	0.85928|0.85928	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.667	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049167.1			7	9	0	0	0	1	0	7	9				
PRCP	5547	broad.mit.edu	37	11	82564263	82564263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82564263G>A	ENST00000313010.3	-	3	561	c.367C>T	c.(367-369)Cga>Tga	p.R123*	PRCP_ENST00000535099.1_Nonsense_Mutation_p.R18*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.R144*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	123					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCATAGTATCGATGTTCAGCA	0.363																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(367-369)Cga>Tga		prolylcarboxypeptidase (angiotensinase C)							115.0	99.0	105.0					11																	82564263		2203	4300	6503	SO:0001587	stop_gained	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82564263G>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.367C>T	11.37:g.82564263G>A	ENSP00000317362:p.Arg123*					PRCP_ENST00000535099.1_Nonsense_Mutation_p.R18*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.R144*	p.R123*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			3	561	-			123					A8MU24|B2R7B7|B3KRK5|B5BU34	Nonsense_Mutation	SNP	ENST00000313010.3	37	c.367C>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932848	0.92458	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126;ENST00000534264	.	.	.	5.27	3.36	0.38483	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4589	13.8337	0.63398	0.0:0.0:0.5315:0.4685	.	.	.	.	X	123;144;18;18;18;18;18;18;82;18;69;18;18	.	.	R	-	1	2	PRCP	82241911	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	2.206000	0.42779	0.571000	0.29365	0.650000	0.86243	CGA		0.363	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		8	26	0	0	0	1	0	8	26				
ADAMTS3	9508	broad.mit.edu	37	4	73161417	73161417	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:73161417T>C	ENST00000286657.4	-	19	2713	c.2677A>G	c.(2677-2679)Aaa>Gaa	p.K893E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	893	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAATAGGTTTCGGCTTTTTG	0.393																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2677-2679)Aaa>Gaa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							242.0	204.0	217.0					4																	73161417		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73161417T>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2677A>G	4.37:g.73161417T>C	ENSP00000286657:p.Lys893Glu						p.K893E	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		19	2713	-			893			TSP type-1 2.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2677A>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.810195	0.90707	.	.	ENSG00000156140	ENST00000286657	T	0.60548	0.18	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	L	0.28608	0.87	0.80722	D	1	P	0.49447	0.924	P	0.60415	0.874	T	0.53180	-0.8475	10	0.10902	T	0.67	.	14.9595	0.71144	0.0:0.0:0.0:1.0	.	893	O15072	ATS3_HUMAN	E	893	ENSP00000286657:K893E	ENSP00000286657:K893E	K	-	1	0	ADAMTS3	73380281	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	7.937000	0.87672	1.927000	0.55829	0.528000	0.53228	AAA		0.393	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			8	51	0	0	0	1	0	8	51				
SREBF2	6721	broad.mit.edu	37	22	42273340	42273340	+	Silent	SNP	T	T	G	rs142090611	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42273340T>G	ENST00000361204.4	+	8	1660	c.1494T>G	c.(1492-1494)acT>acG	p.T498T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	498					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACCCCCTGACTTCCCTGCTGC	0.617																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1492-1494)acT>acG		sterol regulatory element binding transcription factor 2							108.0	105.0	106.0					22																	42273340		2203	4300	6503	SO:0001819	synonymous_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42273340T>G	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1494T>G	22.37:g.42273340T>G							p.T498T	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			8	1660	+			498					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	c.1494T>G	CCDS14023.1																																																																																				0.617	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		8	91	0	0	0	1	0	8	91				
CACNA1D	776	broad.mit.edu	37	3	53783418	53783418	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53783418C>A	ENST00000350061.5	+	27	3949	c.3438C>A	c.(3436-3438)atC>atA	p.I1146I	CACNA1D_ENST00000288139.4_Silent_p.I1166I|CACNA1D_ENST00000422281.2_Silent_p.I1146I|CACNA1D_ENST00000540742.1_Silent_p.I53I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1146	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGATGAACATCTTTGTGGGCT	0.413																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3496-3498)atC>atA		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						154.0	133.0	140.0					3																	53783418		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53783418C>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3438C>A	3.37:g.53783418C>A						CACNA1D_ENST00000540742.1_Silent_p.I53I|CACNA1D_ENST00000422281.2_Silent_p.I1146I|CACNA1D_ENST00000350061.5_Silent_p.I1146I	p.I1166I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	28	3616	+			1146					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.3498C>A	CCDS46848.1																																																																																				0.413	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		12	65	1	0	1.08611e-07	1	1.25818e-07	12	65				
SUPT16H	11198	broad.mit.edu	37	14	21828672	21828672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21828672G>A	ENST00000216297.2	-	18	2415	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	693					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTGTCTCCTCGAACAGATGTG	0.408																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2077-2079)Cga>Tga		suppressor of Ty 16 homolog (S. cerevisiae)							98.0	96.0	97.0					14																	21828672		2203	4300	6503	SO:0001587	stop_gained	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21828672G>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2077C>T	14.37:g.21828672G>A	ENSP00000216297:p.Arg693*						p.R693*	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	18	2415	-	all_cancers(95;0.00115)		693					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Nonsense_Mutation	SNP	ENST00000216297.2	37	c.2077C>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	42	9.532901	0.99198	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.763	13.3437	0.60559	0.0769:0.0:0.9231:0.0	.	.	.	.	X	693	.	ENSP00000216297:R693X	R	-	1	2	SUPT16H	20898512	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.611000	0.90905	1.373000	0.46208	0.655000	0.94253	CGA		0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			20	46	0	0	0	1	0	20	46				
MYH6	4624	broad.mit.edu	37	14	23874928	23874928	+	Missense_Mutation	SNP	C	C	T	rs397516758		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23874928C>T	ENST00000356287.3	-	3	282	c.253G>A	c.(253-255)Gac>Aac	p.D85N	MYH6_ENST00000405093.3_Missense_Mutation_p.D85N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	85	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCAATCTTGTCGAACTTGGGT	0.582																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(253-255)Gac>Aac		myosin, heavy chain 6, cardiac muscle, alpha							271.0	188.0	216.0					14																	23874928		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23874928C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.253G>A	14.37:g.23874928C>T	ENSP00000348634:p.Asp85Asn					MYH6_ENST00000356287.3_Missense_Mutation_p.D85N	p.D85N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	4	323	-	all_cancers(95;2.54e-05)		85			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.253G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.257554	0.80246	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.72282	-0.64;-0.64	3.87	3.87	0.44632	Myosin head, motor domain (1);	.	.	.	.	T	0.72755	0.3500	M	0.74647	2.275	0.58432	D	0.999995	B;B	0.25563	0.129;0.129	B;B	0.29862	0.108;0.108	T	0.76377	-0.2981	9	0.72032	D	0.01	.	16.019	0.80468	0.0:1.0:0.0:0.0	.	85;85	D9YZU2;P13533	.;MYH6_HUMAN	N	85	ENSP00000386041:D85N;ENSP00000348634:D85N	ENSP00000348634:D85N	D	-	1	0	MYH6	22944768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.474000	0.81024	2.146000	0.66826	0.550000	0.68814	GAC		0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			33	74	0	0	0	1	0	33	74				
TXN	7295	broad.mit.edu	37	9	113013138	113013138	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:113013138T>C	ENST00000374517.5	-	3	355	c.151A>G	c.(151-153)Aac>Gac	p.N51D	TXN_ENST00000374515.5_Intron	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	51	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		AATATCACGTTGGAATACTTT	0.363																																						ENST00000374517.5																			0				kidney(1)|skin(1)	2						c.(151-153)Aac>Gac		thioredoxin							85.0	81.0	83.0					9																	113013138		2203	4300	6503	SO:0001583	missense	7295				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:113013138T>C	X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.151A>G	9.37:g.113013138T>C	ENSP00000363641:p.Asn51Asp					TXN_ENST00000374515.5_Intron	p.N51D	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)	3	355	-			51			Thioredoxin.		B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	Missense_Mutation	SNP	ENST00000374517.5	37	c.151A>G	CCDS35103.1	.	.	.	.	.	.	.	.	.	.	T	1.748	-0.489951	0.04322	.	.	ENSG00000136810	ENST00000374517	T	0.03181	4.02	6.17	1.11	0.20524	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.364262	0.29900	N	0.010906	T	0.01320	0.0043	N	0.03084	-0.415	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.47661	-0.9100	10	0.09084	T	0.74	-3.7591	3.9651	0.09428	0.0:0.3157:0.186:0.4983	.	51	P10599	THIO_HUMAN	D	51	ENSP00000363641:N51D	ENSP00000363641:N51D	N	-	1	0	TXN	112052959	0.065000	0.20965	0.249000	0.24280	0.932000	0.56968	0.790000	0.26900	0.190000	0.20209	-0.313000	0.08912	AAC		0.363	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053614.1			6	31	0	0	0	1	0	6	31				
ZFP37	7539	broad.mit.edu	37	9	115805272	115805272	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115805272C>A	ENST00000374227.3	-	4	1653	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	ZFP37_ENST00000553380.1_Missense_Mutation_p.E557D|ZFP37_ENST00000555206.1_Missense_Mutation_p.E543D	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CATACGGTTTCTCTCCAGTAT	0.398																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1624-1626)gaG>gaT		ZFP37 zinc finger protein							80.0	75.0	77.0					9																	115805272		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805272C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1626G>T	9.37:g.115805272C>A	ENSP00000363344:p.Glu542Asp					ZFP37_ENST00000553380.1_Missense_Mutation_p.E557D|ZFP37_ENST00000555206.1_Missense_Mutation_p.E543D	p.E542D			Q9Y6Q3	ZFP37_HUMAN			4	1653	-			542					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1626G>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630814	0.28978	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.26810	1.71;1.71;1.71	4.43	0.569	0.17340	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000435	T	0.31389	0.0795	L	0.31294	0.92	0.29497	N	0.855236	D;D;D	0.76494	0.979;0.979;0.999	P;P;D	0.69142	0.672;0.672;0.962	T	0.12785	-1.0534	10	0.66056	D	0.02	-17.5536	8.3699	0.32408	0.0:0.6527:0.0:0.3473	.	543;557;542	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	D	542;543;557	ENSP00000363344:E542D;ENSP00000451310:E543D;ENSP00000452552:E557D	ENSP00000363344:E542D	E	-	3	2	ZFP37	114845093	0.944000	0.32072	0.998000	0.56505	0.899000	0.52679	0.102000	0.15272	0.106000	0.17784	-0.150000	0.13652	GAG		0.398	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		18	30	1	0	1.02788e-11	1	1.28326e-11	18	30				
EPHB1	2047	broad.mit.edu	37	3	134880997	134880997	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:134880997G>A	ENST00000398015.3	+	7	1930	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	EPHB1_ENST00000493838.1_Silent_p.K81K	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	520	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCAGTGGCAAGATGTGCTTCC	0.567																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1558-1560)aaG>aaA		EPH receptor B1							92.0	98.0	96.0					3																	134880997		2170	4279	6449	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134880997G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1560G>A	3.37:g.134880997G>A						EPHB1_ENST00000493838.1_Silent_p.K81K	p.K520K	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			7	1930	+			520			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1560G>A	CCDS46921.1																																																																																				0.567	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		24	51	0	0	0	1	0	24	51				
FAM179B	23116	broad.mit.edu	37	14	45535797	45535797	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45535797C>T	ENST00000361577.3	+	16	4631	c.4417C>T	c.(4417-4419)Cgt>Tgt	p.R1473C	FAM179B_ENST00000361462.2_Missense_Mutation_p.R1526C|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1473										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AACTGAAGTTCGTGAAGTCAC	0.323																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(4576-4578)Cgt>Tgt		family with sequence similarity 179, member B							106.0	107.0	107.0					14																	45535797		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45535797C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4417C>T	14.37:g.45535797C>T	ENSP00000355045:p.Arg1473Cys					FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.R1473C	p.R1526C			Q9Y4F4	F179B_HUMAN			17	4759	+			1473					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.4576C>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500179	0.85176	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.19806	2.12;2.12	5.77	5.77	0.91146	Armadillo-type fold (1);	0.229018	0.45606	D	0.000358	T	0.36468	0.0968	L	0.56769	1.78	0.80722	D	1	D;D	0.65815	0.995;0.99	P;P	0.52710	0.707;0.702	T	0.05162	-1.0902	10	0.87932	D	0	-5.2786	17.7624	0.88468	0.0:1.0:0.0:0.0	.	1526;1473	G3XAE9;Q9Y4F4	.;F179B_HUMAN	C	1473;1526	ENSP00000355045:R1473C;ENSP00000354917:R1526C	ENSP00000354917:R1526C	R	+	1	0	FAM179B	44605547	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	3.139000	0.50577	2.726000	0.93360	0.561000	0.74099	CGT		0.323	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		16	31	0	0	0	1	0	16	31				
CELSR2	1952	broad.mit.edu	37	1	109815829	109815829	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109815829T>G	ENST00000271332.3	+	32	8441	c.8380T>G	c.(8380-8382)Ttt>Gtt	p.F2794V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2794					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCAGGAGACTTTGGGACCAC	0.652																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(8380-8382)Ttt>Gtt		cadherin, EGF LAG seven-pass G-type receptor 2							43.0	55.0	51.0					1																	109815829		2203	4299	6502	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109815829T>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8380T>G	1.37:g.109815829T>G	ENSP00000271332:p.Phe2794Val					CELSR2_ENST00000498157.1_3'UTR	p.F2794V	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	32	8441	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2794					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.8380T>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478062	0.26511	.	.	ENSG00000143126	ENST00000271332	T	0.65364	-0.15	4.52	4.52	0.55395	.	.	.	.	.	T	0.37705	0.1013	N	0.22421	0.69	0.38959	D	0.958515	P	0.48350	0.909	P	0.48704	0.587	T	0.20706	-1.0267	9	0.15952	T	0.53	.	11.6446	0.51253	0.0:0.0:0.0:1.0	.	2794	Q9HCU4	CELR2_HUMAN	V	2794	ENSP00000271332:F2794V	ENSP00000271332:F2794V	F	+	1	0	CELSR2	109617352	0.643000	0.27269	1.000000	0.80357	0.985000	0.73830	1.963000	0.40452	1.801000	0.52704	0.459000	0.35465	TTT		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	70	0	0	0	1	0	4	70				
RP1-274L7.1	0	broad.mit.edu	37	X	129629094	129629094	+	lincRNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129629094G>T	ENST00000458525.1	-	0	1093				FAM45B_ENST00000592932.1_RNA																							GGGAAGGAAAGAAAATTACCT	0.562																																						ENST00000458525.1																			0																				26.0	27.0	27.0					X																	129629094		2196	4288	6484			0							g.chrX:129629094G>T																													X.37:g.129629094G>T						FAM45B_ENST00000592932.1_RNA								0	1093	-									RNA	SNP	ENST00000458525.1	37																																																																																						0.562	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1			9	16	1	0	1.12685e-05	1	1.24509e-05	9	16				
USH2A	7399	broad.mit.edu	37	1	215820898	215820898	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215820898A>C	ENST00000307340.3	-	67	15143	c.14757T>G	c.(14755-14757)gcT>gcG	p.A4919A	USH2A_ENST00000366943.2_Silent_p.A4919A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4919	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCACTCGGAAGCCGTACTGC	0.547										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14755-14757)gcT>gcG		Usher syndrome 2A (autosomal recessive, mild)							96.0	79.0	84.0					1																	215820898		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215820898A>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14757T>G	1.37:g.215820898A>C		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.A4919A	p.A4919A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	67	15143	-			4919			Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.14757T>G	CCDS31025.1																																																																																				0.547	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	56	0	0	0	1	0	4	56				
DOCK9	23348	broad.mit.edu	37	13	99667807	99667807	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:99667807C>A	ENST00000448493.2	-	1	166	c.56G>T	c.(55-57)aGa>aTa	p.R19I	DOCK9_ENST00000339416.2_Intron			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCACAGTTTCTTTCAAAAAC	0.398																																						ENST00000448493.2																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(55-57)aGa>aTa		dedicator of cytokinesis 9							80.0	71.0	74.0					13																	99667807		876	1991	2867	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99667807C>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000448493.2:c.56G>T	13.37:g.99667807C>A	ENSP00000401958:p.Arg19Ile					DOCK9_ENST00000339416.2_Intron	p.R19I			Q9BZ29	DOCK9_HUMAN			1	166	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		0					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000448493.2	37	c.56G>T		.	.	.	.	.	.	.	.	.	.	C	16.40	3.111641	0.56398	.	.	ENSG00000088387	ENST00000448493	T	0.21031	2.03	5.91	5.91	0.95273	.	.	.	.	.	T	0.43656	0.1257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03325	-1.1048	5	.	.	.	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	I	19	ENSP00000401958:R19I	.	R	-	2	0	DOCK9	98465808	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.677000	0.68142	2.793000	0.96121	0.655000	0.94253	AGA		0.398	DOCK9-203	KNOWN	basic	protein_coding	protein_coding		NM_015296		11	20	1	0	3.07112e-06	1	3.42433e-06	11	20				
WNT8B	7479	broad.mit.edu	37	10	102242045	102242045	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:102242045G>T	ENST00000343737.5	+	6	656	c.528G>T	c.(526-528)atG>atT	p.M176I		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	176					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AGGGCACCATGAAACGCACGT	0.637											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343737.5																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(526-528)atG>atT		wingless-type MMTV integration site family, member 8B							17.0	18.0	18.0					10																	102242045		2195	4279	6474	SO:0001583	missense	7479				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr10:102242045G>T	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.528G>T	10.37:g.102242045G>T	ENSP00000340677:p.Met176Ile		OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1365		p.M176I	NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	6	656	+		Colorectal(252;0.117)	176					O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	37	c.528G>T	CCDS7494.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684668	0.88639	.	.	ENSG00000075290	ENST00000343737	T	0.77098	-1.07	5.43	5.43	0.79202	.	0.034586	0.85682	D	0.000000	D	0.86682	0.5991	M	0.84433	2.695	0.80722	D	1	P	0.48640	0.913	P	0.51945	0.685	D	0.88532	0.3103	10	0.66056	D	0.02	.	19.2296	0.93833	0.0:0.0:1.0:0.0	.	176	Q93098	WNT8B_HUMAN	I	176	ENSP00000340677:M176I	ENSP00000340677:M176I	M	+	3	0	WNT8B	102232035	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.553000	0.86117	0.462000	0.41574	ATG		0.637	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		18	19	1	0	1.02788e-11	1	1.28326e-11	18	19				
LYL1	4066	broad.mit.edu	37	19	13211649	13211649	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:13211649A>G	ENST00000264824.4	-	2	696		c.e2+1			NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1						B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			ATCCCCACTGACCTGTTGAGG	0.652			T	TRB@	T-ALL																																	ENST00000264824.4				Dom	yes		19	19p13.2-p13.1	4066	T	lymphoblastic leukemia derived sequence 1			L	TRB@		T-ALL		0				cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7						c.e2+1		lymphoblastic leukemia derived sequence 1							12.0	14.0	13.0					19																	13211649		2090	4134	6224	SO:0001630	splice_region_variant	4066				B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:13211649A>G		CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"""Basic helix-loop-helix proteins"""	6734	protein-coding gene	gene with protein product		151440	"""lymphoblastic leukemia derived sequence 1"""			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.335+1T>C	19.37:g.13211649A>G								NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)		2	696	-								O76102	Splice_Site	SNP	ENST00000264824.4	37		CCDS12292.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.776687	0.70107	.	.	ENSG00000104903	ENST00000264824	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1044	0.59239	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LYL1	13072649	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.203000	0.58453	1.738000	0.51689	0.454000	0.30748	.		0.652	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452827.1	NM_005583	Intron	8	7	0	0	0	1	0	8	7				
SGIP1	84251	broad.mit.edu	37	1	67199467	67199467	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67199467C>A	ENST00000371037.4	+	21	2012	c.1935C>A	c.(1933-1935)ttC>ttA	p.F645L	SGIP1_ENST00000371035.3_Missense_Mutation_p.F435L|SGIP1_ENST00000371036.3_Missense_Mutation_p.F447L|SGIP1_ENST00000435165.2_Missense_Mutation_p.F150L|SGIP1_ENST00000371039.1_Missense_Mutation_p.F448L|SGIP1_ENST00000237247.6_Missense_Mutation_p.F676L|AL354978.1_ENST00000408728.2_RNA	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	645	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCAAGGAATTCTGGGTAAACA	0.348																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1933-1935)ttC>ttA		SH3-domain GRB2-like (endophilin) interacting protein 1							129.0	127.0	128.0					1																	67199467		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67199467C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1935C>A	1.37:g.67199467C>A	ENSP00000360076:p.Phe645Leu					SGIP1_ENST00000371035.3_Missense_Mutation_p.F435L|SGIP1_ENST00000371036.3_Missense_Mutation_p.F447L|SGIP1_ENST00000371039.1_Missense_Mutation_p.F448L|SGIP1_ENST00000237247.6_Missense_Mutation_p.F676L|SGIP1_ENST00000435165.2_Missense_Mutation_p.F150L	p.F645L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			21	2012	+			645					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1935C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499931	0.96355	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	6.0	6.0	0.97389	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	M	0.62723	1.935	0.80722	D	1	D;D;D;D;B	0.63046	0.969;0.992;0.992;0.985;0.115	D;D;D;D;B	0.76071	0.964;0.987;0.987;0.977;0.444	T	0.61297	-0.7091	10	0.41790	T	0.15	-7.2327	20.4946	0.99205	0.0:1.0:0.0:0.0	.	675;150;247;435;645	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	L	676;448;435;675;648;447;645;150	ENSP00000237247:F676L;ENSP00000360078:F448L;ENSP00000360074:F435L;ENSP00000360075:F447L;ENSP00000360076:F645L;ENSP00000395525:F150L	ENSP00000237247:F676L	F	+	3	2	SGIP1	66972055	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.703000	0.54808	2.846000	0.97976	0.650000	0.86243	TTC		0.348	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		21	36	1	0	3.62473e-10	1	4.42315e-10	21	36				
ZNF319	57567	broad.mit.edu	37	16	58031930	58031930	+	Silent	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:58031930C>G	ENST00000299237.2	-	2	862	c.240G>C	c.(238-240)gtG>gtC	p.V80V	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGTGACCACACACGCCACATT	0.642																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(238-240)gtG>gtC		zinc finger protein 319							54.0	54.0	54.0					16																	58031930		2198	4300	6498	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031930C>G	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.240G>C	16.37:g.58031930C>G							p.V80V	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	862	-			80					Q52LH8	Silent	SNP	ENST00000299237.2	37	c.240G>C	CCDS32462.1																																																																																				0.642	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			24	41	0	0	0	1	0	24	41				
POU3F4	5456	broad.mit.edu	37	X	82764037	82764037	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:82764037C>A	ENST00000373200.2	+	1	769	c.705C>A	c.(703-705)ttC>ttA	p.F235L	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	235	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TCTGCAGGTTCGAAGGCTTGC	0.562																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(703-705)ttC>ttA		POU class 3 homeobox 4							72.0	56.0	62.0					X																	82764037		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82764037C>A	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.705C>A	X.37:g.82764037C>A	ENSP00000362296:p.Phe235Leu					RP3-326L13.2_ENST00000607095.1_RNA	p.F235L	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	769	+			235			POU-specific.		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.705C>A	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308652	0.60305	.	.	ENSG00000196767	ENST00000373200	D	0.94138	-3.36	5.05	2.34	0.29019	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.96975	0.9012	H	0.94264	3.515	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.95355	0.8450	10	0.87932	D	0	.	8.2401	0.31654	0.0:0.6727:0.0:0.3273	.	235	P49335	PO3F4_HUMAN	L	235	ENSP00000362296:F235L	ENSP00000362296:F235L	F	+	3	2	POU3F4	82650693	0.992000	0.36948	1.000000	0.80357	0.889000	0.51656	0.400000	0.20932	0.138000	0.18790	-0.312000	0.09012	TTC		0.562	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		25	51	1	0	2.47511e-08	1	2.91589e-08	25	51				
PCDH20	64881	broad.mit.edu	37	13	61987061	61987061	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61987061G>A	ENST00000409186.1	-	5	3276	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L	PCDH20_ENST00000409204.4_Silent_p.L391L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	391	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGGGACTCCAGAACACTTCCT	0.423																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1171-1173)Ctg>Ttg		protocadherin 20							101.0	99.0	99.0					13																	61987061		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987061G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1171C>T	13.37:g.61987061G>A						PCDH20_ENST00000409204.4_Silent_p.L391L	p.L391L			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3276	-		Breast(118;0.195)|Prostate(109;0.229)	364			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.1171C>T	CCDS9442.2																																																																																				0.423	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		41	72	0	0	0	1	0	41	72				
DENND3	22898	broad.mit.edu	37	8	142154302	142154302	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:142154302G>T	ENST00000262585.2	+	5	717	c.439G>T	c.(439-441)Gat>Tat	p.D147Y	DENND3_ENST00000519811.1_Missense_Mutation_p.D227Y|DENND3_ENST00000424248.1_Missense_Mutation_p.D147Y	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	147	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATATAAAAGATTTCGCTGC	0.373																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(679-681)Gat>Tat		DENN/MADD domain containing 3							94.0	95.0	95.0					8																	142154302		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142154302G>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.439G>T	8.37:g.142154302G>T	ENSP00000262585:p.Asp147Tyr					DENND3_ENST00000424248.1_Missense_Mutation_p.D147Y|DENND3_ENST00000262585.2_Missense_Mutation_p.D147Y	p.D227Y			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		5	749	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		147			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.679G>T	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.30|15.30	2.793891|2.793891	0.50102|0.50102	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523058|ENST00000518668	T;T;T;T|.	0.11930|.	2.73;2.73;2.73;2.73|.	4.69|4.69	4.69|4.69	0.59074|0.59074	DENN (3);|.	0.265867|.	0.41605|.	D|.	0.000842|.	T|T	0.55657|0.55657	0.1934|0.1934	N|N	0.25647|0.25647	0.755|0.755	0.50171|0.50171	D|D	0.999852|0.999852	D;D|.	0.67145|.	0.996;0.996|.	D;P|.	0.66196|.	0.942;0.879|.	T|T	0.52132|0.52132	-0.8616|-0.8616	10|5	0.46703|.	T|.	0.11|.	-3.901|-3.901	17.973|17.973	0.89119|0.89119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227;147|.	E9PF32;A2RUS2|.	.;DEND3_HUMAN|.	Y|I	147;147;227;227|203	ENSP00000262585:D147Y;ENSP00000410594:D147Y;ENSP00000428714:D227Y;ENSP00000430786:D227Y|.	ENSP00000262585:D147Y|.	D|R	+|+	1|2	0|0	DENND3|DENND3	142223484|142223484	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.036000|0.036000	0.12997|0.12997	8.024000|8.024000	0.88770|0.88770	2.322000|2.322000	0.78497|0.78497	0.561000|0.561000	0.74099|0.74099	GAT|AGA		0.373	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		5	21	1	0	0.014758	1	0.015099	5	21				
MYO1F	4542	broad.mit.edu	37	19	8612994	8612994	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8612994C>T	ENST00000338257.8	-	12	1462	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	399	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAAAACTGCTCGAAGCCATTT	0.547																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1195-1197)Gag>Aag		myosin IF							147.0	142.0	144.0					19																	8612994		1930	4141	6071	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8612994C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1195G>A	19.37:g.8612994C>T	ENSP00000344871:p.Glu399Lys						p.E399K	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			12	1462	-			399			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1195G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952730	0.92660	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.97888	-4.59	4.92	4.92	0.64577	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97847	1.0272	10	0.87932	D	0	.	17.1152	0.86687	0.0:1.0:0.0:0.0	.	399	O00160	MYO1F_HUMAN	K	444;399	ENSP00000344871:E399K	ENSP00000304899:E444K	E	-	1	0	MYO1F	8518994	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	7.818000	0.86416	2.282000	0.76494	0.563000	0.77884	GAG		0.547	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			94	117	0	0	0	1	0	94	117				
CLEC12A	160364	broad.mit.edu	37	12	10124262	10124262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10124262G>T	ENST00000304361.4	+	1	249	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.E23*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.E33*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.E23*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AAAAATCCCAGAAATTGGCAA	0.323																																					Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(67-69)Gaa>Taa		C-type lectin domain family 12, member A							93.0	101.0	98.0					12																	10124262		2203	4300	6503	SO:0001587	stop_gained	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10124262G>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.67G>T	12.37:g.10124262G>T	ENSP00000302804:p.Glu23*					CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.E33*|CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.E23*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.E23*	p.E23*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			1	249	+			23					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Nonsense_Mutation	SNP	ENST00000304361.4	37	c.67G>T	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801669	0.50315	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	.	.	.	4.12	-1.28	0.09318	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	4.2358	0.10625	0.4339:0.1713:0.3948:0.0	.	.	.	.	X	33;23;23;23;23	.	ENSP00000302804:E23X	E	+	1	0	CLEC12A	10015529	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.025000	0.13577	-0.238000	0.09724	-0.150000	0.13652	GAA		0.323	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		15	26	1	0	2.23348e-06	1	2.50077e-06	15	26				
TBC1D22A	25771	broad.mit.edu	37	22	47287219	47287219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:47287219G>T	ENST00000337137.4	+	6	932	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	TBC1D22A_ENST00000406733.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000380995.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000407381.3_Nonsense_Mutation_p.E197*|TBC1D22A_ENST00000355704.3_Nonsense_Mutation_p.E178*	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	256	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AAAACAAAAAGAATATTTTGC	0.398																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(766-768)Gaa>Taa		TBC1 domain family, member 22A							88.0	91.0	90.0					22																	47287219		2203	4300	6503	SO:0001587	stop_gained	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47287219G>T	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.766G>T	22.37:g.47287219G>T	ENSP00000336724:p.Glu256*					TBC1D22A_ENST00000380995.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000406733.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000355704.3_Nonsense_Mutation_p.E178*|TBC1D22A_ENST00000407381.3_Nonsense_Mutation_p.E197*	p.E256*	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	6	932	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	256			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Nonsense_Mutation	SNP	ENST00000337137.4	37	c.766G>T	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	40	8.516893	0.98845	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.1203	0.72438	0.0:0.0:1.0:0.0	.	.	.	.	X	256;209;197;178;209	.	ENSP00000336724:E256X	E	+	1	0	TBC1D22A	45665883	1.000000	0.71417	0.713000	0.30519	0.987000	0.75469	8.227000	0.89787	2.415000	0.81967	0.557000	0.71058	GAA		0.398	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		14	26	1	0	4.7546e-09	1	5.67505e-09	14	26				
DENND5B	160518	broad.mit.edu	37	12	31579260	31579260	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:31579260G>A	ENST00000389082.5	-	9	2469	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	DENND5B_ENST00000536562.1_Silent_p.F770F|DENND5B_ENST00000306833.6_Silent_p.F770F	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	735					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGCCTTCTACGAATTTACAGT	0.398																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2203-2205)ttC>ttT		DENN/MADD domain containing 5B							108.0	103.0	104.0					12																	31579260		1855	4116	5971	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31579260G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2205C>T	12.37:g.31579260G>A						DENND5B_ENST00000536562.1_Silent_p.F770F|DENND5B_ENST00000306833.6_Silent_p.F770F	p.F735F	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			9	2469	-			735					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.2205C>T	CCDS44857.1																																																																																				0.398	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		7	11	0	0	0	1	0	7	11				
SBF2	81846	broad.mit.edu	37	11	9829665	9829665	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9829665A>G	ENST00000256190.8	-	32	4462	c.4325T>C	c.(4324-4326)gTt>gCt	p.V1442A	SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1442	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTCTTTTTCAACCAACATCTG	0.453																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(4324-4326)gTt>gCt		SET binding factor 2							80.0	70.0	73.0					11																	9829665		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9829665A>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4325T>C	11.37:g.9829665A>G	ENSP00000256190:p.Val1442Ala					SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	p.V1442A	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	32	4462	-			1442			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4325T>C	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233889	0.79688	.	.	ENSG00000133812	ENST00000256190	D	0.92199	-2.99	5.91	5.91	0.95273	Myotubularin phosphatase domain (1);	0.251338	0.42294	D	0.000725	D	0.96334	0.8804	M	0.92412	3.305	0.53688	D	0.999976	D	0.53619	0.961	P	0.56343	0.796	D	0.97114	0.9806	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1442	Q86WG5	MTMRD_HUMAN	A	1442	ENSP00000256190:V1442A	ENSP00000256190:V1442A	V	-	2	0	SBF2	9786241	1.000000	0.71417	0.898000	0.35279	0.960000	0.62799	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	GTT		0.453	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		9	20	0	0	0	1	0	9	20				
TPST1	8460	broad.mit.edu	37	7	65705768	65705768	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:65705768A>G	ENST00000304842.5	+	2	781	c.356A>G	c.(355-357)aAa>aGa	p.K119R	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	119					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CGGTCAAGTAAAGAGAAGATC	0.522																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(355-357)aAa>aGa		tyrosylprotein sulfotransferase 1							110.0	107.0	108.0					7																	65705768		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705768A>G	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.356A>G	7.37:g.65705768A>G	ENSP00000302413:p.Lys119Arg					TPST1_ENST00000480281.1_Intron	p.K119R	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			2	781	+			119					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.356A>G	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.316498	0.23908	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.78	4.64	0.57946	Sulfotransferase domain (1);	0.049814	0.85682	D	0.000000	T	0.43590	0.1254	L	0.28740	0.885	0.45161	D	0.998174	B;B	0.14805	0.004;0.011	B;B	0.20577	0.018;0.03	T	0.21449	-1.0245	9	0.20046	T	0.44	-17.8675	11.0555	0.47915	0.9276:0.0:0.0724:0.0	.	119;119	F5H7U7;O60507	.;TPST1_HUMAN	R	119	.	ENSP00000302413:K119R	K	+	2	0	TPST1	65343203	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	4.477000	0.60223	1.016000	0.39470	0.477000	0.44152	AAA		0.522	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		25	41	0	0	0	1	0	25	41				
CCDC39	339829	broad.mit.edu	37	3	180334346	180334346	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180334346T>C	ENST00000442201.2	-	18	2663	c.2544A>G	c.(2542-2544)gaA>gaG	p.E848E	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	848					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)				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)			TCTCAGTATTTTCTTCTATGA	0.284																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2542-2544)gaA>gaG		coiled-coil domain containing 39							58.0	54.0	55.0					3																	180334346		1826	4067	5893	SO:0001819	synonymous_variant	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.chr3:180334346T>C	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.2544A>G	3.37:g.180334346T>C						CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	p.E848E	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		18	2663	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		848					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.2544A>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	3.970	-0.008576	0.07727	.	.	ENSG00000145075	ENST00000473854	.	.	.	5.37	2.91	0.33838	.	.	.	.	.	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49051	-0.8979	4	.	.	.	.	5.9531	0.19259	0.0:0.1396:0.1406:0.7198	.	.	.	.	R	32	.	.	K	-	2	0	CCDC39	181817040	1.000000	0.71417	0.973000	0.42090	0.451000	0.32288	0.764000	0.26532	1.026000	0.39733	0.455000	0.32223	AAA		0.284	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		4	14	0	0	0	1	0	4	14				
FSCB	84075	broad.mit.edu	37	14	44975941	44975941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:44975941C>A	ENST00000340446.4	-	1	541	c.250G>T	c.(250-252)Gaa>Taa	p.E84*	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	84						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AACTTGACTTCTTTTTTCTCT	0.408																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(250-252)Gaa>Taa		fibrous sheath CABYR binding protein							192.0	182.0	186.0					14																	44975941		2203	4300	6503	SO:0001587	stop_gained	84075					cilium		g.chr14:44975941C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.250G>T	14.37:g.44975941C>A	ENSP00000344579:p.Glu84*						p.E84*	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	541	-			84					Q5H9U7|Q86YI2|Q9H0J3	Nonsense_Mutation	SNP	ENST00000340446.4	37	c.250G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428948	0.83667	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	.	.	.	4.84	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.9765	6.7651	0.23562	0.1788:0.7254:0.0:0.0958	.	.	.	.	X	84	.	ENSP00000344579:E84X	E	-	1	0	FSCB	44045691	0.003000	0.15002	0.426000	0.26672	0.126000	0.20510	-0.318000	0.08050	2.413000	0.81919	0.555000	0.69702	GAA		0.408	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		46	105	1	0	1.41504e-22	1	1.969e-22	46	105				
ZNF510	22869	broad.mit.edu	37	9	99521061	99521061	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:99521061C>T	ENST00000375231.1	-	6	2701	c.2051G>A	c.(2050-2052)tGa>tAa	p.*684*	ZNF510_ENST00000223428.4_Silent_p.*684*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTATTACATCAATAGGGATT	0.358																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(2050-2052)tGa>tAa		zinc finger protein 510							61.0	63.0	62.0					9																	99521061		2203	4300	6503	SO:0001819	synonymous_variant	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521061C>T	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.2051G>A	9.37:g.99521061C>T						ZNF510_ENST00000223428.4_Silent_p.*684*	p.*684*			Q9Y2H8	ZN510_HUMAN			6	2701	-		Acute lymphoblastic leukemia(62;0.0527)	0					Q5SZP5	Silent	SNP	ENST00000375231.1	37	c.2051G>A	CCDS35074.1																																																																																				0.358	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		7	29	0	0	0	1	0	7	29				
PSD4	23550	broad.mit.edu	37	2	113940100	113940100	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113940100G>A	ENST00000245796.6	+	2	262	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PSD4_ENST00000441564.3_Missense_Mutation_p.D23N|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	23					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTACTTGGGAGACAGCCTGGA	0.607																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(67-69)Gac>Aac		pleckstrin and Sec7 domain containing 4							73.0	68.0	70.0					2																	113940100		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940100G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.67G>A	2.37:g.113940100G>A	ENSP00000245796:p.Asp23Asn					PSD4_ENST00000441564.2_Missense_Mutation_p.D23N|PSD4_ENST00000465917.1_3'UTR	p.D23N	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	262	+			23					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.67G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365760	0.61513	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.26957	1.7;1.72	5.0	5.0	0.66597	.	0.603757	0.15793	N	0.244327	T	0.26412	0.0645	L	0.27053	0.805	0.80722	D	1	P;P	0.40731	0.728;0.608	P;B	0.46076	0.503;0.306	T	0.02728	-1.1118	10	0.48119	T	0.1	.	13.8064	0.63236	0.0:0.0:1.0:0.0	.	23;23	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	N	23	ENSP00000245796:D23N;ENSP00000413997:D23N	ENSP00000245796:D23N	D	+	1	0	PSD4	113656571	0.991000	0.36638	0.936000	0.37596	0.182000	0.23217	4.201000	0.58439	2.326000	0.78906	0.462000	0.41574	GAC		0.607	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		22	52	0	0	0	1	0	22	52				
CLTCL1	8218	broad.mit.edu	37	22	19203720	19203720	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19203720G>A	ENST00000263200.10	-	19	3038	c.2966C>T	c.(2965-2967)tCg>tTg	p.S989L	CLTCL1_ENST00000353891.5_Missense_Mutation_p.S989L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S989L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	989	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GACAGTGACCGAAATCTCTTC	0.423			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2965-2967)tCg>tTg		clathrin, heavy chain-like 1							99.0	95.0	96.0					22																	19203720		1889	4115	6004	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19203720G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2966C>T	22.37:g.19203720G>A	ENSP00000445677:p.Ser989Leu					CLTCL1_ENST00000353891.5_Missense_Mutation_p.S989L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S989L	p.S989L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			19	3038	-	Colorectal(54;0.0993)		989			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2966C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227557	0.58668	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.22539	1.95;1.95;1.95	3.4	3.4	0.38934	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.52693	0.1750	M	0.90814	3.15	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.87578	0.882;0.998	T	0.64719	-0.6341	10	0.51188	T	0.08	-7.4877	15.3273	0.74176	0.0:0.0:1.0:0.0	.	989;989	P53675-2;P53675	.;CLH2_HUMAN	L	989	ENSP00000439662:S989L;ENSP00000445677:S989L;ENSP00000441158:S989L	ENSP00000445677:S989L	S	-	2	0	CLTCL1	17583720	1.000000	0.71417	0.057000	0.19452	0.256000	0.26092	5.889000	0.69766	1.884000	0.54569	0.563000	0.77884	TCG		0.423	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		25	28	0	0	0	1	0	25	28				
EYS	346007	broad.mit.edu	37	6	66200576	66200576	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:66200576C>T	ENST00000370621.3	-	5	1299	c.773G>A	c.(772-774)gGc>gAc	p.G258D	EYS_ENST00000393380.2_Missense_Mutation_p.G258D|EYS_ENST00000370616.2_Missense_Mutation_p.G258D|EYS_ENST00000503581.1_Missense_Mutation_p.G258D|EYS_ENST00000342421.5_Missense_Mutation_p.G258D|EYS_ENST00000370618.3_Missense_Mutation_p.G258D			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	258	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGACACTGGCCAATTATTTC	0.303																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(772-774)gGc>gAc		eyes shut homolog (Drosophila)							68.0	64.0	66.0					6																	66200576		2203	4296	6499	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66200576C>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.773G>A	6.37:g.66200576C>T	ENSP00000359655:p.Gly258Asp					EYS_ENST00000370616.2_Missense_Mutation_p.G258D|EYS_ENST00000370618.3_Missense_Mutation_p.G258D|EYS_ENST00000370621.3_Missense_Mutation_p.G258D|EYS_ENST00000342421.5_Missense_Mutation_p.G258D|EYS_ENST00000393380.2_Missense_Mutation_p.G258D	p.G258D	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			5	1310	-			258			EGF-like 3.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.773G>A		.	.	.	.	.	.	.	.	.	.	C	0.030	-1.338182	0.01287	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	4.4	2.02	0.26589	.	.	.	.	.	T	0.45736	0.1357	N	0.08118	0	0.22457	N	0.999082	B;B;B	0.23540	0.015;0.087;0.053	B;B;B	0.25759	0.027;0.063;0.028	T	0.50206	-0.8855	9	0.02654	T	1	.	7.0858	0.25257	0.0:0.7296:0.0:0.2704	.	258;258;258	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	D	258	ENSP00000424243:G258D;ENSP00000359655:G258D;ENSP00000359650:G258D;ENSP00000377042:G258D;ENSP00000341818:G258D;ENSP00000359652:G258D	ENSP00000341818:G258D	G	-	2	0	EYS	66257297	0.027000	0.19231	0.207000	0.23584	0.587000	0.36485	-0.299000	0.08254	0.160000	0.19432	0.557000	0.71058	GGC		0.303	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		5	22	0	0	0	1	0	5	22				
BOD1L1	259282	broad.mit.edu	37	4	13605304	13605304	+	Missense_Mutation	SNP	G	G	A	rs73231582	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13605304G>A	ENST00000040738.5	-	10	3355	c.3220C>T	c.(3220-3222)Cgg>Tgg	p.R1074W		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1074						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTCCTCTCCGATTTTCGCAC	0.418													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19368	0.0		0.002	False		,,,				2504	0.0					ENST00000040738.5																			0											c.(3220-3222)Cgg>Tgg		biorientation of chromosomes in cell division 1-like 1		G	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	107.0	104.0	105.0		3220	5.5	1.0	4	dbSNP_130	105	17,8583	11.9+/-42.8	0,17,4283	yes	missense	BOD1L	NM_148894.2	101	0,22,6481	AA,AG,GG		0.1977,0.1135,0.1692	probably-damaging	1074/3052	13605304	22,12984	2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13605304G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3220C>T	4.37:g.13605304G>A	ENSP00000040738:p.Arg1074Trp						p.R1074W	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	3355	-			1074					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3220C>T	CCDS3411.2	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	15.02	2.710004	0.48517	0.001135	0.001977	ENSG00000038219	ENST00000040738	T	0.18016	2.24	5.47	5.47	0.80525	.	0.000000	0.39985	N	0.001220	T	0.38957	0.1060	M	0.66939	2.045	0.36270	D	0.855114	D	0.89917	1.0	D	0.87578	0.998	T	0.44757	-0.9307	10	0.62326	D	0.03	-3.088	12.1887	0.54254	0.0:0.0:0.7844:0.2155	.	1074	Q8NFC6	BOD1L_HUMAN	W	1074	ENSP00000040738:R1074W	ENSP00000040738:R1074W	R	-	1	2	BOD1L	13214402	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	3.576000	0.53878	2.568000	0.86640	0.603000	0.83216	CGG		0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		16	39	0	0	0	1	0	16	39				
NUP153	9972	broad.mit.edu	37	6	17629400	17629400	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:17629400C>T	ENST00000262077.2	-	18	3029	c.3030G>A	c.(3028-3030)aaG>aaA	p.K1010K	NUP153_ENST00000537253.1_Silent_p.K1041K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1010					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTCCTCTTTCTTTTCTTCCT	0.403																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(3028-3030)aaG>aaA		nucleoporin 153kDa							61.0	63.0	62.0					6																	17629400		2203	4299	6502	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17629400C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3030G>A	6.37:g.17629400C>T						NUP153_ENST00000537253.1_Silent_p.K1041K	p.K1010K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		18	3029	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1010					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.3030G>A	CCDS4541.1																																																																																				0.403	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			10	44	0	0	0	1	0	10	44				
AKAP4	8852	broad.mit.edu	37	X	49958138	49958138	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49958138C>A	ENST00000376056.2	-	5	1349	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.R400I|AKAP4_ENST00000358526.2_Missense_Mutation_p.R409I|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAACAGATTTCTCTTGACAGC	0.448																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1198-1200)aGa>aTa		A kinase (PRKA) anchor protein 4							84.0	76.0	79.0					X																	49958138		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958138C>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1199G>T	X.37:g.49958138C>A	ENSP00000365224:p.Arg400Ile					AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.R400I|AKAP4_ENST00000358526.2_Missense_Mutation_p.R409I|AKAP4_ENST00000481402.1_5'UTR	p.R400I			Q5JQC9	AKAP4_HUMAN			5	1349	-	Ovarian(276;0.236)		409						Missense_Mutation	SNP	ENST00000376056.2	37	c.1199G>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338501	0.60963	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.14893	2.47;2.47;2.47	4.6	4.6	0.57074	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.53938	D	0.000052	T	0.41213	0.1149	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.30387	-0.9980	9	.	.	.	-21.7807	12.0313	0.53399	0.0:1.0:0.0:0.0	.	409	Q5JQC9	AKAP4_HUMAN	I	400;409;400	ENSP00000365224:R400I;ENSP00000351327:R409I;ENSP00000365232:R400I	.	R	-	2	0	AKAP4	49844878	0.856000	0.29760	0.999000	0.59377	0.900000	0.52787	1.356000	0.34079	1.881000	0.54492	0.468000	0.43344	AGA		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		18	49	1	0	6.49762e-13	1	8.24929e-13	18	49				
GBP2	2634	broad.mit.edu	37	1	89585912	89585912	+	Silent	SNP	G	G	A	rs148121752		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89585912G>A	ENST00000370466.3	-	4	646	c.378C>T	c.(376-378)ttC>ttT	p.F126F	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	126	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TATTGTACACGAAGGTGCTGC	0.458																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(376-378)ttC>ttT		guanylate binding protein 2, interferon-inducible		G		1,4405	2.1+/-5.4	0,1,2202	225.0	201.0	209.0		378	-1.6	0.5	1	dbSNP_134	209	0,8600		0,0,4300	no	coding-synonymous	GBP2	NM_004120.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		126/592	89585912	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89585912G>A	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.378C>T	1.37:g.89585912G>A							p.F126F	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	4	646	-		Lung NSC(277;0.0908)	126					Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	ENST00000370466.3	37	c.378C>T	CCDS719.1																																																																																				0.458	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		29	69	0	0	0	1	0	29	69				
CCDC15	80071	broad.mit.edu	37	11	124824652	124824652	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124824652G>T	ENST00000344762.5	+	2	283	c.24G>T	c.(22-24)aaG>aaT	p.K8N	CCDC15_ENST00000529051.1_Missense_Mutation_p.K8N	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	8						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TGGCCCGAAAGAAACCTCGAA	0.463																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(22-24)aaG>aaT		coiled-coil domain containing 15							124.0	125.0	125.0					11																	124824652		1915	4142	6057	SO:0001583	missense	80071					centrosome		g.chr11:124824652G>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.24G>T	11.37:g.124824652G>T	ENSP00000341684:p.Lys8Asn					CCDC15_ENST00000344762.5_Missense_Mutation_p.K8N	p.K8N			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	2	283	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	8					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.24G>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.545078	0.65198	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.44083	0.94;0.93	5.48	4.37	0.52481	.	0.276731	0.29314	N	0.012511	T	0.50034	0.1592	M	0.63428	1.95	0.18873	N	0.999981	P	0.51351	0.944	P	0.52957	0.714	T	0.46205	-0.9208	10	0.66056	D	0.02	-18.2751	10.0466	0.42190	0.1066:0.0:0.8934:0.0	.	8	Q0P6D6	CCD15_HUMAN	N	8	ENSP00000435403:K8N;ENSP00000341684:K8N	ENSP00000341684:K8N	K	+	3	2	CCDC15	124329862	0.998000	0.40836	0.996000	0.52242	0.673000	0.39480	3.051000	0.49885	2.558000	0.86282	0.460000	0.39030	AAG		0.463	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		56	94	1	0	5.2118e-15	1	6.84239e-15	56	94				
ARHGAP5	394	broad.mit.edu	37	14	32561892	32561892	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32561892G>A	ENST00000345122.3	+	2	2332	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E673K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E673K|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E673K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	673					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTTATTGGGGAATTTATTGG	0.358																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2017-2019)Gaa>Aaa		Rho GTPase activating protein 5							76.0	79.0	78.0					14																	32561892		2203	4297	6500	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561892G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2017G>A	14.37:g.32561892G>A	ENSP00000371897:p.Glu673Lys					ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E673K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E673K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E673K|ARHGAP5_ENST00000433497.1_Intron	p.E673K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2332	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		673					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2017G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.563230	0.65538	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	5.54	5.54	0.83059	.	0.087450	0.85682	D	0.000000	T	0.19087	0.0458	L	0.39245	1.2	0.58432	D	0.999996	P;B	0.36465	0.554;0.419	P;B	0.45753	0.492;0.297	T	0.00688	-1.1609	10	0.62326	D	0.03	.	19.8487	0.96730	0.0:0.0:1.0:0.0	.	673;673	Q13017-2;Q13017	.;RHG05_HUMAN	K	673	ENSP00000452222:E673K;ENSP00000441692:E673K;ENSP00000371897:E673K;ENSP00000393307:E673K	ENSP00000371897:E673K	E	+	1	0	ARHGAP5	31631643	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.871000	0.87180	2.748000	0.94277	0.650000	0.86243	GAA		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		21	50	0	0	0	1	0	21	50				
TLR5	7100	broad.mit.edu	37	1	223285114	223285114	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223285114C>A	ENST00000540964.1	-	4	1721	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	TLR5_ENST00000342210.6_Missense_Mutation_p.K420N			O60602	TLR5_HUMAN	toll-like receptor 5	420			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TAAGGTTGATCTTTGGCAAAG	0.408																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1258-1260)aaG>aaT		toll-like receptor 5							95.0	95.0	95.0					1																	223285114		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285114C>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1260G>T	1.37:g.223285114C>A	ENSP00000440643:p.Lys420Asn					TLR5_ENST00000342210.6_Missense_Mutation_p.K420N	p.K420N			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1721	-			420		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1260G>T	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.244321	0.00271	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.23754	1.89;1.89;1.89	5.59	0.422	0.16457	.	1.040710	0.07489	N	0.905354	T	0.04998	0.0134	N	0.00246	-1.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36648	-0.9739	10	0.02654	T	1	.	5.8405	0.18630	0.1294:0.1343:0.6326:0.1038	.	420	O60602	TLR5_HUMAN	N	420	ENSP00000440643:K420N;ENSP00000355846:K420N;ENSP00000340089:K420N	ENSP00000340089:K420N	K	-	3	2	TLR5	221351737	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.223000	0.17719	-0.170000	0.10816	-0.181000	0.13052	AAG		0.408	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		29	62	1	0	1.2476e-16	1	1.66396e-16	29	62				
JAZF1	221895	broad.mit.edu	37	7	27935032	27935032	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27935032G>T	ENST00000283928.5	-	3	357	c.192C>A	c.(190-192)ttC>ttA	p.F64L		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	64					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CATCTGTCATGAATCTGAAAC	0.483			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(190-192)ttC>ttA		JAZF zinc finger 1							52.0	51.0	51.0					7																	27935032		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27935032G>T	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.192C>A	7.37:g.27935032G>T	ENSP00000283928:p.Phe64Leu						p.F64L	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			3	357	-			64					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.192C>A	CCDS5416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.34|18.34	3.603217|3.603217	0.66445|0.66445	.|.	.|.	ENSG00000153814|ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620;ENST00000420835|ENST00000427814	T|.	0.80033|.	-1.33|.	5.46|5.46	4.46|4.46	0.54185|0.54185	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60702|.	0.2289|.	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P|.	0.52577|.	0.954|.	D|.	0.66351|.	0.943|.	T|.	0.59773|.	-0.7391|.	10|.	0.49607|.	T|.	0.09|.	-18.561|-18.561	6.5215|6.5215	0.22277|0.22277	0.2114:0.0:0.7886:0.0|0.2114:0.0:0.7886:0.0	.|.	64|.	Q86VZ6|.	JAZF1_HUMAN|.	L|X	64;31;40;79|51	ENSP00000283928:F64L|.	ENSP00000283928:F64L|.	F|S	-|-	3|2	2|0	JAZF1|JAZF1	27901557|27901557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.640000|3.640000	0.54350|0.54350	2.563000|2.563000	0.86464|0.86464	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.483	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		17	43	1	0	4.14922e-12	1	5.21015e-12	17	43				
ZNF804B	219578	broad.mit.edu	37	7	88964999	88964999	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88964999G>T	ENST00000333190.4	+	4	3312	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	901							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCCTTCTAAAGAACTGTTCCA	0.463										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2701-2703)aaG>aaT		zinc finger protein 804B							75.0	79.0	77.0					7																	88964999		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964999G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2703G>T	7.37:g.88964999G>T	ENSP00000329638:p.Lys901Asn	HNSCC(36;0.09)					p.K901N	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3312	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		901					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2703G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	8.704	0.910503	0.17833	.	.	ENSG00000182348	ENST00000333190	T	0.05447	3.44	5.34	-3.53	0.04667	.	0.231983	0.38778	N	0.001564	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.15870	0.014	T	0.38222	-0.9671	10	0.66056	D	0.02	-6.6079	9.5293	0.39185	0.7315:0.1224:0.1461:0.0	.	901	A4D1E1	Z804B_HUMAN	N	901	ENSP00000329638:K901N	ENSP00000329638:K901N	K	+	3	2	ZNF804B	88802935	0.000000	0.05858	0.002000	0.10522	0.197000	0.23852	0.064000	0.14437	-0.416000	0.07473	-0.140000	0.14226	AAG		0.463	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		36	104	1	0	3.62531e-18	1	4.89791e-18	36	104				
CSTF2	1478	broad.mit.edu	37	X	100088308	100088308	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100088308G>A	ENST00000372972.2	+	11	1363	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	CSTF2_ENST00000415585.2_Silent_p.A469A	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	449	12 X 5 AA tandem repeats of M-E-A-R-[AG].				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGGCCCGAGCGATGGAGGCCC	0.622																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(1405-1407)gcG>gcA		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							48.0	40.0	43.0					X																	100088308		2203	4300	6503	SO:0001819	synonymous_variant	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100088308G>A	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1347G>A	X.37:g.100088308G>A						CSTF2_ENST00000372972.2_Silent_p.A449A|CSTF2_ENST00000486615.1_Intron	p.A469A			P33240	CSTF2_HUMAN			12	1429	+			449			12 X 5 AA tandem repeats of M-E-A-R-[AG].		Q5H951|Q6LA74|Q8N502	Silent	SNP	ENST00000372972.2	37	c.1407G>A	CCDS14473.1																																																																																				0.622	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		9	15	0	0	0	1	0	9	15				
BTN3A1	11119	broad.mit.edu	37	6	26413752	26413752	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26413752G>T	ENST00000289361.6	+	10	1742	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	BTN3A1_ENST00000414912.2_Missense_Mutation_p.K406N	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	458	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGCCCCCTAAGAAAGTGGGGG	0.478																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1372-1374)aaG>aaT		butyrophilin, subfamily 3, member A1							128.0	126.0	127.0					6																	26413752		2203	4300	6503	SO:0001583	missense	0				lipid metabolic process	integral to membrane		g.chr6:26413752G>T	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1374G>T	6.37:g.26413752G>T	ENSP00000289361:p.Lys458Asn					BTN3A1_ENST00000414912.2_Missense_Mutation_p.K406N	p.K458N	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			10	1742	+			458			B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.1374G>T	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	7.751	0.703295	0.15172	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.69435	-0.4;-0.4	2.31	-4.61	0.03380	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.22936	0.0554	N	0.21508	0.67	0.09310	N	1	B;B	0.27316	0.174;0.175	B;B	0.31686	0.134;0.09	T	0.23154	-1.0196	9	0.45353	T	0.12	.	2.2126	0.03952	0.1862:0.2189:0.4468:0.1482	.	406;458	E9PGB4;O00481	.;BT3A1_HUMAN	N	458;406	ENSP00000289361:K458N;ENSP00000406667:K406N	ENSP00000289361:K458N	K	+	3	2	BTN3A1	26521731	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.059000	0.01393	-1.609000	0.01585	-0.466000	0.05196	AAG		0.478	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			71	39	1	0	3.28615e-30	1	4.69343e-30	71	39				
APOL5	80831	broad.mit.edu	37	22	36122895	36122895	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:36122895G>T	ENST00000249044.2	+	3	780	c.780G>T	c.(778-780)aaG>aaT	p.K260N		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	260					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTATGGTCAAGAATTTTGTGG	0.498																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(778-780)aaG>aaT		apolipoprotein L, 5							149.0	157.0	154.0					22																	36122895		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122895G>T	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.780G>T	22.37:g.36122895G>T	ENSP00000249044:p.Lys260Asn						p.K260N	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	780	+			260					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.780G>T	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	7.424	0.637284	0.14386	.	.	ENSG00000128313	ENST00000249044	T	0.03580	3.88	3.71	-0.264	0.12950	.	0.320112	0.22703	N	0.056671	T	0.02156	0.0067	N	0.21240	0.645	0.09310	N	1	B	0.28291	0.206	B	0.24541	0.054	T	0.42982	-0.9419	10	0.40728	T	0.16	.	3.3135	0.07025	0.3164:0.0:0.4678:0.2158	.	260	Q9BWW9	APOL5_HUMAN	N	260	ENSP00000249044:K260N	ENSP00000249044:K260N	K	+	3	2	APOL5	34452841	0.000000	0.05858	0.005000	0.12908	0.028000	0.11728	-0.507000	0.06352	0.081000	0.16988	0.609000	0.83330	AAG		0.498	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		10	166	1	0	0.000442599	1	0.00046913	10	166				
RENBP	5973	broad.mit.edu	37	X	153207461	153207461	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153207461C>A	ENST00000393700.3	-	7	791	c.711G>T	c.(709-711)gaG>gaT	p.E237D	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000369997.3_Missense_Mutation_p.E223D|RENBP_ENST00000412763.1_Intron	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	237					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CTGACACATTCTCCAGCACAG	0.627																																						ENST00000393700.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(709-711)gaG>gaT		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						113.0	96.0	101.0					X																	153207461		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153207461C>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.711G>T	X.37:g.153207461C>A	ENSP00000377303:p.Glu237Asp					RENBP_ENST00000369997.3_Missense_Mutation_p.E223D|RENBP_ENST00000412763.1_Intron	p.E237D	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN			7	791	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		237					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.711G>T	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	c	23.1	4.371891	0.82573	.	.	ENSG00000102032	ENST00000393700;ENST00000369997	T;T	0.56103	0.48;0.48	4.92	4.92	0.64577	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	M	0.92738	3.34	0.80722	D	1	P	0.52061	0.95	P	0.56700	0.804	T	0.78653	-0.2120	10	0.87932	D	0	-31.472	9.8154	0.40849	0.0:0.9006:0.0:0.0994	.	237	P51606	RENBP_HUMAN	D	237;223	ENSP00000377303:E237D;ENSP00000359014:E223D	ENSP00000359014:E223D	E	-	3	2	RENBP	152860655	1.000000	0.71417	0.980000	0.43619	0.932000	0.56968	0.881000	0.28173	2.018000	0.59344	0.429000	0.28392	GAG		0.627	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		53	94	1	0	4.88482e-21	1	6.72725e-21	53	94				
TSC1	7248	broad.mit.edu	37	9	135796771	135796771	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135796771T>C	ENST00000298552.3	-	8	937	c.716A>G	c.(715-717)gAc>gGc	p.D239G	TSC1_ENST00000440111.2_Missense_Mutation_p.D239G|TSC1_ENST00000403810.1_Missense_Mutation_p.D239G|TSC1_ENST00000475903.1_5'Flank|TSC1_ENST00000545250.1_Missense_Mutation_p.D188G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	239					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CAGTTCATGGTCCTTGGATCC	0.408			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(715-717)gAc>gGc		tuberous sclerosis 1							101.0	96.0	98.0					9																	135796771		2203	4300	6503	SO:0001583	missense	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135796771T>C	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.716A>G	9.37:g.135796771T>C	ENSP00000298552:p.Asp239Gly					TSC1_ENST00000545250.1_Missense_Mutation_p.D188G|TSC1_ENST00000440111.2_Missense_Mutation_p.D239G|TSC1_ENST00000403810.1_Missense_Mutation_p.D239G	p.D239G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	8	937	-			239					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.716A>G	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	T	32	5.137624	0.94517	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000537172;ENST00000424271;ENST00000403810	D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.94732	0.8300	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.97110	1.0;0.988;0.984;0.989;1.0;0.995	D	0.95284	0.8389	10	0.87932	D	0	-21.9107	15.6258	0.76855	0.0:0.0:0.0:1.0	.	118;188;239;239;239;239	B7Z604;B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;.;.;TSC1_HUMAN	G	239;239;188;118;118;239	ENSP00000298552:D239G;ENSP00000394524:D239G;ENSP00000444017:D188G;ENSP00000438099:D118G;ENSP00000386093:D239G	ENSP00000298552:D239G	D	-	2	0	TSC1	134786592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.284000	0.76573	0.528000	0.53228	GAC		0.408	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			16	22	0	0	0	1	0	16	22				
TRIP12	9320	broad.mit.edu	37	2	230670526	230670526	+	Intron	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230670526G>T	ENST00000283943.5	-	17	2531				TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.S512Y|TRIP12_ENST00000389044.4_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTGCTGCATAGAATTAAAATC	0.428																																						ENST00000389045.3																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1534-1536)tCt>tAt		thyroid hormone receptor interactor 12							128.0	117.0	121.0					2																	230670526		2203	4300	6503	SO:0001627	intron_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230670526G>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2353-8C>A	2.37:g.230670526G>T						TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000389044.4_Intron|TRIP12_ENST00000543084.1_Intron	p.S512Y			Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	15	1607	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	784					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.1535C>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487408	0.84854	.	.	ENSG00000153827	ENST00000389045	T	0.47869	0.83	5.77	5.77	0.91146	.	.	.	.	.	T	0.69620	0.3131	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.68693	-0.5341	7	.	.	.	.	18.2216	0.89903	0.0:0.0:1.0:0.0	.	512	Q14CF1	.	Y	512	ENSP00000373697:S512Y	.	S	-	2	0	TRIP12	230378770	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.827000	0.99397	2.729000	0.93468	0.644000	0.83932	TCT		0.428	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		4	13	1	0	0.00909568	1	0.00935351	4	13				
KIF1A	547	broad.mit.edu	37	2	241661294	241661294	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241661294C>T	ENST00000320389.7	-	42	4528	c.4370G>A	c.(4369-4371)cGc>cAc	p.R1457H	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1558H	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1457					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGTGAGCAGGCGCAAGCACTG	0.647																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(4672-4674)cGc>cAc		kinesin family member 1A							70.0	75.0	74.0					2																	241661294		2146	4240	6386	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241661294C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4370G>A	2.37:g.241661294C>T	ENSP00000322791:p.Arg1457His					KIF1A_ENST00000320389.7_Missense_Mutation_p.R1457H	p.R1558H	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	44	4919	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1457					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.4673G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907737	0.92107	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.74947	-0.81;-0.89	4.33	4.33	0.51752	.	0.000000	0.85682	U	0.000000	T	0.82051	0.4953	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;P	0.67900	0.954;0.878	D	0.84423	0.0572	10	0.66056	D	0.02	.	16.4483	0.83959	0.0:1.0:0.0:0.0	.	1558;1457	F5H045;Q12756	.;KIF1A_HUMAN	H	1457;1558;1566	ENSP00000322791:R1457H;ENSP00000438388:R1558H	ENSP00000322791:R1457H	R	-	2	0	KIF1A	241309967	1.000000	0.71417	0.940000	0.37924	0.935000	0.57460	5.674000	0.68117	1.965000	0.57142	0.650000	0.86243	CGC		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		11	18	0	0	0	1	0	11	18				
MAGEA3	4102	broad.mit.edu	37	X	151935896	151935896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151935896C>A	ENST00000393902.3	-	3	838	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E91*			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	91										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCTCTTCTTGGTTGCTG	0.567																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(271-273)Gaa>Taa		melanoma antigen family A, 3							82.0	76.0	78.0					X																	151935896		2202	4289	6491	SO:0001587	stop_gained	4102							g.chrX:151935896C>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.271G>T	X.37:g.151935896C>A	ENSP00000377480:p.Glu91*					MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E91*	p.E91*			P43357	MAGA3_HUMAN			3	838	-	Acute lymphoblastic leukemia(192;6.56e-05)		91					Q6FHI6	Nonsense_Mutation	SNP	ENST00000393902.3	37	c.271G>T	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	t	22.4	4.279997	0.80692	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	.	.	.	1.1	-2.19	0.07015	.	2.068740	0.01701	N	0.027179	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	5.4052	0.16318	0.0:0.3549:0.0:0.6451	.	.	.	.	X	91	.	ENSP00000359301:E91X	E	-	1	0	MAGEA3	151686552	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.849000	0.04322	-1.222000	0.02587	-1.688000	0.00730	GAA		0.567	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		49	88	1	0	7.34454e-26	1	1.03635e-25	49	88				
RHBDL2	54933	broad.mit.edu	37	1	39358897	39358897	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39358897C>A	ENST00000289248.2	-	6	1618		c.e6-1		RHBDL2_ENST00000372985.3_Splice_Site|RHBDL2_ENST00000372990.1_Splice_Site|RHBDL2_ENST00000538156.1_Splice_Site|RP5-864K19.4_ENST00000433671.2_RNA			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTTGAAAATTCTTAAAAAGAG	0.323																																						ENST00000289248.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8						c.e6-1		rhomboid, veinlet-like 2 (Drosophila)							24.0	25.0	25.0					1																	39358897		2191	4289	6480	SO:0001630	splice_region_variant	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39358897C>A	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.610-1G>T	1.37:g.39358897C>A						RHBDL2_ENST00000538156.1_Splice_Site|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Splice_Site|RHBDL2_ENST00000372990.1_Splice_Site				Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		6	1618	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Splice_Site	SNP	ENST00000289248.2	37		CCDS30680.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025278	0.75390	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3669	0.90394	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHBDL2	39131484	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.177000	0.71961	2.698000	0.92095	0.655000	0.94253	.		0.323	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1	NM_017821	Intron	7	21	1	0	0.00198382	1	0.00207034	7	21				
FAM107B	83641	broad.mit.edu	37	10	14816376	14816376	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14816376C>T	ENST00000181796.2	-	1	520	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGCCGCAGTGCGGTGACTTGA	0.592																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(286-288)cGc>cAc		family with sequence similarity 107, member B							152.0	149.0	150.0					10																	14816376		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14816376C>T	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.287G>A	10.37:g.14816376C>T	ENSP00000181796:p.Arg96His						p.R96H	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			1	520	-			0					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000181796.2	37	c.287G>A	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	C	8.115	0.779626	0.16120	.	.	ENSG00000065809	ENST00000181796	T	0.46451	0.87	5.23	2.78	0.32641	.	0.156840	0.29722	N	0.011378	T	0.14830	0.0358	N	0.03608	-0.345	0.29068	N	0.883455	B	0.02656	0.0	B	0.01281	0.0	T	0.32295	-0.9912	10	0.02654	T	1	-17.2938	7.4638	0.27310	0.0:0.2504:0.0:0.7496	.	96	Q9H098-2	.	H	96	ENSP00000181796:R96H	ENSP00000181796:R96H	R	-	2	0	FAM107B	14856382	0.335000	0.24748	0.013000	0.15412	0.002000	0.02628	0.572000	0.23684	0.453000	0.26858	-0.290000	0.09829	CGC		0.592	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		68	144	0	0	0	1	0	68	144				
SEMA3G	56920	broad.mit.edu	37	3	52469702	52469702	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52469702C>T	ENST00000231721.2	-	16	2265	c.2266G>A	c.(2266-2268)Gca>Aca	p.A756T		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	756					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCCAGCCCTGCCCAGCTCTTG	0.672																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(2266-2268)Gca>Aca		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							57.0	64.0	61.0					3																	52469702		2203	4299	6502	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52469702C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.2266G>A	3.37:g.52469702C>T	ENSP00000231721:p.Ala756Thr						p.A756T	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	16	2265	-			756					Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.2266G>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115997	0.37339	.	.	ENSG00000010319	ENST00000231721	T	0.78816	-1.21	4.6	2.71	0.32032	.	0.709741	0.13400	N	0.390695	T	0.67163	0.2864	L	0.51422	1.61	0.29728	N	0.838077	B	0.20164	0.042	B	0.17722	0.019	T	0.61681	-0.7013	10	0.52906	T	0.07	.	3.1517	0.06490	0.1535:0.475:0.2734:0.0981	.	756	Q9NS98	SEM3G_HUMAN	T	756	ENSP00000231721:A756T	ENSP00000231721:A756T	A	-	1	0	SEMA3G	52444742	0.018000	0.18449	0.840000	0.33206	0.635000	0.38103	0.053000	0.14184	2.403000	0.81681	0.650000	0.86243	GCA		0.672	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		9	118	0	0	0	1	0	9	118				
CACNA2D3	55799	broad.mit.edu	37	3	54676264	54676264	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:54676264G>A	ENST00000474759.1	+	11	1211	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R294Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R388Q|ESRG_ENST00000583516.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R388Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	388	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGGCCAGATCGAAAGGTAAGT	0.463																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(1162-1164)cGa>cAa		calcium channel, voltage-dependent, alpha 2/delta subunit 3							76.0	72.0	74.0					3																	54676264		2009	4163	6172	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54676264G>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1163G>A	3.37:g.54676264G>A	ENSP00000419101:p.Arg388Gln					CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R294Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R388Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R388Q	p.R388Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	11	1211	+			388			VWFA.		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1163G>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	g	34	5.295235	0.95574	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.92	5.92	0.95590	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	M	0.69523	2.12	0.41896	D	0.990397	D	0.76494	0.999	D	0.73708	0.981	T	0.01583	-1.1319	10	0.22706	T	0.39	0.0012	18.5122	0.90921	0.0:0.0:1.0:0.0	.	388	Q8IZS8	CA2D3_HUMAN	Q	388;388;388;294;294;293	ENSP00000389506:R388Q;ENSP00000419101:R388Q;ENSP00000288197:R388Q;ENSP00000417279:R294Q	ENSP00000288197:R388Q	R	+	2	0	CACNA2D3	54651304	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.029000	0.88807	2.794000	0.96219	0.651000	0.88453	CGA		0.463	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			4	8	0	0	0	1	0	4	8				
VTN	7448	broad.mit.edu	37	17	26696426	26696426	+	Missense_Mutation	SNP	C	C	T	rs555354635	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26696426C>T	ENST00000226218.4	-	4	1171	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	SARM1_ENST00000457710.3_5'Flank|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	185					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E185K(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	ACTGCCTTTTCGTCCAGTTCA	0.607													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21601	0.0		0.0	False		,,,				2504	0.0					ENST00000226218.4																			1	Substitution - Missense(1)	p.E185K(1)	upper_aerodigestive_tract(1)	kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(553-555)Gaa>Aaa		vitronectin	Urokinase(DB00013)						89.0	78.0	81.0					17																	26696426		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26696426C>T	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.553G>A	17.37:g.26696426C>T	ENSP00000226218:p.Glu185Lys					SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron	p.E185K	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	1171	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		185			Hemopexin-like 1.		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.553G>A	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051438	0.75960	.	.	ENSG00000255604	ENST00000226218	T	0.02812	4.15	5.79	5.79	0.91817	Hemopexin/matrixin (2);	0.252016	0.45126	D	0.000396	T	0.09379	0.0231	M	0.69823	2.125	0.46798	D	0.999207	D	0.56746	0.977	P	0.53102	0.718	T	0.02371	-1.1169	10	0.38643	T	0.18	-23.6811	13.6704	0.62420	0.0:0.9206:0.0:0.0794	.	185	P04004	VTNC_HUMAN	K	185	ENSP00000226218:E185K	ENSP00000226218:E185K	E	-	1	0	AC002094.1	23720553	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	1.585000	0.36600	2.735000	0.93741	0.561000	0.74099	GAA		0.607	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		32	69	0	0	0	1	0	32	69				
CHEK2P2	646096	broad.mit.edu	37	15	20496806	20496806	+	RNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:20496806A>G	ENST00000555186.1	+	0	859					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TTTCACAGTCACTGATGTACA	0.318																																						ENST00000555186.1																			0																																																			0							g.chr15:20496806A>G			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496806A>G								NR_038836.1						0	859	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.318	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		3	13	0	0	0	1	0	3	13				
KIF27	55582	broad.mit.edu	37	9	86465162	86465162	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:86465162T>G	ENST00000297814.2	-	16	3551	c.3408A>C	c.(3406-3408)gaA>gaC	p.E1136D	RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1070D|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1039D|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1136					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCATTTTCATTTCTTCATTAT	0.383																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(3406-3408)gaA>gaC		kinesin family member 27							103.0	95.0	98.0					9																	86465162		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86465162T>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3408A>C	9.37:g.86465162T>G	ENSP00000297814:p.Glu1136Asp					RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1070D|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1039D|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA	p.E1136D	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			16	3551	-			1136					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3408A>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.536633	0.45176	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.75704	-0.96;-0.95;-0.85	4.58	0.864	0.19068	.	0.095927	0.43416	N	0.000567	T	0.67739	0.2925	M	0.70595	2.14	0.19575	N	0.999965	B;B;B	0.18863	0.031;0.01;0.001	B;B;B	0.21708	0.036;0.017;0.002	T	0.61372	-0.7076	10	0.72032	D	0.01	.	4.9963	0.14242	0.0:0.1755:0.1543:0.6701	.	1039;1070;1136	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	D	1136;1070;1039	ENSP00000297814:E1136D;ENSP00000401688:E1070D;ENSP00000333928:E1039D	ENSP00000297814:E1136D	E	-	3	2	KIF27	85654982	1.000000	0.71417	0.880000	0.34516	0.964000	0.63967	0.621000	0.24418	-0.008000	0.14320	0.358000	0.22013	GAA		0.383	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		14	46	0	0	0	1	0	14	46				
ITIH2	3698	broad.mit.edu	37	10	7768987	7768987	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7768987G>T	ENST00000358415.4	+	10	1225	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H	ITIH2_ENST00000379587.4_Missense_Mutation_p.Q342H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	353	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTTCAACCAGAACATTCGAA	0.398																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1057-1059)caG>caT		inter-alpha-trypsin inhibitor heavy chain 2							111.0	107.0	109.0					10																	7768987		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7768987G>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1059G>T	10.37:g.7768987G>T	ENSP00000351190:p.Gln353His					ITIH2_ENST00000379587.4_Missense_Mutation_p.Q342H	p.Q353H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			10	1225	+			353			VWFA.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.1059G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	0.760	-0.769466	0.02974	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.77358	-1.09;-1.09	5.09	-0.144	0.13440	von Willebrand factor, type A (3);	0.045831	0.85682	N	0.000000	T	0.35828	0.0945	N	0.00268	-1.735	0.24556	N	0.993993	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	10	0.18710	T	0.47	-18.4346	6.8297	0.23902	0.0:0.5011:0.1315:0.3674	.	353	P19823	ITIH2_HUMAN	H	353;342	ENSP00000351190:Q353H;ENSP00000368906:Q342H	ENSP00000351190:Q353H	Q	+	3	2	ITIH2	7808993	0.998000	0.40836	0.697000	0.30258	0.084000	0.17831	0.636000	0.24644	-0.368000	0.08040	-0.275000	0.10095	CAG		0.398	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		20	37	1	0	1.00905e-13	1	1.29777e-13	20	37				
C1GALT1C1	29071	broad.mit.edu	37	X	119760240	119760240	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119760240T>C	ENST00000304661.5	-	2	1020	c.782A>G	c.(781-783)tAt>tGt	p.Y261C	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.Y261C	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	261					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						GTTGGGGTGATAAGTCATTGC	0.383																																						ENST00000304661.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(781-783)tAt>tGt		C1GALT1-specific chaperone 1							181.0	162.0	168.0					X																	119760240		2203	4300	6503	SO:0001583	missense	29071					integral to membrane		g.chrX:119760240T>C	AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.782A>G	X.37:g.119760240T>C	ENSP00000304364:p.Tyr261Cys					C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.Y261C	p.Y261C	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN			2	1020	-			261					A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	ENST00000304661.5	37	c.782A>G	CCDS14602.1	.	.	.	.	.	.	.	.	.	.	T	2.193	-0.384860	0.04966	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.52526	0.66;0.66	5.46	4.31	0.51392	.	0.513896	0.23081	N	0.052142	T	0.36826	0.0981	L	0.50333	1.59	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.26189	-1.0110	9	.	.	.	-19.9112	5.0889	0.14698	0.0:0.1679:0.1534:0.6787	.	261	Q96EU7	C1GLC_HUMAN	C	261	ENSP00000304364:Y261C;ENSP00000360363:Y261C	.	Y	-	2	0	C1GALT1C1	119644268	1.000000	0.71417	0.701000	0.30321	0.654000	0.38779	1.637000	0.37155	0.808000	0.34231	0.441000	0.28932	TAT		0.383	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058117.1	NM_152692		24	59	0	0	0	1	0	24	59				
EFCAB5	374786	broad.mit.edu	37	17	28414099	28414099	+	Missense_Mutation	SNP	C	C	T	rs201514253		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28414099C>T	ENST00000394835.3	+	19	3790	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1076C|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1200							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTATGTTTTACGCAACATGAT	0.393																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(3598-3600)Cgc>Tgc		EF-hand calcium binding domain 5							132.0	121.0	125.0					17																	28414099		1912	4142	6054	SO:0001583	missense	374786						calcium ion binding	g.chr17:28414099C>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3598C>T	17.37:g.28414099C>T	ENSP00000378312:p.Arg1200Cys					EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1076C|EFCAB5_ENST00000394832.2_Intron	p.R1200C	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			19	3790	+			1200					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3598C>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062230	0.36373	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.17054	2.3;2.35;2.34	5.53	4.57	0.56435	.	0.103999	0.42821	N	0.000649	T	0.14141	0.0342	L	0.46157	1.445	0.80722	D	1	B;P	0.36048	0.333;0.534	B;B	0.28991	0.061;0.097	T	0.03875	-1.0996	10	0.49607	T	0.09	-5.0702	10.2799	0.43532	0.0:0.8424:0.0:0.1576	.	1076;1200	E7EVS9;A4FU69	.;EFCB5_HUMAN	C	1200;1076;882	ENSP00000378312:R1200C;ENSP00000322003:R1076C;ENSP00000417009:R882C	ENSP00000322003:R1076C	R	+	1	0	EFCAB5	25438225	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.114000	0.41911	1.484000	0.48361	0.555000	0.69702	CGC		0.393	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		17	40	0	0	0	1	0	17	40				
PACS2	23241	broad.mit.edu	37	14	105860899	105860899	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105860899G>A	ENST00000325438.8	+	24	3064	c.2560G>A	c.(2560-2562)Gac>Aac	p.D854N	PACS2_ENST00000551743.1_Missense_Mutation_p.D368N|PACS2_ENST00000458164.2_Missense_Mutation_p.D869N|PACS2_ENST00000430725.2_Missense_Mutation_p.D779N|PACS2_ENST00000447393.1_Missense_Mutation_p.D858N|PACS2_ENST00000547217.1_Missense_Mutation_p.D824N|PACS2_ENST00000551801.1_Missense_Mutation_p.D55N			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	854					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGTCCTCATCGACGGCGTGGA	0.677																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(2572-2574)Gac>Aac		phosphofurin acidic cluster sorting protein 2							112.0	82.0	92.0					14																	105860899		2203	4299	6502	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105860899G>A	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2560G>A	14.37:g.105860899G>A	ENSP00000321834:p.Asp854Asn					PACS2_ENST00000430725.2_Missense_Mutation_p.D779N|PACS2_ENST00000458164.2_Missense_Mutation_p.D869N|PACS2_ENST00000551743.1_Missense_Mutation_p.D368N|PACS2_ENST00000551801.1_Missense_Mutation_p.D55N|PACS2_ENST00000547217.1_Missense_Mutation_p.D824N|PACS2_ENST00000325438.8_Missense_Mutation_p.D854N	p.D858N	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	24	2747	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	854					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.2572G>A	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095453	0.94197	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743;ENST00000551801	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.43	4.43	0.53597	.	0.125201	0.51477	D	0.000094	T	0.81527	0.4841	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	0.995;1.0;0.966;0.978	D	0.85693	0.1308	10	0.87932	D	0	-25.727	15.9686	0.79995	0.0:0.0:1.0:0.0	.	858;869;854;855	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	N	779;854;869;858;824;368;55	ENSP00000393524:D779N;ENSP00000321834:D854N;ENSP00000399732:D869N;ENSP00000393559:D858N;ENSP00000449525:D824N;ENSP00000449254:D368N;ENSP00000447544:D55N	ENSP00000321834:D854N	D	+	1	0	PACS2	104931944	1.000000	0.71417	0.996000	0.52242	0.823000	0.46562	9.668000	0.98619	2.180000	0.69256	0.655000	0.94253	GAC		0.677	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		25	59	0	0	0	1	0	25	59				
RAB3IP	117177	broad.mit.edu	37	12	70149248	70149248	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70149248G>A	ENST00000247833.7	+	2	436	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RAB3IP_ENST00000362025.5_Silent_p.P36P|RAB3IP_ENST00000378815.6_Silent_p.P20P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000550536.1_Silent_p.P36P|RAB3IP_ENST00000483530.2_Silent_p.P20P					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACTTCTCCGGACCTTCTTG	0.443																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(106-108)ccG>ccA		RAB3A interacting protein							146.0	128.0	134.0					12																	70149248		2203	4300	6503	SO:0001819	synonymous_variant	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149248G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.60G>A	12.37:g.70149248G>A						RAB3IP_ENST00000378815.6_Silent_p.P20P|RAB3IP_ENST00000362025.5_Silent_p.P36P|RAB3IP_ENST00000247833.7_Silent_p.P20P|RAB3IP_ENST00000483530.2_Silent_p.P20P|RAB3IP_ENST00000325555.9_5'UTR	p.P36P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	565	+	Esophageal squamous(21;0.187)		36						Silent	SNP	ENST00000247833.7	37	c.108G>A	CCDS8995.1																																																																																				0.443	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		22	43	0	0	0	1	0	22	43				
KIAA0430	9665	broad.mit.edu	37	16	15710987	15710987	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:15710987A>G	ENST00000396368.3	-	15	3205	c.2999T>C	c.(2998-3000)gTg>gCg	p.V1000A	KIAA0430_ENST00000551742.1_Missense_Mutation_p.V1000A|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V997A|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000540441.2_Missense_Mutation_p.V835A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V997A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1000					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGAAAGAATCACAAAAGGAAT	0.453																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(2998-3000)gTg>gCg		KIAA0430							106.0	103.0	104.0					16																	15710987		1874	4107	5981	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15710987A>G	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2999T>C	16.37:g.15710987A>G	ENSP00000379654:p.Val1000Ala					KIAA0430_ENST00000540441.2_Missense_Mutation_p.V835A|KIAA0430_ENST00000551742.1_Missense_Mutation_p.V1000A|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V997A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V997A|KIAA0430_ENST00000344181.3_Intron	p.V1000A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			15	3205	-			999					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2999T>C	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113472	0.56398	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742	.	.	.	5.47	5.47	0.80525	.	0.065488	0.64402	D	0.000009	T	0.49029	0.1533	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.20671	0.016;0.047;0.047;0.009	B;B;B;B	0.19391	0.016;0.025;0.025;0.007	T	0.48958	-0.8988	9	0.54805	T	0.06	.	10.2284	0.43241	0.9228:0.0:0.0772:0.0	.	999;997;996;999	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	A	1000;835;999;997;1000	.	ENSP00000315718:V999A	V	-	2	0	KIAA0430	15618488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.573000	0.74009	2.077000	0.62373	0.459000	0.35465	GTG		0.453	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		12	69	0	0	0	1	0	12	69				
SEMA6D	80031	broad.mit.edu	37	15	48052094	48052094	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48052094C>T	ENST00000316364.5	+	2	538	c.99C>T	c.(97-99)gtC>gtT	p.V33V	SEMA6D_ENST00000358066.4_Silent_p.V33V|SEMA6D_ENST00000389432.2_Silent_p.V33V|SEMA6D_ENST00000558816.1_Silent_p.V33V|SEMA6D_ENST00000558014.1_Silent_p.V33V|SEMA6D_ENST00000536845.2_Silent_p.V33V|SEMA6D_ENST00000537942.1_Silent_p.V33V|SEMA6D_ENST00000389425.3_Silent_p.V33V|SEMA6D_ENST00000355997.3_Silent_p.V33V|SEMA6D_ENST00000354744.4_Silent_p.V33V|SEMA6D_ENST00000389428.3_Silent_p.V33V|SEMA6D_ENST00000389433.2_Silent_p.V33V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	33	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTAATACTGTCGACTATCACT	0.438																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(97-99)gtC>gtT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							155.0	122.0	133.0					15																	48052094		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48052094C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.99C>T	15.37:g.48052094C>T						SEMA6D_ENST00000389433.2_Silent_p.V33V|SEMA6D_ENST00000537942.1_Silent_p.V33V|SEMA6D_ENST00000358066.4_Silent_p.V33V|SEMA6D_ENST00000536845.2_Silent_p.V33V|SEMA6D_ENST00000389432.2_Silent_p.V33V|SEMA6D_ENST00000354744.4_Silent_p.V33V|SEMA6D_ENST00000355997.3_Silent_p.V33V|SEMA6D_ENST00000558014.1_Silent_p.V33V|SEMA6D_ENST00000389428.3_Silent_p.V33V|SEMA6D_ENST00000558816.1_Silent_p.V33V|SEMA6D_ENST00000389425.3_Silent_p.V33V	p.V33V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	2	538	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	33			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.99C>T	CCDS32225.1																																																																																				0.438	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		14	22	0	0	0	1	0	14	22				
OR52E6	390078	broad.mit.edu	37	11	5862509	5862509	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5862509G>T	ENST00000329322.5	-	1	618	c.619C>A	c.(619-621)Ctc>Atc	p.L207I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.L211I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	207						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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATAACAAGAGAGAAATACTG	0.473																																						ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(619-621)Ctc>Atc		olfactory receptor, family 52, subfamily E, member 6							67.0	66.0	66.0					11																	5862509		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862509G>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.619C>A	11.37:g.5862509G>T	ENSP00000328878:p.Leu207Ile					TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.L211I	p.L207I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	618	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	207					Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.619C>A	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	G	1.964	-0.438105	0.04636	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.39406	1.08;1.08	3.45	-6.91	0.01649	GPCR, rhodopsin-like superfamily (1);	0.554937	0.16105	N	0.229363	T	0.13841	0.0335	N	0.05510	-0.035	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.20438	-1.0275	10	0.14252	T	0.57	.	4.8203	0.13387	0.0803:0.1811:0.1282:0.6105	.	207	Q96RD3	O52E6_HUMAN	I	207;211	ENSP00000328878:L207I;ENSP00000369279:L211I	ENSP00000328878:L207I	L	-	1	0	OR52E6	5819085	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-2.804000	0.00759	-1.692000	0.01428	-0.269000	0.10298	CTC		0.473	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		20	44	1	0	2.4624e-09	1	2.95225e-09	20	44				
NKRF	55922	broad.mit.edu	37	X	118724345	118724345	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118724345T>C	ENST00000371527.1	-	2	1695	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.D363G|NKRF_ENST00000304449.5_Missense_Mutation_p.D348G	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	348					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ACCAATTGCATCATTTGCATT	0.408																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1042-1044)gAt>gGt		NFKB repressing factor							107.0	103.0	104.0					X																	118724345		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724345T>C	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1043A>G	X.37:g.118724345T>C	ENSP00000360582:p.Asp348Gly					NKRF_ENST00000542113.1_Missense_Mutation_p.D363G|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.D348G	p.D348G	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	1695	-			348					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1043A>G	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915098	0.33815	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.79653	-1.29;-1.29;-1.29	5.81	5.81	0.92471	Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	L	0.51422	1.61	0.80722	D	1	B	0.34372	0.451	B	0.33339	0.162	T	0.76686	-0.2868	10	0.51188	T	0.08	-22.0643	14.2249	0.65853	0.0:0.0:0.0:1.0	.	348	O15226	NKRF_HUMAN	G	348;348;363	ENSP00000360582:D348G;ENSP00000304803:D348G;ENSP00000442308:D363G	ENSP00000304803:D348G	D	-	2	0	NKRF	118608373	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	7.661000	0.83786	1.958000	0.56883	0.486000	0.48141	GAT		0.408	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		25	89	0	0	0	1	0	25	89				
FMN2	56776	broad.mit.edu	37	1	240635744	240635744	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240635744C>T	ENST00000319653.9	+	17	5363	c.5133C>T	c.(5131-5133)gaC>gaT	p.D1711D	FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000545751.1_Silent_p.D307D|FMN2_ENST00000543681.1_Silent_p.D31D|AL646016.1_ENST00000596886.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1711					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAGACATGACTCTGGAATTG	0.274																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(5131-5133)gaC>gaT		formin 2							68.0	76.0	74.0					1																	240635744		2203	4296	6499	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240635744C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5133C>T	1.37:g.240635744C>T						FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000543681.1_Silent_p.D31D|FMN2_ENST00000545751.1_Silent_p.D307D|AL646016.1_ENST00000596886.1_Intron	p.D1711D	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		17	5363	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1711					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.5133C>T	CCDS31069.2																																																																																				0.274	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	28	0	0	0	1	0	5	28				
WARS	7453	broad.mit.edu	37	14	100826997	100826997	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:100826997G>A	ENST00000355338.2	-	4	934	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_ENST00000554084.1_5'UTR|WARS_ENST00000556645.1_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000557135.1_Missense_Mutation_p.R106W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	106					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(316-318)Cgg>Tgg		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						152.0	141.0	144.0					14																	100826997		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100826997G>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.316C>T	14.37:g.100826997G>A	ENSP00000347495:p.Arg106Trp					WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W	p.R106W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			4	934	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	106					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.316C>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469492	0.43839	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.67;1.57	5.46	4.57	0.56435	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.071226	0.64402	D	0.000011	T	0.75649	0.3878	M	0.88640	2.97	0.51767	D	0.99993	P	0.50819	0.939	B	0.41412	0.356	T	0.81858	-0.0739	10	0.87932	D	0	-2.1292	14.3863	0.66947	0.0715:0.0:0.9285:0.0	.	106	P23381	SYWC_HUMAN	W	106;65;106;65;106;65;65;65;106;65;65;65;106;106;140;106;106;106	ENSP00000376620:R106W;ENSP00000351481:R65W;ENSP00000347495:R106W;ENSP00000339485:R65W;ENSP00000451460:R106W;ENSP00000451887:R65W;ENSP00000451490:R65W;ENSP00000451251:R65W;ENSP00000450500:R106W;ENSP00000451599:R65W;ENSP00000452519:R65W;ENSP00000451544:R65W;ENSP00000450427:R106W;ENSP00000451349:R106W;ENSP00000450934:R140W;ENSP00000451469:R106W;ENSP00000451402:R106W;ENSP00000452550:R106W	ENSP00000339485:R65W	R	-	1	2	WARS	99896750	1.000000	0.71417	0.489000	0.27452	0.224000	0.24922	4.645000	0.61404	1.300000	0.44818	-0.150000	0.13652	CGG		0.418	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		31	36	0	0	0	1	0	31	36				
TMX2	51075	broad.mit.edu	37	11	57505465	57505465	+	Missense_Mutation	SNP	C	C	T	rs375390370		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57505465C>T	ENST00000278422.4	+	3	343	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	111					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CTTGGATATTCGCATGGGCCT	0.393																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(331-333)Cgc>Tgc		thioredoxin-related transmembrane protein 2		C	CYS/ARG,	0,4402		0,0,2201	161.0	147.0	152.0		331,	6.2	1.0	11		152	1,8591	1.2+/-3.3	0,1,4295	no	missense,intron	TMX2	NM_015959.3,NM_001144012.2	180,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	111/297,	57505465	1,12993	2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57505465C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.331C>T	11.37:g.57505465C>T	ENSP00000278422:p.Arg111Cys					TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Intron	p.R111C	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			3	343	+			111					B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.331C>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551138	0.86127	0.0	1.16E-4	ENSG00000213593	ENST00000278422	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	U	0.000000	D	0.84019	0.5380	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83781	0.0225	9	0.62326	D	0.03	-9.8498	20.4549	0.99139	0.0:1.0:0.0:0.0	.	111	Q9Y320	TMX2_HUMAN	C	111	.	ENSP00000278422:R111C	R	+	1	0	TMX2	57262041	0.998000	0.40836	0.998000	0.56505	0.982000	0.71751	3.687000	0.54692	2.937000	0.99478	0.650000	0.86243	CGC		0.393	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		40	61	0	0	0	1	0	40	61				
TCHH	7062	broad.mit.edu	37	1	152085512	152085512	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152085512G>T	ENST00000368804.1	-	2	180	c.181C>A	c.(181-183)Ctg>Atg	p.L61M		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	61	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAAGATCCAGAAGTTCCAGG	0.408																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(181-183)Ctg>Atg		trichohyalin							44.0	43.0	43.0					1																	152085512		1870	4119	5989	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085512G>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.181C>A	1.37:g.152085512G>T	ENSP00000357794:p.Leu61Met						p.L61M	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	180	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		61			EF-hand 2.|S-100-like.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.181C>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	13.10	2.136581	0.37728	.	.	ENSG00000159450	ENST00000368804	T	0.16196	2.36	4.58	4.58	0.56647	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.40015	0.1100	M	0.91972	3.26	0.29309	N	0.868127	D	0.89917	1.0	D	0.91635	0.999	T	0.35325	-0.9793	9	0.87932	D	0	-19.56	13.0828	0.59123	0.0:0.0:1.0:0.0	.	61	Q07283	TRHY_HUMAN	M	61	ENSP00000357794:L61M	ENSP00000357794:L61M	L	-	1	2	TCHH	150352136	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	3.832000	0.55783	2.532000	0.85374	0.450000	0.29827	CTG		0.408	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		16	24	1	0	2.23348e-06	1	2.50077e-06	16	24				
BMPR2	659	broad.mit.edu	37	2	203379620	203379620	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:203379620A>G	ENST00000374580.4	+	5	1078	c.539A>G	c.(538-540)aAa>aGa	p.K180R	BMPR2_ENST00000374574.2_Missense_Mutation_p.K180R	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	180					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GGAGACCGTAAACAAGGTCTT	0.343																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(538-540)aAa>aGa		bone morphogenetic protein receptor, type II (serine/threonine kinase)							136.0	124.0	128.0					2																	203379620		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203379620A>G	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.539A>G	2.37:g.203379620A>G	ENSP00000363708:p.Lys180Arg					BMPR2_ENST00000374574.2_Missense_Mutation_p.K180R	p.K180R	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			5	1078	+			180					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.539A>G	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.912304	0.92178	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.90261	-2.64;-2.49	5.92	5.92	0.95590	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91188	0.7224	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.76494	0.991;0.999	P;D	0.66196	0.631;0.942	D	0.88735	0.3239	10	0.17369	T	0.5	.	16.3678	0.83341	1.0:0.0:0.0:0.0	.	180;180	Q13161;Q13873	.;BMPR2_HUMAN	R	180	ENSP00000363708:K180R;ENSP00000363702:K180R	ENSP00000363702:K180R	K	+	2	0	BMPR2	203087865	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.630000	0.90987	2.254000	0.74563	0.528000	0.53228	AAA		0.343	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		15	21	0	0	0	1	0	15	21				
OR52N5	390075	broad.mit.edu	37	11	5798916	5798916	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5798916A>C	ENST00000317093.2	-	1	981	c.949T>G	c.(949-951)Ttc>Gtc	p.F317V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TCACCCTGGAAGAACTTTATG	0.348																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(949-951)Ttc>Gtc		olfactory receptor, family 52, subfamily N, member 5							95.0	87.0	90.0					11																	5798916		2122	4091	6213	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5798916A>C	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.949T>G	11.37:g.5798916A>C	ENSP00000322866:p.Phe317Val					TRIM5_ENST00000380027.1_Intron	p.F317V	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	981	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	317					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.949T>G	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	4.579	0.107648	0.08780	.	.	ENSG00000181009	ENST00000317093	T	0.39787	1.06	3.27	3.27	0.37495	.	.	.	.	.	T	0.40546	0.1121	M	0.66439	2.03	0.09310	N	1	B	0.26708	0.157	B	0.28784	0.094	T	0.41662	-0.9496	9	0.72032	D	0.01	.	6.7666	0.23571	0.8806:0.0:0.1194:0.0	.	317	Q8NH56	O52N5_HUMAN	V	317	ENSP00000322866:F317V	ENSP00000322866:F317V	F	-	1	0	OR52N5	5755492	0.001000	0.12720	0.012000	0.15200	0.394000	0.30568	0.778000	0.26732	1.485000	0.48380	0.329000	0.21502	TTC		0.348	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		7	49	0	0	0	1	0	7	49				
STEAP4	79689	broad.mit.edu	37	7	87913198	87913198	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87913198G>A	ENST00000380079.4	-	2	488	c.387C>T	c.(385-387)caC>caT	p.H129H	AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Silent_p.H129H|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Silent_p.H129H|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	129					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTTTTACCACGTGGGCTCCTG	0.423																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(385-387)caC>caT		STEAP family member 4							133.0	121.0	125.0					7																	87913198		1889	4125	6014	SO:0001819	synonymous_variant	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913198G>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.387C>T	7.37:g.87913198G>A						AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Silent_p.H129H|STEAP4_ENST00000414498.1_Silent_p.H129H|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA	p.H129H	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			2	488	-	Esophageal squamous(14;0.00802)		129					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Silent	SNP	ENST00000380079.4	37	c.387C>T	CCDS43611.1																																																																																				0.423	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		25	74	0	0	0	1	0	25	74				
ZSCAN5A	79149	broad.mit.edu	37	19	56736267	56736267	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56736267A>C	ENST00000587340.1	-	4	844	c.149T>G	c.(148-150)tTc>tGc	p.F50C	ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.F50C|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.F50C			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	50	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGGGCAGCTGAACATCCTGAA	0.557																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(148-150)tTc>tGc		zinc finger and SCAN domain containing 5A							68.0	68.0	68.0					19																	56736267		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56736267A>C	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.149T>G	19.37:g.56736267A>C	ENSP00000467631:p.Phe50Cys					ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.F50C|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.F50C	p.F50C			Q9BUG6	ZSA5A_HUMAN			4	844	-			50			SCAN box.		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.149T>G	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.075413	0.36662	.	.	ENSG00000131848	ENST00000391713	T	0.07567	3.18	2.45	2.45	0.29901	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.37892	0.1020	H	0.96604	3.85	0.20403	N	0.999904	D	0.89917	1.0	D	0.87578	0.998	T	0.17776	-1.0358	9	0.87932	D	0	.	6.8851	0.24195	1.0:0.0:0.0:0.0	.	50	Q9BUG6	ZSA5A_HUMAN	C	50	ENSP00000375593:F50C	ENSP00000375593:F50C	F	-	2	0	ZSCAN5A	61428079	0.055000	0.20627	0.002000	0.10522	0.003000	0.03518	1.886000	0.39688	1.393000	0.46605	0.529000	0.55759	TTC		0.557	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		27	50	0	0	0	1	0	27	50				
PLP2	5355	broad.mit.edu	37	X	49029577	49029577	+	Silent	SNP	C	C	T	rs149039155		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49029577C>T	ENST00000376327.5	+	2	273	c.198C>T	c.(196-198)gtC>gtT	p.V66V	PLP2_ENST00000376322.3_Silent_p.V66V	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	66	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						TCTTTGTTGTCTACATGTGTG	0.512																																						ENST00000376327.5																			0				endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						c.(196-198)gtC>gtT		proteolipid protein 2 (colonic epithelium-enriched)		C		1,3834		0,1,1631,571	195.0	129.0	151.0		198	5.3	1.0	X	dbSNP_134	151	0,6728		0,0,2428,1872	no	coding-synonymous	PLP2	NM_002668.2		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		66/153	49029577	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	5355				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	g.chrX:49029577C>T	L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.198C>T	X.37:g.49029577C>T						PLP2_ENST00000376322.3_Silent_p.V66V	p.V66V	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN			2	273	+			66			MARVEL.		A6NDT7|Q32MM8	Silent	SNP	ENST00000376327.5	37	c.198C>T	CCDS14319.1																																																																																				0.512	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056540.1	NM_002668		15	34	0	0	0	1	0	15	34				
QPCT	25797	broad.mit.edu	37	2	37586751	37586751	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37586751A>C	ENST00000338415.3	+	3	454	c.296A>C	c.(295-297)cAg>cCg	p.Q99P	QPCT_ENST00000537448.1_Missense_Mutation_p.Q50P	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	99					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CAGAGGCTTCAGGCTGACTGG	0.398																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(295-297)cAg>cCg		glutaminyl-peptide cyclotransferase							77.0	68.0	71.0					2																	37586751		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586751A>C	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.296A>C	2.37:g.37586751A>C	ENSP00000344829:p.Gln99Pro					QPCT_ENST00000537448.1_Missense_Mutation_p.Q50P	p.Q99P	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			3	454	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	99					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.296A>C	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.995745	0.35226	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.28255	1.62;1.62;1.62	5.53	4.39	0.52855	.	0.227351	0.47093	D	0.000259	T	0.40171	0.1106	M	0.72894	2.215	0.45762	D	0.998655	P;B	0.36412	0.552;0.416	P;B	0.45712	0.491;0.296	T	0.19095	-1.0316	10	0.30078	T	0.28	-19.7577	10.8537	0.46786	0.9265:0.0:0.0735:0.0	.	50;99	Q16769-2;Q16769	.;QPCT_HUMAN	P	99;50;50	ENSP00000344829:Q99P;ENSP00000385391:Q50P;ENSP00000441606:Q50P	ENSP00000344829:Q99P	Q	+	2	0	QPCT	37440255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.659000	0.54489	2.092000	0.63282	0.533000	0.62120	CAG		0.398	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			19	29	0	0	0	1	0	19	29				
STARD7	56910	broad.mit.edu	37	2	96858113	96858113	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96858113A>G	ENST00000337288.5	-	6	1220	c.837T>C	c.(835-837)ttT>ttC	p.F279F	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	279	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TCACCTCATCAAATGACTTGT	0.488																																						ENST00000337288.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						c.(835-837)ttT>ttC		StAR-related lipid transfer (START) domain containing 7							169.0	161.0	164.0					2																	96858113		2203	4300	6503	SO:0001819	synonymous_variant	56910					mitochondrion		g.chr2:96858113A>G	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.837T>C	2.37:g.96858113A>G						STARD7_ENST00000462501.1_5'UTR	p.F279F	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN			6	1220	-			279			START.		D3DXG9|Q53T44|Q6GU43|Q969M6	Silent	SNP	ENST00000337288.5	37	c.837T>C	CCDS2017.2																																																																																				0.488	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			40	75	0	0	0	1	0	40	75				
ZNF709	163051	broad.mit.edu	37	19	12576017	12576017	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12576017C>T	ENST00000397732.3	-	4	890	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ZNF709_ENST00000428311.1_Missense_Mutation_p.R240Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTCATGATTTCGAAAAGAACT	0.383																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(718-720)cGa>cAa		zinc finger protein 709							86.0	89.0	88.0					19																	12576017		2189	4295	6484	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12576017C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.719G>A	19.37:g.12576017C>T	ENSP00000380840:p.Arg240Gln					ZNF709_ENST00000428311.1_Missense_Mutation_p.R240Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.R240Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	890	-			240					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.719G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	9.322	1.058307	0.19987	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07444	3.19;3.19	2.8	-3.26	0.05064	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29444	N	0.012129	T	0.02807	0.0084	N	0.10972	0.075	0.09310	N	1	B	0.27140	0.169	B	0.11329	0.006	T	0.46414	-0.9193	10	0.09590	T	0.72	.	8.7466	0.34589	0.0:0.5092:0.0:0.4908	.	240	Q8N972	ZN709_HUMAN	Q	240	ENSP00000380840:R240Q;ENSP00000404127:R240Q	ENSP00000404127:R240Q	R	-	2	0	ZNF709;CTD-2192J16.17	12437017	0.001000	0.12720	0.000000	0.03702	0.221000	0.24807	0.224000	0.17738	-0.644000	0.05465	-0.373000	0.07131	CGA		0.383	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		23	39	0	0	0	1	0	23	39				
UGGT2	55757	broad.mit.edu	37	13	96555127	96555127	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:96555127A>C	ENST00000376747.3	-	21	2553	c.2483T>G	c.(2482-2484)aTt>aGt	p.I828S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	828					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						GAATGTTTTAATTTTATCTCC	0.318																																						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.(2482-2484)aTt>aGt		UDP-glucose glycoprotein glucosyltransferase 2							77.0	84.0	82.0					13																	96555127		2201	4298	6499	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.chr13:96555127A>C	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.2483T>G	13.37:g.96555127A>C	ENSP00000365938:p.Ile828Ser						p.I828S	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			21	2553	-			828					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2483T>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147018	0.37923	.	.	ENSG00000102595	ENST00000376747	T	0.08370	3.1	5.66	5.66	0.87406	.	0.227351	0.43919	D	0.000517	T	0.15176	0.0366	M	0.74881	2.28	0.80722	D	1	P	0.48640	0.913	B	0.41723	0.365	T	0.01287	-1.1395	10	0.72032	D	0.01	-10.5017	15.8821	0.79211	1.0:0.0:0.0:0.0	.	828	Q9NYU1	UGGG2_HUMAN	S	828	ENSP00000365938:I828S	ENSP00000365938:I828S	I	-	2	0	UGGT2	95353128	1.000000	0.71417	0.884000	0.34674	0.593000	0.36681	7.598000	0.82745	2.156000	0.67533	0.528000	0.53228	ATT		0.318	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		19	40	0	0	0	1	0	19	40				
IL7R	3575	broad.mit.edu	37	5	35860991	35860991	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35860991C>T	ENST00000303115.3	+	2	249	c.120C>T	c.(118-120)ttC>ttT	p.F40F	IL7R_ENST00000506850.1_Silent_p.F40F|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000511982.1_Silent_p.F40F|IL7R_ENST00000343305.4_Silent_p.F40F	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	40					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTACTCATTCTCATGCTATA	0.423			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(118-120)ttC>ttT		interleukin 7 receptor							191.0	175.0	181.0					5																	35860991		2203	4299	6502	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35860991C>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.120C>T	5.37:g.35860991C>T						IL7R_ENST00000343305.4_Silent_p.F40F|IL7R_ENST00000511982.1_Silent_p.F40F|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Silent_p.F40F	p.F40F	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		2	249	+	all_lung(31;0.00015)		40					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.120C>T	CCDS3911.1																																																																																				0.423	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			19	94	0	0	0	1	0	19	94				
CXorf23	256643	broad.mit.edu	37	X	19947913	19947913	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19947913C>A	ENST00000379682.4	-	10	2129	c.2096G>T	c.(2095-2097)aGa>aTa	p.R699I	CXorf23_ENST00000379687.3_Missense_Mutation_p.R670I|CXorf23_ENST00000356980.3_3'UTR			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	699						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CTTCTTTTTTCTCATTAATCT	0.323																																						ENST00000379687.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(2008-2010)aGa>aTa		chromosome X open reading frame 23							82.0	84.0	83.0					X																	19947913		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19947913C>A	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.2096G>T	X.37:g.19947913C>A	ENSP00000369004:p.Arg699Ile					CXorf23_ENST00000466702.1_5'UTR|CXorf23_ENST00000356980.3_3'UTR|CXorf23_ENST00000379682.4_Missense_Mutation_p.R699I	p.R670I	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN			10	2042	-			699					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.2009G>T		.	.	.	.	.	.	.	.	.	.	C	21.5	4.159741	0.78226	.	.	ENSG00000173681	ENST00000379687;ENST00000379682	T;T	0.56941	0.43;0.58	5.52	4.65	0.58169	.	.	.	.	.	T	0.57917	0.2086	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.72075	0.976;0.847	T	0.54768	-0.8244	8	.	.	.	.	12.2395	0.54534	0.0:0.9177:0.0:0.0823	.	670;699	A2AJT9-2;A2AJT9	.;CX023_HUMAN	I	670;699	ENSP00000369009:R670I;ENSP00000369004:R699I	.	R	-	2	0	CXorf23	19857834	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.549000	0.36212	2.320000	0.78422	0.600000	0.82982	AGA		0.323	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		37	72	1	0	3.6622e-26	1	5.17531e-26	37	72				
ZDHHC3	51304	broad.mit.edu	37	3	44986746	44986746	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44986746G>A	ENST00000424952.2	-	3	613	c.345C>T	c.(343-345)atC>atT	p.I115I	ZDHHC3_ENST00000296127.3_Silent_p.I115I|ZDHHC3_ENST00000342790.4_Silent_p.I149I	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	115					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GTAAACTCTCGATGAATTCTT	0.527																																						ENST00000296127.3																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(343-345)atC>atT		zinc finger, DHHC-type containing 3							145.0	146.0	145.0					3																	44986746		2203	4300	6503	SO:0001819	synonymous_variant	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:44986746G>A	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.345C>T	3.37:g.44986746G>A						ZDHHC3_ENST00000342790.4_Silent_p.I149I|ZDHHC3_ENST00000424952.2_Silent_p.I115I	p.I115I	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	3	618	-			115					Q53A17|Q96BL0	Silent	SNP	ENST00000424952.2	37	c.345C>T	CCDS46811.1																																																																																				0.527	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598		53	79	0	0	0	1	0	53	79				
SULT2A1	6822	broad.mit.edu	37	19	48385443	48385443	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48385443T>C	ENST00000222002.3	-	3	509	c.370A>G	c.(370-372)Aga>Gga	p.R124G		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	124					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	AAAACATCTCTGGGATTTCTC	0.328																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(370-372)Aga>Gga		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							67.0	70.0	69.0					19																	48385443		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48385443T>C	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.370A>G	19.37:g.48385443T>C	ENSP00000222002:p.Arg124Gly						p.R124G	NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	3	509	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	124						Missense_Mutation	SNP	ENST00000222002.3	37	c.370A>G	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828762	0.32329	.	.	ENSG00000105398	ENST00000222002	D	0.85013	-1.93	4.15	3.1	0.35709	Sulfotransferase domain (1);	0.298946	0.27956	N	0.017171	D	0.91442	0.7299	M	0.87758	2.905	0.33063	D	0.534321	D	0.89917	1.0	D	0.91635	0.999	D	0.91557	0.5261	10	0.87932	D	0	.	6.7616	0.23544	0.2087:0.0:0.0:0.7913	.	124	Q06520	ST2A1_HUMAN	G	124	ENSP00000222002:R124G	ENSP00000222002:R124G	R	-	1	2	SULT2A1	53077255	0.988000	0.35896	0.999000	0.59377	0.114000	0.19823	2.639000	0.46570	0.716000	0.32124	0.533000	0.62120	AGA		0.328	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		9	65	0	0	0	1	0	9	65				
CCDC93	54520	broad.mit.edu	37	2	118705682	118705682	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118705682C>T	ENST00000376300.2	-	15	1360	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	CCDC93_ENST00000319432.5_Splice_Site_p.R407Q	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	408								p.R408L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AACACTTACTCGACAATGTGC	0.398																																						ENST00000376300.2																			1	Substitution - Missense(1)	p.R408L(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.e15+1		coiled-coil domain containing 93							257.0	257.0	257.0					2																	118705682		2203	4300	6503	SO:0001630	splice_region_variant	54520							g.chr2:118705682C>T	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1224+1G>A	2.37:g.118705682C>T						CCDC93_ENST00000319432.5_Splice_Site_p.R407_splice	p.R408_splice	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			15	1360	-			408					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Splice_Site	SNP	ENST00000376300.2	37	c.1224_splice	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038433	0.93630	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.19938	2.11;2.12	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.58428	1.81	0.49299	D	0.999772	D	0.57257	0.979	P	0.45946	0.498	T	0.01940	-1.1243	10	0.22109	T	0.4	-8.4618	17.1039	0.86657	0.0:1.0:0.0:0.0	.	408	Q567U6	CCD93_HUMAN	Q	408;407	ENSP00000365477:R408Q;ENSP00000324135:R407Q	ENSP00000324135:R407Q	R	-	2	0	CCDC93	118422152	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.668000	0.61568	2.698000	0.92095	0.650000	0.86243	CGA		0.398	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	Missense_Mutation	70	124	0	0	0	1	0	70	124				
OR52N1	79473	broad.mit.edu	37	11	5809140	5809140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5809140G>A	ENST00000317078.1	-	1	906	c.907C>T	c.(907-909)Cga>Tga	p.R303*	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACACTTTCTCGTACCTGCCTG	0.388																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(907-909)Cga>Tga		olfactory receptor, family 52, subfamily N, member 1							103.0	103.0	103.0					11																	5809140		2121	4092	6213	SO:0001587	stop_gained	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809140G>A	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.907C>T	11.37:g.5809140G>A	ENSP00000322823:p.Arg303*					TRIM5_ENST00000380027.1_Intron	p.R303*	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	906	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	303					Q6IFF6	Nonsense_Mutation	SNP	ENST00000317078.1	37	c.907C>T	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236079	0.22626	.	.	ENSG00000181001	ENST00000317078	.	.	.	4.35	2.39	0.29439	.	0.000000	0.32190	N	0.006450	.	.	.	.	.	.	0.49299	D	0.999775	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3993	0.32576	0.0849:0.0:0.7619:0.1532	.	.	.	.	X	303	.	ENSP00000322823:R303X	R	-	1	2	OR52N1	5765716	0.001000	0.12720	0.813000	0.32504	0.043000	0.13939	0.480000	0.22244	0.524000	0.28502	0.609000	0.83330	CGA		0.388	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		54	87	0	0	0	1	0	54	87				
LGR5	8549	broad.mit.edu	37	12	71978130	71978130	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71978130C>T	ENST00000266674.5	+	18	2651	c.2340C>T	c.(2338-2340)tgC>tgT	p.C780C	LGR5_ENST00000540815.2_Silent_p.C756C|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Silent_p.C708C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	780					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCTAAACTGCCCTGTGGCTT	0.428																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2338-2340)tgC>tgT		leucine-rich repeat containing G protein-coupled receptor 5							152.0	150.0	151.0					12																	71978130		2203	4300	6503	SO:0001819	synonymous_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978130C>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2340C>T	12.37:g.71978130C>T						LGR5_ENST00000540815.2_Silent_p.C756C|LGR5_ENST00000536515.1_Silent_p.C708C	p.C780C			O75473	LGR5_HUMAN			18	2651	+			780					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	c.2340C>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	2.724	-0.266024	0.05754	.	.	ENSG00000139292	ENST00000451585	.	.	.	5.84	1.95	0.26073	.	.	.	.	.	T	0.61887	0.2383	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62558	-0.6829	5	0.72032	D	0.01	.	7.5435	0.27753	0.0:0.6484:0.1198:0.2319	.	.	.	.	S	760	.	ENSP00000414152:P760S	P	+	1	0	LGR5	70264397	0.134000	0.22483	0.998000	0.56505	0.602000	0.36980	-0.411000	0.07142	0.802000	0.34089	0.650000	0.86243	CCC		0.428	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		37	86	0	0	0	1	0	37	86				
TRPC5	7224	broad.mit.edu	37	X	111019917	111019917	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111019917A>T	ENST00000262839.2	-	11	3464	c.2546T>A	c.(2545-2547)tTc>tAc	p.F849Y		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	849					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAATTTGGAGAATAGGAGACC	0.458																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2545-2547)tTc>tAc		transient receptor potential cation channel, subfamily C, member 5							126.0	110.0	116.0					X																	111019917		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111019917A>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2546T>A	X.37:g.111019917A>T	ENSP00000262839:p.Phe849Tyr						p.F849Y	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			11	3464	-			849					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2546T>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	a	14.87	2.664529	0.47572	.	.	ENSG00000072315	ENST00000262839	T	0.71461	-0.57	5.7	5.7	0.88788	.	0.144155	0.44688	D	0.000422	T	0.67813	0.2933	N	0.19112	0.55	0.52099	D	0.99994	P	0.49447	0.924	P	0.57776	0.827	T	0.63296	-0.6669	10	0.08837	T	0.75	-7.2182	14.9758	0.71269	1.0:0.0:0.0:0.0	.	849	Q9UL62	TRPC5_HUMAN	Y	849	ENSP00000262839:F849Y	ENSP00000262839:F849Y	F	-	2	0	TRPC5	110906573	1.000000	0.71417	0.987000	0.45799	0.954000	0.61252	7.113000	0.77095	1.919000	0.55581	0.483000	0.47432	TTC		0.458	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		47	81	0	0	0	1	0	47	81				
ANP32A	8125	broad.mit.edu	37	15	69076874	69076874	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69076874C>T	ENST00000465139.2	-	4	531	c.388G>A	c.(388-390)Gac>Aac	p.D130N	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Missense_Mutation_p.D130N	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	130	LRRCT.				gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TCTCGGTAGTCGTTCAGGTTG	0.483																																						ENST00000465139.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(388-390)Gac>Aac		acidic (leucine-rich) nuclear phosphoprotein 32 family, member A							103.0	108.0	106.0					15																	69076874		2200	4298	6498	SO:0001583	missense	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69076874C>T	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.388G>A	15.37:g.69076874C>T	ENSP00000417864:p.Asp130Asn					ANP32A_ENST00000560303.1_Missense_Mutation_p.D130N|ANP32A_ENST00000483551.2_5'UTR	p.D130N	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN			4	531	-			130			LRRCT.		B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	c.388G>A	CCDS45292.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558714	0.45590	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	T	0.54479	0.57	5.5	4.58	0.56647	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.090555	0.85682	D	0.000000	T	0.26557	0.0649	N	0.04260	-0.245	0.54753	D	0.999988	B	0.27498	0.18	B	0.21917	0.037	T	0.16247	-1.0409	10	0.07813	T	0.8	.	13.8174	0.63301	0.0:0.9251:0.0:0.0749	.	130	P39687	AN32A_HUMAN	N	130	ENSP00000417864:D130N	ENSP00000350970:D130N	D	-	1	0	ANP32A	66863928	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.689000	0.68234	2.580000	0.87095	0.655000	0.94253	GAC		0.483	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			36	48	0	0	0	1	0	36	48				
PTPN11	5781	broad.mit.edu	37	12	112893786	112893786	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:112893786A>C	ENST00000351677.2	+	6	873	c.675A>C	c.(673-675)gaA>gaC	p.E225D	PTPN11_ENST00000392597.1_Missense_Mutation_p.E225D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	225					abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATGCTGCTGAAATAGAAAGCA	0.348			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(673-675)gaA>gaC		protein tyrosine phosphatase, non-receptor type 11							59.0	55.0	56.0					12																	112893786		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112893786A>C	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.675A>C	12.37:g.112893786A>C	ENSP00000340944:p.Glu225Asp					PTPN11_ENST00000392597.1_Missense_Mutation_p.E225D	p.E225D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			6	873	+			225					A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.675A>C	CCDS9163.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.973|4.973	0.180694|0.180694	0.09443|0.09443	.|.	.|.	ENSG00000179295|ENSG00000179295	ENST00000392597;ENST00000351677|ENST00000530818	D;D|.	0.99277|.	-5.67;-5.67|.	5.03|5.03	1.38|1.38	0.22167|0.22167	.|.	0.094721|.	0.64402|.	D|.	0.000001|.	T|T	0.13372|0.13372	0.0324|0.0324	N|N	0.00926|0.00926	-1.1|-1.1	0.48288|0.48288	D|D	0.999623|0.999623	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.05971|0.05971	-1.0853|-1.0853	10|5	0.02654|.	T|.	1|.	.|.	3.5432|3.5432	0.07819|0.07819	0.3074:0.0:0.4728:0.2198|0.3074:0.0:0.4728:0.2198	.|.	225;225|.	Q06124-2;Q06124-3|.	.;.|.	D|T	225|70	ENSP00000376376:E225D;ENSP00000340944:E225D|.	ENSP00000340944:E225D|.	E|K	+|+	3|2	2|0	PTPN11|PTPN11	111378169|111378169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	1.314000|1.314000	0.33597|0.33597	0.284000|0.284000	0.22305|0.22305	0.374000|0.374000	0.22700|0.22700	GAA|AAA		0.348	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			19	26	0	0	0	1	0	19	26				
BRWD3	254065	broad.mit.edu	37	X	79951425	79951425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79951425C>A	ENST00000373275.4	-	27	3349	c.3133G>T	c.(3133-3135)Gaa>Taa	p.E1045*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1045					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAGTTCCTTTCTTTGGCTTCA	0.308																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3133-3135)Gaa>Taa		bromodomain and WD repeat domain containing 3							77.0	71.0	73.0					X																	79951425		2203	4292	6495	SO:0001587	stop_gained	254065							g.chrX:79951425C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3133G>T	X.37:g.79951425C>A	ENSP00000362372:p.Glu1045*					BRWD3_ENST00000473691.1_5'UTR	p.E1045*	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			27	3349	-			1045					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	c.3133G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	44	11.207682	0.99531	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.7727	17.9069	0.88921	0.0:1.0:0.0:0.0	.	.	.	.	X	1045	.	.	E	-	1	0	BRWD3	79838081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.519000	0.84933	0.538000	0.68166	GAA		0.308	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		6	15	1	0	0.00198382	1	0.00207034	6	15				
ABCA8	10351	broad.mit.edu	37	17	66903902	66903902	+	Nonsense_Mutation	SNP	C	C	A	rs199766554	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66903902C>A	ENST00000269080.2	-	16	2274	c.2137G>T	c.(2137-2139)Gaa>Taa	p.E713*	ABCA8_ENST00000586539.1_Nonsense_Mutation_p.E753*|ABCA8_ENST00000430352.2_Nonsense_Mutation_p.E753*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	713					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTTGTTCTTTCTAAGGGTAAT	0.303																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2137-2139)Gaa>Taa		ATP-binding cassette, sub-family A (ABC1), member 8							133.0	128.0	129.0					17																	66903902		2203	4297	6500	SO:0001587	stop_gained	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66903902C>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2137G>T	17.37:g.66903902C>A	ENSP00000269080:p.Glu713*					ABCA8_ENST00000430352.2_Nonsense_Mutation_p.E753*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.E753*	p.E713*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			16	2274	-	Breast(10;4.56e-13)		713					A1L3U3|C9JQE6|Q86WW0	Nonsense_Mutation	SNP	ENST00000269080.2	37	c.2137G>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	41	9.114668	0.99069	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	.	.	.	4.9	4.9	0.64082	.	0.000000	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	17.2378	0.87004	0.0:1.0:0.0:0.0	.	.	.	.	X	713;753;692	.	ENSP00000269080:E713X	E	-	1	0	ABCA8	64415497	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	3.090000	0.50191	2.544000	0.85801	0.655000	0.94253	GAA		0.303	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		6	9	1	0	3.59834e-05	1	3.93264e-05	6	9				
THBS2	7058	broad.mit.edu	37	6	169629697	169629697	+	Silent	SNP	G	G	A	rs148360643		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:169629697G>A	ENST00000366787.3	-	15	2478	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	743					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CATTGTCATCGTCATCATCAC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18965	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2227-2229)gaC>gaT		thrombospondin 2		G		1,4405	2.1+/-5.4	0,1,2202	213.0	184.0	194.0		2229	-3.9	0.5	6	dbSNP_134	194	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	THBS2	NM_003247.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		743/1173	169629697	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169629697G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2229C>T	6.37:g.169629697G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.D743D	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	15	2478	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	743					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.2229C>T	CCDS34574.1																																																																																				0.547	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		32	64	0	0	0	1	0	32	64				
CHL1	10752	broad.mit.edu	37	3	424189	424189	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:424189G>T	ENST00000256509.2	+	18	2653	c.2011G>T	c.(2011-2013)Gag>Tag	p.E671*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.E655*|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAACAAAGAAGAGCCTGGAAG	0.373																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(2011-2013)Gag>Tag		cell adhesion molecule L1-like							91.0	106.0	101.0					3																	424189		2203	4300	6503	SO:0001587	stop_gained	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:424189G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2011G>T	3.37:g.424189G>T	ENSP00000256509:p.Glu671*					CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Nonsense_Mutation_p.E655*	p.E671*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	18	2653	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	655			Fibronectin type-III 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000256509.2	37	c.2011G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	44	10.953605	0.99494	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	4.75	4.75	0.60458	.	0.241410	0.40640	N	0.001045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.0856	0.89456	0.0:0.0:1.0:0.0	.	.	.	.	X	671;655	.	ENSP00000256509:E671X	E	+	1	0	CHL1	399189	1.000000	0.71417	0.860000	0.33809	0.880000	0.50808	4.866000	0.63005	2.336000	0.79503	0.591000	0.81541	GAG		0.373	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		30	86	1	0	1.30988e-24	1	1.84044e-24	30	86				
ZAN	7455	broad.mit.edu	37	7	100349380	100349380	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100349380C>A	ENST00000348028.3	+	0	1817				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTTTCTTCCACTGGCCCTTCT	0.463																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							75.0	82.0	80.0					7																	100349380		1871	4101	5972			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349380C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349380C>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1800	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	8.468	0.856952	0.17106	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.17370	2.32;2.31;2.28	2.75	0.897	0.19258	.	.	.	.	.	T	0.15046	0.0363	L	0.55481	1.735	0.09310	N	0.999996	B;B	0.24963	0.115;0.07	B;B	0.24155	0.051;0.023	T	0.29701	-1.0003	9	0.87932	D	0	.	4.0417	0.09755	0.0:0.6111:0.246:0.143	.	551;551	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	551	ENSP00000445943:T551N;ENSP00000445091:T551N;ENSP00000444427:T551N	ENSP00000423579:T551N	T	+	2	0	ZAN	100187316	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.004000	0.12878	0.215000	0.20761	-0.156000	0.13503	ACT		0.463	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	48	1	0	2.0095e-06	1	2.25447e-06	6	48				
KHK	3795	broad.mit.edu	37	2	27315234	27315234	+	Missense_Mutation	SNP	G	G	A	rs104893644		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27315234G>A	ENST00000260599.6	+	2	640	c.127G>A	c.(127-129)Gcg>Acg	p.A43T	KHK_ENST00000260598.5_Missense_Mutation_p.A43T|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	43			A -> T (in FRUCT). {ECO:0000269|PubMed:7833921}.		carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAGGCAACGCGTCCAACTC	0.612																																						ENST00000260599.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	GRCh37	CM940997	KHK	M	rs104893644	c.(127-129)Gcg>Acg		ketohexokinase (fructokinase)		G	THR/ALA,THR/ALA	0,4406		0,0,2203	86.0	73.0	78.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	127,127	5.5	1.0	2	dbSNP_132	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KHK	NM_000221.2,NM_006488.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	43/299,43/299	27315234	1,13005	2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27315234G>A		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.127G>A	2.37:g.27315234G>A	ENSP00000260599:p.Ala43Thr					KHK_ENST00000260598.5_Missense_Mutation_p.A43T|KHK_ENST00000490823.1_3'UTR	p.A43T	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN			2	640	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		43		A -> T (in FRUCT).			Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.127G>A	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506585	0.96386	0.0	1.16E-4	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.68331	-0.32;-0.32;-0.32	5.5	5.5	0.81552	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	M	0.64630	1.985	0.80722	A	1	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.63877	0.919;0.814;0.919	T	0.79933	-0.1594	9	0.54805	T	0.06	-8.0E-4	16.8828	0.86067	0.0:0.0:1.0:0.0	.	43;43;43	Q6IBK2;P50053-2;P50053	.;.;KHK_HUMAN	T	43	ENSP00000260599:A43T;ENSP00000260598:A43T;ENSP00000404741:A43T	ENSP00000260598:A43T	A	+	1	0	KHK	27168738	1.000000	0.71417	0.987000	0.45799	0.875000	0.50365	8.905000	0.92613	2.595000	0.87683	0.462000	0.41574	GCG		0.612	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			25	37	0	0	0	1	0	25	37				
TEX26	122046	broad.mit.edu	37	13	31526864	31526864	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31526864T>C	ENST00000380473.3	+	3	227	c.214T>C	c.(214-216)Tat>Cat	p.Y72H		NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	72																	TCAGACACAATATAGTGATGA	0.343																																						ENST00000380473.3																			0											c.(214-216)Tat>Cat		testis expressed 26							107.0	102.0	104.0					13																	31526864		2203	4296	6499	SO:0001583	missense	122046							g.chr13:31526864T>C	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.214T>C	13.37:g.31526864T>C	ENSP00000369840:p.Tyr72His						p.Y72H	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN			3	227	+			72						Missense_Mutation	SNP	ENST00000380473.3	37	c.214T>C	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348859	0.41599	.	.	ENSG00000175664	ENST00000380473	T	0.61040	0.14	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000020	T	0.71896	0.3394	M	0.70275	2.135	0.35053	D	0.760848	D	0.89917	1.0	D	0.87578	0.998	T	0.80558	-0.1329	10	0.87932	D	0	-8.7946	9.7772	0.40626	0.0:0.0:0.0:1.0	.	72	Q8N6G2	CM026_HUMAN	H	72	ENSP00000369840:Y72H	ENSP00000369840:Y72H	Y	+	1	0	C13orf26	30424864	0.993000	0.37304	0.756000	0.31282	0.355000	0.29361	3.486000	0.53215	1.799000	0.52666	0.383000	0.25322	TAT		0.343	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		25	31	0	0	0	1	0	25	31				
PTPRM	5797	broad.mit.edu	37	18	8406109	8406109	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:8406109T>G	ENST00000332175.8	+	31	5345	c.4308T>G	c.(4306-4308)gaT>gaG	p.D1436E	RP11-789C17.1_ENST00000578897.1_RNA|RP11-789C17.5_ENST00000579805.1_RNA|PTPRM_ENST00000444013.1_Missense_Mutation_p.D1223E|PTPRM_ENST00000580170.1_Missense_Mutation_p.D1449E|PTPRM_ENST00000400053.4_Missense_Mutation_p.D1374E|PTPRM_ENST00000400060.4_Missense_Mutation_p.D1450E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1436	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTTCCAGGATCAGTACAAGT	0.443																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(4306-4308)gaT>gaG		protein tyrosine phosphatase, receptor type, M							159.0	138.0	146.0					18																	8406109		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8406109T>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4308T>G	18.37:g.8406109T>G	ENSP00000331418:p.Asp1436Glu					PTPRM_ENST00000400053.4_Missense_Mutation_p.D1374E|PTPRM_ENST00000400060.4_Missense_Mutation_p.D1450E|PTPRM_ENST00000444013.1_Missense_Mutation_p.D1223E|PTPRM_ENST00000580170.1_Missense_Mutation_p.D1449E	p.D1436E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			31	5345	+		Colorectal(10;0.234)	1436			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.4308T>G	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	5.760	0.324554	0.10900	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	6.17	-2.93	0.05598	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.720518	0.13690	N	0.369595	T	0.48554	0.1506	N	0.01464	-0.85	0.49915	D	0.999837	B;B;B	0.14012	0.001;0.002;0.009	B;B;B	0.21360	0.016;0.019;0.034	T	0.38757	-0.9646	10	0.08179	T	0.78	.	2.6832	0.05100	0.096:0.1837:0.1977:0.5226	.	1223;1449;1436	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	E	1436;1450;1374;1223	ENSP00000331418:D1436E;ENSP00000382933:D1450E;ENSP00000382927:D1374E;ENSP00000387608:D1223E	ENSP00000331418:D1436E	D	+	3	2	PTPRM	8396109	0.987000	0.35691	0.993000	0.49108	0.971000	0.66376	0.044000	0.13992	-0.325000	0.08577	0.533000	0.62120	GAT		0.443	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			14	31	0	0	0	1	0	14	31				
HAS2	3037	broad.mit.edu	37	8	122641078	122641078	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:122641078G>A	ENST00000303924.4	-	2	1040	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	168					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TACGTGTTGCGAGCTTTCTTT	0.448																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(502-504)tCg>tTg		hyaluronan synthase 2							376.0	327.0	344.0					8																	122641078		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641078G>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.503C>T	8.37:g.122641078G>A	ENSP00000306991:p.Ser168Leu						p.S168L	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1040	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		168					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.503C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	5.338	0.247611	0.10130	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.43688	0.94	5.87	5.87	0.94306	.	0.480009	0.22302	N	0.061853	T	0.20414	0.0491	N	0.08118	0	0.32306	N	0.564442	B	0.02656	0.0	B	0.01281	0.0	T	0.23511	-1.0186	10	0.15952	T	0.53	-4.3164	8.0339	0.30480	0.1846:0.0:0.8154:0.0	.	168	Q92819	HAS2_HUMAN	L	168	ENSP00000306991:S168L	ENSP00000306991:S168L	S	-	2	0	HAS2	122710259	1.000000	0.71417	0.955000	0.39395	0.012000	0.07955	6.378000	0.73150	2.941000	0.99782	0.655000	0.94253	TCG		0.448	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		59	124	0	0	0	1	0	59	124				
TMEM39A	55254	broad.mit.edu	37	3	119165904	119165904	+	Missense_Mutation	SNP	C	C	T	rs559521023		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119165904C>T	ENST00000319172.5	-	5	956	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	179						integral component of membrane (GO:0016021)		p.R179Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TGAATGGCTTCGAAAGAGATT	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		18325	0.001		0.0	False		,,,				2504	0.0					ENST00000319172.5																			1	Substitution - Missense(1)	p.R179Q(1)	NS(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(535-537)cGa>cAa		transmembrane protein 39A							124.0	109.0	114.0					3																	119165904		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119165904C>T	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.536G>A	3.37:g.119165904C>T	ENSP00000326063:p.Arg179Gln					TMEM39A_ENST00000486159.1_Intron	p.R179Q	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	5	956	-			179					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.536G>A	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075009	0.55646	.	.	ENSG00000176142	ENST00000319172;ENST00000468676	T	0.42900	0.96	5.07	3.25	0.37280	.	0.124291	0.52532	N	0.000069	T	0.21022	0.0506	N	0.21373	0.66	0.45594	D	0.998537	P	0.47604	0.898	B	0.32533	0.147	T	0.02781	-1.1111	10	0.27785	T	0.31	-2.0E-4	8.9932	0.36037	0.1483:0.7746:0.0:0.0772	.	179	Q9NV64	TM39A_HUMAN	Q	179	ENSP00000326063:R179Q	ENSP00000326063:R179Q	R	-	2	0	TMEM39A	120648594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.843000	0.39259	0.683000	0.31428	0.563000	0.77884	CGA		0.418	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		20	30	0	0	0	1	0	20	30				
FGG	2266	broad.mit.edu	37	4	155533543	155533543	+	Splice_Site	SNP	G	G	A	rs141554929		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155533543G>A	ENST00000336098.3	-	2	161	c.123C>T	c.(121-123)ttC>ttT	p.F41F	FGG_ENST00000404648.3_Splice_Site_p.F41F|FGG_ENST00000407946.1_Splice_Site_p.F41F|FGG_ENST00000405164.1_Splice_Site_p.F41F	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	41					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)	AACTACTTACGAATCTTTCAT	0.338																																						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.e2+1		fibrinogen gamma chain	Sucralfate(DB00364)	G	,	1,4401		0,1,2200	136.0	147.0	143.0		123,123	1.9	1.0	4	dbSNP_134	143	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	FGG	NM_000509.4,NM_021870.2	,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,	41/438,41/454	155533543	1,13001	2201	4300	6501	SO:0001630	splice_region_variant	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.chr4:155533543G>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.123+1C>T	4.37:g.155533543G>A						FGG_ENST00000336098.3_Splice_Site_p.F41_splice|FGG_ENST00000407946.1_Splice_Site_p.F41_splice|FGG_ENST00000405164.1_Splice_Site_p.F41_splice	p.F41_splice	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			2	362	-	all_hematologic(180;0.215)	Renal(120;0.0458)	41					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Splice_Site	SNP	ENST00000336098.3	37	c.123_splice	CCDS3788.1																																																																																				0.338	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	Silent	11	145	0	0	0	1	0	11	145				
MEGF11	84465	broad.mit.edu	37	15	66206168	66206168	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66206168G>A	ENST00000409699.2	-	20	2789	c.2617C>T	c.(2617-2619)Cgg>Tgg	p.R873W	MEGF11_ENST00000288745.3_Missense_Mutation_p.R798W|MEGF11_ENST00000395614.1_Missense_Mutation_p.R46W|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.R798W|MEGF11_ENST00000422354.1_Missense_Mutation_p.R873W|MEGF11_ENST00000360698.4_3'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	873					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCCGCCGCCGATGCCAGGCA	0.612																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2617-2619)Cgg>Tgg		multiple EGF-like-domains 11							53.0	49.0	50.0					15																	66206168		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66206168G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2617C>T	15.37:g.66206168G>A	ENSP00000386908:p.Arg873Trp					MEGF11_ENST00000422354.1_Missense_Mutation_p.R873W|MEGF11_ENST00000288745.3_Missense_Mutation_p.R798W|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395614.1_Missense_Mutation_p.R46W|MEGF11_ENST00000395625.2_Missense_Mutation_p.R798W	p.R873W			A6BM72	MEG11_HUMAN			20	2789	-			873					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.2617C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418746	0.83559	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000395614	D;D;D;D;T	0.88201	-2.35;-2.22;-2.35;-2.22;0.55	4.65	4.65	0.58169	.	0.000000	0.38605	U	0.001635	D	0.93949	0.8063	M	0.73217	2.22	0.47183	D	0.999348	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94681	0.7865	10	0.87932	D	0	.	17.7124	0.88325	0.0:0.0:1.0:0.0	.	873;798	A6BM72;A6BM72-2	MEG11_HUMAN;.	W	873;798;873;798;46	ENSP00000386908:R873W;ENSP00000288745:R798W;ENSP00000414475:R873W;ENSP00000378987:R798W;ENSP00000378976:R46W	ENSP00000288745:R798W	R	-	1	2	MEGF11	63993222	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	4.546000	0.60705	2.407000	0.81776	0.555000	0.69702	CGG		0.612	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		12	46	0	0	0	1	0	12	46				
DSC2	1824	broad.mit.edu	37	18	28671063	28671063	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28671063C>T	ENST00000280904.6	-	4	845	c.402G>A	c.(400-402)aaG>aaA	p.K134K	DSC2_ENST00000251081.6_Silent_p.K134K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	134					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCCATCTTCTCTTGGCGCGCC	0.388																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(400-402)aaG>aaA		desmocollin 2							129.0	118.0	122.0					18																	28671063		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28671063C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.402G>A	18.37:g.28671063C>T						DSC2_ENST00000251081.6_Silent_p.K134K	p.K134K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		4	845	-			134						Silent	SNP	ENST00000280904.6	37	c.402G>A	CCDS11892.1																																																																																				0.388	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		17	41	0	0	0	1	0	17	41				
UNC79	57578	broad.mit.edu	37	14	94007016	94007016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94007016G>T	ENST00000393151.2	+	13	1363	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.E278*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.E455*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E455*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	455					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTGTTGAAAGAAGCCGAGTT	0.498																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1363-1365)Gaa>Taa		unc-79 homolog (C. elegans)							65.0	71.0	69.0					14																	94007016		2203	4300	6503	SO:0001587	stop_gained	57578					integral to membrane		g.chr14:94007016G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1363G>T	14.37:g.94007016G>T	ENSP00000376858:p.Glu455*					UNC79_ENST00000555664.1_Nonsense_Mutation_p.E455*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E278*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E455*	p.E455*			Q9P2D8	UNC79_HUMAN			13	1517	+			455					B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37	c.1363G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.573856	0.98368	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.686	19.9659	0.97266	0.0:0.0:1.0:0.0	.	.	.	.	X	278;455;455;455;455	.	ENSP00000256339:E278X	E	+	1	0	KIAA1409	93076769	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.869000	0.99810	2.711000	0.92665	0.650000	0.86243	GAA		0.498	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		21	43	1	0	8.04996e-18	1	1.08523e-17	21	43				
OR8B2	26595	broad.mit.edu	37	11	124253032	124253032	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124253032C>A	ENST00000375013.2	-	1	226	c.208G>T	c.(208-210)Gat>Tat	p.D70Y		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAACAGAGATCAATGAAGGAG	0.403																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(208-210)Gat>Tat		olfactory receptor, family 8, subfamily B, member 2							143.0	134.0	137.0					11																	124253032		2201	4296	6497	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253032C>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.208G>T	11.37:g.124253032C>A	ENSP00000364152:p.Asp70Tyr						p.D70Y	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	226	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	70					Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.208G>T	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	14.60	2.584216	0.46110	.	.	ENSG00000204293	ENST00000375013	T	0.01185	5.21	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.08268	0.0206	H	0.98048	4.135	0.27324	N	0.956956	D	0.57899	0.981	P	0.49752	0.621	T	0.24693	-1.0153	10	0.87932	D	0	.	15.7133	0.77649	0.0:1.0:0.0:0.0	.	70	Q96RD0	OR8B2_HUMAN	Y	70	ENSP00000364152:D70Y	ENSP00000364152:D70Y	D	-	1	0	OR8B2	123758242	0.958000	0.32768	0.149000	0.22428	0.551000	0.35334	2.866000	0.48420	2.359000	0.80004	0.400000	0.26472	GAT		0.403	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		35	104	1	0	4.62619e-21	1	6.37263e-21	35	104				
SPATA9	83890	broad.mit.edu	37	5	95018287	95018287	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95018287A>G	ENST00000274432.8	-	2	236	c.95T>C	c.(94-96)gTa>gCa	p.V32A	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.V32A|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	32					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		AAACTCATCTACAAGGTCCAT	0.318																																						ENST00000274432.8																			0				large_intestine(3)|lung(4)	7						c.(94-96)gTa>gCa		spermatogenesis associated 9							99.0	102.0	101.0					5																	95018287		2203	4300	6503	SO:0001583	missense	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:95018287A>G	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.95T>C	5.37:g.95018287A>G	ENSP00000274432:p.Val32Ala					RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.V32A|SPATA9_ENST00000477047.2_5'UTR	p.V32A	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	2	236	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	32					A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	c.95T>C	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	A	9.874	1.199803	0.22121	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.50813	0.73	4.7	2.2	0.27929	.	0.870643	0.09691	N	0.768437	T	0.25232	0.0613	N	0.08118	0	0.18873	N	0.999981	B	0.09022	0.002	B	0.08055	0.003	T	0.19614	-1.0300	10	0.49607	T	0.09	-1.1025	4.1662	0.10308	0.7253:0.0:0.0976:0.1772	.	32	Q9BWV2	SPAT9_HUMAN	A	32	ENSP00000274432:V32A	ENSP00000274432:V32A	V	-	2	0	SPATA9	95044043	0.855000	0.29742	0.378000	0.26068	0.996000	0.88848	1.512000	0.35812	0.275000	0.22094	0.460000	0.39030	GTA		0.318	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		13	26	0	0	0	1	0	13	26				
CEP162	22832	broad.mit.edu	37	6	84859327	84859327	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84859327G>T	ENST00000403245.3	-	24	3839	c.3725C>A	c.(3724-3726)tCt>tAt	p.S1242Y	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S1166Y	NM_014895.2	NP_055710.2												p.S1242Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTGGAAGAAGAATTTTCTAC	0.363																																						ENST00000403245.3																			1	Substitution - Missense(1)	p.S1242Y(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3724-3726)tCt>tAt		KIAA1009							149.0	147.0	148.0					6																	84859327		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84859327G>T																												ENST00000403245.3:c.3725C>A	6.37:g.84859327G>T	ENSP00000385215:p.Ser1242Tyr					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S1166Y	p.S1242Y	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	24	3839	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	1242						Missense_Mutation	SNP	ENST00000403245.3	37	c.3725C>A	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271141	0.80469	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.22945	1.93;1.93	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.76002	2.32	0.51767	D	0.999933	D	0.63880	0.993	D	0.63192	0.912	T	0.45804	-0.9236	10	0.72032	D	0.01	-4.8016	19.008	0.92859	0.0:0.0:1.0:0.0	.	1242	Q5TB80	QN1_HUMAN	Y	1166;1242	ENSP00000257766:S1166Y;ENSP00000385215:S1242Y	ENSP00000257766:S1166Y	S	-	2	0	KIAA1009	84916046	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.216000	0.89764	2.470000	0.83445	0.460000	0.39030	TCT		0.363	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			17	29	1	0	0.000422831	1	0.000449533	17	29				
PCDH12	51294	broad.mit.edu	37	5	141325152	141325152	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141325152G>T	ENST00000231484.3	-	4	4559	c.3349C>A	c.(3349-3351)Ctg>Atg	p.L1117M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1117					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCATCTCCAGCAGTGAGCTC	0.647																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(3349-3351)Ctg>Atg		protocadherin 12							48.0	44.0	45.0					5																	141325152		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141325152G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3349C>A	5.37:g.141325152G>T	ENSP00000231484:p.Leu1117Met						p.L1117M	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	4559	-		all_hematologic(541;0.0999)	1117					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.3349C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584276	0.65992	.	.	ENSG00000113555	ENST00000231484	T	0.56444	0.46	6.07	-5.58	0.02512	.	0.071415	0.56097	D	0.000034	T	0.51822	0.1697	L	0.60455	1.87	0.27037	N	0.9641	D	0.54397	0.966	P	0.50440	0.641	T	0.60005	-0.7347	10	0.62326	D	0.03	.	14.3442	0.66649	0.4628:0.0:0.5372:0.0	.	1117	Q9NPG4	PCD12_HUMAN	M	1117	ENSP00000231484:L1117M	ENSP00000231484:L1117M	L	-	1	2	PCDH12	141305336	1.000000	0.71417	0.589000	0.28718	0.754000	0.42855	1.695000	0.37763	-1.399000	0.02063	-1.728000	0.00702	CTG		0.647	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		29	38	1	0	3.00307e-07	1	3.44266e-07	29	38				
USP34	9736	broad.mit.edu	37	2	61415812	61415812	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61415812G>A	ENST00000398571.2	-	80	10142	c.10066C>T	c.(10066-10068)Cgt>Tgt	p.R3356C	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3356					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTGCTAACACGCCGCCTTTTA	0.478																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(10066-10068)Cgt>Tgt		ubiquitin specific peptidase 34							81.0	77.0	78.0					2																	61415812		1974	4160	6134	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61415812G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10066C>T	2.37:g.61415812G>A	ENSP00000381577:p.Arg3356Cys						p.R3356C	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10142	-			3356					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.10066C>T	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.46|17.46	3.395839|3.395839	0.62177|0.62177	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	.|T	.|0.04758	.|3.56	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.13030|0.13030	0.0316|0.0316	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.71414	.|0.973	T|T	0.05550|0.05550	-1.0878|-1.0878	5|10	.|0.66056	.|D	.|0.02	.|.	19.584|19.584	0.95484|0.95484	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3356	.|Q70CQ2	.|UBP34_HUMAN	V|C	1032|3204;3121;3356;234	.|ENSP00000381577:R3356C	.|ENSP00000263989:R3204C	A|R	-|-	2|1	0|0	USP34|USP34	61269316|61269316	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.979000|0.979000	0.70002|0.70002	5.391000|5.391000	0.66266|0.66266	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GCG|CGT		0.478	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			21	20	0	0	0	1	0	21	20				
HEXDC	284004	broad.mit.edu	37	17	80377718	80377718	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80377718G>A	ENST00000327949.9	+	1	54	c.43G>A	c.(43-45)Gac>Aac	p.D15N	Y_RNA_ENST00000364369.1_RNA|HEXDC_ENST00000337014.6_Missense_Mutation_p.D15N|HEXDC_ENST00000577944.1_Missense_Mutation_p.D15N|OGFOD3_ENST00000313056.5_5'Flank|OGFOD3_ENST00000329197.5_5'Flank			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	15					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGTTCATTTAGACCTTAAAGG	0.433																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(43-45)Gac>Aac		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							89.0	90.0	90.0					17																	80377718		1875	4090	5965	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80377718G>A	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.43G>A	17.37:g.80377718G>A	ENSP00000332634:p.Asp15Asn					HEXDC_ENST00000327949.9_Missense_Mutation_p.D15N|HEXDC_ENST00000577944.1_Missense_Mutation_p.D15N	p.D15N	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		2	517	+	Breast(20;0.00106)|all_neural(118;0.0804)		15					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.43G>A		.	.	.	.	.	.	.	.	.	.	G	24.3	4.510675	0.85389	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.99900	-7.63;-7.63	4.97	4.97	0.65823	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.165901	0.44097	D	0.000485	D	0.99880	0.9943	M	0.85041	2.73	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96118	0.9082	10	0.87932	D	0	-45.2912	15.7781	0.78240	0.0:0.0:1.0:0.0	.	15;15	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	N	15	ENSP00000337854:D15N;ENSP00000332634:D15N	ENSP00000332634:D15N	D	+	1	0	HEXDC	77971007	1.000000	0.71417	0.992000	0.48379	0.593000	0.36681	5.979000	0.70508	2.568000	0.86640	0.655000	0.94253	GAC		0.433	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		8	36	0	0	0	1	0	8	36				
CDH23	64072	broad.mit.edu	37	10	73544715	73544715	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:73544715A>G	ENST00000224721.6	+	42	5590	c.5585A>G	c.(5584-5586)aAc>aGc	p.N1862S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1857	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCCCATGAACATCACCATC	0.597																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5584-5586)aAc>aGc		cadherin-related 23							95.0	101.0	99.0					10																	73544715		2195	4287	6482	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544715A>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5585A>G	10.37:g.73544715A>G	ENSP00000224721:p.Asn1862Ser						p.N1862S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			42	5590	+			1857			Cadherin 18.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5585A>G		.	.	.	.	.	.	.	.	.	.	A	9.950	1.219975	0.22373	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	4.35	4.35	0.52113	Cadherin (3);Cadherin-like (1);	0.056957	0.64402	D	0.000002	T	0.46367	0.1389	N	0.25332	0.735	0.80722	D	1	P	0.52170	0.951	P	0.53760	0.734	T	0.40553	-0.9557	9	0.02654	T	1	.	13.8261	0.63351	1.0:0.0:0.0:0.0	.	1857	Q9H251	CAD23_HUMAN	S	1862;1857;1860	.	ENSP00000224721:N1862S	N	+	2	0	CDH23	73214721	1.000000	0.71417	0.955000	0.39395	0.383000	0.30230	9.248000	0.95456	1.731000	0.51592	0.254000	0.18369	AAC		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		27	62	0	0	0	1	0	27	62				
TBX1	6899	broad.mit.edu	37	22	19751728	19751728	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19751728C>T	ENST00000329705.7	+	5	692	c.563C>T	c.(562-564)gCc>gTc	p.A188V	TBX1_ENST00000332710.4_Missense_Mutation_p.A188V|TBX1_ENST00000359500.3_Missense_Mutation_p.A188V	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	188					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCCGACCCTGCCACGCCAGGC	0.662																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(562-564)gCc>gTc		T-box 1							53.0	41.0	45.0					22																	19751728		2203	4298	6501	SO:0001583	missense	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19751728C>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.563C>T	22.37:g.19751728C>T	ENSP00000331176:p.Ala188Val					TBX1_ENST00000359500.3_Missense_Mutation_p.A188V|TBX1_ENST00000329705.7_Missense_Mutation_p.A188V	p.A188V	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			5	692	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	188					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.563C>T	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850636	0.71719	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.87887	-2.31;-2.31;-2.31	4.75	4.75	0.60458	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.75708	0.3886	N	0.13098	0.295	0.80722	D	1	P;P;B	0.36465	0.554;0.554;0.356	B;B;B	0.28638	0.092;0.092;0.092	T	0.76228	-0.3036	10	0.30078	T	0.28	.	17.418	0.87506	0.0:1.0:0.0:0.0	.	188;188;188	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	V	188	ENSP00000331791:A188V;ENSP00000331176:A188V;ENSP00000352483:A188V	ENSP00000331176:A188V	A	+	2	0	TBX1	18131728	1.000000	0.71417	0.998000	0.56505	0.815000	0.46073	4.704000	0.61831	2.206000	0.71126	0.558000	0.71614	GCC		0.662	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		25	54	0	0	0	1	0	25	54				
FCGBP	8857	broad.mit.edu	37	19	40363943	40363943	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40363943T>C	ENST00000221347.6	-	31	14706	c.14699A>G	c.(14698-14700)gAg>gGg	p.E4900G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4900	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCATTCTTCTCAAGCACGAT	0.587																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14698-14700)gAg>gGg		Fc fragment of IgG binding protein							99.0	81.0	87.0					19																	40363943		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40363943T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14699A>G	19.37:g.40363943T>C	ENSP00000221347:p.Glu4900Gly						p.E4900G	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		31	14706	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4900			VWFD 12.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14699A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.931320	0.34096	.	.	ENSG00000090920	ENST00000221347	T	0.59502	0.26	5.04	5.04	0.67666	von Willebrand factor, type D domain (3);	0.144122	0.45126	U	0.000395	T	0.69637	0.3133	M	0.67953	2.075	0.30575	N	0.763093	D	0.89917	1.0	D	0.97110	1.0	T	0.69409	-0.5153	10	0.39692	T	0.17	.	7.8154	0.29256	0.0:0.0945:0.0:0.9055	.	4900	Q9Y6R7	FCGBP_HUMAN	G	4900	ENSP00000221347:E4900G	ENSP00000221347:E4900G	E	-	2	0	FCGBP	45055783	0.955000	0.32602	0.973000	0.42090	0.050000	0.14768	2.294000	0.43567	2.038000	0.60285	0.260000	0.18958	GAG		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		31	53	0	0	0	1	0	31	53				
MAGEA4	4103	broad.mit.edu	37	X	151093031	151093031	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151093031C>T	ENST00000360243.2	+	3	1162	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	299	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(895-897)Cgc>Tgc		melanoma antigen family A, 4							118.0	111.0	114.0					X																	151093031		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151093031C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.895C>T	X.37:g.151093031C>T	ENSP00000353379:p.Arg299Cys					MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000360243.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C	p.R299C			P43358	MAGA4_HUMAN			3	1162	+	Acute lymphoblastic leukemia(192;6.56e-05)		299			MAGE.		Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.895C>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371334	0.42003	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000370337;ENST00000393920;ENST00000370340;ENST00000370335;ENST00000360243	T;T;T;T;T;T;T	0.01599	4.74;4.74;4.74;4.74;4.74;4.74;4.74	2.55	2.55	0.30701	.	0.240065	0.42964	D	0.000630	T	0.03390	0.0098	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	P	0.47645	0.553	T	0.36890	-0.9729	9	.	.	.	.	7.8294	0.29334	0.0:1.0:0.0:0.0	.	299	P43358	MAGA4_HUMAN	C	299	ENSP00000276344:R299C;ENSP00000377498:R299C;ENSP00000359362:R299C;ENSP00000377497:R299C;ENSP00000359365:R299C;ENSP00000359360:R299C;ENSP00000353379:R299C	.	R	+	1	0	MAGEA4	150843687	0.001000	0.12720	0.002000	0.10522	0.017000	0.09413	0.673000	0.25203	1.554000	0.49487	0.292000	0.19580	CGC		0.567	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		67	142	0	0	0	1	0	67	142				
SAMD15	161394	broad.mit.edu	37	14	77844235	77844235	+	Silent	SNP	T	T	C	rs367989546		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77844235T>C	ENST00000216471.4	+	1	760	c.474T>C	c.(472-474)gaT>gaC	p.D158D	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	158										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGAAACAGATCCAGATCCAG	0.488																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(472-474)gaT>gaC		sterile alpha motif domain containing 15							98.0	106.0	103.0					14																	77844235		2203	4300	6503	SO:0001819	synonymous_variant	161394							g.chr14:77844235T>C	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.474T>C	14.37:g.77844235T>C						SAMD15_ENST00000533095.2_Intron	p.D158D	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			1	760	+			158					Q2M3P3	Silent	SNP	ENST00000216471.4	37	c.474T>C	CCDS32126.1																																																																																				0.488	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		80	125	0	0	0	1	0	80	125				
HSDL1	83693	broad.mit.edu	37	16	84163651	84163651	+	Silent	SNP	C	C	T	rs148654230		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:84163651C>T	ENST00000219439.4	-	4	782	c.606G>A	c.(604-606)acG>acA	p.T202T	HSDL1_ENST00000434463.3_Silent_p.T147T	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	202						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CAGAAGAGATCGTGACGATGG	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18729	0.0		0.0	False		,,,				2504	0.0					ENST00000219439.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(604-606)acG>acA		hydroxysteroid dehydrogenase like 1		C	,	0,4400		0,0,2200	115.0	97.0	103.0		441,606	-7.0	0.6	16	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HSDL1	NM_001146051.1,NM_031463.4	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	147/276,202/331	84163651	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	83693					mitochondrion	oxidoreductase activity|protein binding	g.chr16:84163651C>T	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	16475	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 3"""					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.606G>A	16.37:g.84163651C>T						HSDL1_ENST00000434463.3_Silent_p.T147T	p.T202T	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN			4	782	-			202					B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Silent	SNP	ENST00000219439.4	37	c.606G>A	CCDS10942.1																																																																																				0.483	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		35	55	0	0	0	1	0	35	55				
DHTKD1	55526	broad.mit.edu	37	10	12136102	12136102	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:12136102T>C	ENST00000263035.4	+	7	1252	c.1190T>C	c.(1189-1191)gTc>gCc	p.V397A	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	397					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATCATCCATGTCAATGGAGAC	0.517																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1189-1191)gTc>gCc		dehydrogenase E1 and transketolase domain containing 1							182.0	151.0	162.0					10																	12136102		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12136102T>C	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1190T>C	10.37:g.12136102T>C	ENSP00000263035:p.Val397Ala					DHTKD1_ENST00000465617.1_3'UTR	p.V397A	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		7	1252	+		Renal(717;0.228)	397					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1190T>C	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217544	0.79352	.	.	ENSG00000181192	ENST00000263035;ENST00000415935	D;D	0.99143	-5.48;-5.48	4.59	4.59	0.56863	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98512	1.0619	10	0.87932	D	0	-14.5002	13.9962	0.64402	0.0:0.0:0.0:1.0	.	397	Q96HY7	DHTK1_HUMAN	A	397;95	ENSP00000263035:V397A;ENSP00000400625:V95A	ENSP00000263035:V397A	V	+	2	0	DHTKD1	12176108	1.000000	0.71417	0.996000	0.52242	0.718000	0.41266	7.859000	0.86982	1.706000	0.51276	0.402000	0.26972	GTC		0.517	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		21	91	0	0	0	1	0	21	91				
CD48	962	broad.mit.edu	37	1	160651093	160651093	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160651093G>A	ENST00000368046.3	-	3	638	c.551C>T	c.(550-552)aCc>aTc	p.T184I	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	184	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGCATAAGGGTGGTTTCAAG	0.498																																						ENST00000368046.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(550-552)aCc>aTc		CD48 molecule							171.0	152.0	159.0					1																	160651093		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651093G>A	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.551C>T	1.37:g.160651093G>A	ENSP00000357025:p.Thr184Ile					RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	p.T184I	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	638	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		184			Ig-like C2-type 2.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.551C>T	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	G	8.145	0.786134	0.16189	.	.	ENSG00000117091	ENST00000368046	T	0.12774	2.65	3.57	-2.13	0.07144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.085050	0.06941	N	0.812766	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	0.999998	P;P	0.47484	0.573;0.896	B;P	0.44394	0.23;0.448	T	0.35425	-0.9789	10	0.16896	T	0.51	-0.0682	7.8823	0.29629	0.5811:0.0:0.4189:0.0	.	184;184	Q6IAZ2;P09326	.;CD48_HUMAN	I	184	ENSP00000357025:T184I	ENSP00000357025:T184I	T	-	2	0	CD48	158917717	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.625000	0.02036	-0.441000	0.07201	-0.345000	0.07892	ACC		0.498	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		36	87	0	0	0	1	0	36	87				
CRADD	8738	broad.mit.edu	37	12	94243956	94243956	+	Missense_Mutation	SNP	G	G	A	rs141179774		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94243956G>A	ENST00000542893.2	+	3	827	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Missense_Mutation_p.R170H|CRADD_ENST00000541813.1_Intron			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	170	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGCGGCAGCGCTTCGGGAAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18459	0.0		0.001	False		,,,				2504	0.0					ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(508-510)cGc>cAc		CASP2 and RIPK1 domain containing adaptor with death domain		G	HIS/ARG	0,4406		0,0,2203	47.0	44.0	45.0		509	4.7	1.0	12	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CRADD	NM_003805.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	170/200	94243956	2,13004	2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94243956G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.509G>A	12.37:g.94243956G>A	ENSP00000439068:p.Arg170His					CRADD_ENST00000332896.3_Missense_Mutation_p.R170H|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR	p.R170H			P78560	CRADD_HUMAN			3	827	+			170			Death.		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.509G>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581119	0.86748	0.0	2.33E-4	ENSG00000169372	ENST00000332896;ENST00000542893	D;D	0.86865	-2.18;-2.18	5.76	4.69	0.59074	Death (3);DEATH-like (2);	0.275697	0.37261	N	0.002177	D	0.88291	0.6397	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.49597	0.616	D	0.89748	0.3938	10	0.87932	D	0	-17.7443	15.6915	0.77457	0.0762:0.0:0.9238:0.0	.	170	P78560	CRADD_HUMAN	H	170	ENSP00000327647:R170H;ENSP00000439068:R170H	ENSP00000327647:R170H	R	+	2	0	CRADD	92768087	0.993000	0.37304	0.997000	0.53966	0.967000	0.64934	2.179000	0.42528	2.724000	0.93272	0.563000	0.77884	CGC		0.637	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		24	41	0	0	0	1	0	24	41				
CENPI	2491	broad.mit.edu	37	X	100387279	100387279	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100387279C>A	ENST00000372927.1	+	13	1665	c.1388C>A	c.(1387-1389)cCt>cAt	p.P463H	CENPI_ENST00000423383.1_Missense_Mutation_p.P463H|CENPI_ENST00000372926.1_Missense_Mutation_p.P463H|CENPI_ENST00000218507.5_Missense_Mutation_p.P463H	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	463					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGCTGGATTCCTTTTAGTAGC	0.388																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(1387-1389)cCt>cAt		centromere protein I							176.0	169.0	171.0					X																	100387279		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100387279C>A	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1388C>A	X.37:g.100387279C>A	ENSP00000362018:p.Pro463His					CENPI_ENST00000218507.5_Missense_Mutation_p.P463H|CENPI_ENST00000423383.1_Missense_Mutation_p.P463H|CENPI_ENST00000372926.1_Missense_Mutation_p.P463H	p.P463H	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			13	1665	+			463					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1388C>A	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.277522	0.80580	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82161	-0.0594	9	0.72032	D	0.01	-13.71	18.611	0.91285	0.0:1.0:0.0:0.0	.	463;463	B4DZL4;Q92674	.;CENPI_HUMAN	H	463	.	ENSP00000218507:P463H	P	+	2	0	CENPI	100273935	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.450000	0.73477	2.339000	0.79563	0.506000	0.49869	CCT		0.388	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		49	88	1	0	1.67753e-36	1	2.4137e-36	49	88				
SVEP1	79987	broad.mit.edu	37	9	113275275	113275275	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:113275275G>T	ENST00000401783.2	-	5	1570	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I	SVEP1_ENST00000302728.8_Missense_Mutation_p.L412I|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.L389I|SVEP1_ENST00000374461.1_Missense_Mutation_p.L389I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	412	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTTCCCACAAGATCAAATCCA	0.468																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1234-1236)Ctt>Att		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							122.0	116.0	118.0					9																	113275275		1948	4156	6104	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113275275G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1234C>A	9.37:g.113275275G>T	ENSP00000384917:p.Leu412Ile					SVEP1_ENST00000302728.8_Missense_Mutation_p.L412I|SVEP1_ENST00000374461.1_Missense_Mutation_p.L389I|SVEP1_ENST00000374469.1_Missense_Mutation_p.L389I|SVEP1_ENST00000467821.1_5'UTR	p.L412I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			5	1570	-			412			Sushi 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1234C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434106	0.83776	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.99	4.92	0.64577	Complement control module (2);Growth factor, receptor (1);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.87617	2.895	0.40526	D	0.980881	D;D;D;D	0.89917	1.0;1.0;0.997;0.998	D;D;D;D	0.87578	0.998;0.998;0.94;0.996	D	0.85159	0.0991	10	0.72032	D	0.01	.	12.4675	0.55768	0.1407:0.0:0.8593:0.0	.	412;412;412;412	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	I	412;389;412;389	ENSP00000384917:L412I;ENSP00000363593:L389I;ENSP00000304118:L412I;ENSP00000363585:L389I	ENSP00000304118:L412I	L	-	1	0	SVEP1	112315096	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.410000	0.66381	2.840000	0.97914	0.655000	0.94253	CTT		0.468	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	42	1	0	2.4624e-09	1	2.95225e-09	20	42				
SLC12A1	6557	broad.mit.edu	37	15	48594949	48594949	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48594949G>A	ENST00000558405.1	+	26	3181	c.3167G>A	c.(3166-3168)aGc>aAc	p.S1056N	SLC12A1_ENST00000396577.3_Missense_Mutation_p.S1056N|SLC12A1_ENST00000380993.3_Missense_Mutation_p.S1056N			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1056					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTCATTAGGAGCCTTCCCGTG	0.388																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(3166-3168)aGc>aAc		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						100.0	100.0	100.0					15																	48594949		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48594949G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.3167G>A	15.37:g.48594949G>A	ENSP00000453409:p.Ser1056Asn					SLC12A1_ENST00000380993.3_Missense_Mutation_p.S1056N|SLC12A1_ENST00000558405.1_Missense_Mutation_p.S1056N	p.S1056N	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	27	3382	+		all_lung(180;0.00219)	1056					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.3167G>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760573	0.89932	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.85861	-2.04;-2.04	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	L	0.50919	1.6	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.979	D	0.90778	0.4677	10	0.87932	D	0	.	20.1581	0.98126	0.0:0.0:1.0:0.0	.	1056;1056	E9PDW4;Q13621	.;S12A1_HUMAN	N	1056	ENSP00000370381:S1056N;ENSP00000379822:S1056N	ENSP00000370381:S1056N	S	+	2	0	SLC12A1	46382241	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.694000	0.98686	2.937000	0.99478	0.650000	0.86243	AGC		0.388	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			13	30	0	0	0	1	0	13	30				
PEAK1	79834	broad.mit.edu	37	15	77473298	77473298	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:77473298G>T	ENST00000560626.2	-	4	1446	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	PEAK1_ENST00000558305.1_Missense_Mutation_p.S324Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.S324Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	324	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGAGACCACAGAATTTTCCTC	0.443																																						ENST00000560626.2																			0											c.(970-972)tCt>tAt		pseudopodium-enriched atypical kinase 1							86.0	77.0	80.0					15																	77473298		1924	4138	6062	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473298G>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.971C>A	15.37:g.77473298G>T	ENSP00000452796:p.Ser324Tyr					PEAK1_ENST00000558305.1_Missense_Mutation_p.S324Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.S324Y	p.S324Y			Q9H792	PEAK1_HUMAN			4	1446	-			324			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.971C>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426054	0.43020	.	.	ENSG00000173517	ENST00000312493	T	0.71341	-0.56	5.3	5.3	0.74995	.	0.587506	0.12189	U	0.491334	T	0.68393	0.2996	L	0.27053	0.805	0.35713	D	0.816549	P	0.51653	0.947	P	0.47744	0.556	T	0.75961	-0.3133	10	0.87932	D	0	-6.7486	17.136	0.86739	0.0:0.0:1.0:0.0	.	324	Q9H792	PEAK1_HUMAN	Y	324	ENSP00000309230:S324Y	ENSP00000309230:S324Y	S	-	2	0	AC087465.1	75260353	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	3.356000	0.52269	2.469000	0.83416	0.557000	0.71058	TCT		0.443	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			25	34	1	0	5.35356e-11	1	6.62625e-11	25	34				
ZFHX3	463	broad.mit.edu	37	16	72829497	72829497	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:72829497C>T	ENST00000268489.5	-	9	7756	c.7084G>A	c.(7084-7086)Gac>Aac	p.D2362N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1448N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2362					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTTGGCTGTCGTCCTGCCCC	0.532																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7084-7086)Gac>Aac		zinc finger homeobox 3							131.0	124.0	126.0					16																	72829497		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829497C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7084G>A	16.37:g.72829497C>T	ENSP00000268489:p.Asp2362Asn					ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1448N	p.D2362N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7756	-		Ovarian(137;0.13)	2362					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7084G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990312	0.74589	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74002	-0.8;-0.78	5.65	5.65	0.86999	.	0.000000	0.52532	D	0.000078	T	0.81922	0.4925	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79122	-0.1933	10	0.33940	T	0.23	.	19.722	0.96147	0.0:1.0:0.0:0.0	.	2362	Q15911	ZFHX3_HUMAN	N	2362;1448	ENSP00000268489:D2362N;ENSP00000438926:D1448N	ENSP00000268489:D2362N	D	-	1	0	ZFHX3	71386998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.657000	0.90304	0.561000	0.74099	GAC		0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		50	74	0	0	0	1	0	50	74				
ACTB	60	broad.mit.edu	37	7	5568242	5568242	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:5568242C>T	ENST00000331789.5	-	4	663	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	158					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGTGACCCCGTCACCGGAG	0.607																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(472-474)Ggg>Agg		actin, beta							80.0	80.0	80.0					7																	5568242		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568242C>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.472G>A	7.37:g.5568242C>T	ENSP00000349960:p.Gly158Arg						p.G158R	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	4	663	-		Ovarian(82;0.0606)	158					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.472G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361158	0.61403	.	.	ENSG00000075624	ENST00000331789;ENST00000400179;ENST00000320713;ENST00000432588	D;D	0.98060	-4.69;-3.45	5.31	5.31	0.75309	.	0.104265	0.41605	D	0.000854	D	0.99124	0.9698	H	0.95043	3.615	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99293	1.0899	10	0.87932	D	0	.	16.5292	0.84353	0.0:1.0:0.0:0.0	.	158	P60709	ACTB_HUMAN	R	158;130;77;158	ENSP00000349960:G158R;ENSP00000407473:G158R	ENSP00000440549:G77R	G	-	1	0	ACTB	5534768	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.533000	0.81994	2.500000	0.84329	0.650000	0.86243	GGG		0.607	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		42	113	0	0	0	1	0	42	113				
HPS1	3257	broad.mit.edu	37	10	100189343	100189343	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:100189343G>A	ENST00000325103.6	-	10	1157	c.924C>T	c.(922-924)ggC>ggT	p.G308G	MIR4685_ENST00000578185.1_RNA|HPS1_ENST00000338546.5_Silent_p.G308G|HPS1_ENST00000361490.4_Silent_p.G308G|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	308					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTCTGATCGCCAGGGGAAG	0.587									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(922-924)ggC>ggT		Hermansky-Pudlak syndrome 1							78.0	78.0	78.0					10																	100189343		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100189343G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.924C>T	10.37:g.100189343G>A						HPS1_ENST00000361490.4_Silent_p.G308G|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Silent_p.G308G	p.G308G	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	10	1157	-		Colorectal(252;0.234)	308					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.924C>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	4.367	0.067704	0.08436	.	.	ENSG00000107521	ENST00000414009	.	.	.	5.28	-10.6	0.00265	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1369	0.14939	0.1348:0.3089:0.4276:0.1287	.	.	.	.	X	143	.	.	R	-	1	2	HPS1	100179333	0.000000	0.05858	0.002000	0.10522	0.612000	0.37316	-3.654000	0.00402	-2.931000	0.00300	-2.285000	0.00268	CGA		0.587	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		12	34	0	0	0	1	0	12	34				
XIRP2	129446	broad.mit.edu	37	2	168103954	168103954	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168103954C>A	ENST00000409195.1	+	9	6141	c.6052C>A	c.(6052-6054)Ctt>Att	p.L2018I	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1796I|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2018I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1843					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAGGTTAATCTTCCAAAAGC	0.438																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(6052-6054)Ctt>Att		xin actin-binding repeat containing 2							51.0	48.0	49.0					2																	168103954		1850	4089	5939	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103954C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6052C>A	2.37:g.168103954C>A	ENSP00000386840:p.Leu2018Ile					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2018I|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1796I	p.L2018I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	6141	+			1843					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6052C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.618	-0.822111	0.02755	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02656	4.21;4.21;4.21	5.64	2.79	0.32731	.	0.438364	0.21684	N	0.070661	T	0.04227	0.0117	L	0.50919	1.6	0.09310	N	1	B;P;B	0.50272	0.055;0.933;0.01	B;P;B	0.49829	0.012;0.623;0.01	T	0.34576	-0.9823	10	0.15499	T	0.54	-4.1359	4.6828	0.12743	0.3088:0.5307:0.0:0.1605	.	1843;1843;1796	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	2018;2018;1796	ENSP00000386840:L2018I;ENSP00000295237:L2018I;ENSP00000387255:L1796I	ENSP00000295237:L2018I	L	+	1	0	XIRP2	167812200	0.075000	0.21258	0.062000	0.19696	0.258000	0.26162	0.620000	0.24403	0.294000	0.22547	0.585000	0.79938	CTT		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		18	35	1	0	2.35188e-11	1	2.92451e-11	18	35				
NPAP1	23742	broad.mit.edu	37	15	24922007	24922007	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:24922007G>A	ENST00000329468.2	+	1	1467	c.993G>A	c.(991-993)tcG>tcA	p.S331S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	331	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGAAAATGTCGATTCCATTGC	0.587																																						ENST00000329468.2																			0											c.(991-993)tcG>tcA		nuclear pore associated protein 1							52.0	50.0	51.0					15																	24922007		2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24922007G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.993G>A	15.37:g.24922007G>A							p.S331S	NM_018958.2	NP_061831.2					1	1467	+									Silent	SNP	ENST00000329468.2	37	c.993G>A	CCDS10015.1																																																																																				0.587	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		27	51	0	0	0	1	0	27	51				
DOCK4	9732	broad.mit.edu	37	7	111541793	111541793	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111541793G>A	ENST00000437633.1	-	14	1513	c.1257C>T	c.(1255-1257)agC>agT	p.S419S	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.S419S	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	419	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCTGGCCACGCTCTTCCCTC	0.363																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(1255-1257)agC>agT		dedicator of cytokinesis 4							87.0	81.0	83.0					7																	111541793		1859	4097	5956	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111541793G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1257C>T	7.37:g.111541793G>A						DOCK4_ENST00000437633.1_Silent_p.S419S|DOCK4_ENST00000476846.1_5'UTR	p.S419S			Q8N1I0	DOCK4_HUMAN			14	1529	-		Acute lymphoblastic leukemia(1;0.0441)	419			DHR-1.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.1257C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	7.610	0.674638	0.14841	.	.	ENSG00000128512	ENST00000445943	.	.	.	5.86	-4.43	0.03568	.	.	.	.	.	T	0.66982	0.2845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68044	-0.5513	4	.	.	.	.	17.8095	0.88611	0.8308:0.0:0.1692:0.0	.	.	.	.	V	407	.	.	A	-	2	0	DOCK4	111329029	0.592000	0.26832	0.949000	0.38748	0.653000	0.38743	-0.124000	0.10595	-0.769000	0.04620	-0.781000	0.03364	GCG		0.363	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		8	25	0	0	0	1	0	8	25				
SERPINB5	5268	broad.mit.edu	37	18	61166405	61166405	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61166405G>A	ENST00000382771.4	+	6	912	c.620G>A	c.(619-621)gGa>gAa	p.G207E	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	207					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTCTGTATGGGAAACATTGAC	0.408																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(619-621)gGa>gAa		serpin peptidase inhibitor, clade B (ovalbumin), member 5							129.0	113.0	118.0					18																	61166405		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61166405G>A	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.620G>A	18.37:g.61166405G>A	ENSP00000372221:p.Gly207Glu					SERPINB5_ENST00000464346.1_3'UTR	p.G207E	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			6	912	+			207					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.620G>A	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793921	0.70452	.	.	ENSG00000206075	ENST00000382771	T	0.18960	2.18	5.22	5.22	0.72569	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.40346	-0.9568	10	0.66056	D	0.02	.	19.1486	0.93479	0.0:0.0:1.0:0.0	.	207	P36952	SPB5_HUMAN	E	207	ENSP00000372221:G207E	ENSP00000372221:G207E	G	+	2	0	SERPINB5	59317385	1.000000	0.71417	0.897000	0.35233	0.725000	0.41563	1.955000	0.40372	2.605000	0.88082	0.505000	0.49811	GGA		0.408	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		31	43	0	0	0	1	0	31	43				
MLLT1	4298	broad.mit.edu	37	19	6262312	6262312	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6262312T>C	ENST00000252674.7	-	3	366	c.203A>G	c.(202-204)gAg>gGg	p.E68G	CTC-503J8.4_ENST00000588192.1_RNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	68	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GTAGGGGGGCTCCTTGCACAC	0.567			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(202-204)gAg>gGg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							71.0	67.0	68.0					19																	6262312		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6262312T>C		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.203A>G	19.37:g.6262312T>C	ENSP00000252674:p.Glu68Gly						p.E68G	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			3	366	-			68			YEATS.		Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.203A>G	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.763896	0.89932	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	M	0.69185	2.1	0.80722	D	1	D	0.57571	0.98	D	0.64776	0.929	T	0.78259	-0.2273	9	0.72032	D	0.01	-33.3007	13.7235	0.62743	0.0:0.0:0.0:1.0	.	68	Q03111	ENL_HUMAN	G	68	.	ENSP00000252674:E68G	E	-	2	0	MLLT1	6213312	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.946000	0.87746	2.132000	0.65825	0.459000	0.35465	GAG		0.567	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		16	37	0	0	0	1	0	16	37				
ICA1L	130026	broad.mit.edu	37	2	203653775	203653775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:203653775C>A	ENST00000392237.2	-	12	1178	c.1021G>T	c.(1021-1023)Gaa>Taa	p.E341*	ICA1L_ENST00000358299.2_Nonsense_Mutation_p.E341*	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	341										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAAAATCTTCTCCTTCCAAT	0.368																																						ENST00000392237.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1021-1023)Gaa>Taa		islet cell autoantigen 1,69kDa-like							70.0	77.0	74.0					2																	203653775		2203	4300	6503	SO:0001587	stop_gained	130026							g.chr2:203653775C>A	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.1021G>T	2.37:g.203653775C>A	ENSP00000376070:p.Glu341*					ICA1L_ENST00000358299.2_Nonsense_Mutation_p.E341*	p.E341*	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN			12	1178	-			341					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Nonsense_Mutation	SNP	ENST00000392237.2	37	c.1021G>T	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256246	0.80246	.	.	ENSG00000163596	ENST00000392237;ENST00000358299;ENST00000420558	.	.	.	6.07	5.19	0.71726	.	0.430817	0.25427	N	0.030759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	10.3072	0.43687	0.0:0.9133:0.0:0.0867	.	.	.	.	X	341;341;91	.	ENSP00000351047:E341X	E	-	1	0	ICA1L	203362020	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.723000	0.38053	2.885000	0.99019	0.655000	0.94253	GAA		0.368	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		15	55	1	0	2.32078e-09	1	2.7896e-09	15	55				
SCYL2	55681	broad.mit.edu	37	12	100727960	100727960	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100727960C>T	ENST00000360820.2	+	14	2215	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	593					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCTTTCATTTCCGTCATAAAA	0.308																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1777-1779)tCc>tTc		SCY1-like 2 (S. cerevisiae)							89.0	91.0	91.0					12																	100727960		2203	4298	6501	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100727960C>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1778C>T	12.37:g.100727960C>T	ENSP00000354061:p.Ser593Phe						p.S593F	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			14	2215	+			593					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.1778C>T	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660314	0.47572	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.32272	1.79;1.46	5.39	5.39	0.77823	.	0.302706	0.35320	N	0.003299	T	0.36936	0.0985	L	0.61218	1.895	0.30710	N	0.749406	B	0.22800	0.075	B	0.28991	0.097	T	0.41627	-0.9498	10	0.62326	D	0.03	.	16.05	0.80749	0.0:0.8567:0.1433:0.0	.	593	Q6P3W7	SCYL2_HUMAN	F	593	ENSP00000448366:S593F;ENSP00000354061:S593F	ENSP00000354061:S593F	S	+	2	0	SCYL2	99252091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.288000	0.43514	2.666000	0.90696	0.585000	0.79938	TCC		0.308	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		21	34	0	0	0	1	0	21	34				
UGT2B4	7363	broad.mit.edu	37	4	70346621	70346621	+	Nonsense_Mutation	SNP	C	C	A	rs368457483		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:70346621C>A	ENST00000305107.6	-	6	1364	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.E304*|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.K366N|AC108078.1_ENST00000583573.1_RNA	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	440					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ATAGCATTCTCTTTATATCTA	0.418																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1318-1320)Gag>Tag		UDP glucuronosyltransferase 2 family, polypeptide B4							64.0	66.0	66.0					4																	70346621		2203	4300	6503	SO:0001587	stop_gained	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346621C>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1318G>T	4.37:g.70346621C>A	ENSP00000305221:p.Glu440*					UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.K366N|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.E304*	p.E440*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			6	1364	-			440					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Nonsense_Mutation	SNP	ENST00000305107.6	37	c.1318G>T	CCDS43234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.48|14.48	2.547276|2.547276	0.45383|0.45383	.|.	.|.	ENSG00000156096|ENSG00000156096	ENST00000305107;ENST00000381096|ENST00000512583	.|T	.|0.51071	.|0.72	2.11|2.11	1.22|1.22	0.21188|0.21188	.|.	0.000000|.	0.64402|.	U|.	0.000003|.	.|T	.|0.44414	.|0.1292	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.46718	.|0.525	.|T	.|0.42430	.|-0.9452	.|8	0.54805|0.87932	T|D	0.06|0	.|.	5.9722|5.9722	0.19359|0.19359	0.0:0.8145:0.0:0.1855|0.0:0.8145:0.0:0.1855	.|.	.|366	.|G5E9X8	.|.	X|N	440;304|366	.|ENSP00000421290:K366N	ENSP00000305221:E440X|ENSP00000421290:K366N	E|K	-|-	1|3	0|2	UGT2B4|UGT2B4	70381210|70381210	1.000000|1.000000	0.71417|0.71417	0.226000|0.226000	0.23910|0.23910	0.175000|0.175000	0.22909|0.22909	3.290000|3.290000	0.51755|0.51755	0.434000|0.434000	0.26340|0.26340	0.305000|0.305000	0.20034|0.20034	GAG|AAG		0.418	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		30	74	1	0	5.45727e-16	1	7.22369e-16	30	74				
LSM5	23658	broad.mit.edu	37	7	32526906	32526906	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:32526906C>T	ENST00000450169.2	-	5	296		c.e5-1		LSM5_ENST00000409952.3_Splice_Site|LSM5_ENST00000409987.1_Splice_Site|LSM5_ENST00000409292.1_Splice_Site|LSM5_ENST00000409909.3_Splice_Site|LSM5_ENST00000410044.1_Splice_Site|LSM5_ENST00000409782.1_Splice_Site	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CAGGAACCAGCTGCATAAAGA	0.393																																						ENST00000450169.2																			0				breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5						c.e5-1		LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)							78.0	78.0	78.0					7																	32526906		2203	4300	6503	SO:0001630	splice_region_variant	0				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr7:32526906C>T	AF182291	CCDS5438.1, CCDS47571.1	7p14.3	2003-02-17			ENSG00000106355	ENSG00000106355			17162	protein-coding gene	gene with protein product		607285				10369684, 12515382	Standard	NM_001130710		Approved	YER146W	uc003tct.2	Q9Y4Y9	OTTHUMG00000022913	ENST00000450169.2:c.244-1G>A	7.37:g.32526906C>T						LSM5_ENST00000409987.1_Splice_Site|LSM5_ENST00000409782.1_Splice_Site|LSM5_ENST00000409952.3_Splice_Site|LSM5_ENST00000409909.3_Splice_Site|LSM5_ENST00000410044.1_Splice_Site|LSM5_ENST00000409292.1_Splice_Site		NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	GBM - Glioblastoma multiforme(11;0.152)		5	296	-									Splice_Site	SNP	ENST00000450169.2	37		CCDS5438.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053730	0.75960	.	.	ENSG00000106355	ENST00000450169;ENST00000409909;ENST00000409292;ENST00000410044;ENST00000409782;ENST00000409952	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0656	0.64826	0.0:0.9259:0.0:0.074	.	.	.	.	.	-1	.	.	.	-	.	.	LSM5	32493431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.784000	0.75084	2.701000	0.92244	0.655000	0.94253	.		0.393	LSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215102.2		Intron	13	12	0	0	0	1	0	13	12				
ZNF630	57232	broad.mit.edu	37	X	47919053	47919053	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47919053C>T	ENST00000409324.3	-	5	1004	c.778G>A	c.(778-780)Gag>Aag	p.E260K	ZNF630_ENST00000442455.3_Missense_Mutation_p.E246K|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.E136K	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTGGGTTTCTCTCTGGCTTGA	0.378																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(406-408)Gag>Aag		zinc finger protein 630							132.0	120.0	124.0					X																	47919053		2196	4290	6486	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47919053C>T	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.778G>A	X.37:g.47919053C>T	ENSP00000386393:p.Glu260Lys					ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.E246K|ZNF630_ENST00000409324.3_Missense_Mutation_p.E260K	p.E136K			Q2M218	ZN630_HUMAN			5	1340	-			260					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.406G>A	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	12.45	1.942373	0.34283	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.41065	1.01;1.01;1.01	2.16	1.27	0.21489	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30448	0.0765	L	0.39085	1.19	0.26599	N	0.973052	B	0.21225	0.053	B	0.17722	0.019	T	0.26121	-1.0112	9	0.62326	D	0.03	.	6.3248	0.21237	0.0:0.8256:0.0:0.1744	.	260	Q2M218	ZN630_HUMAN	K	246;136;260	ENSP00000393163:E246K;ENSP00000354683:E136K;ENSP00000386393:E260K	ENSP00000354683:E136K	E	-	1	0	ZNF630	47803997	0.095000	0.21747	0.005000	0.12908	0.153000	0.21895	1.578000	0.36525	0.179000	0.19938	0.544000	0.68410	GAG		0.378	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		32	14	0	0	0	1	0	32	14				
GIMAP7	168537	broad.mit.edu	37	7	150217465	150217465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150217465G>T	ENST00000313543.4	+	2	560	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	135	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTCGCAAAGAAGAGTTGGA	0.527																																						ENST00000313543.4																			0				breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(403-405)Gaa>Taa		GTPase, IMAP family member 7							76.0	70.0	72.0					7																	150217465		2203	4300	6503	SO:0001587	stop_gained	168537						GTP binding	g.chr7:150217465G>T	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.403G>T	7.37:g.150217465G>T	ENSP00000315474:p.Glu135*						p.E135*	NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	560	+			135						Nonsense_Mutation	SNP	ENST00000313543.4	37	c.403G>T	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660254	0.96734	.	.	ENSG00000179144	ENST00000313543	.	.	.	5.09	5.09	0.68999	.	0.188486	0.44902	D	0.000408	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8816	0.63686	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000315474:E135X	E	+	1	0	GIMAP7	149848398	1.000000	0.71417	0.993000	0.49108	0.681000	0.39784	6.951000	0.75983	2.672000	0.90937	0.655000	0.94253	GAA		0.527	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		12	47	1	0	2.27111e-07	1	2.60515e-07	12	47				
SLITRK2	84631	broad.mit.edu	37	X	144906076	144906076	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144906076T>G	ENST00000370490.1	+	1	6388	c.2133T>G	c.(2131-2133)taT>taG	p.Y711*	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.Y711*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	711					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTAGCCTATTACCGAAACC	0.483																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2131-2133)taT>taG		SLIT and NTRK-like family, member 2							77.0	78.0	78.0					X																	144906076		2203	4300	6503	SO:0001587	stop_gained	84631					integral to membrane		g.chrX:144906076T>G	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2133T>G	X.37:g.144906076T>G	ENSP00000359521:p.Tyr711*					SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.Y711*	p.Y711*			Q9H156	SLIK2_HUMAN			1	6388	+	Acute lymphoblastic leukemia(192;6.56e-05)		711					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Nonsense_Mutation	SNP	ENST00000370490.1	37	c.2133T>G	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	T	59	35.459273	0.99982	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	.	.	.	5.34	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-7.2528	7.3641	0.26762	0.0:0.4245:0.0:0.5754	.	.	.	.	X	711	.	ENSP00000334374:Y711X	Y	+	3	2	SLITRK2	144713768	0.665000	0.27466	1.000000	0.80357	0.968000	0.65278	-0.157000	0.10085	0.218000	0.20820	0.417000	0.27973	TAT		0.483	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		6	189	0	0	0	1	0	6	189				
NOL10	79954	broad.mit.edu	37	2	10712246	10712246	+	Missense_Mutation	SNP	G	G	A	rs142436125		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10712246G>A	ENST00000381685.5	-	21	2123	c.2018C>T	c.(2017-2019)tCg>tTg	p.S673L	NOL10_ENST00000345985.3_Missense_Mutation_p.S623L|NOL10_ENST00000542668.1_Missense_Mutation_p.S623L|NOL10_ENST00000538384.1_Missense_Mutation_p.S647L	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	673						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTGTCCGGCCGAACGACGGAG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17736	0.001		0.0	False		,,,				2504	0.0					ENST00000345985.3																			0											c.(1867-1869)tCg>tTg		nucleolar protein 10							270.0	246.0	254.0					2																	10712246		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10712246G>A	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.2018C>T	2.37:g.10712246G>A	ENSP00000371101:p.Ser673Leu					NOL10_ENST00000542668.1_Missense_Mutation_p.S623L|NOL10_ENST00000538384.1_Missense_Mutation_p.S647L|NOL10_ENST00000381685.5_Missense_Mutation_p.S673L	p.S623L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	20	1978	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		673					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1868C>T	CCDS1673.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.0	4.080432	0.76528	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.46451	0.87;2.1;1.46;2.1	5.75	5.75	0.90469	.	0.123708	0.56097	D	0.000023	T	0.58921	0.2156	M	0.70275	2.135	0.50039	D	0.999849	D;D;D	0.63880	0.993;0.993;0.989	P;P;P	0.53490	0.632;0.632;0.727	T	0.59348	-0.7471	10	0.51188	T	0.08	-0.5579	19.9392	0.97153	0.0:0.0:1.0:0.0	.	647;673;623	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	L	623;673;623;647	ENSP00000263837:S623L;ENSP00000371101:S673L;ENSP00000437625:S623L;ENSP00000439663:S647L	ENSP00000263837:S623L	S	-	2	0	NOL10	10629697	0.985000	0.35326	0.015000	0.15790	0.640000	0.38277	6.796000	0.75145	2.713000	0.92767	0.655000	0.94253	TCG		0.483	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		53	84	0	0	0	1	0	53	84				
LONRF2	164832	broad.mit.edu	37	2	100917219	100917219	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100917219C>T	ENST00000393437.3	-	4	1591	c.952G>A	c.(952-954)Gca>Aca	p.A318T	LONRF2_ENST00000409647.1_Missense_Mutation_p.A75T	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	318							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGCACATTTGCTGTAGCTGAA	0.353																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(952-954)Gca>Aca		LON peptidase N-terminal domain and ring finger 2							78.0	71.0	73.0					2																	100917219		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100917219C>T	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.952G>A	2.37:g.100917219C>T	ENSP00000377086:p.Ala318Thr					LONRF2_ENST00000409647.1_Missense_Mutation_p.A75T	p.A318T	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			4	1591	-			318					B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.952G>A	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	2.299	-0.360736	0.05103	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.84516	-1.75;-1.86	4.2	2.37	0.29283	.	0.761654	0.11983	N	0.510529	T	0.69869	0.3159	N	0.08118	0	0.09310	N	0.999995	B	0.09022	0.002	B	0.06405	0.002	T	0.57963	-0.7720	10	0.46703	T	0.11	-1.7631	8.4461	0.32843	0.0:0.8105:0.0:0.1895	.	318	Q1L5Z9	LONF2_HUMAN	T	318;75	ENSP00000377086:A318T;ENSP00000386823:A75T	ENSP00000377086:A318T	A	-	1	0	LONRF2	100283651	1.000000	0.71417	0.021000	0.16686	0.003000	0.03518	2.253000	0.43205	0.235000	0.21160	-0.258000	0.10820	GCA		0.353	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		11	23	0	0	0	1	0	11	23				
MYLK	4638	broad.mit.edu	37	3	123383094	123383094	+	Silent	SNP	G	G	A	rs377231739		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:123383094G>A	ENST00000475616.1	-	20	3842	c.3843C>T	c.(3841-3843)agC>agT	p.S1281S	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Silent_p.S1281S|MYLK_ENST00000354792.5_Silent_p.S81S|MYLK_ENST00000360772.3_Silent_p.S1281S|MYLK_ENST00000346322.5_Silent_p.S1212S|MYLK_ENST00000359169.1_Silent_p.S1281S			Q15746	MYLK_HUMAN	myosin light chain kinase	1281	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.S1281S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCATGTGCTCGCTTTCCTGGA	0.617																																						ENST00000360772.3																			1	Substitution - coding silent(1)	p.S1281S(1)	endometrium(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3841-3843)agC>agT		myosin light chain kinase		G	,,,	2,4404	4.2+/-10.8	0,2,2201	115.0	107.0	110.0		3843,3636,3843,3636	-0.8	0.8	3		110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	1281/1915,1212/1846,1281/1864,1212/1795	123383094	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383094G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3843C>T	3.37:g.123383094G>A						MYLK_ENST00000360304.3_Silent_p.S1281S|MYLK_ENST00000475616.1_Silent_p.S1281S|MYLK_ENST00000354792.5_Silent_p.S81S|MYLK_ENST00000346322.5_Silent_p.S1212S|MYLK_ENST00000359169.1_Silent_p.S1281S	p.S1281S			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4221	-		Lung NSC(201;0.0496)	1281			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3843C>T	CCDS46896.1																																																																																				0.617	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		53	93	0	0	0	1	0	53	93				
NBEAL1	65065	broad.mit.edu	37	2	204013739	204013739	+	Missense_Mutation	SNP	G	G	A	rs370056682		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:204013739G>A	ENST00000449802.1	+	33	5576	c.5243G>A	c.(5242-5244)cGa>cAa	p.R1748Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1748										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCATTTAATCGAAAAGCACGC	0.343																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5242-5244)cGa>cAa		neurobeachin-like 1		G	GLN/ARG	0,3666		0,0,1833	80.0	74.0	76.0		5243	5.9	1.0	2		76	1,8151		0,1,4075	no	missense	NBEAL1	NM_001114132.1	43	0,1,5908	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	1748/2695	204013739	1,11817	1833	4076	5909	SO:0001583	missense	65065						binding	g.chr2:204013739G>A	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5243G>A	2.37:g.204013739G>A	ENSP00000399903:p.Arg1748Gln						p.R1748Q	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			33	5576	+			1748					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5243G>A	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802206	0.96960	0.0	1.23E-4	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.54866	0.55	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.68439	-0.5408	10	0.35671	T	0.21	.	19.8506	0.96738	0.0:0.0:1.0:0.0	.	1748;1737	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Q	1748	ENSP00000399903:R1748Q	ENSP00000344985:R1748Q	R	+	2	0	NBEAL1	203721984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.403000	0.97302	2.791000	0.96007	0.655000	0.94253	CGA		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			22	38	0	0	0	1	0	22	38				
MAGEF1	64110	broad.mit.edu	37	3	184428893	184428893	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:184428893G>T	ENST00000317897.3	-	1	943	c.717C>A	c.(715-717)ttC>ttA	p.F239L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	239	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GACCCCAAGAGAATTCATATT	0.507																																						ENST00000317897.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(715-717)ttC>ttA		melanoma antigen family F, 1							72.0	79.0	76.0					3																	184428893		2203	4300	6503	SO:0001583	missense	64110							g.chr3:184428893G>T	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.717C>A	3.37:g.184428893G>T	ENSP00000315064:p.Phe239Leu						p.F239L	NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		1	943	-	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		239			MAGE.		Q9H215	Missense_Mutation	SNP	ENST00000317897.3	37	c.717C>A	CCDS3269.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738022	0.49045	.	.	ENSG00000177383	ENST00000317897	T	0.05649	3.41	4.49	2.66	0.31614	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	L	0.32530	0.975	0.35231	D	0.77691	B	0.34241	0.444	B	0.43018	0.405	T	0.36866	-0.9730	10	0.35671	T	0.21	.	5.5287	0.16972	0.1027:0.0:0.7009:0.1964	.	239	Q9HAY2	MAGF1_HUMAN	L	239	ENSP00000315064:F239L	ENSP00000315064:F239L	F	-	3	2	MAGEF1	185911587	0.866000	0.29940	0.964000	0.40570	0.937000	0.57800	0.805000	0.27112	0.617000	0.30160	-0.188000	0.12872	TTC		0.507	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		19	45	1	0	6.94344e-10	1	8.4399e-10	19	45				
NPAS3	64067	broad.mit.edu	37	14	34269487	34269487	+	Silent	SNP	C	C	T	rs199839757		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:34269487C>T	ENST00000356141.4	+	12	1974	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	NPAS3_ENST00000551492.1_Silent_p.F663F|NPAS3_ENST00000346562.2_Silent_p.F626F|NPAS3_ENST00000548645.1_Silent_p.F628F|NPAS3_ENST00000357798.5_Silent_p.F645F			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	658					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCATCAATTTCGACAATGACA	0.617																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1876-1878)ttC>ttT		neuronal PAS domain protein 3							72.0	72.0	72.0					14																	34269487		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269487C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1974C>T	14.37:g.34269487C>T						NPAS3_ENST00000551492.1_Silent_p.F663F|NPAS3_ENST00000357798.5_Silent_p.F645F|NPAS3_ENST00000356141.4_Silent_p.F658F|NPAS3_ENST00000548645.1_Silent_p.F628F	p.F626F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	1952	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		658					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.1878C>T	CCDS53891.1																																																																																				0.617	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			17	56	0	0	0	1	0	17	56				
MIR521-2	574481	broad.mit.edu	37	19	54219879	54219879	+	RNA	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54219879T>C	ENST00000384818.1	+	0	32				RNU6-803P_ENST00000516034.1_RNA	NR_030203.1				microRNA 521-2																		AGGGAAGAATTTTCTCTTGTC	0.413																																						ENST00000384818.1																			0																				166.0	164.0	165.0					19																	54219879		1568	3582	5150			0							g.chr19:54219879T>C			19q13.42	2011-09-12		2008-12-18	ENSG00000207549	ENSG00000207549		"""ncRNAs / Micro RNAs"""	32113	non-coding RNA	RNA, micro				MIRN521-2			Standard	NR_030203		Approved	hsa-mir-521-2	uc021vag.1				19.37:g.54219879T>C								NR_030203.1						0	32	+									RNA	SNP	ENST00000384818.1	37																																																																																						0.413	MIR521-2-201	KNOWN	basic	miRNA	miRNA		NR_030203		51	119	0	0	0	1	0	51	119				
ASPN	54829	broad.mit.edu	37	9	95237107	95237107	+	Missense_Mutation	SNP	C	C	T	rs146516859		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95237107C>T	ENST00000375544.3	-	2	316	c.73G>A	c.(73-75)Gca>Aca	p.A25T	ASPN_ENST00000450139.2_5'UTR|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Missense_Mutation_p.A25T|ASPN_ENST00000375543.1_Missense_Mutation_p.A25T	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	25					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TTCTTCAGTGCGATGTGTGAA	0.423																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(73-75)Gca>Aca		asporin		C	,THR/ALA,THR/ALA	0,4406		0,0,2203	79.0	82.0	81.0		,73,73	0.0	0.0	9	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense,missense	ASPN,CENPP	NM_001012267.1,NM_001193335.1,NM_017680.4	,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,benign,benign	,25/244,25/381	95237107	2,13004	2203	4300	6503	SO:0001583	missense	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95237107C>T	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.73G>A	9.37:g.95237107C>T	ENSP00000364694:p.Ala25Thr					ASPN_ENST00000395538.3_Missense_Mutation_p.A25T|ASPN_ENST00000450139.2_5'UTR|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.A25T	p.A25T	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			2	316	-			25					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37	c.73G>A		.	.	.	.	.	.	.	.	.	.	C	1.547	-0.540323	0.04053	0.0	2.33E-4	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538	T;T;T	0.53640	0.61;0.69;0.62	5.12	8.5E-4	0.14044	.	0.599517	0.17891	N	0.158526	T	0.25827	0.0629	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.10154	-1.0642	10	0.36615	T	0.2	.	4.4306	0.11525	0.1404:0.3209:0.0:0.5387	.	25;25	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	T	25	ENSP00000364694:A25T;ENSP00000364693:A25T;ENSP00000378909:A25T	ENSP00000364693:A25T	A	-	1	0	ASPN	94276928	0.050000	0.20438	0.000000	0.03702	0.002000	0.02628	1.071000	0.30666	-0.167000	0.10871	-0.302000	0.09304	GCA		0.423	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		17	21	0	0	0	1	0	17	21				
ZNF560	147741	broad.mit.edu	37	19	9583919	9583919	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9583919T>C	ENST00000301480.4	-	5	387	c.174A>G	c.(172-174)aaA>aaG	p.K58K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	58	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGACACTGGGTTTAAAGAGCT	0.453																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(172-174)aaA>aaG		zinc finger protein 560							165.0	165.0	165.0					19																	9583919		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9583919T>C	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.174A>G	19.37:g.9583919T>C							p.K58K	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			5	387	-			58			KRAB 1.		Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.174A>G	CCDS12214.1																																																																																				0.453	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		61	75	0	0	0	1	0	61	75				
KCNA3	3738	broad.mit.edu	37	1	111216954	111216954	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216954G>T	ENST00000369769.2	-	1	701	c.478C>A	c.(478-480)Ctc>Atc	p.L160I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	160					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TAGTAGTAGAGGATGGCGTCG	0.647																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(478-480)Ctc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 3							57.0	67.0	64.0					1																	111216954		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216954G>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.478C>A	1.37:g.111216954G>T	ENSP00000358784:p.Leu160Ile						p.L160I	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	701	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	160					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.478C>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922927	0.73213	.	.	ENSG00000177272	ENST00000369769	D	0.86769	-2.17	4.67	3.74	0.42951	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.93265	0.7854	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.94508	0.7716	10	0.87932	D	0	.	13.8764	0.63655	0.0:0.0:0.8462:0.1538	.	160	P22001	KCNA3_HUMAN	I	160	ENSP00000358784:L160I	ENSP00000358784:L160I	L	-	1	0	KCNA3	111018477	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.877000	0.87225	0.941000	0.37499	0.462000	0.41574	CTC		0.647	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		53	102	1	0	1.11015e-26	1	1.57159e-26	53	102				
EFHC2	80258	broad.mit.edu	37	X	44035549	44035549	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:44035549G>T	ENST00000420999.1	-	13	2114	c.2031C>A	c.(2029-2031)tcC>tcA	p.S677S	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	677							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTGACAATAAGGATTCTAGAA	0.373																																						ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(2029-2031)tcC>tcA		EF-hand domain (C-terminal) containing 2							131.0	109.0	116.0					X																	44035549		1857	4093	5950	SO:0001819	synonymous_variant	80258						calcium ion binding	g.chrX:44035549G>T	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.2031C>A	X.37:g.44035549G>T						EFHC2_ENST00000343571.3_5'UTR	p.S677S	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			13	2114	-			677					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Silent	SNP	ENST00000420999.1	37	c.2031C>A	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	G	2.648	-0.282675	0.05642	.	.	ENSG00000183690	ENST00000441230	.	.	.	5.6	0.231	0.15377	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	0.8822	1.1485	0.01780	0.1775:0.1448:0.3765:0.3012	.	.	.	.	I	658	.	.	L	-	1	0	EFHC2	43920493	0.685000	0.27652	0.001000	0.08648	0.033000	0.12548	0.850000	0.27737	-0.020000	0.14032	-0.208000	0.12717	CTT		0.373	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		4	4	1	0	2.56e-06	1	2.86294e-06	4	4				
TG	7038	broad.mit.edu	37	8	133961050	133961050	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133961050C>T	ENST00000220616.4	+	27	5303	c.5263C>T	c.(5263-5265)Ccc>Tcc	p.P1755S	TG_ENST00000542445.1_Missense_Mutation_p.P125S|TG_ENST00000377869.1_Missense_Mutation_p.P1698S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1755					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)		GCTGAGCTCACCCAGTGTCCT	0.522																																						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.(5263-5265)Ccc>Tcc		thyroglobulin							214.0	192.0	200.0					8																	133961050		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133961050C>T	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.5263C>T	8.37:g.133961050C>T	ENSP00000220616:p.Pro1755Ser					TG_ENST00000377869.1_Missense_Mutation_p.P1698S|TG_ENST00000542445.1_Missense_Mutation_p.P125S	p.P1755S	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)	27	5303	+	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)	1755					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5263C>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.715438|2.715438	0.48622|0.48622	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.76186|.	-1.0;-1.0;-1.0|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.387514|.	0.26314|.	N|.	0.025089|.	T|T	0.76033|0.76033	0.3931|0.3931	M|M	0.78637|0.78637	2.42|2.42	0.43603|0.43603	D|D	0.995967|0.995967	D;D|.	0.69078|.	0.997;0.996|.	D;P|.	0.65443|.	0.935;0.864|.	T|T	0.76107|0.76107	-0.3080|-0.3080	10|5	0.87932|.	D|.	0|.	.|.	15.4007|15.4007	0.74838|0.74838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	125;1755|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	S|I	1698;561;1755;125|210	ENSP00000367100:P1698S;ENSP00000220616:P1755S;ENSP00000441693:P125S|.	ENSP00000220616:P1755S|.	P|T	+|+	1|2	0|0	TG|TG	134030232|134030232	0.998000|0.998000	0.40836|0.40836	0.873000|0.873000	0.34254|0.34254	0.014000|0.014000	0.08584|0.08584	3.832000|3.832000	0.55783|0.55783	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		48	77	0	0	0	1	0	48	77				
KLHL41	10324	broad.mit.edu	37	2	170377387	170377387	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170377387G>A	ENST00000284669.1	+	5	1656	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E465K|BBS5_ENST00000554017.1_Missense_Mutation_p.E465K|KLHL41_ENST00000463400.1_3'UTR	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	527					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGTAATGACCGAATTTCCCCA	0.343																																						ENST00000284669.1																			0											c.(1579-1581)Gaa>Aaa		kelch-like family member 41							122.0	108.0	113.0					2																	170377387		2203	4300	6503	SO:0001583	missense	10324							g.chr2:170377387G>A	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1579G>A	2.37:g.170377387G>A	ENSP00000284669:p.Glu527Lys					RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E465K|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.E465K	p.E527K	NM_006063.2	NP_006054.2					5	1656	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1579G>A	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894806	0.91962	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.78003	-1.14;-1.14;-1.14	5.29	5.29	0.74685	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.67517	2.055	0.80722	D	1	D;D	0.76494	0.999;0.963	D;P	0.71414	0.973;0.618	D	0.85354	0.1103	10	0.38643	T	0.18	.	19.2781	0.94040	0.0:0.0:1.0:0.0	.	465;527	E9PBE3;O60662	.;KBTBA_HUMAN	K	465;465;527	ENSP00000452313:E465K;ENSP00000424363:E465K;ENSP00000284669:E527K	ENSP00000284669:E527K	E	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170085633	1.000000	0.71417	0.947000	0.38551	0.821000	0.46438	9.414000	0.97362	2.634000	0.89283	0.591000	0.81541	GAA		0.343	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		17	37	0	0	0	1	0	17	37				
ZNF268	10795	broad.mit.edu	37	12	133779416	133779416	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133779416C>A	ENST00000536435.2	+	6	1474	c.1144C>A	c.(1144-1146)Cat>Aat	p.H382N	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.H221N|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.H382N	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	382					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|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)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCAGAAAACTCATTCAGGACA	0.388																																						ENST00000536435.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(1144-1146)Cat>Aat		zinc finger protein 268							23.0	24.0	23.0					12																	133779416		2095	4237	6332	SO:0001583	missense	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133779416C>A	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1144C>A	12.37:g.133779416C>A	ENSP00000444412:p.His382Asn					ZNF268_ENST00000228289.5_Missense_Mutation_p.H382N|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.H221N	p.H382N	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	1474	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	382					Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	c.1144C>A	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699093	0.88830	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.67345	-0.26;-0.26	4.66	3.77	0.43336	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84857	0.5565	M	0.93283	3.4	0.31115	N	0.709556	D;D	0.76494	0.999;0.998	D;D	0.72625	0.978;0.963	D	0.85550	0.1221	8	.	.	.	.	11.9893	0.53166	0.0:0.9134:0.0:0.0866	.	382;221	Q14587;Q14587-2	ZN268_HUMAN;.	N	382;382;221;221	ENSP00000228289:H382N;ENSP00000445713:H221N	.	H	+	1	0	ZNF268	132289489	0.946000	0.32159	0.018000	0.16275	0.749000	0.42624	1.914000	0.39966	1.173000	0.42796	0.655000	0.94253	CAT		0.388	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		5	11	1	0	0.184627	1	0.185817	5	11				
CSF2RA	1438	broad.mit.edu	37	X	1428454	1428454	+	3'UTR	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1428454T>A	ENST00000381524.3	+	0	1471				CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.L369H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCTGTGAACCTTTATATCATT	0.502																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000355432.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(1105-1107)cTt>cAt		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						201.0	186.0	191.0					X																	1428454		2203	4296	6499	SO:0001624	3_prime_UTR_variant	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1428454T>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.*82T>A	X.37:g.1428454T>A						CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR	p.L369H	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN			11	1255	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	0					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.1106T>A	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	9.788	1.177160	0.21787	.	.	ENSG00000198223	ENST00000355432	T	0.50277	0.75	0.561	0.561	0.17285	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.46758	0.526	T	0.34279	-0.9835	7	0.87932	D	0	.	.	.	.	.	370	P15509-5	.	H	369	ENSP00000347606:L369H	ENSP00000347606:L369H	L	+	2	0	CSF2RA	1388454	0.002000	0.14202	0.005000	0.12908	0.078000	0.17371	0.063000	0.14410	0.482000	0.27582	0.093000	0.15507	CTT		0.502	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			17	114	0	0	0	1	0	17	114				
SYNPO2	171024	broad.mit.edu	37	4	119952573	119952573	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:119952573G>A	ENST00000429713.2	+	4	2825	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Silent_p.S881S|SYNPO2_ENST00000434046.2_Silent_p.S881S	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	881						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAAGGCAGTCGAGAATGGAGA	0.552																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2641-2643)tcG>tcA		synaptopodin 2							127.0	122.0	124.0					4																	119952573		2203	4300	6503	SO:0001819	synonymous_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952573G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2643G>A	4.37:g.119952573G>A						SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.S881S|SYNPO2_ENST00000434046.2_Silent_p.S881S	p.S881S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	2839	+			881					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	c.2643G>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	G	4.612	0.113661	0.08831	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.76	-7.66	0.01277	.	.	.	.	.	T	0.34424	0.0897	.	.	.	0.50632	D	0.999886	.	.	.	.	.	.	T	0.40572	-0.9556	4	.	.	.	-12.6685	1.6633	0.02796	0.3214:0.3289:0.149:0.2007	.	.	.	.	K	833	.	.	E	+	1	0	SYNPO2	120172021	0.000000	0.05858	0.497000	0.27552	0.930000	0.56654	-2.067000	0.01383	-1.288000	0.02378	-0.792000	0.03331	GAG		0.552	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			39	78	0	0	0	1	0	39	78				
EIF2AK2	5610	broad.mit.edu	37	2	37374085	37374085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37374085C>A	ENST00000233057.4	-	4	473	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.E51*|EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.E51*	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	51	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TCTGGAAATTCTCTTCCATCT	0.323																																						ENST00000233057.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(151-153)Gaa>Taa		eukaryotic translation initiation factor 2-alpha kinase 2							101.0	94.0	97.0					2																	37374085		2203	4299	6502	SO:0001587	stop_gained	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37374085C>A	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.151G>T	2.37:g.37374085C>A	ENSP00000233057:p.Glu51*					EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.E51*|EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.E51*	p.E51*	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			4	473	-		all_hematologic(82;0.248)	51			DRBM 1.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Nonsense_Mutation	SNP	ENST00000233057.4	37	c.151G>T	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829257	0.71258	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537;ENST00000390013	.	.	.	5.54	1.81	0.25067	.	0.543653	0.17851	N	0.159877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-11.6349	7.4764	0.27378	0.0:0.657:0.0:0.343	.	.	.	.	X	51	.	ENSP00000233057:E51X	E	-	1	0	EIF2AK2	37227589	0.001000	0.12720	0.022000	0.16811	0.003000	0.03518	-0.741000	0.04855	0.058000	0.16222	-0.127000	0.14921	GAA		0.323	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		6	18	1	0	0.217242	1	0.218251	6	18				
TRIML1	339976	broad.mit.edu	37	4	189061694	189061694	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:189061694G>A	ENST00000332517.3	+	2	561	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	141					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAAACTCCAGGAAATCCTGAA	0.493																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(421-423)Gaa>Aaa		tripartite motif family-like 1							134.0	127.0	130.0					4																	189061694		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189061694G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.421G>A	4.37:g.189061694G>A	ENSP00000327738:p.Glu141Lys						p.E141K	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	2	561	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	141					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.421G>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	9.185	1.024586	0.19433	.	.	ENSG00000184108	ENST00000332517	T	0.61040	0.14	4.74	3.9	0.45041	.	0.569327	0.15915	N	0.238424	T	0.36138	0.0956	N	0.20304	0.555	0.20703	N	0.999861	B	0.16603	0.018	B	0.15870	0.014	T	0.19031	-1.0318	10	0.06494	T	0.89	-11.8991	9.5062	0.39048	0.1003:0.0:0.8997:0.0	.	141	Q8N9V2	TRIML_HUMAN	K	141	ENSP00000327738:E141K	ENSP00000327738:E141K	E	+	1	0	TRIML1	189298688	0.983000	0.35010	0.049000	0.19019	0.001000	0.01503	1.948000	0.40303	1.315000	0.45114	-0.136000	0.14681	GAA		0.493	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		17	35	0	0	0	1	0	17	35				
ZNF630	57232	broad.mit.edu	37	X	47918899	47918899	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47918899C>A	ENST00000409324.3	-	5	1158	c.932G>T	c.(931-933)aGg>aTg	p.R311M	ZNF630_ENST00000442455.3_Missense_Mutation_p.R297M|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.R187M	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGTATGAATCCTCTGATGCAC	0.418																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(559-561)aGg>aTg		zinc finger protein 630							67.0	60.0	62.0					X																	47918899		2196	4290	6486	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918899C>A	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.932G>T	X.37:g.47918899C>A	ENSP00000386393:p.Arg311Met					ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.R297M|ZNF630_ENST00000409324.3_Missense_Mutation_p.R311M	p.R187M			Q2M218	ZN630_HUMAN			5	1494	-			311					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.560G>T	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	7.094	0.572672	0.13623	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.25579	1.79;1.79;1.79	2.16	0.0211	0.14127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22898	0.0553	M	0.83953	2.67	0.09310	N	0.999999	P	0.37466	0.596	B	0.28849	0.095	T	0.32214	-0.9915	9	0.72032	D	0.01	.	0.8931	0.01258	0.2316:0.3801:0.2271:0.1612	.	311	Q2M218	ZN630_HUMAN	M	297;187;311	ENSP00000393163:R297M;ENSP00000354683:R187M;ENSP00000386393:R311M	ENSP00000354683:R187M	R	-	2	0	ZNF630	47803843	0.000000	0.05858	0.008000	0.14137	0.013000	0.08279	-0.323000	0.07997	-0.231000	0.09825	-0.236000	0.12185	AGG		0.418	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		23	12	1	0	3.62473e-10	1	4.42315e-10	23	12				
ZBBX	79740	broad.mit.edu	37	3	166958694	166958694	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:166958694C>A	ENST00000392766.2	-	21	2630	c.2290G>T	c.(2290-2292)Gat>Tat	p.D764Y	ZBBX_ENST00000392767.2_Missense_Mutation_p.D764Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D803Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.D803Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D735Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	764						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D803N(1)|p.D764N(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTGGTATCTCTTCCAGAA	0.383																																						ENST00000392766.2																			2	Substitution - Missense(2)	p.D803N(1)|p.D764N(1)	lung(2)	NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2290-2292)Gat>Tat		zinc finger, B-box domain containing							130.0	119.0	122.0					3																	166958694		1902	4125	6027	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:166958694C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2290G>T	3.37:g.166958694C>A	ENSP00000376519:p.Asp764Tyr					ZBBX_ENST00000455345.2_Missense_Mutation_p.D803Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D764Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D803Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D735Y	p.D764Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			21	2630	-			764					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.2290G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923904	0.34002	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.21	3.35	0.38373	.	0.365259	0.23342	N	0.049226	T	0.38108	0.1028	L	0.40543	1.245	0.26129	N	0.980446	P;P	0.37330	0.492;0.59	B;B	0.33846	0.171;0.118	T	0.36817	-0.9732	10	0.87932	D	0	-6.8792	5.8984	0.18951	0.1896:0.712:0.0:0.0983	.	803;764	A8MT70-2;A8MT70	.;ZBBX_HUMAN	Y	764;764;803;803;735	ENSP00000376519:D764Y;ENSP00000376520:D764Y;ENSP00000390232:D803Y;ENSP00000305065:D803Y;ENSP00000376517:D735Y	ENSP00000305065:D803Y	D	-	1	0	ZBBX	168441388	1.000000	0.71417	0.987000	0.45799	0.255000	0.26057	1.129000	0.31381	0.831000	0.34780	0.557000	0.71058	GAT		0.383	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		18	39	1	0	4.35082e-09	1	5.20082e-09	18	39				
PKD2L2	27039	broad.mit.edu	37	5	137235410	137235410	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137235410C>A	ENST00000508883.1	+	5	756	c.730C>A	c.(730-732)Cta>Ata	p.L244I	PKD2L2_ENST00000508638.1_Missense_Mutation_p.L244I|PKD2L2_ENST00000502810.1_Missense_Mutation_p.L244I|PKD2L2_ENST00000290431.5_Missense_Mutation_p.L244I|PKD2L2_ENST00000350250.4_Missense_Mutation_p.L210I			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	244					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAATGTAAATCTATTTTGTAT	0.338																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(730-732)Cta>Ata		polycystic kidney disease 2-like 2							45.0	46.0	46.0					5																	137235410		1820	4066	5886	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137235410C>A	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.730C>A	5.37:g.137235410C>A	ENSP00000424725:p.Leu244Ile					PKD2L2_ENST00000508883.1_Missense_Mutation_p.L244I|PKD2L2_ENST00000350250.4_Missense_Mutation_p.L210I|PKD2L2_ENST00000290431.5_Missense_Mutation_p.L244I|PKD2L2_ENST00000502810.1_Missense_Mutation_p.L244I	p.L244I	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	785	+			244					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.730C>A		.	.	.	.	.	.	.	.	.	.	C	18.65	3.668610	0.67814	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.51	3.73	0.42828	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.48286	D	0.000199	T	0.82107	0.4965	L	0.39514	1.22	0.37449	D	0.914739	D;D;D	0.89917	0.975;0.999;1.0	D;D;D	0.87578	0.951;0.998;0.996	D	0.84634	0.0691	10	0.87932	D	0	-4.6545	11.6893	0.51505	0.0:0.8554:0.0:0.1446	.	244;244;244	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	I	154;210;244;244;244;244	ENSP00000424885:L154I;ENSP00000344177:L210I;ENSP00000423382:L244I;ENSP00000425513:L244I;ENSP00000424725:L244I;ENSP00000290431:L244I	ENSP00000290431:L244I	L	+	1	2	PKD2L2	137263309	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	1.170000	0.31883	0.797000	0.33971	0.655000	0.94253	CTA		0.338	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		14	10	1	0	4.36969e-10	1	5.32873e-10	14	10				
IGF1R	3480	broad.mit.edu	37	15	99500656	99500656	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:99500656G>A	ENST00000268035.6	+	21	4700	c.4089G>A	c.(4087-4089)caG>caA	p.Q1363Q	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Silent_p.Q1362Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1363					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CGCTGCCCCAGTCTTCGACCT	0.622																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4087-4089)caG>caA		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						32.0	35.0	34.0					15																	99500656		2181	4271	6452	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99500656G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.4089G>A	15.37:g.99500656G>A						IGF1R_ENST00000558762.1_Silent_p.Q1362Q|RP11-654A16.3_ENST00000559468.1_RNA	p.Q1363Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		21	4700	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1363					B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.4089G>A	CCDS10378.1																																																																																				0.622	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		23	41	0	0	0	1	0	23	41				
JAK3	3718	broad.mit.edu	37	19	17948837	17948837	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17948837A>C	ENST00000527670.1	-	11	1634	c.1605T>G	c.(1603-1605)atT>atG	p.I535M	JAK3_ENST00000534444.1_Missense_Mutation_p.I535M|JAK3_ENST00000458235.1_Missense_Mutation_p.I535M|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	535	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGCCCCGGTAAATCTTGGTGA	0.592		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1603-1605)atT>atG		Janus kinase 3							114.0	110.0	111.0					19																	17948837		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17948837A>C	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1605T>G	19.37:g.17948837A>C	ENSP00000432511:p.Ile535Met					JAK3_ENST00000534444.1_Missense_Mutation_p.I535M|JAK3_ENST00000527670.1_Missense_Mutation_p.I535M	p.I535M	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			12	1704	-			535			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1605T>G	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384062	0.61845	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.63744	-0.06;-0.06;-0.06	4.93	-3.09	0.05331	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.128993	0.49916	D	0.000132	T	0.75874	0.3909	M	0.87547	2.89	0.42859	D	0.994105	D;D	0.89917	1.0;0.996	D;D	0.80764	0.994;0.98	T	0.75880	-0.3161	10	0.87932	D	0	-16.9066	9.6225	0.39730	0.1912:0.0:0.6619:0.1469	.	535;535	P52333-2;P52333	.;JAK3_HUMAN	M	535	ENSP00000391676:I535M;ENSP00000432511:I535M;ENSP00000436421:I535M	ENSP00000413248:I535M	I	-	3	3	JAK3	17809837	0.307000	0.24500	0.985000	0.45067	0.785000	0.44390	-0.259000	0.08721	-0.581000	0.05937	0.260000	0.18958	ATT		0.592	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		4	167	0	0	0	1	0	4	167				
ZNF445	353274	broad.mit.edu	37	3	44489458	44489458	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44489458G>T	ENST00000396077.2	-	8	2052	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	ZNF445_ENST00000425708.2_Missense_Mutation_p.L569I	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	569					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCAATTCAAGAAATTTCTTC	0.468																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(1705-1707)Ctt>Att		zinc finger protein 445							95.0	98.0	97.0					3																	44489458		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44489458G>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1705C>A	3.37:g.44489458G>T	ENSP00000379387:p.Leu569Ile					ZNF445_ENST00000396077.2_Missense_Mutation_p.L569I	p.L569I			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2046	-			569					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.1705C>A	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	8.360	0.832988	0.16820	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.60920	0.15;0.15	3.04	1.06	0.20224	.	0.432539	0.17224	N	0.182220	T	0.40272	0.1110	N	0.25485	0.75	0.09310	N	1	B;B	0.31256	0.139;0.316	B;B	0.25405	0.016;0.06	T	0.31138	-0.9954	10	0.72032	D	0.01	.	10.5317	0.44981	0.0:0.3778:0.6222:0.0	.	557;569	B7ZKX2;P59923	.;ZN445_HUMAN	I	569	ENSP00000413073:L569I;ENSP00000379387:L569I	ENSP00000379387:L569I	L	-	1	0	ZNF445	44464462	0.002000	0.14202	0.001000	0.08648	0.925000	0.55904	1.527000	0.35975	0.269000	0.21961	0.591000	0.81541	CTT		0.468	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		32	65	1	0	1.62565e-12	1	2.05093e-12	32	65				
TENM3	55714	broad.mit.edu	37	4	183714933	183714933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:183714933G>T	ENST00000511685.1	+	26	7231	c.7108G>T	c.(7108-7110)Gaa>Taa	p.E2370*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.E2370*			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2370					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACCTGACATAGAAATCTGGAA	0.413																																						ENST00000511685.1																			0											c.(7108-7110)Gaa>Taa		teneurin transmembrane protein 3							82.0	78.0	79.0					4																	183714933		1838	4081	5919	SO:0001587	stop_gained	55714							g.chr4:183714933G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7108G>T	4.37:g.183714933G>T	ENSP00000424226:p.Glu2370*					TENM3_ENST00000406950.2_Nonsense_Mutation_p.E2370*	p.E2370*							26	7231	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	c.7108G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	47	13.308793	0.99733	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.5759	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	X	2370	.	ENSP00000385276:E2370X	E	+	1	0	ODZ3	183951927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.021000	0.64072	2.683000	0.91414	0.655000	0.94253	GAA		0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			15	45	1	0	3.41278e-10	1	4.16994e-10	15	45				
ARHGEF5	7984	broad.mit.edu	37	7	144075919	144075919	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:144075919G>T	ENST00000056217.5	+	14	4770	c.4596G>T	c.(4594-4596)gaG>gaT	p.E1532D	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E454D	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1532	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGGCACTGGAGAAAGCCGACG	0.577																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4594-4596)gaG>gaT		Rho guanine nucleotide exchange factor (GEF) 5							202.0	175.0	184.0					7																	144075919		2203	4300	6503	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144075919G>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4596G>T	7.37:g.144075919G>T	ENSP00000056217:p.Glu1532Asp					ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E454D	p.E1532D	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			14	4770	+	Melanoma(164;0.14)		1532			SH3.		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.4596G>T	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.717873|2.717873	0.48622|0.48622	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847|ENST00000474817	T;T|.	0.46819|.	0.86;0.86|.	5.91|5.91	3.05|3.05	0.35203|0.35203	Src homology-3 domain (4);|.	0.111830|.	0.64402|.	D|.	0.000015|.	T|T	0.57315|0.57315	0.2045|0.2045	L|L	0.49256|0.49256	1.55|1.55	0.51233|0.51233	D|D	0.999918|0.999918	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.66056|.	D|.	0.02|.	-19.9547|-19.9547	9.6823|9.6823	0.40078|0.40078	0.2169:0.0:0.7831:0.0|0.2169:0.0:0.7831:0.0	.|.	333;1532|.	B3KQX6;Q12774|.	.;ARHG5_HUMAN|.	D|I	1532;333;454|732	ENSP00000056217:E1532D;ENSP00000418227:E454D|.	ENSP00000056217:E1532D|.	E|R	+|+	3|2	2|0	ARHGEF5|ARHGEF5	143706852|143706852	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.198000|0.198000	0.23893|0.23893	3.337000|3.337000	0.52120|0.52120	0.363000|0.363000	0.24346|0.24346	-0.302000|-0.302000	0.09304|0.09304	GAG|AGA		0.577	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		67	138	1	0	1.05635e-38	1	1.52265e-38	67	138				
KIF3B	9371	broad.mit.edu	37	20	30898040	30898040	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30898040G>T	ENST00000375712.3	+	2	627	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	154	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGATCCGAGATTTGCTCTC	0.458																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(460-462)Gat>Tat		kinesin family member 3B							64.0	61.0	62.0					20																	30898040		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898040G>T	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.460G>T	20.37:g.30898040G>T	ENSP00000364864:p.Asp154Tyr						p.D154Y	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	627	+			154			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.460G>T	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088950	0.76756	.	.	ENSG00000101350	ENST00000375712	D	0.89270	-2.49	5.31	5.31	0.75309	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	H	0.99955	5.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99331	1.0909	10	0.87932	D	0	.	19.1734	0.93590	0.0:0.0:1.0:0.0	.	154;154	B4DYF2;O15066	.;KIF3B_HUMAN	Y	154	ENSP00000364864:D154Y	ENSP00000364864:D154Y	D	+	1	0	KIF3B	30361701	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	9.657000	0.98554	2.767000	0.95098	0.561000	0.74099	GAT		0.458	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		10	44	1	0	2.17888e-05	1	2.39107e-05	10	44				
LPCAT3	10162	broad.mit.edu	37	12	7084399	7084399	+	IGR	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7084399G>T	ENST00000261407.4	-	0	2268				EMG1_ENST00000546220.1_3'UTR|EMG1_ENST00000261406.6_Missense_Mutation_p.K159N|LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGGTAATTAAGAATCCAGTAT	0.433																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase							90.0	85.0	86.0					12																	7084399		1897	4116	6013	SO:0001628	intergenic_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7084399G>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7084399G>T						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	510	+								B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	RNA	SNP	ENST00000261407.4	37		CCDS8572.1																																																																																				0.433	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		3	21	1	0	0.004672	1	0.00483628	3	21				
MAST1	22983	broad.mit.edu	37	19	12981886	12981886	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12981886G>A	ENST00000251472.4	+	24	3202	c.3163G>A	c.(3163-3165)Gaa>Aaa	p.E1055K	AC020934.1_ENST00000578125.1_RNA	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AACGCCCTTCGAAAATACCTC	0.607																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(3163-3165)Gaa>Aaa		microtubule associated serine/threonine kinase 1							93.0	93.0	93.0					19																	12981886		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12981886G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.3163G>A	19.37:g.12981886G>A	ENSP00000251472:p.Glu1055Lys						p.E1055K	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			24	3202	+			1055			PDZ.			Missense_Mutation	SNP	ENST00000251472.4	37	c.3163G>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427881	0.96131	.	.	ENSG00000105613	ENST00000251472	T	0.42131	0.98	4.85	4.85	0.62838	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	L	0.55481	1.735	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.63567	-0.6608	10	0.87932	D	0	-17.6608	15.4466	0.75235	0.0:0.0:1.0:0.0	.	1055	Q9Y2H9	MAST1_HUMAN	K	1055	ENSP00000251472:E1055K	ENSP00000251472:E1055K	E	+	1	0	MAST1	12842886	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.869000	0.99810	2.227000	0.72691	0.462000	0.41574	GAA		0.607	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		19	156	0	0	0	1	0	19	156				
PLCD4	84812	broad.mit.edu	37	2	219487377	219487377	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219487377A>G	ENST00000450993.2	+	6	887	c.548A>G	c.(547-549)gAc>gGc	p.D183G	PLCD4_ENST00000432688.1_Missense_Mutation_p.D183G|PLCD4_ENST00000417849.1_Missense_Mutation_p.D183G|U3_ENST00000516996.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	183	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGGCAGCAGACACGTCCCAG	0.373																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(547-549)gAc>gGc		phospholipase C, delta 4							50.0	48.0	48.0					2																	219487377		1861	4096	5957	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219487377A>G	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.548A>G	2.37:g.219487377A>G	ENSP00000388631:p.Asp183Gly					PLCD4_ENST00000417849.1_Missense_Mutation_p.D183G|PLCD4_ENST00000432688.1_Missense_Mutation_p.D183G	p.D183G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	887	+		Renal(207;0.0915)	183			EF-hand 2.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.548A>G	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.209778	0.79240	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	D;D;D	0.92149	-2.98;-2.98;-2.98	4.66	4.66	0.58398	EF-hand-like domain (1);	0.147165	0.64402	D	0.000015	D	0.96275	0.8785	M	0.89287	3.02	0.58432	D	0.999996	D;D	0.67145	0.996;0.984	D;P	0.73380	0.98;0.813	D	0.96930	0.9680	10	0.72032	D	0.01	.	13.9352	0.64021	1.0:0.0:0.0:0.0	.	183;183	B7Z5V4;Q9BRC7	.;PLCD4_HUMAN	G	183	ENSP00000388631:D183G;ENSP00000396942:D183G;ENSP00000396185:D183G	ENSP00000251959:D183G	D	+	2	0	PLCD4	219195621	1.000000	0.71417	0.903000	0.35520	0.803000	0.45373	8.550000	0.90675	1.965000	0.57142	0.533000	0.62120	GAC		0.373	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			9	26	0	0	0	1	0	9	26				
MTAP	4507	broad.mit.edu	37	9	21815500	21815500	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21815500G>A	ENST00000460874.2	+	2	378	c.153G>A	c.(151-153)gtG>gtA	p.V51V	MTAP_ENST00000580900.1_Silent_p.V34V|MTAP_ENST00000380172.4_Silent_p.V34V|MTAP_ENST00000427788.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Silent_p.V34V					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		AAAAATATGTGGATACTCCAT	0.323																																						ENST00000380172.4																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10						c.(100-102)gtG>gtA		methylthioadenosine phosphorylase	Adenine(DB00173)						71.0	75.0	73.0					9																	21815500		2203	4300	6503	SO:0001819	synonymous_variant	4507				nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	g.chr9:21815500G>A	AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"""S-methyl-5'-thioadenosine phosphorylase"""	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.153G>A	9.37:g.21815500G>A						MTAP_ENST00000580900.1_Silent_p.V34V|MTAP_ENST00000460874.2_Silent_p.V51V|RP11-145E5.5_ENST00000404796.2_Silent_p.V34V|MTAP_ENST00000427788.2_3'UTR	p.V34V	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	2	308	+		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)	34						Silent	SNP	ENST00000460874.2	37	c.102G>A																																																																																					0.323	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		13	22	0	0	0	1	0	13	22				
ZNF33A	7581	broad.mit.edu	37	10	38344819	38344819	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38344819C>A	ENST00000458705.2	+	5	1922	c.1764C>A	c.(1762-1764)atC>atA	p.I588I	ZNF33A_ENST00000307441.9_Silent_p.I588I|ZNF33A_ENST00000432900.2_Silent_p.I595I|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Silent_p.I589I			Q06730	ZN33A_HUMAN	zinc finger protein 33A	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTGGAAAAATCTTTTACAATA	0.378																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1765-1767)atC>atA		zinc finger protein 33A							76.0	76.0	76.0					10																	38344819		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344819C>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1764C>A	10.37:g.38344819C>A						ZNF33A_ENST00000432900.2_Silent_p.I595I|ZNF33A_ENST00000307441.9_Silent_p.I588I|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.I588I	p.I589I	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	1945	+			588					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.1767C>A	CCDS31182.1																																																																																				0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		26	60	1	0	1.42536e-11	1	1.77514e-11	26	60				
NRAP	4892	broad.mit.edu	37	10	115413816	115413816	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115413816A>G	ENST00000359988.3	-	5	673	c.429T>C	c.(427-429)atT>atC	p.I143I	NRAP_ENST00000360478.3_Silent_p.I143I|NRAP_ENST00000369358.4_Silent_p.I143I|NRAP_ENST00000369360.3_Silent_p.I143I	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCATCCTTACAATTTCGGGGT	0.453																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(427-429)atT>atC		nebulin-related anchoring protein							223.0	227.0	226.0					10																	115413816		2203	4300	6503	SO:0001819	synonymous_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115413816A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.429T>C	10.37:g.115413816A>G						NRAP_ENST00000360478.3_Silent_p.I143I|NRAP_ENST00000369360.3_Silent_p.I143I|NRAP_ENST00000359988.3_Silent_p.I143I	p.I143I			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	5	673	-		Colorectal(252;0.0233)|Breast(234;0.188)	143						Silent	SNP	ENST00000359988.3	37	c.429T>C	CCDS7579.1																																																																																				0.453	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		79	139	0	0	0	1	0	79	139				
STAC3	246329	broad.mit.edu	37	12	57642498	57642498	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57642498G>A	ENST00000332782.2	-	4	624	c.423C>T	c.(421-423)ttC>ttT	p.F141F	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Silent_p.F102F	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	141					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CGATCTTGCCGAAGCATCTCT	0.542																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(421-423)ttC>ttT		SH3 and cysteine rich domain 3							545.0	486.0	506.0					12																	57642498		2203	4300	6503	SO:0001819	synonymous_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642498G>A	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.423C>T	12.37:g.57642498G>A						STAC3_ENST00000554578.1_Silent_p.F102F|STAC3_ENST00000546246.2_Intron	p.F141F	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			4	624	-			141					B4DUK9|Q96HU5	Silent	SNP	ENST00000332782.2	37	c.423C>T	CCDS8936.1																																																																																				0.542	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		192	364	0	0	0	1	0	192	364				
KCNC2	3747	broad.mit.edu	37	12	75444659	75444659	+	Nonsense_Mutation	SNP	G	G	A	rs200951837		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:75444659G>A	ENST00000549446.1	-	3	1806	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	KCNC2_ENST00000350228.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.R376*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.R376*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	376					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R376*(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GTACTAGCTCGAAGAGTATGT	0.453																																						ENST00000549446.1																			2	Substitution - Nonsense(2)	p.R376*(2)	large_intestine(2)	breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1126-1128)Cga>Tga		potassium voltage-gated channel, Shaw-related subfamily, member 2							53.0	50.0	51.0					12																	75444659		2203	4300	6503	SO:0001587	stop_gained	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444659G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1126C>T	12.37:g.75444659G>A	ENSP00000449253:p.Arg376*					KCNC2_ENST00000550433.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.R376*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000350228.2_Nonsense_Mutation_p.R376*	p.R376*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			3	1806	-			376					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Nonsense_Mutation	SNP	ENST00000549446.1	37	c.1126C>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	42	9.583643	0.99211	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	.	.	.	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8785	0.86058	0.0:0.0:0.8713:0.1287	.	.	.	.	X	376	.	ENSP00000298972:R376X	R	-	1	2	KCNC2	73730926	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.969000	0.56816	2.880000	0.98712	0.650000	0.86243	CGA		0.453	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		8	48	0	0	0	1	0	8	48				
RPL38	6169	broad.mit.edu	37	17	72205359	72205359	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72205359A>C	ENST00000311111.6	+	4	229	c.98A>C	c.(97-99)aAg>aCg	p.K33T	RPL38_ENST00000584577.1_Missense_Mutation_p.K33T|RPL38_ENST00000533498.1_Missense_Mutation_p.K33T|CTD-2514K5.2_ENST00000532794.1_RNA|RPL38_ENST00000439590.2_Missense_Mutation_p.K33T|RPL38_ENST00000534490.1_Missense_Mutation_p.K33T|CTD-2514K5.2_ENST00000499670.2_RNA			P63173	RL38_HUMAN	ribosomal protein L38	33					90S preribosome assembly (GO:0034463)|axial mesoderm development (GO:0048318)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|middle ear morphogenesis (GO:0042474)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ossification (GO:0001503)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|eukaryotic 80S initiation complex (GO:0033291)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|pancreas(1)	2						GACAACGTGAAGTTTAAAGTT	0.458																																						ENST00000311111.6																			0				large_intestine(1)|pancreas(1)	2						c.(97-99)aAg>aCg		ribosomal protein L38							127.0	121.0	123.0					17																	72205359		2203	4300	6503	SO:0001583	missense	6169				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr17:72205359A>C	AB007185	CCDS11696.1	17q25.1	2013-06-19			ENSG00000172809	ENSG00000172809		"""L ribosomal proteins"""	10349	protein-coding gene	gene with protein product		604182				9582194	Standard	NM_000999		Approved	L38	uc002jka.3	P63173	OTTHUMG00000166016	ENST00000311111.6:c.98A>C	17.37:g.72205359A>C	ENSP00000309830:p.Lys33Thr					RPL38_ENST00000533498.1_Missense_Mutation_p.K33T|RPL38_ENST00000584577.1_Missense_Mutation_p.K33T|RPL38_ENST00000534490.1_Missense_Mutation_p.K33T|RPL38_ENST00000439590.2_Missense_Mutation_p.K33T	p.K33T			P63173	RL38_HUMAN			4	229	+			33					B2R5A8|P23411	Missense_Mutation	SNP	ENST00000311111.6	37	c.98A>C	CCDS11696.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596502	0.86953	.	.	ENSG00000172809	ENST00000439590;ENST00000311111;ENST00000533498	.	.	.	5.27	5.27	0.74061	.	0.048222	0.85682	D	0.000000	T	0.78227	0.4250	.	.	.	0.80722	D	1	D	0.63046	0.992	D	0.66084	0.941	T	0.81671	-0.0827	8	0.87932	D	0	-5.0542	14.867	0.70425	1.0:0.0:0.0:0.0	.	33	P63173	RL38_HUMAN	T	33	.	ENSP00000309830:K33T	K	+	2	0	RPL38	69716954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.364000	0.90105	1.991000	0.58162	0.533000	0.62120	AAG		0.458	RPL38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387450.2	NM_000999		9	107	0	0	0	1	0	9	107				
GPRASP2	114928	broad.mit.edu	37	X	101970234	101970234	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101970234C>T	ENST00000535209.1	+	4	1268	c.437C>T	c.(436-438)tCc>tTc	p.S146F	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S146F|GPRASP2_ENST00000543253.1_Missense_Mutation_p.S146F			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	146						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAGGAGTGTCCCAGACTAAT	0.532																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(436-438)tCc>tTc		G protein-coupled receptor associated sorting protein 2							105.0	102.0	103.0					X																	101970234		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101970234C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.437C>T	X.37:g.101970234C>T	ENSP00000437394:p.Ser146Phe					GPRASP2_ENST00000535209.1_Missense_Mutation_p.S146F|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S146F	p.S146F	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	1356	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.437C>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	4.987	0.183371	0.09495	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08720	3.06;3.06;3.06	4.62	2.81	0.32909	.	1.497210	0.04076	N	0.308885	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	1	B	0.33379	0.41	B	0.35510	0.204	T	0.33059	-0.9883	10	0.56958	D	0.05	.	2.9842	0.05963	0.2349:0.5565:0.0:0.2086	.	146	Q96D09	GASP2_HUMAN	F	146	ENSP00000437872:S146F;ENSP00000437394:S146F;ENSP00000339057:S146F	ENSP00000339057:S146F	S	+	2	0	GPRASP2	101856890	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	1.367000	0.34204	1.016000	0.39470	0.529000	0.55759	TCC		0.532	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		93	156	0	0	0	1	0	93	156				
MEP1B	4225	broad.mit.edu	37	18	29772619	29772619	+	Silent	SNP	C	C	T	rs201628805		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29772619C>T	ENST00000269202.6	+	3	140	c.93C>T	c.(91-93)ggC>ggT	p.G31G	MEP1B_ENST00000581447.1_Silent_p.G31G	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	31					digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGTAGATGGCGGAATGGACC	0.284																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(91-93)ggC>ggT		meprin A, beta		C		1,3621		0,1,1810	195.0	185.0	188.0		93	1.3	1.0	18		188	0,8142		0,0,4071	no	coding-synonymous	MEP1B	NM_005925.2		0,1,5881	TT,TC,CC		0.0,0.0276,0.0085		31/702	29772619	1,11763	1811	4071	5882	SO:0001819	synonymous_variant	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29772619C>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.93C>T	18.37:g.29772619C>T						MEP1B_ENST00000581447.1_Silent_p.G31G	p.G31G	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN			3	140	+			31					B7ZM35|B9EGL6|Q670J1	Silent	SNP	ENST00000269202.6	37	c.93C>T	CCDS45846.1																																																																																				0.284	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		39	74	0	0	0	1	0	39	74				
FAM63A	55793	broad.mit.edu	37	1	150973025	150973025	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150973025T>C	ENST00000361936.5	-	6	1597	c.643A>G	c.(643-645)Aca>Gca	p.T215A	FAM63A_ENST00000361738.6_Missense_Mutation_p.T263A|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Missense_Mutation_p.T73A|FAM63A_ENST00000493834.2_Missense_Mutation_p.T120A	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	215						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGACGCCTGTGAATCGCACA	0.483																																						ENST00000361936.5																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(643-645)Aca>Gca		family with sequence similarity 63, member A							120.0	115.0	116.0					1																	150973025		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150973025T>C	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.643A>G	1.37:g.150973025T>C	ENSP00000354814:p.Thr215Ala					FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Missense_Mutation_p.T73A|FAM63A_ENST00000493834.2_Missense_Mutation_p.T120A|FAM63A_ENST00000361738.6_Missense_Mutation_p.T263A	p.T215A	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	1597	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		215					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.643A>G	CCDS976.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632789	0.87660	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.50001	0.79;0.8;0.76;0.85	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.70787	2.145	0.58432	D	0.999999	B;D	0.63880	0.34;0.993	B;D	0.71656	0.34;0.974	T	0.57010	-0.7884	10	0.38643	T	0.18	-10.4338	12.3127	0.54938	0.0:0.0:0.0:1.0	.	263;215	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	A	73;215;263;120	ENSP00000310923:T73A;ENSP00000354814:T215A;ENSP00000354669:T263A;ENSP00000437174:T120A	ENSP00000310923:T73A	T	-	1	0	FAM63A	149239649	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.776000	0.85560	2.002000	0.58637	0.460000	0.39030	ACA		0.483	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		37	64	0	0	0	1	0	37	64				
KIF20B	9585	broad.mit.edu	37	10	91488915	91488915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91488915G>T	ENST00000371728.3	+	18	2367	c.2302G>T	c.(2302-2304)Gaa>Taa	p.E768*	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Nonsense_Mutation_p.E768*|KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E768*|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E728*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	768					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAGAATTAAAGAATTGATAAA	0.239																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(2302-2304)Gaa>Taa		kinesin family member 20B							17.0	19.0	18.0					10																	91488915		2088	4152	6240	SO:0001587	stop_gained	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91488915G>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2302G>T	10.37:g.91488915G>T	ENSP00000360793:p.Glu768*					KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E768*|KIF20B_ENST00000371728.3_Nonsense_Mutation_p.E768*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E728*	p.E768*			Q96Q89	KI20B_HUMAN			18	2374	+			768					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	ENST00000371728.3	37	c.2302G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.687131	0.96784	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	.	.	.	3.91	3.91	0.45181	.	0.202906	0.24001	N	0.042477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.5081	0.39060	0.0:0.2162:0.7838:0.0	.	.	.	.	X	728;768;768;768;335	.	ENSP00000260753:E728X	E	+	1	0	KIF20B	91478895	1.000000	0.71417	0.981000	0.43875	0.915000	0.54546	2.780000	0.47742	2.023000	0.59567	0.655000	0.94253	GAA		0.239	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		9	21	1	0	0.0477658	1	0.0484551	9	21				
SLFN11	91607	broad.mit.edu	37	17	33679887	33679887	+	Missense_Mutation	SNP	G	G	A	rs200734680		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33679887G>A	ENST00000394566.1	-	7	2466	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	SLFN11_ENST00000308377.4_Missense_Mutation_p.R732C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	732					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.R732C(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGCATTGCGAACTATTCTG	0.443																																						ENST00000394566.1																			1	Substitution - Missense(1)	p.R732C(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(2194-2196)Cgc>Tgc		schlafen family member 11							141.0	139.0	140.0					17																	33679887		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679887G>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2194C>T	17.37:g.33679887G>A	ENSP00000378067:p.Arg732Cys					SLFN11_ENST00000308377.4_Missense_Mutation_p.R732C	p.R732C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2466	-		Ovarian(249;0.17)	732					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2194C>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	g	9.725	1.160599	0.21454	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.98105	-4.72;-4.72	3.85	2.88	0.33553	.	0.000000	0.48767	D	0.000176	D	0.95850	0.8649	M	0.79926	2.475	0.25052	N	0.991124	D	0.54397	0.966	B	0.39094	0.29	D	0.91658	0.5340	10	0.87932	D	0	.	7.3942	0.26927	0.1209:0.0:0.8791:0.0	.	732	Q7Z7L1	SLN11_HUMAN	C	732	ENSP00000312402:R732C;ENSP00000378067:R732C	ENSP00000312402:R732C	R	-	1	0	SLFN11	30704000	0.115000	0.22152	0.016000	0.15963	0.130000	0.20726	2.299000	0.43611	0.953000	0.37825	0.655000	0.94253	CGC		0.443	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		46	92	0	0	0	1	0	46	92				
GPR143	4935	broad.mit.edu	37	X	9709432	9709432	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:9709432A>G	ENST00000467482.1	-	7	977	c.831T>C	c.(829-831)aaT>aaC	p.N277N	GPR143_ENST00000380929.2_Silent_p.N297N|GPR143_ENST00000487206.1_5'Flank			P51810	GP143_HUMAN	G protein-coupled receptor 143	277					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAGAACCTCCATTGATATCTG	0.318																																						ENST00000467482.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(829-831)aaT>aaC		G protein-coupled receptor 143							64.0	58.0	60.0					X																	9709432		2202	4300	6502	SO:0001819	synonymous_variant	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9709432A>G	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.831T>C	X.37:g.9709432A>G						GPR143_ENST00000380929.2_Silent_p.N297N	p.N277N			P51810	GP143_HUMAN			7	977	-		Hepatocellular(5;0.000888)	277					Q6NTI7	Silent	SNP	ENST00000467482.1	37	c.831T>C	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	A	6.302	0.423853	0.11928	.	.	ENSG00000101850	ENST00000447366	.	.	.	4.91	-1.9	0.07665	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33752	-0.9856	4	.	.	.	-2.61	10.745	0.46175	0.4811:0.0:0.5189:0.0	.	.	.	.	R	213	.	.	W	-	1	0	GPR143	9669432	0.000000	0.05858	0.000000	0.03702	0.963000	0.63663	-0.728000	0.04925	-0.841000	0.04200	0.486000	0.48141	TGG		0.318	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		6	12	0	0	0	1	0	6	12				
PEG3	5178	broad.mit.edu	37	19	57335881	57335881	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57335881C>A	ENST00000326441.9	-	4	506	c.143G>T	c.(142-144)aGg>aTg	p.R48M	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R48M|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000391708.3_De_novo_Start_InFrame|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000599935.1_De_novo_Start_InFrame	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	48	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTCCGAAACCTCTGATGAAA	0.507																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(142-144)aGg>aTg		paternally expressed 3							74.0	74.0	74.0					19																	57335881		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335881C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.143G>T	19.37:g.57335881C>A	ENSP00000326581:p.Arg48Met					PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000599935.1_De_novo_Start_InFrame|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R48M|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000391708.3_De_novo_Start_InFrame|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000594706.1_Intron	p.R48M	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	4	506	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	48			SCAN box.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.143G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711863	0.68730	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.05025	3.51;3.51	4.88	2.71	0.32032	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.46145	D	0.000314	T	0.21103	0.0508	M	0.84585	2.705	.	.	.	D	0.71674	0.998	D	0.66847	0.947	T	0.20874	-1.0262	9	0.87932	D	0	-32.977	5.7632	0.18211	0.0:0.6822:0.2117:0.106	.	48	Q9GZU2	PEG3_HUMAN	M	48	ENSP00000326581:R48M;ENSP00000403051:R48M	ENSP00000292074:R48M	R	-	2	0	ZIM2	62027693	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	0.650000	0.24858	1.341000	0.45600	0.655000	0.94253	AGG		0.507	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			24	32	1	0	6.21321e-17	1	8.30052e-17	24	32				
PRICKLE2	166336	broad.mit.edu	37	3	64084736	64084736	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:64084736G>T	ENST00000295902.6	-	8	3111	c.2526C>A	c.(2524-2526)atC>atA	p.I842I	PRICKLE2_ENST00000564377.1_Silent_p.I898I|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	842					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I842I(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ATTAAGAAATGATACAGTTTT	0.433																																						ENST00000295902.6																			1	Substitution - coding silent(1)	p.I842I(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2524-2526)atC>atA		prickle homolog 2 (Drosophila)							99.0	101.0	101.0					3																	64084736		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084736G>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2526C>A	3.37:g.64084736G>T						RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.I898I	p.I842I	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	3111	-		Lung NSC(201;0.136)	842					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.2526C>A	CCDS2902.1																																																																																				0.433	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		18	59	1	0	0.000958276	1	0.00100963	18	59				
SCOC	60592	broad.mit.edu	37	4	141302251	141302251	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:141302251G>T	ENST00000608372.1	+	4	500	c.473G>T	c.(472-474)aGa>aTa	p.R158I	SCOC_ENST00000506322.1_Missense_Mutation_p.R81I|SCOC_ENST00000506597.1_Missense_Mutation_p.R130I|SCOC_ENST00000394205.3_Missense_Mutation_p.R121I|SCOC_ENST00000394201.4_Missense_Mutation_p.R81I|SCOC_ENST00000394203.3_Missense_Mutation_p.R121I|SCOC_ENST00000512749.1_Missense_Mutation_p.R81I|SCOC_ENST00000502535.1_Missense_Mutation_p.R81I|SCOC_ENST00000510586.1_Missense_Mutation_p.R81I|SCOC_ENST00000338517.4_Missense_Mutation_p.R121I			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	158					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAAAGCAAAAGAAAGTAAGGG	0.333																																						ENST00000394203.3																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(361-363)aGa>aTa		short coiled-coil protein							39.0	39.0	39.0					4																	141302251		2202	4296	6498	SO:0001583	missense	0					Golgi apparatus|nucleus	protein binding	g.chr4:141302251G>T	AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"""short coiled coil protein"""			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.473G>T	4.37:g.141302251G>T	ENSP00000477352:p.Arg158Ile					SCOC_ENST00000394205.3_Missense_Mutation_p.R121I|SCOC_ENST00000502535.1_Missense_Mutation_p.R81I|SCOC_ENST00000512749.1_Missense_Mutation_p.R81I|SCOC_ENST00000338517.4_Missense_Mutation_p.R121I|SCOC_ENST00000506597.1_Missense_Mutation_p.R130I|SCOC_ENST00000394201.3_Missense_Mutation_p.R158I|SCOC_ENST00000506322.1_Missense_Mutation_p.R81I	p.R121I	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN			4	540	+	all_hematologic(180;0.162)		158					B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	ENST00000608372.1	37	c.362G>T	CCDS54806.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538345	0.85917	.	.	ENSG00000153130	ENST00000394205;ENST00000338517;ENST00000394203;ENST00000506322;ENST00000512749;ENST00000394201;ENST00000506597;ENST00000502535	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.997;0.999;0.999;0.974;0.974	T	0.70995	-0.4720	9	0.87932	D	0	-19.2779	19.2724	0.94016	0.0:0.0:1.0:0.0	.	53;130;158;120;121	Q9UIL1-4;E9PB65;Q9UIL1;Q9UIL1-3;Q9UIL1-2	.;.;SCOC_HUMAN;.;.	I	121;121;121;81;81;158;130;81	.	ENSP00000345262:R121I	R	+	2	0	SCOC	141521701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.741000	0.98843	2.637000	0.89404	0.585000	0.79938	AGA		0.333	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257274.2			5	20	1	0	0.217242	1	0.218251	5	20				
RLF	6018	broad.mit.edu	37	1	40701803	40701803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40701803C>T	ENST00000372771.4	+	8	1456	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	477					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|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(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AACTTTAAAACGACACTGCCA	0.398																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(1429-1431)Cga>Tga		rearranged L-myc fusion							63.0	68.0	66.0					1																	40701803		2203	4300	6503	SO:0001587	stop_gained	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40701803C>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1429C>T	1.37:g.40701803C>T	ENSP00000361857:p.Arg477*						p.R477*	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	1456	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	477					Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	ENST00000372771.4	37	c.1429C>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840032	0.91117	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	6.07	5.15	0.70609	.	0.117017	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1225	16.6867	0.85310	0.1306:0.8694:0.0:0.0	.	.	.	.	X	477;170	.	ENSP00000361857:R477X	R	+	1	2	RLF	40474390	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	2.484000	0.45242	1.534000	0.49203	0.655000	0.94253	CGA		0.398	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		33	52	0	0	0	1	0	33	52				
MOG	4340	broad.mit.edu	37	6	29627126	29627126	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29627126C>A	ENST00000376917.3	+	2	348	c.119C>A	c.(118-120)cCt>cAt	p.P40H	MOG_ENST00000416766.2_Missense_Mutation_p.P40H|MOG_ENST00000396704.3_Missense_Mutation_p.P40H|MOG_ENST00000483013.1_Intron|MOG_ENST00000533330.2_Missense_Mutation_p.P40H|MOG_ENST00000376902.3_Missense_Mutation_p.P40H|MOG_ENST00000396701.2_Missense_Mutation_p.P40H|MOG_ENST00000376891.4_Missense_Mutation_p.P40H|MOG_ENST00000376898.3_Missense_Mutation_p.P40H|MOG_ENST00000494692.1_Missense_Mutation_p.P40H|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Missense_Mutation_p.P40H|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376888.2_Intron|MOG_ENST00000376894.4_Missense_Mutation_p.P40H	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	40	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCAAGACACCCTATCCGGGCT	0.547																																						ENST00000376894.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(118-120)cCt>cAt		myelin oligodendrocyte glycoprotein							197.0	218.0	210.0					6																	29627126		1511	2709	4220	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627126C>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.119C>A	6.37:g.29627126C>A	ENSP00000366115:p.Pro40His					MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376917.3_Missense_Mutation_p.P40H|MOG_ENST00000376891.4_Missense_Mutation_p.P40H|MOG_ENST00000431798.2_Missense_Mutation_p.P40H|MOG_ENST00000490427.1_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.P40H|MOG_ENST00000416766.2_Missense_Mutation_p.P40H|MOG_ENST00000376898.3_Missense_Mutation_p.P40H|MOG_ENST00000396701.2_Missense_Mutation_p.P40H|MOG_ENST00000533330.2_Missense_Mutation_p.P40H|MOG_ENST00000494692.1_Missense_Mutation_p.P40H|MOG_ENST00000376902.3_Missense_Mutation_p.P40H|MOG_ENST00000376888.2_Intron	p.P40H			Q16653	MOG_HUMAN			2	237	+			40			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.119C>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465469	0.43839	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.87	5.01	0.66863	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.104849	0.43416	D	0.000579	T	0.42337	0.1198	M	0.74258	2.255	0.23260	N	0.99802	D;D;D;D;D;D;D;P;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.937;1.0;0.911	D;D;D;D;D;D;D;P;D;P	0.97110	1.0;0.999;0.999;1.0;0.999;0.999;1.0;0.738;0.993;0.865	T	0.41770	-0.9490	10	0.59425	D	0.04	.	12.6547	0.56782	0.0:0.9202:0.0:0.0798	.	40;40;40;40;40;40;40;40;40;40	C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;MOG_HUMAN;.;.;.	H	40	ENSP00000366115:P40H;ENSP00000366100:P40H;ENSP00000431709:P40H;ENSP00000366091:P40H;ENSP00000409394:P40H;ENSP00000366088:P40H;ENSP00000366095:P40H;ENSP00000410866:P40H;ENSP00000379929:P40H;ENSP00000417405:P40H;ENSP00000379932:P40H	ENSP00000366088:P40H	P	+	2	0	MOG	29735105	0.324000	0.24652	0.090000	0.20809	0.291000	0.27294	1.399000	0.34566	1.489000	0.48450	0.655000	0.94253	CCT		0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		14	182	1	0	3.41278e-10	1	4.16994e-10	14	182				
SZRD1	26099	broad.mit.edu	37	1	16719767	16719767	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16719767A>G	ENST00000401088.4	+	3	321	c.146A>G	c.(145-147)gAc>gGc	p.D49G	SZRD1_ENST00000401089.3_Missense_Mutation_p.D30G|SZRD1_ENST00000375590.3_Missense_Mutation_p.D29G|SZRD1_ENST00000492354.1_Missense_Mutation_p.D29G|SZRD1_ENST00000471507.1_Missense_Mutation_p.D48G|SZRD1_ENST00000472461.1_3'UTR|SPATA21_ENST00000466212.1_5'Flank	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	49	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.																GTGATTCAGGACGATAGCCTT	0.577																																						ENST00000401088.4																			0											c.(145-147)gAc>gGc		SUZ RNA binding domain containing 1							102.0	107.0	105.0					1																	16719767		2015	4161	6176	SO:0001583	missense	26099							g.chr1:16719767A>G	BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 144"""	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.146A>G	1.37:g.16719767A>G	ENSP00000383866:p.Asp49Gly					SZRD1_ENST00000471507.1_Missense_Mutation_p.D48G|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000401089.3_Missense_Mutation_p.D30G|SZRD1_ENST00000492354.1_Missense_Mutation_p.D29G|SZRD1_ENST00000375590.3_Missense_Mutation_p.D29G	p.D49G	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1					3	321	+								A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Missense_Mutation	SNP	ENST00000401088.4	37	c.146A>G	CCDS44065.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790450	0.90367	.	.	ENSG00000055070	ENST00000401088;ENST00000471507;ENST00000401089;ENST00000434120;ENST00000375590;ENST00000492354	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;0.98;1.0;0.998	D;D;D;D	0.87578	0.998;0.977;0.998;0.995	T	0.80625	-0.1299	9	0.87932	D	0	-19.6005	14.1987	0.65688	1.0:0.0:0.0:0.0	.	29;49;29;30	F8WEE8;Q7Z422;Q7Z422-2;Q7Z422-4	.;CA144_HUMAN;.;.	G	49;48;30;49;29;29	.	ENSP00000364740:D29G	D	+	2	0	C1orf144	16592354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.347000	0.90062	2.007000	0.58848	0.459000	0.35465	GAC		0.577	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006283.2	NM_015609		20	139	0	0	0	1	0	20	139				
BEND5	79656	broad.mit.edu	37	1	49208353	49208353	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:49208353G>A	ENST00000371833.3	-	4	922	c.836C>T	c.(835-837)tCg>tTg	p.S279L	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	279						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						GTAATAGGACGACGTATTTGC	0.483																																						ENST00000371833.3																			0				large_intestine(5)|lung(2)|skin(1)	8						c.(835-837)tCg>tTg		BEN domain containing 5							135.0	123.0	127.0					1																	49208353		2203	4300	6503	SO:0001583	missense	79656							g.chr1:49208353G>A	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.836C>T	1.37:g.49208353G>A	ENSP00000360899:p.Ser279Leu					AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	p.S279L	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN			4	922	-			279					D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	c.836C>T	CCDS552.2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196246	0.58126	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.45	5.45	0.79879	.	0.192102	0.47093	D	0.000242	T	0.61714	0.2369	N	0.24115	0.695	0.47547	D	0.999458	D	0.64830	0.994	P	0.61201	0.885	T	0.57568	-0.7789	8	.	.	.	-22.4504	18.4445	0.90678	0.0:0.0:1.0:0.0	.	279	Q7L4P6	BEND5_HUMAN	L	279	.	.	S	-	2	0	BEND5	48980940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.112000	0.77086	2.838000	0.97847	0.591000	0.81541	TCG		0.483	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		35	51	0	0	0	1	0	35	51				
CUL4B	8450	broad.mit.edu	37	X	119670796	119670796	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119670796G>T	ENST00000404115.3	-	17	2487	c.2086C>A	c.(2086-2088)Cat>Aat	p.H696N	CUL4B_ENST00000336592.6_Missense_Mutation_p.H683N|CUL4B_ENST00000371322.5_Missense_Mutation_p.H678N	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	696					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGGTAAATGAACTTCCATA	0.353																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2032-2034)Cat>Aat		cullin 4B							120.0	103.0	109.0					X																	119670796		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119670796G>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2086C>A	X.37:g.119670796G>T	ENSP00000384109:p.His696Asn					CUL4B_ENST00000404115.3_Missense_Mutation_p.H696N|CUL4B_ENST00000336592.6_Missense_Mutation_p.H683N	p.H678N	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			15	2093	-			696					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2032C>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203864	0.09704	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73258	-0.73;-0.73;-0.73	5.84	5.84	0.93424	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	N	0.17345	0.48	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.0;0.005;0.003	T	0.51919	-0.8644	9	.	.	.	-14.9097	17.9659	0.89099	0.0:0.0:1.0:0.0	.	500;696;678	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	N	678;683;696	ENSP00000360373:H678N;ENSP00000338919:H683N;ENSP00000384109:H696N	.	H	-	1	0	CUL4B	119554824	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.742000	0.98846	2.463000	0.83235	0.594000	0.82650	CAT		0.353	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		22	37	1	0	2.89027e-11	1	3.58842e-11	22	37				
ZNF560	147741	broad.mit.edu	37	19	9577913	9577913	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9577913T>C	ENST00000301480.4	-	10	1923	c.1710A>G	c.(1708-1710)aaA>aaG	p.K570K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATTCATAGGGTTTCTCTCCAG	0.398																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1708-1710)aaA>aaG		zinc finger protein 560							124.0	113.0	117.0					19																	9577913		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577913T>C	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1710A>G	19.37:g.9577913T>C							p.K570K	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1923	-			570					Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.1710A>G	CCDS12214.1																																																																																				0.398	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		35	63	0	0	0	1	0	35	63				
EDEM1	9695	broad.mit.edu	37	3	5255095	5255095	+	Missense_Mutation	SNP	G	G	A	rs200943819		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:5255095G>A	ENST00000256497.4	+	11	1905	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	591					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GAGCATCTTCGGGAATTGCCA	0.473																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1771-1773)cGg>cAg		ER degradation enhancer, mannosidase alpha-like 1							89.0	80.0	83.0					3																	5255095		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5255095G>A	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1772G>A	3.37:g.5255095G>A	ENSP00000256497:p.Arg591Gln						p.R591Q	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	11	1905	+			591					A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.1772G>A	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304516	0.81136	.	.	ENSG00000134109	ENST00000256497	D	0.83419	-1.72	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	M	0.63843	1.955	0.80722	D	1	P	0.44006	0.824	B	0.35073	0.195	T	0.80219	-0.1473	10	0.30854	T	0.27	-29.1823	19.2516	0.93926	0.0:0.0:1.0:0.0	.	591	Q92611	EDEM1_HUMAN	Q	591	ENSP00000256497:R591Q	ENSP00000256497:R591Q	R	+	2	0	EDEM1	5230095	1.000000	0.71417	0.991000	0.47740	0.717000	0.41224	9.300000	0.96151	2.530000	0.85305	0.655000	0.94253	CGG		0.473	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		9	19	0	0	0	1	0	9	19				
HTR4	3360	broad.mit.edu	37	5	147929810	147929810	+	Silent	SNP	G	G	A	rs200233975		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147929810G>A	ENST00000377888.3	-	3	180	c.42C>T	c.(40-42)ttC>ttT	p.F14F	HTR4_ENST00000314512.6_Silent_p.F14F|HTR4_ENST00000362016.2_Silent_p.F14F|HTR4_ENST00000354217.2_Silent_p.F14F|HTR4_ENST00000360693.3_Silent_p.F14F|HTR4_ENST00000517929.1_Silent_p.F14F|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000520514.1_Silent_p.F14F|HTR4_ENST00000521530.1_Silent_p.F14F|HTR4_ENST00000521735.1_Silent_p.F14F	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	14					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CCACTGACCCGAAACCCTCCT	0.493																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(40-42)ttC>ttT		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	G	,,,,	0,4406		0,0,2203	124.0	94.0	104.0		42,42,42,42,42	0.6	1.0	5		104	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HTR4	NM_000870.5,NM_001040169.2,NM_001040172.2,NM_001040173.2,NM_199453.3	,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,	14/389,14/388,14/361,14/429,14/379	147929810	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147929810G>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.42C>T	5.37:g.147929810G>A						HTR4_ENST00000521530.1_Silent_p.F14F|HTR4_ENST00000377888.3_Silent_p.F14F|HTR4_ENST00000354217.2_Silent_p.F14F|HTR4_ENST00000314512.6_Silent_p.F14F|HTR4_ENST00000362016.2_Silent_p.F14F|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000521735.1_Silent_p.F14F|HTR4_ENST00000520514.1_Silent_p.F14F|HTR4_ENST00000517929.1_Silent_p.F14F	p.F14F	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	180	-			14					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000377888.3	37	c.42C>T	CCDS4291.1																																																																																				0.493	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		23	54	0	0	0	1	0	23	54				
C2CD5	9847	broad.mit.edu	37	12	22609946	22609946	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22609946T>G	ENST00000333957.4	-	23	2938	c.2683A>C	c.(2683-2685)Att>Ctt	p.I895L	C2CD5_ENST00000544930.1_Missense_Mutation_p.I751L|C2CD5_ENST00000446597.1_Missense_Mutation_p.I946L|C2CD5_ENST00000536386.1_Missense_Mutation_p.I948L|C2CD5_ENST00000396028.2_Missense_Mutation_p.I937L|C2CD5_ENST00000542676.1_Missense_Mutation_p.I946L|C2CD5_ENST00000545552.1_Missense_Mutation_p.I949L	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	895					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										AACATGTTAATTATCCCAAGA	0.323																																						ENST00000333957.4																			0											c.(2683-2685)Att>Ctt		C2 calcium-dependent domain containing 5							51.0	52.0	52.0					12																	22609946		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22609946T>G	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2683A>C	12.37:g.22609946T>G	ENSP00000334229:p.Ile895Leu					C2CD5_ENST00000545552.1_Missense_Mutation_p.I949L|C2CD5_ENST00000542676.1_Missense_Mutation_p.I946L|C2CD5_ENST00000536386.1_Missense_Mutation_p.I948L|C2CD5_ENST00000446597.1_Missense_Mutation_p.I946L|C2CD5_ENST00000396028.2_Missense_Mutation_p.I937L|C2CD5_ENST00000544930.1_Missense_Mutation_p.I751L	p.I895L	NM_014802.1	NP_055617.1					23	2938	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2683A>C	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.579|1.579	-0.532049|-0.532049	0.04112|0.04112	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.62788|.	0.04;0.06;0.04;0.04;0.06;0.0|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.059932|.	0.64402|.	D|.	0.000004|.	T|.	0.48978|.	0.1530|.	N|N	0.16368|0.16368	0.405|0.405	0.51482|0.51482	D|D	0.999921|0.999921	B;B;D;D;B|.	0.62365|.	0.052;0.052;0.97;0.991;0.02|.	B;B;D;D;B|.	0.72075|.	0.086;0.039;0.913;0.976;0.007|.	T|.	0.45440|.	-0.9261|.	10|.	0.02654|.	T|.	1|.	-16.0896|-16.0896	15.0106|15.0106	0.71547|0.71547	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	948;946;751;937;895|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	L|Y	895;946;948;937;946;949;751|195	ENSP00000334229:I895L;ENSP00000388756:I946L;ENSP00000439392:I948L;ENSP00000379345:I937L;ENSP00000441951:I946L;ENSP00000443204:I949L|.	ENSP00000334229:I895L|.	I|X	-|-	1|3	0|2	KIAA0528|KIAA0528	22501213|22501213	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.341000|0.341000	0.28922|0.28922	7.303000|7.303000	0.78871|0.78871	2.123000|2.123000	0.65237|0.65237	0.533000|0.533000	0.62120|0.62120	ATT|TAA		0.323	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		15	26	0	0	0	1	0	15	26				
YARS2	51067	broad.mit.edu	37	12	32908477	32908477	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32908477A>C	ENST00000324868.8	-	1	359	c.332T>G	c.(331-333)cTg>cGg	p.L111R		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	111					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GCCTCCCACCAGCGCGATCAC	0.672											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(331-333)cTg>cGg		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						21.0	23.0	23.0					12																	32908477		2202	4300	6502	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32908477A>C	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.332T>G	12.37:g.32908477A>C	ENSP00000320658:p.Leu111Arg		OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836		p.L111R	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			1	359	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		111					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.332T>G	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563590	0.86335	.	.	ENSG00000139131	ENST00000324868	T	0.58506	0.33	4.92	3.76	0.43208	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.288098	0.32301	N	0.006292	T	0.81498	0.4835	H	0.95884	3.735	0.58432	D	0.999997	D	0.71674	0.998	D	0.71656	0.974	D	0.85537	0.1213	10	0.87932	D	0	-17.6449	11.6878	0.51497	0.8517:0.1483:0.0:0.0	.	111	Q9Y2Z4	SYYM_HUMAN	R	111	ENSP00000320658:L111R	ENSP00000320658:L111R	L	-	2	0	YARS2	32799744	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	8.354000	0.90080	0.896000	0.36366	0.529000	0.55759	CTG		0.672	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		14	60	0	0	0	1	0	14	60				
SRBD1	55133	broad.mit.edu	37	2	45645642	45645642	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:45645642A>C	ENST00000263736.4	-	18	2257	c.2195T>G	c.(2194-2196)aTt>aGt	p.I732S	SRBD1_ENST00000535761.1_Missense_Mutation_p.I251S|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	732					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CCATTCAATAATATTTTTGGC	0.388																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(2194-2196)aTt>aGt		S1 RNA binding domain 1							184.0	130.0	149.0					2																	45645642		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45645642A>C	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2195T>G	2.37:g.45645642A>C	ENSP00000263736:p.Ile732Ser					SRBD1_ENST00000535761.1_Missense_Mutation_p.I251S|SRBD1_ENST00000490133.1_5'UTR	p.I732S	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		18	2257	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	732					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.2195T>G	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.729077	0.89390	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.47177	1.05;0.85	5.96	5.96	0.96718	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88794	0.3280	10	0.87932	D	0	.	16.4883	0.84191	1.0:0.0:0.0:0.0	.	732	Q8N5C6	SRBD1_HUMAN	S	732;251	ENSP00000263736:I732S;ENSP00000441272:I251S	ENSP00000263736:I732S	I	-	2	0	SRBD1	45499146	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.828000	0.92047	2.292000	0.77174	0.524000	0.50904	ATT		0.388	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		23	40	0	0	0	1	0	23	40				
NLRP14	338323	broad.mit.edu	37	11	7063935	7063935	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7063935G>T	ENST00000299481.4	+	4	1024	c.678G>T	c.(676-678)gaG>gaT	p.E226D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	226	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGCTGAAAGAGAGAAGCTTTG	0.423																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(676-678)gaG>gaT		NLR family, pyrin domain containing 14							95.0	102.0	100.0					11																	7063935		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7063935G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.678G>T	11.37:g.7063935G>T	ENSP00000299481:p.Glu226Asp						p.E226D	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1024	+			226			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.678G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384548	0.25031	.	.	ENSG00000158077	ENST00000299481	T	0.81078	-1.45	4.56	-3.05	0.05396	NACHT nucleoside triphosphatase (1);	0.000000	0.47455	D	0.000225	T	0.79936	0.4532	L	0.39147	1.195	0.09310	N	1	D	0.65815	0.995	D	0.66716	0.946	T	0.73272	-0.4035	10	0.29301	T	0.29	.	10.7466	0.46183	0.6192:0.0:0.3808:0.0	.	226	Q86W24	NAL14_HUMAN	D	226	ENSP00000299481:E226D	ENSP00000299481:E226D	E	+	3	2	NLRP14	7020511	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	-0.361000	0.07612	-0.448000	0.07128	0.650000	0.86243	GAG		0.423	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		36	74	1	0	4.34311e-12	1	5.44389e-12	36	74				
KIF11	3832	broad.mit.edu	37	10	94397195	94397195	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94397195A>G	ENST00000260731.3	+	16	2143	c.2053A>G	c.(2053-2055)Aat>Gat	p.N685D		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	685					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTGTGTAACAATCTACATGA	0.338																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2053-2055)Aat>Gat		kinesin family member 11							70.0	68.0	69.0					10																	94397195		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94397195A>G	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2053A>G	10.37:g.94397195A>G	ENSP00000260731:p.Asn685Asp						p.N685D	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			16	2143	+			685					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2053A>G	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483738	0.26598	.	.	ENSG00000138160	ENST00000260731	T	0.65732	-0.17	5.2	2.62	0.31277	.	0.910817	0.09435	N	0.802631	T	0.45418	0.1341	L	0.27053	0.805	0.27598	N	0.949063	B	0.09022	0.002	B	0.04013	0.001	T	0.28870	-1.0030	10	0.11485	T	0.65	.	9.3355	0.38047	0.5543:0.4457:0.0:0.0	.	685	P52732	KIF11_HUMAN	D	685	ENSP00000260731:N685D	ENSP00000260731:N685D	N	+	1	0	KIF11	94387175	0.010000	0.17322	0.992000	0.48379	0.712000	0.41017	0.612000	0.24283	0.893000	0.36288	0.533000	0.62120	AAT		0.338	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		12	19	0	0	0	1	0	12	19				
CACNB4	785	broad.mit.edu	37	2	152695763	152695763	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152695763G>T	ENST00000539935.1	-	14	1500	c.1433C>A	c.(1432-1434)tCt>tAt	p.S478Y	CACNB4_ENST00000201943.5_Missense_Mutation_p.S416Y|CACNB4_ENST00000427385.1_Missense_Mutation_p.S460Y|CACNB4_ENST00000360283.6_Missense_Mutation_p.S445Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.S431Y|CACNB4_ENST00000534999.1_Missense_Mutation_p.S444Y	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	478					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTATGCTGAGAACTGGAAGA	0.463																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(1333-1335)tCt>tAt		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						117.0	116.0	116.0					2																	152695763		1971	4172	6143	SO:0001583	missense	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152695763G>T	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1433C>A	2.37:g.152695763G>T	ENSP00000438949:p.Ser478Tyr					CACNB4_ENST00000427385.1_Missense_Mutation_p.S460Y|CACNB4_ENST00000539935.1_Missense_Mutation_p.S478Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.S431Y|CACNB4_ENST00000534999.1_Missense_Mutation_p.S444Y|CACNB4_ENST00000201943.5_Missense_Mutation_p.S416Y	p.S445Y			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	13	1591	-			478					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.1334C>A	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866160	0.71949	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;D	0.81996	-0.72;-0.72;-0.72;-0.71;-0.71;-0.72;-1.56	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.90140	0.6919	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.99;0.996;0.996;0.998	D;D;D;D	0.79108	0.962;0.982;0.982;0.992	D	0.90771	0.4672	10	0.66056	D	0.02	-9.0424	18.8721	0.92319	0.0:0.0:1.0:0.0	.	416;478;460;444	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	Y	478;445;373;473;444;431;460;416;479	ENSP00000438949:S478Y;ENSP00000353425:S445Y;ENSP00000390161:S473Y;ENSP00000443893:S444Y;ENSP00000380490:S431Y;ENSP00000410978:S460Y;ENSP00000201943:S416Y	ENSP00000201943:S416Y	S	-	2	0	CACNB4	152404009	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.382000	0.97209	2.457000	0.83068	0.460000	0.39030	TCT		0.463	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		10	23	1	0	2.74318e-10	1	3.35981e-10	10	23				
BST1	683	broad.mit.edu	37	4	15706562	15706562	+	Intron	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:15706562G>T	ENST00000265016.4	+	2	383				BST1_ENST00000382346.3_Nonsense_Mutation_p.E70*	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1						humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						AAACAGCAGAGAACCACCTGT	0.403																																						ENST00000382346.3																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						c.(208-210)Gaa>Taa		bone marrow stromal cell antigen 1							29.0	25.0	26.0					4																	15706562		876	1991	2867	SO:0001627	intron_variant	683				humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	g.chr4:15706562G>T	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.189-576G>T	4.37:g.15706562G>T						BST1_ENST00000265016.4_Intron	p.E70*			Q10588	BST1_HUMAN			2	257	+			63					B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Nonsense_Mutation	SNP	ENST00000265016.4	37	c.208G>T	CCDS3416.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893119	0.33442	.	.	ENSG00000109743	ENST00000382346	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	8.3996	0.32579	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000371783:E70X	E	+	1	0	BST1	15315660	0.026000	0.19158	0.005000	0.12908	0.025000	0.11179	1.097000	0.30988	1.654000	0.50703	0.478000	0.44815	GAA		0.403	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		3	7	1	0	1	1	1	3	7				
USP24	23358	broad.mit.edu	37	1	55567320	55567320	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55567320A>G	ENST00000294383.6	-	43	5081	c.5082T>C	c.(5080-5082)ggT>ggC	p.G1694G	USP24_ENST00000407756.1_Silent_p.G1534G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1694	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAGTTGCACCACCATTTCTCA	0.458																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(5080-5082)ggT>ggC		ubiquitin specific peptidase 24							64.0	64.0	64.0					1																	55567320		1974	4152	6126	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55567320A>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5082T>C	1.37:g.55567320A>G						USP24_ENST00000407756.1_Silent_p.G1534G	p.G1694G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			43	5081	-			1694					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.5082T>C	CCDS44154.2																																																																																				0.458	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			4	19	0	0	0	1	0	4	19				
TLR6	10333	broad.mit.edu	37	4	38829644	38829644	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38829644G>T	ENST00000381950.1	-	1	1516	c.1451C>A	c.(1450-1452)tCt>tAt	p.S484Y	TLR6_ENST00000436693.2_Missense_Mutation_p.S484Y			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	484					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCAGTTAAAGAATTGAAAGC	0.408																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1450-1452)tCt>tAt		toll-like receptor 6							71.0	79.0	76.0					4																	38829644		2203	4297	6500	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829644G>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1451C>A	4.37:g.38829644G>T	ENSP00000371376:p.Ser484Tyr					TLR6_ENST00000381950.1_Missense_Mutation_p.S484Y	p.S484Y	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	1570	-			484					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1451C>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	6.598	0.478731	0.12521	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.60672	0.17;0.17	4.97	-1.12	0.09808	.	0.586313	0.16613	N	0.206825	T	0.36193	0.0958	L	0.29908	0.895	0.09310	N	0.999997	B	0.09022	0.002	B	0.24394	0.053	T	0.20405	-1.0276	10	0.48119	T	0.1	.	0.4701	0.00530	0.3588:0.1838:0.248:0.2094	.	484	Q9Y2C9	TLR6_HUMAN	Y	484	ENSP00000389600:S484Y;ENSP00000371376:S484Y	ENSP00000371376:S484Y	S	-	2	0	TLR6	38506039	0.000000	0.05858	0.138000	0.22173	0.958000	0.62258	-0.187000	0.09656	-0.101000	0.12219	0.484000	0.47621	TCT		0.408	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			38	55	1	0	3.21399e-22	1	4.46229e-22	38	55				
INPP4B	8821	broad.mit.edu	37	4	143159024	143159024	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:143159024A>C	ENST00000513000.1	-	13	1262	c.829T>G	c.(829-831)Ttg>Gtg	p.L277V	INPP4B_ENST00000262992.4_Missense_Mutation_p.L277V|INPP4B_ENST00000509777.1_Missense_Mutation_p.L277V|INPP4B_ENST00000308502.4_Missense_Mutation_p.L277V|INPP4B_ENST00000508116.1_Missense_Mutation_p.L277V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	277					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACCTGCACAAATCTTCTTTA	0.284																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(829-831)Ttg>Gtg		inositol polyphosphate-4-phosphatase, type II, 105kDa							36.0	36.0	36.0					4																	143159024		2202	4297	6499	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143159024A>C	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.829T>G	4.37:g.143159024A>C	ENSP00000425487:p.Leu277Val					INPP4B_ENST00000308502.4_Missense_Mutation_p.L277V|INPP4B_ENST00000509777.1_Missense_Mutation_p.L277V|INPP4B_ENST00000262992.4_Missense_Mutation_p.L277V|INPP4B_ENST00000508116.1_Missense_Mutation_p.L277V	p.L277V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			13	1262	-	all_hematologic(180;0.158)		277					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.829T>G	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	A	4.055	0.007918	0.07866	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.49	2.89	0.33648	.	0.421745	0.22603	N	0.057926	T	0.19886	0.0478	L	0.34521	1.04	0.24982	N	0.991599	B;P	0.35401	0.4;0.499	B;B	0.36464	0.225;0.167	T	0.11179	-1.0598	10	0.30078	T	0.28	.	4.6459	0.12572	0.6239:0.0:0.1558:0.2203	.	148;277	B7Z6T2;O15327	.;INP4B_HUMAN	V	277;277;277;148;277;277;92;92;277;148	ENSP00000425487:L277V;ENSP00000262992:L277V;ENSP00000308441:L277V;ENSP00000423954:L277V;ENSP00000422793:L277V;ENSP00000426207:L92V;ENSP00000427250:L277V;ENSP00000421065:L148V	ENSP00000262992:L277V	L	-	1	2	INPP4B	143378474	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.446000	0.52928	0.393000	0.25203	0.533000	0.62120	TTG		0.284	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		12	15	0	0	0	1	0	12	15				
CDC6	990	broad.mit.edu	37	17	38458221	38458221	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38458221A>C	ENST00000209728.4	+	12	2122	c.1651A>C	c.(1651-1653)Att>Ctt	p.I551L	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	551					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TAAAGCTTTAATTGGAAATAT	0.368																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(1651-1653)Att>Ctt		cell division cycle 6							105.0	110.0	109.0					17																	38458221		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38458221A>C	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1651A>C	17.37:g.38458221A>C	ENSP00000209728:p.Ile551Leu						p.I551L	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			12	2122	+			551					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.1651A>C	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724865	0.30593	.	.	ENSG00000094804	ENST00000209728	T	0.39056	1.1	5.76	2.36	0.29203	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.600846	0.18173	N	0.149384	T	0.21427	0.0516	N	0.19112	0.55	0.27786	N	0.942982	B	0.06786	0.001	B	0.04013	0.001	T	0.30238	-0.9985	10	0.05525	T	0.97	-0.9442	8.4597	0.32921	0.6749:0.0:0.3251:0.0	.	551	Q99741	CDC6_HUMAN	L	551	ENSP00000209728:I551L	ENSP00000209728:I551L	I	+	1	0	CDC6	35711747	0.640000	0.27243	0.823000	0.32752	0.991000	0.79684	0.094000	0.15107	0.198000	0.20407	0.533000	0.62120	ATT		0.368	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			20	47	0	0	0	1	0	20	47				
DICER1	23405	broad.mit.edu	37	14	95560464	95560464	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:95560464C>T	ENST00000526495.1	-	26	5416	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_ENST00000527416.2_5'Flank|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N|DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N|DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1709	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		D -> E (in non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity). {ECO:0000269|PubMed:22187960}.|D -> G (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> N (in non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.D1709N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAATCGCATCTCCCAGGAAT	0.527			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		1	Substitution - Missense(1)	p.D1709N(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5125-5127)Gat>Aat		dicer 1, ribonuclease type III							69.0	73.0	72.0					14																	95560464		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95560464C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5125G>A	14.37:g.95560464C>T	ENSP00000437256:p.Asp1709Asn					DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N|DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N	p.D1709N			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	26	5416	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1709			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5125G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678665	0.96764	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.43	5.43	0.79202	Ribonuclease III (6);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	H	0.99668	4.69	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.995	D	0.99785	1.1029	10	0.87932	D	0	-27.7505	19.2735	0.94021	0.0:1.0:0.0:0.0	.	607;1709	B3KRG4;Q9UPY3	.;DICER_HUMAN	N	1709;1709;1709;1709;607;1709	ENSP00000343745:D1709N;ENSP00000437256:D1709N;ENSP00000376783:D1709N;ENSP00000435681:D1709N;ENSP00000451041:D607N;ENSP00000444719:D1709N	ENSP00000343745:D1709N	D	-	1	0	DICER1	94630217	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.421000	0.80204	2.549000	0.85964	0.655000	0.94253	GAT		0.527	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			31	47	0	0	0	1	0	31	47				
NUP62	23636	broad.mit.edu	37	19	50412779	50412779	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50412779T>G	ENST00000596217.1	-	2	2173	c.286A>C	c.(286-288)Aag>Cag	p.K96Q	NUP62_ENST00000597723.1_Missense_Mutation_p.K96Q|NUP62_ENST00000352066.3_Missense_Mutation_p.K96Q|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000341114.3_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000422090.2_Missense_Mutation_p.K96Q|NUP62_ENST00000413454.1_Missense_Mutation_p.K96Q|NUP62_ENST00000597029.1_Missense_Mutation_p.K96Q			P37198	NUP62_HUMAN	nucleoporin 62kDa	96	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGTTGAGCTTTGAAGCACCG	0.572																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(286-288)Aag>Cag		nucleoporin 62kDa							94.0	95.0	95.0					19																	50412779		2203	4300	6503	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412779T>G	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.286A>C	19.37:g.50412779T>G	ENSP00000471191:p.Lys96Gln					CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000352066.3_Missense_Mutation_p.K96Q|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.K96Q|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.K96Q|NUP62_ENST00000597029.1_Missense_Mutation_p.K96Q|NUP62_ENST00000422090.2_Missense_Mutation_p.K96Q	p.K96Q			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2173	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	96			15 X 9 AA approximate repeats.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.286A>C	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165441	0.38217	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.38560	1.13;1.13;1.13	5.2	5.2	0.72013	Nucleoporin, NSP1-like, C-terminal (1);	0.167830	0.39909	U	0.001231	T	0.55257	0.1909	M	0.78637	2.42	0.51233	D	0.999913	D;D	0.57571	0.98;0.966	P;P	0.53649	0.731;0.543	T	0.58132	-0.7690	10	0.44086	T	0.13	-16.2311	11.6513	0.51290	0.0:0.0:0.0:1.0	.	96;96	Q8WYU3;P37198	.;NUP62_HUMAN	Q	96	ENSP00000305503:K96Q;ENSP00000407331:K96Q;ENSP00000387991:K96Q	ENSP00000321866:K96Q	K	-	1	0	NUP62	55104591	0.990000	0.36364	0.762000	0.31397	0.030000	0.12068	2.541000	0.45735	2.319000	0.78375	0.533000	0.62120	AAG		0.572	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		61	90	0	0	0	1	0	61	90				
CCDC70	83446	broad.mit.edu	37	13	52439882	52439882	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52439882A>C	ENST00000242819.4	+	2	664	c.368A>C	c.(367-369)aAa>aCa	p.K123T		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	123						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		ACTTTCTGGAAAAAGTACCGC	0.468																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(367-369)aAa>aCa		coiled-coil domain containing 70							103.0	119.0	114.0					13																	52439882		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439882A>C		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.368A>C	13.37:g.52439882A>C	ENSP00000242819:p.Lys123Thr						p.K123T	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	664	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	123					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.368A>C	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	A	8.301	0.820015	0.16678	.	.	ENSG00000123171	ENST00000242819	T	0.19938	2.11	5.93	-1.29	0.09288	.	0.436968	0.21812	N	0.068741	T	0.15869	0.0382	M	0.65975	2.015	0.09310	N	1	B	0.28258	0.205	B	0.21917	0.037	T	0.14476	-1.0471	10	0.29301	T	0.29	-3.5966	4.2854	0.10853	0.5102:0.0:0.1364:0.3534	.	123	Q6NSX1	CCD70_HUMAN	T	123	ENSP00000242819:K123T	ENSP00000242819:K123T	K	+	2	0	CCDC70	51337883	0.978000	0.34361	0.000000	0.03702	0.002000	0.02628	2.221000	0.42917	-0.080000	0.12685	0.533000	0.62120	AAA		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		65	118	0	0	0	1	0	65	118				
CASD1	64921	broad.mit.edu	37	7	94178860	94178860	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94178860A>C	ENST00000297273.4	+	14	2016	c.1729A>C	c.(1729-1731)Atc>Ctc	p.I577L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	577						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTGAGAAGATCTTTTCTCT	0.333																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(1729-1731)Atc>Ctc		CAS1 domain containing 1							189.0	179.0	183.0					7																	94178860		2203	4300	6503	SO:0001583	missense	64921					integral to membrane		g.chr7:94178860A>C	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1729A>C	7.37:g.94178860A>C	ENSP00000297273:p.Ile577Leu						p.I577L	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		14	2016	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		577					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.1729A>C	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537453	0.45176	.	.	ENSG00000127995	ENST00000297273	T	0.52057	0.68	5.34	5.34	0.76211	.	0.142995	0.48286	D	0.000200	T	0.33904	0.0879	N	0.25992	0.78	0.36878	D	0.889267	B;B	0.26935	0.164;0.164	B;B	0.24848	0.056;0.056	T	0.40683	-0.9550	10	0.66056	D	0.02	.	8.9782	0.35948	0.8545:0.0:0.1455:0.0	.	577;577	Q8WZ77;Q96PB1	.;CASD1_HUMAN	L	577	ENSP00000297273:I577L	ENSP00000297273:I577L	I	+	1	0	CASD1	94016796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.015000	0.49599	2.163000	0.67991	0.528000	0.53228	ATC		0.333	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		18	34	0	0	0	1	0	18	34				
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	c.(388-390)cGa>cAa		phosphatase and tensin homolog							139.0	129.0	133.0					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692905G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R130Q	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1746	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.389G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		39	63	0	0	0	1	0	39	63				
FAM83B	222584	broad.mit.edu	37	6	54804852	54804852	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:54804852T>G	ENST00000306858.7	+	5	1199	c.1083T>G	c.(1081-1083)caT>caG	p.H361Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	361										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACAAACCTCATTTTGTTCCTA	0.343																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1081-1083)caT>caG		family with sequence similarity 83, member B							62.0	61.0	61.0					6																	54804852		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54804852T>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1083T>G	6.37:g.54804852T>G	ENSP00000304078:p.His361Gln						p.H361Q	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1199	+	Lung NSC(77;0.0178)|Renal(3;0.122)		361					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1083T>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258098	0.23051	.	.	ENSG00000168143	ENST00000306858	T	0.06608	3.28	5.28	0.0215	0.14129	.	0.224065	0.39020	N	0.001496	T	0.01976	0.0062	M	0.65975	2.015	0.35279	D	0.78118	B	0.14438	0.01	B	0.10450	0.005	T	0.38134	-0.9675	10	0.29301	T	0.29	-24.1854	1.6382	0.02747	0.1158:0.1868:0.2155:0.4819	.	361	Q5T0W9	FA83B_HUMAN	Q	361	ENSP00000304078:H361Q	ENSP00000304078:H361Q	H	+	3	2	FAM83B	54912811	0.981000	0.34729	0.987000	0.45799	0.380000	0.30137	0.032000	0.13732	-0.140000	0.11394	-0.636000	0.03981	CAT		0.343	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		6	65	0	0	0	1	0	6	65				
TNC	3371	broad.mit.edu	37	9	117845063	117845063	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:117845063T>C	ENST00000350763.4	-	5	2566	c.2155A>G	c.(2155-2157)Aaa>Gaa	p.K719E	TNC_ENST00000542877.1_Missense_Mutation_p.K719E|TNC_ENST00000537320.1_Missense_Mutation_p.K719E|TNC_ENST00000341037.4_Missense_Mutation_p.K719E|TNC_ENST00000423613.2_Missense_Mutation_p.K719E|TNC_ENST00000340094.3_Missense_Mutation_p.K719E|TNC_ENST00000346706.3_Missense_Mutation_p.K719E|TNC_ENST00000535648.1_Missense_Mutation_p.K719E|TNC_ENST00000345230.3_Missense_Mutation_p.K719E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	719	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTTGAATTTCAGGCCTTCA	0.463																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(2155-2157)Aaa>Gaa		tenascin C							119.0	104.0	109.0					9																	117845063		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117845063T>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2155A>G	9.37:g.117845063T>C	ENSP00000265131:p.Lys719Glu					TNC_ENST00000535648.1_Missense_Mutation_p.K719E|TNC_ENST00000423613.2_Missense_Mutation_p.K719E|TNC_ENST00000346706.3_Missense_Mutation_p.K719E|TNC_ENST00000345230.3_Missense_Mutation_p.K719E|TNC_ENST00000542877.1_Missense_Mutation_p.K719E|TNC_ENST00000340094.3_Missense_Mutation_p.K719E|TNC_ENST00000341037.4_Missense_Mutation_p.K719E|TNC_ENST00000537320.1_Missense_Mutation_p.K719E	p.K719E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			5	2566	-			719			Fibronectin type-III 2.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2155A>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831228	0.71258	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.88	5.88	0.94601	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.304873	0.38663	N	0.001604	T	0.64057	0.2564	L	0.54323	1.7	0.21984	N	0.999434	P;B	0.45768	0.866;0.155	P;P	0.54544	0.755;0.472	T	0.60717	-0.7208	10	0.59425	D	0.04	.	16.268	0.82600	0.0:0.0:0.0:1.0	.	719;719	E9PC84;P24821	.;TENA_HUMAN	E	719	ENSP00000344400:K719E;ENSP00000438152:K719E;ENSP00000344555:K719E;ENSP00000345861:K719E;ENSP00000265131:K719E;ENSP00000339553:K719E;ENSP00000411406:K719E;ENSP00000443478:K719E;ENSP00000442242:K719E	ENSP00000344400:K719E	K	-	1	0	TNC	116884884	0.858000	0.29795	0.287000	0.24848	0.889000	0.51656	4.932000	0.63476	2.240000	0.73641	0.533000	0.62120	AAA		0.463	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		19	30	0	0	0	1	0	19	30				
MYT1L	23040	broad.mit.edu	37	2	1906946	1906946	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:1906946A>G	ENST00000399161.2	-	14	2685	c.1938T>C	c.(1936-1938)ttT>ttC	p.F646F	MYT1L_ENST00000428368.2_Silent_p.F644F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	646					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTTGTATTCAAACGAGGTCT	0.483																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1936-1938)ttT>ttC		myelin transcription factor 1-like							151.0	138.0	143.0					2																	1906946		1923	4139	6062	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1906946A>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1938T>C	2.37:g.1906946A>G						MYT1L_ENST00000428368.2_Silent_p.F644F	p.F646F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	14	2685	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	646					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1938T>C																																																																																					0.483	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		10	63	0	0	0	1	0	10	63				
OR14K1	343170	broad.mit.edu	37	1	247901933	247901933	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247901933A>T	ENST00000283225.2	+	1	17	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						AATCAGACACAGATGATGGAA	0.388																																						ENST00000283225.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(16-18)cAg>cTg		olfactory receptor, family 14, subfamily K, member 1							82.0	79.0	80.0					1																	247901933		1943	4149	6092	SO:0001583	missense	343170							g.chr1:247901933A>T	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.17A>T	1.37:g.247901933A>T	ENSP00000283225:p.Gln6Leu					RP11-634B7.4_ENST00000449298.1_RNA	p.Q6L							1	17	+								A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.17A>T		.	.	.	.	.	.	.	.	.	.	A	2.240	-0.374060	0.05034	.	.	ENSG00000153230	ENST00000283225	T	0.18657	2.2	2.76	-5.31	0.02730	.	1.397360	0.05764	N	0.605431	T	0.12987	0.0315	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35500	-0.9786	7	0.33141	T	0.24	.	4.23	0.10599	0.3286:0.4316:0.0:0.2398	.	.	.	.	L	6	ENSP00000283225:Q6L	ENSP00000283225:Q6L	Q	+	2	0	OR14K1	245968556	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.730000	0.01855	-0.679000	0.05217	-1.459000	0.01027	CAG		0.388	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	NM_001004732		12	41	0	0	0	1	0	12	41				
BCORL1	63035	broad.mit.edu	37	X	129148945	129148945	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129148945G>T	ENST00000218147.7	+	4	2394	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y	BCORL1_ENST00000540052.1_Missense_Mutation_p.D733Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.D733Y|BCORL1_ENST00000303743.5_Missense_Mutation_p.D733Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	733					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D733N(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTGAACAAAGACCCCAACCT	0.597																																						ENST00000540052.1																			1	Substitution - Missense(1)	p.D733N(1)	lung(1)	breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2197-2199)Gac>Tac		BCL6 corepressor-like 1							97.0	79.0	85.0					X																	129148945		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148945G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2197G>T	X.37:g.129148945G>T	ENSP00000218147:p.Asp733Tyr					BCORL1_ENST00000303743.5_Missense_Mutation_p.D733Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.D733Y|BCORL1_ENST00000218147.7_Missense_Mutation_p.D733Y	p.D733Y	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	2241	+			733					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.2197G>T	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.14|17.14	3.314462|3.314462	0.60524|0.60524	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.61859|.	0.09;0.5;0.07;0.09;0.54|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.194116|.	0.25285|.	N|.	0.031772|.	T|T	0.58991|0.58991	0.2161|0.2161	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.76575|.	0.988;0.915|.	T|T	0.54977|0.54977	-0.8212|-0.8212	10|5	0.66056|.	D|.	0.02|.	-5.0121|-5.0121	18.0781|18.0781	0.89433|0.89433	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	733;733|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	Y|I	733;733;733;733;333|168	ENSP00000218147:D733Y;ENSP00000307541:D733Y;ENSP00000352253:D733Y;ENSP00000437775:D733Y;ENSP00000399483:D333Y|.	ENSP00000218147:D733Y|.	D|R	+|+	1|2	0|0	BCORL1|BCORL1	128976626|128976626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.674000|8.674000	0.91191|0.91191	2.205000|2.205000	0.71048|0.71048	0.436000|0.436000	0.28706|0.28706	GAC|AGA		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		30	55	1	0	1.32181e-22	1	1.84065e-22	30	55				
MAT2B	27430	broad.mit.edu	37	5	162945299	162945299	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162945299G>A	ENST00000321757.6	+	7	1074	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	MAT2B_ENST00000280969.5_Missense_Mutation_p.R301Q|MAT2B_ENST00000521838.2_3'UTR|MAT2B_ENST00000518095.1_3'UTR	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	312					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)	p.R301Q(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	ACACCATTTCGAATTGGAATC	0.423																																						ENST00000280969.5																			1	Substitution - Missense(1)	p.R301Q(1)	large_intestine(1)	endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14						c.(901-903)cGa>cAa		methionine adenosyltransferase II, beta	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						99.0	93.0	95.0					5																	162945299		2203	4300	6503	SO:0001583	missense	27430				extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	g.chr5:162945299G>A	AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.935G>A	5.37:g.162945299G>A	ENSP00000325425:p.Arg312Gln					MAT2B_ENST00000518731.1_3'UTR|MAT2B_ENST00000521838.1_3'UTR|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000321757.6_Missense_Mutation_p.R312Q	p.R301Q	NM_182796.1	NP_877725.1	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	7	1183	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	312					B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Missense_Mutation	SNP	ENST00000321757.6	37	c.902G>A	CCDS4365.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966825	0.34659	.	.	ENSG00000038274	ENST00000280969;ENST00000321757;ENST00000415433	T;T	0.48522	0.81;0.81	5.89	4.12	0.48240	.	0.228482	0.34959	N	0.003558	T	0.25865	0.0630	N	0.22421	0.69	0.80722	D	1	P;P	0.44344	0.833;0.799	B;B	0.22753	0.041;0.025	T	0.03641	-1.1017	10	0.34782	T	0.22	.	12.8747	0.57984	0.1198:0.0:0.8802:0.0	.	312;301	Q9NZL9;Q9NZL9-2	MAT2B_HUMAN;.	Q	301;312;206	ENSP00000280969:R301Q;ENSP00000325425:R312Q	ENSP00000280969:R301Q	R	+	2	0	MAT2B	162877877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.007000	0.63984	0.833000	0.34828	0.655000	0.94253	CGA		0.423	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283		13	21	0	0	0	1	0	13	21				
OR7A10	390892	broad.mit.edu	37	19	14952650	14952650	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14952650G>T	ENST00000248058.1	-	1	39	c.40C>A	c.(40-42)Ctc>Atc	p.L14I		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ATTCCCAGGAGAAGAAATTCT	0.443																																						ENST00000248058.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(40-42)Ctc>Atc		olfactory receptor, family 7, subfamily A, member 10							51.0	54.0	53.0					19																	14952650		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952650G>T		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.40C>A	19.37:g.14952650G>T	ENSP00000248058:p.Leu14Ile						p.L14I	NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN			1	39	-	Ovarian(108;0.203)		14					Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.40C>A	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	g	16.61	3.171754	0.57584	.	.	ENSG00000127515	ENST00000248058	T	0.00561	6.59	2.74	2.74	0.32292	.	0.000000	0.34110	U	0.004252	T	0.01730	0.0055	M	0.80422	2.495	0.09310	N	1	D	0.67145	0.996	D	0.79108	0.992	T	0.25710	-1.0124	10	0.87932	D	0	.	7.1446	0.25575	0.0:0.0:0.7327:0.2672	.	14	O76100	OR7AA_HUMAN	I	14	ENSP00000248058:L14I	ENSP00000248058:L14I	L	-	1	0	OR7A10	14813650	.	.	0.043000	0.18650	0.446000	0.32137	.	.	1.567000	0.49668	0.420000	0.28162	CTC		0.443	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		26	43	1	0	2.41591e-17	1	3.2383e-17	26	43				
CHD4	1108	broad.mit.edu	37	12	6709138	6709138	+	Nonsense_Mutation	SNP	G	G	T	rs147387698		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6709138G>T	ENST00000357008.2	-	10	1446	c.1283C>A	c.(1282-1284)tCg>tAg	p.S428*	CHD4_ENST00000544484.1_Nonsense_Mutation_p.S425*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.S428*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.S421*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	428					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CTCACCCTCCGAATTGTCCTC	0.547																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(1282-1284)tCg>tAg		chromodomain helicase DNA binding protein 4							230.0	234.0	232.0					12																	6709138		2203	4300	6503	SO:0001587	stop_gained	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6709138G>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1283C>A	12.37:g.6709138G>T	ENSP00000349508:p.Ser428*					CHD4_ENST00000544040.1_Nonsense_Mutation_p.S421*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.S425*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.S428*	p.S428*			Q14839	CHD4_HUMAN			10	1446	-			428					Q8IXZ5	Nonsense_Mutation	SNP	ENST00000357008.2	37	c.1283C>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	37	6.249598	0.97412	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2178	10.5346	0.44996	0.0895:0.0:0.9105:0.0	.	.	.	.	X	425;421;428;428;402	.	ENSP00000312419:S428X	S	-	2	0	CHD4	6579399	1.000000	0.71417	0.948000	0.38648	0.956000	0.61745	8.881000	0.92415	2.269000	0.75478	0.563000	0.77884	TCG		0.547	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		123	183	1	0	1.30956e-91	1	1.90374e-91	123	183				
PNMA3	29944	broad.mit.edu	37	X	152226514	152226514	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152226514C>A	ENST00000370264.4	+	1	1128	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	PNMA3_ENST00000447306.1_Missense_Mutation_p.L368I|PNMA3_ENST00000370265.4_Missense_Mutation_p.L368I			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	368					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGTACCTCTCCCTGCCTC	0.637																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(1102-1104)Ctc>Atc		paraneoplastic Ma antigen 3							26.0	29.0	28.0					X																	152226514		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226514C>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1102C>A	X.37:g.152226514C>A	ENSP00000359286:p.Leu368Ile					PNMA3_ENST00000370265.4_Missense_Mutation_p.L368I|PNMA3_ENST00000370264.4_Missense_Mutation_p.L368I	p.L368I	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	1438	+	Acute lymphoblastic leukemia(192;6.56e-05)		368					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.1102C>A	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	c	1.656	-0.512776	0.04200	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.15718	2.41;2.4;2.4	2.06	-0.00728	0.14010	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41233	-0.9520	9	0.19147	T	0.46	.	3.3411	0.07119	0.0:0.2459:0.4269:0.3272	.	368	Q9UL41	PNMA3_HUMAN	I	368	ENSP00000359288:L368I;ENSP00000407642:L368I;ENSP00000359286:L368I	ENSP00000359286:L368I	L	+	1	0	PNMA3	151977170	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.383000	0.07398	-0.081000	0.12662	-0.612000	0.04053	CTC		0.637	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		10	60	1	0	7.48243e-07	1	8.49459e-07	10	60				
ICOSLG	23308	broad.mit.edu	37	21	45658337	45658337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45658337G>A	ENST00000407780.3	-	2	176	c.49C>T	c.(49-51)Cga>Tga	p.R17*	ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R17*	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	17					B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.R17*(1)		endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TTACCAGCTCGAAGGCTGCTG	0.607																																						ENST00000407780.3																			1	Substitution - Nonsense(1)	p.R17*(1)	endometrium(1)	endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(49-51)Cga>Tga		inducible T-cell co-stimulator ligand							37.0	42.0	41.0					21																	45658337		1907	4113	6020	SO:0001587	stop_gained	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45658337G>A	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.49C>T	21.37:g.45658337G>A	ENSP00000384432:p.Arg17*					ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R17*	p.R17*			O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	2	176	-			17					A8MUZ1|Q9HD18|Q9NRQ1	Nonsense_Mutation	SNP	ENST00000407780.3	37	c.49C>T	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844451	0.51164	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379;ENST00000400377	.	.	.	3.33	2.42	0.29668	.	1.298300	0.05591	N	0.574589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	5.8348	0.18601	0.151:0.0:0.849:0.0	.	.	.	.	X	17	.	ENSP00000339477:R17X	R	-	1	2	ICOSLG	44482765	0.257000	0.24022	0.114000	0.21550	0.057000	0.15508	0.260000	0.18424	0.950000	0.37743	0.591000	0.81541	CGA		0.607	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		5	34	0	0	0	1	0	5	34				
MYO7B	4648	broad.mit.edu	37	2	128347738	128347738	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:128347738A>C	ENST00000409816.2	+	15	1958	c.1926A>C	c.(1924-1926)aaA>aaC	p.K642N	MYO7B_ENST00000428314.1_Missense_Mutation_p.K642N|MYO7B_ENST00000389524.4_Missense_Mutation_p.K642N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	642	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCTGATGAAAATCCTGACCA	0.512																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(1924-1926)aaA>aaC		myosin VIIB							56.0	57.0	57.0					2																	128347738		1953	4139	6092	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128347738A>C		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1926A>C	2.37:g.128347738A>C	ENSP00000386461:p.Lys642Asn					MYO7B_ENST00000428314.1_Missense_Mutation_p.K642N|MYO7B_ENST00000409816.2_Missense_Mutation_p.K642N	p.K642N			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	16	1979	+	Colorectal(110;0.1)		642			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.1926A>C	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	a	15.50	2.852413	0.51270	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.71934	-0.61;-0.61;-0.61	5.39	4.22	0.49857	Myosin head, motor domain (2);	0.132074	0.48767	D	0.000167	T	0.78349	0.4269	L	0.49699	1.58	0.42271	D	0.992059	D	0.76494	0.999	D	0.73708	0.981	T	0.76716	-0.2857	10	0.39692	T	0.17	.	12.5837	0.56406	0.8611:0.1389:0.0:0.0	.	642	Q6PIF6	MYO7B_HUMAN	N	642	ENSP00000374175:K642N;ENSP00000415090:K642N;ENSP00000386461:K642N	ENSP00000374175:K642N	K	+	3	2	MYO7B	128064208	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	1.376000	0.34306	0.886000	0.36113	0.450000	0.29827	AAA		0.512	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		11	21	0	0	0	1	0	11	21				
MYH2	4620	broad.mit.edu	37	17	10447242	10447242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10447242C>A	ENST00000245503.5	-	7	1009	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	MYH2_ENST00000532183.2_Nonsense_Mutation_p.E209*|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E209*|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	209	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAAGTAATTTCTTCCTTCTTC	0.458																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(625-627)Gaa>Taa		myosin, heavy chain 2, skeletal muscle, adult							102.0	94.0	96.0					17																	10447242		2203	4300	6503	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10447242C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.625G>T	17.37:g.10447242C>A	ENSP00000245503:p.Glu209*					MYH2_ENST00000532183.1_Nonsense_Mutation_p.E209*|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E209*|CTC-297N7.7_ENST00000587182.1_RNA	p.E209*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			7	1009	-			209			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.625G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836770	0.32421	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	.	.	.	4.74	4.74	0.60224	.	0.000000	0.39759	U	0.001279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	17.2627	0.87075	0.0:1.0:0.0:0.0	.	.	.	.	X	209	.	ENSP00000245503:E209X	E	-	1	0	MYH2	10387967	0.928000	0.31464	0.977000	0.42913	0.408000	0.30992	3.944000	0.56629	2.621000	0.88768	0.655000	0.94253	GAA		0.458	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		22	38	1	0	8.10497e-08	1	9.43176e-08	22	38				
RNASE10	338879	broad.mit.edu	37	14	20979224	20979224	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20979224A>C	ENST00000328444.5	+	1	613	c.594A>C	c.(592-594)aaA>aaC	p.K198N	RNASE10_ENST00000430083.1_Missense_Mutation_p.K226N	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	198					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTGTTATAAAAAAGCACATTA	0.413																																						ENST00000430083.1																			0				endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12						c.(676-678)aaA>aaC		ribonuclease, RNase A family, 10 (non-active)							48.0	48.0	48.0					14																	20979224		2203	4300	6503	SO:0001583	missense	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20979224A>C		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.594A>C	14.37:g.20979224A>C	ENSP00000333358:p.Lys198Asn					RNASE10_ENST00000328444.5_Missense_Mutation_p.K198N	p.K226N			Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	2	1082	+	all_cancers(95;0.00123)		198					A2RUQ3|B4DKY4	Missense_Mutation	SNP	ENST00000328444.5	37	c.678A>C	CCDS32035.1	.	.	.	.	.	.	.	.	.	.	A	6.008	0.369815	0.11352	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.72505	-0.66;-0.66	4.71	1.03	0.20045	Ribonuclease A, domain (3);	0.854936	0.10330	N	0.687736	T	0.46308	0.1386	N	0.03983	-0.305	0.09310	N	1	P;P	0.37914	0.611;0.611	B;B	0.40165	0.321;0.321	T	0.34850	-0.9812	10	0.33141	T	0.24	-18.7292	6.4944	0.22133	0.7053:0.0:0.2947:0.0	.	198;226	Q5GAN6;B4DKY4	RNS10_HUMAN;.	N	226;198	ENSP00000392996:K226N;ENSP00000333358:K198N	ENSP00000333358:K198N	K	+	3	2	RNASE10	20049064	0.980000	0.34600	0.136000	0.22124	0.017000	0.09413	1.031000	0.30165	0.078000	0.16900	0.533000	0.62120	AAA		0.413	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225		15	19	0	0	0	1	0	15	19				
ITGA9	3680	broad.mit.edu	37	3	37821468	37821468	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37821468A>G	ENST00000264741.5	+	25	2999	c.2743A>G	c.(2743-2745)Act>Gct	p.T915A	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	915					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGAAAGTCGTACTATAGACAT	0.373																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(2743-2745)Act>Gct		integrin, alpha 9							114.0	114.0	114.0					3																	37821468		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37821468A>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2743A>G	3.37:g.37821468A>G	ENSP00000264741:p.Thr915Ala					AC093415.2_ENST00000438136.1_RNA	p.T915A	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	25	2999	+			915					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.2743A>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.778254	0.31502	.	.	ENSG00000144668	ENST00000264741	T	0.48836	0.8	5.91	0.412	0.16397	.	0.321128	0.37136	N	0.002228	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.08066	-1.0740	10	0.26408	T	0.33	.	2.7221	0.05204	0.62:0.1239:0.1369:0.1192	.	915	Q13797	ITA9_HUMAN	A	915	ENSP00000264741:T915A	ENSP00000264741:T915A	T	+	1	0	ITGA9	37796472	0.888000	0.30383	0.009000	0.14445	0.998000	0.95712	3.373000	0.52394	0.114000	0.18032	0.533000	0.62120	ACT		0.373	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		25	48	0	0	0	1	0	25	48				
TMEM31	203562	broad.mit.edu	37	X	102968693	102968693	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102968693G>A	ENST00000319560.6	+	3	465	c.274G>A	c.(274-276)Gag>Aag	p.E92K	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	92						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGCTCTTTTTGAGCTTTATCC	0.453																																						ENST00000319560.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						c.(274-276)Gag>Aag		transmembrane protein 31							276.0	213.0	234.0					X																	102968693		2203	4300	6503	SO:0001583	missense	203562					integral to membrane		g.chrX:102968693G>A	BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.274G>A	X.37:g.102968693G>A	ENSP00000316940:p.Glu92Lys					GLRA4_ENST00000372617.4_Intron	p.E92K	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN			3	465	+			92					Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	c.274G>A	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	G	8.197	0.797246	0.16327	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.81	2.08	0.27032	.	0.491581	0.15291	N	0.270143	T	0.16599	0.0399	N	0.08118	0	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.15178	-1.0446	9	0.45353	T	0.12	.	3.8061	0.08777	0.0:0.5559:0.2132:0.2309	.	92	Q5JXX7	TMM31_HUMAN	K	92	.	ENSP00000316940:E92K	E	+	1	0	TMEM31	102855349	0.895000	0.30542	0.074000	0.20217	0.006000	0.05464	0.407000	0.21049	0.547000	0.28938	-0.223000	0.12442	GAG		0.453	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		10	101	0	0	0	1	0	10	101				
CD200R1L	344807	broad.mit.edu	37	3	112545866	112545866	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112545866T>G	ENST00000398214.1	-	4	878	c.653A>C	c.(652-654)aAg>aCg	p.K218T	CD200R1L_ENST00000448932.1_Missense_Mutation_p.K197T|CD200R1L_ENST00000488794.1_Missense_Mutation_p.K197T	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	218	Ig-like C2-type.					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						GGACAGACTCTTGTTGCCAGT	0.453																																						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.(589-591)aAg>aCg		CD200 receptor 1-like							66.0	70.0	69.0					3																	112545866		2198	4299	6497	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112545866T>G	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.653A>C	3.37:g.112545866T>G	ENSP00000381272:p.Lys218Thr					CD200R1L_ENST00000398214.1_Missense_Mutation_p.K218T|CD200R1L_ENST00000448932.1_Missense_Mutation_p.K197T	p.K197T			Q6Q8B3	MO2R2_HUMAN			6	1179	-			218			Ig-like C2-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.590A>C	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652783	0.67472	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.19669	2.13;2.14;2.14	4.35	-5.23	0.02798	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.102810	0.06756	N	0.780925	T	0.32406	0.0828	M	0.72479	2.2	0.09310	N	1	D	0.57571	0.98	P	0.55577	0.779	T	0.43589	-0.9382	10	0.51188	T	0.08	.	7.651	0.28348	0.0:0.5737:0.1369:0.2894	.	218	Q6Q8B3	MO2R2_HUMAN	T	218;197;197	ENSP00000381272:K218T;ENSP00000418413:K197T;ENSP00000415132:K197T	ENSP00000381272:K218T	K	-	2	0	CD200R1L	114028556	0.000000	0.05858	0.020000	0.16555	0.550000	0.35303	-1.397000	0.02511	-0.792000	0.04480	-0.290000	0.09829	AAG		0.453	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		25	50	0	0	0	1	0	25	50				
ARHGEF11	9826	broad.mit.edu	37	1	157014242	157014242	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:157014242C>A	ENST00000361409.2	-	0	623				ARHGEF11_ENST00000368194.3_De_novo_Start_OutOfFrame	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGATAGAATCCTTTCTCCTCC	0.498																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81								Rho guanine nucleotide exchange factor (GEF) 11																																						9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:157014242C>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.-120G>T	1.37:g.157014242C>A						ARHGEF11_ENST00000361409.2_De_novo_Start_OutOfFrame		NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			0	920	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							D3DVD0|Q5VY40|Q6PFW2	Translation_Start_Site	SNP	ENST00000361409.2	37		CCDS1162.1																																																																																				0.498	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		3	8	1	0	0.004672	1	0.00483628	3	8				
VEPH1	79674	broad.mit.edu	37	3	157177906	157177906	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:157177906C>A	ENST00000362010.2	-	4	837				VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000468233.1_Missense_Mutation_p.S198I|VEPH1_ENST00000494677.1_Missense_Mutation_p.S198I	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1							plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACCATAAATGCTTGATGAAAA	0.378																																						ENST00000494677.1																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(592-594)aGc>aTc		ventricular zone expressed PH domain-containing 1							156.0	136.0	142.0					3																	157177906		692	1591	2283	SO:0001627	intron_variant	79674					plasma membrane		g.chr3:157177906C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.529+63G>T	3.37:g.157177906C>A						VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000468233.1_Missense_Mutation_p.S198I|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron	p.S198I	NM_001167915.1	NP_001161387.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		5	1115	-			0					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.593G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	5.537	0.283927	0.10458	.	.	ENSG00000197415	ENST00000494677;ENST00000468233	.	.	.	4.2	-5.64	0.02466	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.26538	-1.0100	7	0.66056	D	0.02	.	2.7166	0.05189	0.1284:0.2302:0.1265:0.5149	.	198	Q14D04-3	.	I	198	.	ENSP00000417268:S198I	S	-	2	0	VEPH1	158660600	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.362000	0.02595	-1.091000	0.03065	-0.736000	0.03550	AGC		0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		13	41	1	0	7.03913e-09	1	8.36985e-09	13	41				
ZNF317	57693	broad.mit.edu	37	19	9271130	9271130	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9271130G>T	ENST00000247956.6	+	7	1114	c.809G>T	c.(808-810)aGa>aTa	p.R270I	ZNF317_ENST00000360385.3_Missense_Mutation_p.R238I	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGCCACGCAAGAACTCACCTC	0.567																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(808-810)aGa>aTa		zinc finger protein 317							81.0	80.0	80.0					19																	9271130		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271130G>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.809G>T	19.37:g.9271130G>T	ENSP00000247956:p.Arg270Ile					ZNF317_ENST00000360385.3_Missense_Mutation_p.R238I	p.R270I	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1114	+			270					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.809G>T	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965793	0.53507	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.24908	1.83;1.83	3.61	1.46	0.22682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000464	T	0.39462	0.1079	M	0.71296	2.17	0.09310	N	0.999996	D;D	0.71674	0.998;0.997	P;P	0.62560	0.904;0.805	T	0.10520	-1.0626	10	0.59425	D	0.04	-28.8422	5.8059	0.18440	0.3427:0.0:0.6573:0.0	.	238;270	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	I	270;238	ENSP00000247956:R270I;ENSP00000353554:R238I	ENSP00000247956:R270I	R	+	2	0	ZNF317	9132130	0.001000	0.12720	0.002000	0.10522	0.788000	0.44548	1.021000	0.30040	0.522000	0.28464	0.591000	0.81541	AGA		0.567	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		40	66	1	0	1.47197e-15	1	1.94065e-15	40	66				
ANO4	121601	broad.mit.edu	37	12	101413875	101413875	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101413875C>A	ENST00000392977.3	+	9	1008	c.798C>A	c.(796-798)caC>caA	p.H266Q	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.H231Q			Q32M45	ANO4_HUMAN	anoctamin 4	266					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCGTGCATCACATTTTACAAA	0.299										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(691-693)caC>caA		anoctamin 4							72.0	73.0	73.0					12																	101413875		2203	4299	6502	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101413875C>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.798C>A	12.37:g.101413875C>A	ENSP00000376703:p.His266Gln	HNSCC(74;0.22)				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.H266Q|ANO4_ENST00000538618.1_3'UTR	p.H231Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			8	1054	+			266					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.693C>A		.	.	.	.	.	.	.	.	.	.	C	17.76	3.468929	0.63625	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.66099	-0.19;-0.19	5.69	-1.72	0.08107	.	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	L	0.31752	0.955	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.83275	0.841;0.996	T	0.56643	-0.7945	10	0.13470	T	0.59	.	10.7996	0.46480	0.0:0.4201:0.0:0.5799	.	266;231	Q32M45;Q32M45-2	ANO4_HUMAN;.	Q	231;266	ENSP00000376705:H231Q;ENSP00000376703:H266Q	ENSP00000376703:H266Q	H	+	3	2	ANO4	99938006	0.970000	0.33590	0.996000	0.52242	0.983000	0.72400	0.035000	0.13797	-0.238000	0.09724	-0.225000	0.12378	CAC		0.299	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		13	24	1	0	2.32078e-09	1	2.7896e-09	13	24				
MMP13	4322	broad.mit.edu	37	11	102815028	102815028	+	Silent	SNP	G	G	A	rs374512736		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102815028G>A	ENST00000260302.3	-	10	1411	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R		NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	461	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	CTGGCATGACGCGAACAATAC	0.358																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1381-1383)cgC>cgT		matrix metallopeptidase 13 (collagenase 3)		G		0,4404		0,0,2202	137.0	150.0	146.0		1383	-12.0	0.2	11		146	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	MMP13	NM_002427.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		461/472	102815028	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102815028G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1383C>T	11.37:g.102815028G>A							p.R461R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	10	1411	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	461			Hemopexin-like 4.		A8K846|B2RCZ3|Q6NWN6	Silent	SNP	ENST00000260302.3	37	c.1383C>T	CCDS8324.1																																																																																				0.358	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		18	159	0	0	0	1	0	18	159				
NDST4	64579	broad.mit.edu	37	4	115792003	115792003	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:115792003T>G	ENST00000264363.2	-	7	2318	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	547	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTTTGCAATTTCAGGTTGGT	0.443																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1639-1641)aAa>aCa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							95.0	104.0	101.0					4																	115792003		2203	4299	6502	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115792003T>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1640A>C	4.37:g.115792003T>G	ENSP00000264363:p.Lys547Thr						p.K547T	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	7	2318	-		Ovarian(17;0.156)	547			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1640A>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.241633	0.39598	.	.	ENSG00000138653	ENST00000264363	T	0.40225	1.04	5.1	0.453	0.16639	.	0.769510	0.12392	N	0.472941	T	0.48804	0.1520	M	0.77103	2.36	0.09310	N	0.999999	B	0.22851	0.076	B	0.34452	0.183	T	0.53337	-0.8453	10	0.87932	D	0	.	11.5025	0.50446	0.0:0.5034:0.0:0.4966	.	547	Q9H3R1	NDST4_HUMAN	T	547	ENSP00000264363:K547T	ENSP00000264363:K547T	K	-	2	0	NDST4	116011452	0.287000	0.24315	0.049000	0.19019	0.982000	0.71751	0.606000	0.24194	-0.299000	0.08909	0.459000	0.35465	AAA		0.443	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		21	32	0	0	0	1	0	21	32				
CAPN6	827	broad.mit.edu	37	X	110496278	110496278	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:110496278A>G	ENST00000324068.1	-	4	631	c.464T>C	c.(463-465)aTg>aCg	p.M155T	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	155	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AAACTCATTCATGGAAGTGGA	0.433																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(463-465)aTg>aCg		calpain 6							128.0	108.0	115.0					X																	110496278		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110496278A>G	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.464T>C	X.37:g.110496278A>G	ENSP00000317214:p.Met155Thr					CAPN6_ENST00000541758.1_5'UTR	p.M155T	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			4	631	-			155			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.464T>C	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	A	7.299	0.612563	0.14066	.	.	ENSG00000077274	ENST00000324068	T	0.39229	1.09	5.21	5.21	0.72293	Peptidase C2, calpain, catalytic domain (3);	0.198358	0.52532	D	0.000075	T	0.13157	0.0319	N	0.01048	-1.04	0.80722	D	1	B	0.15141	0.012	B	0.06405	0.002	T	0.12656	-1.0539	10	0.21014	T	0.42	.	5.019	0.14352	0.4829:0.2442:0.0:0.2729	.	155	Q9Y6Q1	CAN6_HUMAN	T	155	ENSP00000317214:M155T	ENSP00000317214:M155T	M	-	2	0	CAPN6	110382934	0.938000	0.31826	1.000000	0.80357	0.981000	0.71138	0.709000	0.25734	1.930000	0.55929	0.486000	0.48141	ATG		0.433	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			28	45	0	0	0	1	0	28	45				
GPR63	81491	broad.mit.edu	37	6	97246800	97246800	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:97246800G>A	ENST00000229955.3	-	2	1153	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	GPR63_ENST00000417980.1_Missense_Mutation_p.R270W	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCATTGTGCCGAAGGGTGTTG	0.468																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(808-810)Cgg>Tgg		G protein-coupled receptor 63							97.0	98.0	98.0					6																	97246800		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246800G>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.808C>T	6.37:g.97246800G>A	ENSP00000229955:p.Arg270Trp					GPR63_ENST00000417980.1_Missense_Mutation_p.R270W	p.R270W	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1153	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	270					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.808C>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230956	0.79688	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.41400	1.0;1.0;1.0	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69935	-0.5010	10	0.87932	D	0	-8.3633	19.0987	0.93265	0.0:0.0:1.0:0.0	.	270	Q9BZJ6	GPR63_HUMAN	W	294;270;270;270	ENSP00000393170:R270W;ENSP00000229955:R270W;ENSP00000358273:R270W	ENSP00000229955:R270W	R	-	1	2	GPR63	97353521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.558000	0.82253	2.595000	0.87683	0.650000	0.86243	CGG		0.468	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			38	83	0	0	0	1	0	38	83				
IMPG2	50939	broad.mit.edu	37	3	101038599	101038599	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101038599C>A	ENST00000193391.7	-	2	350	c.163G>T	c.(163-165)Gac>Tac	p.D55Y		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	55					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AGAGAAAGGTCTGTTGATTCT	0.423																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(163-165)Gac>Tac		interphotoreceptor matrix proteoglycan 2							119.0	125.0	123.0					3																	101038599		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101038599C>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.163G>T	3.37:g.101038599C>A	ENSP00000193391:p.Asp55Tyr						p.D55Y	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			2	350	-			55					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.163G>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561774	0.45590	.	.	ENSG00000081148	ENST00000193391	T	0.24723	1.84	5.64	3.82	0.43975	.	0.513050	0.20377	N	0.093532	T	0.22282	0.0537	L	0.60455	1.87	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.26538	-1.0100	10	0.72032	D	0.01	-3.0726	3.6937	0.08355	0.2269:0.604:0.0:0.1691	.	55	Q9BZV3	IMPG2_HUMAN	Y	55	ENSP00000193391:D55Y	ENSP00000193391:D55Y	D	-	1	0	IMPG2	102521289	0.012000	0.17670	0.117000	0.21633	0.771000	0.43674	2.005000	0.40864	1.362000	0.46000	0.563000	0.77884	GAC		0.423	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			7	83	1	0	5.18039e-06	1	5.75679e-06	7	83				
IL36B	27177	broad.mit.edu	37	2	113783740	113783740	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113783740T>G	ENST00000259213.4	-	5	438	c.331A>C	c.(331-333)Aac>Cac	p.N111H		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	111					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						acatccaggtttatgcatgtg	0.473																																						ENST00000259213.4																			0				kidney(1)|ovary(1)|pancreas(1)	3						c.(331-333)Aac>Cac		interleukin 36, beta							192.0	165.0	174.0					2																	113783740		2203	4300	6503	SO:0001583	missense	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113783740T>G	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.331A>C	2.37:g.113783740T>G	ENSP00000259213:p.Asn111His						p.N111H	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN			5	438	-			111					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	c.331A>C	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	t	12.82	2.051682	0.36181	.	.	ENSG00000136696	ENST00000259213	T	0.18338	2.22	2.61	-5.22	0.02806	.	3.114840	0.01362	U	0.012288	T	0.12817	0.0311	L	0.34521	1.04	0.09310	N	0.999999	B	0.22541	0.071	B	0.22152	0.038	T	0.31364	-0.9946	10	0.87932	D	0	.	4.8758	0.13655	0.0:0.3587:0.3673:0.2741	.	111	Q9NZH7	IL36B_HUMAN	H	111	ENSP00000259213:N111H	ENSP00000259213:N111H	N	-	1	0	IL36B	113500211	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.548000	0.02184	-1.216000	0.02607	-0.386000	0.06593	AAC		0.473	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		12	29	0	0	0	1	0	12	29				
KLHL41	10324	broad.mit.edu	37	2	170367292	170367292	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170367292G>T	ENST00000284669.1	+	1	1081	c.1004G>T	c.(1003-1005)aGa>aTa	p.R335I	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	335					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CAGATTCCCAGAAATCATTCC	0.428																																						ENST00000284669.1																			0											c.(1003-1005)aGa>aTa		kelch-like family member 41							112.0	110.0	111.0					2																	170367292		2203	4300	6503	SO:0001583	missense	10324							g.chr2:170367292G>T	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1004G>T	2.37:g.170367292G>T	ENSP00000284669:p.Arg335Ile					RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	p.R335I	NM_006063.2	NP_006054.2					1	1081	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1004G>T	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114112	0.77210	.	.	ENSG00000239474	ENST00000284669	T	0.73258	-0.73	5.47	5.47	0.80525	Kelch-type beta propeller (1);	0.046101	0.85682	D	0.000000	T	0.72835	0.3510	L	0.50333	1.59	0.80722	D	1	P	0.49696	0.927	P	0.46543	0.52	T	0.76686	-0.2868	10	0.87932	D	0	.	19.3323	0.94295	0.0:0.0:1.0:0.0	.	335	O60662	KBTBA_HUMAN	I	335	ENSP00000284669:R335I	ENSP00000284669:R335I	R	+	2	0	KBTBD10	170075538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.824000	0.75288	2.568000	0.86640	0.467000	0.42956	AGA		0.428	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		30	53	1	0	3.1745e-13	1	4.05871e-13	30	53				
CDADC1	81602	broad.mit.edu	37	13	49841919	49841919	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49841919T>A	ENST00000251108.6	+	5	837	c.724T>A	c.(724-726)Tta>Ata	p.L242I	CDADC1_ENST00000444959.1_Missense_Mutation_p.L44I	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	242							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATATGAAATGTTATTTTTGGT	0.289																																						ENST00000251108.6																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.(724-726)Tta>Ata		cytidine and dCMP deaminase domain containing 1							46.0	46.0	46.0					13																	49841919		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49841919T>A	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.724T>A	13.37:g.49841919T>A	ENSP00000251108:p.Leu242Ile					CDADC1_ENST00000444959.1_Missense_Mutation_p.L44I	p.L242I	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	5	837	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	242					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.724T>A	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.116885	0.37339	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	.	.	.	5.53	-6.56	0.01848	.	0.678936	0.14405	N	0.321605	T	0.14399	0.0348	N	0.19112	0.55	0.22787	N	0.998735	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.08330	-1.0727	9	0.42905	T	0.14	-0.7634	1.0152	0.01505	0.4075:0.1887:0.101:0.3028	.	242;242	Q9BWV3;B2R742	CDAC1_HUMAN;.	I	242;44	.	ENSP00000251108:L242I	L	+	1	2	CDADC1	48739920	0.996000	0.38824	0.654000	0.29608	0.947000	0.59692	0.257000	0.18369	-1.280000	0.02402	-0.301000	0.09380	TTA		0.289	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		6	15	0	0	0	1	0	6	15				
INTS8	55656	broad.mit.edu	37	8	95884164	95884164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95884164C>T	ENST00000523731.1	+	21	2600	c.2467C>T	c.(2467-2469)Cga>Tga	p.R823*	INTS8_ENST00000447247.1_Nonsense_Mutation_p.R823*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	823					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGAGCTAGTTCGATATACACT	0.348																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(2467-2469)Cga>Tga		integrator complex subunit 8							118.0	110.0	112.0					8																	95884164		2203	4300	6503	SO:0001587	stop_gained	55656				snRNA processing	integrator complex	protein binding	g.chr8:95884164C>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2467C>T	8.37:g.95884164C>T	ENSP00000430338:p.Arg823*					INTS8_ENST00000447247.1_Nonsense_Mutation_p.R823*	p.R823*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			21	2600	+	Breast(36;1.05e-06)		823					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Nonsense_Mutation	SNP	ENST00000523731.1	37	c.2467C>T	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	C	36	5.628828	0.96671	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	.	.	.	5.57	5.57	0.84162	.	0.262270	0.41396	D	0.000882	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-16.9947	12.961	0.58458	0.2661:0.7339:0.0:0.0	.	.	.	.	X	823	.	ENSP00000398203:R823X	R	+	1	2	INTS8	95953340	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	4.854000	0.62918	2.785000	0.95823	0.591000	0.81541	CGA		0.348	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		16	30	0	0	0	1	0	16	30				
ZNF443	10224	broad.mit.edu	37	19	12541287	12541287	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12541287T>G	ENST00000301547.5	-	4	1896	c.1699A>C	c.(1699-1701)Aaa>Caa	p.K567Q	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	567					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GAGAATGCTTTCCCACATTCC	0.393																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1699-1701)Aaa>Caa		zinc finger protein 443							94.0	95.0	94.0					19																	12541287		2203	4297	6500	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541287T>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1699A>C	19.37:g.12541287T>G	ENSP00000301547:p.Lys567Gln					CTD-3105H18.16_ENST00000595562.1_Intron	p.K567Q	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1896	-			567						Missense_Mutation	SNP	ENST00000301547.5	37	c.1699A>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667302	0.47677	.	.	ENSG00000180855	ENST00000301547	T	0.27256	1.68	1.37	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37999	0.1024	M	0.89968	3.075	0.29029	N	0.885798	P	0.49862	0.929	P	0.44772	0.46	T	0.43523	-0.9386	9	0.72032	D	0.01	.	8.1902	0.31363	0.0:0.0:0.0:1.0	.	567	Q9Y2A4	ZN443_HUMAN	Q	567	ENSP00000301547:K567Q	ENSP00000301547:K567Q	K	-	1	0	ZNF443	12402287	0.417000	0.25432	0.021000	0.16686	0.087000	0.18053	3.561000	0.53770	0.893000	0.36288	0.378000	0.23410	AAA		0.393	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		15	65	0	0	0	1	0	15	65				
KCNK10	54207	broad.mit.edu	37	14	88789139	88789139	+	Intron	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88789139T>G	ENST00000340700.5	-	1	489				KCNK10_ENST00000319231.5_Missense_Mutation_p.K2Q	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10						signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						attggaaatttcattgcttcg	0.473																																						ENST00000319231.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(4-6)Aaa>Caa		potassium channel, subfamily K, member 10							182.0	156.0	165.0					14																	88789139		2203	4300	6503	SO:0001627	intron_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88789139T>G	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.37+3623A>C	14.37:g.88789139T>G						KCNK10_ENST00000340700.5_Intron	p.K2Q	NM_138317.2	NP_612190.1	P57789	KCNKA_HUMAN			1	454	-			0					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.4A>C	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.760942	0.69763	.	.	ENSG00000100433	ENST00000319231	D	0.92805	-3.11	4.58	4.58	0.56647	.	7739.210000	0.00659	U	0.000599	D	0.91945	0.7449	N	0.14661	0.345	0.28366	N	0.920215	P	0.51653	0.947	P	0.55965	0.788	D	0.83365	0.0004	10	0.87932	D	0	.	12.2008	0.54323	0.0:0.0:0.0:1.0	.	2	B2R8T4	.	Q	2	ENSP00000312811:K2Q	ENSP00000312811:K2Q	K	-	1	0	KCNK10	87858892	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.766000	0.62279	1.678000	0.50952	0.402000	0.26972	AAA		0.473	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		15	52	0	0	0	1	0	15	52				
ZNF621	285268	broad.mit.edu	37	3	40574146	40574146	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40574146G>A	ENST00000339296.5	+	5	1337	c.885G>A	c.(883-885)gaG>gaA	p.E295E	ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Silent_p.E295E|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Silent_p.E184E	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AATGTAAGGAGTGTGGCAAAG	0.423																																						ENST00000339296.5																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(883-885)gaG>gaA		zinc finger protein 621							69.0	73.0	72.0					3																	40574146		2203	4300	6503	SO:0001819	synonymous_variant	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40574146G>A	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.885G>A	3.37:g.40574146G>A						ZNF621_ENST00000403205.2_Silent_p.E295E|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Silent_p.E184E|ZNF621_ENST00000490457.1_Intron	p.E295E	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	1337	+			295					Q14DC7|Q8TE91	Silent	SNP	ENST00000339296.5	37	c.885G>A	CCDS2693.1																																																																																				0.423	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		20	45	0	0	0	1	0	20	45				
OR13C4	138804	broad.mit.edu	37	9	107289097	107289097	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107289097A>C	ENST00000277216.3	-	1	393	c.394T>G	c.(394-396)Tac>Gac	p.Y132D		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATGATGGGGTATCTCAGAGGG	0.453																																						ENST00000277216.3																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(394-396)Tac>Gac		olfactory receptor, family 13, subfamily C, member 4							156.0	131.0	140.0					9																	107289097		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289097A>C		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.394T>G	9.37:g.107289097A>C	ENSP00000277216:p.Tyr132Asp						p.Y132D	NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN			1	393	-			132					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.394T>G	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077796	0.55753	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.01947	4.54	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	U	0.000691	T	0.22166	0.0534	H	0.99261	4.49	0.38350	D	0.944309	D	0.64830	0.994	D	0.65233	0.933	T	0.47509	-0.9112	10	0.72032	D	0.01	.	11.6527	0.51299	1.0:0.0:0.0:0.0	.	132	Q8NGS5	O13C4_HUMAN	D	132;161	ENSP00000277216:Y132D	ENSP00000277216:Y132D	Y	-	1	0	OR13C4	106328918	1.000000	0.71417	0.963000	0.40424	0.505000	0.33919	7.116000	0.77119	1.893000	0.54813	0.477000	0.44152	TAC		0.453	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			20	97	0	0	0	1	0	20	97				
OR1L4	254973	broad.mit.edu	37	9	125486805	125486805	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125486805C>A	ENST00000259466.1	+	1	537	c.537C>A	c.(535-537)ttC>ttA	p.F179L		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGCACTTTTTCTGTGACACCC	0.507																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(535-537)ttC>ttA		olfactory receptor, family 1, subfamily L, member 4							184.0	183.0	183.0					9																	125486805		2202	4281	6483	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486805C>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.537C>A	9.37:g.125486805C>A	ENSP00000259466:p.Phe179Leu						p.F179L	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	537	+			179					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.537C>A	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	15.37	2.813113	0.50527	.	.	ENSG00000136939	ENST00000259466	T	0.00220	8.52	4.01	-0.832	0.10785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.00412	0.0013	M	0.76002	2.32	0.36584	D	0.873732	D	0.69078	0.997	D	0.80764	0.994	T	0.70557	-0.4839	10	0.72032	D	0.01	-26.08	9.6387	0.39826	0.0:0.6221:0.0:0.3779	.	179	Q8NGR5	OR1L4_HUMAN	L	179	ENSP00000259466:F179L	ENSP00000259466:F179L	F	+	3	2	OR1L4	124526626	0.998000	0.40836	0.998000	0.56505	0.860000	0.49131	0.596000	0.24044	-0.037000	0.13646	0.298000	0.19748	TTC		0.507	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			74	227	1	0	1.70349e-48	1	2.47193e-48	74	227				
GALC	2581	broad.mit.edu	37	14	88407879	88407879	+	Missense_Mutation	SNP	T	T	C	rs386779713		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88407879T>C	ENST00000261304.2	-	15	1800	c.1694A>G	c.(1693-1695)gAt>gGt	p.D565G	GALC_ENST00000393569.2_Missense_Mutation_p.D539G|GALC_ENST00000544807.2_Missense_Mutation_p.D509G|GALC_ENST00000393568.4_Missense_Mutation_p.D542G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	565					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TATGTATACATCACACTTTAT	0.373																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1693-1695)gAt>gGt		galactosylceramidase							134.0	122.0	126.0					14																	88407879		1838	4086	5924	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88407879T>C	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1694A>G	14.37:g.88407879T>C	ENSP00000261304:p.Asp565Gly					GALC_ENST00000393568.4_Missense_Mutation_p.D542G|GALC_ENST00000393569.2_Missense_Mutation_p.D539G|GALC_ENST00000544807.2_Missense_Mutation_p.D509G	p.D565G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			15	1800	-			565					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1694A>G	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318474	0.81469	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97801	0.9278	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.992;0.997;0.998	D	0.98794	1.0737	10	0.87932	D	0	-31.7254	16.0255	0.80541	0.0:0.0:0.0:1.0	.	509;542;539;565	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	G	565;509;539;354;542	ENSP00000261304:D565G;ENSP00000437513:D509G;ENSP00000377199:D539G;ENSP00000377198:D542G	ENSP00000261304:D565G	D	-	2	0	GALC	87477632	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.983000	0.88140	2.195000	0.70347	0.477000	0.44152	GAT		0.373	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			48	67	0	0	0	1	0	48	67				
OXR1	55074	broad.mit.edu	37	8	107691480	107691480	+	Missense_Mutation	SNP	G	G	A	rs541833758		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107691480G>A	ENST00000442977.2	+	3	365	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	OXR1_ENST00000497705.1_Missense_Mutation_p.R21Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R88Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000445937.1_Missense_Mutation_p.R88Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R81Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R88Q	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	89					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.R89Q(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GATGGAAGACGAATGTCTTTT	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		16014	0.0		0.0	False		,,,				2504	0.001					ENST00000445937.1																			1	Substitution - Missense(1)	p.R89Q(1)	lung(1)	NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(262-264)cGa>cAa		oxidation resistance 1							93.0	96.0	95.0					8																	107691480		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107691480G>A	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.266G>A	8.37:g.107691480G>A	ENSP00000405424:p.Arg89Gln					OXR1_ENST00000312046.6_Missense_Mutation_p.R81Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.R88Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R88Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R89Q|OXR1_ENST00000497705.1_Missense_Mutation_p.R21Q	p.R88Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		4	524	+			89					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.263G>A	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	G	36	5.743623	0.96873	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000517686;ENST00000497705;ENST00000312046	T;T;T;T;T;T;T	0.48836	2.3;2.3;2.32;2.32;0.8;1.3;2.24	5.95	5.95	0.96441	.	.	.	.	.	T	0.66626	0.2808	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.994;0.999;0.997	T	0.60530	-0.7245	9	0.38643	T	0.18	.	20.3818	0.98936	0.0:0.0:1.0:0.0	.	81;89;21;88	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.;OXR1_HUMAN;.;.	Q	88;88;88;89;19;21;81	ENSP00000402918:R88Q;ENSP00000431966:R88Q;ENSP00000429205:R88Q;ENSP00000405424:R89Q;ENSP00000429438:R19Q;ENSP00000431014:R21Q;ENSP00000311026:R81Q	ENSP00000311026:R81Q	R	+	2	0	OXR1	107760656	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.203000	0.95033	2.829000	0.97493	0.585000	0.79938	CGA		0.338	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		11	42	0	0	0	1	0	11	42				
TG	7038	broad.mit.edu	37	8	133900320	133900320	+	Silent	SNP	C	C	T	rs141011127		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133900320C>T	ENST00000220616.4	+	10	2308	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TG_ENST00000377869.1_Silent_p.S756S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	756	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		CCACCCTTTCCGACACCTACA	0.587																																						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.(2266-2268)tcC>tcT		thyroglobulin		C		0,4406		0,0,2203	86.0	63.0	71.0		2268	2.4	0.1	8	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TG	NM_003235.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		756/2769	133900320	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900320C>T	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.2268C>T	8.37:g.133900320C>T						TG_ENST00000377869.1_Silent_p.S756S	p.S756S	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)	10	2308	+	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)	756			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2268C>T	CCDS34944.1																																																																																				0.587	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		21	34	0	0	0	1	0	21	34				
TRIM31	11074	broad.mit.edu	37	6	30080518	30080518	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30080518A>C	ENST00000376734.3	-	2	190	c.65T>G	c.(64-66)aTt>aGt	p.I22S	TRIM31_ENST00000540829.1_Missense_Mutation_p.I22S|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_5'Flank	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	22					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTTCTGCAGAATGTCCAGGCA	0.483																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(64-66)aTt>aGt		tripartite motif containing 31							98.0	101.0	100.0					6																	30080518		1509	2708	4217	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30080518A>C	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.65T>G	6.37:g.30080518A>C	ENSP00000365924:p.Ile22Ser					TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.I22S	p.I22S	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			2	190	-			22					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.65T>G	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	A	9.165	1.019592	0.19355	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.08546	3.08;3.08	3.89	-0.338	0.12651	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.35291	N	0.003303	T	0.02494	0.0076	N	0.04636	-0.2	0.09310	N	1	D	0.61697	0.99	D	0.66979	0.948	T	0.40942	-0.9536	10	0.34782	T	0.22	.	3.5302	0.07774	0.4062:0.0:0.11:0.4838	.	22	Q9BZY9	TRI31_HUMAN	S	22	ENSP00000365924:I22S;ENSP00000444311:I22S	ENSP00000365918:I22S	I	-	2	0	TRIM31	30188497	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.707000	0.05041	0.157000	0.19338	0.448000	0.29417	ATT		0.483	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			61	23	0	0	0	1	0	61	23				
USP28	57646	broad.mit.edu	37	11	113723356	113723356	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113723356C>A	ENST00000003302.4	-	3	204		c.e3-1		USP28_ENST00000537706.1_Splice_Site|USP28_ENST00000545540.1_Intron|USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000542033.1_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CATTACTGGCCTATGGGAGAA	0.388																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e3-1		ubiquitin specific peptidase 28							71.0	62.0	65.0					11																	113723356		2201	4296	6497	SO:0001630	splice_region_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113723356C>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.136-1G>T	11.37:g.113723356C>A						USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Intron|USP28_ENST00000542033.1_Splice_Site|USP28_ENST00000537706.1_Splice_Site		NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	3	204	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)						B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	ENST00000003302.4	37		CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367149	0.61513	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000537706;ENST00000540925;ENST00000544750	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7897	0.78345	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113228566	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.071000	0.57556	2.794000	0.96219	0.655000	0.94253	.		0.388	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Intron	7	42	1	0	0.00198382	1	0.00207034	7	42				
PPIL6	285755	broad.mit.edu	37	6	109752502	109752502	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109752502A>C	ENST00000521072.2	-	3	858	c.278T>G	c.(277-279)tTt>tGt	p.F93C	AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000424445.2_Missense_Mutation_p.F61C|PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000440797.2_Missense_Mutation_p.F93C	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	93					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		ACCATTAACAAAAGAAATCAC	0.403																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(277-279)tTt>tGt		peptidylprolyl isomerase (cyclophilin)-like 6							75.0	73.0	74.0					6																	109752502		2203	4300	6503	SO:0001583	missense	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109752502A>C		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.278T>G	6.37:g.109752502A>C	ENSP00000427929:p.Phe93Cys					PPIL6_ENST00000440797.2_Missense_Mutation_p.F93C|PPIL6_ENST00000424445.2_Missense_Mutation_p.F61C|PPIL6_ENST00000524031.1_5'UTR	p.F93C	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	3	858	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	93					A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	ENST00000521072.2	37	c.278T>G	CCDS5074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.01|16.01	3.000706|3.000706	0.54254|0.54254	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723;ENST00000518648	T;T;T;T|.	0.34072|.	1.98;1.89;1.93;1.38|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.68238|0.68238	0.2979|0.2979	M|M	0.77820|0.77820	2.39|2.39	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.76071|.	0.979;0.987;0.979|.	T|T	0.71122|0.71122	-0.4684|-0.4684	10|6	0.87932|.	D|.	0|.	-16.0659|-16.0659	14.1498|14.1498	0.65375|0.65375	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	93;61;93|.	A9NIU9;E7EX15;Q8IXY8|.	.;.;PPIL6_HUMAN|.	C|L	61;93;93;50|32;40	ENSP00000407731:F61C;ENSP00000392257:F93C;ENSP00000427929:F93C;ENSP00000411731:F50C|.	ENSP00000411731:F50C|.	F|F	-|-	2|3	0|2	PPIL6|PPIL6	109859195|109859195	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.249000|0.249000	0.25844|0.25844	6.303000|6.303000	0.72794|0.72794	1.976000|1.976000	0.57569|0.57569	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.403	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			22	37	0	0	0	1	0	22	37				
KCNA3	3738	broad.mit.edu	37	1	111216610	111216610	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216610G>A	ENST00000369769.2	-	1	1045	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	274					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CGGCTGCTTCGAATGAGTCCT	0.612																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(820-822)ttC>ttT		potassium voltage-gated channel, shaker-related subfamily, member 3							47.0	50.0	49.0					1																	111216610		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216610G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.822C>T	1.37:g.111216610G>A							p.F274F	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1045	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	274					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.822C>T	CCDS828.2																																																																																				0.612	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		4	91	0	0	0	1	0	4	91				
NRIP1	8204	broad.mit.edu	37	21	16337987	16337987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:16337987C>A	ENST00000400202.1	-	3	3239	c.2527G>T	c.(2527-2529)Gaa>Taa	p.E843*	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E843*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E843*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	843	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGTGCCATTTCATTATTTCTG	0.353																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(2527-2529)Gaa>Taa		nuclear receptor interacting protein 1							80.0	88.0	85.0					21																	16337987		2202	4298	6500	SO:0001587	stop_gained	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16337987C>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2527G>T	21.37:g.16337987C>A	ENSP00000383063:p.Glu843*					NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E843*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E843*	p.E843*			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	3239	-			843			Repression domain 3.		Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	c.2527G>T	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	44	11.029384	0.99505	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	5.45	4.56	0.56223	.	0.365192	0.27437	N	0.019374	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.9911	17.0425	0.86493	0.0:0.8724:0.1276:0.0	.	.	.	.	X	843	.	ENSP00000327213:E843X	E	-	1	0	NRIP1	15259858	1.000000	0.71417	0.993000	0.49108	0.719000	0.41307	5.349000	0.66010	1.616000	0.50265	0.655000	0.94253	GAA		0.353	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		27	39	1	0	1.38267e-23	1	1.93402e-23	27	39				
OR2A2	442361	broad.mit.edu	37	7	143807156	143807156	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143807156C>A	ENST00000408979.2	+	1	550	c.481C>A	c.(481-483)Ctc>Atc	p.L161I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACATGAAATTCTCCTTCTAAG	0.532																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(481-483)Ctc>Atc		olfactory receptor, family 2, subfamily A, member 2							118.0	112.0	114.0					7																	143807156		2001	4174	6175	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807156C>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.481C>A	7.37:g.143807156C>A	ENSP00000386209:p.Leu161Ile						p.L161I	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	550	+	Melanoma(164;0.0783)		161					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.481C>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206468	0.22205	.	.	ENSG00000221989	ENST00000408979	T	0.00158	8.65	3.61	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30658	U	0.009150	T	0.00328	0.0010	M	0.64567	1.98	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.48490	-0.9031	10	0.48119	T	0.1	-23.9483	8.544	0.33410	0.0:0.881:0.0:0.119	.	161	Q6IF42	OR2A2_HUMAN	I	161	ENSP00000386209:L161I	ENSP00000386209:L161I	L	+	1	0	OR2A2	143438089	0.000000	0.05858	0.010000	0.14722	0.147000	0.21601	-0.811000	0.04500	0.846000	0.35142	0.609000	0.83330	CTC		0.532	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			33	59	1	0	1.08312e-15	1	1.43e-15	33	59				
ENOX2	10495	broad.mit.edu	37	X	129843233	129843233	+	Silent	SNP	G	G	A	rs374071821		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129843233G>A	ENST00000370927.1	-	1	54	c.33C>T	c.(31-33)taC>taT	p.Y11Y	ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000338144.3_Silent_p.Y11Y|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Intron			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	11					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGCCTATTTCGTAGACCCACA	0.413													A|||	1	0.000264901	0.0	0.0014	3775	,	,		5135	0.0		0.0	False		,,,				2504	0.0				Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(31-33)taC>taT		ecto-NOX disulfide-thiol exchanger 2		A	,	0,3835		0,0,1632,571	188.0	144.0	159.0		,33	2.9	0.3	X		159	1,6727		0,1,2427,1872	no	intron,coding-synonymous	ENOX2	NM_006375.2,NM_182314.1	,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,	,11/611	129843233	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129843233G>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.33C>T	X.37:g.129843233G>A						ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370927.1_Silent_p.Y11Y	p.Y11Y	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			4	450	-			11					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	ENST00000370927.1	37	c.33C>T	CCDS14626.1																																																																																				0.413	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		28	38	0	0	0	1	0	28	38				
NEGR1	257194	broad.mit.edu	37	1	72058522	72058522	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:72058522G>A	ENST00000357731.5	-	6	1157	c.918C>T	c.(916-918)acC>acT	p.T306T	NEGR1_ENST00000306821.3_Silent_p.T178T|NEGR1_ENST00000434200.1_Silent_p.T260T	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	306	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGCTCGCATTGGTTGTGCCTA	0.463																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(916-918)acC>acT		neuronal growth regulator 1							126.0	125.0	125.0					1																	72058522		2203	4300	6503	SO:0001819	synonymous_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72058522G>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.918C>T	1.37:g.72058522G>A						NEGR1_ENST00000306821.3_Silent_p.T178T|NEGR1_ENST00000434200.1_Silent_p.T260T	p.T306T	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	6	1157	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	306			Ig-like C2-type 3.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	c.918C>T	CCDS661.1																																																																																				0.463	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		28	47	0	0	0	1	0	28	47				
WAS	7454	broad.mit.edu	37	X	48542779	48542779	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48542779G>T	ENST00000376701.4	+	2	315	c.240G>T	c.(238-240)caG>caT	p.Q80H	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	80	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ATAACCCCCAGAAGTCCTACT	0.592			"""Mis, N, F, S"""			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(238-240)caG>caT		Wiskott-Aldrich syndrome							112.0	78.0	89.0					X																	48542779		2203	4300	6503	SO:0001583	missense	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48542779G>T	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.240G>T	X.37:g.48542779G>T	ENSP00000365891:p.Gln80His					WAS_ENST00000483750.1_3'UTR	p.Q80H	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			2	315	+		all_lung(315;1.27e-10)	80			WH1.		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.240G>T	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538456	0.45176	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.98762	-5.12;-5.12	4.73	1.53	0.23141	EVH1 (3);Pleckstrin homology-type (1);	0.139125	0.46145	D	0.000308	D	0.97393	0.9147	L	0.38175	1.15	0.32578	N	0.528837	D	0.61080	0.989	D	0.66084	0.941	D	0.95281	0.8386	10	0.52906	T	0.07	-10.8976	2.8521	0.05561	0.1069:0.288:0.4461:0.159	.	80	P42768	WASP_HUMAN	H	80	ENSP00000410537:Q80H;ENSP00000365891:Q80H	ENSP00000365891:Q80H	Q	+	3	2	WAS	48427723	1.000000	0.71417	0.998000	0.56505	0.493000	0.33554	2.180000	0.42537	0.788000	0.33755	0.287000	0.19450	CAG		0.592	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		21	26	1	0	1.96292e-10	1	2.40731e-10	21	26				
LRRC16B	90668	broad.mit.edu	37	14	24533552	24533552	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24533552C>A	ENST00000342740.5	+	32	3231	c.3077C>A	c.(3076-3078)tCt>tAt	p.S1026Y	LRRC16B_ENST00000334420.7_Missense_Mutation_p.S122Y	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1026						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGGAAAGTTCTAGGTGTGAT	0.582																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(3076-3078)tCt>tAt		leucine rich repeat containing 16B							64.0	52.0	56.0					14																	24533552		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24533552C>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3077C>A	14.37:g.24533552C>A	ENSP00000340467:p.Ser1026Tyr					LRRC16B_ENST00000334420.7_Missense_Mutation_p.S122Y	p.S1026Y	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	32	3231	+			1026					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.3077C>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511884	0.27036	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.53857	0.6;0.6	5.28	5.28	0.74379	.	0.000000	0.42420	D	0.000712	T	0.56140	0.1965	L	0.46157	1.445	0.52501	D	0.999959	D;P	0.56968	0.978;0.651	P;B	0.53146	0.719;0.112	T	0.57063	-0.7875	10	0.51188	T	0.08	-3.8472	11.5174	0.50529	0.179:0.821:0.0:0.0	.	122;1026	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	Y	1026;122	ENSP00000340467:S1026Y;ENSP00000334701:S122Y	ENSP00000334701:S122Y	S	+	2	0	LRRC16B	23603392	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	1.483000	0.35497	2.467000	0.83353	0.655000	0.94253	TCT		0.582	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		3	9	1	0	0.000602214	1	0.000636035	3	9				
TENM2	57451	broad.mit.edu	37	5	167689283	167689283	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167689283C>A	ENST00000518659.1	+	29	7832	c.7793C>A	c.(7792-7794)tCt>tAt	p.S2598Y	TENM2_ENST00000519204.1_Missense_Mutation_p.S2477Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S2597Y|TENM2_ENST00000520394.1_Missense_Mutation_p.S2359Y|TENM2_ENST00000403607.2_Missense_Mutation_p.S2422Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2598					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AAGGTGGCATCTGTGCTGAAC	0.562																																						ENST00000519204.1																			0											c.(7429-7431)tCt>tAt		teneurin transmembrane protein 2							42.0	47.0	45.0					5																	167689283		2117	4242	6359	SO:0001583	missense	57451							g.chr5:167689283C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7793C>A	5.37:g.167689283C>A	ENSP00000429430:p.Ser2598Tyr					TENM2_ENST00000518659.1_Missense_Mutation_p.S2598Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S2597Y|TENM2_ENST00000403607.2_Missense_Mutation_p.S2422Y|TENM2_ENST00000520394.1_Missense_Mutation_p.S2359Y	p.S2477Y							28	7548	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7430C>A		.	.	.	.	.	.	.	.	.	.	C	10.29	1.309760	0.23821	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90563	-2.22;-2.2;-2.32;-2.69;-2.68	5.42	5.42	0.78866	.	0.201022	0.44097	D	0.000496	D	0.87466	0.6184	N	0.22421	0.69	0.09310	N	1	P;P;B	0.39094	0.659;0.529;0.255	P;B;B	0.45998	0.5;0.304;0.126	T	0.82806	-0.0275	10	0.87932	D	0	.	12.8866	0.58047	0.0:0.9252:0.0:0.0748	.	2597;2598;2359	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Y	2598;2597;2477;2359;2422	ENSP00000429430:S2598Y;ENSP00000438635:S2597Y;ENSP00000428964:S2477Y;ENSP00000427874:S2359Y;ENSP00000384905:S2422Y	ENSP00000384905:S2422Y	S	+	2	0	ODZ2	167621861	0.690000	0.27699	0.034000	0.17996	0.674000	0.39518	3.638000	0.54332	2.694000	0.91930	0.655000	0.94253	TCT		0.562	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		9	15	1	0	0.000274275	1	0.000292037	9	15				
AKAP12	9590	broad.mit.edu	37	6	151671492	151671492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151671492G>T	ENST00000253332.1	+	3	2155	c.1966G>T	c.(1966-1968)Gaa>Taa	p.E656*	AKAP12_ENST00000402676.2_Nonsense_Mutation_p.E656*|AKAP12_ENST00000354675.6_Nonsense_Mutation_p.E558*|AKAP12_ENST00000359755.5_Nonsense_Mutation_p.E551*			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	656					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AATGCAAGAAGAAATGAAAGG	0.483																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1966-1968)Gaa>Taa		A kinase (PRKA) anchor protein 12							75.0	73.0	73.0					6																	151671492		2203	4300	6503	SO:0001587	stop_gained	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671492G>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1966G>T	6.37:g.151671492G>T	ENSP00000253332:p.Glu656*					AKAP12_ENST00000253332.1_Nonsense_Mutation_p.E656*|AKAP12_ENST00000354675.6_Nonsense_Mutation_p.E558*|AKAP12_ENST00000359755.5_Nonsense_Mutation_p.E551*	p.E656*	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2206	+		Ovarian(120;0.125)	656					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Nonsense_Mutation	SNP	ENST00000253332.1	37	c.1966G>T	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	37	6.045721	0.97231	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	.	.	.	5.52	5.52	0.82312	.	0.176166	0.27513	N	0.019039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	16.9637	0.86280	0.0:0.0:1.0:0.0	.	.	.	.	X	656;656;558;551	.	ENSP00000253332:E656X	E	+	1	0	AKAP12	151713185	1.000000	0.71417	0.073000	0.20177	0.348000	0.29142	7.845000	0.86875	2.591000	0.87537	0.650000	0.86243	GAA		0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			20	48	1	0	2.4624e-09	1	2.95225e-09	20	48				
SCRN3	79634	broad.mit.edu	37	2	175289296	175289296	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175289296G>T	ENST00000272732.6	+	7	1093	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.K330N	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	337							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)			TAGTTAAAAAGAAATCACATT	0.328																																						ENST00000272732.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(1009-1011)aaG>aaT		secernin 3							76.0	73.0	74.0					2																	175289296		2203	4298	6501	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175289296G>T	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.1011G>T	2.37:g.175289296G>T	ENSP00000272732:p.Lys337Asn					SCRN3_ENST00000409673.3_Missense_Mutation_p.K330N|SCRN3_ENST00000548921.1_3'UTR	p.K337N	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		7	1093	+			337					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.1011G>T	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368247	0.24771	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.09350	2.99;3.0	4.91	4.03	0.46877	.	0.101905	0.64402	D	0.000003	T	0.18800	0.0451	M	0.76002	2.32	0.39047	D	0.960242	P;P	0.51653	0.947;0.933	P;B	0.49047	0.599;0.441	T	0.03473	-1.1033	10	0.37606	T	0.19	-11.6765	9.1574	0.37000	0.165:0.0:0.835:0.0	.	330;337	B4DI11;Q0VDG4	.;SCRN3_HUMAN	N	330;337	ENSP00000387142:K330N;ENSP00000272732:K337N	ENSP00000272732:K337N	K	+	3	2	SCRN3	174997542	1.000000	0.71417	0.854000	0.33618	0.048000	0.14542	2.856000	0.48341	1.069000	0.40788	0.555000	0.69702	AAG		0.328	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		9	27	1	0	3.09899e-07	1	3.54467e-07	9	27				
OGT	8473	broad.mit.edu	37	X	70793483	70793483	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70793483C>T	ENST00000373719.3	+	22	3197	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	OGT_ENST00000373701.3_Missense_Mutation_p.R984C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	994	Required for phosphatidylinositol 3,4,5- triphosphate binding.				apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.R994C(1)|p.R984C(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GAAGAAAGTTCGTGGCAAAGT	0.418																																						ENST00000373719.3																			2	Substitution - Missense(2)	p.R994C(1)|p.R984C(1)	large_intestine(2)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2980-2982)Cgt>Tgt		O-linked N-acetylglucosamine (GlcNAc) transferase							97.0	83.0	87.0					X																	70793483		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70793483C>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2980C>T	X.37:g.70793483C>T	ENSP00000362824:p.Arg994Cys					OGT_ENST00000373701.3_Missense_Mutation_p.R984C	p.R994C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			22	3197	+	Renal(35;0.156)		994					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.2980C>T	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183122	0.57800	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.80033	-1.33;-1.33	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	D	0.94051	0.7318	10	0.87932	D	0	-15.8655	17.3903	0.87428	0.0:1.0:0.0:0.0	.	868;984;994	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	C	994;984	ENSP00000362824:R994C;ENSP00000362805:R984C	ENSP00000362805:R984C	R	+	1	0	OGT	70710208	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.683000	0.61679	2.376000	0.81061	0.600000	0.82982	CGT		0.418	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		16	33	0	0	0	1	0	16	33				
NEK7	140609	broad.mit.edu	37	1	198231762	198231762	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:198231762C>A	ENST00000367385.4	+	4	598	c.256C>A	c.(256-258)Ctt>Att	p.L86I	NEK7_ENST00000538004.1_Missense_Mutation_p.L86I	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AATAGATCTTCTTAAGGTAAT	0.279																																						ENST00000367385.4																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(256-258)Ctt>Att		NIMA-related kinase 7							126.0	131.0	129.0					1																	198231762		2203	4289	6492	SO:0001583	missense	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198231762C>A	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.256C>A	1.37:g.198231762C>A	ENSP00000356355:p.Leu86Ile					NEK7_ENST00000538004.1_Missense_Mutation_p.L86I	p.L86I	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN			4	598	+			86			Protein kinase.		A6NGT8	Missense_Mutation	SNP	ENST00000367385.4	37	c.256C>A	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404051	0.96051	.	.	ENSG00000151414	ENST00000367385;ENST00000538004	T;T	0.53640	0.61;0.61	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73613	-0.3927	10	0.72032	D	0.01	.	19.5722	0.95425	0.0:1.0:0.0:0.0	.	86	Q8TDX7	NEK7_HUMAN	I	86	ENSP00000356355:L86I;ENSP00000444621:L86I	ENSP00000356355:L86I	L	+	1	0	NEK7	196498385	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.448000	0.60027	2.722000	0.93159	0.650000	0.86243	CTT		0.279	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494		20	41	1	0	4.54149e-19	1	6.16979e-19	20	41				
NPHP1	4867	broad.mit.edu	37	2	110881402	110881402	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:110881402T>C	ENST00000393272.3	-	20	2262	c.2165A>G	c.(2164-2166)gAc>gGc	p.D722G	NPHP1_ENST00000316534.4_Missense_Mutation_p.D723G|NPHP1_ENST00000445609.2_Missense_Mutation_p.D667G|NPHP1_ENST00000355301.4_Missense_Mutation_p.D604G|NPHP1_ENST00000417665.1_Missense_Mutation_p.D701G|AC013268.1_ENST00000390802.1_RNA	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	722					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ACCCAAGAAGTCATAGGTCTG	0.493																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(2167-2169)gAc>gGc		nephronophthisis 1 (juvenile)							88.0	78.0	81.0					2																	110881402		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110881402T>C	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.2165A>G	2.37:g.110881402T>C	ENSP00000376953:p.Asp722Gly					NPHP1_ENST00000417665.1_Missense_Mutation_p.D701G|NPHP1_ENST00000393272.3_Missense_Mutation_p.D722G|NPHP1_ENST00000445609.2_Missense_Mutation_p.D667G|NPHP1_ENST00000355301.4_Missense_Mutation_p.D604G	p.D723G			O15259	NPHP1_HUMAN			20	2241	-			722					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.2168A>G	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388818	0.82902	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.75821	-0.96;-0.93;-0.96;-0.87;-0.97	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;1.0;0.999	D	0.88204	0.2886	10	0.72032	D	0.01	-26.3665	14.7916	0.69846	0.0:0.0:0.0:1.0	.	666;604;722;667;723	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	G	723;667;722;604;701	ENSP00000313169:D723G;ENSP00000389879:D667G;ENSP00000376953:D722G;ENSP00000347452:D604G;ENSP00000402176:D701G	ENSP00000313169:D723G	D	-	2	0	NPHP1	110238691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.447000	0.66606	2.172000	0.68678	0.379000	0.24179	GAC		0.493	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		13	59	0	0	0	1	0	13	59				
C2CD5	9847	broad.mit.edu	37	12	22635604	22635604	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22635604C>T	ENST00000333957.4	-	14	1879	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	C2CD5_ENST00000544930.1_Missense_Mutation_p.E357K|C2CD5_ENST00000446597.1_Missense_Mutation_p.E542K|C2CD5_ENST00000536386.1_Missense_Mutation_p.E544K|C2CD5_ENST00000396028.2_Missense_Mutation_p.E533K|C2CD5_ENST00000542676.1_Missense_Mutation_p.E542K|C2CD5_ENST00000545552.1_Missense_Mutation_p.E555K	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	542					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ACTTCATATTCCATAAATGGC	0.348																																						ENST00000333957.4																			0											c.(1624-1626)Gaa>Aaa		C2 calcium-dependent domain containing 5							180.0	170.0	174.0					12																	22635604		2202	4300	6502	SO:0001583	missense	9847							g.chr12:22635604C>T	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1624G>A	12.37:g.22635604C>T	ENSP00000334229:p.Glu542Lys					C2CD5_ENST00000545552.1_Missense_Mutation_p.E555K|C2CD5_ENST00000542676.1_Missense_Mutation_p.E542K|C2CD5_ENST00000536386.1_Missense_Mutation_p.E544K|C2CD5_ENST00000446597.1_Missense_Mutation_p.E542K|C2CD5_ENST00000396028.2_Missense_Mutation_p.E533K|C2CD5_ENST00000544930.1_Missense_Mutation_p.E357K	p.E542K	NM_014802.1	NP_055617.1					14	1879	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1624G>A	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379137	0.95945	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.74122	0.3675	M	0.82056	2.57	0.80722	D	1	D;D;P;D;D;P	0.69078	0.997;0.983;0.954;0.995;0.975;0.955	D;P;P;P;P;P	0.64237	0.923;0.761;0.764;0.878;0.684;0.596	T	0.77456	-0.2581	10	0.87932	D	0	-24.0624	19.6014	0.95563	0.0:1.0:0.0:0.0	.	544;542;357;544;533;542	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	K	542;542;544;533;542;555;357	ENSP00000334229:E542K;ENSP00000388756:E542K;ENSP00000439392:E544K;ENSP00000379345:E533K;ENSP00000441951:E542K;ENSP00000443204:E555K;ENSP00000445288:E357K	ENSP00000334229:E542K	E	-	1	0	KIAA0528	22526871	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.109000	0.77062	2.622000	0.88805	0.650000	0.86243	GAA		0.348	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		27	36	0	0	0	1	0	27	36				
MYSM1	114803	broad.mit.edu	37	1	59147640	59147640	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:59147640G>T	ENST00000472487.1	-	8	1115	c.1076C>A	c.(1075-1077)tCt>tAt	p.S359Y	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	359					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CATTTGGCAAGAATGAAAAAG	0.368																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1075-1077)tCt>tAt		Myb-like, SWIRM and MPN domains 1							95.0	87.0	90.0					1																	59147640		1830	4092	5922	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59147640G>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1076C>A	1.37:g.59147640G>T	ENSP00000418734:p.Ser359Tyr					MYSM1_ENST00000493821.1_5'UTR	p.S359Y	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			8	1115	-	all_cancers(7;9.36e-06)		359					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.1076C>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797332	0.50208	.	.	ENSG00000162601	ENST00000472487	T	0.25085	1.82	4.96	4.04	0.47022	.	0.959852	0.08756	N	0.898472	T	0.20088	0.0483	N	0.24115	0.695	0.23023	N	0.998417	P	0.44578	0.838	B	0.38712	0.28	T	0.14924	-1.0455	10	0.66056	D	0.02	-2.9259	12.3714	0.55256	0.0814:0.0:0.9186:0.0	.	359	Q5VVJ2	MYSM1_HUMAN	Y	359	ENSP00000418734:S359Y	ENSP00000418734:S359Y	S	-	2	0	MYSM1	58920228	1.000000	0.71417	0.995000	0.50966	0.747000	0.42532	6.188000	0.72045	1.308000	0.44962	0.585000	0.79938	TCT		0.368	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		20	32	1	0	2.4624e-09	1	2.95225e-09	20	32				
GZMB	3002	broad.mit.edu	37	14	25101296	25101296	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:25101296G>T	ENST00000216341.4	-	4	474	c.368C>A	c.(367-369)gCt>gAt	p.A123D	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.A78D|GZMB_ENST00000415355.3_Missense_Mutation_p.A111D|GZMB_ENST00000526004.1_Missense_Mutation_p.L78M|GZMB_ENST00000382542.1_Missense_Mutation_p.A157D|RP11-104E19.1_ENST00000557736.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	123	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GGGCTGCACAGCTCTGGTCCG	0.637																																						ENST00000216341.4																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(367-369)gCt>gAt		granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)							54.0	52.0	53.0					14																	25101296		2203	4300	6503	SO:0001583	missense	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25101296G>T	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.368C>A	14.37:g.25101296G>T	ENSP00000216341:p.Ala123Asp					GZMB_ENST00000382542.1_Missense_Mutation_p.A157D|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.A78D|GZMB_ENST00000415355.3_Missense_Mutation_p.A111D|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_Missense_Mutation_p.L78M	p.A123D			P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	4	474	-			123			Peptidase S1.		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	c.368C>A	CCDS9633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.12|11.12	1.545557|1.545557	0.27652|0.27652	.|.	.|.	ENSG00000100453|ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539|ENST00000526004	T;D;D;T|T	0.93019|0.80653	0.24;-3.15;-3.15;1.55|-1.4	5.3|5.3	3.33|3.33	0.38152|0.38152	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.34223|.	N|.	0.004156|.	T|T	0.79064|0.79064	0.4383|0.4383	L|L	0.43757|0.43757	1.38|1.38	0.35186|0.35186	D|D	0.772976|0.772976	B;B|.	0.32620|.	0.378;0.368|.	B;B|.	0.37888|.	0.218;0.26|.	T|T	0.82550|0.82550	-0.0401|-0.0401	10|7	0.48119|0.44086	T|T	0.1|0.13	.|.	10.5879|10.5879	0.45294|0.45294	0.0:0.0:0.6531:0.3469|0.0:0.0:0.6531:0.3469	.|.	111;123|.	Q6XGZ4;P10144|.	.;GRAB_HUMAN|.	D|M	111;123;157;78;28|78	ENSP00000387385:A111D;ENSP00000216341:A123D;ENSP00000371982:A157D;ENSP00000371980:A78D|ENSP00000434213:L78M	ENSP00000216341:A123D|ENSP00000434213:L78M	A|L	-|-	2|1	0|2	GZMB|GZMB	24171136|24171136	0.000000|0.000000	0.05858|0.05858	0.918000|0.918000	0.36340|0.36340	0.032000|0.032000	0.12392|0.12392	-0.544000|-0.544000	0.06077|0.06077	1.406000|1.406000	0.46857|0.46857	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.637	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		12	46	1	0	1.08611e-07	1	1.25818e-07	12	46				
FAF2	23197	broad.mit.edu	37	5	175921084	175921084	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175921084C>T	ENST00000261942.6	+	6	621	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	190					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TGAGTTTTGTCGGTAAGTGGA	0.403																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.e6+1		Fas associated factor family member 2							163.0	158.0	160.0					5																	175921084		2203	4300	6503	SO:0001630	splice_region_variant	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175921084C>T	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.569+1C>T	5.37:g.175921084C>T							p.R190_splice	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			6	621	+			190					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Splice_Site	SNP	ENST00000261942.6	37	c.569_splice	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396910	0.83120	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	T	0.55413	0.52	5.36	5.36	0.76844	UAS (1);	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78740	-0.2086	10	0.87932	D	0	-11.8329	14.3143	0.66437	0.1484:0.8516:0.0:0.0	.	190	Q96CS3	FAF2_HUMAN	C	190	ENSP00000261942:R190C	ENSP00000261942:R190C	R	+	1	0	FAF2	175853690	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.551000	0.67274	2.664000	0.90586	0.650000	0.86243	CGC		0.403	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613	Missense_Mutation	17	38	0	0	0	1	0	17	38				
RFC5	5985	broad.mit.edu	37	12	118467596	118467596	+	Nonsense_Mutation	SNP	C	C	T	rs141299152		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118467596C>T	ENST00000454402.2	+	10	1010	c.892C>T	c.(892-894)Cga>Tga	p.R298*	RFC5_ENST00000229043.3_Nonsense_Mutation_p.R213*|RFC5_ENST00000392542.2_Nonsense_Mutation_p.R277*|RFC5_ENST00000543153.1_3'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	298					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTTCAGTTCGAATACATTT	0.363																																						ENST00000392542.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(829-831)Cga>Tga		replication factor C (activator 1) 5, 36.5kDa							256.0	232.0	240.0					12																	118467596		2203	4300	6503	SO:0001587	stop_gained	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118467596C>T		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.892C>T	12.37:g.118467596C>T	ENSP00000408295:p.Arg298*					RFC5_ENST00000229043.3_Nonsense_Mutation_p.R213*|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000454402.2_Nonsense_Mutation_p.R298*	p.R277*	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN			11	1362	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		298					A8MZ62|B3KSX8	Nonsense_Mutation	SNP	ENST00000454402.2	37	c.829C>T	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	C	41	8.723367	0.98929	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	.	.	.	4.97	3.13	0.36017	.	0.089768	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-3.6726	8.9798	0.35957	0.1487:0.7726:0.0:0.0787	.	.	.	.	X	213;298;277	.	ENSP00000229043:R213X	R	+	1	2	RFC5	116951979	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.202000	0.58446	0.788000	0.33755	-0.181000	0.13052	CGA		0.363	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		35	55	0	0	0	1	0	35	55				
METTL21C	196541	broad.mit.edu	37	13	103343277	103343277	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103343277C>A	ENST00000267273.6	-	2	173	c.168G>T	c.(166-168)caG>caT	p.Q56H		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	56					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GAACAAATTTCTGGAGGCTAT	0.418																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(166-168)caG>caT		methyltransferase like 21C							153.0	142.0	146.0					13																	103343277		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103343277C>A		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.168G>T	13.37:g.103343277C>A	ENSP00000267273:p.Gln56His						p.Q56H	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			2	173	-			56						Missense_Mutation	SNP	ENST00000267273.6	37	c.168G>T	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104758	0.77096	.	.	ENSG00000139780	ENST00000267273	T	0.15017	2.46	6.16	5.32	0.75619	.	0.343830	0.35466	N	0.003190	T	0.23451	0.0567	L	0.29908	0.895	0.36099	D	0.844018	D	0.64830	0.994	P	0.54401	0.751	T	0.17137	-1.0379	10	0.51188	T	0.08	-4.0E-4	14.4491	0.67372	0.0:0.9304:0.0:0.0696	.	56	Q5VZV1	MT21C_HUMAN	H	56	ENSP00000267273:Q56H	ENSP00000267273:Q56H	Q	-	3	2	METTL21C	102141278	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.942000	0.49018	1.627000	0.50400	0.650000	0.86243	CAG		0.418	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		19	45	1	0	2.27525e-19	1	3.09626e-19	19	45				
ADAMTS19	171019	broad.mit.edu	37	5	128864216	128864216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:128864216G>T	ENST00000274487.4	+	6	1301	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	386	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTTGCAGCCAGAACTATATAT	0.333																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1156-1158)Gaa>Taa		ADAM metallopeptidase with thrombospondin type 1 motif, 19							55.0	59.0	58.0					5																	128864216		2203	4300	6503	SO:0001587	stop_gained	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128864216G>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1156G>T	5.37:g.128864216G>T	ENSP00000274487:p.Glu386*					CTC-575N7.1_ENST00000503616.1_RNA	p.E386*	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	6	1301	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	386			Peptidase M12B.			Nonsense_Mutation	SNP	ENST00000274487.4	37	c.1156G>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931691	0.52866	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.24	4.24	0.50183	.	0.345756	0.26844	N	0.022214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9366	0.89014	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	.	E	+	1	0	ADAMTS19	128892115	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	4.197000	0.58413	2.636000	0.89361	0.655000	0.94253	GAA		0.333	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		15	16	1	0	1.05317e-09	1	1.27574e-09	15	16				
MAP2K4	6416	broad.mit.edu	37	17	11984700	11984700	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11984700G>A	ENST00000353533.5	+	3	309	c.246G>A	c.(244-246)gaG>gaA	p.E82E	MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000415385.3_Silent_p.E93E|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	82					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|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)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACAGCATTGAGTCATCAGGAA	0.378			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(277-279)gaG>gaA		mitogen-activated protein kinase kinase 4							82.0	77.0	79.0					17																	11984700		2203	4300	6503	SO:0001819	synonymous_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like 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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:11984700G>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.246G>A	17.37:g.11984700G>A						MAP2K4_ENST00000353533.5_Silent_p.E82E	p.E93E			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	4	332	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	82					B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	ENST00000353533.5	37	c.279G>A	CCDS11162.1																																																																																				0.378	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			21	30	0	0	0	1	0	21	30				
PCDH17	27253	broad.mit.edu	37	13	58206862	58206862	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:58206862C>T	ENST00000377918.3	+	1	208	c.182C>T	c.(181-183)tCg>tTg	p.S61L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCAGCAAGTCGGGTAGCTAC	0.692																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(181-183)tCg>tTg		protocadherin 17							23.0	24.0	24.0					13																	58206862		2203	4299	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58206862C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.182C>T	13.37:g.58206862C>T	ENSP00000367151:p.Ser61Leu						p.S61L	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	208	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	61			Cadherin 1.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.182C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034329	0.54896	.	.	ENSG00000118946	ENST00000377918	T	0.29397	1.57	5.55	5.55	0.83447	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.100683	0.64402	D	0.000004	T	0.29620	0.0739	L	0.41415	1.275	0.51767	D	0.999936	B;B	0.31680	0.335;0.041	B;B	0.32090	0.14;0.005	T	0.02526	-1.1146	9	.	.	.	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	61;61	O14917-2;O14917	.;PCD17_HUMAN	L	61	ENSP00000367151:S61L	.	S	+	2	0	PCDH17	57104863	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	4.574000	0.60900	2.894000	0.99253	0.655000	0.94253	TCG		0.692	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		14	26	0	0	0	1	0	14	26				
ARSH	347527	broad.mit.edu	37	X	2947303	2947303	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2947303G>A	ENST00000381130.2	+	8	1215	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	405					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTGACGGCCAGAACCTAATGC	0.542																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(1213-1215)caG>caA		arylsulfatase family, member H							141.0	113.0	122.0					X																	2947303		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2947303G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1215G>A	X.37:g.2947303G>A							p.Q405Q	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			8	1215	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	405						Silent	SNP	ENST00000381130.2	37	c.1215G>A	CCDS35198.1																																																																																				0.542	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		5	145	0	0	0	1	0	5	145				
UNC50	25972	broad.mit.edu	37	2	99227280	99227280	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99227280T>C	ENST00000357765.2	+	3	475	c.323T>C	c.(322-324)tTt>tCt	p.F108S	COA5_ENST00000409997.1_5'Flank|COA5_ENST00000328709.3_5'Flank|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.F125S|UNC50_ENST00000409975.1_Missense_Mutation_p.F125S	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	108					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ATGGGATTCTTTGAGACAATA	0.398																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(373-375)tTt>tCt		unc-50 homolog (C. elegans)							349.0	332.0	337.0					2																	99227280		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99227280T>C		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.323T>C	2.37:g.99227280T>C	ENSP00000350409:p.Phe108Ser					UNC50_ENST00000357765.2_Missense_Mutation_p.F108S|UNC50_ENST00000409347.1_Missense_Mutation_p.F125S	p.F125S			Q53HI1	UNC50_HUMAN			2	1504	+			108					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.374T>C	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129516	0.37630	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.48	4.25	0.50352	.	0.431434	0.28940	N	0.013653	T	0.38585	0.1046	N	0.11724	0.165	0.43750	D	0.996257	B	0.17038	0.02	B	0.27500	0.08	T	0.20174	-1.0283	9	0.21014	T	0.42	0.5219	11.4735	0.50284	0.0:0.0:0.1502:0.8498	.	108	Q53HI1	UNC50_HUMAN	S	108;125;125	.	ENSP00000350409:F108S	F	+	2	0	UNC50	98593712	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.652000	0.61454	2.082000	0.62665	0.374000	0.22700	TTT		0.398	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		4	143	0	0	0	1	0	4	143				
LAMB1	3912	broad.mit.edu	37	7	107635333	107635333	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107635333T>G	ENST00000222399.6	-	5	652	c.422A>C	c.(421-423)aAg>aCg	p.K141T	LAMB1_ENST00000393561.1_Splice_Site_p.K165T|LAMB1_ENST00000393560.1_Splice_Site_p.K141T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	141	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ATTTCTTACCTTGAAAGTCAT	0.358																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.e3+1		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102.0	98.0	99.0					7																	107635333		2203	4300	6503	SO:0001630	splice_region_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107635333T>G	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.423+1A>C	7.37:g.107635333T>G						LAMB1_ENST00000222399.6_Splice_Site_p.K141_splice|LAMB1_ENST00000393560.1_Splice_Site_p.K141_splice	p.K165_splice			P07942	LAMB1_HUMAN			3	678	-			141			Laminin N-terminal.		Q14D91	Splice_Site	SNP	ENST00000222399.6	37	c.495_splice	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.992335	0.93167	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.76186	-1.0;-1.0;-1.0	5.95	5.95	0.96441	Laminin, N-terminal (3);	.	.	.	.	D	0.87325	0.6149	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.988	D	0.89028	0.3440	9	0.87932	D	0	.	16.0971	0.81132	0.0:0.0:0.0:1.0	.	141;141;165	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	T	165;141;141	ENSP00000377191:K165T;ENSP00000222399:K141T;ENSP00000377190:K141T	ENSP00000222399:K141T	K	-	2	0	LAMB1	107422569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	AAG		0.358	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	Missense_Mutation	5	9	0	0	0	1	0	5	9				
MACF1	23499	broad.mit.edu	37	1	39800329	39800329	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39800329C>G	ENST00000372915.3	+	36	8171	c.8084C>G	c.(8083-8085)aCt>aGt	p.T2695S	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.T2727S|MACF1_ENST00000564288.1_Missense_Mutation_p.T2690S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T1130S|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2695					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGCAAATACTGGTGGAATC	0.428																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8068-8070)aCt>aGt		microtubule-actin crosslinking factor 1							47.0	48.0	48.0					1																	39800329		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800329C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8084C>G	1.37:g.39800329C>G	ENSP00000362006:p.Thr2695Ser					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.T2695S|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T1130S|MACF1_ENST00000567887.1_Missense_Mutation_p.T2727S	p.T2690S			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	8846	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2695					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8069C>G		.	.	.	.	.	.	.	.	.	.	C	4.573	0.106464	0.08780	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	D;D	0.82167	-1.58;-1.58	5.07	3.2	0.36748	.	1.106060	0.06853	N	0.797749	T	0.76364	0.3977	N	0.21545	0.675	0.80722	D	1	B	0.20887	0.049	B	0.19148	0.024	T	0.53975	-0.8362	10	0.26408	T	0.33	.	16.5893	0.84761	0.0:0.4917:0.5083:0.0	.	2695	Q9UPN3	MACF1_HUMAN	S	2695;1130	ENSP00000362006:T2695S;ENSP00000289893:T1130S	ENSP00000289893:T1130S	T	+	2	0	MACF1	39572916	0.037000	0.19845	1.000000	0.80357	0.913000	0.54294	0.076000	0.14712	0.731000	0.32448	-1.113000	0.02065	ACT		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	24	0	0	0	1	0	18	24				
TRAPPC11	60684	broad.mit.edu	37	4	184598657	184598657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:184598657G>T	ENST00000334690.6	+	8	983	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	RNU6-335P_ENST00000364563.1_RNA|TRAPPC11_ENST00000511409.1_3'UTR|TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.E261*	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	261					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GAGAGCCCATGAAACTAATAT	0.308																																						ENST00000334690.6																			0											c.(781-783)Gaa>Taa		trafficking protein particle complex 11							89.0	102.0	97.0					4																	184598657		2203	4296	6499	SO:0001587	stop_gained	60684							g.chr4:184598657G>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.781G>T	4.37:g.184598657G>T	ENSP00000335371:p.Glu261*					TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.E261*|TRAPPC11_ENST00000511409.1_3'UTR	p.E261*	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			8	983	+			261					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	ENST00000334690.6	37	c.781G>T	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	38	6.726898	0.97792	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	19.4019	0.94634	0.0:0.0:1.0:0.0	.	.	.	.	X	261	.	ENSP00000335371:E261X	E	+	1	0	C4orf41	184835651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.616000	0.98359	2.645000	0.89757	0.591000	0.81541	GAA		0.308	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		10	53	1	0	1.08611e-07	1	1.25818e-07	10	53				
LRP1	4035	broad.mit.edu	37	12	57588394	57588394	+	Silent	SNP	C	C	T	rs368477109		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57588394C>T	ENST00000243077.3	+	50	8569	c.8103C>T	c.(8101-8103)ttC>ttT	p.F2701F	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2701	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.F2701F(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAATTACTTCGCCTGCCCTA	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		18397	0.0		0.0	False		,,,				2504	0.001					ENST00000243077.3																			2	Substitution - coding silent(2)	p.F2701F(2)	lung(2)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8101-8103)ttC>ttT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			0,4406		0,0,2203	63.0	63.0	63.0		8103	-1.1	1.0	12		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1	NM_002332.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2701/4545	57588394	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588394C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8103C>T	12.37:g.57588394C>T							p.F2701F	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	50	8569	+			2701			LDL-receptor class A 15.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.8103C>T	CCDS8932.1																																																																																				0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		43	53	0	0	0	1	0	43	53				
INADL	10207	broad.mit.edu	37	1	62350017	62350017	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62350017G>A	ENST00000371158.2	+	22	3182	c.3068G>A	c.(3067-3069)cGa>cAa	p.R1023Q	INADL_ENST00000316485.6_Missense_Mutation_p.R1023Q	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1023					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAAGCGACACGAGTTATTTCC	0.413																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(3067-3069)cGa>cAa		InaD-like (Drosophila)							211.0	181.0	191.0					1																	62350017		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62350017G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3068G>A	1.37:g.62350017G>A	ENSP00000360200:p.Arg1023Gln					INADL_ENST00000316485.6_Missense_Mutation_p.R1023Q	p.R1023Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			22	3182	+			1023					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3068G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289757	0.10567	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.14266	2.65;2.52	5.13	-2.11	0.07187	.	0.604741	0.15469	N	0.260694	T	0.08537	0.0212	L	0.42245	1.32	0.22050	N	0.99939	B;B;B	0.17852	0.024;0.008;0.005	B;B;B	0.16289	0.015;0.001;0.011	T	0.40175	-0.9577	10	0.15499	T	0.54	.	5.1791	0.15150	0.4336:0.0:0.4304:0.136	.	1023;1023;1023	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	Q	1023	ENSP00000360200:R1023Q;ENSP00000326199:R1023Q	ENSP00000255202:R1023Q	R	+	2	0	INADL	62122605	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.343000	0.07791	-0.625000	0.05604	-1.168000	0.01747	CGA		0.413	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		33	69	0	0	0	1	0	33	69				
PIGC	5279	broad.mit.edu	37	1	172411565	172411565	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172411565A>G	ENST00000367728.1	-	1	1661	c.198T>C	c.(196-198)tgT>tgC	p.C66C	PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Silent_p.C66C|PIGC_ENST00000344529.4_Silent_p.C66C|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	66					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CCACAAAAACACAAACACTGC	0.478																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(196-198)tgT>tgC		phosphatidylinositol glycan anchor biosynthesis, class C							119.0	119.0	119.0					1																	172411565		2203	4300	6503	SO:0001819	synonymous_variant	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411565A>G	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.198T>C	1.37:g.172411565A>G						PIGC_ENST00000344529.4_Silent_p.C66C|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Silent_p.C66C|C1orf105_ENST00000367727.4_Intron	p.C66C			Q92535	PIGC_HUMAN			1	1661	-			66					O14491	Silent	SNP	ENST00000367728.1	37	c.198T>C	CCDS1302.1																																																																																				0.478	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		48	112	0	0	0	1	0	48	112				
TNFRSF11A	8792	broad.mit.edu	37	18	60025530	60025530	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:60025530C>A	ENST00000586569.1	+	5	515	c.477C>A	c.(475-477)ttC>ttA	p.F159L	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.F159L	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	159					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CAGGCTACTTCTCTGATGCCT	0.418																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(475-477)ttC>ttA		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							141.0	133.0	136.0					18																	60025530		2203	4300	6503	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60025530C>A	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.477C>A	18.37:g.60025530C>A	ENSP00000465500:p.Phe159Leu					TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.F159L	p.F159L	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			5	515	+		Colorectal(73;0.188)	159					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.477C>A	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885864	0.51908	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	D	0.96427	-4.01	5.84	4.96	0.65561	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.056879	0.64402	D	0.000001	D	0.98213	0.9409	M	0.93462	3.42	0.38528	D	0.948908	D;D	0.76494	0.999;0.999	P;D	0.65323	0.866;0.934	D	0.99589	1.0975	9	.	.	.	-25.8018	11.3807	0.49754	0.0:0.8619:0.0:0.1381	.	181;159	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	L	181;159	ENSP00000269485:F159L	.	F	+	3	2	TNFRSF11A	58176510	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	1.185000	0.32065	2.763000	0.94921	0.557000	0.71058	TTC		0.418	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			39	50	1	0	1.59932e-28	1	2.27211e-28	39	50				
HBG1	3047	broad.mit.edu	37	11	5269669	5269669	+	Nonsense_Mutation	SNP	C	C	A	rs34647752		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5269669C>A	ENST00000330597.3	-	3	451	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	CTD-2643I7.1_ENST00000564523.1_RNA	NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	122			E -> K (in Siena/Hull). {ECO:0000269|PubMed:6038320, ECO:0000269|PubMed:6188719}.		blood coagulation (GO:0007596)	cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGTGAATTCTTTGCCGAAA	0.517																																					Ovarian(117;2080 2193 33416 49679)	ENST00000330597.3																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(364-366)Gaa>Taa		hemoglobin, gamma A							56.0	54.0	55.0					11																	5269669		2201	4296	6497	SO:0001587	stop_gained	3047				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr11:5269669C>A	M91036	CCDS7754.1	11p15.5	2014-05-19			ENSG00000213934	ENSG00000213934			4831	protein-coding gene	gene with protein product		142200				2649166	Standard	NM_000559		Approved	HBG-T2	uc001mah.1	P69891	OTTHUMG00000066681	ENST00000330597.3:c.364G>T	11.37:g.5269669C>A	ENSP00000327431:p.Glu122*						p.E122*	NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	451	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	122		E -> K (in Siena/Hull).			P02096|P62027|Q549G1|Q8TDA1|Q96FH7	Nonsense_Mutation	SNP	ENST00000330597.3	37	c.364G>T	CCDS7754.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338169	0.41398	.	.	ENSG00000213934	ENST00000330597;ENST00000380256	.	.	.	2.59	1.65	0.23941	.	0.495862	0.19399	U	0.115236	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.3349	0.26605	0.0:0.856:0.0:0.144	.	.	.	.	X	122	.	ENSP00000327431:E122X	E	-	1	0	HBG1	5226245	0.994000	0.37717	0.439000	0.26833	0.221000	0.24807	3.587000	0.53957	0.404000	0.25506	0.462000	0.41574	GAA		0.517	HBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142982.1	NM_000559		27	29	1	0	8.16721e-17	1	1.09032e-16	27	29				
NCL	4691	broad.mit.edu	37	2	232322392	232322392	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:232322392T>G	ENST00000322723.4	-	9	1649	c.1409A>C	c.(1408-1410)aAt>aCt	p.N470T	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA|SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	470					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ATAGTCTTGATTTTGACCTTT	0.418																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(1408-1410)aAt>aCt		nucleolin							161.0	156.0	157.0					2																	232322392		2202	4300	6502	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232322392T>G		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1409A>C	2.37:g.232322392T>G	ENSP00000318195:p.Asn470Thr						p.N470T	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	9	1649	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	470					Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.1409A>C	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643611	0.29246	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	D;T	0.84070	-1.8;-0.8	5.52	-4.31	0.03698	Nucleotide-binding, alpha-beta plait (1);	1.169020	0.05990	N	0.645857	T	0.75295	0.3830	N	0.20986	0.625	0.09310	N	1	P	0.35383	0.498	B	0.39660	0.306	T	0.64326	-0.6434	10	0.35671	T	0.21	0.0348	14.471	0.67517	0.0:0.3019:0.0:0.6981	.	470	P19338	NUCL_HUMAN	T	470;362;242;71	ENSP00000318195:N470T;ENSP00000349410:N71T	ENSP00000318195:N470T	N	-	2	0	NCL	232030636	0.091000	0.21658	0.133000	0.22050	0.972000	0.66771	0.085000	0.14912	-1.376000	0.02126	-0.479000	0.04858	AAT		0.418	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		38	61	0	0	0	1	0	38	61				
NDUFV2	4729	broad.mit.edu	37	18	9134277	9134277	+	Nonstop_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:9134277A>C	ENST00000318388.6	+	8	864	c.750A>C	c.(748-750)taA>taC	p.*250Y	NDUFV2_ENST00000400033.1_Nonstop_Mutation_p.*253Y|ANKRD12_ENST00000262126.4_5'Flank|RP11-143J12.2_ENST00000583081.1_RNA|ANKRD12_ENST00000383440.2_5'Flank|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000608008.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	0					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						CAGGCCTTTAATTTATATTGA	0.403																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(757-759)taA>taC		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						59.0	62.0	61.0					18																	9134277		2203	4300	6503	SO:0001578	stop_lost	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9134277A>C	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.750A>C	18.37:g.9134277A>C	ENSP00000327268:p.*250Tyrext*?					RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Nonstop_Mutation_p.*250Y|RP11-143J12.2_ENST00000582375.1_RNA	p.*253Y			P19404	NDUV2_HUMAN			9	876	+			0					Q9BV41	Nonstop_Mutation	SNP	ENST00000318388.6	37	c.759A>C	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.651856	0.67472	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.25	0.82478	1.0:0.0:0.0:0.0	.	.	.	.	Y	250;253	.	.	X	+	3	2	NDUFV2	9124277	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	0.922000	0.28734	2.317000	0.78254	0.460000	0.39030	TAA		0.403	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		15	29	0	0	0	1	0	15	29				
MAPRE1	22919	broad.mit.edu	37	20	31424467	31424467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31424467G>T	ENST00000375571.5	+	4	434	c.295G>T	c.(295-297)Gga>Tga	p.G99*		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	99	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						ATTAGTAAAAGGAAAGTTTCA	0.393																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(295-297)Gga>Tga		microtubule-associated protein, RP/EB family, member 1							52.0	54.0	53.0					20																	31424467		2203	4299	6502	SO:0001587	stop_gained	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31424467G>T	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.295G>T	20.37:g.31424467G>T	ENSP00000364721:p.Gly99*						p.G99*	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			4	434	+			99			CH.		B2R6I7|E1P5M8|Q3KQS8	Nonsense_Mutation	SNP	ENST00000375571.5	37	c.295G>T	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	37	6.006369	0.97195	.	.	ENSG00000101367	ENST00000375571	.	.	.	4.45	4.45	0.53987	.	0.051195	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.0838	16.6237	0.84936	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000364721:G99X	G	+	1	0	MAPRE1	30888128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.422000	0.97458	2.465000	0.83290	0.655000	0.94253	GGA		0.393	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		11	30	1	0	2.27111e-07	1	2.60515e-07	11	30				
SAP130	79595	broad.mit.edu	37	2	128783864	128783864	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:128783864C>A	ENST00000259235.3	-	2	210	c.81G>T	c.(79-81)atG>atT	p.M27I	SAP130_ENST00000259234.6_Start_Codon_SNP_p.M1I|SAP130_ENST00000357702.5_Missense_Mutation_p.M27I	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	27					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTTGAGAACTCATTTCCACCT	0.423																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(79-81)atG>atT		Sin3A-associated protein, 130kDa							77.0	82.0	80.0					2																	128783864		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128783864C>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.81G>T	2.37:g.128783864C>A	ENSP00000259235:p.Met27Ile					SAP130_ENST00000259234.6_Start_Codon_SNP_p.M1I|SAP130_ENST00000259235.3_Missense_Mutation_p.M27I	p.M27I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	2	212	-	Colorectal(110;0.1)		27					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.81G>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481670	0.84747	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	L	0.36672	1.1	0.80722	D	1	D;P;P	0.53745	0.962;0.908;0.908	D;P;P	0.66716	0.946;0.888;0.888	T	0.63786	-0.6558	9	0.36615	T	0.2	-23.1093	15.6615	0.77190	0.0:1.0:0.0:0.0	.	27;1;27	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	I	27;27;1;1;1	.	ENSP00000259234:M1I	M	-	3	0	SAP130	128500334	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.722000	0.61958	2.422000	0.82143	0.555000	0.69702	ATG		0.423	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		20	48	1	0	4.35082e-09	1	5.20082e-09	20	48				
SLC35G5	83650	broad.mit.edu	37	8	11189077	11189077	+	Silent	SNP	C	C	T	rs143735406		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:11189077C>T	ENST00000382435.4	+	1	681	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	154	EamA 1.					integral component of membrane (GO:0016021)											GCCAGGGTCTCGGTGGCTACG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		21201	0.001		0.0	False		,,,				2504	0.0					ENST00000382435.4																			0											c.(460-462)ctC>ctT		solute carrier family 35, member G5		C		3,4403	6.2+/-15.9	0,3,2200	178.0	164.0	169.0		462	0.3	0.7	8	dbSNP_134	169	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLC35G5	NM_054028.1		0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538		154/339	11189077	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	83650					integral to membrane		g.chr8:11189077C>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.462C>T	8.37:g.11189077C>T							p.L154L	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	681	+			154			DUF6 1.		A2RRL6	Silent	SNP	ENST00000382435.4	37	c.462C>T	CCDS5980.1																																																																																				0.587	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		103	141	0	0	0	1	0	103	141				
GSTT2	2953	broad.mit.edu	37	22	24323182	24323182	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24323182G>A	ENST00000215780.5	+	2	206	c.156G>A	c.(154-156)ggG>ggA	p.G52G	GSTT2_ENST00000402588.3_Silent_p.G52G|DDT_ENST00000350608.3_5'Flank|DDT_ENST00000404092.1_5'Flank	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	52	GST N-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			lung(1)	1						ACAGCCTGGGGAAACTGCCGA	0.542																																						ENST00000215780.5																			0				lung(1)	1						c.(154-156)ggG>ggA		glutathione S-transferase theta 2							261.0	220.0	234.0					22																	24323182		2203	4298	6501	SO:0001819	synonymous_variant	2953					cytoplasm	glutathione transferase activity	g.chr22:24323182G>A	L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.156G>A	22.37:g.24323182G>A						GSTT2_ENST00000402588.3_Silent_p.G52G	p.G52G	NM_000854.3	NP_000845.1	P0CG30	GSTT2_HUMAN			2	206	+			52			GST N-terminal.		O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	ENST00000215780.5	37	c.156G>A	CCDS13821.1																																																																																				0.542	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320080.1	NM_000854		27	90	0	0	0	1	0	27	90				
SEMA6D	80031	broad.mit.edu	37	15	48060931	48060931	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48060931C>T	ENST00000316364.5	+	18	2358	c.1919C>T	c.(1918-1920)tCg>tTg	p.S640L	SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S640L|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S621L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	640					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GATCCTTTATCGGGTATCCCA	0.448																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1918-1920)tCg>tTg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							122.0	117.0	119.0					15																	48060931		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48060931C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1919C>T	15.37:g.48060931C>T	ENSP00000324857:p.Ser640Leu					SEMA6D_ENST00000389433.2_Missense_Mutation_p.S621L|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S640L|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558816.1_Intron	p.S640L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	18	2358	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	640					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1919C>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.796190	0.70567	.	.	ENSG00000137872	ENST00000536845;ENST00000316364;ENST00000389433	T;T;T	0.43294	0.95;0.95;0.95	5.49	5.49	0.81192	.	0.348274	0.30850	N	0.008753	T	0.26846	0.0657	N	0.14661	0.345	0.80722	D	1	P	0.35844	0.524	B	0.20184	0.028	T	0.09487	-1.0672	10	0.46703	T	0.11	.	19.7433	0.96241	0.0:1.0:0.0:0.0	.	640	Q8NFY4	SEM6D_HUMAN	L	640;640;621	ENSP00000446152:S640L;ENSP00000324857:S640L;ENSP00000374084:S621L	ENSP00000324857:S640L	S	+	2	0	SEMA6D	45848223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.733000	0.93635	0.655000	0.94253	TCG		0.448	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		4	74	0	0	0	1	0	4	74				
CDC5L	988	broad.mit.edu	37	6	44393877	44393877	+	Missense_Mutation	SNP	G	G	A	rs374722205		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44393877G>A	ENST00000371477.3	+	12	1906	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	536	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.|Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAATGAAACGAATGCATAAA	0.348																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1606-1608)cGa>cAa		cell division cycle 5-like		G	GLN/ARG	0,4406		0,0,2203	112.0	109.0	110.0		1607	4.7	1.0	6		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDC5L	NM_001253.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	536/803	44393877	1,13005	2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44393877G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1607G>A	6.37:g.44393877G>A	ENSP00000360532:p.Arg536Gln						p.R536Q	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	1906	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		536			Interaction with DAPK3 (By similarity).|Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1607G>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711820	0.48517	0.0	1.16E-4	ENSG00000096401	ENST00000371477	T	0.48836	0.8	5.62	4.73	0.59995	.	0.268589	0.36034	N	0.002822	T	0.23054	0.0557	L	0.42529	1.33	0.36608	D	0.875037	B	0.29646	0.253	B	0.22880	0.042	T	0.18524	-1.0334	10	0.54805	T	0.06	-7.2411	9.418	0.38534	0.0716:0.0:0.7847:0.1437	.	536	Q99459	CDC5L_HUMAN	Q	536	ENSP00000360532:R536Q	ENSP00000360532:R536Q	R	+	2	0	CDC5L	44501855	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.866000	0.56040	2.660000	0.90430	0.655000	0.94253	CGA		0.348	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			13	32	0	0	0	1	0	13	32				
HMGXB4	10042	broad.mit.edu	37	22	35661203	35661203	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:35661203C>T	ENST00000216106.5	+	5	950	c.822C>T	c.(820-822)ttC>ttT	p.F274F	HMGXB4_ENST00000444518.2_Silent_p.F165F	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	274					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)	p.F274F(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCCCAGTTCGCAGAGTCCC	0.522																																						ENST00000216106.5																			1	Substitution - coding silent(1)	p.F274F(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(820-822)ttC>ttT		HMG box domain containing 4							75.0	73.0	73.0					22																	35661203		2203	4300	6503	SO:0001819	synonymous_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661203C>T	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.822C>T	22.37:g.35661203C>T						HMGXB4_ENST00000444518.2_Silent_p.F165F	p.F274F	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	950	+			274					O75672|O75673|Q9UMT5	Silent	SNP	ENST00000216106.5	37	c.822C>T	CCDS33641.1																																																																																				0.522	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		23	47	0	0	0	1	0	23	47				
CYFIP2	26999	broad.mit.edu	37	5	156816422	156816422	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156816422G>A	ENST00000521420.1	+	28	3446	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	CYFIP2_ENST00000377576.3_Missense_Mutation_p.E1145K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E1070K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E844K|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E1170K|CYFIP2_ENST00000347377.6_Missense_Mutation_p.E1145K|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E949K					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAACCAACGAGTTCACAGC	0.597																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(3433-3435)Gag>Aag		cytoplasmic FMR1 interacting protein 2							44.0	50.0	48.0					5																	156816422		2133	4256	6389	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156816422G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3355G>A	5.37:g.156816422G>A	ENSP00000430904:p.Glu1119Lys					CYFIP2_ENST00000522463.1_Missense_Mutation_p.E949K|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E1070K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E844K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E1170K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E1145K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E1119K	p.E1145K	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		29	3864	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	1170						Missense_Mutation	SNP	ENST00000521420.1	37	c.3433G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.493941	0.96339	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	M	0.86178	2.8	0.80722	D	1	P;D;D;D;D;P	0.89917	0.949;0.994;1.0;0.962;0.97;0.911	B;P;D;B;P;P	0.79784	0.362;0.846;0.993;0.297;0.637;0.899	T	0.64850	-0.6310	10	0.44086	T	0.13	-28.3827	18.5245	0.90967	0.0:0.0:1.0:0.0	.	1009;949;1119;1145;1145;1170	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	K	1170;949;1119;1145;1145;1070;844	ENSP00000325817:E1170K;ENSP00000428009:E949K;ENSP00000430904:E1119K;ENSP00000313567:E1145K;ENSP00000366799:E1145K;ENSP00000444645:E1070K;ENSP00000403793:E844K	ENSP00000325817:E1170K	E	+	1	0	CYFIP2	156749000	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.563000	0.98148	2.434000	0.82447	0.655000	0.94253	GAG		0.597	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		15	21	0	0	0	1	0	15	21				
WBP1	23559	broad.mit.edu	37	2	74687176	74687176	+	Splice_Site	SNP	C	C	T	rs372471724		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74687176C>T	ENST00000233615.2	+	3	623	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	WBP1_ENST00000393972.3_Splice_Site_p.R151C|WBP1_ENST00000409737.1_Splice_Site_p.R114C|WBP1_ENST00000494741.1_3'UTR|MOGS_ENST00000462443.1_5'Flank	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	117							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GCTTGACCTTCGTGAGTGACT	0.527																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.e4+1		WW domain binding protein 1		C	CYS/ARG	0,4406		0,0,2203	90.0	90.0	90.0		349	3.7	1.0	2		90	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	WBP1	NM_012477.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	117/270	74687176	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	23559						WW domain binding	g.chr2:74687176C>T	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.349+1C>T	2.37:g.74687176C>T						WBP1_ENST00000409737.1_Splice_Site_p.R114_splice|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Splice_Site_p.R117_splice	p.R151_splice			Q96G27	WBP1_HUMAN			4	654	+			117					B2RE02|O95637	Splice_Site	SNP	ENST00000233615.2	37	c.451_splice	CCDS1943.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383258	0.61845	0.0	1.16E-4	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737;ENST00000428943	.	.	.	4.66	3.74	0.42951	.	.	.	.	.	T	0.67739	0.2925	L	0.50333	1.59	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.87578	0.986;0.998	T	0.69250	-0.5194	8	0.87932	D	0	-13.3417	10.0884	0.42432	0.1989:0.8011:0.0:0.0	.	114;117	B8ZZ95;Q96G27	.;WBP1_HUMAN	C	117;151;114;176	.	ENSP00000233615:R117C	R	+	1	0	WBP1	74540684	0.274000	0.24191	1.000000	0.80357	0.992000	0.81027	0.359000	0.20233	2.411000	0.81874	0.655000	0.94253	CGC		0.527	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477	Missense_Mutation	27	69	0	0	0	1	0	27	69				
TRA2A	29896	broad.mit.edu	37	7	23547091	23547091	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23547091T>C	ENST00000297071.4	-	5	805	c.589A>G	c.(589-591)Acc>Gcc	p.T197A	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Missense_Mutation_p.T96A|TRA2A_ENST00000392502.4_Missense_Mutation_p.T96A	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	197	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GCTCTCTTGGTTATAGAATAA	0.418																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(589-591)Acc>Gcc		transformer 2 alpha homolog (Drosophila)							258.0	245.0	249.0					7																	23547091		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23547091T>C	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.589A>G	7.37:g.23547091T>C	ENSP00000297071:p.Thr197Ala					TRA2A_ENST00000538367.1_Missense_Mutation_p.T96A|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_Missense_Mutation_p.T96A	p.T197A	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			5	805	-			197			RRM.		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.589A>G	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045616	0.93685	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.74421	-0.84;-0.84;-0.84	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	L	0.55990	1.75	0.80722	D	1	D	0.59357	0.985	P	0.62089	0.898	D	0.83602	0.0129	10	0.62326	D	0.03	-3.9083	15.7107	0.77626	0.0:0.0:0.0:1.0	.	197	Q13595	TRA2A_HUMAN	A	197;96;96	ENSP00000297071:T197A;ENSP00000376290:T96A;ENSP00000441116:T96A	ENSP00000297071:T197A	T	-	1	0	TRA2A	23513616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.011000	0.88624	2.115000	0.64714	0.529000	0.55759	ACC		0.418	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		28	72	0	0	0	1	0	28	72				
TULP3	7289	broad.mit.edu	37	12	3018701	3018701	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:3018701C>T	ENST00000448120.2	+	2	99	c.48C>T	c.(46-48)ttC>ttT	p.F16F	TULP3_ENST00000397132.2_Silent_p.F16F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	16					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACAGTGTCTTCCATGAAGAAA	0.358																																						ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(46-48)ttC>ttT		tubby like protein 3							143.0	137.0	139.0					12																	3018701		2203	4300	6503	SO:0001819	synonymous_variant	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3018701C>T	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.48C>T	12.37:g.3018701C>T						TULP3_ENST00000397132.2_Silent_p.F16F	p.F16F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		2	99	+			16					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Silent	SNP	ENST00000448120.2	37	c.48C>T	CCDS8519.1																																																																																				0.358	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		32	61	0	0	0	1	0	32	61				
PRPF38B	55119	broad.mit.edu	37	1	109238722	109238722	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109238722T>G	ENST00000370025.4	+	3	672	c.403T>G	c.(403-405)Tta>Gta	p.L135V	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370021.1_Missense_Mutation_p.L24V|PRPF38B_ENST00000370022.5_Missense_Mutation_p.L135V	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	135					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GTTATACAAATTATTTACCCT	0.363																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(70-72)Tta>Gta		pre-mRNA processing factor 38B							114.0	113.0	114.0					1																	109238722		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109238722T>G	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.403T>G	1.37:g.109238722T>G	ENSP00000359042:p.Leu135Val					PRPF38B_ENST00000370025.4_Missense_Mutation_p.L135V|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.L135V	p.L24V			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	4	707	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	135					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.70T>G	CCDS788.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321268	0.81580	.	.	ENSG00000134186	ENST00000370025;ENST00000370022;ENST00000370021	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.78496	0.4292	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83720	0.0192	9	0.87932	D	0	.	9.9425	0.41589	0.0:0.0763:0.0:0.9237	.	135	Q5VTL8	PR38B_HUMAN	V	135;135;24	.	ENSP00000359038:L24V	L	+	1	2	PRPF38B	109040245	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.366000	0.52343	2.069000	0.61940	0.482000	0.46254	TTA		0.363	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		4	47	0	0	0	1	0	4	47				
IPCEF1	26034	broad.mit.edu	37	6	154481002	154481002	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:154481002C>A	ENST00000265198.4	-	12	1430	c.1275G>T	c.(1273-1275)aaG>aaT	p.K425N	IPCEF1_ENST00000422970.2_Missense_Mutation_p.K426N|IPCEF1_ENST00000519344.1_Missense_Mutation_p.K397N|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Missense_Mutation_p.K426N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	425					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						AAGGTGATTTCTTGAGTTCCT	0.463																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.(1273-1275)aaG>aaT		interaction protein for cytohesin exchange factors 1							63.0	66.0	65.0					6																	154481002		2203	4300	6503	SO:0001583	missense	26034							g.chr6:154481002C>A	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1275G>T	6.37:g.154481002C>A	ENSP00000265198:p.Lys425Asn					OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519344.1_Missense_Mutation_p.K397N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.K426N|IPCEF1_ENST00000422970.2_Missense_Mutation_p.K426N	p.K425N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1					12	1430	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	c.1275G>T	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673148	0.29693	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.15017	2.47;2.46;2.46;2.47	5.32	2.6	0.31112	.	1.799370	0.02662	N	0.107606	T	0.03959	0.0111	N	0.22421	0.69	0.09310	N	1	B;B;B	0.22346	0.023;0.039;0.068	B;B;B	0.21546	0.016;0.035;0.035	T	0.37314	-0.9711	10	0.20046	T	0.44	-19.5575	8.4785	0.33027	0.0:0.7027:0.0:0.2973	.	425;426;397	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	N	425;426;426;397	ENSP00000265198:K425N;ENSP00000394751:K426N;ENSP00000356189:K426N;ENSP00000430287:K397N	ENSP00000265198:K425N	K	-	3	2	IPCEF1	154522694	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	0.984000	0.29565	0.256000	0.21614	-0.244000	0.11960	AAG		0.463	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		6	32	1	0	0.217242	1	0.218251	6	32				
KRTAP19-3	337970	broad.mit.edu	37	21	31864143	31864143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:31864143C>A	ENST00000334063.4	-	1	132	c.133G>T	c.(133-135)Gga>Tga	p.G45*		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	45						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						GAGCCATATCCGTAGCCTCCA	0.567																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(133-135)Gga>Tga		keratin associated protein 19-3							186.0	191.0	189.0					21																	31864143		2203	4300	6503	SO:0001587	stop_gained	337970					intermediate filament		g.chr21:31864143C>A	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.133G>T	21.37:g.31864143C>A	ENSP00000386376:p.Gly45*						p.G45*	NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN			1	132	-			45						Nonsense_Mutation	SNP	ENST00000334063.4	37	c.133G>T	CCDS13596.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597915	0.28445	.	.	ENSG00000244025	ENST00000334063	.	.	.	3.02	-0.173	0.13322	.	0.000000	0.39274	U	0.001402	.	.	.	.	.	.	0.26426	N	0.976029	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.319	0.32117	0.0:0.7473:0.0:0.2527	.	.	.	.	X	45	.	ENSP00000386376:G45X	G	-	1	0	KRTAP19-3	30786014	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.669000	0.05262	-0.371000	0.08004	-1.718000	0.00708	GGA		0.567	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			143	245	1	0	1.13124e-70	1	1.64409e-70	143	245				
ZNF549	256051	broad.mit.edu	37	19	58049766	58049766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58049766G>T	ENST00000376233.3	+	4	1575	c.1394G>T	c.(1393-1395)aGa>aTa	p.R465I	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R452I	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGACACCAGAGAATTCACACT	0.428																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1393-1395)aGa>aTa		zinc finger protein 549							64.0	62.0	63.0					19																	58049766		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049766G>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1394G>T	19.37:g.58049766G>T	ENSP00000365407:p.Arg465Ile					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R452I	p.R465I	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1575	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	465					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1394G>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159626	0.57368	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.24908	1.83;1.83	2.77	-1.41	0.08941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41858	0.1177	M	0.77103	2.36	0.36970	D	0.893781	P;D	0.61697	0.898;0.99	P;D	0.63033	0.505;0.91	T	0.49725	-0.8909	9	0.52906	T	0.07	.	7.2526	0.26158	0.4023:0.0:0.5977:0.0	.	465;452	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	I	452;465	ENSP00000240719:R452I;ENSP00000365407:R465I	ENSP00000240719:R452I	R	+	2	0	ZNF549	62741578	0.000000	0.05858	0.012000	0.15200	0.994000	0.84299	-0.125000	0.10579	-0.125000	0.11703	-0.225000	0.12378	AGA		0.428	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		21	39	1	0	6.33239e-15	1	8.29613e-15	21	39				
FGF7	2252	broad.mit.edu	37	15	49775360	49775360	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49775360T>G	ENST00000267843.4	+	3	910	c.299T>G	c.(298-300)aTc>aGc	p.I100S	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	100					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		ATCATGGAAATCAGGACAGTG	0.373																																						ENST00000267843.4																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(298-300)aTc>aGc		fibroblast growth factor 7	Palifermin(DB00039)						90.0	93.0	92.0					15																	49775360		1354	2288	3642	SO:0001583	missense	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49775360T>G	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.299T>G	15.37:g.49775360T>G	ENSP00000267843:p.Ile100Ser					FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	p.I100S	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	3	910	+		all_lung(180;0.00391)	100					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.299T>G	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382175	0.82792	.	.	ENSG00000140285	ENST00000267843	D	0.83673	-1.75	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92404	0.5932	9	0.87932	D	0	.	14.9724	0.71243	0.0:0.0:0.0:1.0	.	100	P21781	FGF7_HUMAN	S	100	ENSP00000267843:I100S	ENSP00000267843:I100S	I	+	2	0	FGF7	47562652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	1.934000	0.56057	0.528000	0.53228	ATC		0.373	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		14	44	0	0	0	1	0	14	44				
SORL1	6653	broad.mit.edu	37	11	121456952	121456952	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:121456952G>A	ENST00000260197.7	+	27	3857	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	SORL1_ENST00000534286.1_Missense_Mutation_p.R153H|SORL1_ENST00000525532.1_Missense_Mutation_p.R187H|SORL1_ENST00000532694.1_Missense_Mutation_p.R89H	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1243	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AATGGATTCCGCTGCCCAAAC	0.507																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3727-3729)cGc>cAc		sortilin-related receptor, L(DLR class) A repeats containing							179.0	171.0	173.0					11																	121456952		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121456952G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3728G>A	11.37:g.121456952G>A	ENSP00000260197:p.Arg1243His					SORL1_ENST00000532694.1_Missense_Mutation_p.R89H|SORL1_ENST00000525532.1_Missense_Mutation_p.R187H|SORL1_ENST00000534286.1_Missense_Mutation_p.R153H	p.R1243H	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	27	3857	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1243			LDL-receptor class A 5.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.3728G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731791	0.48939	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.7	1.17	0.20885	.	0.434784	0.25027	N	0.033717	D	0.91382	0.7281	L	0.52759	1.655	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	D	0.83820	0.0246	10	0.35671	T	0.21	.	7.9957	0.30267	0.6475:0.0:0.3525:0.0	.	1243	Q92673	SORL_HUMAN	H	1243;187;89;153	ENSP00000260197:R1243H;ENSP00000434634:R187H;ENSP00000432131:R89H;ENSP00000436447:R153H	ENSP00000260197:R1243H	R	+	2	0	SORL1	120962162	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.419000	0.34793	0.177000	0.19895	0.591000	0.81541	CGC		0.507	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		39	74	0	0	0	1	0	39	74				
RBP3	5949	broad.mit.edu	37	10	48388279	48388279	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48388279C>T	ENST00000224600.4	-	1	2712	c.2599G>A	c.(2599-2601)Gtc>Atc	p.V867I	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	867	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCCCAATGACCGTGGCCCGC	0.632																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2599-2601)Gtc>Atc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						19.0	20.0	20.0					10																	48388279		2200	4294	6494	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388279C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2599G>A	10.37:g.48388279C>T	ENSP00000224600:p.Val867Ile						p.V867I	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2712	-			867			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2599G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774360	0.31411	.	.	ENSG00000107618	ENST00000224600	T	0.64991	-0.13	5.35	3.33	0.38152	Interphotoreceptor retinol-binding (2);	0.171100	0.40640	N	0.001053	T	0.44307	0.1287	N	0.19112	0.55	0.40371	D	0.979345	B	0.19817	0.039	B	0.23150	0.044	T	0.29579	-1.0007	10	0.48119	T	0.1	-38.1938	7.9435	0.29971	0.0:0.7244:0.0:0.2756	.	867	P10745	RET3_HUMAN	I	867	ENSP00000224600:V867I	ENSP00000224600:V867I	V	-	1	0	RBP3	48008285	0.371000	0.25056	0.433000	0.26760	0.918000	0.54935	0.930000	0.28858	0.534000	0.28695	0.561000	0.74099	GTC		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		10	28	0	0	0	1	0	10	28				
RAPGEF5	9771	broad.mit.edu	37	7	22349699	22349699	+	Missense_Mutation	SNP	C	C	T	rs546589264		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:22349699C>T	ENST00000405243.1	-	4	483	c.400G>A	c.(400-402)Gtt>Att	p.V134I	RAPGEF5_ENST00000344041.6_5'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTGACCCAACGCAGCTCCTC	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18558	0.0		0.0	False		,,,				2504	0.0					ENST00000405243.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(400-402)Gtt>Att		Rap guanine nucleotide exchange factor (GEF) 5							42.0	39.0	40.0					7																	22349699		692	1591	2283	SO:0001583	missense	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22349699C>T	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.400G>A	7.37:g.22349699C>T	ENSP00000384870:p.Val134Ile					RAPGEF5_ENST00000344041.6_5'UTR	p.V134I			Q92565	RPGF5_HUMAN			4	483	-			0			N-terminal Ras-GEF.		A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000405243.1	37	c.400G>A		.	.	.	.	.	.	.	.	.	.	C	14.19	2.460356	0.43736	.	.	ENSG00000136237	ENST00000405243	T	0.20069	2.1	5.26	4.38	0.52667	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00681	-1.1612	6	0.21540	T	0.41	.	11.4909	0.50381	0.0:0.8632:0.0:0.1368	.	.	.	.	I	134	ENSP00000384870:V134I	ENSP00000384870:V134I	V	-	1	0	RAPGEF5	22316224	0.959000	0.32827	0.996000	0.52242	0.975000	0.68041	2.021000	0.41020	2.840000	0.97914	0.655000	0.94253	GTT		0.438	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326591.1	NM_012294		6	22	0	0	0	1	0	6	22				
MON2	23041	broad.mit.edu	37	12	62931428	62931428	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:62931428C>T	ENST00000393632.2	+	16	2451	c.2060C>T	c.(2059-2061)gCg>gTg	p.A687V	MON2_ENST00000393630.3_Missense_Mutation_p.A687V|MON2_ENST00000552738.1_Missense_Mutation_p.A664V|MON2_ENST00000280379.6_Missense_Mutation_p.A687V|MON2_ENST00000393629.2_Missense_Mutation_p.A687V|MON2_ENST00000546600.1_Missense_Mutation_p.A687V|MON2_ENST00000552115.1_Missense_Mutation_p.A687V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	687					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTTAACTTGGCGCATTGCCAT	0.338																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(2059-2061)gCg>gTg		MON2 homolog (S. cerevisiae)							126.0	122.0	123.0					12																	62931428		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62931428C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2060C>T	12.37:g.62931428C>T	ENSP00000377252:p.Ala687Val					MON2_ENST00000552115.1_Missense_Mutation_p.A687V|MON2_ENST00000393632.2_Missense_Mutation_p.A687V|MON2_ENST00000552738.1_Missense_Mutation_p.A664V|MON2_ENST00000393629.2_Missense_Mutation_p.A687V|MON2_ENST00000280379.6_Missense_Mutation_p.A687V|MON2_ENST00000546600.1_Missense_Mutation_p.A687V	p.A687V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	16	2451	+			687					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.2060C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400209	0.96030	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.68479	-0.18;-0.18;-0.2;-0.17;-0.33;-0.17;-0.24	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.83436	0.5254	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.999;1.0	D;D;D;D	0.79784	0.99;0.927;0.966;0.993	T	0.83027	-0.0164	9	.	.	.	-15.8946	20.024	0.97514	0.0:1.0:0.0:0.0	.	687;664;687;687	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	V	687;687;687;687;615;664;687;687	ENSP00000377252:A687V;ENSP00000377250:A687V;ENSP00000280379:A687V;ENSP00000447407:A687V;ENSP00000449215:A664V;ENSP00000377249:A687V;ENSP00000446635:A687V	.	A	+	2	0	MON2	61217695	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.757000	0.85209	2.718000	0.92993	0.655000	0.94253	GCG		0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		24	49	0	0	0	1	0	24	49				
MDC1	9656	broad.mit.edu	37	6	30673581	30673581	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30673581G>A	ENST00000376406.3	-	10	4026	c.3379C>T	c.(3379-3381)Ccc>Tcc	p.P1127S	MDC1_ENST00000376405.2_Missense_Mutation_p.P863S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1127	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GAAGGGTGGGGCTCAGGGGCA	0.567								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(3379-3381)Ccc>Tcc	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							127.0	144.0	139.0					6																	30673581		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673581G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3379C>T	6.37:g.30673581G>A	ENSP00000365588:p.Pro1127Ser					MDC1_ENST00000376405.2_Missense_Mutation_p.P863S|MDC1-AS1_ENST00000442150.1_RNA	p.P1127S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	4026	-			1127	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3379C>T	CCDS34384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.844|8.844	0.942904|0.942904	0.18281|0.18281	.|.	.|.	ENSG00000137337|ENSG00000137337	ENST00000417033|ENST00000376406;ENST00000376405;ENST00000422104	.|T;T	.|0.12569	.|2.67;2.67	3.33|3.33	1.5|1.5	0.22942|0.22942	.|.	.|0.494819	.|0.15223	.|N	.|0.273816	T|T	0.03564|0.03564	0.0102|0.0102	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32753	.|0.383;0.021	.|B;B	.|0.42738	.|0.396;0.038	T|T	0.43718|0.43718	-0.9374|-0.9374	5|10	.|0.08837	.|T	.|0.75	-0.7103|-0.7103	4.2848|4.2848	0.10850|0.10850	0.1233:0.0:0.6545:0.2223|0.1233:0.0:0.6545:0.2223	.|.	.|863;1127	.|Q14676-2;Q14676	.|.;MDC1_HUMAN	V|S	187|1127;863;734	.|ENSP00000365588:P1127S;ENSP00000365587:P863S	.|ENSP00000365587:P863S	A|P	-|-	2|1	0|0	MDC1|MDC1	30781560|30781560	.|.	.|.	0.000000|0.000000	0.03702|0.03702	0.914000|0.914000	0.54420|0.54420	.|.	.|.	0.414000|0.414000	0.25790|0.25790	0.423000|0.423000	0.28283|0.28283	GCC|CCC		0.567	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	220	0	0	0	1	0	6	220				
MS4A12	54860	broad.mit.edu	37	11	60268548	60268548	+	Missense_Mutation	SNP	A	A	G	rs550483956		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60268548A>G	ENST00000016913.4	+	3	364	c.307A>G	c.(307-309)Att>Gtt	p.I103V	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	103						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTGATGCACATTGGTTTTGG	0.373													A|||	1	0.000199681	0.0	0.0	5008	,	,		20908	0.0		0.0	False		,,,				2504	0.001					ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(307-309)Att>Gtt		membrane-spanning 4-domains, subfamily A, member 12							292.0	286.0	288.0					11																	60268548		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60268548A>G	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.307A>G	11.37:g.60268548A>G	ENSP00000016913:p.Ile103Val					MS4A12_ENST00000537076.1_Intron	p.I103V	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN			3	364	+			103					F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.307A>G	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312270	0.23908	.	.	ENSG00000071203	ENST00000016913;ENST00000530007	T;T	0.53857	4.42;0.6	5.14	-10.3	0.00346	.	0.905711	0.09487	N	0.795553	T	0.34571	0.0902	L	0.39397	1.21	0.20307	N	0.999919	B	0.30179	0.271	B	0.34652	0.187	T	0.21008	-1.0258	10	0.32370	T	0.25	-2.9682	6.4699	0.22003	0.3284:0.2964:0.0:0.3752	.	103	Q9NXJ0	M4A12_HUMAN	V	103	ENSP00000016913:I103V;ENSP00000434783:I103V	ENSP00000016913:I103V	I	+	1	0	MS4A12	60025124	0.293000	0.24371	0.007000	0.13788	0.036000	0.12997	0.220000	0.17660	-1.921000	0.01068	-1.697000	0.00723	ATT		0.373	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			48	124	0	0	0	1	0	48	124				
GRM6	2916	broad.mit.edu	37	5	178418532	178418532	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178418532C>A	ENST00000517717.1	-	4	788	c.750G>T	c.(748-750)aaG>aaT	p.K250N	GRM6_ENST00000231188.5_Missense_Mutation_p.K250N|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	250					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCCTGGGAATCTTGATAGACT	0.602																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(748-750)aaG>aaT		glutamate receptor, metabotropic 6							175.0	176.0	175.0					5																	178418532		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418532C>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.750G>T	5.37:g.178418532C>A	ENSP00000430767:p.Lys250Asn					GRM6_ENST00000517717.1_Missense_Mutation_p.K250N	p.K250N	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	3	928	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	250						Missense_Mutation	SNP	ENST00000517717.1	37	c.750G>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239309	0.79800	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.83914	-1.78;-1.78	5.35	4.46	0.54185	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.92093	0.7494	M	0.92367	3.3	0.45205	D	0.99821	D	0.76494	0.999	D	0.72625	0.978	D	0.92512	0.6017	9	0.51188	T	0.08	.	12.705	0.57056	0.0:0.9145:0.0:0.0855	.	250	O15303	GRM6_HUMAN	N	277;250;250	ENSP00000231188:K250N;ENSP00000430767:K250N	ENSP00000231188:K250N	K	-	3	2	GRM6	178351138	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.934000	0.40163	2.677000	0.91161	0.561000	0.74099	AAG		0.602	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			5	248	1	0	1	1	1	5	248				
GRK4	2868	broad.mit.edu	37	4	3011413	3011413	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3011413T>C	ENST00000398052.4	+	7	918	c.575T>C	c.(574-576)gTt>gCt	p.V192A	GRK4_ENST00000504933.1_Missense_Mutation_p.V192A|GRK4_ENST00000345167.6_Missense_Mutation_p.V160A|GRK4_ENST00000398051.4_Missense_Mutation_p.V160A	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CATTACAGAGTTCTAGGAAAA	0.443																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(574-576)gTt>gCt		G protein-coupled receptor kinase 4							117.0	106.0	110.0					4																	3011413		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3011413T>C		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.575T>C	4.37:g.3011413T>C	ENSP00000381129:p.Val192Ala					GRK4_ENST00000398051.4_Missense_Mutation_p.V160A|GRK4_ENST00000345167.6_Missense_Mutation_p.V160A|GRK4_ENST00000504933.1_Missense_Mutation_p.V192A	p.V192A	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	918	+			192			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.575T>C	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	T	32	5.138933	0.94560	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.48750	0.1517	M	0.67625	2.065	0.80722	D	1	P;P;D;D	0.61080	0.912;0.525;0.989;0.984	P;P;P;D	0.65874	0.64;0.526;0.899;0.939	T	0.50065	-0.8871	10	0.87932	D	0	-13.676	15.3254	0.74157	0.0:0.0:0.0:1.0	.	160;160;192;192	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	A	160;192;160;192	ENSP00000381128:V160A;ENSP00000381129:V192A;ENSP00000264764:V160A;ENSP00000427445:V192A	ENSP00000264764:V160A	V	+	2	0	GRK4	2981211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.970000	0.70431	2.217000	0.71921	0.529000	0.55759	GTT		0.443	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		8	54	0	0	0	1	0	8	54				
OR5T3	390154	broad.mit.edu	37	11	56020105	56020105	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56020105C>T	ENST00000303059.3	+	1	430	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L144I(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AGAATGTTTTCTCTTGGCTGC	0.403																																						ENST00000303059.3																			1	Substitution - Missense(1)	p.L144I(1)	large_intestine(1)	breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(430-432)Ctc>Ttc		olfactory receptor, family 5, subfamily T, member 3							197.0	188.0	191.0					11																	56020105		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020105C>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.430C>T	11.37:g.56020105C>T	ENSP00000305403:p.Leu144Phe						p.L144F	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	430	+	Esophageal squamous(21;0.00448)		144					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.430C>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759070	0.31137	.	.	ENSG00000172489	ENST00000303059	T	0.02737	4.18	4.55	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000853	T	0.09512	0.0234	M	0.79258	2.445	0.09310	N	1	D	0.57899	0.981	P	0.61592	0.891	T	0.04140	-1.0974	10	0.72032	D	0.01	.	5.683	0.17786	0.2696:0.5658:0.0:0.1646	.	144	Q8NGG3	OR5T3_HUMAN	F	144	ENSP00000305403:L144F	ENSP00000305403:L144F	L	+	1	0	OR5T3	55776681	0.000000	0.05858	0.524000	0.27887	0.344000	0.29017	-3.007000	0.00649	0.566000	0.29273	0.643000	0.83706	CTC		0.403	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		43	91	0	0	0	1	0	43	91				
RBM48	84060	broad.mit.edu	37	7	92158959	92158959	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92158959T>G	ENST00000265732.5	+	2	322	c.281T>G	c.(280-282)tTt>tGt	p.F94C	PEX1_ENST00000248633.4_5'Flank|PEX1_ENST00000438045.1_5'Flank|RBM48_ENST00000481551.1_Missense_Mutation_p.F94C|PEX1_ENST00000428214.1_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	94	RRM.					nucleus (GO:0005634)	RNA binding (GO:0003723)										CTTATTAAATTTATGAACTTA	0.348																																						ENST00000481551.1																			0											c.(280-282)tTt>tGt		RNA binding motif protein 48							67.0	64.0	65.0					7																	92158959		1828	4080	5908	SO:0001583	missense	84060						nucleotide binding	g.chr7:92158959T>G	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.281T>G	7.37:g.92158959T>G	ENSP00000265732:p.Phe94Cys					RBM48_ENST00000265732.5_Missense_Mutation_p.F94C	p.F94C			Q5RL73	CG064_HUMAN			2	322	+			94					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.281T>G	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347233	0.82022	.	.	ENSG00000127993	ENST00000509224;ENST00000265732;ENST00000481551;ENST00000496410;ENST00000450580	.	.	.	5.23	5.23	0.72850	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.83848	0.5343	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.87090	0.2172	9	0.87932	D	0	.	15.41	0.74911	0.0:0.0:0.0:1.0	.	94;94;94	B4DGJ6;B7Z2K5;Q5RL73	.;.;CG064_HUMAN	C	96;94;94;36;94	.	ENSP00000265732:F94C	F	+	2	0	C7orf64	91996895	1.000000	0.71417	0.918000	0.36340	0.949000	0.60115	5.933000	0.70130	2.097000	0.63578	0.533000	0.62120	TTT		0.348	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		8	17	0	0	0	1	0	8	17				
CPO	130749	broad.mit.edu	37	2	207827337	207827337	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207827337T>C	ENST00000272852.3	+	7	822	c.776T>C	c.(775-777)aTg>aCg	p.M259T		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	259						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CACCCAGAAATGGTGAGTCCA	0.443																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.e7+1		carboxypeptidase O							102.0	98.0	99.0					2																	207827337		2203	4300	6503	SO:0001630	splice_region_variant	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207827337T>C		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.777+1T>C	2.37:g.207827337T>C							p.M259_splice	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	7	822	+			259					Q2M277|Q7RTW7	Splice_Site	SNP	ENST00000272852.3	37	c.777_splice	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460834	0.26248	.	.	ENSG00000144410	ENST00000272852	T	0.10382	2.88	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (2);	0.165675	0.42294	D	0.000733	T	0.15478	0.0373	L	0.55017	1.72	0.31338	N	0.683949	B	0.27625	0.183	B	0.33846	0.171	T	0.05099	-1.0906	10	0.87932	D	0	.	13.6117	0.62083	0.0:0.0:0.0:1.0	.	259	Q8IVL8	CBPO_HUMAN	T	259	ENSP00000272852:M259T	ENSP00000272852:M259T	M	+	2	0	CPO	207535582	1.000000	0.71417	0.967000	0.41034	0.066000	0.16364	7.144000	0.77357	2.313000	0.78055	0.454000	0.30748	ATG		0.443	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077	Missense_Mutation	26	41	0	0	0	1	0	26	41				
ATP1A4	480	broad.mit.edu	37	1	160124942	160124942	+	Silent	SNP	C	C	T	rs140019547	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160124942C>T	ENST00000368081.4	+	3	786	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	105					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.F105F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAACTGTTCGGAGGCTTCT	0.512													C|||	26	0.00519169	0.0197	0.0	5008	,	,		16652	0.0		0.0	False		,,,				2504	0.0					ENST00000368081.4																			1	Substitution - coding silent(1)	p.F105F(1)	large_intestine(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(313-315)ttC>ttT		ATPase, Na+/K+ transporting, alpha 4 polypeptide		C		79,4327	69.8+/-107.6	0,79,2124	88.0	86.0	87.0		315	-9.0	0.0	1	dbSNP_134	87	0,8600		0,0,4300	no	coding-synonymous	ATP1A4	NM_144699.3		0,79,6424	TT,TC,CC		0.0,1.793,0.6074		105/1030	160124942	79,12927	2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160124942C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.315C>T	1.37:g.160124942C>T							p.F105F	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	786	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		105					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.315C>T	CCDS1197.1																																																																																				0.512	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		27	53	0	0	0	1	0	27	53				
SPARCL1	8404	broad.mit.edu	37	4	88400658	88400658	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88400658G>T	ENST00000282470.6	-	10	2360	c.1890C>A	c.(1888-1890)ttC>ttA	p.F630L	SPARCL1_ENST00000503414.1_Missense_Mutation_p.F505L|SPARCL1_ENST00000418378.1_Missense_Mutation_p.F630L	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	630	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ACTCCTCAAAGAAACGGGTTA	0.463																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1888-1890)ttC>ttA		SPARC-like 1 (hevin)							154.0	137.0	142.0					4																	88400658		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88400658G>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1890C>A	4.37:g.88400658G>T	ENSP00000282470:p.Phe630Leu					SPARCL1_ENST00000282470.6_Missense_Mutation_p.F630L|SPARCL1_ENST00000503414.1_Missense_Mutation_p.F505L	p.F630L	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	11	2461	-			630			EF-hand.		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1890C>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547436	0.86022	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.55930	1.11;1.11;0.49	5.11	4.26	0.50523	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74979	-0.3479	10	0.87932	D	0	-11.4013	9.5697	0.39420	0.1623:0.0:0.8377:0.0	.	630	Q14515	SPRL1_HUMAN	L	630;630;505;505	ENSP00000282470:F630L;ENSP00000414856:F630L;ENSP00000422903:F505L	ENSP00000282470:F630L	F	-	3	2	SPARCL1	88619682	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.119000	0.50422	1.481000	0.48307	0.655000	0.94253	TTC		0.463	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			28	78	1	0	2.41591e-17	1	3.2383e-17	28	78				
MAP4K3	8491	broad.mit.edu	37	2	39499439	39499439	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39499439T>C	ENST00000263881.3	-	26	2282	c.1958A>G	c.(1957-1959)gAc>gGc	p.D653G	MAP4K3_ENST00000341681.5_Missense_Mutation_p.D632G|MAP4K3_ENST00000536018.1_Missense_Mutation_p.D206G|MAP4K3_ENST00000437545.1_Missense_Mutation_p.D569G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	653	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CAGTATTCTGTCAGGGAGTTT	0.368																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1957-1959)gAc>gGc		mitogen-activated protein kinase kinase kinase kinase 3							98.0	100.0	99.0					2																	39499439		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39499439T>C	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1958A>G	2.37:g.39499439T>C	ENSP00000263881:p.Asp653Gly					MAP4K3_ENST00000437545.1_Missense_Mutation_p.D569G|MAP4K3_ENST00000536018.1_Missense_Mutation_p.D206G|MAP4K3_ENST00000341681.5_Missense_Mutation_p.D632G	p.D653G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			26	2282	-		all_hematologic(82;0.211)	653			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.1958A>G	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.654545	0.88056	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.72725	-0.68;-0.52;-0.67;2.23	5.48	5.48	0.80851	Citron-like (3);	0.000000	0.85682	D	0.000000	D	0.82337	0.5015	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.76575	0.951;0.988	T	0.82552	-0.0400	10	0.45353	T	0.12	.	15.8756	0.79159	0.0:0.0:0.0:1.0	.	632;653	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	G	653;569;632;206	ENSP00000263881:D653G;ENSP00000416958:D569G;ENSP00000345434:D632G;ENSP00000440580:D206G	ENSP00000263881:D653G	D	-	2	0	MAP4K3	39352943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.295000	0.78780	2.208000	0.71279	0.528000	0.53228	GAC		0.368	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		8	36	0	0	0	1	0	8	36				
MON1A	84315	broad.mit.edu	37	3	49946481	49946481	+	Missense_Mutation	SNP	T	T	C	rs200976109		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49946481T>C	ENST00000417270.1	-	7	2351	c.1658A>G	c.(1657-1659)gAc>gGc	p.D553G	MON1A_ENST00000483022.1_5'Flank|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Missense_Mutation_p.D480G|MON1A_ENST00000296473.3_Missense_Mutation_p.D642G			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	545										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAAGAGGCGGTCTTCCTCTTT	0.582																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(1657-1659)gAc>gGc		MON1 secretory trafficking family member A							53.0	47.0	49.0					3																	49946481		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49946481T>C	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1658A>G	3.37:g.49946481T>C	ENSP00000399613:p.Asp553Gly					MON1A_ENST00000455683.2_Missense_Mutation_p.D480G|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.D642G	p.D553G			Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	7	2351	-			545					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.1658A>G		.	.	.	.	.	.	.	.	.	.	T	23.6	4.435800	0.83885	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.37	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.63428	1.95	0.80722	D	1	B;D	0.89917	0.421;1.0	B;D	0.81914	0.254;0.995	T	0.75221	-0.3394	9	0.56958	D	0.05	-16.0356	12.3158	0.54955	0.0:0.0:0.1415:0.8585	.	480;545	G5E9N1;Q86VX9	.;MON1A_HUMAN	G	642;553;480	.	ENSP00000296473:D642G	D	-	2	0	MON1A	49921485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.294000	0.72738	0.863000	0.35553	0.524000	0.50904	GAC		0.582	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		16	21	0	0	0	1	0	16	21				
SYNE1	23345	broad.mit.edu	37	6	152774635	152774635	+	Intron	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152774635A>G	ENST00000367255.5	-	25	3629				SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000495090.2_Missense_Mutation_p.L605S|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000367253.4_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGAATTTCTAAATTTCTCTT	0.368										HNSCC(10;0.0054)																												ENST00000495090.2																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(1813-1815)tTa>tCa		spectrin repeat containing, nuclear envelope 1																																				SO:0001627	intron_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152774635A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3027+85T>C	6.37:g.152774635A>G		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000448038.1_Intron	p.L605S			Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	12	1822	-		Ovarian(120;0.0955)	7274					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.1814T>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	10.19	1.280706	0.23392	.	.	ENSG00000131018	ENST00000495090	T	0.22336	1.96	4.38	-4.51	0.03483	.	.	.	.	.	T	0.03564	0.0102	.	.	.	0.09310	N	0.999999	B	0.22983	0.078	B	0.17098	0.017	T	0.42816	-0.9429	8	0.72032	D	0.01	.	1.2404	0.01961	0.3487:0.2285:0.0839:0.3389	.	605	F5H422	.	S	605	ENSP00000438508:L605S	ENSP00000438508:L605S	L	-	2	0	SYNE1	152816328	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	-0.469000	0.06648	-0.478000	0.06823	-0.472000	0.04984	TTA		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	45	0	0	0	1	0	29	45				
SPATA7	55812	broad.mit.edu	37	14	88892857	88892857	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88892857G>A	ENST00000393545.4	+	6	943	c.654G>A	c.(652-654)tcG>tcA	p.S218S	SPATA7_ENST00000356583.5_Silent_p.S186S|SPATA7_ENST00000045347.7_Silent_p.S218S|SPATA7_ENST00000556553.1_Silent_p.S186S	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	218					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TAGTCATTTCGAAAGCACCCA	0.468																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(556-558)tcG>tcA		spermatogenesis associated 7							64.0	65.0	65.0					14																	88892857		2203	4300	6503	SO:0001819	synonymous_variant	55812				response to stimulus|visual perception			g.chr14:88892857G>A	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.654G>A	14.37:g.88892857G>A						SPATA7_ENST00000045347.7_Silent_p.S218S|SPATA7_ENST00000393545.4_Silent_p.S218S|SPATA7_ENST00000356583.5_Silent_p.S186S	p.S186S			Q9P0W8	SPAT7_HUMAN			6	1117	+			218					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Silent	SNP	ENST00000393545.4	37	c.558G>A	CCDS9883.1																																																																																				0.468	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			27	51	0	0	0	1	0	27	51				
BTNL8	79908	broad.mit.edu	37	5	180374609	180374609	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:180374609C>A	ENST00000340184.4	+	4	977	c.771C>A	c.(769-771)ttC>ttA	p.F257L	BTNL8_ENST00000508408.1_Missense_Mutation_p.F257L|BTNL8_ENST00000533815.2_Missense_Mutation_p.F73L|BTNL8_ENST00000400707.3_Missense_Mutation_p.F132L|BTNL8_ENST00000505126.1_Missense_Mutation_p.F50L|BTNL8_ENST00000231229.4_Missense_Mutation_p.F257L|BTNL8_ENST00000511704.1_Missense_Mutation_p.F141L	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	257					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGATTTTCTTCTCCAAAT	0.488																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(769-771)ttC>ttA		butyrophilin-like 8							237.0	242.0	240.0					5																	180374609		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180374609C>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.771C>A	5.37:g.180374609C>A	ENSP00000342197:p.Phe257Leu					BTNL8_ENST00000400707.3_Missense_Mutation_p.F132L|BTNL8_ENST00000511704.1_Missense_Mutation_p.F141L|BTNL8_ENST00000508408.1_Missense_Mutation_p.F257L|BTNL8_ENST00000340184.4_Missense_Mutation_p.F257L|BTNL8_ENST00000533815.2_Missense_Mutation_p.F73L|BTNL8_ENST00000505126.1_Missense_Mutation_p.F50L	p.F257L	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1005	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	257					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.771C>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	0.279	-0.987546	0.02180	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.58358	4.87;1.45;0.77;4.88;0.77;0.34;0.37	1.52	-3.05	0.05396	.	.	.	.	.	T	0.17066	0.0410	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B	0.22346	0.012;0.035;0.068;0.068;0.028	B;B;B;B;B	0.19148	0.004;0.008;0.023;0.014;0.024	T	0.14727	-1.0462	9	0.10636	T	0.68	.	2.2605	0.04066	0.4121:0.2506:0.0:0.3373	.	132;141;257;257;257	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	L	257;257;132;257;141;50;73	ENSP00000231229:F257L;ENSP00000342197:F257L;ENSP00000383543:F132L;ENSP00000424585:F257L;ENSP00000425207:F141L;ENSP00000427441:F50L;ENSP00000435098:F73L	ENSP00000231229:F257L	F	+	3	2	BTNL8	180307215	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.580000	0.05827	-1.386000	0.02098	-0.694000	0.03704	TTC		0.488	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		11	238	1	0	7.03913e-09	1	8.36985e-09	11	238				
NDUFA11	126328	broad.mit.edu	37	19	5894850	5894850	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5894850A>C	ENST00000308961.4	-	4	376	c.329T>G	c.(328-330)aTt>aGt	p.I110S	NDUFA11_ENST00000418389.2_Intron|FUT5_ENST00000252675.5_Intron|AC024592.12_ENST00000586349.1_Intron|NDUFA11_ENST00000592634.1_3'UTR	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	110					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(1)	2						GGCGGCGCCAATCCCGTAGTT	0.682																																						ENST00000308961.4																			0				central_nervous_system(1)|lung(1)	2						c.(328-330)aTt>aGt		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	NADH(DB00157)						31.0	27.0	29.0					19																	5894850		2200	4300	6500	SO:0001583	missense	126328				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity	g.chr19:5894850A>C	AJ539081	CCDS12155.1, CCDS54203.1	19p13.3	2011-07-04				ENSG00000174886		"""Mitochondrial respiratory chain complex / Complex I"""	20371	protein-coding gene	gene with protein product	"""complex I B14.7 subunit"""	612638				12381726	Standard	NM_001193375		Approved	B14.7	uc002mdp.2	Q86Y39		ENST00000308961.4:c.329T>G	19.37:g.5894850A>C	ENSP00000311740:p.Ile110Ser					NDUFA11_ENST00000418389.2_Intron|AC024592.12_ENST00000586349.1_Intron|FUT5_ENST00000252675.5_Intron|NDUFA11_ENST00000592634.1_3'UTR	p.I110S	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN			4	376	-			110					C9JT23|Q6ZS66	Missense_Mutation	SNP	ENST00000308961.4	37	c.329T>G	CCDS12155.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.638417	0.29157	.	.	ENSG00000174886	ENST00000308961	T	0.26810	1.71	4.09	-0.167	0.13347	.	0.122391	0.53938	U	0.000057	T	0.14485	0.0350	L	0.40543	1.245	0.09310	N	1	B	0.34181	0.44	B	0.28916	0.096	T	0.12553	-1.0543	10	0.56958	D	0.05	.	3.3691	0.07213	0.4125:0.2278:0.3597:0.0	.	110	Q86Y39	NDUAB_HUMAN	S	110	ENSP00000311740:I110S	ENSP00000311740:I110S	I	-	2	0	NDUFA11	5845850	0.001000	0.12720	0.034000	0.17996	0.004000	0.04260	0.888000	0.28268	0.378000	0.24764	0.260000	0.18958	ATT		0.682	NDUFA11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452218.1	NM_175614		4	10	0	0	0	1	0	4	10				
GPR110	266977	broad.mit.edu	37	6	46995498	46995498	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46995498C>T	ENST00000371253.2	-	3	285		c.e3-1		GPR110_ENST00000449332.2_Intron|GPR110_ENST00000371243.2_Splice_Site	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATCATTTTTCTGTTAAAAAG	0.343																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.e3-1		G protein-coupled receptor 110							101.0	97.0	98.0					6																	46995498		2202	4298	6500	SO:0001630	splice_region_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46995498C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.70-1G>A	6.37:g.46995498C>T						GPR110_ENST00000449332.2_Intron|GPR110_ENST00000371243.2_Splice_Site		NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			3	285	-								Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Splice_Site	SNP	ENST00000371253.2	37		CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740788	0.49151	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6374	0.68699	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPR110	47103457	1.000000	0.71417	0.999000	0.59377	0.629000	0.37895	3.347000	0.52200	2.828000	0.97474	0.655000	0.94253	.		0.343	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	Intron	8	36	0	0	0	1	0	8	36				
VWF	7450	broad.mit.edu	37	12	6125981	6125981	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6125981T>G	ENST00000261405.5	-	29	5363	c.5109A>C	c.(5107-5109)ccA>ccC	p.P1703P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1703	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AATAAGAAGCTGGGAAACTGG	0.522																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5107-5109)ccA>ccC		von Willebrand factor	Antihemophilic Factor(DB00025)						72.0	83.0	79.0					12																	6125981		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125981T>G		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5109A>C	12.37:g.6125981T>G							p.P1703P	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			29	5363	-			1703			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5109A>C	CCDS8539.1																																																																																				0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		30	102	0	0	0	1	0	30	102				
SYNE2	23224	broad.mit.edu	37	14	64421617	64421617	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64421617A>C	ENST00000344113.4	+	8	983	c.771A>C	c.(769-771)agA>agC	p.R257S	SYNE2_ENST00000356081.3_Missense_Mutation_p.R257S|SYNE2_ENST00000358025.3_Missense_Mutation_p.R257S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000341472.5_Missense_Mutation_p.R257S|SYNE2_ENST00000554584.1_Missense_Mutation_p.R257S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	257	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATCCCCAGATTGCTGGAAC	0.353																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(769-771)agA>agC		spectrin repeat containing, nuclear envelope 2							76.0	67.0	70.0					14																	64421617		1815	4079	5894	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64421617A>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.771A>C	14.37:g.64421617A>C	ENSP00000341781:p.Arg257Ser					SYNE2_ENST00000554584.1_Missense_Mutation_p.R257S|SYNE2_ENST00000341472.5_Missense_Mutation_p.R257S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Missense_Mutation_p.R257S|SYNE2_ENST00000344113.4_Missense_Mutation_p.R257S	p.R257S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	8	1001	+			257			Actin-binding.|CH 2.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.771A>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	6.744	0.506017	0.12883	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.19	1.44	0.22558	Calponin homology domain (5);	0.906415	0.09314	N	0.819253	D	0.92896	0.7740	M	0.70595	2.14	0.25694	N	0.985652	P;P;B	0.39717	0.684;0.634;0.328	B;B;B	0.38378	0.272;0.178;0.124	D	0.84327	0.0519	10	0.72032	D	0.01	.	8.8996	0.35485	0.5939:0.0:0.4061:0.0	.	257;257;257	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	S	257	ENSP00000350719:R257S;ENSP00000341781:R257S;ENSP00000344528:R257S;ENSP00000348382:R257S;ENSP00000452570:R257S	ENSP00000261678:R257S	R	+	3	2	SYNE2	63491370	0.047000	0.20315	0.037000	0.18230	0.011000	0.07611	0.560000	0.23500	0.055000	0.16094	0.528000	0.53228	AGA		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	34	0	0	0	1	0	8	34				
ZNF280A	129025	broad.mit.edu	37	22	22869289	22869289	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22869289A>G	ENST00000302097.3	-	2	918	c.666T>C	c.(664-666)aaT>aaC	p.N222N	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	222					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(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGTTACTCCATTCTGAACAT	0.438																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(664-666)aaT>aaC		zinc finger protein 280A							145.0	134.0	138.0					22																	22869289		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869289A>G	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.666T>C	22.37:g.22869289A>G							p.N222N	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	918	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	222						Silent	SNP	ENST00000302097.3	37	c.666T>C	CCDS13800.1																																																																																				0.438	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		30	60	0	0	0	1	0	30	60				
MTMR8	55613	broad.mit.edu	37	X	63574754	63574754	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:63574754T>G	ENST00000374852.3	-	4	438	c.371A>C	c.(370-372)gAa>gCa	p.E124A	MTMR8_ENST00000453546.1_Missense_Mutation_p.E124A	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	124						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCATCCACTTTCCCTCATCTC	0.393																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(370-372)gAa>gCa		myotubularin related protein 8							111.0	88.0	96.0					X																	63574754		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63574754T>G	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.371A>C	X.37:g.63574754T>G	ENSP00000363985:p.Glu124Ala					MTMR8_ENST00000453546.1_Missense_Mutation_p.E124A	p.E124A	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			4	438	-			124					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.371A>C	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	T	9.034	0.988085	0.18966	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	D;D	0.92911	-3.13;-3.13	2.96	2.96	0.34315	.	0.227925	0.28635	U	0.014641	D	0.83124	0.5186	L	0.37897	1.145	0.27291	N	0.957848	P;B	0.39809	0.689;0.02	B;B	0.30105	0.111;0.017	T	0.78478	-0.2188	10	0.72032	D	0.01	.	5.5248	0.16953	0.0:0.1376:0.0:0.8624	.	124;124	B4DQL0;Q96EF0	.;MTMR8_HUMAN	A	124;124;123	ENSP00000394003:E124A;ENSP00000363985:E124A	ENSP00000247400:E123A	E	-	2	0	MTMR8	63491479	0.986000	0.35501	0.991000	0.47740	0.734000	0.41952	3.041000	0.49807	1.410000	0.46936	0.412000	0.27726	GAA		0.393	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		13	28	0	0	0	1	0	13	28				
KLRC3	3823	broad.mit.edu	37	12	10569349	10569349	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10569349A>C	ENST00000396439.2	-	5	548	c.504T>G	c.(502-504)atT>atG	p.I168M	KLRC3_ENST00000381903.2_Missense_Mutation_p.I168M|KLRC3_ENST00000381904.2_Missense_Mutation_p.I168M|NKG2-E_ENST00000539033.1_Missense_Mutation_p.I168M	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	168	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGGAAGGTAAAATGCTGGCCA	0.299																																						ENST00000396439.2																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(502-504)atT>atG		killer cell lectin-like receptor subfamily C, member 3							50.0	47.0	48.0					12																	10569349		2202	4279	6481	SO:0001583	missense	3823							g.chr12:10569349A>C	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.504T>G	12.37:g.10569349A>C	ENSP00000379716:p.Ile168Met					NKG2-E_ENST00000539033.1_Missense_Mutation_p.I168M|KLRC3_ENST00000381903.2_Missense_Mutation_p.I168M|KLRC3_ENST00000381904.2_Missense_Mutation_p.I168M	p.I168M	NM_002261.2	NP_002252.2					5	548	-								Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.504T>G	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680125	0.29783	.	.	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	3.18	-5.21	0.02815	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.651210	0.04247	N	0.338011	T	0.13841	0.0335	L	0.53249	1.67	0.09310	N	1	P;P;P	0.43578	0.646;0.572;0.811	P;P;D	0.66351	0.739;0.798;0.943	T	0.37979	-0.9682	10	0.41790	T	0.15	.	0.2471	0.00200	0.3322:0.257:0.1497:0.2611	.	168;168;168	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	M	168	ENSP00000437563:I168M;ENSP00000379716:I168M;ENSP00000371329:I168M;ENSP00000371328:I168M	ENSP00000371328:I168M	I	-	3	3	KLRC3;RP11-277P12.6	10460616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.632000	0.05489	-1.108000	0.03000	-1.017000	0.02453	ATT		0.299	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		4	25	0	0	0	1	0	4	25				
TMEM108	66000	broad.mit.edu	37	3	133099396	133099396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133099396C>T	ENST00000321871.6	+	4	1051	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	TMEM108_ENST00000515826.1_Missense_Mutation_p.R281C|TMEM108_ENST00000393130.3_Missense_Mutation_p.R281C|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	281						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCAGGCCTTCGCAGAGCAGC	0.647																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(841-843)Cgc>Tgc		transmembrane protein 108							27.0	28.0	28.0					3																	133099396		2203	4298	6501	SO:0001583	missense	66000					integral to membrane		g.chr3:133099396C>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.841C>T	3.37:g.133099396C>T	ENSP00000324651:p.Arg281Cys					TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R281C|TMEM108_ENST00000321871.6_Missense_Mutation_p.R281C	p.R281C			Q6UXF1	TM108_HUMAN			3	964	+			281					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.841C>T	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972881	0.34848	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.50001	0.81;0.81;0.76	4.24	-1.26	0.09376	.	1.512440	0.04113	N	0.314957	T	0.29190	0.0726	N	0.14661	0.345	0.09310	N	0.999999	P;P	0.52692	0.955;0.923	B;B	0.43916	0.436;0.436	T	0.13899	-1.0492	10	0.46703	T	0.11	0.5969	1.0086	0.01492	0.4694:0.2037:0.1895:0.1374	.	281;281	E9PB58;Q6UXF1	.;TM108_HUMAN	C	281	ENSP00000324651:R281C;ENSP00000376838:R281C;ENSP00000423338:R281C	ENSP00000324651:R281C	R	+	1	0	TMEM108	134582086	0.003000	0.15002	0.007000	0.13788	0.915000	0.54546	0.815000	0.27253	-0.079000	0.12707	0.561000	0.74099	CGC		0.647	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		23	29	0	0	0	1	0	23	29				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22472986	22472986	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22472986C>A	ENST00000557788.2	-	0	284							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											AGAACTGGTTCTTGGACTTGT	0.562																																						ENST00000557788.2																			0																																																			0							g.chr15:22472986C>A	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22472986C>A														0	284	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.562	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			42	533	1	0	2.47872e-24	1	3.47838e-24	42	533				
EFCAB5	374786	broad.mit.edu	37	17	28405274	28405274	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28405274G>A	ENST00000394835.3	+	15	2971	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	EFCAB5_ENST00000320856.5_Missense_Mutation_p.E803K|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	927							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTGGTCACGAAGTGAGATT	0.413																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(2779-2781)Gaa>Aaa		EF-hand calcium binding domain 5							71.0	68.0	69.0					17																	28405274		1876	4102	5978	SO:0001583	missense	374786						calcium ion binding	g.chr17:28405274G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2779G>A	17.37:g.28405274G>A	ENSP00000378312:p.Glu927Lys					EFCAB5_ENST00000320856.5_Missense_Mutation_p.E803K|EFCAB5_ENST00000394832.2_Intron	p.E927K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			15	2971	+			927					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2779G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930391	0.73327	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.10960	2.82;2.85;2.84	5.32	5.32	0.75619	EF-hand-like domain (1);	0.121249	0.36740	N	0.002439	T	0.31575	0.0801	M	0.65975	2.015	0.80722	D	1	D;P	0.89917	1.0;0.925	D;B	0.77004	0.989;0.199	T	0.00802	-1.1560	10	0.46703	T	0.11	-17.7639	16.1577	0.81677	0.0:0.0:1.0:0.0	.	803;927	E7EVS9;A4FU69	.;EFCB5_HUMAN	K	927;803;609	ENSP00000378312:E927K;ENSP00000322003:E803K;ENSP00000417009:E609K	ENSP00000322003:E803K	E	+	1	0	EFCAB5	25429400	1.000000	0.71417	0.942000	0.38095	0.561000	0.35649	3.645000	0.54389	2.494000	0.84150	0.655000	0.94253	GAA		0.413	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		18	47	0	0	0	1	0	18	47				
KYNU	8942	broad.mit.edu	37	2	143798010	143798010	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:143798010C>T	ENST00000264170.4	+	13	1313	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	KYNU_ENST00000409512.1_Missense_Mutation_p.A352V	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTTAAGCAAGCGACAATGAAG	0.338																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(1054-1056)gCg>gTg		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						73.0	73.0	73.0					2																	143798010		2203	4299	6502	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143798010C>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1055C>T	2.37:g.143798010C>T	ENSP00000264170:p.Ala352Val					KYNU_ENST00000409512.1_Missense_Mutation_p.A352V	p.A352V	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	13	1313	+			352						Missense_Mutation	SNP	ENST00000264170.4	37	c.1055C>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355065	0.41700	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	D;D	0.86432	-2.12;-2.12	5.81	5.81	0.92471	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.053159	0.85682	D	0.000000	T	0.74329	0.3702	N	0.12637	0.245	0.80722	D	1	P	0.43024	0.798	B	0.28916	0.096	T	0.75221	-0.3394	10	0.23891	T	0.37	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	352	Q16719	KYNU_HUMAN	V	352	ENSP00000264170:A352V;ENSP00000386731:A352V	ENSP00000264170:A352V	A	+	2	0	KYNU	143514480	1.000000	0.71417	0.993000	0.49108	0.181000	0.23173	7.246000	0.78247	2.746000	0.94184	0.655000	0.94253	GCG		0.338	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		12	22	0	0	0	1	0	12	22				
KLHL23	151230	broad.mit.edu	37	2	170591663	170591663	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170591663A>C	ENST00000392647.2	+	2	383	c.139A>C	c.(139-141)Att>Ctt	p.I47L	KLHL23_ENST00000272797.4_Missense_Mutation_p.I47L|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	47	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TTCAGGCATAATTTTCCATTG	0.343																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(139-141)Att>Ctt		kelch-like family member 23							72.0	81.0	78.0					2																	170591663		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170591663A>C	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.139A>C	2.37:g.170591663A>C	ENSP00000376419:p.Ile47Leu					KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.I47L	p.I47L	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			2	383	+			47			BTB.		Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.139A>C	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	A	9.224	1.034045	0.19590	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	T;T	0.66995	-0.24;-0.24	5.81	3.42	0.39159	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.272254	0.40144	N	0.001163	T	0.35624	0.0938	N	0.02960	-0.455	0.30536	N	0.766926	B	0.02656	0.0	B	0.09377	0.004	T	0.21381	-1.0247	9	0.28530	T	0.3	.	4.772	0.13160	0.6922:0.124:0.0653:0.1185	.	47	Q8NBE8	KLH23_HUMAN	L	47	ENSP00000272797:I47L;ENSP00000376419:I47L	ENSP00000272797:I47L	I	+	1	0	KLHL23	170299909	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	3.720000	0.54933	0.447000	0.26695	-0.336000	0.08194	ATT		0.343	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		31	54	0	0	0	1	0	31	54				
PLA2G7	7941	broad.mit.edu	37	6	46679328	46679328	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46679328A>C	ENST00000274793.7	-	7	764	c.568T>G	c.(568-570)Ttc>Gtc	p.F190V	PLA2G7_ENST00000538237.1_Missense_Mutation_p.F145V|PLA2G7_ENST00000541026.1_Missense_Mutation_p.F63V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.F190V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	190					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGGTCCTTGAAATAGTAAGTT	0.413																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(568-570)Ttc>Gtc		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							220.0	203.0	209.0					6																	46679328		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46679328A>C	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.568T>G	6.37:g.46679328A>C	ENSP00000274793:p.Phe190Val					PLA2G7_ENST00000541026.1_Missense_Mutation_p.F63V|PLA2G7_ENST00000538237.1_Missense_Mutation_p.F145V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.F190V	p.F190V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		7	764	-			190					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.568T>G	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407477	0.62399	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.72	4.52	0.55395	.	0.097717	0.64402	D	0.000001	T	0.44993	0.1320	M	0.74389	2.26	0.41349	D	0.987353	D;B;D;D	0.54047	0.959;0.351;0.964;0.964	D;B;P;P	0.64144	0.922;0.368;0.894;0.894	T	0.52403	-0.8580	10	0.17369	T	0.5	.	5.0699	0.14602	0.7547:0.0:0.0841:0.1611	.	63;145;190;190	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	V	190;190;145;63	ENSP00000274793:F190V;ENSP00000445666:F190V;ENSP00000441416:F145V;ENSP00000444164:F63V	ENSP00000274793:F190V	F	-	1	0	PLA2G7	46787287	0.982000	0.34865	0.704000	0.30370	0.770000	0.43624	3.739000	0.55075	0.938000	0.37419	0.533000	0.62120	TTC		0.413	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			44	74	0	0	0	1	0	44	74				
SP1	6667	broad.mit.edu	37	12	53777010	53777010	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53777010A>C	ENST00000327443.4	+	3	1377	c.1279A>C	c.(1279-1281)Act>Cct	p.T427P	SP1_ENST00000426431.2_Missense_Mutation_p.T420P	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	427	Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GACCTTTACAACTCAAGCCAT	0.557																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1258-1260)Act>Cct		Sp1 transcription factor							91.0	99.0	96.0					12																	53777010		2203	4300	6503	SO:0001583	missense	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53777010A>C	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1279A>C	12.37:g.53777010A>C	ENSP00000329357:p.Thr427Pro					SP1_ENST00000327443.4_Missense_Mutation_p.T427P	p.T420P	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1318	+			427			Transactivation domain B (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.1258A>C	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450107	0.43531	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08370	3.14;3.1	4.47	4.47	0.54385	.	0.000000	0.56097	D	0.000035	T	0.12603	0.0306	L	0.40543	1.245	0.51767	D	0.999932	D	0.61080	0.989	P	0.50825	0.651	T	0.02539	-1.1144	10	0.45353	T	0.12	.	13.1662	0.59573	1.0:0.0:0.0:0.0	.	427	P08047	SP1_HUMAN	P	427;420	ENSP00000329357:T427P;ENSP00000404263:T420P	ENSP00000329357:T427P	T	+	1	0	SP1	52063277	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.768000	0.55295	2.010000	0.58986	0.383000	0.25322	ACT		0.557	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			50	87	0	0	0	1	0	50	87				
AK5	26289	broad.mit.edu	37	1	77752766	77752766	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77752766A>T	ENST00000354567.2	+	2	464	c.201A>T	c.(199-201)ttA>ttT	p.L67F	AK5_ENST00000344720.5_Missense_Mutation_p.L41F|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	67					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGAAGACCTTACCTCCACTAA	0.363																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(121-123)ttA>ttT		adenylate kinase 5							88.0	86.0	87.0					1																	77752766		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77752766A>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.201A>T	1.37:g.77752766A>T	ENSP00000346577:p.Leu67Phe					AK5_ENST00000354567.2_Missense_Mutation_p.L67F|AK5_ENST00000317704.4_3'UTR	p.L41F	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			2	1149	+			67					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.123A>T	CCDS675.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658625	0.67586	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;D;D	0.85484	-0.7;-1.58;-1.99	5.59	-0.708	0.11241	.	0.000000	0.64402	D	0.000007	T	0.79633	0.4479	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.942;0.994	T	0.78373	-0.2229	10	0.72032	D	0.01	.	6.7047	0.23244	0.5217:0.1258:0.3525:0.0	.	67;67	Q9Y6K8;Q8N291	KAD5_HUMAN;.	F	67;41;41	ENSP00000346577:L67F;ENSP00000341430:L41F;ENSP00000434409:L41F	ENSP00000341430:L41F	L	+	3	2	AK5	77525354	0.999000	0.42202	0.948000	0.38648	0.867000	0.49689	0.773000	0.26661	-0.069000	0.12931	-0.256000	0.11100	TTA		0.363	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		5	61	0	0	0	1	0	5	61				
ALG10B	144245	broad.mit.edu	37	12	38714484	38714484	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:38714484T>G	ENST00000308742.4	+	3	1207	c.891T>G	c.(889-891)ttT>ttG	p.F297L	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	297					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTTTTCATTTACTCTCTTTT	0.348																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(889-891)ttT>ttG		ALG10B, alpha-1,2-glucosyltransferase							131.0	136.0	134.0					12																	38714484		2203	4299	6502	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714484T>G	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.891T>G	12.37:g.38714484T>G	ENSP00000310120:p.Phe297Leu					ALG10B_ENST00000551464.1_Intron	p.F297L	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	1207	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	297					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.891T>G	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	t	14.31	2.496185	0.44352	.	.	ENSG00000175548	ENST00000308742	T	0.58060	0.36	3.34	-1.71	0.08133	.	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	M	0.79693	2.465	0.80722	D	1	D	0.69078	0.997	D	0.63283	0.913	T	0.61845	-0.6979	10	0.45353	T	0.12	.	8.1232	0.30984	0.0:0.4731:0.0:0.5269	.	297	Q5I7T1	AG10B_HUMAN	L	297	ENSP00000310120:F297L	ENSP00000310120:F297L	F	+	3	2	ALG10B	37000751	0.998000	0.40836	0.440000	0.26846	0.496000	0.33645	0.530000	0.23036	-0.349000	0.08274	-0.256000	0.11100	TTT		0.348	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		30	85	0	0	0	1	0	30	85				
PPP2R2B	5521	broad.mit.edu	37	5	146077608	146077608	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:146077608C>A	ENST00000394413.3	-	3	838	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.E148*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.E96*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.E156*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.E93*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.E79*			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	90					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGATTTTTTCTTCTATTTCT	0.388																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(268-270)Gaa>Taa		protein phosphatase 2, regulatory subunit B, beta							115.0	119.0	118.0					5																	146077608		2203	4300	6503	SO:0001587	stop_gained	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146077608C>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.268G>T	5.37:g.146077608C>A	ENSP00000377935:p.Glu90*					PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.E93*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.E96*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.E148*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.E156*	p.E90*			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	838	-			90					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Nonsense_Mutation	SNP	ENST00000394413.3	37	c.268G>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	37	6.161505	0.97338	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	.	.	.	5.74	5.74	0.90152	.	0.042758	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-32.1245	20.2825	0.98528	0.0:1.0:0.0:0.0	.	.	.	.	X	90;79;156;90;90;90;79;93;96;148	.	ENSP00000336591:E93X	E	-	1	0	AC011357.1	146057801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.747000	0.85070	2.873000	0.98535	0.561000	0.74099	GAA		0.388	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		19	41	1	0	5.35267e-07	1	6.09026e-07	19	41				
RBM44	375316	broad.mit.edu	37	2	238725726	238725726	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238725726A>C	ENST00000409864.1	+	3	421	c.167A>C	c.(166-168)aAt>aCt	p.N56T	RBM44_ENST00000316997.4_Missense_Mutation_p.N56T|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	55						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GATGACTGGAATTCTTCGACA	0.308																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(166-168)aAt>aCt		RNA binding motif protein 44							71.0	70.0	71.0					2																	238725726		1827	4071	5898	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238725726A>C	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.167A>C	2.37:g.238725726A>C	ENSP00000386727:p.Asn56Thr					RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.N56T	p.N56T	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	299	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	55					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.167A>C	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	A	7.176	0.588637	0.13812	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.28895	1.59;1.59	5.62	4.48	0.54585	.	0.322809	0.26563	N	0.023666	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B	0.18166	0.026	B	0.20767	0.031	T	0.17531	-1.0366	10	0.66056	D	0.02	-12.9176	8.1698	0.31247	0.9098:0.0:0.0902:0.0	.	55	Q6ZP01	RBM44_HUMAN	T	56	ENSP00000321179:N56T;ENSP00000386727:N56T	ENSP00000321179:N56T	N	+	2	0	RBM44	238390465	0.001000	0.12720	0.329000	0.25429	0.199000	0.23934	0.880000	0.28159	0.977000	0.38444	0.460000	0.39030	AAT		0.308	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		15	40	0	0	0	1	0	15	40				
ARMCX5	64860	broad.mit.edu	37	X	101858222	101858222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101858222G>T	ENST00000604957.1	+	1	3775	c.1153G>T	c.(1153-1155)Gaa>Taa	p.E385*	ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.E385*|RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.E385*	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	385										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTCTTCCGAAGAACCAAAATC	0.418																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1153-1155)Gaa>Taa		armadillo repeat containing, X-linked 5							63.0	63.0	63.0					X																	101858222		2203	4300	6503	SO:0001587	stop_gained	64860						binding	g.chrX:101858222G>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1153G>T	X.37:g.101858222G>T	ENSP00000474720:p.Glu385*					RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.E385*|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.E385*	p.E385*	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3775	+			385					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Nonsense_Mutation	SNP	ENST00000604957.1	37	c.1153G>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	37	5.982069	0.97168	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	.	.	.	3.9	3.03	0.35002	.	0.183297	0.26812	N	0.022361	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.6863	6.4509	0.21903	0.1335:0.0:0.8665:0.0	.	.	.	.	X	385	.	ENSP00000246174:E385X	E	+	1	0	ARMCX5	101744878	0.488000	0.25996	0.011000	0.14972	0.039000	0.13416	1.532000	0.36029	1.015000	0.39444	0.600000	0.82982	GAA		0.418	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		5	86	1	0	0.000602214	1	0.000636035	5	86				
RYR3	6263	broad.mit.edu	37	15	34115220	34115220	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34115220G>T	ENST00000389232.4	+	81	11089	c.11019G>T	c.(11017-11019)gaG>gaT	p.E3673D	RYR3_ENST00000415757.3_Missense_Mutation_p.E3668D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3673					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTAAAGGAGAAAAAGGATG	0.423																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11017-11019)gaG>gaT		ryanodine receptor 3							112.0	107.0	108.0					15																	34115220		1842	4108	5950	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34115220G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11019G>T	15.37:g.34115220G>T	ENSP00000373884:p.Glu3673Asp					RYR3_ENST00000415757.3_Missense_Mutation_p.E3668D	p.E3673D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	81	11089	+		all_lung(180;7.18e-09)	3673					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11019G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303635	0.23736	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.90504	-2.68	5.35	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.89339	0.6687	N	0.24115	0.695	0.37885	D	0.9305	D;P	0.71674	0.998;0.468	D;B	0.72982	0.979;0.225	D	0.86266	0.1658	10	0.22706	T	0.39	.	9.0324	0.36267	0.2212:0.0:0.7788:0.0	.	3668;3673	Q15413-2;Q15413	.;RYR3_HUMAN	D	3673;3672;3668	ENSP00000373884:E3673D	ENSP00000354735:E3668D	E	+	3	2	RYR3	31902512	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.393000	0.44442	0.839000	0.34971	0.655000	0.94253	GAG		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			15	49	1	0	6.31663e-08	1	7.35827e-08	15	49				
RWDD2B	10069	broad.mit.edu	37	21	30380935	30380935	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30380935G>A	ENST00000493196.1	-	2	175	c.75C>T	c.(73-75)taC>taT	p.Y25Y	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	25										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TTGGACATGTGTAAGTTTCTA	0.403																																						ENST00000493196.1																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						c.(73-75)taC>taT		RWD domain containing 2B							33.0	31.0	32.0					21																	30380935		2203	4300	6503	SO:0001819	synonymous_variant	10069							g.chr21:30380935G>A	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.75C>T	21.37:g.30380935G>A						RWDD2B_ENST00000486719.1_5'UTR	p.Y25Y	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN			2	175	-			25						Silent	SNP	ENST00000493196.1	37	c.75C>T	CCDS13582.1																																																																																				0.403	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			11	16	0	0	0	1	0	11	16				
H6PD	9563	broad.mit.edu	37	1	9324611	9324611	+	Missense_Mutation	SNP	G	G	A	rs538464231		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:9324611G>A	ENST00000377403.2	+	5	2361	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	H6PD_ENST00000602477.1_Missense_Mutation_p.D698N	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	687	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCAGCTTCGACCTGGTGCT	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		18801	0.001		0.0	False		,,,				2504	0.0					ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(2059-2061)Gac>Aac		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						54.0	56.0	55.0					1																	9324611		2203	4299	6502	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324611G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2059G>A	1.37:g.9324611G>A	ENSP00000366620:p.Asp687Asn					H6PD_ENST00000602477.1_Missense_Mutation_p.D698N	p.D687N	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2361	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	687			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2059G>A	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374139	0.82573	.	.	ENSG00000049239	ENST00000377403	T	0.65364	-0.15	5.72	5.72	0.89469	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.045890	0.85682	D	0.000000	D	0.85911	0.5807	H	0.95712	3.71	0.47949	D	0.999555	D	0.89917	1.0	D	0.79108	0.992	D	0.89460	0.3736	10	0.72032	D	0.01	-49.7456	18.8652	0.92289	0.0:0.0:1.0:0.0	.	687	O95479	G6PE_HUMAN	N	687	ENSP00000366620:D687N	ENSP00000366620:D687N	D	+	1	0	H6PD	9247198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.810000	0.75216	2.709000	0.92574	0.561000	0.74099	GAC		0.667	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		46	77	0	0	0	1	0	46	77				
SACM1L	22908	broad.mit.edu	37	3	45763501	45763501	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45763501C>T	ENST00000389061.5	+	9	893	c.689C>T	c.(688-690)tCg>tTg	p.S230L	SACM1L_ENST00000541314.1_Missense_Mutation_p.S169L|SACM1L_ENST00000418611.1_Missense_Mutation_p.S127L	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	230	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GGAATTGATTCGGAAGGCCAT	0.353																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(688-690)tCg>tTg		SAC1 suppressor of actin mutations 1-like (yeast)							97.0	86.0	90.0					3																	45763501		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45763501C>T	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.689C>T	3.37:g.45763501C>T	ENSP00000373713:p.Ser230Leu					SACM1L_ENST00000418611.1_Missense_Mutation_p.S127L|SACM1L_ENST00000541314.1_Missense_Mutation_p.S169L	p.S230L	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	9	893	+			230			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.689C>T	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049492	0.55218	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314	T;T;T	0.58060	0.36;0.36;0.36	5.15	5.15	0.70609	Synaptojanin, N-terminal (2);	0.114974	0.64402	D	0.000008	T	0.43389	0.1245	L	0.35414	1.06	0.80722	D	1	B;B	0.29162	0.219;0.235	B;B	0.26517	0.07;0.07	T	0.26224	-1.0109	10	0.21014	T	0.42	.	18.5874	0.91196	0.0:1.0:0.0:0.0	.	169;230	B4DK71;Q9NTJ5	.;SAC1_HUMAN	L	127;230;169	ENSP00000396387:S127L;ENSP00000373713:S230L;ENSP00000443373:S169L	ENSP00000373713:S230L	S	+	2	0	SACM1L	45738505	1.000000	0.71417	0.989000	0.46669	0.908000	0.53690	7.250000	0.78287	2.571000	0.86741	0.585000	0.79938	TCG		0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		14	18	0	0	0	1	0	14	18				
ZMYM3	9203	broad.mit.edu	37	X	70461091	70461091	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70461091G>T	ENST00000353904.2	-	24	4093	c.3906C>A	c.(3904-3906)ttC>ttA	p.F1302L	ZMYM3_ENST00000373998.1_Missense_Mutation_p.F1290L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1304L|ZMYM3_ENST00000373984.3_Missense_Mutation_p.F1212L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1302L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1302					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGAGAGATAGAATTCATAGA	0.517																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3868-3870)ttC>ttA		zinc finger, MYM-type 3							112.0	91.0	98.0					X																	70461091		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461091G>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3906C>A	X.37:g.70461091G>T	ENSP00000343909:p.Phe1302Leu					ZMYM3_ENST00000373984.3_Missense_Mutation_p.F1212L|ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1302L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1302L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1304L|ZMYM3_ENST00000489332.1_5'UTR	p.F1290L	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			24	4567	-	Renal(35;0.156)		1302					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3870C>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	14.42	2.530443	0.45073	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.47528	1.43;0.84;1.43;1.53;1.43	4.48	2.71	0.32032	.	0.000000	0.64402	D	0.000002	T	0.48409	0.1498	L	0.57536	1.79	0.40231	D	0.977841	P;P	0.39003	0.602;0.654	B;P	0.46825	0.393;0.528	T	0.39313	-0.9620	10	0.41790	T	0.15	-11.9134	7.0941	0.25299	0.4028:0.0:0.5972:0.0	.	1290;1302	Q14202-2;Q14202	.;ZMYM3_HUMAN	L	1302;1290;1302;1212;1304	ENSP00000322845:F1302L;ENSP00000363110:F1290L;ENSP00000343909:F1302L;ENSP00000363096:F1212L;ENSP00000363100:F1304L	ENSP00000322845:F1302L	F	-	3	2	ZMYM3	70377816	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.613000	0.24299	0.360000	0.24265	0.583000	0.79449	TTC		0.517	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		21	34	1	0	1.55795e-14	1	2.03067e-14	21	34				
RFPL4B	442247	broad.mit.edu	37	6	112671559	112671559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112671559G>T	ENST00000441065.2	+	3	961	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	217	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TGACTTAGAAGAAATCCAGTT	0.448																																						ENST00000441065.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(649-651)Gaa>Taa		ret finger protein-like 4B							67.0	63.0	65.0					6																	112671559		2203	4300	6503	SO:0001587	stop_gained	442247						zinc ion binding	g.chr6:112671559G>T	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.649G>T	6.37:g.112671559G>T	ENSP00000423391:p.Glu217*						p.E217*	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	961	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	217			B30.2/SPRY.		A2RU91	Nonsense_Mutation	SNP	ENST00000441065.2	37	c.649G>T	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665831	0.88251	.	.	ENSG00000251258	ENST00000441065	.	.	.	4.17	1.45	0.22620	.	0.000000	0.35739	N	0.003007	.	.	.	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	4.1311	0.10149	0.2895:0.1721:0.5383:0.0	.	.	.	.	X	217	.	ENSP00000423391:E217X	E	+	1	0	RFPL4B	112778252	0.631000	0.27164	0.001000	0.08648	0.061000	0.15899	0.151000	0.16283	0.319000	0.23209	-0.126000	0.14955	GAA		0.448	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		25	33	1	0	6.32553e-13	1	8.04352e-13	25	33				
GTF3C1	2975	broad.mit.edu	37	16	27481617	27481617	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:27481617G>T	ENST00000356183.4	-	31	4641	c.4626C>A	c.(4624-4626)ttC>ttA	p.F1542L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.F1542L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1542					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTTGAAAGAGAAACGATCAG	0.522																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4624-4626)ttC>ttA		general transcription factor IIIC, polypeptide 1, alpha 220kDa							134.0	140.0	138.0					16																	27481617		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27481617G>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4626C>A	16.37:g.27481617G>T	ENSP00000348510:p.Phe1542Leu					GTF3C1_ENST00000561623.1_Missense_Mutation_p.F1542L	p.F1542L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			31	4641	-			1542					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4626C>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	8.278	0.814984	0.16607	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22743	1.94	5.57	-2.73	0.05950	.	0.276491	0.36591	N	0.002506	T	0.40979	0.1139	M	0.73962	2.25	0.32111	N	0.589286	B;D	0.71674	0.282;0.998	B;D	0.80764	0.076;0.994	T	0.51537	-0.8693	10	0.54805	T	0.06	-18.9382	14.0868	0.64962	0.4721:0.0:0.5279:0.0	.	1542;1542	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1542;1538	ENSP00000348510:F1542L	ENSP00000348510:F1542L	F	-	3	2	GTF3C1	27389118	0.830000	0.29337	0.569000	0.28460	0.941000	0.58515	-0.121000	0.10643	-0.405000	0.07599	-0.469000	0.05056	TTC		0.522	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		61	138	1	0	5.82218e-30	1	8.31339e-30	61	138				
ASB6	140459	broad.mit.edu	37	9	132400459	132400459	+	Missense_Mutation	SNP	G	G	T	rs113686617	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:132400459G>T	ENST00000277458.4	-	6	1041	c.876C>A	c.(874-876)caC>caA	p.H292Q	ASB6_ENST00000277459.4_3'UTR|RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.H213Q	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	292					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				AGGACGCACCGTGCAGGGAGC	0.597																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(874-876)caC>caA		ankyrin repeat and SOCS box containing 6							57.0	53.0	55.0					9																	132400459		2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132400459G>T		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.876C>A	9.37:g.132400459G>T	ENSP00000277458:p.His292Gln					ASB6_ENST00000277459.4_3'UTR|ASB6_ENST00000450050.2_Missense_Mutation_p.H213Q	p.H292Q	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			6	1041	-		Ovarian(14;0.00556)	292					Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.876C>A	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.098916	0.37048	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.61510	0.1;0.1	4.65	-8.79	0.00820	.	0.000000	0.85682	D	0.000000	T	0.56688	0.2002	L	0.32530	0.975	0.51767	D	0.999932	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67725	0.953;0.953;0.953	T	0.73375	-0.4002	10	0.54805	T	0.06	-19.2768	15.6172	0.76775	0.4982:0.0:0.5018:0.0	.	213;292;292	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	Q	292;213	ENSP00000277458:H292Q;ENSP00000416172:H213Q	ENSP00000277458:H292Q	H	-	3	2	ASB6	131440280	0.000000	0.05858	0.029000	0.17559	0.195000	0.23768	-1.840000	0.01684	-1.587000	0.01630	-1.562000	0.00884	CAC		0.597	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		30	40	1	0	3.73988e-18	1	5.05028e-18	30	40				
EGF	1950	broad.mit.edu	37	4	110864438	110864438	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:110864438C>A	ENST00000265171.5	+	3	801	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	EGF_ENST00000509793.1_Missense_Mutation_p.S119Y|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.S119Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	119					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AAAAATGTTTCTGGAATGGCA	0.264																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(355-357)tCt>tAt		epidermal growth factor	Sulindac(DB00605)						50.0	57.0	55.0					4																	110864438		2199	4293	6492	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864438C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.356C>A	4.37:g.110864438C>A	ENSP00000265171:p.Ser119Tyr					EGF_ENST00000509793.1_Missense_Mutation_p.S119Y|EGF_ENST00000503392.1_Missense_Mutation_p.S119Y|EGF_ENST00000502723.1_3'UTR	p.S119Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	801	+		Hepatocellular(203;0.0893)	119					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.356C>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872689	0.72180	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.34275	1.37;1.37;1.37	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);	0.180345	0.51477	D	0.000094	T	0.60366	0.2263	M	0.79123	2.44	0.46241	D	0.99894	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.987	T	0.63690	-0.6580	10	0.87932	D	0	.	13.0741	0.59077	0.0:0.9267:0.0:0.0733	.	119;119;119	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	Y	119	ENSP00000424316:S119Y;ENSP00000265171:S119Y;ENSP00000421384:S119Y	ENSP00000265171:S119Y	S	+	2	0	EGF	111083887	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.511000	0.53400	2.697000	0.92050	0.650000	0.86243	TCT		0.264	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			17	39	1	0	3.99206e-14	1	5.17458e-14	17	39				
C7orf50	84310	broad.mit.edu	37	7	1037352	1037352	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:1037352G>A	ENST00000397098.3	-	5	1420	c.494C>T	c.(493-495)gCc>gTc	p.A165V	C7orf50_ENST00000397100.2_Missense_Mutation_p.A165V|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.A165V			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	165							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCGCATCAGGGCTTCCGCCTT	0.677																																						ENST00000397098.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(493-495)gCc>gTc		chromosome 7 open reading frame 50							35.0	40.0	38.0					7																	1037352		2203	4297	6500	SO:0001583	missense	84310						protein binding	g.chr7:1037352G>A	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.494C>T	7.37:g.1037352G>A	ENSP00000380286:p.Ala165Val					C7orf50_ENST00000397100.2_Missense_Mutation_p.A165V|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.A165V	p.A165V			Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	5	1420	-		Ovarian(82;0.0779)	165						Missense_Mutation	SNP	ENST00000397098.3	37	c.494C>T	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843162	0.32606	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000444428;ENST00000491163	.	.	.	5.61	4.73	0.59995	.	0.305925	0.29602	N	0.011683	T	0.38374	0.1038	L	0.43152	1.355	0.09310	N	0.999995	P	0.35944	0.529	B	0.39876	0.312	T	0.21484	-1.0244	9	0.29301	T	0.29	-9.2254	12.6862	0.56949	0.081:0.0:0.919:0.0	.	165	Q9BRJ6	CG050_HUMAN	V	165;165;165;133;165	.	ENSP00000350011:A165V	A	-	2	0	C7orf50	1003878	0.959000	0.32827	0.313000	0.25210	0.081000	0.17604	5.283000	0.65621	1.374000	0.46228	0.655000	0.94253	GCC		0.677	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		25	33	0	0	0	1	0	25	33				
VN1R4	317703	broad.mit.edu	37	19	53770552	53770552	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770552C>A	ENST00000311170.4	-	1	420	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	123					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGCTTGGGGGCTTTCTCTTTA	0.507										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(367-369)Gcc>Tcc		vomeronasal 1 receptor 4							53.0	40.0	44.0					19																	53770552		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770552C>A	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.367G>T	19.37:g.53770552C>A	ENSP00000310856:p.Ala123Ser	HNSCC(26;0.072)					p.A123S	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	420	-			123					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.367G>T	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296712	0.23650	.	.	ENSG00000228567	ENST00000311170	T	0.32515	1.45	2.28	-0.129	0.13502	GPCR, rhodopsin-like superfamily (1);	0.470399	0.15836	N	0.242255	T	0.19087	0.0458	N	0.21142	0.635	0.09310	N	1	P	0.43431	0.807	B	0.43360	0.417	T	0.10268	-1.0637	10	0.56958	D	0.05	.	4.4329	0.11536	0.2198:0.6408:0.0:0.1394	.	123	Q7Z5H5	VN1R4_HUMAN	S	123	ENSP00000310856:A123S	ENSP00000310856:A123S	A	-	1	0	VN1R4	58462364	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.053000	0.14184	0.062000	0.16340	0.545000	0.68477	GCC		0.507	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		11	51	1	0	0.00136819	1	0.00143372	11	51				
MAP3K9	4293	broad.mit.edu	37	14	71216702	71216702	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71216702G>A	ENST00000554752.2	-	4	1097	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	MAP3K9_ENST00000553414.1_Silent_p.L60L|MAP3K9_ENST00000381250.4_Silent_p.L366L|MAP3K9_ENST00000554146.1_Silent_p.L103L|MAP3K9_ENST00000555993.2_Silent_p.L366L	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TAGGAAGGGCGAGTTTGTTCA	0.507																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1096-1098)ctC>ctT		mitogen-activated protein kinase kinase kinase 9							172.0	149.0	157.0					14																	71216702		2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71216702G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1098C>T	14.37:g.71216702G>A						MAP3K9_ENST00000381250.4_Silent_p.L366L|MAP3K9_ENST00000554146.1_Silent_p.L103L|MAP3K9_ENST00000553414.1_Silent_p.L60L|MAP3K9_ENST00000555993.2_Silent_p.L366L	p.L366L			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	4	1097	-			366			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.1098C>T																																																																																					0.507	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	93	0	0	0	1	0	4	93				
KCNIP4	80333	broad.mit.edu	37	4	20734383	20734383	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20734383A>C	ENST00000382152.2	-	7	730	c.563T>G	c.(562-564)aTa>aGa	p.I188R	KCNIP4_ENST00000382150.4_Missense_Mutation_p.I167R|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382148.3_Missense_Mutation_p.I163R|KCNIP4_ENST00000509207.1_Missense_Mutation_p.I126R|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.I126R|KCNIP4_ENST00000447367.2_Missense_Mutation_p.I154R	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	188	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CATATCGTATATTGCTTTCAT	0.373																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(487-489)aTa>aGa		Kv channel interacting protein 4							117.0	108.0	111.0					4																	20734383		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20734383A>C	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.563T>G	4.37:g.20734383A>C	ENSP00000371587:p.Ile188Arg					KCNIP4_ENST00000382152.2_Missense_Mutation_p.I188R|KCNIP4_ENST00000447367.2_Missense_Mutation_p.I154R|KCNIP4_ENST00000509207.1_Missense_Mutation_p.I126R|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.I167R|KCNIP4_ENST00000359001.5_Missense_Mutation_p.I126R|KCNIP4_ENST00000382149.4_5'UTR	p.I163R	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN			6	824	-		Breast(46;0.134)	188			EF-hand 3.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.488T>G	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542057	0.85917	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.32	5.32	0.75619	EF-hand-like domain (1);	0.134162	0.64402	D	0.000003	D	0.84884	0.5571	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.88309	0.2955	10	0.87932	D	0	.	15.6302	0.76904	1.0:0.0:0.0:0.0	.	163;167;171;188	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	R	163;154;167;126;188;126;126	ENSP00000371583:I163R;ENSP00000399080:I154R;ENSP00000371585:I167R;ENSP00000371587:I188R;ENSP00000423257:I126R;ENSP00000351892:I126R	ENSP00000351892:I126R	I	-	2	0	KCNIP4	20343481	1.000000	0.71417	0.921000	0.36526	0.976000	0.68499	9.283000	0.95860	2.148000	0.66965	0.456000	0.33151	ATA		0.373	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		9	19	0	0	0	1	0	9	19				
CDH10	1008	broad.mit.edu	37	5	24509887	24509887	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:24509887G>A	ENST00000264463.4	-	7	1551	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	348	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTCTGCTTCGACTTTCAGAG	0.378										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1042-1044)gtC>gtT		cadherin 10, type 2 (T2-cadherin)							69.0	70.0	69.0					5																	24509887		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509887G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1044C>T	5.37:g.24509887G>A		HNSCC(23;0.051)					p.V348V	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1551	-			348			Cadherin 3.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1044C>T	CCDS3892.1																																																																																				0.378	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		12	18	0	0	0	1	0	12	18				
MAPK10	5602	broad.mit.edu	37	4	86985420	86985420	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:86985420G>A	ENST00000359221.3	-	11	1635	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	MAPK10_ENST00000395161.2_Splice_Site_p.A370V|MAPK10_ENST00000361569.2_Splice_Site_p.A370V|MAPK10_ENST00000449047.2_Splice_Site_p.A225V|MAPK10_ENST00000395169.3_Splice_Site_p.A332V|MAPK10_ENST00000395160.3_Splice_Site_p.A225V|MAPK10_ENST00000395157.3_Splice_Site_p.A225V|MAPK10_ENST00000395166.1_Splice_Site_p.A332V			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	370					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ATTTCTTACCGCCTCCACTTC	0.433																																						ENST00000395169.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.e11+1		mitogen-activated protein kinase 10							150.0	138.0	142.0					4																	86985420		2203	4300	6503	SO:0001630	splice_region_variant	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:86985420G>A	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1110+1C>T	4.37:g.86985420G>A						MAPK10_ENST00000449047.2_Splice_Site_p.A225_splice|MAPK10_ENST00000395160.3_Splice_Site_p.A225_splice|MAPK10_ENST00000361569.2_Splice_Site_p.A370_splice|MAPK10_ENST00000395166.1_Splice_Site_p.A332_splice|MAPK10_ENST00000359221.3_Splice_Site_p.A370_splice|MAPK10_ENST00000395157.3_Splice_Site_p.A225_splice|MAPK10_ENST00000395161.2_Splice_Site_p.A370_splice	p.A332_splice	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	11	1715	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	370			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Splice_Site	SNP	ENST00000359221.3	37	c.996_splice	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361445	0.82353	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.95	5.95	0.96441	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	M	0.78223	2.4	0.80722	D	1	P;P;P;P;P	0.45283	0.773;0.773;0.855;0.855;0.705	B;B;B;B;B	0.33042	0.026;0.075;0.157;0.157;0.055	T	0.82283	-0.0534	10	0.31617	T	0.26	-13.73	20.3931	0.98965	0.0:0.0:1.0:0.0	.	256;225;332;370;370	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.;.;.;.;MK10_HUMAN	V	332;370;225;370;332;225;225;370	ENSP00000378598:A332V;ENSP00000352157:A370V;ENSP00000378586:A225V;ENSP00000355297:A370V;ENSP00000378595:A332V;ENSP00000378589:A225V;ENSP00000414469:A225V;ENSP00000378590:A370V	ENSP00000352157:A370V	A	-	2	0	MAPK10	87204444	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	GCG		0.433	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2		Missense_Mutation	24	53	0	0	0	1	0	24	53				
VN1R2	317701	broad.mit.edu	37	19	53762110	53762110	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53762110G>A	ENST00000341702.3	+	1	566	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	161					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.G161E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AATTATTTTGGATGCAAATTT	0.458																																						ENST00000341702.3																			1	Substitution - Missense(1)	p.G161E(1)	kidney(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(481-483)gGa>gAa		vomeronasal 1 receptor 2							52.0	54.0	54.0					19																	53762110		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762110G>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.482G>A	19.37:g.53762110G>A	ENSP00000351244:p.Gly161Glu						p.G161E	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	566	+			161					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.482G>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033778	0.19590	.	.	ENSG00000196131	ENST00000341702	T	0.09163	3.01	2.93	0.728	0.18260	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20536	0.0494	M	0.64630	1.985	0.09310	N	1	D	0.54601	0.967	P	0.58391	0.838	T	0.08166	-1.0735	9	0.51188	T	0.08	.	6.0541	0.19802	0.1178:0.1946:0.6876:0.0	.	161	Q8NFZ6	VN1R2_HUMAN	E	161	ENSP00000351244:G161E	ENSP00000351244:G161E	G	+	2	0	VN1R2	58453922	0.008000	0.16893	0.009000	0.14445	0.147000	0.21601	-0.364000	0.07583	0.299000	0.22661	0.590000	0.80494	GGA		0.458	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		18	33	0	0	0	1	0	18	33				
HCRTR2	3062	broad.mit.edu	37	6	55039482	55039482	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:55039482G>A	ENST00000370862.3	+	1	433	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	33					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAACCCCACCGACTATGACGA	0.537																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(97-99)Gac>Aac		hypocretin (orexin) receptor 2							144.0	129.0	134.0					6																	55039482		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039482G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.97G>A	6.37:g.55039482G>A	ENSP00000359899:p.Asp33Asn						p.D33N	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	433	+	Lung NSC(77;0.107)|Renal(3;0.122)		33					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.97G>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505518	0.44558	.	.	ENSG00000137252	ENST00000370862	T	0.38240	1.15	4.99	4.09	0.47781	.	0.283281	0.34314	N	0.004074	T	0.17238	0.0414	L	0.48642	1.525	0.36284	D	0.855999	B	0.13594	0.008	B	0.08055	0.003	T	0.04481	-1.0948	10	0.13470	T	0.59	.	16.8672	0.86032	0.0:0.1389:0.8611:0.0	.	33	O43614	OX2R_HUMAN	N	33	ENSP00000359899:D33N	ENSP00000359899:D33N	D	+	1	0	HCRTR2	55147441	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	4.713000	0.61895	2.599000	0.87857	0.563000	0.77884	GAC		0.537	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			48	97	0	0	0	1	0	48	97				
IFT81	28981	broad.mit.edu	37	12	110618313	110618313	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110618313C>T	ENST00000242591.5	+	12	1781	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	IFT81_ENST00000552912.1_Silent_p.F425F	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	425					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AAGCTGAATTCGGTCTTTTGC	0.323																																						ENST00000242591.5																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(1273-1275)ttC>ttT		intraflagellar transport 81 homolog (Chlamydomonas)							86.0	78.0	81.0					12																	110618313		1830	4083	5913	SO:0001819	synonymous_variant	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110618313C>T	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1275C>T	12.37:g.110618313C>T						IFT81_ENST00000552912.1_Silent_p.F425F	p.F425F	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN			12	1781	+			425					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Silent	SNP	ENST00000242591.5	37	c.1275C>T	CCDS41831.1																																																																																				0.323	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		5	16	0	0	0	1	0	5	16				
KCTD4	386618	broad.mit.edu	37	13	45768375	45768375	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45768375G>T	ENST00000379108.1	-	1	477	c.328C>A	c.(328-330)Ctt>Att	p.L110I	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000405872.1_Missense_Mutation_p.L110I			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	110	BTB.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TCTTGTGCAAGAAGTTGATTT	0.443																																						ENST00000405872.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						c.(328-330)Ctt>Att		potassium channel tetramerization domain containing 4							105.0	102.0	103.0					13																	45768375		2203	4300	6503	SO:0001583	missense	386618					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr13:45768375G>T	BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.328C>A	13.37:g.45768375G>T	ENSP00000368402:p.Leu110Ile					KCTD4_ENST00000379108.1_Missense_Mutation_p.L110I|GTF2F2_ENST00000340473.6_Intron	p.L110I	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)	2	731	-		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	110			BTB.		Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	c.328C>A	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467857	0.63625	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.57752	0.38;0.38	6.05	6.05	0.98169	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.64326	-0.6434	10	0.62326	D	0.03	.	8.9097	0.35546	0.1558:0.0:0.8441:0.0	.	110	Q8WVF5	KCTD4_HUMAN	I	110	ENSP00000368402:L110I;ENSP00000385144:L110I	ENSP00000368402:L110I	L	-	1	0	KCTD4	44666375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.987000	0.56944	2.880000	0.98712	0.655000	0.94253	CTT		0.443	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			30	54	1	0	1.2476e-16	1	1.66396e-16	30	54				
KCNA6	3742	broad.mit.edu	37	12	4920773	4920773	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4920773G>T	ENST00000280684.3	+	1	2432	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.E522D			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	522					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCTATGCAGAGAAAAGAATGC	0.567										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(1564-1566)gaG>gaT		potassium voltage-gated channel, shaker-related subfamily, member 6							52.0	57.0	56.0					12																	4920773		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920773G>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1566G>T	12.37:g.4920773G>T	ENSP00000280684:p.Glu522Asp	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.E522D	p.E522D	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	2432	+			522						Missense_Mutation	SNP	ENST00000280684.3	37	c.1566G>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.273658	0.01421	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97575	-4.44;-4.44	4.97	2.99	0.34606	.	0.330090	0.27932	N	0.017275	D	0.92586	0.7645	L	0.44542	1.39	0.31771	N	0.63207	B	0.06786	0.001	B	0.04013	0.001	D	0.85628	0.1268	10	0.08599	T	0.76	.	8.1814	0.31313	0.2657:0.0:0.7343:0.0	.	522	P17658	KCNA6_HUMAN	D	522	ENSP00000408321:E522D;ENSP00000280684:E522D	ENSP00000280684:E522D	E	+	3	2	KCNA6	4791034	1.000000	0.71417	0.999000	0.59377	0.575000	0.36095	3.207000	0.51106	1.323000	0.45263	0.655000	0.94253	GAG		0.567	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		33	73	1	0	1.04594e-18	1	1.41924e-18	33	73				
CNTNAP2	26047	broad.mit.edu	37	7	146818172	146818172	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:146818172C>A	ENST00000361727.3	+	6	1372	c.856C>A	c.(856-858)Cgg>Agg	p.R286R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	286	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGCCAGGGGCGGAGCATTAA	0.522										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(856-858)Cgg>Agg		contactin associated protein-like 2							161.0	128.0	139.0					7																	146818172		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146818172C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.856C>A	7.37:g.146818172C>A		HNSCC(39;0.1)					p.R286R	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1372	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	286			Laminin G-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.856C>A	CCDS5889.1																																																																																				0.522	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			15	56	1	0	7.93312e-07	1	8.98086e-07	15	56				
USP47	55031	broad.mit.edu	37	11	11970032	11970032	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:11970032T>G	ENST00000399455.2	+	23	3455	c.3335T>G	c.(3334-3336)aTt>aGt	p.I1112S	USP47_ENST00000527733.1_Missense_Mutation_p.I1092S|USP47_ENST00000339865.5_Missense_Mutation_p.I1024S|USP47_ENST00000539466.1_De_novo_Start_InFrame	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1112					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TAGATTACAATTAGACTGGGG	0.308																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(3070-3072)aTt>aGt		ubiquitin specific peptidase 47							49.0	49.0	49.0					11																	11970032		1799	4051	5850	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11970032T>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3335T>G	11.37:g.11970032T>G	ENSP00000382382:p.Ile1112Ser					USP47_ENST00000399455.2_Missense_Mutation_p.I1112S|USP47_ENST00000527733.1_Missense_Mutation_p.I1092S|USP47_ENST00000539466.1_De_novo_Start_InFrame	p.I1024S	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	21	3834	+			1112					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3071T>G		.	.	.	.	.	.	.	.	.	.	T	25.2	4.615027	0.87359	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94828	-3.53;-3.53;-3.53	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	L	0.61218	1.895	0.80722	D	1	P;D	0.53462	0.932;0.96	P;D	0.64237	0.84;0.923	D	0.96771	0.9568	10	0.87932	D	0	.	15.1538	0.72723	0.0:0.0:0.0:1.0	.	1092;1024	E9PM46;Q96K76-2	.;.	S	1024;1092;1112	ENSP00000339957:I1024S;ENSP00000433146:I1092S;ENSP00000382382:I1112S	ENSP00000339957:I1024S	I	+	2	0	USP47	11926608	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.295000	0.72744	2.055000	0.61198	0.482000	0.46254	ATT		0.308	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		9	28	0	0	0	1	0	9	28				
CLLU1OS	574016	broad.mit.edu	37	12	92821901	92821901	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:92821901C>T	ENST00000378487.2	-	1	23	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.E8K|CLLU1_ENST00000472839.2_Intron	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	8										large_intestine(1)|lung(7)	8						tccttaagttcgttgtgcccc	0.423																																						ENST00000378487.2																			0				large_intestine(1)|lung(7)	8						c.(22-24)Gaa>Aaa		chronic lymphocytic leukemia up-regulated 1 opposite strand							240.0	200.0	214.0					12																	92821901		2203	4300	6503	SO:0001583	missense	574016							g.chr12:92821901C>T	AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"""chronic lymphocytic leukemia up-regulated 1 overlapping strand"""				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.22G>A	12.37:g.92821901C>T	ENSP00000367748:p.Glu8Lys					CLLU1_ENST00000472839.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.E8K	p.E8K	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN			1	23	-			8						Missense_Mutation	SNP	ENST00000378487.2	37	c.22G>A	CCDS31871.1	.	.	.	.	.	.	.	.	.	.	C	4.569	0.105784	0.08780	.	.	ENSG00000205057	ENST00000378487;ENST00000538965	.	.	.	2.81	0.932	0.19466	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	P	0.35700	0.516	B	0.25291	0.059	T	0.12785	-1.0534	8	0.87932	D	0	.	7.4211	0.27073	0.181:0.6388:0.1802:0.0	.	8	Q5K130	CLU1O_HUMAN	K	8	.	ENSP00000367748:E8K	E	-	1	0	CLLU1OS	91346032	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.370000	0.20433	-0.036000	0.13669	-1.507000	0.00952	GAA		0.423	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			16	24	0	0	0	1	0	16	24				
TMEM68	137695	broad.mit.edu	37	8	56668917	56668917	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56668917T>G	ENST00000434581.2	-	4	578	c.379A>C	c.(379-381)Att>Ctt	p.I127L	TMEM68_ENST00000519784.1_Missense_Mutation_p.I13L|TMEM68_ENST00000334667.2_Missense_Mutation_p.I127L|TMEM68_ENST00000523073.1_Missense_Mutation_p.I13L			Q96MH6	TMM68_HUMAN	transmembrane protein 68	127						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TGATAAAAAATTATAAGTGCT	0.303																																						ENST00000434581.2																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(379-381)Att>Ctt		transmembrane protein 68							62.0	68.0	66.0					8																	56668917		2202	4296	6498	SO:0001583	missense	137695					integral to membrane	acyltransferase activity	g.chr8:56668917T>G	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.379A>C	8.37:g.56668917T>G	ENSP00000395204:p.Ile127Leu					TMEM68_ENST00000523073.1_Missense_Mutation_p.I13L|TMEM68_ENST00000334667.2_Missense_Mutation_p.I127L|TMEM68_ENST00000519784.1_Missense_Mutation_p.I13L	p.I127L			Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		4	578	-			127					Q658X6|Q8WUD2	Missense_Mutation	SNP	ENST00000434581.2	37	c.379A>C		.	.	.	.	.	.	.	.	.	.	T	16.99	3.275048	0.59649	.	.	ENSG00000167904	ENST00000434581;ENST00000334667;ENST00000519784;ENST00000523073;ENST00000519780;ENST00000522090;ENST00000523423	D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	5.57	4.41	0.53225	Phospholipid/glycerol acyltransferase (2);	0.058498	0.64402	D	0.000003	D	0.95079	0.8406	M	0.67700	2.07	0.80722	D	1	B;B	0.31351	0.32;0.044	B;B	0.27796	0.083;0.05	D	0.91769	0.5426	10	0.56958	D	0.05	-18.6368	3.0433	0.06145	0.188:0.1792:0.0:0.6328	.	127;127	Q96MH6-2;Q96MH6	.;TMM68_HUMAN	L	127;127;13;13;13;127;127	ENSP00000395204:I127L;ENSP00000335416:I127L;ENSP00000428688:I13L;ENSP00000429026:I13L;ENSP00000429667:I13L;ENSP00000430542:I127L	ENSP00000335416:I127L	I	-	1	0	TMEM68	56831471	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	4.936000	0.63506	0.934000	0.37316	0.482000	0.46254	ATT		0.303	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		12	29	0	0	0	1	0	12	29				
MPHOSPH10	10199	broad.mit.edu	37	2	71360050	71360050	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360050A>C	ENST00000244230.2	+	2	464	c.112A>C	c.(112-114)Aag>Cag	p.K38Q	MCEE_ENST00000244217.5_5'Flank|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.K38Q|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	38					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATTGGCATCAAAGTTCACTTC	0.313																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(112-114)Aag>Cag		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							35.0	40.0	38.0					2																	71360050		2136	4269	6405	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360050A>C	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.112A>C	2.37:g.71360050A>C	ENSP00000244230:p.Lys38Gln					MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.K38Q|MPHOSPH10_ENST00000468427.1_3'UTR	p.K38Q	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			2	464	+			38					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.112A>C	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.655363	0.29425	.	.	ENSG00000124383	ENST00000244230	T	0.09630	2.96	4.32	1.81	0.25067	.	0.546643	0.20687	N	0.087521	T	0.05731	0.0150	L	0.31578	0.945	0.80722	D	1	B;B	0.27625	0.183;0.116	B;B	0.24541	0.054;0.038	T	0.37979	-0.9682	10	0.13108	T	0.6	.	3.5489	0.07839	0.5949:0.1986:0.2065:0.0	.	38;38	B3KPV5;O00566	.;MPP10_HUMAN	Q	38	ENSP00000244230:K38Q	ENSP00000244230:K38Q	K	+	1	0	MPHOSPH10	71213558	1.000000	0.71417	0.279000	0.24732	0.986000	0.74619	4.872000	0.63050	0.269000	0.21961	0.454000	0.30748	AAG		0.313	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		10	30	0	0	0	1	0	10	30				
GLRA1	2741	broad.mit.edu	37	5	151202492	151202492	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:151202492G>T	ENST00000455880.2	-	9	1402	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	GLRA1_ENST00000545569.1_Missense_Mutation_p.F281L|GLRA1_ENST00000274576.4_Missense_Mutation_p.F364L			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	372					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATAGGCAGAGAAGTTAAAGC	0.547																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(1090-1092)ttC>ttA		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						75.0	71.0	72.0					5																	151202492		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151202492G>T		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1116C>A	5.37:g.151202492G>T	ENSP00000411593:p.Phe372Leu					GLRA1_ENST00000545569.1_Missense_Mutation_p.F281L|GLRA1_ENST00000455880.2_Missense_Mutation_p.F372L	p.F364L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		9	1384	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	372					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.1092C>A	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945071	0.34283	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85258	-1.96;-1.72;-1.96	4.77	2.98	0.34508	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	L	0.45352	1.415	0.50313	D	0.999867	B;B;B	0.23540	0.087;0.058;0.032	B;B;B	0.32762	0.152;0.152;0.029	T	0.63028	-0.6728	10	0.10636	T	0.68	.	8.26	0.31779	0.2418:0.0:0.7582:0.0	.	372;281;364	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	L	364;372;281	ENSP00000274576:F364L;ENSP00000411593:F372L;ENSP00000445913:F281L	ENSP00000274576:F364L	F	-	3	2	GLRA1	151182685	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.205000	0.51090	0.432000	0.26286	0.313000	0.20887	TTC		0.547	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			18	40	1	0	5.03518e-11	1	6.23768e-11	18	40				
F5	2153	broad.mit.edu	37	1	169511762	169511762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169511762C>A	ENST00000367797.3	-	13	2767	c.2566G>T	c.(2566-2568)Gaa>Taa	p.E856*	F5_ENST00000367796.3_Nonsense_Mutation_p.E861*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	856	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTTTTGAATTCTCCAGCACCA	0.448																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(2581-2583)Gaa>Taa		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						185.0	174.0	178.0					1																	169511762		2203	4300	6503	SO:0001587	stop_gained	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511762C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2566G>T	1.37:g.169511762C>A	ENSP00000356771:p.Glu856*					F5_ENST00000367797.3_Nonsense_Mutation_p.E856*	p.E861*			P12259	FA5_HUMAN			13	2782	-	all_hematologic(923;0.208)		856			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	ENST00000367797.3	37	c.2581G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	38	7.155068	0.98099	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.84	0.789	0.18607	.	0.794053	0.11653	N	0.542575	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-3.0334	5.1481	0.14996	0.0:0.5255:0.1548:0.3197	.	.	.	.	X	856;861	.	ENSP00000356770:E861X	E	-	1	0	F5	167778386	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.370000	0.20433	0.104000	0.17725	-0.237000	0.12165	GAA		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		72	108	1	0	6.5469e-37	1	9.42237e-37	72	108				
CACNA1E	777	broad.mit.edu	37	1	181727969	181727969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181727969G>T	ENST00000367573.2	+	32	4570	c.4570G>T	c.(4570-4572)Gaa>Taa	p.E1524*	CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E1524*|CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.E1505*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E1131*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E1475*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E1505*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E1456*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1524					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTTTTCCCTGGAATGTGTCCT	0.478																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4513-4515)Gaa>Taa		calcium channel, voltage-dependent, R type, alpha 1E subunit							249.0	224.0	232.0					1																	181727969		1949	4157	6106	SO:0001587	stop_gained	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181727969G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4570G>T	1.37:g.181727969G>T	ENSP00000356545:p.Glu1524*					CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E1456*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E1524*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.E1524*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E1505*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E1475*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E1131*	p.E1505*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			31	4678	+			1524					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Nonsense_Mutation	SNP	ENST00000367573.2	37	c.4513G>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	47	13.202721	0.99727	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0045	0.92844	0.0:0.0:1.0:0.0	.	.	.	.	X	1524;1505;1475;1456;1131;1505;1524	.	ENSP00000350183:E1475X	E	+	1	0	CACNA1E	179994592	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.338000	0.96553	2.583000	0.87209	0.561000	0.74099	GAA		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		22	37	1	0	0.000375601	1	0.000399622	22	37				
CAPRIN1	4076	broad.mit.edu	37	11	34093499	34093499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:34093499G>T	ENST00000341394.4	+	4	520	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.E30*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.E111*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	111					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GTTTGCAAAAGAATTACAGAG	0.333																																						ENST00000341394.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18						c.(331-333)Gaa>Taa		cell cycle associated protein 1							70.0	74.0	73.0					11																	34093499		2202	4298	6500	SO:0001587	stop_gained	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34093499G>T	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.331G>T	11.37:g.34093499G>T	ENSP00000340329:p.Glu111*					CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.E30*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.E111*	p.E111*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN			4	520	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	111					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Nonsense_Mutation	SNP	ENST00000341394.4	37	c.331G>T	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367185	0.95900	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820;ENST00000529307	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.5384	19.8414	0.96690	0.0:0.0:1.0:0.0	.	.	.	.	X	111;111;111;111;111;30	.	ENSP00000340329:E111X	E	+	1	0	CAPRIN1	34050075	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.553000	0.82203	2.680000	0.91292	0.563000	0.77884	GAA		0.333	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		12	8	1	0	0.000151284	1	0.00016287	12	8				
ANKRD50	57182	broad.mit.edu	37	4	125592847	125592847	+	Missense_Mutation	SNP	G	G	A	rs368187440		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:125592847G>A	ENST00000504087.1	-	4	2622	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R350W	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	529										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AATAATGTCCGAATGGAATCC	0.418																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(1585-1587)Cgg>Tgg		ankyrin repeat domain 50		G	TRP/ARG,TRP/ARG	1,4405		0,1,2202	118.0	116.0	117.0		1048,1585	2.9	1.0	4		117	0,8600		0,0,4300	no	missense,missense	ANKRD50	NM_001167882.1,NM_020337.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	350/1251,529/1430	125592847	1,13005	2203	4300	6503	SO:0001583	missense	57182							g.chr4:125592847G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1585C>T	4.37:g.125592847G>A	ENSP00000425658:p.Arg529Trp					ANKRD50_ENST00000515641.1_Missense_Mutation_p.R350W	p.R529W	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	2622	-			529					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1585C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011274	0.54361	2.27E-4	0.0	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66815	-0.23;2.33	4.74	2.92	0.33932	Ankyrin repeat-containing domain (4);	0.070783	0.53938	D	0.000053	T	0.81254	0.4784	M	0.87180	2.865	0.54753	D	0.999983	D	0.76494	0.999	P	0.62649	0.905	D	0.83854	0.0264	10	0.87932	D	0	.	13.1658	0.59571	0.0:0.0:0.6929:0.3071	.	529	Q9ULJ7	ANR50_HUMAN	W	529;350	ENSP00000425658:R529W;ENSP00000425355:R350W	ENSP00000425658:R529W	R	-	1	2	ANKRD50	125812297	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.558000	0.45879	0.541000	0.28827	0.555000	0.69702	CGG		0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		39	63	0	0	0	1	0	39	63				
PDE11A	50940	broad.mit.edu	37	2	178936534	178936534	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:178936534C>A	ENST00000286063.6	-	1	948	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	211					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTGGAGATATCTTTGACCAAT	0.478									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(631-633)Gat>Tat		phosphodiesterase 11A							126.0	108.0	114.0					2																	178936534		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936534C>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.631G>T	2.37:g.178936534C>A	ENSP00000286063:p.Asp211Tyr					PDE11A_ENST00000358450.4_Intron	p.D211Y	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	948	-			211					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.631G>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164183	0.78339	.	.	ENSG00000128655	ENST00000286063	T	0.70164	-0.46	5.28	5.28	0.74379	.	0.142764	0.64402	D	0.000009	D	0.83175	0.5197	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	D	0.86173	0.1601	10	0.87932	D	0	.	17.8847	0.88850	0.0:1.0:0.0:0.0	.	211	Q9HCR9	PDE11_HUMAN	Y	211	ENSP00000286063:D211Y	ENSP00000286063:D211Y	D	-	1	0	PDE11A	178644780	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.399000	0.79935	2.473000	0.83533	0.655000	0.94253	GAT		0.478	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			37	70	1	0	7.04047e-22	1	9.7605e-22	37	70				
NPTX2	4885	broad.mit.edu	37	7	98257875	98257875	+	Silent	SNP	C	C	T	rs199857878		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98257875C>T	ENST00000265634.3	+	5	1395	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	410	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V410V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAATAACGTCGATGTGTTCG	0.582																																						ENST00000265634.3																			1	Substitution - coding silent(1)	p.V410V(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1228-1230)gtC>gtT		neuronal pentraxin II		C		0,4406		0,0,2203	75.0	65.0	68.0		1230	-7.4	0.7	7		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPTX2	NM_002523.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		410/432	98257875	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257875C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1230C>T	7.37:g.98257875C>T							p.V410V	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	1395	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		410			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.1230C>T	CCDS5657.1																																																																																				0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	10	0	0	0	1	0	4	10				
ALLC	55821	broad.mit.edu	37	2	3729237	3729237	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3729237A>T	ENST00000252505.3	+	6	474	c.312A>T	c.(310-312)gaA>gaT	p.E104D		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	123					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AACTACCAGAAATCCCAGAAA	0.443										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(310-312)gaA>gaT		allantoicase							51.0	53.0	52.0					2																	3729237		1876	4101	5977	SO:0001583	missense	55821						allantoicase activity	g.chr2:3729237A>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.312A>T	2.37:g.3729237A>T	ENSP00000252505:p.Glu104Asp	HNSCC(21;0.051)					p.E104D	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	6	474	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	123					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.312A>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	A	0.631	-0.817349	0.02776	.	.	ENSG00000151360	ENST00000252505	.	.	.	4.98	-3.97	0.04094	Allantoicase domain (1);Galactose-binding domain-like (1);	0.755084	0.13315	N	0.397142	T	0.19846	0.0477	N	0.17800	0.525	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.22626	-1.0211	9	0.18710	T	0.47	-11.9901	5.9057	0.19001	0.2951:0.4444:0.2605:0.0	.	123	Q8N6M5	ALLC_HUMAN	D	104	.	ENSP00000252505:E104D	E	+	3	2	ALLC	3707112	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	-0.253000	0.08794	-0.399000	0.07668	-0.297000	0.09499	GAA		0.443	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			12	16	0	0	0	1	0	12	16				
SPATS1	221409	broad.mit.edu	37	6	44310906	44310906	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44310906G>A	ENST00000288390.2	+	1	421	c.74G>A	c.(73-75)gGc>gAc	p.G25D	SPATS1_ENST00000323108.8_Missense_Mutation_p.G25D|RP11-444E17.6_ENST00000505802.1_Intron			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	25										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGACCTGCGGCAGACAGCTG	0.517																																						ENST00000288390.2																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(73-75)gGc>gAc		spermatogenesis associated, serine-rich 1							65.0	64.0	64.0					6																	44310906		2203	4300	6503	SO:0001583	missense	221409							g.chr6:44310906G>A	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.74G>A	6.37:g.44310906G>A	ENSP00000424400:p.Gly25Asp					SPATS1_ENST00000323108.8_Missense_Mutation_p.G25D	p.G25D			Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		1	421	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		25					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.74G>A	CCDS4911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.63|13.63	2.294173|2.294173	0.40594|0.40594	.|.	.|.	ENSG00000249481|ENSG00000249481	ENST00000515220|ENST00000323108;ENST00000288390	.|T;T	.|0.55052	.|0.54;0.54	3.56|3.56	-0.476|-0.476	0.12100|0.12100	.|.	.|0.949213	.|0.08611	.|N	.|0.919944	T|T	0.14485|0.14485	0.0350|0.0350	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.25641|0.25641	-1.0126|-1.0126	5|10	.|0.46703	.|T	.|0.11	.|.	3.7169|3.7169	0.08441|0.08441	0.3515:0.1998:0.4488:0.0|0.3515:0.1998:0.4488:0.0	.|.	.|25	.|Q496A3	.|SPAS1_HUMAN	T|D	59|25	.|ENSP00000437552:G25D;ENSP00000424400:G25D	.|ENSP00000424400:G25D	A|G	+|+	1|2	0|0	SPATS1|SPATS1	44418884|44418884	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.070000|0.070000	0.16714|0.16714	-0.514000|-0.514000	0.06298|0.06298	-0.107000|-0.107000	0.12088|0.12088	-0.140000|-0.140000	0.14226|0.14226	GCA|GGC		0.517	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		23	49	0	0	0	1	0	23	49				
BCL6	604	broad.mit.edu	37	3	187451396	187451396	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:187451396T>C	ENST00000406870.2	-	3	452	c.86A>G	c.(85-87)gAc>gGc	p.D29G	RP11-211G3.3_ENST00000449623.1_Missense_Mutation_p.S72P|BCL6_ENST00000496823.1_5'Flank|BCL6_ENST00000450123.2_Missense_Mutation_p.D29G|BCL6_ENST00000232014.4_Missense_Mutation_p.D29G	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	29					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGTCAAGATGTCTCGACTCCG	0.512			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(85-87)gAc>gGc		B-cell CLL/lymphoma 6							141.0	135.0	137.0					3																	187451396		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187451396T>C		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.86A>G	3.37:g.187451396T>C	ENSP00000384371:p.Asp29Gly					BCL6_ENST00000450123.2_Missense_Mutation_p.D29G|RP11-211G3.3_ENST00000449623.1_Missense_Mutation_p.S72P|BCL6_ENST00000232014.4_Missense_Mutation_p.D29G	p.D29G	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	3	452	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		29					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.86A>G	CCDS3289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.94|18.94	3.729244|3.729244	0.69074|0.69074	.|.	.|.	ENSG00000113916|ENSG00000228804	ENST00000406870;ENST00000232014;ENST00000450123;ENST00000430339;ENST00000438077|ENST00000449623	T;T;T;T;T|.	0.68624|.	-0.34;-0.34;-0.34;-0.34;-0.34|.	5.7|5.7	5.7|5.7	0.88788|0.88788	BTB/POZ (1);BTB/POZ fold (2);|.	0.043026|.	0.85682|.	D|.	0.000000|.	T|T	0.36358|0.36358	0.0964|0.0964	N|N	0.02111|0.02111	-0.68|-0.68	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.997;0.998|.	D;D|.	0.85130|.	0.947;0.997|.	T|T	0.54255|0.54255	-0.8321|-0.8321	10|6	0.72032|0.87932	D|D	0.01|0	.|.	15.4556|15.4556	0.75311|0.75311	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	29;29|.	B8PSA7;P41182|.	.;BCL6_HUMAN|.	G|P	29|72	ENSP00000384371:D29G;ENSP00000232014:D29G;ENSP00000413122:D29G;ENSP00000415574:D29G;ENSP00000414455:D29G|.	ENSP00000232014:D29G|ENSP00000407813:S72P	D|S	-|+	2|1	0|0	BCL6|RP11-211G3.3	188934090|188934090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.788000|5.788000	0.69020|0.69020	2.299000|2.299000	0.77371|0.77371	0.528000|0.528000	0.53228|0.53228	GAC|TCT		0.512	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		42	96	0	0	0	1	0	42	96				
SGTB	54557	broad.mit.edu	37	5	65016598	65016598	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:65016598G>A	ENST00000381007.4	-	2	272	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	NLN_ENST00000380985.5_5'Flank|NLN_ENST00000502464.1_5'Flank	NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	13										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CGTAAGAAACGAATAACTGCA	0.328																																						ENST00000381007.4																			0				large_intestine(3)|lung(3)|skin(3)	9						c.(37-39)Cgt>Tgt		small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta							107.0	104.0	105.0					5																	65016598		2203	4300	6503	SO:0001583	missense	54557						binding	g.chr5:65016598G>A	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.37C>T	5.37:g.65016598G>A	ENSP00000370395:p.Arg13Cys						p.R13C	NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)	2	272	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)	13						Missense_Mutation	SNP	ENST00000381007.4	37	c.37C>T	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339221	0.81911	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.61742	0.08;0.09	5.37	5.37	0.77165	.	0.183165	0.50627	D	0.000116	T	0.52917	0.1764	L	0.34521	1.04	0.54753	D	0.999989	D	0.62365	0.991	P	0.44860	0.462	T	0.59386	-0.7464	10	0.66056	D	0.02	-1.5223	17.8898	0.88867	0.0:0.0:1.0:0.0	.	13	Q96EQ0	SGTB_HUMAN	C	13	ENSP00000370395:R13C;ENSP00000421447:R13C	ENSP00000370395:R13C	R	-	1	0	SGTB	65052354	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.483000	0.81158	2.502000	0.84385	0.563000	0.77884	CGT		0.328	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072		11	23	0	0	0	1	0	11	23				
SYCP3	50511	broad.mit.edu	37	12	102122937	102122937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102122937C>A	ENST00000392927.3	-	8	738	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E203*|SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E203*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	203	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E203K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTTTAAATTCATTTTGTGCA	0.279																																						ENST00000392927.3																			1	Substitution - Missense(1)	p.E203K(1)	lung(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(607-609)Gaa>Taa		synaptonemal complex protein 3							68.0	72.0	70.0					12																	102122937		2200	4289	6489	SO:0001587	stop_gained	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102122937C>A	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.607G>T	12.37:g.102122937C>A	ENSP00000376658:p.Glu203*					SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E203*|SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E203*	p.E203*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			8	738	-			203			Gln-rich.			Nonsense_Mutation	SNP	ENST00000392927.3	37	c.607G>T	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525016	0.85600	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.37	4.48	0.54585	.	0.188111	0.44285	D	0.000464	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-8.8847	13.7728	0.63036	0.0:0.9257:0.0:0.0743	.	.	.	.	X	203	.	ENSP00000266743:E203X	E	-	1	0	SYCP3	100647068	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	6.813000	0.75231	1.258000	0.44101	0.455000	0.32223	GAA		0.279	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		6	17	1	0	0.00116845	1	0.00122532	6	17				
SMARCA1	6594	broad.mit.edu	37	X	128599822	128599822	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128599822T>G	ENST00000371122.4	-	22	2945	c.2816A>C	c.(2815-2817)aAa>aCa	p.K939T	SMARCA1_ENST00000371123.1_Splice_Site_p.K927T|SMARCA1_ENST00000371121.3_Splice_Site_p.K927T	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	939					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATAGTACTTTGGCATCCAG	0.333																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.e22+1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							168.0	150.0	156.0					X																	128599822		2203	4300	6503	SO:0001630	splice_region_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599822T>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2817+1A>C	X.37:g.128599822T>G						SMARCA1_ENST00000371123.1_Splice_Site_p.K927_splice|SMARCA1_ENST00000371121.3_Splice_Site_p.K927_splice	p.K939_splice	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			22	2945	-			939					Q5JV41|Q5JV42	Splice_Site	SNP	ENST00000371122.4	37	c.2817_splice	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328914	0.81690	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.1	5.59	5.59	0.84812	SLIDE (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.97139	0.9065	H	0.94734	3.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98156	1.0444	10	0.87932	D	0	-20.2929	14.7753	0.69726	0.0:0.0:0.0:1.0	.	918;939;927;939	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	T	927;927;939;918	ENSP00000360162:K927T;ENSP00000360164:K927T;ENSP00000360163:K939T;ENSP00000404275:K918T	ENSP00000360162:K927T	K	-	2	0	SMARCA1	128427503	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.989000	0.88205	1.870000	0.54199	0.486000	0.48141	AAA		0.333	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	Missense_Mutation	12	82	0	0	0	1	0	12	82				
DNAH5	1767	broad.mit.edu	37	5	13766094	13766094	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13766094C>T	ENST00000265104.4	-	59	10196	c.10092G>A	c.(10090-10092)caG>caA	p.Q3364Q	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3364	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGTAAGTTCTGTAAAAAGT	0.408									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10090-10092)caG>caA		dynein, axonemal, heavy chain 5							115.0	117.0	116.0					5																	13766094		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766094C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10092G>A	5.37:g.13766094C>T						DNAH5_ENST00000504001.3_Intron	p.Q3364Q	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			59	10196	-	Lung NSC(4;0.00476)		3364			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.10092G>A	CCDS3882.1																																																																																				0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		45	69	0	0	0	1	0	45	69				
LAMC1	3915	broad.mit.edu	37	1	183102561	183102561	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:183102561T>C	ENST00000258341.4	+	22	3982	c.3725T>C	c.(3724-3726)aTc>aCc	p.I1242T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1242	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCGAAGAACATCTCACAGGAT	0.443																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(3724-3726)aTc>aCc		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						136.0	132.0	133.0					1																	183102561		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183102561T>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3725T>C	1.37:g.183102561T>C	ENSP00000258341:p.Ile1242Thr						p.I1242T	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			22	3982	+			1242			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3725T>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699797	0.30142	.	.	ENSG00000135862	ENST00000258341	T	0.21191	2.02	5.41	5.41	0.78517	.	0.247767	0.39615	N	0.001316	T	0.21761	0.0524	L	0.51422	1.61	0.52501	D	0.999957	B	0.11235	0.004	B	0.09377	0.004	T	0.02877	-1.1099	10	0.25751	T	0.34	.	15.3875	0.74714	0.0:0.0:0.0:1.0	.	1242	P11047	LAMC1_HUMAN	T	1242	ENSP00000258341:I1242T	ENSP00000258341:I1242T	I	+	2	0	LAMC1	181369184	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.415000	0.66411	2.173000	0.68751	0.460000	0.39030	ATC		0.443	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		45	91	0	0	0	1	0	45	91				
FAT1	2195	broad.mit.edu	37	4	187539012	187539012	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187539012C>T	ENST00000441802.2	-	10	8937	c.8728G>A	c.(8728-8730)Gat>Aat	p.D2910N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2910	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGTTGACATCGGTGACGGTA	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(8728-8730)Gat>Aat		FAT atypical cadherin 1							154.0	144.0	148.0					4																	187539012		2017	4178	6195	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539012C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8728G>A	4.37:g.187539012C>T	ENSP00000406229:p.Asp2910Asn	HNSCC(5;0.00058)					p.D2910N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8937	-			2910			Cadherin 26.			Missense_Mutation	SNP	ENST00000441802.2	37	c.8728G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480400	0.63849	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.67698	-0.28	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87529	0.2451	10	0.72032	D	0.01	.	18.7858	0.91954	0.0:1.0:0.0:0.0	.	2910	Q14517	FAT1_HUMAN	N	2910;2912	ENSP00000406229:D2910N	ENSP00000260147:D2912N	D	-	1	0	FAT1	187776006	1.000000	0.71417	0.147000	0.22382	0.190000	0.23558	7.609000	0.82925	2.740000	0.93945	0.650000	0.86243	GAT		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		12	71	0	0	0	1	0	12	71				
USP24	23358	broad.mit.edu	37	1	55613398	55613398	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55613398C>T	ENST00000294383.6	-	18	2041	c.2042G>A	c.(2041-2043)cGg>cAg	p.R681Q	USP24_ENST00000407756.1_Missense_Mutation_p.R521Q	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	681					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGCTGCAAGCCGATGACAAGC	0.458																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(2041-2043)cGg>cAg		ubiquitin specific peptidase 24							25.0	29.0	28.0					1																	55613398		1945	4151	6096	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55613398C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2042G>A	1.37:g.55613398C>T	ENSP00000294383:p.Arg681Gln					USP24_ENST00000407756.1_Missense_Mutation_p.R521Q	p.R681Q	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			18	2041	-			681					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.2042G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	35	5.440983	0.96168	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02301	4.36;4.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.04634	0.0126	N	0.12746	0.255	0.51012	D	0.999906	D	0.64830	0.994	D	0.64042	0.921	T	0.61821	-0.6984	10	0.07644	T	0.81	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	521	B7WPF4	.	Q	681;521	ENSP00000294383:R681Q;ENSP00000385700:R521Q	ENSP00000294383:R681Q	R	-	2	0	USP24	55385986	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGG		0.458	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			7	15	0	0	0	1	0	7	15				
MAP7D2	256714	broad.mit.edu	37	X	20060638	20060638	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:20060638G>T	ENST00000379651.3	-	7	884	c.866C>A	c.(865-867)tCt>tAt	p.S289Y	MAP7D2_ENST00000379643.5_Missense_Mutation_p.S330Y|MAP7D2_ENST00000543767.1_Missense_Mutation_p.S174Y|MAP7D2_ENST00000443379.3_Missense_Mutation_p.S244Y|MAP7D2_ENST00000452324.3_Missense_Mutation_p.S237Y	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	289					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CACAGGAGAAGATGGTCTCTT	0.502																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(865-867)tCt>tAt		MAP7 domain containing 2							163.0	143.0	149.0					X																	20060638		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20060638G>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.866C>A	X.37:g.20060638G>T	ENSP00000368972:p.Ser289Tyr					MAP7D2_ENST00000543767.1_Missense_Mutation_p.S174Y|MAP7D2_ENST00000452324.3_Missense_Mutation_p.S237Y|MAP7D2_ENST00000443379.3_Missense_Mutation_p.S244Y|MAP7D2_ENST00000379643.5_Missense_Mutation_p.S330Y	p.S289Y	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			7	884	-			289					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.866C>A	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957620	0.18507	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	5.43	4.54	0.55810	.	0.079472	0.53938	D	0.000053	T	0.09555	0.0235	M	0.68952	2.095	0.34507	D	0.706715	B;B;B;B;B	0.33318	0.286;0.408;0.408;0.286;0.408	B;B;B;B;B	0.31101	0.058;0.124;0.124;0.058;0.124	T	0.07654	-1.0761	10	0.66056	D	0.02	-7.3464	12.2505	0.54595	0.0:0.0:0.829:0.171	.	244;237;330;289;174	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	Y	289;330;174;244;237	ENSP00000368972:S289Y;ENSP00000368964:S330Y;ENSP00000440691:S174Y;ENSP00000388239:S244Y;ENSP00000413301:S237Y	ENSP00000368964:S330Y	S	-	2	0	MAP7D2	19970559	1.000000	0.71417	0.523000	0.27875	0.106000	0.19336	6.129000	0.71657	1.118000	0.41863	0.600000	0.82982	TCT		0.502	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		84	147	1	0	3.49902e-48	1	5.0748e-48	84	147				
PCDHGA2	56113	broad.mit.edu	37	5	140720038	140720038	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140720038C>T	ENST00000394576.2	+	1	1500	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGGCACCCTTATCCTCTT	0.517																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1498-1500)ccC>ccT									91.0	95.0	94.0					5																	140720038		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140720038C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1500C>T	5.37:g.140720038C>T						PCDHGA1_ENST00000517417.1_Intron	p.P500P	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1500	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1500C>T	CCDS47289.1																																																																																				0.517	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		41	95	0	0	0	1	0	41	95				
NFATC4	4776	broad.mit.edu	37	14	24836377	24836377	+	5'Flank	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24836377T>A	ENST00000250373.4	+	0	0				NFATC4_ENST00000554966.1_5'Flank|NFATC4_ENST00000424781.2_5'Flank|NFATC4_ENST00000553879.1_5'Flank|NFATC4_ENST00000413692.2_Missense_Mutation_p.F39L|NFATC4_ENST00000539237.2_5'Flank|NFATC4_ENST00000553469.1_5'Flank|NFATC4_ENST00000554344.1_5'Flank|NFATC4_ENST00000556279.1_5'Flank|NFATC4_ENST00000554661.1_5'Flank|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553708.1_5'Flank|NFATC4_ENST00000555453.1_5'Flank|NFATC4_ENST00000555590.1_5'Flank|NFATC4_ENST00000554050.1_5'Flank|NFATC4_ENST00000556169.1_5'Flank|NFATC4_ENST00000422617.3_5'Flank|NFATC4_ENST00000557451.1_5'Flank|NFATC4_ENST00000554591.1_Missense_Mutation_p.F39L	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4						cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|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 negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCTGACTTTCCCGGAAACT	0.627																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(115-117)ttT>ttA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							95.0	95.0	95.0					14																	24836377		1568	3582	5150	SO:0001631	upstream_gene_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24836377T>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351		14.37:g.24836377T>A	Exception_encountered					NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.F39L	p.F39L	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	261	+			0					B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.117T>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	T	5.258	0.233120	0.09969	.	.	ENSG00000100968	ENST00000413692;ENST00000554591	T;T	0.06294	3.32;3.34	4.64	4.64	0.57946	.	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	0.50313	D	0.999866	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35201	-0.9798	9	0.07175	T	0.84	.	10.3619	0.43998	0.0:0.0:0.0:1.0	.	39;39;39	Q14934-2;Q14934-3;Q14934-11	.;.;.	L	39	ENSP00000388910:F39L;ENSP00000452039:F39L	ENSP00000388910:F39L	F	+	3	2	NFATC4	23906217	0.023000	0.18921	0.656000	0.29637	0.004000	0.04260	0.583000	0.23849	1.949000	0.56562	0.477000	0.44152	TTT		0.627	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		13	40	0	0	0	1	0	13	40				
ADAM17	6868	broad.mit.edu	37	2	9676860	9676860	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:9676860T>G	ENST00000310823.3	-	3	510	c.328A>C	c.(328-330)Aaa>Caa	p.K110Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.K110Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	110					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TCCTGCCATTTTACAGTGTAC	0.418																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(328-330)Aaa>Caa		ADAM metallopeptidase domain 17							196.0	166.0	176.0					2																	9676860		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9676860T>G	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.328A>C	2.37:g.9676860T>G	ENSP00000309968:p.Lys110Gln					ADAM17_ENST00000497134.1_Missense_Mutation_p.K110Q	p.K110Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	3	510	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		110					O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.328A>C	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	5.965	0.362064	0.11296	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.05925	3.37;3.37	5.42	5.42	0.78866	Peptidase M12B, propeptide (1);	0.292121	0.38381	N	0.001705	T	0.04407	0.0121	N	0.11724	0.165	0.30137	N	0.804284	B;B;B;B	0.15930	0.015;0.0;0.008;0.0	B;B;B;B	0.17433	0.018;0.002;0.018;0.002	T	0.19031	-1.0318	10	0.30078	T	0.28	.	11.8245	0.52259	0.0:0.0:0.1888:0.8112	.	110;110;110;110	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	Q	110	ENSP00000309968:K110Q;ENSP00000418728:K110Q	ENSP00000309968:K110Q	K	-	1	0	ADAM17	9594311	0.989000	0.36119	0.192000	0.23308	0.381000	0.30169	2.542000	0.45744	2.045000	0.60652	0.477000	0.44152	AAA		0.418	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			28	48	0	0	0	1	0	28	48				
SCN5A	6331	broad.mit.edu	37	3	38595795	38595795	+	Silent	SNP	G	G	A	rs141789366	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38595795G>A	ENST00000333535.4	-	27	4937	c.4788C>T	c.(4786-4788)ttC>ttT	p.F1596F	SCN5A_ENST00000450102.2_Silent_p.F1542F|SCN5A_ENST00000443581.1_Silent_p.F1595F|SCN5A_ENST00000425664.1_Silent_p.F1578F|SCN5A_ENST00000423572.2_Silent_p.F1595F|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000449557.2_Silent_p.F1542F|SCN5A_ENST00000414099.2_Silent_p.F1578F|SCN5A_ENST00000451551.2_Silent_p.F1542F|SCN5A_ENST00000413689.1_Silent_p.F1596F			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1596					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.F1596F(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGACAACCACGAAGTCGAAGA	0.567													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18696	0.0		0.0	False		,,,				2504	0.0					ENST00000413689.1																			2	Substitution - coding silent(2)	p.F1596F(2)	large_intestine(2)	NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4786-4788)ttC>ttT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	,,,,,	5,4161		0,5,2078	111.0	114.0	113.0		4785,4788,4734,,4626,4788	-0.7	1.0	3	dbSNP_134	113	0,8444		0,0,4222	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,5,6300	AA,AG,GG		0.0,0.12,0.0397	,,,,,	1595/2016,1596/2017,1578/1999,,1542/1963,1596/2017	38595795	5,12605	2083	4222	6305	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38595795G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4788C>T	3.37:g.38595795G>A						SCN5A_ENST00000333535.4_Silent_p.F1596F|SCN5A_ENST00000423572.2_Silent_p.F1595F|SCN5A_ENST00000414099.2_Silent_p.F1578F|SCN5A_ENST00000443581.1_Silent_p.F1595F|SCN5A_ENST00000425664.1_Silent_p.F1578F|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000451551.2_Silent_p.F1542F|SCN5A_ENST00000450102.2_Silent_p.F1542F|SCN5A_ENST00000449557.2_Silent_p.F1542F|SCN5A_ENST00000464652.1_5'UTR	p.F1596F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	27	4981	-	Medulloblastoma(35;0.163)		1596					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.4788C>T	CCDS46796.1																																																																																				0.567	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		28	44	0	0	0	1	0	28	44				
GRIK3	2899	broad.mit.edu	37	1	37325529	37325529	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:37325529G>A	ENST00000373091.3	-	6	892	c.876C>T	c.(874-876)gtC>gtT	p.V292V	GRIK3_ENST00000373093.4_Silent_p.V292V|GRIK3_ENST00000462621.1_5'Flank	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	292					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CAATGGCCGAGACGTGTGGGT	0.587																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(874-876)gtC>gtT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						102.0	105.0	104.0					1																	37325529		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37325529G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.876C>T	1.37:g.37325529G>A						GRIK3_ENST00000373093.4_Silent_p.V292V	p.V292V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			6	892	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	292					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.876C>T	CCDS416.1																																																																																				0.587	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		36	65	0	0	0	1	0	36	65				
C12orf74	338809	broad.mit.edu	37	12	93100661	93100661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93100661C>A	ENST00000397833.3	+	2	705	c.254C>A	c.(253-255)tCg>tAg	p.S85*	C12orf74_ENST00000544406.2_Nonsense_Mutation_p.S85*	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	85										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TGTTACCTTTCGAAGAGCCTG	0.562																																						ENST00000544406.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						c.(253-255)tCg>tAg		chromosome 12 open reading frame 74							45.0	47.0	47.0					12																	93100661		1889	4113	6002	SO:0001587	stop_gained	338809							g.chr12:93100661C>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.254C>A	12.37:g.93100661C>A	ENSP00000380933:p.Ser85*					C12orf74_ENST00000397833.3_Nonsense_Mutation_p.S85*	p.S85*			Q32Q52	CL074_HUMAN			2	520	+			85					F5H4P0	Nonsense_Mutation	SNP	ENST00000397833.3	37	c.254C>A	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153013	0.94645	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.11	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.41655	D	0.98915	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6469	0.22941	0.0:0.7846:0.0:0.2154	.	.	.	.	X	85	.	ENSP00000380933:S85X	S	+	2	0	C12orf74	91624792	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.041000	0.12084	0.692000	0.31613	0.455000	0.32223	TCG		0.562	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		21	60	1	0	1.2644e-06	1	1.4261e-06	21	60				
CACNA1E	777	broad.mit.edu	37	1	181724489	181724489	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181724489C>A	ENST00000367573.2	+	28	3945	c.3945C>A	c.(3943-3945)ttC>ttA	p.F1315L	CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1315L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F1296L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F922L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1266L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1296L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1247L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1315					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.F1315L(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGGAAAGTTCTTTTATTGCA	0.448																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.F1315L(1)	large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3886-3888)ttC>ttA		calcium channel, voltage-dependent, R type, alpha 1E subunit							231.0	226.0	228.0					1																	181724489		2073	4225	6298	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181724489C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3945C>A	1.37:g.181724489C>A	ENSP00000356545:p.Phe1315Leu					CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1247L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1315L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1315L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1296L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1266L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F922L	p.F1296L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			27	4053	+			1315					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3888C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123710	0.56613	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	L	0.57536	1.79	0.80722	D	1	B;D;D	0.65815	0.179;0.995;0.974	P;D;D	0.70487	0.454;0.957;0.969	D	0.98296	1.0516	10	0.62326	D	0.03	.	13.2788	0.60202	0.0:0.9214:0.0:0.0786	.	1296;1315;1315	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1315;1296;1266;1247;922;1296;1315	ENSP00000356542:F1315L;ENSP00000434814:F1296L;ENSP00000350183:F1266L;ENSP00000351101:F1247L;ENSP00000356539:F922L;ENSP00000353222:F1296L;ENSP00000356545:F1315L	ENSP00000350183:F1266L	F	+	3	2	CACNA1E	179991112	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.586000	0.23894	2.468000	0.83385	0.650000	0.86243	TTC		0.448	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		69	115	1	0	2.165e-29	1	3.08197e-29	69	115				
MSH6	2956	broad.mit.edu	37	2	48026710	48026710	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48026710G>T	ENST00000234420.5	+	4	1740	c.1588G>T	c.(1588-1590)Gat>Tat	p.D530Y	MSH6_ENST00000540021.1_Missense_Mutation_p.D400Y|MSH6_ENST00000538136.1_Missense_Mutation_p.D228Y|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	530					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGGAAGGTGATCCCTCTGA	0.428			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1588-1590)Gat>Tat	Mismatch excision repair (MMR)	mutS homolog 6							128.0	124.0	125.0					2																	48026710		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026710G>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1588G>T	2.37:g.48026710G>T	ENSP00000234420:p.Asp530Tyr					MSH6_ENST00000538136.1_Missense_Mutation_p.D228Y|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.D400Y	p.D530Y	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1740	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	530					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1588G>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277708	0.40294	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.89196	-2.11;-2.22;-2.48	5.24	4.35	0.52113	.	0.272209	0.41294	D	0.000914	D	0.91835	0.7416	M	0.73372	2.23	0.80722	D	1	D;D;D	0.62365	0.966;0.966;0.991	P;P;P	0.60609	0.781;0.781;0.877	D	0.91945	0.5566	10	0.87932	D	0	-5.25	9.5943	0.39565	0.1561:0.0:0.8439:0.0	.	400;530;530	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	Y	530;528;400;228	ENSP00000234420:D530Y;ENSP00000446475:D400Y;ENSP00000438580:D228Y	ENSP00000234420:D530Y	D	+	1	0	MSH6	47880214	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.746000	0.74866	2.458000	0.83093	0.650000	0.86243	GAT		0.428	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		26	42	1	0	9.04412e-07	1	1.02139e-06	26	42				
ANK1	286	broad.mit.edu	37	8	41530024	41530024	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41530024C>A	ENST00000347528.4	-	38	5027	c.4944G>T	c.(4942-4944)gaG>gaT	p.E1648D	ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D|ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000396942.1_Missense_Mutation_p.E1648D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1648	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGGCAGCTTCTCTTCTGACC	0.537																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4942-4944)gaG>gaT		ankyrin 1, erythrocytic							238.0	217.0	224.0					8																	41530024		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530024C>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4944G>T	8.37:g.41530024C>A	ENSP00000339620:p.Glu1648Asp					ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000347528.4_Missense_Mutation_p.E1648D|ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D	p.E1648D			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	5027	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1648			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4944G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266106	0.80358	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	5.24	0.73138	.	0.202601	0.32401	N	0.006152	T	0.15262	0.0368	N	0.08118	0	0.27895	N	0.939179	P;B;P;B	0.41848	0.739;0.435;0.763;0.417	B;B;B;B	0.38500	0.275;0.073;0.153;0.215	T	0.09997	-1.0649	10	0.18710	T	0.47	.	11.7187	0.51670	0.0:0.9191:0.0:0.0809	.	1689;1648;1648;1648	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	D	1648;1648;1648;1648;1648;1648;1689	ENSP00000339620:E1648D;ENSP00000289734:E1648D;ENSP00000369082:E1648D;ENSP00000380149:E1648D;ENSP00000380147:E1648D;ENSP00000309131:E1648D;ENSP00000265709:E1689D	ENSP00000265709:E1689D	E	-	3	2	ANK1	41649181	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.413000	0.44618	2.635000	0.89317	0.552000	0.68991	GAG		0.537	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		86	130	1	0	2.00703e-41	1	2.9019e-41	86	130				
CADPS	8618	broad.mit.edu	37	3	62535683	62535683	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62535683G>A	ENST00000383710.4	-	11	2210	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CADPS_ENST00000357948.3_Missense_Mutation_p.R621W|CADPS_ENST00000283269.9_Missense_Mutation_p.R621W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	621	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCCGTGGCCCGATACATGGCC	0.577																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1861-1863)Cgg>Tgg		Ca++-dependent secretion activator							137.0	125.0	129.0					3																	62535683		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62535683G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1861C>T	3.37:g.62535683G>A	ENSP00000373215:p.Arg621Trp					CADPS_ENST00000283269.9_Missense_Mutation_p.R621W|CADPS_ENST00000357948.3_Missense_Mutation_p.R621W	p.R621W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	11	2210	-		Lung SC(41;0.0452)	621			PH.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1861C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036731	0.75617	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T;T	0.76316	0.48;0.5;0.51;-1.01	4.71	3.8	0.43715	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.86814	0.6023	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.994;0.995;0.996	D	0.88064	0.2796	10	0.87932	D	0	.	12.1808	0.54211	0.0:0.0:0.6792:0.3208	.	621;621;621;621	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	W	621;621;621;621;116	ENSP00000373215:R621W;ENSP00000350632:R621W;ENSP00000283269:R621W;ENSP00000439528:R116W	ENSP00000283269:R621W	R	-	1	2	CADPS	62510723	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	3.037000	0.49775	1.283000	0.44513	0.585000	0.79938	CGG		0.577	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		40	76	0	0	0	1	0	40	76				
NPR2	4882	broad.mit.edu	37	9	35807134	35807134	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35807134C>T	ENST00000342694.2	+	17	2889	c.2634C>T	c.(2632-2634)acC>acT	p.T878T	SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	878	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CAGAGAGCACCCCCATGCAGG	0.522																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2632-2634)acC>acT		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						68.0	62.0	64.0					9																	35807134		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35807134C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2634C>T	9.37:g.35807134C>T							p.T878T	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		17	2889	+	all_epithelial(49;0.161)		878			Guanylate cyclase.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.2634C>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	5.111	0.206092	0.09704	.	.	ENSG00000159899	ENST00000421267	.	.	.	6.17	4.34	0.51931	.	.	.	.	.	T	0.61388	0.2343	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57871	-0.7736	4	.	.	.	.	10.0096	0.41979	0.0:0.7827:0.0:0.2173	.	.	.	.	L	225	.	.	P	+	2	0	NPR2	35797134	0.730000	0.28100	1.000000	0.80357	0.999000	0.98932	-0.098000	0.11024	0.939000	0.37446	0.655000	0.94253	CCC		0.522	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			13	42	0	0	0	1	0	13	42				
LRIG1	26018	broad.mit.edu	37	3	66434631	66434631	+	Missense_Mutation	SNP	C	C	T	rs140303911		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:66434631C>T	ENST00000273261.3	-	14	2379	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Missense_Mutation_p.E643K	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	619	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.E619K(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCAGCACATTCGAGGCGGGCC	0.582																																						ENST00000383703.3																			1	Substitution - Missense(1)	p.E619K(1)	skin(1)	NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1927-1929)Gaa>Aaa		leucine-rich repeats and immunoglobulin-like domains 1							175.0	168.0	170.0					3																	66434631		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66434631C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1855G>A	3.37:g.66434631C>T	ENSP00000273261:p.Glu619Lys					SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.E619K	p.E643K			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	15	2530	-		Lung NSC(201;0.0101)	619			Ig-like C2-type 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.1927G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984359	0.93044	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.67865	-0.29;-0.29	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	N	0.20986	0.625	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74348	0.983;0.979;0.979	T	0.75238	-0.3388	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	643;619;619	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	K	619;643;522	ENSP00000273261:E619K;ENSP00000373208:E643K	ENSP00000273261:E619K	E	-	1	0	LRIG1	66517321	1.000000	0.71417	0.181000	0.23098	0.322000	0.28314	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	GAA		0.582	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		48	100	0	0	0	1	0	48	100				
SI	6476	broad.mit.edu	37	3	164725732	164725732	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164725732T>G	ENST00000264382.3	-	36	4296	c.4234A>C	c.(4234-4236)Aat>Cat	p.N1412H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1412	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGTTCGTCATTTCTGCATTGA	0.259										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4234-4236)Aat>Cat		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						148.0	154.0	152.0					3																	164725732		2202	4293	6495	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164725732T>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4234A>C	3.37:g.164725732T>G	ENSP00000264382:p.Asn1412His	HNSCC(35;0.089)					p.N1412H	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			36	4296	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1412			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4234A>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160158	0.38119	.	.	ENSG00000090402	ENST00000264382	D	0.89270	-2.49	4.92	3.76	0.43208	Glycoside hydrolase, superfamily (1);	0.349225	0.31601	N	0.007364	D	0.90974	0.7162	M	0.64404	1.975	0.34921	D	0.748393	P	0.40602	0.723	P	0.54706	0.759	D	0.92810	0.6263	10	0.66056	D	0.02	.	8.7642	0.34694	0.0:0.0867:0.0:0.9133	.	1412	P14410	SUIS_HUMAN	H	1412	ENSP00000264382:N1412H	ENSP00000264382:N1412H	N	-	1	0	SI	166208426	0.978000	0.34361	0.900000	0.35374	0.306000	0.27790	0.171000	0.16685	0.907000	0.36646	0.477000	0.44152	AAT		0.259	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		12	33	0	0	0	1	0	12	33				
ZNF267	10308	broad.mit.edu	37	16	31926769	31926769	+	Missense_Mutation	SNP	G	G	T	rs372256746		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31926769G>T	ENST00000300870.10	+	4	1408	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	400					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATCAGAGAATTCACACT	0.368																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1198-1200)aGa>aTa		zinc finger protein 267							49.0	54.0	52.0					16																	31926769		2195	4296	6491	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926769G>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1199G>T	16.37:g.31926769G>T	ENSP00000300870:p.Arg400Ile					RP11-170L3.8_ENST00000575471.1_RNA	p.R400I	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	1408	+			400					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1199G>T	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	11.55	1.670983	0.29693	.	.	ENSG00000185947	ENST00000300870	T	0.24908	1.83	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19765	0.0475	M	0.80422	2.495	0.80722	D	1	P	0.47106	0.89	B	0.31016	0.123	T	0.17018	-1.0383	9	0.54805	T	0.06	.	2.8152	0.05454	0.3857:0.0:0.6143:0.0	.	400	Q14586	ZN267_HUMAN	I	400	ENSP00000300870:R400I	ENSP00000300870:R400I	R	+	2	0	ZNF267	31834270	0.004000	0.15560	0.604000	0.28916	0.580000	0.36256	0.055000	0.14229	0.482000	0.27582	0.484000	0.47621	AGA		0.368	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		16	41	1	0	0.00316338	1	0.00328853	16	41				
FAM135A	57579	broad.mit.edu	37	6	71233777	71233777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71233777C>A	ENST00000418814.2	+	14	1825	c.1211C>A	c.(1210-1212)tCa>tAa	p.S404*	FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S404*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.S387*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S404*|FAM135A_ENST00000370479.3_Nonsense_Mutation_p.S387*|FAM135A_ENST00000505769.1_Nonsense_Mutation_p.S404*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	404										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GATCTCAATTCATTACCTATA	0.328																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1210-1212)tCa>tAa		family with sequence similarity 135, member A							67.0	65.0	66.0					6																	71233777		2203	4300	6503	SO:0001587	stop_gained	57579							g.chr6:71233777C>A	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1211C>A	6.37:g.71233777C>A	ENSP00000410768:p.Ser404*					FAM135A_ENST00000370479.3_Nonsense_Mutation_p.S387*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S404*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S404*|FAM135A_ENST00000505769.1_Nonsense_Mutation_p.S404*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.S387*	p.S404*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			14	1825	+			404					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Nonsense_Mutation	SNP	ENST00000418814.2	37	c.1211C>A	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	37	6.247750	0.97412	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	.	.	.	X	404;387;404;404;387;404;404	.	ENSP00000354913:S404X	S	+	2	0	FAM135A	71290498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.814000	0.96858	0.591000	0.81541	TCA		0.328	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		9	12	1	0	0.000274275	1	0.000292037	9	12				
NLGN3	54413	broad.mit.edu	37	X	70375128	70375128	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70375128G>A	ENST00000358741.3	+	5	945	c.642G>A	c.(640-642)ggG>ggA	p.G214G	NLGN3_ENST00000374051.3_Silent_p.G194G|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.G174G	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	214					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACATGGAAGGGACAGGCAACA	0.552																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(580-582)ggG>ggA		neuroligin 3							272.0	168.0	203.0					X																	70375128		2203	4300	6503	SO:0001819	synonymous_variant	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70375128G>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.642G>A	X.37:g.70375128G>A						NLGN3_ENST00000536169.1_Silent_p.G174G|NLGN3_ENST00000358741.3_Silent_p.G214G|NLGN3_ENST00000476589.1_3'UTR	p.G194G	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			4	904	+	Renal(35;0.156)		214					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	c.582G>A	CCDS55441.1																																																																																				0.552	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		29	55	0	0	0	1	0	29	55				
NPFF	8620	broad.mit.edu	37	12	53901163	53901163	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53901163G>T	ENST00000267017.3	-	1	259	c.96C>A	c.(94-96)ctC>ctA	p.L32L	RP11-793H13.10_ENST00000591834.1_Intron|NPFF_ENST00000609999.1_5'UTR	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	32					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCACCGCGGAGAGCTGGTCTT	0.567																																						ENST00000267017.3																			0				haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						c.(94-96)ctC>ctA		neuropeptide FF-amide peptide precursor							132.0	123.0	126.0					12																	53901163		2203	4300	6503	SO:0001819	synonymous_variant	8620				neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr12:53901163G>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.96C>A	12.37:g.53901163G>T						RP11-793H13.10_ENST00000591834.1_Intron	p.L32L	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN			1	259	-			32					Q3SXL4	Silent	SNP	ENST00000267017.3	37	c.96C>A	CCDS8862.1																																																																																				0.567	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		34	54	1	0	1.36615e-20	1	1.87316e-20	34	54				
SEC61A1	29927	broad.mit.edu	37	3	127785899	127785899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:127785899C>T	ENST00000243253.3	+	9	1064	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	SEC61A1_ENST00000464451.1_Nonsense_Mutation_p.Q300*|SEC61A1_ENST00000424880.2_Nonsense_Mutation_p.Q174*|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	294					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CATCATCCTGCAGTCTGCCCT	0.557																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(880-882)Cag>Tag		Sec61 alpha 1 subunit (S. cerevisiae)							242.0	187.0	206.0					3																	127785899		2203	4300	6503	SO:0001587	stop_gained	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127785899C>T	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.880C>T	3.37:g.127785899C>T	ENSP00000243253:p.Gln294*					RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000464451.1_Nonsense_Mutation_p.Q300*|SEC61A1_ENST00000424880.2_Nonsense_Mutation_p.Q174*	p.Q294*	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			9	1064	+			294					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Nonsense_Mutation	SNP	ENST00000243253.3	37	c.880C>T	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	C	37	6.207090	0.97376	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.7202	0.91689	0.0:1.0:0.0:0.0	.	.	.	.	X	300;294;174	.	ENSP00000243253:Q294X	Q	+	1	0	SEC61A1	129268589	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.818000	0.86416	2.411000	0.81874	0.563000	0.77884	CAG		0.557	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		18	94	0	0	0	1	0	18	94				
REPS2	9185	broad.mit.edu	37	X	17153397	17153397	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:17153397C>A	ENST00000357277.3	+	16	1847	c.1676C>A	c.(1675-1677)tCt>tAt	p.S559Y	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Missense_Mutation_p.S558Y|REPS2_ENST00000380064.4_Missense_Mutation_p.S358Y	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	559	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GTACTGTATTCTCAGCCACCA	0.423																																						ENST00000357277.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17						c.(1675-1677)tCt>tAt		RALBP1 associated Eps domain containing 2							122.0	126.0	125.0					X																	17153397		2203	4299	6502	SO:0001583	missense	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17153397C>A	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1676C>A	X.37:g.17153397C>A	ENSP00000349824:p.Ser559Tyr					REPS2_ENST00000303843.7_Missense_Mutation_p.S558Y|REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Missense_Mutation_p.S358Y	p.S559Y	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN			16	1847	+	Hepatocellular(33;0.183)		559			Interaction with RALBP1.		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	c.1676C>A	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860974	0.32884	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.34472	1.37;1.36;1.37	5.27	4.41	0.53225	.	0.453160	0.20852	N	0.084507	T	0.37812	0.1017	L	0.50333	1.59	0.28771	N	0.900365	P;P;P	0.46220	0.828;0.809;0.874	B;B;P	0.47206	0.347;0.397;0.541	T	0.34079	-0.9843	10	0.66056	D	0.02	-6.6299	8.0881	0.30784	0.1565:0.7604:0.0:0.0831	.	358;558;559	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	Y	559;559;558;358	ENSP00000349824:S559Y;ENSP00000306033:S558Y;ENSP00000369404:S358Y	ENSP00000306033:S558Y	S	+	2	0	REPS2	17063318	1.000000	0.71417	0.977000	0.42913	0.855000	0.48748	3.430000	0.52807	1.112000	0.41740	0.600000	0.82982	TCT		0.423	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		99	181	1	0	3.11363e-52	1	4.52285e-52	99	181				
AIM1	202	broad.mit.edu	37	6	106968877	106968877	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:106968877C>A	ENST00000369066.3	+	2	3057	c.2570C>A	c.(2569-2571)aCt>aAt	p.T857N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCAGTCAACACTATGACCACG	0.443																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2569-2571)aCt>aAt		absent in melanoma 1							74.0	76.0	75.0					6																	106968877		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968877C>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2570C>A	6.37:g.106968877C>A	ENSP00000358062:p.Thr857Asn						p.T857N	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3057	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	857					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2570C>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248277	0.22880	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.74209	-0.82	5.99	4.17	0.49024	.	1.054960	0.07294	N	0.873022	T	0.50531	0.1621	L	0.52573	1.65	0.25118	N	0.990664	B	0.26876	0.162	B	0.17979	0.02	T	0.45116	-0.9283	10	0.28530	T	0.3	.	11.6951	0.51538	0.1329:0.5225:0.3446:0.0	.	857	Q9Y4K1	AIM1_HUMAN	N	1265;857	ENSP00000358062:T857N	ENSP00000285105:T1265N	T	+	2	0	AIM1	107075570	0.124000	0.22315	0.021000	0.16686	0.982000	0.71751	1.112000	0.31172	0.818000	0.34468	0.655000	0.94253	ACT		0.443	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			31	56	1	0	5.45727e-16	1	7.22369e-16	31	56				
CYP20A1	57404	broad.mit.edu	37	2	204154520	204154520	+	Missense_Mutation	SNP	G	G	A	rs201088277		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:204154520G>A	ENST00000356079.4	+	10	1127	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R343Q	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	335						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAACTGTTCGAACTGCCAAA	0.323																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(1003-1005)cGa>cAa		cytochrome P450, family 20, subfamily A, polypeptide 1							66.0	64.0	65.0					2																	204154520		2203	4300	6503	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204154520G>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1004G>A	2.37:g.204154520G>A	ENSP00000348380:p.Arg335Gln					CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R343Q	p.R335Q	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			10	1127	+			335					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.1004G>A	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132066	0.94473	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	D;D	0.97480	-4.4;-4.4	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.85197	2.74	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.986	D	0.99501	1.0953	10	0.87932	D	0	-12.4289	19.6715	0.95914	0.0:0.0:1.0:0.0	.	343;335	E9PHG5;Q6UW02	.;CP20A_HUMAN	Q	335;308;343	ENSP00000348380:R335Q;ENSP00000407860:R343Q	ENSP00000348380:R335Q	R	+	2	0	CYP20A1	203862765	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.055000	0.89453	2.667000	0.90743	0.580000	0.79431	CGA		0.323	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		23	26	0	0	0	1	0	23	26				
ANXA10	11199	broad.mit.edu	37	4	169086427	169086427	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169086427T>C	ENST00000359299.3	+	6	616	c.430T>C	c.(430-432)Tat>Cat	p.Y144H		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	144						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGAGGACATTTATTCAGAGAC	0.333																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(430-432)Tat>Cat		annexin A10							78.0	81.0	80.0					4																	169086427		2203	4299	6502	SO:0001583	missense	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169086427T>C	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.430T>C	4.37:g.169086427T>C	ENSP00000352248:p.Tyr144His						p.Y144H	NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	6	616	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	144					Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	c.430T>C	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	T	9.017	0.984025	0.18889	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03242	4.0	5.71	5.71	0.89125	Annexin repeat, conserved site (1);	0.521289	0.20187	N	0.097396	T	0.03434	0.0099	N	0.04880	-0.145	0.39286	D	0.964641	P;B	0.43094	0.799;0.004	P;B	0.45428	0.48;0.012	T	0.66594	-0.5884	10	0.25751	T	0.34	.	14.9572	0.71124	0.0:0.0:0.0:1.0	.	16;144	Q6ITU8;Q9UJ72	.;ANX10_HUMAN	H	144	ENSP00000352248:Y144H	ENSP00000352248:Y144H	Y	+	1	0	ANXA10	169323002	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.739000	0.55075	2.180000	0.69256	0.528000	0.53228	TAT		0.333	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		13	24	0	0	0	1	0	13	24				
ERI1	90459	broad.mit.edu	37	8	8873895	8873895	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:8873895A>G	ENST00000523898.1	+	5	1241	c.562A>G	c.(562-564)Agt>Ggt	p.S188G	ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000519292.1_Missense_Mutation_p.S188G|ERI1_ENST00000250263.7_Missense_Mutation_p.S188G			Q8IV48	ERI1_HUMAN	exoribonuclease 1	188	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						TTTCTGCATCAGTCTAACTGG	0.318																																						ENST00000523898.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(562-564)Agt>Ggt		exoribonuclease 1	Adenosine monophosphate(DB00131)						148.0	146.0	147.0					8																	8873895		2203	4300	6503	SO:0001583	missense	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8873895A>G	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.562A>G	8.37:g.8873895A>G	ENSP00000429615:p.Ser188Gly					ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000519292.1_Missense_Mutation_p.S188G|ERI1_ENST00000250263.7_Missense_Mutation_p.S188G	p.S188G			Q8IV48	ERI1_HUMAN			5	1241	+			188			Exonuclease.		A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	c.562A>G	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	A	8.949	0.967800	0.18659	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.23147	1.92;1.92;1.92	5.67	4.52	0.55395	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.634272	0.18257	N	0.146762	T	0.15782	0.0380	N	0.20445	0.575	0.09310	N	0.99999	B	0.02656	0.0	B	0.06405	0.002	T	0.19418	-1.0306	10	0.29301	T	0.29	-13.0655	9.038	0.36300	0.8438:0.0:0.1562:0.0	.	188	Q8IV48	ERI1_HUMAN	G	188	ENSP00000429615:S188G;ENSP00000250263:S188G;ENSP00000430190:S188G	ENSP00000250263:S188G	S	+	1	0	ERI1	8911305	0.130000	0.22417	0.986000	0.45419	0.554000	0.35429	1.750000	0.38329	0.990000	0.38787	0.460000	0.39030	AGT		0.318	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		22	41	0	0	0	1	0	22	41				
SLTM	79811	broad.mit.edu	37	15	59179667	59179667	+	Silent	SNP	G	G	A	rs148004381	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:59179667G>A	ENST00000380516.2	-	18	2535	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Silent_p.F385F	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	816	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATATCTTTCGAAGCTTGGAT	0.448													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20043	0.0		0.0	False		,,,				2504	0.0					ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2446-2448)ttC>ttT		SAFB-like, transcription modulator		G	,	4,4380	8.1+/-20.4	0,4,2188	171.0	155.0	161.0		2394,2448	2.1	1.0	15	dbSNP_134	161	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous	SLTM	NM_001013843.1,NM_024755.2	,	0,4,6480	AA,AG,GG		0.0,0.0912,0.0308	,	798/1017,816/1035	59179667	4,12964	2192	4292	6484	SO:0001819	synonymous_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179667G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2448C>T	15.37:g.59179667G>A						SLTM_ENST00000536328.1_Silent_p.F385F	p.F816F	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			18	2535	-			816			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	c.2448C>T	CCDS10168.2																																																																																				0.448	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		20	41	0	0	0	1	0	20	41				
NCBP2L	392517	broad.mit.edu	37	X	107018442	107018442	+	5'Flank	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107018442G>A	ENST00000509000.2	+	0	0				TSC22D3_ENST00000514426.1_Missense_Mutation_p.R2W|TSC22D3_ENST00000372383.4_Missense_Mutation_p.R70W|TSC22D3_ENST00000506081.1_Missense_Mutation_p.R70W|TSC22D3_ENST00000315660.4_Missense_Mutation_p.R70W|TSC22D3_ENST00000372384.2_Missense_Mutation_p.R70W			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						GAATCCTGCCGCATTATGCTG	0.562																																						ENST00000372383.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(208-210)Cgg>Tgg		TSC22 domain family, member 3							130.0	99.0	109.0					X																	107018442		2203	4300	6503	SO:0001631	upstream_gene_variant	1831						sequence-specific DNA binding transcription factor activity	g.chrX:107018442G>A			Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018442G>A	Exception_encountered					TSC22D3_ENST00000315660.4_Missense_Mutation_p.R70W|TSC22D3_ENST00000506081.1_Missense_Mutation_p.R70W|TSC22D3_ENST00000372384.2_Missense_Mutation_p.R70W|TSC22D3_ENST00000514426.1_Missense_Mutation_p.R2W	p.R70W	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN			1	575	-			0						Missense_Mutation	SNP	ENST00000509000.2	37	c.208C>T		.	.	.	.	.	.	.	.	.	.	G	17.94	3.512425	0.64522	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000506081;ENST00000514426;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724;ENST00000505965	.	.	.	5.22	3.41	0.39046	.	0.301954	0.38326	N	0.001727	T	0.53286	0.1787	N	0.14661	0.345	0.45979	D	0.998799	D	0.89917	1.0	D	0.80764	0.994	T	0.55903	-0.8067	9	0.66056	D	0.02	-16.8342	10.8647	0.46847	0.0:0.0:0.5048:0.4952	.	70	Q99576-3	.	W	70;70;70;70;2;70;70;70;70;70;70	.	ENSP00000314655:R70W	R	-	1	2	TSC22D3	106905098	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.017000	0.49615	0.490000	0.27771	-0.205000	0.12727	CGG		0.562	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362		43	59	0	0	0	1	0	43	59				
RBMX	27316	broad.mit.edu	37	X	135961190	135961190	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135961190C>A	ENST00000320676.7	-	3	356	c.202G>T	c.(202-204)Gac>Tac	p.D68Y	SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000562646.1_Missense_Mutation_p.D68Y|RBMX_ENST00000431446.3_Missense_Mutation_p.D68Y	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	68	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCATTCATGTCTCTGGCTGCA	0.413																																						ENST00000562646.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(202-204)Gac>Tac		RNA binding motif protein, X-linked							163.0	134.0	144.0					X																	135961190		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961190C>A		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.202G>T	X.37:g.135961190C>A	ENSP00000359645:p.Asp68Tyr					RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000320676.7_Missense_Mutation_p.D68Y|RBMX_ENST00000431446.3_Missense_Mutation_p.D68Y|RBMX_ENST00000565438.1_Intron	p.D68Y			P38159	HNRPG_HUMAN			3	356	-	Acute lymphoblastic leukemia(192;0.000127)		68			RRM.		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.202G>T	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.172103	0.78452	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	T;T	0.16597	2.33;2.33	4.47	4.47	0.54385	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.064955	0.64402	U	0.000010	T	0.25827	0.0629	N	0.16016	0.355	0.80722	D	1	D;P;D	0.69078	0.997;0.625;0.971	D;P;P	0.70227	0.968;0.585;0.817	T	0.24333	-1.0163	10	0.87932	D	0	.	16.502	0.84260	0.0:1.0:0.0:0.0	.	68;68;55	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	Y	68;68;55	ENSP00000411989:D68Y;ENSP00000359645:D68Y	ENSP00000359645:D68Y	D	-	1	0	RBMX	135788856	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.762000	0.85270	1.802000	0.52723	0.508000	0.49915	GAC		0.413	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		34	75	1	0	4.34311e-12	1	5.44389e-12	34	75				
ABCB4	5244	broad.mit.edu	37	7	87043015	87043015	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87043015C>T	ENST00000265723.4	-	22	2812	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	ABCB4_ENST00000453593.1_Missense_Mutation_p.E901K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E901K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E901K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E901K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	901	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E901K(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTAATATTTTCTATTGCCTCT	0.343																																						ENST00000265723.4																			1	Substitution - Missense(1)	p.E901K(1)	endometrium(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2701-2703)Gaa>Aaa		ATP-binding cassette, sub-family B (MDR/TAP), member 4							116.0	123.0	121.0					7																	87043015		2203	4298	6501	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87043015C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2701G>A	7.37:g.87043015C>T	ENSP00000265723:p.Glu901Lys					ABCB4_ENST00000453593.1_Missense_Mutation_p.E901K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E901K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E901K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E901K	p.E901K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			22	2812	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		901			ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2701G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605914	0.87157	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	5.56	5.56	0.83823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.160109	0.53938	D	0.000045	D	0.93979	0.8072	M	0.78916	2.43	0.80722	D	1	P;P;P	0.49559	0.465;0.908;0.925	B;P;P	0.59424	0.35;0.777;0.857	D	0.93553	0.6888	10	0.54805	T	0.06	-23.3456	19.9019	0.96988	0.0:1.0:0.0:0.0	.	901;901;901	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	901	ENSP00000352135:E901K;ENSP00000351172:E901K;ENSP00000265723:E901K;ENSP00000392983:E901K;ENSP00000437465:E901K	ENSP00000265723:E901K	E	-	1	0	ABCB4	86880951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.946000	0.70234	2.781000	0.95711	0.650000	0.86243	GAA		0.343	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		20	39	0	0	0	1	0	20	39				
ZNF197	10168	broad.mit.edu	37	3	44685303	44685303	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44685303G>T	ENST00000396058.1	+	5	2848	c.2681G>T	c.(2680-2682)aGa>aTa	p.R894I	ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.R894I|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	894					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GTACATCAAAGAATCCATACT	0.358																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(2680-2682)aGa>aTa		zinc finger protein 197							83.0	92.0	89.0					3																	44685303		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44685303G>T	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2681G>T	3.37:g.44685303G>T	ENSP00000379370:p.Arg894Ile					ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.R894I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron	p.R894I			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	2848	+			894					B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.2681G>T	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117202	0.37339	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.02446	4.29;4.29	3.3	3.3	0.37823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34067	U	0.004282	T	0.10121	0.0248	M	0.68728	2.09	0.27634	N	0.947923	D	0.89917	1.0	D	0.97110	1.0	T	0.01570	-1.1322	10	0.62326	D	0.03	.	6.2777	0.20989	0.0:0.2016:0.5911:0.2074	.	894	O14709	ZN197_HUMAN	I	894	ENSP00000345809:R894I;ENSP00000379370:R894I	ENSP00000345809:R894I	R	+	2	0	ZNF197	44660307	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.107000	0.15375	2.140000	0.66376	0.557000	0.71058	AGA		0.358	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		36	62	1	0	4.62619e-21	1	6.37263e-21	36	62				
UACA	55075	broad.mit.edu	37	15	70960671	70960671	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:70960671T>A	ENST00000322954.6	-	16	2537	c.2352A>T	c.(2350-2352)aaA>aaT	p.K784N	UACA_ENST00000539319.1_Missense_Mutation_p.K675N|UACA_ENST00000560441.1_Missense_Mutation_p.K769N|UACA_ENST00000379983.2_Missense_Mutation_p.K771N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	784					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CCAGTAGCAATTTCTCCATTT	0.328																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2350-2352)aaA>aaT		uveal autoantigen with coiled-coil domains and ankyrin repeats							65.0	65.0	65.0					15																	70960671		2199	4295	6494	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960671T>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2352A>T	15.37:g.70960671T>A	ENSP00000314556:p.Lys784Asn					UACA_ENST00000539319.1_Missense_Mutation_p.K675N|UACA_ENST00000560441.1_Missense_Mutation_p.K769N|UACA_ENST00000379983.2_Missense_Mutation_p.K771N	p.K784N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	2537	-			784					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2352A>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.285688	0.23478	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.36878	1.23;1.24;1.71	5.55	0.178	0.15058	.	0.413145	0.22766	N	0.055896	T	0.30978	0.0782	L	0.50333	1.59	0.29812	N	0.831566	P;P;P;P	0.45348	0.835;0.611;0.856;0.731	P;B;B;B	0.45406	0.479;0.357;0.411;0.302	T	0.25641	-1.0126	10	0.72032	D	0.01	-30.6966	4.5073	0.11894	0.2101:0.2975:0.0:0.4925	.	675;784;784;771	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	N	784;771;675	ENSP00000314556:K784N;ENSP00000369319:K771N;ENSP00000438667:K675N	ENSP00000314556:K784N	K	-	3	2	UACA	68747725	0.009000	0.17119	0.552000	0.28243	0.193000	0.23685	-0.060000	0.11712	0.124000	0.18369	0.533000	0.62120	AAA		0.328	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			7	21	0	0	0	1	0	7	21				
TOX	9760	broad.mit.edu	37	8	59764207	59764207	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:59764207T>C	ENST00000361421.1	-	4	789	c.569A>G	c.(568-570)cAa>cGa	p.Q190R		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	190						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CAAACCAAGTTGAGCACTTAG	0.522																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(568-570)cAa>cGa		thymocyte selection-associated high mobility group box							146.0	120.0	129.0					8																	59764207		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59764207T>C		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.569A>G	8.37:g.59764207T>C	ENSP00000354842:p.Gln190Arg						p.Q190R	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			4	789	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	190					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.569A>G	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.726563	0.69074	.	.	ENSG00000198846	ENST00000361421	T	0.22134	1.97	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	M	0.75085	2.285	0.43965	D	0.99664	P	0.49185	0.92	B	0.44224	0.444	T	0.09487	-1.0672	9	.	.	.	.	16.1852	0.81946	0.0:0.0:0.0:1.0	.	190	O94900	TOX_HUMAN	R	190	ENSP00000354842:Q190R	.	Q	-	2	0	TOX	59926761	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	4.179000	0.58290	2.223000	0.72356	0.454000	0.30748	CAA		0.522	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		13	27	0	0	0	1	0	13	27				
RFWD2	64326	broad.mit.edu	37	1	176132020	176132020	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176132020C>A	ENST00000367669.3	-	5	1261	c.747G>T	c.(745-747)aaG>aaT	p.K249N	RFWD2_ENST00000308769.8_Missense_Mutation_p.K245N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	249					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAGTTGTTTCTTCTTCTGCA	0.338																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(745-747)aaG>aaT		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							87.0	88.0	88.0					1																	176132020		2203	4300	6503	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176132020C>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.747G>T	1.37:g.176132020C>A	ENSP00000356641:p.Lys249Asn					RFWD2_ENST00000308769.8_Missense_Mutation_p.K245N	p.K249N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			5	1261	-			249					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.747G>T	CCDS30944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.598138|3.598138	0.66332|0.66332	.|.	.|.	ENSG00000143207|ENSG00000143207	ENST00000436424|ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306	.|T;T;T;T	.|0.19105	.|2.17;2.17;2.17;2.17	5.45|5.45	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.41143	.|0.1146	M|M	0.73962|0.73962	2.25|2.25	0.53688|0.53688	D|D	0.999976|0.999976	.|D;D;P	.|0.65815	.|0.995;0.981;0.851	.|D;D;P	.|0.67231	.|0.919;0.95;0.775	.|T	.|0.29243	.|-1.0018	.|10	.|0.62326	.|D	.|0.03	.|-12.8016	8.9855|8.9855	0.35992|0.35992	0.0:0.7062:0.0:0.2938|0.0:0.7062:0.0:0.2938	.|.	.|245;249;249	.|Q8NHY2-2;Q8NHY2;Q504W6	.|.;RFWD2_HUMAN;.	.|N	-1|249;104;245;108	.|ENSP00000356641:K249N;ENSP00000356638:K104N;ENSP00000310943:K245N;ENSP00000433810:K108N	.|ENSP00000310943:K245N	.|K	-|-	.|3	.|2	RFWD2|RFWD2	174398643|174398643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.302000|1.302000	0.33459|0.33459	1.268000|1.268000	0.44264|0.44264	0.585000|0.585000	0.79938|0.79938	.|AAG		0.338	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		11	21	1	0	0.000673444	1	0.000709932	11	21				
COBL	23242	broad.mit.edu	37	7	51111094	51111094	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:51111094C>A	ENST00000265136.7	-	8	1557	c.1392G>T	c.(1390-1392)gaG>gaT	p.E464D	COBL_ENST00000395542.2_Missense_Mutation_p.E546D	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	464					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GATGTGAGTTCTCAGAGCCAT	0.562																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1636-1638)gaG>gaT		cordon-bleu WH2 repeat protein							77.0	75.0	76.0					7																	51111094		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51111094C>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1392G>T	7.37:g.51111094C>A	ENSP00000265136:p.Glu464Asp					COBL_ENST00000265136.7_Missense_Mutation_p.E464D	p.E546D			O75128	COBL_HUMAN			10	1822	-	Glioma(55;0.08)		464					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.1638G>T	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.786|5.786	0.329322|0.329322	0.10956|0.10956	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542|ENST00000452534	T;T;T;T|.	0.21734|.	1.99;1.99;1.99;1.99|.	5.5|5.5	-0.728|-0.728	0.11162|0.11162	.|.	1.000060|1.000060	0.08071|0.08071	N|N	0.999889|0.999889	T|.	0.15089|.	0.0364|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;P;B;B|.	0.36249|.	0.545;0.545;0.151;0.344|.	B;B;B;B|.	0.29077|.	0.098;0.098;0.028;0.097|.	T|.	0.26503|.	-1.0101|.	10|.	0.17369|0.16896	T|T	0.5|0.51	.|.	4.9947|4.9947	0.14233|0.14233	0.0:0.4138:0.1485:0.4376|0.0:0.4138:0.1485:0.4376	.|.	464;521;464;546|.	O75128-3;O75128-7;O75128;O75128-2|.	.;.;COBL_HUMAN;.|.	D|X	464;356;349;546|440	ENSP00000265136:E464D;ENSP00000401204:E356D;ENSP00000413498:E349D;ENSP00000378912:E546D|.	ENSP00000265136:E464D|ENSP00000405059:E440X	E|E	-|-	3|1	2|0	COBL|COBL	51078588|51078588	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.738000|-0.738000	0.04871|0.04871	-0.358000|-0.358000	0.08162|0.08162	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.562	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		7	64	1	0	0.00198382	1	0.00207034	7	64				
TMEM57	55219	broad.mit.edu	37	1	25783143	25783143	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:25783143G>A	ENST00000374343.4	+	5	652		c.e5-1		TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_Intron|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57						brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTTTCTAGTATTGGGTAC	0.363																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.e5-1		transmembrane protein 57							48.0	47.0	48.0					1																	25783143		2203	4300	6503	SO:0001630	splice_region_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25783143G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.474-1G>A	1.37:g.25783143G>A						TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_Intron|TMEM57_ENST00000399763.3_Intron		NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	5	652	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)						B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Splice_Site	SNP	ENST00000374343.4	37		CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574062	0.86542	.	.	ENSG00000204178	ENST00000374343	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9314	0.92568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM57	25655730	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.467000	0.97671	2.690000	0.91761	0.557000	0.71058	.		0.363	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	Intron	11	35	0	0	0	1	0	11	35				
MORF4L2	9643	broad.mit.edu	37	X	102931709	102931709	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102931709G>T	ENST00000441076.2	-	4	551	c.247C>A	c.(247-249)Cct>Act	p.P83T	MORF4L2_ENST00000360458.1_Missense_Mutation_p.P83T|MORF4L2_ENST00000433176.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000423833.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000451301.1_Missense_Mutation_p.P83T|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000422154.2_Missense_Mutation_p.P83T	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	83					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CCGTTTCCAGGAGTCTTCTGC	0.562																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(247-249)Cct>Act		mortality factor 4 like 2							71.0	63.0	66.0					X																	102931709		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931709G>T	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.247C>A	X.37:g.102931709G>T	ENSP00000391969:p.Pro83Thr					MORF4L2_ENST00000360458.1_Missense_Mutation_p.P83T|MORF4L2_ENST00000433176.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000441076.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000422154.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000451301.1_Missense_Mutation_p.P83T	p.P83T			Q15014	MO4L2_HUMAN			3	1472	-			83					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.247C>A	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334325	0.41297	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	4.38	4.38	0.52667	.	0.051413	0.85682	D	0.000000	T	0.19327	0.0464	N	0.24115	0.695	0.58432	D	0.999992	P	0.36753	0.568	B	0.34093	0.175	T	0.05209	-1.0899	10	0.19590	T	0.45	-13.2132	13.8046	0.63223	0.0:0.0:1.0:0.0	.	83	Q15014	MO4L2_HUMAN	T	83;83;83;83;65;83;83;83;83;83	ENSP00000353643:P83T;ENSP00000415476:P83T;ENSP00000394417:P83T;ENSP00000410532:P83T;ENSP00000391969:P83T;ENSP00000416120:P83T	ENSP00000353643:P83T	P	-	1	0	MORF4L2	102818365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.464000	0.73534	2.429000	0.82318	0.600000	0.82982	CCT		0.562	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		43	80	1	0	1.34996e-11	1	1.68274e-11	43	80				
RTN4IP1	84816	broad.mit.edu	37	6	107019892	107019892	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:107019892C>A	ENST00000369063.3	-	9	1635	c.1170G>T	c.(1168-1170)aaG>aaT	p.K390N	RTN4IP1_ENST00000539449.1_3'UTR|RTN4IP1_ENST00000498091.1_5'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	390						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TAATTACAGTCTTTCCTCGTG	0.388																																						ENST00000369063.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(1168-1170)aaG>aaT		reticulon 4 interacting protein 1							124.0	119.0	121.0					6																	107019892		2203	4300	6503	SO:0001583	missense	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107019892C>A	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.1170G>T	6.37:g.107019892C>A	ENSP00000358059:p.Lys390Asn					RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR	p.K390N	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	9	1635	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	390					Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	c.1170G>T	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112726	0.77210	.	.	ENSG00000130347	ENST00000369063	T	0.59906	0.23	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79172	-0.1913	10	0.87932	D	0	-23.1064	9.3737	0.38270	0.0:0.8822:0.0:0.1178	.	390	Q8WWV3	RT4I1_HUMAN	N	390	ENSP00000358059:K390N	ENSP00000358059:K390N	K	-	3	2	RTN4IP1	107126585	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.969000	0.56816	2.857000	0.98124	0.650000	0.86243	AAG		0.388	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			21	43	1	0	1.00905e-13	1	1.29777e-13	21	43				
RPGRIP1	57096	broad.mit.edu	37	14	21795831	21795831	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21795831A>C	ENST00000400017.2	+	17	2760	c.2760A>C	c.(2758-2760)caA>caC	p.Q920H	RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q279H|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.Q920H|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q577H|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q882H|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q246H	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	920					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.Q920H(1)|p.Q536H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GATCTATTCAAGTGCAACTGG	0.428																																						ENST00000206660.6																			2	Substitution - Missense(2)	p.Q920H(1)|p.Q536H(1)	lung(2)	breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2758-2760)caA>caC		retinitis pigmentosa GTPase regulator interacting protein 1							87.0	82.0	84.0					14																	21795831		1843	4104	5947	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21795831A>C	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2760A>C	14.37:g.21795831A>C	ENSP00000382895:p.Gln920His					RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q882H|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q577H|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q279H|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q920H|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q246H	p.Q920H			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	17	2760	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	920					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2760A>C	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	A	6.290	0.421555	0.11928	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	T;D;D;D;T;D;D	0.87887	-0.1;-2.31;-2.31;-2.31;-0.43;-2.31;-2.31	4.58	1.41	0.22369	.	0.413302	0.27176	N	0.020573	T	0.81650	0.4867	N	0.24115	0.695	0.09310	N	1	P;D;P;D;P;P	0.64830	0.875;0.966;0.875;0.994;0.875;0.883	P;P;P;P;P;B	0.62560	0.646;0.807;0.667;0.904;0.667;0.444	T	0.70831	-0.4765	10	0.10636	T	0.68	-6.815	3.5157	0.07723	0.3983:0.2162:0.3854:0.0	.	303;279;395;246;536;920	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;.;.;RPGR1_HUMAN	H	577;882;920;920;246;395;279	ENSP00000450445:Q577H;ENSP00000451219:Q882H;ENSP00000382895:Q920H;ENSP00000206660:Q920H;ENSP00000372391:Q246H;ENSP00000451262:Q395H;ENSP00000309721:Q279H	ENSP00000206660:Q920H	Q	+	3	2	RPGRIP1	20865671	0.076000	0.21285	0.375000	0.26029	0.873000	0.50193	-0.096000	0.11059	0.515000	0.28320	0.528000	0.53228	CAA		0.428	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		27	34	0	0	0	1	0	27	34				
APPBP2	10513	broad.mit.edu	37	17	58525055	58525055	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58525055G>A	ENST00000083182.3	-	13	1932	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	549					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GAATATTGCCGATCTCGCAAC	0.443																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(1645-1647)Cgg>Tgg		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							195.0	191.0	193.0					17																	58525055		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58525055G>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1645C>T	17.37:g.58525055G>A	ENSP00000083182:p.Arg549Trp						p.R549W	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		13	1932	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		549					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.1645C>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829843	0.71258	.	.	ENSG00000062725	ENST00000083182	D	0.83837	-1.77	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88698	0.6507	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	D	0.88881	0.3339	10	0.72032	D	0.01	-8.5633	20.0203	0.97492	0.0:0.0:1.0:0.0	.	549	Q92624	APBP2_HUMAN	W	549	ENSP00000083182:R549W	ENSP00000083182:R549W	R	-	1	2	APPBP2	55879837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.278000	0.78587	2.730000	0.93505	0.655000	0.94253	CGG		0.443	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		53	119	0	0	0	1	0	53	119				
LIPJ	142910	broad.mit.edu	37	10	90356597	90356597	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:90356597C>T	ENST00000371939.3	+	8	941	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	209					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTAAAAAATTCATTGGTTCAA	0.308																																						ENST00000371939.3																			0				large_intestine(4)|lung(4)|ovary(1)	9						c.(625-627)ttC>ttT		lipase, family member J							73.0	86.0	81.0					10																	90356597		2202	4295	6497	SO:0001819	synonymous_variant	142910				lipid catabolic process		hydrolase activity	g.chr10:90356597C>T	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.627C>T	10.37:g.90356597C>T							p.F209F	NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	8	941	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	209					A8MT98|Q0P671	Silent	SNP	ENST00000371939.3	37	c.627C>T	CCDS31240.1																																																																																				0.308	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		14	46	0	0	0	1	0	14	46				
ADAMTS16	170690	broad.mit.edu	37	5	5146327	5146327	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:5146327G>T	ENST00000274181.7	+	3	398	c.260G>T	c.(259-261)aGa>aTa	p.R87I	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R87I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	87					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGGCGGAGAAGAGCAGTGCCC	0.542																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(259-261)aGa>aTa		ADAM metallopeptidase with thrombospondin type 1 motif, 16							63.0	63.0	63.0					5																	5146327		2040	4187	6227	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146327G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.260G>T	5.37:g.5146327G>T	ENSP00000274181:p.Arg87Ile					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R87I|CTD-2297D10.1_ENST00000514848.1_RNA	p.R87I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			3	398	+			87					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.260G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298170	0.60195	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.06768	3.26;3.26	5.55	5.55	0.83447	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	M	0.90425	3.115	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.998	T	0.40346	-0.9568	10	0.87932	D	0	.	18.6279	0.91347	0.0:0.0:1.0:0.0	.	87;87;87	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	87	ENSP00000274181:R87I;ENSP00000421631:R87I	ENSP00000274181:R87I	R	+	2	0	ADAMTS16	5199327	1.000000	0.71417	0.008000	0.14137	0.048000	0.14542	5.772000	0.68889	2.767000	0.95098	0.563000	0.77884	AGA		0.542	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		18	52	1	0	7.07596e-05	1	7.68259e-05	18	52				
ANO3	63982	broad.mit.edu	37	11	26655846	26655846	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:26655846G>A	ENST00000256737.3	+	19	2821	c.1969G>A	c.(1969-1971)Gct>Act	p.A657T	ANO3_ENST00000525139.1_Missense_Mutation_p.A641T|ANO3_ENST00000537978.1_Missense_Mutation_p.A641T|ANO3_ENST00000531568.1_Missense_Mutation_p.A511T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	657					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTTCTATATCGCTTTCTTTTT	0.358																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1969-1971)Gct>Act		anoctamin 3							98.0	86.0	90.0					11																	26655846		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26655846G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1969G>A	11.37:g.26655846G>A	ENSP00000256737:p.Ala657Thr					ANO3_ENST00000537978.1_Missense_Mutation_p.A641T|ANO3_ENST00000531568.1_Missense_Mutation_p.A511T|ANO3_ENST00000525139.1_Missense_Mutation_p.A641T	p.A657T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			19	2821	+			657					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1969G>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648846	0.87958	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88666	0.3192	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	559;657	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	641;641;657;559;511	ENSP00000440737:A641T;ENSP00000432576:A641T;ENSP00000256737:A657T;ENSP00000432394:A511T	ENSP00000256737:A657T	A	+	1	0	ANO3	26612422	1.000000	0.71417	0.999000	0.59377	0.369000	0.29798	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.358	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		11	24	0	0	0	1	0	11	24				
CDC27	996	broad.mit.edu	37	17	45249313	45249313	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45249313A>G	ENST00000066544.3	-	3	314	c.221T>C	c.(220-222)cTg>cCg	p.L74P	CDC27_ENST00000446365.2_Intron|CDC27_ENST00000531206.1_Missense_Mutation_p.L74P|CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Missense_Mutation_p.L74P	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	74					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTTTGCAAGCAGGTATTTGCA	0.338																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(220-222)cTg>cCg		cell division cycle 27							40.0	40.0	40.0					17																	45249313		2202	4300	6502	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45249313A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.221T>C	17.37:g.45249313A>G	ENSP00000066544:p.Leu74Pro					CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.L74P|CDC27_ENST00000527547.1_Missense_Mutation_p.L74P|CDC27_ENST00000446365.2_Intron	p.L74P	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			3	314	-			74					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.221T>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621352	0.87460	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000527547;ENST00000526866	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87509	0.6195	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89569	0.3812	10	0.87932	D	0	-19.8763	13.8831	0.63693	1.0:0.0:0.0:0.0	.	74;74;74	G5EA36;G3V1C4;P30260	.;.;CDC27_HUMAN	P	74	ENSP00000066544:L74P;ENSP00000434614:L74P;ENSP00000437339:L74P;ENSP00000432105:L74P	ENSP00000066544:L74P	L	-	2	0	CDC27	42604312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.057000	0.93889	2.173000	0.68751	0.482000	0.46254	CTG		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			4	29	0	0	0	1	0	4	29				
SLC24A5	283652	broad.mit.edu	37	15	48434526	48434526	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48434526A>C	ENST00000341459.3	+	9	1554	c.1481A>C	c.(1480-1482)aAa>aCa	p.K494T	SLC24A5_ENST00000449382.2_Missense_Mutation_p.K434T|MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	494					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGAAATAATAAAATAAGGGGC	0.348																																						ENST00000341459.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1480-1482)aAa>aCa		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							40.0	43.0	42.0					15																	48434526		2198	4294	6492	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48434526A>C	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1481A>C	15.37:g.48434526A>C	ENSP00000341550:p.Lys494Thr					SLC24A5_ENST00000449382.2_Missense_Mutation_p.K434T|MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR	p.K494T	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	9	1554	+		all_lung(180;0.00217)	494					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.1481A>C	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664569	0.29604	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.75050	-0.9;-0.88	5.65	3.36	0.38483	.	0.371804	0.33075	N	0.005316	T	0.51787	0.1695	N	0.22421	0.69	0.80722	D	1	P;B	0.34462	0.454;0.201	B;B	0.24541	0.054;0.054	T	0.48670	-0.9015	10	0.37606	T	0.19	.	5.4176	0.16382	0.5359:0.2901:0.174:0.0	.	434;494	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	T	494;434	ENSP00000341550:K494T;ENSP00000389966:K434T	ENSP00000341550:K494T	K	+	2	0	SLC24A5	46221818	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.345000	0.52182	1.081000	0.41110	0.528000	0.53228	AAA		0.348	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		5	29	0	0	0	1	0	5	29				
TUSC3	7991	broad.mit.edu	37	8	15508212	15508212	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:15508212T>G	ENST00000503731.1	+	3	463	c.315T>G	c.(313-315)gcT>gcG	p.A105A	TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000506802.1_Silent_p.A105A|TUSC3_ENST00000509380.1_Silent_p.A105A|TUSC3_ENST00000382020.4_Silent_p.A105A	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	105	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TCAGGCAAGCTAATGAAGAAT	0.423																																						ENST00000382020.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(313-315)gcT>gcG		tumor suppressor candidate 3							197.0	190.0	192.0					8																	15508212		2203	4300	6503	SO:0001819	synonymous_variant	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15508212T>G	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.315T>G	8.37:g.15508212T>G						TUSC3_ENST00000509380.1_Silent_p.A105A|TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000506802.1_Silent_p.A105A|TUSC3_ENST00000503731.1_Silent_p.A105A	p.A105A	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	3	523	+			105					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	ENST00000503731.1	37	c.315T>G	CCDS5994.1																																																																																				0.423	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		54	88	0	0	0	1	0	54	88				
DYSF	8291	broad.mit.edu	37	2	71801397	71801397	+	Missense_Mutation	SNP	G	G	A	rs144599077		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71801397G>A	ENST00000258104.3	+	30	3521	c.3244G>A	c.(3244-3246)Gag>Aag	p.E1082K	DYSF_ENST00000409762.1_Missense_Mutation_p.E1099K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1069K|DYSF_ENST00000409582.3_Missense_Mutation_p.E1099K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1113K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1100K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1114K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1083K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1082K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1100K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1083K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1082	Arg-rich.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTCCACCTCGAGTACCGCAA	0.662																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3244-3246)Gag>Aag		dysferlin							72.0	86.0	81.0					2																	71801397		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71801397G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3244G>A	2.37:g.71801397G>A	ENSP00000258104:p.Glu1082Lys					DYSF_ENST00000409582.3_Missense_Mutation_p.E1099K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1100K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1113K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1069K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1082K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1099K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1114K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1100K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1083K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1083K	p.E1082K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			30	3521	+			1082			Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3244G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	9.280	1.047876	0.19827	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.53;-1.54;-1.54;-1.54;-1.53;-1.53;-1.54;-1.54	5.6	4.71	0.59529	Ferlin/Peroxisome membrane (1);	0.131392	0.56097	D	0.000025	T	0.41351	0.1155	N	0.00661	-1.28	0.33375	D	0.574052	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31290	0.318;0.318;0.141;0.052;0.011;0.007;0.011;0.007;0.318;0.039;0.077;0.08;0.141;0.087	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.18561	0.022;0.022;0.022;0.014;0.009;0.002;0.009;0.006;0.022;0.004;0.014;0.022;0.022;0.01	T	0.59558	-0.7432	10	0.02654	T	1	-37.584	7.5925	0.28029	0.1754:0.0:0.8246:0.0	.	1114;1100;1083;1069;1100;1069;1099;1068;1113;1099;1082;1068;1083;1082	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	K	1113;1099;1099;1082;1082;1114;1083;1069;1083;1100;1100	ENSP00000407046:E1113K;ENSP00000387137:E1099K;ENSP00000386547:E1099K;ENSP00000398305:E1082K;ENSP00000258104:E1082K;ENSP00000386683:E1114K;ENSP00000377678:E1083K;ENSP00000386285:E1069K;ENSP00000386512:E1083K;ENSP00000386881:E1100K;ENSP00000386617:E1100K	ENSP00000258104:E1082K	E	+	1	0	DYSF	71654905	0.998000	0.40836	0.996000	0.52242	0.947000	0.59692	3.360000	0.52299	2.627000	0.88993	0.650000	0.86243	GAG		0.662	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		56	108	0	0	0	1	0	56	108				
LRP2	4036	broad.mit.edu	37	2	170135978	170135978	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170135978C>T	ENST00000263816.3	-	12	1754	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	LRP2_ENST00000443831.1_Missense_Mutation_p.R490H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	490					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATATCTATGCGGTTGACCTT	0.428																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1468-1470)cGc>cAc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						123.0	127.0	126.0					2																	170135978		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170135978C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1469G>A	2.37:g.170135978C>T	ENSP00000263816:p.Arg490His					LRP2_ENST00000443831.1_Missense_Mutation_p.R490H	p.R490H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	12	1754	-			490					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1469G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668255	0.88348	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94497	-3.44;-3.44	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.046609	0.85682	D	0.000000	D	0.97148	0.9068	M	0.78344	2.41	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.939	D	0.96734	0.9541	9	.	.	.	.	19.5773	0.95450	0.0:1.0:0.0:0.0	.	490;490	E9PC35;P98164	.;LRP2_HUMAN	H	490	ENSP00000263816:R490H;ENSP00000409813:R490H	.	R	-	2	0	LRP2	169844224	1.000000	0.71417	0.988000	0.46212	0.896000	0.52359	7.751000	0.85126	2.643000	0.89663	0.650000	0.86243	CGC		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		29	40	0	0	0	1	0	29	40				
HERC2	8924	broad.mit.edu	37	15	28414768	28414768	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:28414768C>A	ENST00000261609.7	-	66	10199	c.10091G>T	c.(10090-10092)aGt>aTt	p.S3364I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TATTTTATTACTGGCAGCAGA	0.373																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(10090-10092)aGt>aTt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							89.0	88.0	88.0					15																	28414768		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28414768C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10091G>T	15.37:g.28414768C>A	ENSP00000261609:p.Ser3364Ile						p.S3364I	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	66	10199	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3364						Missense_Mutation	SNP	ENST00000261609.7	37	c.10091G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722823	0.68959	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	5.76	2.89	0.33648	.	0.176849	0.64402	D	0.000012	T	0.36552	0.0971	L	0.50333	1.59	0.49483	D	0.999793	P	0.46395	0.877	B	0.41860	0.368	T	0.07616	-1.0763	10	0.35671	T	0.21	.	11.1188	0.48277	0.0:0.8005:0.0:0.1995	.	3364	O95714	HERC2_HUMAN	I	3364	ENSP00000261609:S3364I	ENSP00000261609:S3364I	S	-	2	0	HERC2	26088363	1.000000	0.71417	0.998000	0.56505	0.702000	0.40608	2.480000	0.45206	0.459000	0.27016	0.655000	0.94253	AGT		0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	80	1	0	5.4927e-09	1	6.54492e-09	8	80				
ALMS1	7840	broad.mit.edu	37	2	73679645	73679645	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73679645G>T	ENST00000264448.6	+	8	6099	c.5988G>T	c.(5986-5988)aaG>aaT	p.K1996N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K1954N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K1996N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1996	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAAACTCAAGATTTCAACTG	0.413																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(5986-5988)aaG>aaT		Alstrom syndrome 1							106.0	101.0	103.0					2																	73679645		1858	4096	5954	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73679645G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5988G>T	2.37:g.73679645G>T	ENSP00000264448:p.Lys1996Asn					ALMS1_ENST00000409009.1_Missense_Mutation_p.K1954N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K1996N	p.K1996N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	6099	+			1996			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.5988G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591101	0.46214	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.18016	3.14;3.14;2.24	4.35	2.53	0.30540	.	0.687100	0.13357	N	0.393913	T	0.31575	0.0801	L	0.57536	1.79	0.21802	N	0.999536	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.982;0.982	T	0.06391	-1.0829	10	0.48119	T	0.1	.	5.436	0.16482	0.1017:0.0:0.7006:0.1977	.	1996;1954;1996	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	N	1954;1996;1996	ENSP00000386627:K1954N;ENSP00000264448:K1996N;ENSP00000366944:K1996N	ENSP00000264448:K1996N	K	+	3	2	ALMS1	73533153	0.011000	0.17503	0.379000	0.26080	0.057000	0.15508	0.011000	0.13264	0.751000	0.32900	0.555000	0.69702	AAG		0.413	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		17	102	1	0	9.7654e-05	1	0.000105618	17	102				
VWCE	220001	broad.mit.edu	37	11	61026361	61026361	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:61026361G>T	ENST00000335613.5	-	20	3040	c.2654C>A	c.(2653-2655)tCc>tAc	p.S885Y	VWCE_ENST00000535710.1_Missense_Mutation_p.S350Y	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	885						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGCCACCTGGACACTATCTG	0.647																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2653-2655)tCc>tAc		von Willebrand factor C and EGF domains							35.0	39.0	38.0					11																	61026361		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026361G>T	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2654C>A	11.37:g.61026361G>T	ENSP00000334186:p.Ser885Tyr					VWCE_ENST00000535710.1_Missense_Mutation_p.S350Y	p.S885Y	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			20	3040	-			885					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2654C>A	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435048	0.43224	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.70164	-0.46;3.4	4.37	3.45	0.39498	.	0.391239	0.18958	N	0.126483	T	0.54727	0.1876	L	0.39898	1.24	0.09310	N	1	B	0.33299	0.407	B	0.33750	0.169	T	0.51228	-0.8732	10	0.59425	D	0.04	.	7.599	0.28065	0.1229:0.0:0.8771:0.0	.	885	Q96DN2	VWCE_HUMAN	Y	885;350	ENSP00000334186:S885Y;ENSP00000442570:S350Y	ENSP00000334186:S885Y	S	-	2	0	VWCE	60782937	0.065000	0.20965	0.006000	0.13384	0.003000	0.03518	2.974000	0.49272	0.923000	0.37045	0.561000	0.74099	TCC		0.647	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		20	27	1	0	4.96729e-08	1	5.79844e-08	20	27				
FAT1	2195	broad.mit.edu	37	4	187542357	187542357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187542357G>A	ENST00000441802.2	-	10	5592	c.5383C>T	c.(5383-5385)Cga>Tga	p.R1795*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1795	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGCTGCTCGAATCACCAGT	0.428										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5383-5385)Cga>Tga		FAT atypical cadherin 1							89.0	85.0	86.0					4																	187542357		1976	4165	6141	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542357G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5383C>T	4.37:g.187542357G>A	ENSP00000406229:p.Arg1795*	HNSCC(5;0.00058)					p.R1795*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5592	-			1795			Cadherin 16.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.5383C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	43	10.275781	0.99373	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.5	4.66	0.58398	.	0.122272	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	11.5588	0.50764	0.0:0.135:0.7245:0.1405	.	.	.	.	X	1795;1797	.	ENSP00000260147:R1797X	R	-	1	2	FAT1	187779351	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	5.448000	0.66612	1.556000	0.49512	-0.150000	0.13652	CGA		0.428	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	23	0	0	0	1	0	14	23				
ZNF286A	57335	broad.mit.edu	37	17	15620126	15620126	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15620126T>G	ENST00000464847.2	+	5	1641	c.1088T>G	c.(1087-1089)tTt>tGt	p.F363C	ZNF286A_ENST00000593105.1_Missense_Mutation_p.F353C|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.F363C|ZNF286A_ENST00000413242.2_Missense_Mutation_p.F363C|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.F363C			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GATAAAGCTTTTATTCATTCA	0.368																																						ENST00000464847.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1087-1089)tTt>tGt		zinc finger protein 286A							59.0	49.0	52.0					17																	15620126		2202	4297	6499	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15620126T>G	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1088T>G	17.37:g.15620126T>G	ENSP00000464218:p.Phe363Cys					ZNF286A_ENST00000583566.1_Missense_Mutation_p.F363C|ZNF286A_ENST00000593105.1_Missense_Mutation_p.F353C|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.F363C|ZNF286A_ENST00000413242.2_Missense_Mutation_p.F363C|ZNF286A_ENST00000395894.2_3'UTR	p.F363C			Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	5	1641	+			363					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.1088T>G	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	t	15.41	2.824211	0.50739	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.48201	0.82;0.82	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000561	T	0.66829	0.2829	M	0.85777	2.775	0.48341	D	0.99963	D	0.89917	1.0	D	0.80764	0.994	T	0.70517	-0.4850	10	0.87932	D	0	-12.4116	6.5664	0.22515	0.0:0.1074:0.0:0.8926	.	363	Q9HBT8	Z286A_HUMAN	C	363;353;363	ENSP00000397163:F363C;ENSP00000408168:F353C	ENSP00000435872:F363C	F	+	2	0	ZNF286A	15560851	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.669000	0.83911	1.935000	0.56089	0.477000	0.44152	TTT		0.368	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		9	30	0	0	0	1	0	9	30				
CYFIP2	26999	broad.mit.edu	37	5	156757772	156757772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156757772C>T	ENST00000521420.1	+	19	2192	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*	CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R727*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R531*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R426*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R752*|CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.R727*|CYFIP2_ENST00000442283.2_Nonsense_Mutation_p.R12*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R652*					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAACGTTTTCGAGCTGAGTG	0.448																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(2179-2181)Cga>Tga		cytoplasmic FMR1 interacting protein 2							169.0	153.0	158.0					5																	156757772		1960	4171	6131	SO:0001587	stop_gained	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156757772C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2101C>T	5.37:g.156757772C>T	ENSP00000430904:p.Arg701*					CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R652*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R531*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.R701*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R752*|CYFIP2_ENST00000442283.2_Nonsense_Mutation_p.R12*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R426*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R727*	p.R727*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		20	2610	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	752						Nonsense_Mutation	SNP	ENST00000521420.1	37	c.2179C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.996161	0.99029	.	.	ENSG00000055163	ENST00000318218;ENST00000442283;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	5.37	-2.5	0.06384	.	0.050995	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7251	19.9323	0.97124	0.1858:0.8142:0.0:0.0	.	.	.	.	X	752;12;531;701;727;727;652;426	.	ENSP00000325817:R752X	R	+	1	2	CYFIP2	156690350	0.998000	0.40836	0.809000	0.32408	0.975000	0.68041	1.586000	0.36611	-0.314000	0.08716	-0.274000	0.10170	CGA		0.448	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		10	27	0	0	0	1	0	10	27				
C1GALT1	56913	broad.mit.edu	37	7	7273978	7273978	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:7273978T>G	ENST00000223122.3	+	1	90	c.28T>G	c.(28-30)Tta>Gta	p.L10V	C1GALT1_ENST00000402468.3_Missense_Mutation_p.L10V|C1GALT1_ENST00000436587.2_Missense_Mutation_p.L10V			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	10					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GCTGAATTTTTTAACCTTCCT	0.363																																						ENST00000436587.2																			0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(28-30)Tta>Gta		core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1							85.0	83.0	84.0					7																	7273978		2203	4300	6503	SO:0001583	missense	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7273978T>G	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.28T>G	7.37:g.7273978T>G	ENSP00000223122:p.Leu10Val					C1GALT1_ENST00000402468.3_Missense_Mutation_p.L10V|C1GALT1_ENST00000223122.2_Missense_Mutation_p.L10V	p.L10V	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	2	251	+			10					Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	c.28T>G	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	T	9.200	1.028251	0.19512	.	.	ENSG00000106392	ENST00000429911;ENST00000419721;ENST00000436587;ENST00000223122;ENST00000402468	T;T;T	0.59083	0.29;0.29;0.29	4.17	3.01	0.34805	.	0.000000	0.51477	D	0.000090	T	0.50871	0.1641	N	0.24115	0.695	0.30378	N	0.782279	B;D;B	0.65815	0.063;0.995;0.059	B;P;B	0.61800	0.061;0.894;0.038	T	0.48896	-0.8994	10	0.29301	T	0.29	-9.0435	3.1313	0.06424	0.0:0.2536:0.2208:0.5256	.	10;10;10	Q9NS00-2;C9JDX1;Q9NS00	.;.;C1GLT_HUMAN	V	10	ENSP00000389176:L10V;ENSP00000223122:L10V;ENSP00000384550:L10V	ENSP00000223122:L10V	L	+	1	2	C1GALT1	7240503	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.057000	0.30492	0.939000	0.37446	0.383000	0.25322	TTA		0.363	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		15	28	0	0	0	1	0	15	28				
SPAG17	200162	broad.mit.edu	37	1	118530745	118530745	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118530745G>T	ENST00000336338.5	-	39	5669	c.5604C>A	c.(5602-5604)ttC>ttA	p.F1868L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1868						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTTTTCAAAGAAATCTTTAC	0.363																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5602-5604)ttC>ttA		sperm associated antigen 17							69.0	65.0	66.0					1																	118530745		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118530745G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5604C>A	1.37:g.118530745G>T	ENSP00000337804:p.Phe1868Leu						p.F1868L	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	39	5669	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1868					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5604C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.274131	0.00257	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.17691	2.26	4.05	-0.104	0.13605	.	1.061000	0.07219	N	0.860532	T	0.04815	0.0130	M	0.68317	2.08	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.43097	-0.9412	10	0.13108	T	0.6	.	3.3471	0.07139	0.2037:0.0:0.4066:0.3897	.	1868	Q6Q759	SPG17_HUMAN	L	1868;348	ENSP00000337804:F1868L	ENSP00000337804:F1868L	F	-	3	2	SPAG17	118332268	0.031000	0.19500	0.006000	0.13384	0.004000	0.04260	0.214000	0.17541	-0.012000	0.14223	-1.047000	0.02352	TTC		0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		4	10	1	0	0.150653	1	0.151842	4	10				
NPR3	4883	broad.mit.edu	37	5	32786419	32786419	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32786419G>A	ENST00000265074.8	+	8	1937	c.1594G>A	c.(1594-1596)Gat>Aat	p.D532N	NPR3_ENST00000415685.2_Missense_Mutation_p.D315N|AC026703.1_ENST00000326958.1_5'Flank|NPR3_ENST00000415167.2_Missense_Mutation_p.D531N|NPR3_ENST00000434067.2_Missense_Mutation_p.D316N	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	532					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ATTACGGGAAGATTCCATCAG	0.413																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1594-1596)Gat>Aat		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						82.0	74.0	77.0					5																	32786419		1823	4084	5907	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32786419G>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1594G>A	5.37:g.32786419G>A	ENSP00000265074:p.Asp532Asn					NPR3_ENST00000415167.2_Missense_Mutation_p.D531N|NPR3_ENST00000415685.2_Missense_Mutation_p.D315N|NPR3_ENST00000434067.2_Missense_Mutation_p.D316N	p.D532N	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			8	1937	+			532					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1594G>A	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967424	0.92855	.	.	ENSG00000113389	ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.43637	-0.9379	10	0.32370	T	0.25	-14.9238	20.8794	0.99867	0.0:0.0:1.0:0.0	.	315;532;531	E7EPG9;P17342;Q60I31	.;ANPRC_HUMAN;.	N	316;315;532;531	ENSP00000388408:D316N;ENSP00000402490:D315N;ENSP00000265074:D532N;ENSP00000398028:D531N	ENSP00000265074:D532N	D	+	1	0	NPR3	32822176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.546000	0.73887	2.941000	0.99782	0.655000	0.94253	GAT		0.413	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		5	13	0	0	0	1	0	5	13				
GPR64	10149	broad.mit.edu	37	X	19009003	19009003	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19009003T>C	ENST00000379869.3	-	29	3196	c.3033A>G	c.(3031-3033)ttA>ttG	p.L1011L	GPR64_ENST00000354791.3_Silent_p.L995L|GPR64_ENST00000357544.3_Silent_p.L981L|GPR64_ENST00000357991.3_Silent_p.L1008L|GPR64_ENST00000340581.3_Silent_p.L892L|GPR64_ENST00000360279.4_Silent_p.L989L|GPR64_ENST00000379873.2_Silent_p.L960L|GPR64_ENST00000356606.4_Silent_p.L997L|GPR64_ENST00000379876.1_Silent_p.L987L|GPR64_ENST00000379878.3_Silent_p.L995L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	1011					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CAATAAAGTGTAAGCTTCCCC	0.398																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(2983-2985)ttA>ttG		G protein-coupled receptor 64							157.0	139.0	145.0					X																	19009003		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19009003T>C	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.3033A>G	X.37:g.19009003T>C						GPR64_ENST00000379876.1_Silent_p.L987L|GPR64_ENST00000356606.4_Silent_p.L997L|GPR64_ENST00000379873.2_Silent_p.L960L|GPR64_ENST00000357544.3_Silent_p.L981L|GPR64_ENST00000360279.4_Silent_p.L989L|GPR64_ENST00000357991.3_Silent_p.L1008L|GPR64_ENST00000354791.3_Silent_p.L995L|GPR64_ENST00000340581.3_Silent_p.L892L|GPR64_ENST00000379869.3_Silent_p.L1011L	p.L995L	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			28	3226	-	Hepatocellular(33;0.183)		1011					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.2985A>G	CCDS43923.1																																																																																				0.398	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			38	62	0	0	0	1	0	38	62				
HELB	92797	broad.mit.edu	37	12	66709096	66709096	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:66709096A>C	ENST00000247815.4	+	6	1992	c.1933A>C	c.(1933-1935)Aat>Cat	p.N645H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	645					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAAGTCAAGAAATTGTGCTAT	0.353																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(1933-1935)Aat>Cat		helicase (DNA) B							97.0	104.0	102.0					12																	66709096		2203	4299	6502	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66709096A>C	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1933A>C	12.37:g.66709096A>C	ENSP00000247815:p.Asn645His						p.N645H	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	6	1992	+			645					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1933A>C	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	8.250	0.808735	0.16467	.	.	ENSG00000127311	ENST00000247815	T	0.54071	0.59	4.74	0.908	0.19326	.	0.872502	0.10114	N	0.714351	T	0.33059	0.0850	N	0.21194	0.64	0.22457	N	0.999085	B	0.15473	0.013	B	0.17098	0.017	T	0.22800	-1.0206	9	.	.	.	-12.4414	4.7354	0.12986	0.4857:0.3603:0.154:0.0	.	645	Q8NG08	HELB_HUMAN	H	645	ENSP00000247815:N645H	.	N	+	1	0	HELB	64995363	0.566000	0.26618	0.994000	0.49952	0.444000	0.32077	0.431000	0.21444	0.234000	0.21139	0.528000	0.53228	AAT		0.353	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			20	38	0	0	0	1	0	20	38				
NUP62CL	54830	broad.mit.edu	37	X	106396734	106396734	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106396734C>A	ENST00000372466.4	-	6	597		c.e6-1		NUP62CL_ENST00000372461.3_Splice_Site	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like						protein transport (GO:0015031)	nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			lung(4)	4						AAATACGAATCTATAAAGAGA	0.254																																						ENST00000372466.4																			0				lung(4)	4						c.e6-1		nucleoporin 62kDa C-terminal like							35.0	34.0	34.0					X																	106396734		2198	4282	6480	SO:0001630	splice_region_variant	54830				protein transport	nuclear pore	structural constituent of nuclear pore	g.chrX:106396734C>A	AK000137	CCDS14527.1	Xq22.3	2008-02-05			ENSG00000198088	ENSG00000198088			25960	protein-coding gene	gene with protein product						12477932	Standard	NM_017681		Approved	FLJ20130	uc004ena.3	Q9H1M0	OTTHUMG00000022159	ENST00000372466.4:c.346-1G>T	X.37:g.106396734C>A						NUP62CL_ENST00000372461.3_Splice_Site		NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN			6	597	-								D3DUX4|Q8WVL6|Q9NXP2	Splice_Site	SNP	ENST00000372466.4	37		CCDS14527.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016476	0.35606	.	.	ENSG00000198088	ENST00000372466;ENST00000372465;ENST00000372461;ENST00000432145;ENST00000421752	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8632	0.70397	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP62CL	106283390	1.000000	0.71417	0.913000	0.36048	0.389000	0.30415	6.250000	0.72435	2.092000	0.63282	0.436000	0.28706	.		0.254	NUP62CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057828.1	NM_017681	Intron	10	14	1	0	0.00829132	1	0.00855608	10	14				
DDX26B	203522	broad.mit.edu	37	X	134713730	134713730	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134713730G>T	ENST00000370752.4	+	15	2360	c.2026G>T	c.(2026-2028)Gat>Tat	p.D676Y	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	676										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TATCATTCACGATGGCCATGA	0.428																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(2026-2028)Gat>Tat		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							80.0	76.0	77.0					X																	134713730		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134713730G>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2026G>T	X.37:g.134713730G>T	ENSP00000359788:p.Asp676Tyr					DDX26B_ENST00000493637.1_3'UTR	p.D676Y	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			15	2360	+	Acute lymphoblastic leukemia(192;6.56e-05)		676					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.2026G>T	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	g	3.542	-0.093517	0.07053	.	.	ENSG00000165359	ENST00000370752	T	0.34072	1.38	5.67	2.94	0.34122	.	0.315023	0.38058	N	0.001829	T	0.34745	0.0908	L	0.50333	1.59	0.09310	N	0.999995	P;B	0.41041	0.736;0.003	B;B	0.42214	0.38;0.01	T	0.16453	-1.0402	10	0.72032	D	0.01	-3.9649	10.4402	0.44462	0.2201:0.0:0.7799:0.0	.	676;676	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	Y	676	ENSP00000359788:D676Y	ENSP00000359788:D676Y	D	+	1	0	DDX26B	134541396	0.998000	0.40836	0.019000	0.16419	0.004000	0.04260	3.196000	0.51020	0.266000	0.21894	-0.879000	0.02964	GAT		0.428	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		19	50	1	0	4.96729e-08	1	5.79844e-08	19	50				
STAG1	10274	broad.mit.edu	37	3	136096557	136096557	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136096557A>C	ENST00000383202.2	-	23	2571	c.2315T>G	c.(2314-2316)tTt>tGt	p.F772C	STAG1_ENST00000236698.5_Missense_Mutation_p.F772C|STAG1_ENST00000434713.2_Missense_Mutation_p.F546C|STAG1_ENST00000536929.1_Missense_Mutation_p.F356C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	772					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AACAGCCAAAAAGGATTTCAC	0.368																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2314-2316)tTt>tGt		stromal antigen 1							85.0	82.0	83.0					3																	136096557		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136096557A>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2315T>G	3.37:g.136096557A>C	ENSP00000372689:p.Phe772Cys					STAG1_ENST00000236698.5_Missense_Mutation_p.F772C|STAG1_ENST00000434713.2_Missense_Mutation_p.F546C|STAG1_ENST00000536929.1_Missense_Mutation_p.F356C	p.F772C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			23	2571	-			772					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.2315T>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525058	0.85600	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	6.01	6.01	0.97437	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.87578	0.998;0.82	T	0.67496	-0.5656	10	0.62326	D	0.03	.	16.5722	0.84615	1.0:0.0:0.0:0.0	.	772;772	Q6P275;Q8WVM7	.;STAG1_HUMAN	C	772;772;546;356	ENSP00000372689:F772C;ENSP00000236698:F772C;ENSP00000404396:F546C;ENSP00000445787:F356C	ENSP00000236698:F772C	F	-	2	0	STAG1	137579247	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.894000	0.92506	2.313000	0.78055	0.456000	0.33151	TTT		0.368	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		18	23	0	0	0	1	0	18	23				
MAGEA8	4107	broad.mit.edu	37	X	149013420	149013420	+	Missense_Mutation	SNP	G	G	A	rs150893284		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149013420G>A	ENST00000542674.1	+	3	895	c.374G>A	c.(373-375)cGc>cAc	p.R125H	MAGEA8_ENST00000535454.1_Missense_Mutation_p.R125H|MAGEA8_ENST00000286482.1_Missense_Mutation_p.R125H	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	125	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGCTCCGCAAATATCAA	0.498													g|||	1	0.000264901	0.0	0.0014	3775	,	,		15714	0.0		0.0	False		,,,				2504	0.0					ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(373-375)cGc>cAc		melanoma antigen family A, 8		G	HIS/ARG,HIS/ARG,HIS/ARG	1,3834		0,1,1631,571	87.0	87.0	87.0		374,374,374	-1.9	0.0	X	dbSNP_134	87	0,6726		0,0,2428,1870	no	missense,missense,missense	MAGEA8	NM_001166400.1,NM_001166401.1,NM_005364.4	29,29,29	0,1,4059,2441	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign	125/319,125/319,125/319	149013420	1,10560	2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013420G>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.374G>A	X.37:g.149013420G>A	ENSP00000443776:p.Arg125His					MAGEA8_ENST00000542674.1_Missense_Mutation_p.R125H|MAGEA8_ENST00000286482.1_Missense_Mutation_p.R125H	p.R125H	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	923	+	Acute lymphoblastic leukemia(192;6.56e-05)		125			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.374G>A	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	2.893	-0.229199	0.06022	2.61E-4	0.0	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04809	3.55;3.55;3.55	0.963	-1.93	0.07594	.	0.621529	0.16430	N	0.214772	T	0.01421	0.0046	N	0.02345	-0.59	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41466	-0.9507	10	0.15499	T	0.54	.	1.7407	0.02952	0.2907:0.0:0.3076:0.4017	.	125	P43361	MAGA8_HUMAN	H	125	ENSP00000438293:R125H;ENSP00000443776:R125H;ENSP00000286482:R125H	ENSP00000286482:R125H	R	+	2	0	MAGEA8	148774078	0.230000	0.23740	0.006000	0.13384	0.519000	0.34347	-0.035000	0.12205	-1.263000	0.02455	0.181000	0.17075	CGC		0.498	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		51	110	0	0	0	1	0	51	110				
ARHGEF28	64283	broad.mit.edu	37	5	73181709	73181709	+	Silent	SNP	G	G	A	rs180779810	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:73181709G>A	ENST00000426542.2	+	24	3110	c.3090G>A	c.(3088-3090)gcG>gcA	p.A1030A	ARHGEF28_ENST00000287898.5_Silent_p.A1030A|ARHGEF28_ENST00000437974.1_Silent_p.A1030A|ARHGEF28_ENST00000513042.2_Silent_p.A1030A|ARHGEF28_ENST00000545377.1_Silent_p.A1030A|ARHGEF28_ENST00000296799.4_Silent_p.A717A|ARHGEF28_ENST00000296794.6_Silent_p.A1030A|ARHGEF28_ENST00000512883.1_5'Flank			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1030	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TACGCAAAGCGCTTTGCTTAA	0.318													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19274	0.0		0.001	False		,,,				2504	0.0					ENST00000545377.1																			0											c.(3088-3090)gcG>gcA		Rho guanine nucleotide exchange factor (GEF) 28		C	,	0,3644		0,0,1822	53.0	51.0	52.0		3090,3090	-3.6	0.8	5		52	1,8157		0,1,4078	no	coding-synonymous,coding-synonymous	RGNEF	NM_001080479.2,NM_001177693.1	,	0,1,5900	AA,AG,GG		0.0123,0.0,0.0085	,	1030/1732,1030/1706	73181709	1,11801	1822	4079	5901	SO:0001819	synonymous_variant	64283							g.chr5:73181709G>A		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3090G>A	5.37:g.73181709G>A						ARHGEF28_ENST00000426542.2_Silent_p.A1030A|ARHGEF28_ENST00000296799.4_Silent_p.A717A|ARHGEF28_ENST00000513042.2_Silent_p.A1030A|ARHGEF28_ENST00000437974.1_Silent_p.A1030A|ARHGEF28_ENST00000287898.5_Silent_p.A1030A|ARHGEF28_ENST00000296794.6_Silent_p.A1030A	p.A1030A	NM_001080479.2	NP_001073948.2					25	3266	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	c.3090G>A	CCDS54870.1																																																																																				0.318	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			8	24	0	0	0	1	0	8	24				
CAND2	23066	broad.mit.edu	37	3	12858428	12858428	+	Missense_Mutation	SNP	G	G	A	rs200382977		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12858428G>A	ENST00000456430.2	+	10	2038	c.1997G>A	c.(1996-1998)cGg>cAg	p.R666Q	CAND2_ENST00000295989.5_Missense_Mutation_p.R573Q	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	666					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGAACCAGCGGGCTTTGCGA	0.667																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1996-1998)cGg>cAg		cullin-associated and neddylation-dissociated 2 (putative)		G	GLN/ARG,GLN/ARG	0,4166		0,0,2083	38.0	42.0	41.0		1997,1718	4.9	1.0	3		41	3,8413		0,3,4205	yes	missense,missense	CAND2	NM_001162499.1,NM_012298.2	43,43	0,3,6288	AA,AG,GG		0.0356,0.0,0.0238	probably-damaging,probably-damaging	666/1237,573/1120	12858428	3,12579	2083	4208	6291	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858428G>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1997G>A	3.37:g.12858428G>A	ENSP00000387641:p.Arg666Gln					CAND2_ENST00000295989.5_Missense_Mutation_p.R573Q	p.R666Q	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	2038	+			666					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1997G>A	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368050	0.82463	0.0	3.56E-4	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.51071	0.72;0.72	4.95	4.95	0.65309	Armadillo-like helical (1);Armadillo-type fold (1);	0.070502	0.56097	D	0.000025	T	0.76271	0.3964	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.975	T	0.82030	-0.0659	10	0.52906	T	0.07	-31.8767	16.0496	0.80745	0.0:0.0:1.0:0.0	.	666;573	O75155;O75155-2	CAND2_HUMAN;.	Q	573;666	ENSP00000295989:R573Q;ENSP00000387641:R666Q	ENSP00000295989:R573Q	R	+	2	0	CAND2	12833428	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.638000	0.98445	2.456000	0.83038	0.561000	0.74099	CGG		0.667	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		43	58	0	0	0	1	0	43	58				
MYH9	4627	broad.mit.edu	37	22	36685180	36685180	+	Missense_Mutation	SNP	C	C	T	rs549408311		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:36685180C>T	ENST00000216181.5	-	32	4738	c.4508G>A	c.(4507-4509)cGc>cAc	p.R1503H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1503					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CATCTCCGTGCGGAACTGCTT	0.637			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				c|||	1	0.000199681	0.0	0.0	5008	,	,		19132	0.0		0.0	False		,,,				2504	0.001					ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4507-4509)cGc>cAc		myosin, heavy chain 9, non-muscle							103.0	77.0	86.0					22																	36685180		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36685180C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4508G>A	22.37:g.36685180C>T	ENSP00000216181:p.Arg1503His						p.R1503H	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			32	4738	-			1503					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4508G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	c	27.6	4.849169	0.91277	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.78003	-1.14	5.2	5.2	0.72013	Myosin tail (1);	0.179769	0.49305	D	0.000160	D	0.86293	0.5898	L	0.61387	1.9	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.87483	0.2422	10	0.87932	D	0	.	19.1126	0.93323	0.0:1.0:0.0:0.0	.	1503	P35579	MYH9_HUMAN	H	925;105;1503	ENSP00000216181:R1503H	ENSP00000216181:R1503H	R	-	2	0	MYH9	35015126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.876000	0.63079	2.586000	0.87340	0.556000	0.70494	CGC		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		18	41	0	0	0	1	0	18	41				
GDA	9615	broad.mit.edu	37	9	74817652	74817652	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:74817652A>G	ENST00000358399.3	+	3	471	c.378A>G	c.(376-378)agA>agG	p.R126R	GDA_ENST00000376989.3_Silent_p.R101R|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Silent_p.R52R|GDA_ENST00000238018.4_Silent_p.R126R|GDA_ENST00000376986.1_Silent_p.R84R	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	126					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TATATACCAGAGTTGTCGTAA	0.398																																						ENST00000358399.3																			0				central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(376-378)agA>agG		guanine deaminase							209.0	191.0	197.0					9																	74817652		2203	4300	6503	SO:0001819	synonymous_variant	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74817652A>G	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.378A>G	9.37:g.74817652A>G						GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Silent_p.R84R|GDA_ENST00000545168.1_Silent_p.R52R|GDA_ENST00000376989.3_Silent_p.R101R|GDA_ENST00000238018.4_Silent_p.R126R	p.R126R	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	3	471	+		Myeloproliferative disorder(762;0.0122)	126					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	ENST00000358399.3	37	c.378A>G	CCDS6641.1																																																																																				0.398	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			11	113	0	0	0	1	0	11	113				
SH3BP4	23677	broad.mit.edu	37	2	235962357	235962357	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:235962357A>C	ENST00000409212.1	+	6	3296	c.2789A>C	c.(2788-2790)aAg>aCg	p.K930T	SH3BP4_ENST00000344528.4_Missense_Mutation_p.K930T|SH3BP4_ENST00000392011.2_Missense_Mutation_p.K930T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	930					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCCATCACCAAGCGCTGGAAG	0.577																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(2788-2790)aAg>aCg		SH3-domain binding protein 4							171.0	162.0	165.0					2																	235962357		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235962357A>C	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2789A>C	2.37:g.235962357A>C	ENSP00000386862:p.Lys930Thr					SH3BP4_ENST00000392011.2_Missense_Mutation_p.K930T|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K930T	p.K930T			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	6	3296	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	930					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.2789A>C	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.415644	0.42817	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000538289	T;T;T	0.44482	0.92;0.92;0.92	5.6	3.21	0.36854	.	0.095980	0.64402	D	0.000001	T	0.39036	0.1063	M	0.78049	2.395	0.50813	D	0.99989	P;P	0.41366	0.747;0.747	B;B	0.36418	0.224;0.224	T	0.28902	-1.0029	10	0.87932	D	0	-29.0136	6.1781	0.20455	0.777:0.0:0.0797:0.1433	.	930;930	A8K594;Q9P0V3	.;SH3B4_HUMAN	T	930;520;930;930;168	ENSP00000375867:K930T;ENSP00000386862:K930T;ENSP00000340237:K930T	ENSP00000340237:K930T	K	+	2	0	SH3BP4	235627096	1.000000	0.71417	0.999000	0.59377	0.561000	0.35649	5.973000	0.70456	0.410000	0.25675	-0.336000	0.08194	AAG		0.577	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			39	179	0	0	0	1	0	39	179				
CSNK2B	1460	broad.mit.edu	37	6	31636911	31636911	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:31636911C>A	ENST00000375882.2	+	5	485	c.329C>A	c.(328-330)cCt>cAt	p.P110H	CSNK2B_ENST00000375885.4_Missense_Mutation_p.P129H|LY6G5B_ENST00000409525.1_5'Flank|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375866.2_Missense_Mutation_p.P110H|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.P110H|GPANK1_ENST00000375906.1_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.P110H	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	110					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						GGTTACTGTCCTCGTGTGTAC	0.498																																						ENST00000375880.2																			0											c.(328-330)cCt>cAt									122.0	100.0	108.0					6																	31636911		1511	2709	4220	SO:0001583	missense	0							g.chr6:31636911C>A	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.329C>A	6.37:g.31636911C>A	ENSP00000365042:p.Pro110His					CSNK2B_ENST00000375866.2_Missense_Mutation_p.P110H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.P129H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.P110H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.P110H	p.P110H							5	447	+								B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.329C>A	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656533	0.88154	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.99	5.99	0.97316	Casein kinase II, regulatory subunit, beta-sheet (1);	0.053118	0.85682	N	0.000000	D	0.85146	0.5630	M	0.93197	3.39	0.50632	D	0.999882	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.98	D	0.87610	0.2503	8	0.66056	D	0.02	-14.4756	17.9715	0.89115	0.0:1.0:0.0:0.0	.	110;110	Q5SRQ3;P67870	.;CSK2B_HUMAN	H	129;110;110;110;110	.	ENSP00000365025:P110H	P	+	2	0	CSNK2B	31744890	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.840000	0.75369	2.840000	0.97914	0.655000	0.94253	CCT		0.498	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		16	39	1	0	4.7546e-09	1	5.67505e-09	16	39				
ZRANB3	84083	broad.mit.edu	37	2	135988495	135988495	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135988495G>A	ENST00000264159.6	-	13	1658	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	ZRANB3_ENST00000401392.1_Silent_p.F514F|ZRANB3_ENST00000536680.1_Silent_p.F514F|ZRANB3_ENST00000412849.1_5'UTR	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	514					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTCTTTTTCGAACTAGGAAA	0.323																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1540-1542)ttC>ttT		zinc finger, RAN-binding domain containing 3							40.0	38.0	39.0					2																	135988495		1814	4071	5885	SO:0001819	synonymous_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135988495G>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1542C>T	2.37:g.135988495G>A						ZRANB3_ENST00000536680.1_Silent_p.F514F|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Silent_p.F514F	p.F514F			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	13	1754	-			514					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	c.1542C>T	CCDS46419.1																																																																																				0.323	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		9	8	0	0	0	1	0	9	8				
THOC5	8563	broad.mit.edu	37	22	29915099	29915099	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29915099A>C	ENST00000490103.1	-	15	1507	c.1385T>G	c.(1384-1386)aTt>aGt	p.I462S	THOC5_ENST00000397871.1_Missense_Mutation_p.I462S|THOC5_ENST00000397873.2_Missense_Mutation_p.I462S|THOC5_ENST00000397872.1_Missense_Mutation_p.I462S|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	462					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGTCAGCAATCACTGTTTG	0.582																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1384-1386)aTt>aGt		THO complex 5							163.0	125.0	138.0					22																	29915099		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29915099A>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1385T>G	22.37:g.29915099A>C	ENSP00000420306:p.Ile462Ser					CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Missense_Mutation_p.I462S|THOC5_ENST00000397871.1_Missense_Mutation_p.I462S|THOC5_ENST00000397872.1_Missense_Mutation_p.I462S	p.I462S	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			15	1507	-			462					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1385T>G	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023330	0.35701	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.76	4.67	0.58626	.	0.600198	0.18378	N	0.143053	T	0.06280	0.0162	N	0.02011	-0.69	0.27411	N	0.954569	B	0.02656	0.0	B	0.04013	0.001	T	0.35450	-0.9788	10	0.07325	T	0.83	-11.9305	6.3541	0.21393	0.8411:0.0:0.1589:0.0	.	462	Q13769	THOC5_HUMAN	S	462	ENSP00000420306:I462S;ENSP00000380970:I462S;ENSP00000380969:I462S;ENSP00000380971:I462S	ENSP00000380969:I462S	I	-	2	0	THOC5	28245099	0.126000	0.22350	0.732000	0.30844	0.841000	0.47740	2.992000	0.49417	2.201000	0.70794	0.533000	0.62120	ATT		0.582	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		30	58	0	0	0	1	0	30	58				
SMARCAD1	56916	broad.mit.edu	37	4	95200129	95200129	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95200129C>T	ENST00000354268.4	+	19	2419	c.2346C>T	c.(2344-2346)gcC>gcT	p.A782A	SMARCAD1_ENST00000457823.2_Silent_p.A784A|SMARCAD1_ENST00000509418.1_Silent_p.A352A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	782					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GGAAAATGGCCAATCATCCTT	0.343																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2344-2346)gcC>gcT		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							116.0	110.0	112.0					4																	95200129		2203	4300	6503	SO:0001819	synonymous_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95200129C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2346C>T	4.37:g.95200129C>T						SMARCAD1_ENST00000457823.2_Silent_p.A784A|SMARCAD1_ENST00000509418.1_Silent_p.A352A	p.A782A			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	19	2419	+			782					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Silent	SNP	ENST00000354268.4	37	c.2346C>T	CCDS3639.1																																																																																				0.343	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		7	16	0	0	0	1	0	7	16				
TBX5	6910	broad.mit.edu	37	12	114832641	114832641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114832641C>A	ENST00000310346.4	-	6	1234	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	TBX5_ENST00000526441.1_Nonsense_Mutation_p.E190*|TBX5_ENST00000552726.1_5'Flank|TBX5_ENST00000349716.5_Nonsense_Mutation_p.E140*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.E190*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	190					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCATTATTTTCATCCGCTTTC	0.358																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	GRCh37	CM004661	TBX5	M		c.(568-570)Gaa>Taa		T-box 5							217.0	220.0	219.0					12																	114832641		2203	4300	6503	SO:0001587	stop_gained	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114832641C>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.568G>T	12.37:g.114832641C>A	ENSP00000309913:p.Glu190*					TBX5_ENST00000349716.5_Nonsense_Mutation_p.E140*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.E190*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.E190*	p.E190*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	6	1234	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		190					A6ND77|O15301|Q96TB0|Q9Y4I2	Nonsense_Mutation	SNP	ENST00000310346.4	37	c.568G>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	41	8.829143	0.98970	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.8996	0.96980	0.0:1.0:0.0:0.0	.	.	.	.	X	140;190;87;190;190	.	ENSP00000309913:E190X	E	-	1	0	TBX5	113317024	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	7.445000	0.80570	2.878000	0.98634	0.650000	0.86243	GAA		0.358	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		76	135	1	0	1.75807e-36	1	2.52894e-36	76	135				
FAM3B	54097	broad.mit.edu	37	21	42720602	42720602	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:42720602T>G	ENST00000357985.2	+	7	715	c.569T>G	c.(568-570)tTt>tGt	p.F190C	FAM3B_ENST00000398647.3_Missense_Mutation_p.F142C|FAM3B_ENST00000398652.3_Missense_Mutation_p.F229C|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.F213C	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	190					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				AGCTGGGTATTTATTGCAGCA	0.418																																						ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(685-687)tTt>tGt		family with sequence similarity 3, member B							96.0	89.0	91.0					21																	42720602		2203	4300	6503	SO:0001583	missense	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42720602T>G	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.569T>G	21.37:g.42720602T>G	ENSP00000350673:p.Phe190Cys					FAM3B_ENST00000398646.3_Missense_Mutation_p.F213C|FAM3B_ENST00000357985.2_Missense_Mutation_p.F190C|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Missense_Mutation_p.F142C	p.F229C			P58499	FAM3B_HUMAN			8	752	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	190						Missense_Mutation	SNP	ENST00000357985.2	37	c.686T>G	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.552015	0.45487	.	.	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398647;ENST00000398646	T;T;T;T	0.67698	-0.08;-0.08;-0.28;-0.1	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000001	D	0.83811	0.5335	M	0.91717	3.235	0.45035	D	0.998055	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86723	0.1943	10	0.87932	D	0	.	10.8012	0.46489	0.0:0.0:0.0:1.0	.	213;142;190	A8MTF8;P58499-3;P58499	.;.;FAM3B_HUMAN	C	190;229;142;213	ENSP00000350673:F190C;ENSP00000381646:F229C;ENSP00000381642:F142C;ENSP00000381641:F213C	ENSP00000350673:F190C	F	+	2	0	FAM3B	41642472	0.995000	0.38212	0.395000	0.26283	0.475000	0.33008	4.277000	0.58939	1.810000	0.52873	0.533000	0.62120	TTT		0.418	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		19	36	0	0	0	1	0	19	36				
OTUD6B	51633	broad.mit.edu	37	8	92082634	92082634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92082634G>T	ENST00000285420.4	+	1	211	c.112G>T	c.(112-114)Gag>Tag	p.E38*	GS1-251I9.4_ENST00000524003.1_RNA|GS1-251I9.4_ENST00000522817.1_RNA|OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	8							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			ATTGACCGAAGAGCTTGATGA	0.582																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(112-114)Gag>Tag		OTU domain containing 6B							98.0	90.0	93.0					8																	92082634		2203	4300	6503	SO:0001587	stop_gained	51633							g.chr8:92082634G>T		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.112G>T	8.37:g.92082634G>T	ENSP00000285420:p.Glu38*					OTUD6B_ENST00000404789.3_5'UTR	p.E38*	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		1	211	+			8					A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Nonsense_Mutation	SNP	ENST00000285420.4	37	c.112G>T	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	35	5.485718	0.96323	.	.	ENSG00000155100	ENST00000285420	.	.	.	5.65	5.65	0.86999	.	0.143063	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-3.2664	18.891	0.92403	0.0:0.0:1.0:0.0	.	.	.	.	X	38	.	ENSP00000285420:E38X	E	+	1	0	OTUD6B	92151810	1.000000	0.71417	0.396000	0.26296	0.291000	0.27294	5.461000	0.66699	2.941000	0.99782	0.655000	0.94253	GAG		0.582	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		9	14	1	0	0.0477658	1	0.0484551	9	14				
ROS1	6098	broad.mit.edu	37	6	117715350	117715350	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:117715350C>A	ENST00000368508.3	-	10	1337	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	ROS1_ENST00000368507.3_Missense_Mutation_p.R389I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	380					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R380I(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAAATACATTCTTTGATAAAG	0.353			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	2	Substitution - Missense(2)	p.R380I(2)	large_intestine(2)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1138-1140)aGa>aTa		c-ros oncogene 1 , receptor tyrosine kinase							52.0	54.0	53.0					6																	117715350		2203	4299	6502	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117715350C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1139G>T	6.37:g.117715350C>A	ENSP00000357494:p.Arg380Ile					ROS1_ENST00000368507.3_Missense_Mutation_p.R389I|GOPC_ENST00000467125.1_Intron	p.R380I	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	10	1337	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	380					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1139G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755001	0.69648	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91792	-2.91;-2.91	5.12	3.32	0.38043	.	0.160445	0.43919	D	0.000512	D	0.90435	0.7005	L	0.59436	1.845	0.80722	D	1	D	0.61697	0.99	P	0.56398	0.797	D	0.90683	0.4607	10	0.72032	D	0.01	.	8.15	0.31134	0.0:0.7539:0.0:0.2461	.	380	P08922	ROS1_HUMAN	I	380;389	ENSP00000357494:R380I;ENSP00000357493:R389I	ENSP00000357493:R389I	R	-	2	0	ROS1	117822043	0.961000	0.32948	0.994000	0.49952	0.983000	0.72400	0.046000	0.14035	1.471000	0.48121	0.650000	0.86243	AGA		0.353	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			5	12	1	0	0.000602214	1	0.000636035	5	12				
WEE1	7465	broad.mit.edu	37	11	9598080	9598080	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9598080A>C	ENST00000450114.2	+	4	1146	c.893A>C	c.(892-894)gAa>gCa	p.E298A	snoU13_ENST00000458785.1_RNA|WEE1_ENST00000299613.6_Missense_Mutation_p.E84A	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	298					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TATACAACAGAATTTCATGAG	0.333																																						ENST00000299613.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23						c.(250-252)gAa>gCa		WEE1 G2 checkpoint kinase							100.0	106.0	104.0					11																	9598080		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9598080A>C	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.893A>C	11.37:g.9598080A>C	ENSP00000402084:p.Glu298Ala					WEE1_ENST00000450114.2_Missense_Mutation_p.E298A	p.E84A	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	4	1006	+			298					B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.251A>C	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	A	31	5.088438	0.94100	.	.	ENSG00000166483	ENST00000450114;ENST00000299613	T;T	0.40476	1.03;1.03	5.64	5.64	0.86602	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.71928	-0.4444	10	0.46703	T	0.11	-16.8655	15.8496	0.78916	1.0:0.0:0.0:0.0	.	106;298	Q6MZL0;P30291	.;WEE1_HUMAN	A	298;84	ENSP00000402084:E298A;ENSP00000299613:E84A	ENSP00000299613:E84A	E	+	2	0	WEE1	9554656	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.141000	0.66446	0.477000	0.44152	GAA		0.333	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		6	53	0	0	0	1	0	6	53				
AURKA	6790	broad.mit.edu	37	20	54948493	54948493	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:54948493A>G	ENST00000347343.2	-	7	1092	c.825T>C	c.(823-825)ttT>ttC	p.F275F	AURKA_ENST00000395909.4_Silent_p.F275F|AURKA_ENST00000395915.3_Silent_p.F275F|AURKA_ENST00000371356.2_Silent_p.F275F|AURKA_ENST00000395907.1_Silent_p.F275F|AURKA_ENST00000395911.1_Silent_p.F275F|AURKA_ENST00000312783.6_Silent_p.F275F|AURKA_ENST00000395914.1_Silent_p.F275F|AURKA_ENST00000395913.3_Silent_p.F275F	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CTGACCACCCAAAATCTGCAA	0.423																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(823-825)ttT>ttC		aurora kinase A							116.0	103.0	107.0					20																	54948493		2203	4300	6503	SO:0001819	synonymous_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54948493A>G	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.825T>C	20.37:g.54948493A>G						AURKA_ENST00000395915.3_Silent_p.F275F|AURKA_ENST00000395914.1_Silent_p.F275F|AURKA_ENST00000312783.6_Silent_p.F275F|AURKA_ENST00000395913.3_Silent_p.F275F|AURKA_ENST00000395907.1_Silent_p.F275F|AURKA_ENST00000347343.2_Silent_p.F275F|AURKA_ENST00000395911.1_Silent_p.F275F|AURKA_ENST00000371356.2_Silent_p.F275F	p.F275F	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		9	1390	-			275			Protein kinase.		E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Silent	SNP	ENST00000347343.2	37	c.825T>C	CCDS13451.1																																																																																				0.423	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600		32	46	0	0	0	1	0	32	46				
TRPC5	7224	broad.mit.edu	37	X	111019750	111019750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111019750C>A	ENST00000262839.2	-	11	3631	c.2713G>T	c.(2713-2715)Gaa>Taa	p.E905*		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	905					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCACCTAATTCTACCTCACTG	0.483																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2713-2715)Gaa>Taa		transient receptor potential cation channel, subfamily C, member 5							89.0	71.0	77.0					X																	111019750		2203	4300	6503	SO:0001587	stop_gained	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111019750C>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2713G>T	X.37:g.111019750C>A	ENSP00000262839:p.Glu905*						p.E905*	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			11	3631	-			905					B2RP53|O75233|Q5JXY8|Q9Y514	Nonsense_Mutation	SNP	ENST00000262839.2	37	c.2713G>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	47	13.078650	0.99718	.	.	ENSG00000072315	ENST00000262839	.	.	.	5.58	5.58	0.84498	.	0.078283	0.48767	D	0.000173	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-10.4995	12.0687	0.53603	0.0:0.9194:0.0:0.0806	.	.	.	.	X	905	.	ENSP00000262839:E905X	E	-	1	0	TRPC5	110906406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.358000	0.59442	2.340000	0.79590	0.513000	0.50165	GAA		0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		6	51	1	0	3.59834e-05	1	3.93264e-05	6	51				
FGA	2243	broad.mit.edu	37	4	155507462	155507462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155507462C>T	ENST00000302053.3	-	5	1197	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	FGA_ENST00000403106.3_Nonsense_Mutation_p.W373*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	373					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|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)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCAGAGGTCCAGTGCCCAG	0.547																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1117-1119)tgG>tgA		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						64.0	69.0	67.0					4																	155507462		2203	4299	6502	SO:0001587	stop_gained	2243				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.chr4:155507462C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1119G>A	4.37:g.155507462C>T	ENSP00000306361:p.Trp373*					FGA_ENST00000403106.3_Nonsense_Mutation_p.W373*	p.W373*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1197	-	all_hematologic(180;0.215)	Renal(120;0.0458)	373					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Nonsense_Mutation	SNP	ENST00000302053.3	37	c.1119G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484447	0.63962	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	.	.	.	4.52	3.64	0.41730	.	19.814700	0.00871	N	0.002035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.975	0.41777	0.349:0.651:0.0:0.0	.	.	.	.	X	373	.	ENSP00000306361:W373X	W	-	3	0	FGA	155726912	0.009000	0.17119	0.031000	0.17742	0.010000	0.07245	0.737000	0.26144	2.046000	0.60703	0.650000	0.86243	TGG		0.547	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		8	111	0	0	0	1	0	8	111				
COL14A1	7373	broad.mit.edu	37	8	121243839	121243839	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:121243839G>T	ENST00000297848.3	+	19	2601	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.E682D|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E777D	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGGACCCTGAGGAAGAAGTCA	0.443																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(2329-2331)gaG>gaT		collagen, type XIV, alpha 1							88.0	81.0	84.0					8																	121243839		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121243839G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2331G>T	8.37:g.121243839G>T	ENSP00000297848:p.Glu777Asp					COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E777D|COL14A1_ENST00000247781.3_Missense_Mutation_p.E682D|COL14A1_ENST00000432943.2_3'UTR	p.E777D	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		19	2601	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		777			Fibronectin type-III 6.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2331G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	8.270	0.813103	0.16537	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.55	-1.58	0.08479	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.672683	0.15389	N	0.264921	T	0.27205	0.0667	N	0.25332	0.735	0.80722	D	1	B;B	0.25007	0.116;0.001	B;B	0.25884	0.064;0.001	T	0.10917	-1.0609	10	0.15066	T	0.55	.	0.3238	0.00307	0.2359:0.2012:0.3067:0.2562	.	777;777	Q05707-2;Q05707	.;COEA1_HUMAN	D	777;777;682;590	ENSP00000311809:E777D;ENSP00000297848:E777D;ENSP00000247781:E682D;ENSP00000409461:E590D	ENSP00000247781:E682D	E	+	3	2	COL14A1	121313020	0.029000	0.19370	0.457000	0.27056	0.890000	0.51754	-0.601000	0.05687	-0.164000	0.10927	0.561000	0.74099	GAG		0.443	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		9	24	1	0	3.09899e-07	1	3.54467e-07	9	24				
EIF5	1983	broad.mit.edu	37	14	103803151	103803151	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:103803151C>A	ENST00000216554.3	+	5	968	c.292C>A	c.(292-294)Ctc>Atc	p.L98I	EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Missense_Mutation_p.L98I|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000558506.1_Missense_Mutation_p.L98I	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	98					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AAAATTTGTTCTCTGTCCTGA	0.393																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(292-294)Ctc>Atc		eukaryotic translation initiation factor 5							116.0	107.0	110.0					14																	103803151		2203	4300	6503	SO:0001583	missense	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103803151C>A	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.292C>A	14.37:g.103803151C>A	ENSP00000216554:p.Leu98Ile					EIF5_ENST00000558506.1_Missense_Mutation_p.L98I|EIF5_ENST00000392715.2_Missense_Mutation_p.L98I|EIF5_ENST00000560200.1_3'UTR	p.L98I	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		5	968	+		Melanoma(154;0.155)	98					Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	c.292C>A	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	23.1	4.377242	0.82682	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.46819	0.86;0.86	5.48	5.48	0.80851	Translation initiation factor IF2/IF5, N-terminal (1);Translation initiation factor IF2/IF5, zinc-binding (1);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.76727	2.345	0.80722	D	1	B	0.06786	0.001	B	0.27170	0.077	T	0.57004	-0.7885	10	0.87932	D	0	-0.7901	19.3574	0.94420	0.0:1.0:0.0:0.0	.	98	P55010	IF5_HUMAN	I	98	ENSP00000216554:L98I;ENSP00000376477:L98I	ENSP00000216554:L98I	L	+	1	0	EIF5	102872904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.582000	0.87167	0.555000	0.69702	CTC		0.393	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		19	40	1	0	1.56452e-12	1	1.97515e-12	19	40				
FSTL4	23105	broad.mit.edu	37	5	132553062	132553062	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132553062G>T	ENST00000265342.7	-	13	1716	c.1467C>A	c.(1465-1467)atC>atA	p.I489I	CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	489						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAGGACAGATTTCTTCCT	0.502																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1465-1467)atC>atA		follistatin-like 4							75.0	73.0	74.0					5																	132553062		2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132553062G>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1467C>A	5.37:g.132553062G>T						CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	p.I489I	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1716	-		all_cancers(142;0.244)	489					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.1467C>A	CCDS34238.1																																																																																				0.502	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		10	23	1	0	3.86212e-05	1	4.21111e-05	10	23				
ZNF493	284443	broad.mit.edu	37	19	21606234	21606234	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21606234T>G	ENST00000355504.4	+	2	655	c.389T>G	c.(388-390)aTt>aGt	p.I130S	ZNF493_ENST00000392288.2_Missense_Mutation_p.I258S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CATAAGAGAATTCATACTGGA	0.368																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(772-774)aTt>aGt		zinc finger protein 493							38.0	41.0	40.0					19																	21606234		2203	4297	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606234T>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.389T>G	19.37:g.21606234T>G	ENSP00000347691:p.Ile130Ser					ZNF493_ENST00000355504.4_Missense_Mutation_p.I130S|CTD-2561J22.3_ENST00000600810.1_Intron	p.I258S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	882	+			130					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.773T>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.75	1.732639	0.30684	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.17691	2.26;2.26	0.927	0.927	0.19437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21145	0.0509	N	0.25380	0.74	0.80722	D	1	D;D	0.76494	0.999;0.984	D;D	0.72075	0.976;0.964	T	0.11817	-1.0572	9	0.62326	D	0.03	.	3.7166	0.08441	0.0:0.2463:0.0:0.7537	.	130;258	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	S	258;130	ENSP00000376110:I258S;ENSP00000347691:I130S	ENSP00000347691:I130S	I	+	2	0	ZNF493	21398074	0.001000	0.12720	0.077000	0.20336	0.073000	0.16967	0.805000	0.27112	0.321000	0.23259	0.315000	0.21342	ATT		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		15	38	0	0	0	1	0	15	38				
PCDH19	57526	broad.mit.edu	37	X	99657837	99657837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99657837G>T	ENST00000373034.4	-	3	3976	c.2301C>A	c.(2299-2301)taC>taA	p.Y767*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Y720*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Y720*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	767					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCCATAGGAGTACTCAGCAA	0.438																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(2299-2301)taC>taA		protocadherin 19							115.0	95.0	101.0					X																	99657837		1895	4119	6014	SO:0001587	stop_gained	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657837G>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2301C>A	X.37:g.99657837G>T	ENSP00000362125:p.Tyr767*					PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Y720*|PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Y720*	p.Y767*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			3	3976	-			767					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Nonsense_Mutation	SNP	ENST00000373034.4	37	c.2301C>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	g	40	8.075564	0.98640	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4736	0.55801	0.0781:0.0:0.9219:0.0	.	.	.	.	X	720;767;720	.	ENSP00000255531:Y720X	Y	-	3	2	PCDH19	99544493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.394000	0.59671	2.458000	0.83093	0.519000	0.50382	TAC		0.438	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		13	18	1	0	9.31168e-06	1	1.03131e-05	13	18				
GPR98	84059	broad.mit.edu	37	5	90087050	90087050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90087050C>T	ENST00000405460.2	+	70	14500	c.14404C>T	c.(14404-14406)Cga>Tga	p.R4802*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.R463*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4802					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R4802*(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTGGGCTTCGAATATCATC	0.463																																						ENST00000405460.2																			1	Substitution - Nonsense(1)	p.R4802*(1)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(14404-14406)Cga>Tga		G protein-coupled receptor 98							52.0	50.0	50.0					5																	90087050		1989	4166	6155	SO:0001587	stop_gained	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90087050C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14404C>T	5.37:g.90087050C>T	ENSP00000384582:p.Arg4802*					GPR98_ENST00000425867.2_Nonsense_Mutation_p.R463*	p.R4802*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	70	14500	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4802					O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	c.14404C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	55	24.910598	0.99962	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	.	.	.	5.9	5.02	0.67125	.	0.565396	0.19055	N	0.123938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9875	0.80174	0.0:0.8652:0.1348:0.0	.	.	.	.	X	4802;4802;463	.	ENSP00000296619:R4802X	R	+	1	2	GPR98	90122806	0.056000	0.20664	0.011000	0.14972	0.640000	0.38277	1.045000	0.30341	1.468000	0.48064	0.655000	0.94253	CGA		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	20	0	0	0	1	0	3	20				
FAM19A4	151647	broad.mit.edu	37	3	68929922	68929922	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:68929922T>G	ENST00000295569.7	-	3	581	c.89A>C	c.(88-90)aAg>aCg	p.K30T	RNA5SP135_ENST00000517019.1_RNA	NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	30						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		GGACATCAGCTTACAGCACAC	0.507																																						ENST00000295569.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10						c.(88-90)aAg>aCg		family with sequence similarity 19 (chemokine (C-C motif)-like), member A4							97.0	90.0	92.0					3																	68929922		2203	4300	6503	SO:0001583	missense	151647					extracellular region		g.chr3:68929922T>G	AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.89A>C	3.37:g.68929922T>G	ENSP00000295569:p.Lys30Thr						p.K30T	NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)	3	581	-		Lung NSC(201;0.0198)	30					A8MVT2	Missense_Mutation	SNP	ENST00000295569.7	37	c.89A>C	CCDS2907.1	.	.	.	.	.	.	.	.	.	.	T	9.341	1.062992	0.19987	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	5.08	3.92	0.45320	.	0.769808	0.12785	N	0.439290	T	0.15522	0.0374	N	0.14661	0.345	0.26358	N	0.977095	P	0.40000	0.698	B	0.32980	0.156	T	0.07009	-1.0795	9	0.16896	T	0.51	-3.0902	10.4429	0.44477	0.0:0.0765:0.0:0.9235	.	30	Q96LR4	F19A4_HUMAN	T	30	.	ENSP00000295569:K30T	K	-	2	0	FAM19A4	69012612	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.147000	0.50639	0.791000	0.33826	0.482000	0.46254	AAG		0.507	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522		25	58	0	0	0	1	0	25	58				
MAGEB3	4114	broad.mit.edu	37	X	30254099	30254099	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30254099G>T	ENST00000361644.2	+	5	795	c.58G>T	c.(58-60)Ggt>Tgt	p.G20C		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	20										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GCAGACCCGGGGTCAGACCCA	0.517																																						ENST00000361644.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(58-60)Ggt>Tgt		melanoma antigen family B, 3							65.0	55.0	58.0					X																	30254099		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254099G>T	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.58G>T	X.37:g.30254099G>T	ENSP00000355198:p.Gly20Cys					MAGEB3_ENST00000378986.1_Missense_Mutation_p.G20C	p.G20C	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN			5	795	+			20					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.58G>T	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674176	0.29693	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.05081	3.5;3.5	3.98	-0.894	0.10563	Melanoma associated antigen, MAGE, N-terminal (1);	3.409840	0.01942	U	0.041991	T	0.14313	0.0346	L	0.41356	1.27	0.09310	N	1	D	0.71674	0.998	D	0.65443	0.935	T	0.13737	-1.0498	10	0.48119	T	0.1	.	4.1299	0.10144	0.4369:0.1743:0.3887:0.0	.	20	O15480	MAGB3_HUMAN	C	20	ENSP00000368271:G20C;ENSP00000355198:G20C	ENSP00000355198:G20C	G	+	1	0	MAGEB3	30164020	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.030000	0.13688	-0.372000	0.07992	-0.281000	0.10026	GGT		0.517	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		15	49	1	0	2.32078e-09	1	2.7896e-09	15	49				
ZMYND11	10771	broad.mit.edu	37	10	288047	288047	+	Silent	SNP	C	C	T	rs528355836		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:288047C>T	ENST00000397962.3	+	10	1346	c.918C>T	c.(916-918)gtC>gtT	p.V306V	ZMYND11_ENST00000397959.3_Silent_p.V221V|ZMYND11_ENST00000403354.1_Silent_p.V226V|ZMYND11_ENST00000381607.4_Silent_p.V212V|ZMYND11_ENST00000535374.1_Silent_p.V101V|ZMYND11_ENST00000558098.2_Silent_p.V306V|ZMYND11_ENST00000545619.1_Silent_p.V186V|ZMYND11_ENST00000309776.4_Silent_p.V266V|ZMYND11_ENST00000381591.1_Silent_p.V306V|ZMYND11_ENST00000381584.1_Silent_p.V289V|ZMYND11_ENST00000509513.2_Silent_p.V305V|ZMYND11_ENST00000381602.4_Silent_p.V266V|ZMYND11_ENST00000402736.1_Silent_p.V275V|ZMYND11_ENST00000602682.1_Silent_p.V221V|ZMYND11_ENST00000381604.4_Silent_p.V266V			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	306	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACAATCAAGTCGACGTTCGCT	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		16158	0.0		0.0	False		,,,				2504	0.001					ENST00000397962.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(916-918)gtC>gtT		zinc finger, MYND-type containing 11							164.0	154.0	157.0					10																	288047		2203	4300	6503	SO:0001819	synonymous_variant	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:288047C>T	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.918C>T	10.37:g.288047C>T						ZMYND11_ENST00000558098.2_Silent_p.V306V|ZMYND11_ENST00000397959.3_Silent_p.V221V|ZMYND11_ENST00000381584.1_Silent_p.V289V|ZMYND11_ENST00000545619.1_Silent_p.V186V|ZMYND11_ENST00000381602.4_Silent_p.V266V|ZMYND11_ENST00000602682.1_Silent_p.V221V|ZMYND11_ENST00000381604.4_Silent_p.V266V|ZMYND11_ENST00000403354.1_Silent_p.V226V|ZMYND11_ENST00000309776.4_Silent_p.V266V|ZMYND11_ENST00000535374.1_Silent_p.V101V|ZMYND11_ENST00000509513.2_Silent_p.V305V|ZMYND11_ENST00000402736.1_Silent_p.V275V|ZMYND11_ENST00000381607.4_Silent_p.V212V|ZMYND11_ENST00000381591.1_Silent_p.V306V	p.V306V			Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	10	1346	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	266					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP	ENST00000397962.3	37	c.918C>T	CCDS7052.2																																																																																				0.428	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		5	70	0	0	0	1	0	5	70				
CRHR1	1394	broad.mit.edu	37	17	43906647	43906647	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:43906647G>A	ENST00000398285.3	+	5	394	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CRHR1_ENST00000339069.5_Missense_Mutation_p.V31M|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000314537.5_Missense_Mutation_p.V132M|CRHR1_ENST00000352855.5_Missense_Mutation_p.V92M|CRHR1_ENST00000577353.1_Missense_Mutation_p.V132M	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	132					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.V132L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TATCTCCCTGGTGGCCCTCCT	0.587																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			1	Substitution - Missense(1)	p.V132L(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(394-396)Gtg>Atg		corticotropin releasing hormone receptor 1							82.0	89.0	87.0					17																	43906647		2057	4198	6255	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43906647G>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.394G>A	17.37:g.43906647G>A	ENSP00000381333:p.Val132Met					CRHR1_ENST00000339069.5_Missense_Mutation_p.V31M|CRHR1_ENST00000577353.1_Missense_Mutation_p.V132M|CRHR1_ENST00000398285.3_Missense_Mutation_p.V132M|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Missense_Mutation_p.V92M	p.V132M	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	619	+	Colorectal(2;0.0416)		132					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.394G>A	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910259	0.33721	.	.	ENSG00000120088	ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.70631	0.75;0.93;1.04;-0.5;1.04	5.43	3.37	0.38596	GPCR, family 2-like (1);	0.526411	0.20289	N	0.095288	T	0.72170	0.3427	L	0.39898	1.24	0.80722	D	1	P;B;P;D;P;P	0.58620	0.708;0.011;0.544;0.983;0.708;0.708	P;B;B;P;P;P	0.60345	0.546;0.04;0.367;0.873;0.546;0.546	T	0.69544	-0.5117	10	0.52906	T	0.07	.	8.0877	0.30782	0.0:0.1705:0.5216:0.3079	.	132;132;31;31;92;132	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	M	31;132;132;132;92	ENSP00000340522:V31M;ENSP00000381333:V132M;ENSP00000326060:V132M;ENSP00000239167:V132M;ENSP00000344068:V92M	ENSP00000326060:V132M	V	+	1	0	CRHR1	41262428	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.676000	0.46883	0.616000	0.30141	-0.311000	0.09066	GTG		0.587	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			5	29	0	0	0	1	0	5	29				
VRTN	55237	broad.mit.edu	37	14	74823942	74823942	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74823942G>A	ENST00000256362.4	+	2	697	c.456G>A	c.(454-456)acG>acA	p.T152T		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	152					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCCCGCCACGCTGGAGGCCA	0.612																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(454-456)acG>acA		vertebrae development associated							74.0	68.0	70.0					14																	74823942		2203	4300	6503	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823942G>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.456G>A	14.37:g.74823942G>A							p.T152T	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	697	+			152					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.456G>A	CCDS9830.1																																																																																				0.612	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		19	55	0	0	0	1	0	19	55				
MS4A15	219995	broad.mit.edu	37	11	60531322	60531322	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60531322T>G	ENST00000405633.3	+	2	195	c.116T>G	c.(115-117)aTt>aGt	p.I39S	MS4A15_ENST00000528170.1_Missense_Mutation_p.I39S|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	39						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CCTCCAGGGATTATGCAGTTT	0.602																																						ENST00000405633.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(115-117)aTt>aGt		membrane-spanning 4-domains, subfamily A, member 15							72.0	74.0	73.0					11																	60531322		2022	4158	6180	SO:0001583	missense	219995					integral to membrane	receptor activity	g.chr11:60531322T>G	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.116T>G	11.37:g.60531322T>G	ENSP00000386022:p.Ile39Ser					MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Missense_Mutation_p.I39S	p.I39S	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN			2	195	+			39					A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	c.116T>G	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	T	2.203	-0.382610	0.04966	.	.	ENSG00000166961	ENST00000528170;ENST00000405633	T;T	0.16597	2.33;2.89	5.21	3.86	0.44501	.	.	.	.	.	T	0.10294	0.0252	N	0.24115	0.695	0.19575	N	0.999968	B;B	0.20887	0.049;0.049	B;B	0.16722	0.016;0.016	T	0.29274	-1.0017	9	0.15499	T	0.54	-9.0747	7.5066	0.27549	0.0:0.1134:0.0:0.8866	.	39;39	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	S	39	ENSP00000434165:I39S;ENSP00000386022:I39S	ENSP00000386022:I39S	I	+	2	0	MS4A15	60287898	0.016000	0.18221	0.642000	0.29436	0.269000	0.26545	0.547000	0.23299	1.946000	0.56461	0.379000	0.24179	ATT		0.602	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			51	95	0	0	0	1	0	51	95				
CYP4Z1	199974	broad.mit.edu	37	1	47534420	47534420	+	Missense_Mutation	SNP	C	C	A	rs577489518		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:47534420C>A	ENST00000334194.3	+	2	307	c.304C>A	c.(304-306)Ctc>Atc	p.L102I		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	102						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGCCAAGATTCTCCTGAAAAG	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21884	0.0		0.0	False		,,,				2504	0.0					ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(304-306)Ctc>Atc		cytochrome P450, family 4, subfamily Z, polypeptide 1							136.0	123.0	127.0					1																	47534420		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47534420C>A	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.304C>A	1.37:g.47534420C>A	ENSP00000334246:p.Leu102Ile						p.L102I	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			2	307	+			102					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.304C>A	CCDS545.1	.	.	.	.	.	.	.	.	.	.	C	0.057	-1.232702	0.01505	.	.	ENSG00000186160	ENST00000334194	T	0.68025	-0.3	2.83	-2.73	0.05950	.	0.225556	0.26708	U	0.022914	T	0.33059	0.0850	N	0.05177	-0.1	0.09310	N	1	P	0.40144	0.704	B	0.42462	0.388	T	0.52675	-0.8544	10	0.02654	T	1	.	3.4818	0.07605	0.0:0.3968:0.2134:0.3898	.	102	Q86W10	CP4Z1_HUMAN	I	102	ENSP00000334246:L102I	ENSP00000334246:L102I	L	+	1	0	CYP4Z1	47307007	0.010000	0.17322	0.000000	0.03702	0.083000	0.17756	-0.308000	0.08156	-0.567000	0.06046	0.454000	0.30748	CTC		0.478	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		24	63	1	0	7.87624e-14	1	1.01695e-13	24	63				
ATM	472	broad.mit.edu	37	11	108235812	108235812	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108235812C>A	ENST00000452508.2	+	63	9043	c.8854C>A	c.(8854-8856)Ctt>Att	p.L2952I	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2952I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2952	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2952F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTTTAGGTCCTTCTATATGA	0.368			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		2	Substitution - Missense(2)	p.L2952F(2)	prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8854-8856)Ctt>Att	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							80.0	75.0	76.0					11																	108235812		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108235812C>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8854C>A	11.37:g.108235812C>A	ENSP00000388058:p.Leu2952Ile	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2952I|ATM_ENST00000525178.1_3'UTR	p.L2952I	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	62	9239	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2952			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8854C>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917674	0.73098	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.81996	-1.56;-1.56	5.51	5.51	0.81932	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89894	0.4039	10	0.72032	D	0.01	.	12.7706	0.57419	0.0:0.9252:0.0:0.0748	.	2952	Q13315	ATM_HUMAN	I	2952	ENSP00000278616:L2952I;ENSP00000388058:L2952I	ENSP00000278616:L2952I	L	+	1	0	ATM	107741022	1.000000	0.71417	0.964000	0.40570	0.764000	0.43329	3.196000	0.51020	2.605000	0.88082	0.650000	0.86243	CTT		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		13	22	1	0	0.000151284	1	0.00016287	13	22				
LILRP2	79166	broad.mit.edu	37	19	55221508	55221508	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55221508C>A	ENST00000413439.1	+	0	1288									leukocyte immunoglobulin-like receptor pseudogene 2																		AGGCTGGGCTCTCCCAGGCCA	0.637																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221508C>A	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221508C>A														0	1288	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.637	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		29	45	1	0	4.87955e-14	1	6.31333e-14	29	45				
ARHGEF6	9459	broad.mit.edu	37	X	135827455	135827455	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135827455T>G	ENST00000250617.6	-	4	1591	c.386A>C	c.(385-387)aAt>aCt	p.N129T	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	129					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTGAGAAGTATTAGCAGCACT	0.448																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(385-387)aAt>aCt		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							222.0	198.0	206.0					X																	135827455		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135827455T>G	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.386A>C	X.37:g.135827455T>G	ENSP00000250617:p.Asn129Thr					ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR	p.N129T	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			4	1591	-	Acute lymphoblastic leukemia(192;0.000127)		129					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.386A>C	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	T	3.991	-0.004398	0.07773	.	.	ENSG00000129675	ENST00000250617	T	0.54071	0.59	4.63	0.541	0.17168	Calponin homology domain (1);	0.904164	0.09789	N	0.755607	T	0.23014	0.0556	N	0.02011	-0.69	0.19300	N	0.999976	B	0.02656	0.0	B	0.01281	0.0	T	0.22800	-1.0206	10	0.14656	T	0.56	.	9.2213	0.37379	0.0:0.0953:0.5838:0.3209	.	129	Q15052	ARHG6_HUMAN	T	129	ENSP00000250617:N129T	ENSP00000250617:N129T	N	-	2	0	ARHGEF6	135655121	0.166000	0.22962	0.707000	0.30419	0.530000	0.34684	0.122000	0.15687	0.111000	0.17947	0.430000	0.28490	AAT		0.448	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		74	121	0	0	0	1	0	74	121				
MYO5A	4644	broad.mit.edu	37	15	52718065	52718065	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52718065G>T	ENST00000399231.3	-	4	660	c.417C>A	c.(415-417)atC>atA	p.I139I	MYO5A_ENST00000356338.6_Silent_p.I139I|MYO5A_ENST00000553916.1_Silent_p.I139I|MYO5A_ENST00000358212.6_Silent_p.I139I|MYO5A_ENST00000399233.2_Silent_p.I139I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	139	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTACTGCAAAGATATGTGGAT	0.363																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(415-417)atC>atA		myosin VA (heavy chain 12, myoxin)							119.0	108.0	111.0					15																	52718065		1849	4103	5952	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52718065G>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.417C>A	15.37:g.52718065G>T						MYO5A_ENST00000356338.6_Silent_p.I139I|MYO5A_ENST00000553916.1_Silent_p.I139I|MYO5A_ENST00000399233.2_Silent_p.I139I|MYO5A_ENST00000358212.6_Silent_p.I139I	p.I139I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	4	660	-			139			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.417C>A	CCDS42037.1																																																																																				0.363	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		20	32	1	0	4.63292e-17	1	6.19965e-17	20	32				
BPIFC	254240	broad.mit.edu	37	22	32831749	32831749	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32831749G>T	ENST00000397452.1	-	9	976	c.866C>A	c.(865-867)tCt>tAt	p.S289Y	BPIFC_ENST00000432451.2_Missense_Mutation_p.S103Y|BPIFC_ENST00000534972.1_Missense_Mutation_p.S13Y|BPIFC_ENST00000300399.3_Missense_Mutation_p.S289Y			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	289						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										AAAGGACGCAGATTTAAAGAA	0.488																																						ENST00000397452.1																			0											c.(865-867)tCt>tAt		BPI fold containing family C							81.0	82.0	82.0					22																	32831749		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32831749G>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.866C>A	22.37:g.32831749G>T	ENSP00000380594:p.Ser289Tyr					BPIFC_ENST00000300399.3_Missense_Mutation_p.S289Y|BPIFC_ENST00000432451.2_Missense_Mutation_p.S103Y|BPIFC_ENST00000534972.1_Missense_Mutation_p.S13Y	p.S289Y			Q8NFQ6	BPIL2_HUMAN			9	976	-			289					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.866C>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950553	0.73787	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.65	5.65	0.86999	.	0.056069	0.64402	D	0.000001	T	0.42268	0.1195	M	0.85373	2.75	0.45718	D	0.998622	D;D	0.65815	0.995;0.995	D;D	0.66716	0.946;0.913	T	0.40590	-0.9555	10	0.87932	D	0	-14.6897	16.6424	0.85129	0.0:0.0:1.0:0.0	.	103;289	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	Y	289;289;13;103	ENSP00000380594:S289Y;ENSP00000300399:S289Y;ENSP00000439123:S13Y;ENSP00000408920:S103Y	ENSP00000300399:S289Y	S	-	2	0	BPIFC	31161749	1.000000	0.71417	0.889000	0.34880	0.757000	0.42996	5.598000	0.67585	2.660000	0.90430	0.650000	0.86243	TCT		0.488	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		12	55	1	0	2.80697e-09	1	3.36108e-09	12	55				
PNLIPRP1	5407	broad.mit.edu	37	10	118355761	118355761	+	Silent	SNP	C	C	A	rs35466965		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118355761C>A	ENST00000528052.1	+	6	572	c.501C>A	c.(499-501)ctC>ctA	p.L167L	PNLIPRP1_ENST00000534537.1_Silent_p.L167L|PNLIPRP1_ENST00000358834.4_Silent_p.L167L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	167					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AAGTTCACCTCATTGGCCACA	0.532																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(499-501)ctC>ctA		pancreatic lipase-related protein 1							155.0	163.0	160.0					10																	118355761		2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118355761C>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.501C>A	10.37:g.118355761C>A						PNLIPRP1_ENST00000534537.1_Silent_p.L167L|PNLIPRP1_ENST00000358834.4_Silent_p.L167L	p.L167L			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	6	572	+			167					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.501C>A	CCDS7595.1																																																																																				0.532	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		68	141	1	0	7.97268e-31	1	1.13956e-30	68	141				
MYO1A	4640	broad.mit.edu	37	12	57431423	57431423	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57431423T>C	ENST00000442789.2	-	20	2251	c.1964A>G	c.(1963-1965)gAa>gGa	p.E655G	MYO1A_ENST00000300119.3_Missense_Mutation_p.E655G|MYO1A_ENST00000544473.1_Missense_Mutation_p.E493G|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	655	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCAACACCTTCCCTATGGAA	0.507																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1963-1965)gAa>gGa		myosin IA							159.0	162.0	161.0					12																	57431423		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57431423T>C	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1964A>G	12.37:g.57431423T>C	ENSP00000393392:p.Glu655Gly					MYO1A_ENST00000544473.1_Missense_Mutation_p.E493G|MYO1A_ENST00000300119.3_Missense_Mutation_p.E655G	p.E655G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			20	2251	-			655			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1964A>G	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.389223	0.42410	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.88046	-2.33;-2.33;-2.33	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.174369	0.48767	D	0.000179	D	0.84133	0.5405	M	0.64080	1.96	0.49798	D	0.999827	P	0.36354	0.549	B	0.34536	0.185	D	0.85050	0.0928	10	0.66056	D	0.02	.	11.0233	0.47730	0.0:0.0:0.0:1.0	.	655	Q9UBC5	MYO1A_HUMAN	G	655;655;493	ENSP00000300119:E655G;ENSP00000393392:E655G;ENSP00000440514:E493G	ENSP00000300119:E655G	E	-	2	0	MYO1A	55717690	0.996000	0.38824	0.995000	0.50966	0.174000	0.22865	2.488000	0.45276	1.882000	0.54519	0.482000	0.46254	GAA		0.507	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		85	157	0	0	0	1	0	85	157				
TCEAL5	340543	broad.mit.edu	37	X	102529347	102529347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102529347C>A	ENST00000372680.1	-	3	439	c.145G>T	c.(145-147)Gaa>Taa	p.E49*		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	49	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						ccctcgcattctgtcttcccc	0.512																																						ENST00000372680.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(145-147)Gaa>Taa		transcription elongation factor A (SII)-like 5							204.0	135.0	158.0					X																	102529347		2203	4300	6503	SO:0001587	stop_gained	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102529347C>A		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.145G>T	X.37:g.102529347C>A	ENSP00000361765:p.Glu49*						p.E49*	NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN			3	439	-			49			Glu-rich.		A2RUJ4	Nonsense_Mutation	SNP	ENST00000372680.1	37	c.145G>T	CCDS35356.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765074	0.96906	.	.	ENSG00000204065	ENST00000372680	.	.	.	3.02	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	4.708	0.12858	0.0:0.6813:0.0:0.3187	.	.	.	.	X	49	.	ENSP00000361765:E49X	E	-	1	0	TCEAL5	102416003	0.033000	0.19621	0.000000	0.03702	0.821000	0.46438	0.435000	0.21510	0.205000	0.20568	0.292000	0.19580	GAA		0.512	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		32	48	1	0	1.06801e-11	1	1.33247e-11	32	48				
DSN1	79980	broad.mit.edu	37	20	35399573	35399573	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:35399573T>C	ENST00000426836.1	-	3	430	c.58A>G	c.(58-60)Act>Gct	p.T20A	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000448110.2_Missense_Mutation_p.T4A|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.T20A|DSN1_ENST00000373745.3_Missense_Mutation_p.T20A	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	20					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TGATCATGAGTCTTAGACATC	0.378																																						ENST00000426836.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(58-60)Act>Gct		DSN1, MIS12 kinetochore complex component							124.0	124.0	124.0					20																	35399573		2203	4300	6503	SO:0001583	missense	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35399573T>C	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.58A>G	20.37:g.35399573T>C	ENSP00000389810:p.Thr20Ala					DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.1_Missense_Mutation_p.T4A|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.T20A|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.T20A	p.T20A	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN			3	430	-		Myeloproliferative disorder(115;0.00874)	20					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.58A>G	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.467927	0.63625	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373750;ENST00000449595;ENST00000447406	.	.	.	4.97	2.71	0.32032	.	0.575197	0.17333	N	0.178040	T	0.29850	0.0746	L	0.34521	1.04	0.26658	N	0.971961	B	0.14012	0.009	B	0.18263	0.021	T	0.25676	-1.0125	9	0.87932	D	0	-8.0176	6.2943	0.21077	0.0:0.1969:0.0:0.8031	.	20	Q9H410	DSN1_HUMAN	A	20;20;4;20;4;20	.	ENSP00000362850:T20A	T	-	1	0	DSN1	34832987	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	0.438000	0.21559	0.383000	0.24910	0.533000	0.62120	ACT		0.378	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		47	93	0	0	0	1	0	47	93				
ZNF101	94039	broad.mit.edu	37	19	19790391	19790391	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19790391A>C	ENST00000592502.1	+	4	703	c.593A>C	c.(592-594)aAa>aCa	p.K198T	ZNF101_ENST00000415784.2_Missense_Mutation_p.K78T|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AGGTCCTATAAATGTAGGGAA	0.383																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(592-594)aAa>aCa		zinc finger protein 101							72.0	79.0	76.0					19																	19790391		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790391A>C	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.593A>C	19.37:g.19790391A>C	ENSP00000468049:p.Lys198Thr					ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.K78T	p.K198T			Q8IZC7	ZN101_HUMAN			4	703	+			198					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.593A>C	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	A	6.270	0.417927	0.11870	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.07114	3.22;3.22	0.235	0.235	0.15431	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	L	0.48877	1.53	0.21740	N	0.999564	P	0.47409	0.895	B	0.38056	0.264	T	0.32534	-0.9903	8	.	.	.	.	3.0351	0.06119	0.5244:0.4753:1.0E-4:2.0E-4	.	198	Q8IZC7	ZN101_HUMAN	T	198;198;78	ENSP00000319716:K198T;ENSP00000400952:K78T	.	K	+	2	0	ZNF101	19651391	0.000000	0.05858	0.161000	0.22692	0.160000	0.22226	-0.092000	0.11129	0.263000	0.21812	0.260000	0.18958	AAA		0.383	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		30	46	0	0	0	1	0	30	46				
TAB3	257397	broad.mit.edu	37	X	30872825	30872825	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30872825G>T	ENST00000378933.1	-	3	1134	c.957C>A	c.(955-957)atC>atA	p.I319I	TAB3_ENST00000288422.2_Silent_p.I319I|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Silent_p.I319I|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Silent_p.I319I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	319	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|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 NF-kappaB transcription factor activity (GO:0051092)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTGGCATAAAGATGTGGCCCA	0.493																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(955-957)atC>atA		TGF-beta activated kinase 1/MAP3K7 binding protein 3							150.0	114.0	126.0					X																	30872825		2202	4300	6502	SO:0001819	synonymous_variant	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872825G>T	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.957C>A	X.37:g.30872825G>T						TAB3_ENST00000378932.2_Silent_p.I319I|TAB3_ENST00000378930.3_Silent_p.I319I|TAB3_ENST00000288422.2_Silent_p.I319I	p.I319I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	1134	-			319			Pro-rich.		A6NDD9|Q6VQR0	Silent	SNP	ENST00000378933.1	37	c.957C>A	CCDS14226.1																																																																																				0.493	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		11	49	1	0	3.86212e-05	1	4.21111e-05	11	49				
SLC12A4	6560	broad.mit.edu	37	16	67991677	67991677	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67991677A>G	ENST00000316341.3	-	5	652	c.512T>C	c.(511-513)aTg>aCg	p.M171T	SLC12A4_ENST00000338335.3_Missense_Mutation_p.M171T|SLC12A4_ENST00000541864.2_Missense_Mutation_p.M140T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.M123T|SLC12A4_ENST00000422611.2_Missense_Mutation_p.M173T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.M165T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.M171T|SLC12A4_ENST00000572010.1_5'UTR	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	171					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GATGGCACTCATGGAGATGGC	0.647																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(517-519)aTg>aCg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						109.0	95.0	99.0					16																	67991677		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67991677A>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.512T>C	16.37:g.67991677A>G	ENSP00000318557:p.Met171Thr					SLC12A4_ENST00000572037.1_Missense_Mutation_p.M123T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.M171T|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000316341.3_Missense_Mutation_p.M171T|SLC12A4_ENST00000541864.2_Missense_Mutation_p.M140T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.M165T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.M171T	p.M173T	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	4	557	-		Ovarian(137;0.192)	171					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.518T>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789420	0.70337	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02	4.97	4.97	0.65823	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.71871	2.18	0.80722	D	1	P;D;P;P;D;P;D	0.61697	0.833;0.99;0.913;0.929;0.987;0.809;0.99	P;D;B;P;P;P;D	0.64877	0.69;0.93;0.431;0.566;0.848;0.615;0.93	D	0.98498	1.0613	10	0.31617	T	0.26	.	14.9501	0.71067	1.0:0.0:0.0:0.0	.	173;171;140;123;165;171;171	F5H3C0;B4DF30;F5H066;B4DF69;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;.;S12A4_HUMAN	T	173;140;165;171;171	ENSP00000395983:M173T;ENSP00000438334:M140T;ENSP00000445962:M165T;ENSP00000343374:M171T;ENSP00000318557:M171T	ENSP00000318557:M171T	M	-	2	0	SLC12A4	66549178	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.287000	0.95975	1.998000	0.58463	0.482000	0.46254	ATG		0.647	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		18	29	0	0	0	1	0	18	29				
PDE6A	5145	broad.mit.edu	37	5	149264383	149264383	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149264383C>A	ENST00000255266.5	-	15	2005	c.1886G>T	c.(1885-1887)aGa>aTa	p.R629I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	629					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CAAGTGGTGTCTTTCCAAGAT	0.502																																						ENST00000255266.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(1885-1887)aGa>aTa		phosphodiesterase 6A, cGMP-specific, rod, alpha							101.0	98.0	99.0					5																	149264383		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149264383C>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1886G>T	5.37:g.149264383C>A	ENSP00000255266:p.Arg629Ile						p.R629I	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		15	2005	-			629					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1886G>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289984	0.95546	.	.	ENSG00000132915	ENST00000255266	D	0.83591	-1.74	5.42	5.42	0.78866	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92061	0.7484	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.92959	0.6387	10	0.72032	D	0.01	.	17.0655	0.86558	0.0:1.0:0.0:0.0	.	629	P16499	PDE6A_HUMAN	I	629	ENSP00000255266:R629I	ENSP00000255266:R629I	R	-	2	0	PDE6A	149244576	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.011000	0.76359	2.705000	0.92388	0.557000	0.71058	AGA		0.502	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			19	35	1	0	1.01871e-10	1	1.25646e-10	19	35				
IL16	3603	broad.mit.edu	37	15	81598795	81598795	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:81598795G>T	ENST00000302987.4	+	17	3714	c.3714G>T	c.(3712-3714)gaG>gaT	p.E1238D	IL16_ENST00000394660.2_Missense_Mutation_p.E1237D|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.E537D			Q14005	IL16_HUMAN	interleukin 16	1238	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGACACTGGAGAAGATGTCGG	0.567																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(3709-3711)gaG>gaT		interleukin 16							133.0	134.0	134.0					15																	81598795		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598795G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3714G>T	15.37:g.81598795G>T	ENSP00000302935:p.Glu1238Asp					IL16_ENST00000302987.4_Missense_Mutation_p.E1238D|IL16_ENST00000394652.2_Missense_Mutation_p.E537D|RP11-761I4.4_ENST00000607019.1_RNA	p.E1237D	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			18	4071	+			1238			PDZ 4.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3711G>T	CCDS42069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.02|12.02	1.811155|1.811155	0.32053|0.32053	.|.	.|.	ENSG00000172349|ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652|ENST00000394656	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	4.2|4.2	-0.0727|-0.0727	0.13738|0.13738	PDZ/DHR/GLGF (3);|.	0.000000|0.000000	0.44483|0.44483	D|D	0.000448|0.000448	T|.	0.51363|.	0.1670|.	M|M	0.65677|0.65677	2.01|2.01	0.34657|0.34657	D|D	0.722281|0.722281	B;B;D;B;B|.	0.69078|.	0.248;0.292;0.997;0.059;0.019|.	P;B;D;B;B|.	0.72625|.	0.462;0.267;0.978;0.413;0.113|.	T|.	0.54536|.	-0.8279|.	10|.	0.33940|0.29301	T|T	0.23|0.29	.|.	5.8724|5.8724	0.18810|0.18810	0.2645:0.4026:0.3328:0.0|0.2645:0.4026:0.3328:0.0	.|.	1069;730;627;1238;1237|.	F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2|.	.;.;.;IL16_HUMAN;.|.	D|X	1237;1069;1238;627;537|536	ENSP00000378155:E1237D;ENSP00000302935:E1238D;ENSP00000378147:E537D|.	ENSP00000302935:E1238D|ENSP00000378151:E536X	E|E	+|+	3|1	2|0	IL16|IL16	79385850|79385850	0.976000|0.976000	0.34144|0.34144	0.990000|0.990000	0.47175|0.47175	0.858000|0.858000	0.48976|0.48976	0.304000|0.304000	0.19228|0.19228	0.109000|0.109000	0.17891|0.17891	0.561000|0.561000	0.74099|0.74099	GAG|GAA		0.567	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		57	122	1	0	1.17673e-23	1	1.64719e-23	57	122				
OR1S1	219959	broad.mit.edu	37	11	57982748	57982748	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57982748C>A	ENST00000309433.6	+	1	532	c.532C>A	c.(532-534)Caa>Aaa	p.Q178K		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	178						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(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTGCTCATTCAATTGCTCTT	0.448																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(532-534)Caa>Aaa		olfactory receptor, family 1, subfamily S, member 1							214.0	181.0	192.0					11																	57982748		2201	4294	6495	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982748C>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.532C>A	11.37:g.57982748C>A	ENSP00000311688:p.Gln178Lys						p.Q178K	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	532	+		Breast(21;0.0589)	178					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.532C>A	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	C	5.691	0.312039	0.10789	.	.	ENSG00000172774	ENST00000309433	T	0.00063	8.78	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	1.034290	0.07761	N	0.950035	T	0.00144	0.0004	L	0.42581	1.335	0.09310	N	1	B	0.29232	0.238	B	0.30716	0.119	T	0.35773	-0.9775	10	0.56958	D	0.05	.	4.2492	0.10686	0.2281:0.6498:0.0:0.1221	.	178	Q8NH92	OR1S1_HUMAN	K	178	ENSP00000311688:Q178K	ENSP00000311688:Q178K	Q	+	1	0	OR1S1	57739324	0.000000	0.05858	0.005000	0.12908	0.254000	0.26022	-0.823000	0.04443	1.770000	0.52166	0.479000	0.44913	CAA		0.448	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		27	63	1	0	7.63505e-26	1	1.07707e-25	27	63				
FAM221A	340277	broad.mit.edu	37	7	23740474	23740474	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23740474G>T	ENST00000344962.4	+	6	904	c.815G>T	c.(814-816)cGa>cTa	p.R272L	FAM221A_ENST00000409653.1_Missense_Mutation_p.R214L|FAM221A_ENST00000409192.3_Missense_Mutation_p.R236L|FAM221A_ENST00000483090.1_3'UTR|FAM221A_ENST00000409994.3_Missense_Mutation_p.R178L	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	272																	TTTGAAAGACGATACCAGGAA	0.348																																						ENST00000344962.4																			0											c.(814-816)cGa>cTa		family with sequence similarity 221, member A							145.0	165.0	158.0					7																	23740474		2203	4299	6502	SO:0001583	missense	340277							g.chr7:23740474G>T		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.815G>T	7.37:g.23740474G>T	ENSP00000342576:p.Arg272Leu					FAM221A_ENST00000483090.1_3'UTR|FAM221A_ENST00000409994.3_Missense_Mutation_p.R178L|FAM221A_ENST00000409653.1_Missense_Mutation_p.R214L|FAM221A_ENST00000409192.3_Missense_Mutation_p.R236L	p.R272L	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN			6	904	+			272					Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	c.815G>T	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868717	0.72065	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	T;T;T;T	0.23348	1.91;2.15;2.14;1.95	6.01	3.21	0.36854	.	0.160446	0.41712	D	0.000828	T	0.39733	0.1089	M	0.75264	2.295	0.34925	D	0.748798	P;P;D	0.67145	0.841;0.943;0.996	B;P;P	0.54706	0.372;0.67;0.759	T	0.54774	-0.8243	10	0.87932	D	0	-3.2261	8.7044	0.34345	0.2972:0.0:0.7028:0.0	.	178;236;272	A4D161-3;A4D161-2;A4D161	.;.;CG046_HUMAN	L	236;272;214;178	ENSP00000386927:R236L;ENSP00000342576:R272L;ENSP00000386900:R214L;ENSP00000386631:R178L	ENSP00000342576:R272L	R	+	2	0	C7orf46	23706999	0.554000	0.26522	0.997000	0.53966	0.952000	0.60782	0.859000	0.27858	0.417000	0.25871	-0.142000	0.14014	CGA		0.348	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		39	68	1	0	6.57855e-14	1	8.50372e-14	39	68				
ZPR1	8882	broad.mit.edu	37	11	116649650	116649650	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:116649650C>T	ENST00000227322.3	-	14	1430	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		457					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GCTACCGTTGCGGAGCCAGGC	0.532																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1369-1371)ccG>ccA		zinc finger protein 259							111.0	85.0	94.0					11																	116649650		2201	4296	6497	SO:0001819	synonymous_variant	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116649650C>T																												ENST00000227322.3:c.1371G>A	11.37:g.116649650C>T							p.P457P	NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	14	1430	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	457					Q2TAA0	Silent	SNP	ENST00000227322.3	37	c.1371G>A	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.920|1.920	-0.448668|-0.448668	0.04572|0.04572	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000429220|ENST00000444935	.|.	.|.	.|.	5.53|5.53	-6.69|-6.69	0.01772|0.01772	.|.	.|.	.|.	.|.	.|.	T|T	0.30008|0.30008	0.0751|0.0751	.|.	.|.	.|.	0.31696|0.31696	N|N	0.641216|0.641216	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42498|0.42498	-0.9448|-0.9448	4|4	.|.	.|.	.|.	-0.0298|-0.0298	5.3325|5.3325	0.15940|0.15940	0.0946:0.4279:0.2987:0.1788|0.0946:0.4279:0.2987:0.1788	.|.	.|.	.|.	.|.	T|H	384|428	.|.	.|.	A|R	-|-	1|2	0|0	ZNF259|ZNF259	116154860|116154860	0.475000|0.475000	0.25894|0.25894	0.202000|0.202000	0.23494|0.23494	0.331000|0.331000	0.28603|0.28603	-0.667000|-0.667000	0.05274|0.05274	-0.709000|-0.709000	0.05008|0.05008	-0.295000|-0.295000	0.09555|0.09555	GCA|CGC		0.532	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			17	26	0	0	0	1	0	17	26				
CNBD1	168975	broad.mit.edu	37	8	88249206	88249206	+	Missense_Mutation	SNP	G	G	T	rs370736889		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:88249206G>T	ENST00000518476.1	+	6	688	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	213										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCAAACAAACGTGTATAAAAA	0.363																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(637-639)Gtg>Ttg		cyclic nucleotide binding domain containing 1							145.0	130.0	135.0					8																	88249206		1841	4086	5927	SO:0001583	missense	168975							g.chr8:88249206G>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.637G>T	8.37:g.88249206G>T	ENSP00000430073:p.Val213Leu					CNBD1_ENST00000522427.1_3'UTR	p.V213L	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			6	688	+			213						Missense_Mutation	SNP	ENST00000518476.1	37	c.637G>T	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775874	0.16051	.	.	ENSG00000176571	ENST00000518476	T	0.18338	2.22	4.29	-5.38	0.02673	Cyclic nucleotide-binding-like (1);	3.063890	0.01246	N	0.008756	T	0.11495	0.0280	L	0.46157	1.445	0.09310	N	1	B	0.22414	0.069	B	0.19946	0.027	T	0.23297	-1.0192	10	0.09590	T	0.72	0.0	1.8449	0.03157	0.4471:0.2469:0.181:0.125	.	213	Q8NA66	CNBD1_HUMAN	L	213	ENSP00000430073:V213L	ENSP00000430073:V213L	V	+	1	0	CNBD1	88318322	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.972000	0.01502	-1.289000	0.02375	-0.176000	0.13171	GTG		0.363	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		18	49	1	0	1.33834e-09	1	1.61283e-09	18	49				
ZNF639	51193	broad.mit.edu	37	3	179051980	179051980	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179051980A>G	ENST00000326361.3	+	7	1673	c.1228A>G	c.(1228-1230)Aaa>Gaa	p.K410E	ZNF639_ENST00000496856.1_Missense_Mutation_p.K410E|ZNF639_ENST00000484866.1_Missense_Mutation_p.K410E	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	410	Interaction with CTNNA2.				negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGACTGTGGGAAAGGCTTTTC	0.323																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(1228-1230)Aaa>Gaa		zinc finger protein 639							95.0	99.0	98.0					3																	179051980		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051980A>G	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1228A>G	3.37:g.179051980A>G	ENSP00000325634:p.Lys410Glu					ZNF639_ENST00000496856.1_Missense_Mutation_p.K410E|ZNF639_ENST00000484866.1_Missense_Mutation_p.K410E	p.K410E	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	1673	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		410			Interaction with CTNNA2.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.1228A>G	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.486289	0.44147	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.27104	1.69;1.69;1.69	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.50086	0.1595	M	0.76002	2.32	0.36500	D	0.86892	D	0.65815	0.995	D	0.64410	0.925	T	0.57711	-0.7764	10	0.41790	T	0.15	.	16.3971	0.83610	1.0:0.0:0.0:0.0	.	410	Q9UID6	ZN639_HUMAN	E	410	ENSP00000417740:K410E;ENSP00000325634:K410E;ENSP00000418766:K410E	ENSP00000325634:K410E	K	+	1	0	ZNF639	180534674	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.664000	0.61540	2.330000	0.79161	0.533000	0.62120	AAA		0.323	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		7	85	0	0	0	1	0	7	85				
RYR1	6261	broad.mit.edu	37	19	38990408	38990408	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38990408C>T	ENST00000359596.3	+	44	7161	c.7161C>T	c.(7159-7161)tcC>tcT	p.S2387S	RYR1_ENST00000355481.4_Silent_p.S2387S|RYR1_ENST00000360985.3_Silent_p.S2387S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2387	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCGCATCTCCGAGGACCCTG	0.706																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7159-7161)tcC>tcT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						25.0	23.0	24.0					19																	38990408		2202	4297	6499	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990408C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7161C>T	19.37:g.38990408C>T						RYR1_ENST00000360985.3_Silent_p.S2387S|RYR1_ENST00000359596.3_Silent_p.S2387S	p.S2387S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7292	+	all_cancers(60;7.91e-06)		2387			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.7161C>T	CCDS33011.1																																																																																				0.706	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	21	0	0	0	1	0	9	21				
DNAH5	1767	broad.mit.edu	37	5	13753382	13753382	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13753382T>C	ENST00000265104.4	-	63	10936	c.10832A>G	c.(10831-10833)aAg>aGg	p.K3611R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3611	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATCCAGATCTTGCCTTGAGT	0.368									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10831-10833)aAg>aGg		dynein, axonemal, heavy chain 5							85.0	79.0	81.0					5																	13753382		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753382T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10832A>G	5.37:g.13753382T>C	ENSP00000265104:p.Lys3611Arg						p.K3611R	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			63	10936	-	Lung NSC(4;0.00476)		3611			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10832A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.964568	0.92791	.	.	ENSG00000039139	ENST00000265104	T	0.21734	1.99	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	M	0.67517	2.055	0.80722	D	1	P	0.49253	0.921	P	0.61328	0.887	T	0.10042	-1.0647	10	0.20046	T	0.44	.	16.1327	0.81454	0.0:0.0:0.0:1.0	.	3611	Q8TE73	DYH5_HUMAN	R	3611	ENSP00000265104:K3611R	ENSP00000265104:K3611R	K	-	2	0	DNAH5	13806382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.269000	0.75478	0.454000	0.30748	AAG		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		21	38	0	0	0	1	0	21	38				
CSMD2	114784	broad.mit.edu	37	1	34166245	34166245	+	Missense_Mutation	SNP	C	C	T	rs201989989		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:34166245C>T	ENST00000373380.1	-	2	444	c.224G>A	c.(223-225)cGt>cAt	p.R75H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1202H			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1162	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCAGCAAACGGGCGGAGTT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20624	0.0		0.001	False		,,,				2504	0.0					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3604-3606)cGt>cAt		CUB and Sushi multiple domains 2		C	HIS/ARG	0,4406		0,0,2203	99.0	86.0	90.0		3485	5.5	1.0	1		90	2,8598	2.2+/-6.3	0,2,4298	no	missense	CSMD2	NM_052896.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1162/3488	34166245	2,13004	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34166245C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.224G>A	1.37:g.34166245C>T	ENSP00000362478:p.Arg75His					CSMD2_ENST00000373380.1_Missense_Mutation_p.R75H|CSMD2_ENST00000373388.2_5'UTR	p.R1202H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			23	3781	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1162			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3605G>A		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.82	3.482787	0.63962	0.0	2.33E-4	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.29397	1.57;1.57	5.48	5.48	0.80851	CUB (5);	0.060371	0.64402	D	0.000002	T	0.44477	0.1295	L	0.49126	1.545	0.80722	D	1	D;P;B	0.60160	0.987;0.838;0.404	P;B;B	0.59487	0.858;0.382;0.248	T	0.08411	-1.0723	10	0.12103	T	0.63	.	18.2651	0.90050	0.0:1.0:0.0:0.0	.	75;1162;1202	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	1202;75	ENSP00000362479:R1202H;ENSP00000362478:R75H	ENSP00000241312:R1162H	R	-	2	0	CSMD2	33938832	1.000000	0.71417	0.991000	0.47740	0.562000	0.35680	7.776000	0.85560	2.738000	0.93877	0.591000	0.81541	CGT		0.498	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		26	51	0	0	0	1	0	26	51				
TXNDC16	57544	broad.mit.edu	37	14	52949572	52949572	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:52949572G>A	ENST00000281741.4	-	13	1591	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	407	Thioredoxin.				cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GCTGTCAGAAGCCATCACTGT	0.368																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(1219-1221)gCt>gTt		thioredoxin domain containing 16							126.0	110.0	115.0					14																	52949572		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52949572G>A	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1220C>T	14.37:g.52949572G>A	ENSP00000281741:p.Ala407Val					TXNDC16_ENST00000554399.1_Intron	p.A407V	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			13	1591	-	Breast(41;0.0716)		407			Thioredoxin.		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1220C>T	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710595	0.48517	.	.	ENSG00000087301	ENST00000281741	T	0.39787	1.06	5.19	5.19	0.71726	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.506973	0.22822	N	0.055205	T	0.39682	0.1087	L	0.42245	1.32	0.31295	N	0.688979	P;P	0.40534	0.72;0.714	B;B	0.40782	0.334;0.34	T	0.44726	-0.9309	10	0.31617	T	0.26	-31.1632	16.2058	0.82131	0.0:0.0:1.0:0.0	.	402;407	B7ZME4;Q9P2K2	.;TXD16_HUMAN	V	407	ENSP00000281741:A407V	ENSP00000281741:A407V	A	-	2	0	TXNDC16	52019322	1.000000	0.71417	0.997000	0.53966	0.526000	0.34562	4.622000	0.61240	2.426000	0.82243	0.460000	0.39030	GCT		0.368	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		9	12	0	0	0	1	0	9	12				
SRSF1	6426	broad.mit.edu	37	17	56084470	56084470	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56084470G>A	ENST00000258962.4	-	1	237	c.29C>T	c.(28-30)cCc>cTc	p.P10L	SRSF1_ENST00000582730.2_Missense_Mutation_p.P10L|SRSF1_ENST00000585096.1_Missense_Mutation_p.P10L|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.P10L|SRSF1_ENST00000581497.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	10					cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCCCTGCGGGGCCACGAAT	0.597																																						ENST00000582730.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(28-30)cCc>cTc		serine/arginine-rich splicing factor 1							171.0	129.0	143.0					17																	56084470		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56084470G>A		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.29C>T	17.37:g.56084470G>A	ENSP00000258962:p.Pro10Leu					SRSF1_ENST00000585096.1_Missense_Mutation_p.P10L|SRSF1_ENST00000584773.1_Missense_Mutation_p.P10L|SRSF1_ENST00000258962.4_Missense_Mutation_p.P10L	p.P10L	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN			1	152	-			10					B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.29C>T	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291704	0.59976	.	.	ENSG00000136450	ENST00000258962	T	0.19105	2.17	5.98	5.98	0.97165	.	0.061019	0.64402	D	0.000003	T	0.41119	0.1145	L	0.57536	1.79	0.80722	D	1	P;D	0.76494	0.947;0.999	P;P	0.58520	0.466;0.84	T	0.03202	-1.1061	10	0.52906	T	0.07	.	19.2211	0.93797	0.0:0.0:1.0:0.0	.	42;10	Q59FA2;Q07955	.;SRSF1_HUMAN	L	10	ENSP00000258962:P10L	ENSP00000258962:P10L	P	-	2	0	SRSF1	53439469	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.801000	0.91905	2.838000	0.97847	0.563000	0.77884	CCC		0.597	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		7	80	0	0	0	1	0	7	80				
TRBV30	28557	broad.mit.edu	37	7	142511022	142511022	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142511022C>A	ENST00000417977.2	-	0	62									T cell receptor beta variable 30 (gene/pseudogene)																		GACGCCTCCTCTTCTGGGCCA	0.582																																						ENST00000417977.2																			0																				42.0	58.0	52.0					7																	142511022		1118	2188	3306			0							g.chr7:142511022C>A	L36092		7q34	2012-02-07	2008-09-12		ENSG00000237254	ENSG00000237254		"""T cell receptors / TRB locus"""	12214	other	T cell receptor gene			"""T cell receptor beta variable 30"""			8650574	Standard	NG_001333		Approved	TCRBV20S1A1N2, TCRBV30S1			OTTHUMG00000158907		7.37:g.142511022C>A														0	62	-									RNA	SNP	ENST00000417977.2	37																																																																																						0.582	TRBV30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352519.1	NG_001333		4	5	1	0	0.00909568	1	0.00935351	4	5				
FAM214A	56204	broad.mit.edu	37	15	52897382	52897382	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52897382G>A	ENST00000261844.7	-	7	2560	c.2408C>T	c.(2407-2409)aCt>aTt	p.T803I	FAM214A_ENST00000546305.2_Missense_Mutation_p.T810I	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	803																	TCTGGTTGAAGTTCCATCCAA	0.338																																						ENST00000261844.7																			0											c.(2407-2409)aCt>aTt		family with sequence similarity 214, member A							159.0	162.0	161.0					15																	52897382		1840	4094	5934	SO:0001583	missense	56204							g.chr15:52897382G>A	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.2408C>T	15.37:g.52897382G>A	ENSP00000261844:p.Thr803Ile					FAM214A_ENST00000546305.2_Missense_Mutation_p.T810I	p.T803I	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			7	2560	-			803					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.2408C>T	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.874087	0.33069	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.36157	1.27;1.27	5.06	2.6	0.31112	.	0.193557	0.53938	N	0.000043	T	0.20007	0.0481	N	0.16307	0.4	0.48975	D	0.999734	B;B	0.14438	0.01;0.006	B;B	0.20767	0.031;0.014	T	0.04723	-1.0931	10	0.38643	T	0.18	.	6.0658	0.19862	0.1964:0.1426:0.6609:0.0	.	810;803	F5H8G0;Q32MH5	.;K1370_HUMAN	I	803;803;802;810	ENSP00000261844:T803I;ENSP00000443598:T810I	ENSP00000261844:T803I	T	-	2	0	KIAA1370	50684674	1.000000	0.71417	0.914000	0.36105	0.996000	0.88848	4.121000	0.57904	0.336000	0.23639	0.650000	0.86243	ACT		0.338	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		6	103	0	0	0	1	0	6	103				
HECW2	57520	broad.mit.edu	37	2	197208479	197208479	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197208479G>T	ENST00000260983.3	-	3	484	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	101					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTTGGCTGGAGAATTCTCATC	0.378																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(301-303)tCt>tAt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							117.0	130.0	125.0					2																	197208479		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197208479G>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.302C>A	2.37:g.197208479G>T	ENSP00000260983:p.Ser101Tyr					HECW2_ENST00000409111.1_5'UTR	p.S101Y	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			3	484	-			101					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.302C>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156538	0.57259	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.38560	1.13;1.13;1.13	6.06	6.06	0.98353	.	0.119735	0.64402	D	0.000019	T	0.46698	0.1406	L	0.40543	1.245	0.40731	D	0.982748	D	0.52996	0.957	P	0.53035	0.716	T	0.39210	-0.9625	10	0.51188	T	0.08	.	12.6846	0.56940	0.0759:0.0:0.9241:0.0	.	101	Q9P2P5	HECW2_HUMAN	Y	101	ENSP00000260983:S101Y;ENSP00000409918:S101Y;ENSP00000395770:S101Y	ENSP00000260983:S101Y	S	-	2	0	HECW2	196916724	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.516000	0.67055	2.882000	0.98803	0.655000	0.94253	TCT		0.378	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		57	77	1	0	2.17126e-26	1	3.07221e-26	57	77				
BAGE2	85319	broad.mit.edu	37	21	11039109	11039109	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:11039109C>A	ENST00000470054.1	-	0	1094							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTAGCCTTTCTATAACCAAC	0.398																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039109C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039109C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1094	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.398	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		14	228	1	0	0.000151284	1	0.00016287	14	228				
MACF1	23499	broad.mit.edu	37	1	39798397	39798397	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39798397C>A	ENST00000372915.3	+	36	6239	c.6152C>A	c.(6151-6153)tCt>tAt	p.S2051Y	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2083Y|MACF1_ENST00000564288.1_Missense_Mutation_p.S2046Y|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S486Y|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2051					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTTTTCTTCTCAGAACAAA	0.433																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6136-6138)tCt>tAt		microtubule-actin crosslinking factor 1							73.0	75.0	74.0					1																	39798397		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798397C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6152C>A	1.37:g.39798397C>A	ENSP00000362006:p.Ser2051Tyr					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S2051Y|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S486Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S2083Y	p.S2046Y			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	6914	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2051					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6137C>A		.	.	.	.	.	.	.	.	.	.	C	4.481	0.089145	0.08583	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.65364	-0.15;0.89	5.78	3.9	0.45041	.	0.304601	0.25668	N	0.029095	T	0.43942	0.1270	N	0.19112	0.55	0.09310	N	0.999996	B	0.26318	0.146	B	0.21360	0.034	T	0.36359	-0.9751	10	0.44086	T	0.13	.	10.0895	0.42439	0.0:0.7362:0.0:0.2638	.	2051	Q9UPN3	MACF1_HUMAN	Y	2051;486	ENSP00000362006:S2051Y;ENSP00000289893:S486Y	ENSP00000289893:S486Y	S	+	2	0	MACF1	39570984	0.000000	0.05858	0.914000	0.36105	0.900000	0.52787	0.156000	0.16382	1.455000	0.47813	0.555000	0.69702	TCT		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	59	1	0	5.01169e-05	1	5.45927e-05	18	59				
IPMK	253430	broad.mit.edu	37	10	59955838	59955838	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:59955838C>A	ENST00000373935.3	-	6	1572	c.1250G>T	c.(1249-1251)tGa>tTa	p.*417L		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	0					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ACAGAGGATTCAATTGTCTAA	0.353																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(1249-1251)tGa>tTa		inositol polyphosphate multikinase							56.0	60.0	59.0					10																	59955838		2202	4296	6498	SO:0001578	stop_lost	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59955838C>A	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.1250G>T	10.37:g.59955838C>A							p.*417L	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN			6	1572	-			0						Nonstop_Mutation	SNP	ENST00000373935.3	37	c.1250G>T	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	C	9.381	1.073102	0.20147	.	.	ENSG00000151151	ENST00000373935	.	.	.	6.07	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9652	0.19320	0.0:0.7513:0.0:0.2487	.	.	.	.	L	417	.	.	X	-	2	2	IPMK	59625844	1.000000	0.71417	0.990000	0.47175	0.668000	0.39293	1.552000	0.36244	1.588000	0.49971	0.585000	0.79938	TGA		0.353	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		24	55	1	0	2.79863e-10	1	3.42475e-10	24	55				
CEP55	55165	broad.mit.edu	37	10	95262876	95262876	+	Nonsense_Mutation	SNP	C	C	T	rs146596670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95262876C>T	ENST00000371485.3	+	3	494	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	64					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				CTAGAAAATTCGAGTCCTTGA	0.368																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(190-192)Cga>Tga		centrosomal protein 55kDa		C	stop/ARG,stop/ARG	0,4406		0,0,2203	63.0	62.0	62.0		190,190	5.3	1.0	10	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	CEP55	NM_001127182.1,NM_018131.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	64/465,64/465	95262876	1,13005	2203	4300	6503	SO:0001587	stop_gained	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95262876C>T	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.190C>T	10.37:g.95262876C>T	ENSP00000360540:p.Arg64*						p.R64*	NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN			3	494	+		Colorectal(252;0.207)	64					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Nonsense_Mutation	SNP	ENST00000371485.3	37	c.190C>T	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	C	39	7.559771	0.98358	0.0	1.16E-4	ENSG00000138180	ENST00000371485;ENST00000358339	.	.	.	5.28	5.28	0.74379	.	0.293519	0.33217	N	0.005156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-0.8008	17.0383	0.86482	0.0:1.0:0.0:0.0	.	.	.	.	X	64	.	ENSP00000351102:R64X	R	+	1	2	CEP55	95252866	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.094000	0.41719	2.611000	0.88343	0.591000	0.81541	CGA		0.368	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		19	22	0	0	0	1	0	19	22				
CYP2C9	1559	broad.mit.edu	37	10	96708977	96708977	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96708977A>C	ENST00000260682.6	+	5	767	c.755A>C	c.(754-756)cAa>cCa	p.Q252P		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	252					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAAGAACACCAAGAATCAATG	0.328																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(754-756)cAa>cCa		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						85.0	87.0	87.0					10																	96708977		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96708977A>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.755A>C	10.37:g.96708977A>C	ENSP00000260682:p.Gln252Pro						p.Q252P	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	5	767	+		Colorectal(252;0.0902)	252					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.755A>C	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.080017	0.76528	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69561	-0.41	3.29	3.29	0.37713	.	0.278902	0.29239	U	0.012738	T	0.80008	0.4545	M	0.89287	3.02	0.35196	D	0.773804	P;P	0.49358	0.923;0.923	P;P	0.58780	0.845;0.845	D	0.86661	0.1904	10	0.87932	D	0	.	9.8769	0.41209	1.0:0.0:0.0:0.0	.	252;252	Q5VX92;P11712	.;CP2C9_HUMAN	P	252	ENSP00000260682:Q252P	ENSP00000260682:Q252P	Q	+	2	0	CYP2C9	96698967	0.287000	0.24315	0.072000	0.20136	0.720000	0.41350	4.374000	0.59543	1.501000	0.48654	0.402000	0.26972	CAA		0.328	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		5	56	0	0	0	1	0	5	56				
KDR	3791	broad.mit.edu	37	4	55946184	55946184	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55946184A>C	ENST00000263923.4	-	30	4290	c.3995T>G	c.(3994-3996)aTt>aGt	p.I1332S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1332					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGCACTCCAATCTCTATCAG	0.522			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3994-3996)aTt>aGt		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						223.0	208.0	213.0					4																	55946184		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55946184A>C	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3995T>G	4.37:g.55946184A>C	ENSP00000263923:p.Ile1332Ser	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.I1332S	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		30	4290	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1332					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3995T>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.959381	0.00465	.	.	ENSG00000128052	ENST00000263923	T	0.74842	-0.88	5.62	-5.41	0.02648	.	1.661580	0.03138	N	0.166149	T	0.46054	0.1373	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	10	0.09590	T	0.72	.	8.2607	0.31783	0.1604:0.1165:0.6186:0.1045	.	1332	P35968	VGFR2_HUMAN	S	1332	ENSP00000263923:I1332S	ENSP00000263923:I1332S	I	-	2	0	KDR	55640941	0.970000	0.33590	0.009000	0.14445	0.002000	0.02628	0.533000	0.23082	-0.539000	0.06273	-1.007000	0.02485	ATT		0.522	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			44	82	0	0	0	1	0	44	82				
VN1R1	57191	broad.mit.edu	37	19	57967372	57967372	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57967372C>A	ENST00000321039.3	-	1	482	c.483G>T	c.(481-483)aaG>aaT	p.K161N	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	161					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GGGATCTAATCTTGATCTCCA	0.483																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(481-483)aaG>aaT		vomeronasal 1 receptor 1							101.0	91.0	94.0					19																	57967372		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967372C>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.483G>T	19.37:g.57967372C>A	ENSP00000322339:p.Lys161Asn					AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	p.K161N	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	482	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	161					B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.483G>T	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115631	0.37339	.	.	ENSG00000178201	ENST00000321039	T	0.15256	2.44	4.24	-8.47	0.00939	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.40522	0.1120	M	0.89353	3.025	0.09310	N	1	D	0.61080	0.989	D	0.67231	0.95	T	0.53711	-0.8400	9	0.66056	D	0.02	.	13.2638	0.60122	0.0965:0.1192:0.0:0.7843	.	161	Q9GZP7	VN1R1_HUMAN	N	161	ENSP00000322339:K161N	ENSP00000322339:K161N	K	-	3	2	VN1R1	62659184	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.888000	0.04148	-2.217000	0.00731	-1.247000	0.01520	AAG		0.483	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		7	72	1	0	0.248553	1	0.24944	7	72				
EFNA5	1946	broad.mit.edu	37	5	106763211	106763211	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:106763211C>A	ENST00000333274.6	-	2	407		c.e2-1		EFNA5_ENST00000509503.1_Splice_Site	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5						axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CCTCTGGAATCTGTTAGAAAA	0.393																																						ENST00000333274.6																			0				large_intestine(6)	6						c.e2-1		ephrin-A5							76.0	79.0	78.0					5																	106763211		2202	4300	6502	SO:0001630	splice_region_variant	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106763211C>A	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.126-1G>T	5.37:g.106763211C>A						EFNA5_ENST00000509503.1_Splice_Site		NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	2	407	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)							Splice_Site	SNP	ENST00000333274.6	37		CCDS4097.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032880	0.75504	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EFNA5	106791110	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.757000	0.68766	2.878000	0.98634	0.650000	0.86243	.		0.393	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	Intron	30	51	1	0	7.01153e-11	1	8.66693e-11	30	51				
IL13RA1	3597	broad.mit.edu	37	X	117875003	117875003	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117875003T>G	ENST00000371666.3	+	2	179	c.112T>G	c.(112-114)Ttg>Gtg	p.L38V	SNORA35_ENST00000458908.1_RNA|IL13RA1_ENST00000371642.1_Missense_Mutation_p.L38V	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	38	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)	p.L38V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TGTGACAAATTTGAGTGTCTC	0.373																																						ENST00000371666.3																			1	Substitution - Missense(1)	p.L38V(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(112-114)Ttg>Gtg		interleukin 13 receptor, alpha 1							107.0	103.0	104.0					X																	117875003		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117875003T>G	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.112T>G	X.37:g.117875003T>G	ENSP00000360730:p.Leu38Val					IL13RA1_ENST00000371642.1_Missense_Mutation_p.L38V	p.L38V	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			2	179	+			38					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.112T>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.949491	0.34377	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.94828	-3.23;-3.53	5.76	4.53	0.55603	.	0.275715	0.26286	N	0.025248	D	0.86830	0.6027	N	0.17082	0.46	0.80722	D	1	B;B;B	0.26445	0.014;0.014;0.149	B;B;B	0.22386	0.021;0.021;0.039	T	0.82655	-0.0350	10	0.29301	T	0.29	-5.179	8.2157	0.31509	0.0:0.0:0.1992:0.8008	.	38;38;38	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	V	38	ENSP00000360730:L38V;ENSP00000360705:L38V	ENSP00000360705:L38V	L	+	1	2	IL13RA1	117759031	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	0.629000	0.24538	1.935000	0.56089	0.486000	0.48141	TTG		0.373	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		31	52	0	0	0	1	0	31	52				
BPIFB1	92747	broad.mit.edu	37	20	31873907	31873907	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31873907C>A	ENST00000253354.1	+	2	189	c.28C>A	c.(28-30)Ctc>Atc	p.L10I		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	10					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTTCACCCTTCTCTGTGGTTT	0.577																																						ENST00000253354.1																			0											c.(28-30)Ctc>Atc		BPI fold containing family B, member 1							127.0	108.0	115.0					20																	31873907		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31873907C>A	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.28C>A	20.37:g.31873907C>A	ENSP00000253354:p.Leu10Ile						p.L10I	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			2	189	+			10					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.28C>A	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	8.984	0.975989	0.18736	.	.	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.36878	1.23;3.6	4.92	2.96	0.34315	.	0.233177	0.30510	N	0.009471	T	0.33760	0.0874	M	0.71581	2.175	0.23036	N	0.998399	B;B	0.33318	0.408;0.408	B;B	0.30316	0.114;0.114	T	0.33979	-0.9847	10	0.87932	D	0	-20.5147	8.0306	0.30463	0.1807:0.6452:0.1741:0.0	.	10;10	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	I	10	ENSP00000390471:L10I;ENSP00000253354:L10I	ENSP00000253354:L10I	L	+	1	0	BPIFB1	31337568	0.916000	0.31088	0.842000	0.33263	0.022000	0.10575	0.683000	0.25349	0.774000	0.33427	0.655000	0.94253	CTC		0.577	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		29	54	1	0	6.38683e-12	1	8.00204e-12	29	54				
SLC6A14	11254	broad.mit.edu	37	X	115590115	115590115	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:115590115G>T	ENST00000371900.4	+	14	2011	c.1923G>T	c.(1921-1923)ccG>ccT	p.P641P		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	641					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCAGAAAACCGGAATGAGATC	0.343																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1921-1923)ccG>ccT		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						97.0	93.0	94.0					X																	115590115		2203	4299	6502	SO:0001819	synonymous_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115590115G>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1923G>T	X.37:g.115590115G>T							p.P641P	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			14	2011	+			641					Q5H942	Silent	SNP	ENST00000371900.4	37	c.1923G>T	CCDS14570.1																																																																																				0.343	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			35	67	1	0	4.34311e-12	1	5.44389e-12	35	67				
RAPGEF4	11069	broad.mit.edu	37	2	173866010	173866010	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:173866010C>T	ENST00000397081.3	+	17	1739	c.1596C>T	c.(1594-1596)gaC>gaT	p.D532D	RAPGEF4_ENST00000264111.6_Silent_p.D531D|RAPGEF4_ENST00000539331.1_Silent_p.D379D|RAPGEF4_ENST00000538974.1_Silent_p.D361D|RAPGEF4_ENST00000409036.1_Silent_p.D532D|RAPGEF4_ENST00000397087.3_Silent_p.D388D|RAPGEF4_ENST00000540783.1_Silent_p.D379D|RAPGEF4_ENST00000535187.1_Silent_p.D312D	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	532	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTTTAAATGACTTTATTATGA	0.383																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1591-1593)gaC>gaT		Rap guanine nucleotide exchange factor (GEF) 4							181.0	157.0	165.0					2																	173866010		1821	4081	5902	SO:0001819	synonymous_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173866010C>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1596C>T	2.37:g.173866010C>T						RAPGEF4_ENST00000409036.1_Silent_p.D532D|RAPGEF4_ENST00000540783.1_Silent_p.D379D|RAPGEF4_ENST00000539331.1_Silent_p.D379D|RAPGEF4_ENST00000397087.3_Silent_p.D388D|RAPGEF4_ENST00000538974.1_Silent_p.D361D|RAPGEF4_ENST00000397081.3_Silent_p.D532D|RAPGEF4_ENST00000535187.1_Silent_p.D312D	p.D531D			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		17	1780	+			532			N-terminal Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	c.1593C>T	CCDS42775.1																																																																																				0.383	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		13	51	0	0	0	1	0	13	51				
EPM2AIP1	9852	broad.mit.edu	37	3	37033157	37033157	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37033157A>C	ENST00000322716.5	-	1	1638	c.1412T>G	c.(1411-1413)tTt>tGt	p.F471C	MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	471					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ATGTCTCTCAAATTCTTTTTG	0.328																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(1411-1413)tTt>tGt		EPM2A (laforin) interacting protein 1							31.0	31.0	31.0					3																	37033157		1805	4066	5871	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033157A>C	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1412T>G	3.37:g.37033157A>C	ENSP00000406027:p.Phe471Cys						p.F471C	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	1638	-			471					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.1412T>G	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421993	0.62622	.	.	ENSG00000178567	ENST00000322716	T	0.29397	1.57	4.71	4.71	0.59529	.	.	.	.	.	T	0.53498	0.1800	M	0.75615	2.305	0.39058	D	0.960468	D	0.89917	1.0	D	0.76071	0.987	T	0.59910	-0.7365	9	0.56958	D	0.05	-17.5086	12.1599	0.54098	1.0:0.0:0.0:0.0	.	471	Q7L775	EPMIP_HUMAN	C	471	ENSP00000406027:F471C	ENSP00000406027:F471C	F	-	2	0	EPM2AIP1	37008161	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.936000	0.75892	1.959000	0.56917	0.533000	0.62120	TTT		0.328	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		8	14	0	0	0	1	0	8	14				
ZDHHC13	54503	broad.mit.edu	37	11	19185898	19185898	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19185898T>C	ENST00000446113.2	+	12	1405	c.1284T>C	c.(1282-1284)tgT>tgC	p.C428C	ZDHHC13_ENST00000399351.3_Silent_p.C298C	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	428					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAACATTTTGTACATCATGTC	0.348																																						ENST00000446113.2																			0				NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1282-1284)tgT>tgC		zinc finger, DHHC-type containing 13							154.0	140.0	145.0					11																	19185898		1852	4085	5937	SO:0001819	synonymous_variant	54503				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding	g.chr11:19185898T>C	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1284T>C	11.37:g.19185898T>C						ZDHHC13_ENST00000399351.3_Silent_p.C298C	p.C428C	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN			12	1405	+			428					Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Silent	SNP	ENST00000446113.2	37	c.1284T>C	CCDS44550.1																																																																																				0.348	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		4	13	0	0	0	1	0	4	13				
YEATS2	55689	broad.mit.edu	37	3	183479328	183479328	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183479328C>T	ENST00000305135.5	+	14	1885	c.1690C>T	c.(1690-1692)Ctt>Ttt	p.L564F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	564					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATGCCACCTCTTTGCCCAAT	0.413																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1690-1692)Ctt>Ttt		YEATS domain containing 2							167.0	160.0	162.0					3																	183479328		1866	4083	5949	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183479328C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1690C>T	3.37:g.183479328C>T	ENSP00000306983:p.Leu564Phe						p.L564F	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	1885	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		564					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1690C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313344	0.60414	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30448	1.53	6.03	5.16	0.70880	.	0.314616	0.28431	N	0.015372	T	0.27967	0.0689	L	0.27053	0.805	0.37982	D	0.933633	P	0.49635	0.926	P	0.44597	0.454	T	0.19976	-1.0289	10	0.66056	D	0.02	-22.4639	15.3849	0.74691	0.0:0.9336:0.0:0.0664	.	564	Q9ULM3	YETS2_HUMAN	F	564	ENSP00000306983:L564F	ENSP00000306983:L564F	L	+	1	0	YEATS2	184962022	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.647000	0.67923	1.561000	0.49584	0.655000	0.94253	CTT		0.413	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		50	86	0	0	0	1	0	50	86				
PCF11	51585	broad.mit.edu	37	11	82878235	82878235	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82878235A>C	ENST00000298281.4	+	6	2338	c.1886A>C	c.(1885-1887)aAa>aCa	p.K629T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	629					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAAGCACTAAAGGAATTTTA	0.408																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1885-1887)aAa>aCa		PCF11 cleavage and polyadenylation factor subunit							126.0	122.0	123.0					11																	82878235		1935	4147	6082	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82878235A>C	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1886A>C	11.37:g.82878235A>C	ENSP00000298281:p.Lys629Thr						p.K629T	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			6	2338	+			629					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1886A>C	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980441	0.53827	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.52526	1.64;0.68;0.66	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000007	T	0.57359	0.2048	L	0.29908	0.895	0.48288	D	0.999627	D;D	0.71674	0.996;0.998	P;D	0.76071	0.867;0.987	T	0.54417	-0.8297	9	.	.	.	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	629;629	E9PQ01;O94913	.;PCF11_HUMAN	T	629	ENSP00000298281:K629T;ENSP00000434540:K629T;ENSP00000431567:K629T	.	K	+	2	0	PCF11	82555883	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.558000	0.60789	2.289000	0.77006	0.482000	0.46254	AAA		0.408	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		46	74	0	0	0	1	0	46	74				
SLC17A3	10786	broad.mit.edu	37	6	25850809	25850809	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:25850809G>T	ENST00000360657.3	-	7	922	c.637C>A	c.(637-639)Ctc>Atc	p.L213I	SLC17A3_ENST00000361703.6_Missense_Mutation_p.L213I|SLC17A3_ENST00000397060.4_Missense_Mutation_p.L291I			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	213					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGAGATCTGAGCATAGCTTTG	0.428																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(871-873)Ctc>Atc		solute carrier family 17 (organic anion transporter), member 3							135.0	123.0	127.0					6																	25850809		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25850809G>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.637C>A	6.37:g.25850809G>T	ENSP00000353873:p.Leu213Ile					SLC17A3_ENST00000361703.6_Missense_Mutation_p.L213I|SLC17A3_ENST00000360657.3_Missense_Mutation_p.L213I	p.L291I	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			8	980	-			213					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.871C>A	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	G	1.294	-0.606889	0.03717	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.63744	-0.06;-0.06;-0.06	3.53	-2.07	0.07276	Major facilitator superfamily domain, general substrate transporter (1);	0.936276	0.08777	N	0.895245	T	0.42810	0.1219	L	0.49256	1.55	0.21527	N	0.999659	B;B;B	0.30068	0.204;0.267;0.184	B;B;B	0.42625	0.256;0.393;0.17	T	0.57230	-0.7847	10	0.40728	T	0.16	.	9.1918	0.37204	0.0:0.4026:0.481:0.1164	.	213;291;213	B7Z531;B7Z511;O00476	.;.;NPT4_HUMAN	I	291;213;213	ENSP00000380250:L291I;ENSP00000353873:L213I;ENSP00000355307:L213I	ENSP00000353873:L213I	L	-	1	0	SLC17A3	25958788	0.000000	0.05858	0.014000	0.15608	0.105000	0.19272	-0.896000	0.04114	-0.481000	0.06792	0.585000	0.79938	CTC		0.428	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			37	14	1	0	7.04047e-22	1	9.7605e-22	37	14				
CBFA2T3	863	broad.mit.edu	37	16	88945713	88945713	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:88945713G>T	ENST00000268679.4	-	11	2023	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.L457M|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.L505M|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.L467M|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.L457M	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	543					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ATGACCGTCAGGGCGTCCTCG	0.711			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1627-1629)Ctg>Atg		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							57.0	59.0	58.0					16																	88945713		2197	4298	6495	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88945713G>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1627C>A	16.37:g.88945713G>T	ENSP00000268679:p.Leu543Met					CBFA2T3_ENST00000360302.2_Missense_Mutation_p.L457M|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.L467M|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.L505M|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.L457M	p.L543M	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	11	2023	-			543					D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1627C>A	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749312	0.49257	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.7	3.74	0.42951	.	0.167226	0.41001	D	0.000980	T	0.61123	0.2322	M	0.73962	2.25	0.42186	D	0.991706	D;P	0.63046	0.992;0.946	D;P	0.66351	0.943;0.847	T	0.60984	-0.7154	10	0.48119	T	0.1	-21.3712	6.186	0.20498	0.1661:0.154:0.68:0.0	.	543;457	O75081;O75081-2	MTG16_HUMAN;.	M	457;543;505;467;457	ENSP00000332122:L457M;ENSP00000268679:L543M;ENSP00000395739:L505M;ENSP00000401254:L467M;ENSP00000353449:L457M	ENSP00000268679:L543M	L	-	1	2	CBFA2T3	87473214	0.963000	0.33076	0.144000	0.22314	0.767000	0.43475	1.607000	0.36836	0.968000	0.38212	0.462000	0.41574	CTG		0.711	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		5	68	1	0	0.0293803	1	0.0299069	5	68				
WIPF2	147179	broad.mit.edu	37	17	38421170	38421170	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38421170C>T	ENST00000323571.4	+	5	982	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	WIPF2_ENST00000585043.1_Silent_p.L248L|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Silent_p.L248L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	248					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TGGCCAGTCTCTGGCTCCTCC	0.602										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(742-744)Ctg>Ttg		WAS/WASL interacting protein family, member 2							162.0	147.0	153.0					17																	38421170		2203	4300	6503	SO:0001819	synonymous_variant	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421170C>T	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.742C>T	17.37:g.38421170C>T		HNSCC(43;0.11)				WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Silent_p.L248L|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Silent_p.L248L	p.L248L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	982	+			248					A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	37	c.742C>T	CCDS11364.1																																																																																				0.602	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		14	224	0	0	0	1	0	14	224				
ST8SIA3	51046	broad.mit.edu	37	18	55021708	55021708	+	Missense_Mutation	SNP	G	G	T	rs546717556		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:55021708G>T	ENST00000324000.3	+	2	2289	c.255G>T	c.(253-255)gaG>gaT	p.E85D		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	85					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AACTCCAAGAGAAACCTTCTA	0.433																																						ENST00000324000.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(253-255)gaG>gaT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							122.0	119.0	120.0					18																	55021708		2203	4300	6503	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55021708G>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.255G>T	18.37:g.55021708G>T	ENSP00000320431:p.Glu85Asp						p.E85D	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	2	2289	+			85					A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.255G>T	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304893	0.23736	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.46063	0.88	4.88	1.83	0.25207	.	0.473089	0.25305	N	0.031626	T	0.22551	0.0544	N	0.16478	0.41	0.45378	D	0.998365	B	0.02656	0.0	B	0.01281	0.0	T	0.05971	-1.0853	10	0.12766	T	0.61	-36.3081	10.1097	0.42555	0.0:0.4398:0.4252:0.1349	.	85	O43173	SIA8C_HUMAN	D	192;85	ENSP00000320431:E85D	ENSP00000320431:E85D	E	+	3	2	ST8SIA3	53172706	0.998000	0.40836	0.996000	0.52242	0.993000	0.82548	0.512000	0.22755	0.554000	0.29061	0.467000	0.42956	GAG		0.433	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		45	69	1	0	1.15505e-17	1	1.55342e-17	45	69				
TAS2R8	50836	broad.mit.edu	37	12	10959316	10959316	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10959316G>A	ENST00000240615.2	-	1	576	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	88					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAAATGTCCAGAAGGTAAAAA	0.348																																						ENST00000240615.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(262-264)ttC>ttT		taste receptor, type 2, member 8							96.0	95.0	95.0					12																	10959316		2203	4300	6503	SO:0001819	synonymous_variant	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959316G>A	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.264C>T	12.37:g.10959316G>A							p.F88F	NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN			1	576	-			88					Q4KN29|Q645Y2	Silent	SNP	ENST00000240615.2	37	c.264C>T	CCDS8632.1																																																																																				0.348	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			36	41	0	0	0	1	0	36	41				
FMNL2	114793	broad.mit.edu	37	2	153497338	153497338	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:153497338G>A	ENST00000475377.2	+	12	1404	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	FMNL2_ENST00000288670.9_Missense_Mutation_p.E1027K			Q96PY5	FMNL2_HUMAN	formin-like 2	1027	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCAGCAGCAAGAGTTAATTGC	0.378																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(3079-3081)Gag>Aag		formin-like 2							83.0	79.0	80.0					2																	153497338		1866	4105	5971	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153497338G>A	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.1204G>A	2.37:g.153497338G>A	ENSP00000418959:p.Glu402Lys					FMNL2_ENST00000475377.2_Missense_Mutation_p.E402K	p.E1027K	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			25	3446	+			1027					B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000475377.2	37	c.3079G>A		.	.	.	.	.	.	.	.	.	.	G	23.1	4.368872	0.82463	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.76709	-1.04;2.26	5.33	5.33	0.75918	Actin-binding FH2/DRF autoregulatory (1);	.	.	.	.	T	0.78400	0.4277	M	0.75447	2.3	0.80722	D	1	P;B;B	0.34522	0.455;0.137;0.198	B;B;B	0.36845	0.052;0.067;0.234	T	0.75402	-0.3330	9	0.13108	T	0.6	.	19.0284	0.92944	0.0:0.0:1.0:0.0	.	1027;508;1027	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	K	1027;508;402	ENSP00000288670:E1027K;ENSP00000418959:E402K	ENSP00000288670:E1027K	E	+	1	0	FMNL2	153205584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.806000	0.99153	2.499000	0.84300	0.563000	0.77884	GAG		0.378	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905		8	14	0	0	0	1	0	8	14				
ZNF583	147949	broad.mit.edu	37	19	56935607	56935607	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56935607A>C	ENST00000333201.9	+	5	1790	c.1580A>C	c.(1579-1581)aAa>aCa	p.K527T	ZNF583_ENST00000291598.7_Missense_Mutation_p.K527T|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GATTGCAGGAAATCTTTCAGG	0.408																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1579-1581)aAa>aCa		zinc finger protein 583							108.0	107.0	107.0					19																	56935607		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935607A>C	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1580A>C	19.37:g.56935607A>C	ENSP00000388502:p.Lys527Thr					ZNF583_ENST00000291598.7_Missense_Mutation_p.K527T|ZNF583_ENST00000585612.1_Intron	p.K527T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1790	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	527					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1580A>C	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.954143	0.53293	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.27890	1.64;1.64	4.64	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000235	T	0.59622	0.2207	M	0.92970	3.365	0.20196	N	0.999927	D	0.65815	0.995	D	0.66979	0.948	T	0.56805	-0.7918	9	.	.	.	.	9.5485	0.39295	0.9144:0.0:0.0856:0.0	.	527	Q96ND8	ZN583_HUMAN	T	527	ENSP00000291598:K527T;ENSP00000388502:K527T	.	K	+	2	0	ZNF583	61627419	0.684000	0.27642	0.001000	0.08648	0.998000	0.95712	3.265000	0.51561	0.920000	0.36970	0.528000	0.53228	AAA		0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		25	56	0	0	0	1	0	25	56				
PPRC1	23082	broad.mit.edu	37	10	103899139	103899139	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:103899139A>C	ENST00000278070.2	+	5	913	c.874A>C	c.(874-876)Atg>Ctg	p.M292L	PPRC1_ENST00000413464.2_Missense_Mutation_p.M292L|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCAGCAGAGATGGCAGTGCC	0.587																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(874-876)Atg>Ctg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							94.0	82.0	86.0					10																	103899139		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103899139A>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.874A>C	10.37:g.103899139A>C	ENSP00000278070:p.Met292Leu					PPRC1_ENST00000413464.2_Missense_Mutation_p.M292L	p.M292L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	913	+		Colorectal(252;0.122)	292					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.874A>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	A	4.881	0.163798	0.09287	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.51574	0.7;0.7	4.29	1.97	0.26223	.	0.760664	0.12343	N	0.477236	T	0.23965	0.0580	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.19353	-1.0308	10	0.17369	T	0.5	.	3.3773	0.07242	0.5993:0.0:0.2273:0.1733	.	292;172;292	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	292	ENSP00000278070:M292L;ENSP00000399743:M292L	ENSP00000278070:M292L	M	+	1	0	PPRC1	103889129	0.003000	0.15002	0.046000	0.18839	0.792000	0.44763	0.021000	0.13489	0.455000	0.26910	0.418000	0.28097	ATG		0.587	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		9	98	0	0	0	1	0	9	98				
SETD1A	9739	broad.mit.edu	37	16	30970433	30970433	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30970433G>A	ENST00000262519.8	+	3	858	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	58					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TATACCAGTCGAAGACCTCCA	0.522																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(172-174)Gaa>Aaa		SET domain containing 1A							152.0	149.0	150.0					16																	30970433		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30970433G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.172G>A	16.37:g.30970433G>A	ENSP00000262519:p.Glu58Lys						p.E58K	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			3	858	+			58					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.172G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084215	0.36758	.	.	ENSG00000099381	ENST00000262519;ENST00000452917;ENST00000449974	D	0.94046	-3.34	5.66	4.51	0.55191	.	0.123240	0.52532	D	0.000063	T	0.81370	0.4808	N	0.12182	0.205	0.27104	N	0.96255	P	0.35551	0.509	B	0.20184	0.028	T	0.71517	-0.4569	10	0.11182	T	0.66	.	11.2562	0.49056	0.1379:0.0:0.8621:0.0	.	58	O15047	SET1A_HUMAN	K	58	ENSP00000262519:E58K	ENSP00000262519:E58K	E	+	1	0	SETD1A	30877934	1.000000	0.71417	0.987000	0.45799	0.977000	0.68977	4.941000	0.63540	2.669000	0.90835	0.655000	0.94253	GAA		0.522	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		61	124	0	0	0	1	0	61	124				
KLHL24	54800	broad.mit.edu	37	3	183368270	183368270	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183368270C>A	ENST00000454652.2	+	4	512	c.126C>A	c.(124-126)ttC>ttA	p.F42L	KLHL24_ENST00000476808.1_Missense_Mutation_p.F42L|KLHL24_ENST00000242810.6_Missense_Mutation_p.F42L	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	42						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TTTTTGACTTCTCTTCAGGAT	0.408																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(124-126)ttC>ttA		kelch-like family member 24							99.0	102.0	101.0					3																	183368270		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368270C>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.126C>A	3.37:g.183368270C>A	ENSP00000395012:p.Phe42Leu					KLHL24_ENST00000242810.6_Missense_Mutation_p.F42L|KLHL24_ENST00000476808.1_Missense_Mutation_p.F42L	p.F42L			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		4	512	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		42					A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.126C>A	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441770	0.63067	.	.	ENSG00000114796	ENST00000242810;ENST00000493074;ENST00000437402;ENST00000454495;ENST00000473045;ENST00000468101;ENST00000427201;ENST00000482138;ENST00000454652;ENST00000468001;ENST00000476808	T;D;T;T;D;T;D;T	0.82255	-0.39;-1.58;-0.44;-0.44;-1.59;-0.39;-1.59;-0.33	5.44	4.38	0.52667	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	L	0.27053	0.805	0.58432	D	0.999996	D;B	0.67145	0.996;0.404	D;B	0.70935	0.971;0.093	T	0.76340	-0.2995	10	0.11182	T	0.66	.	12.9013	0.58126	0.0:0.8639:0.0:0.1361	.	42;42	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	L	42	ENSP00000242810:F42L;ENSP00000417347:F42L;ENSP00000416836:F42L;ENSP00000408567:F42L;ENSP00000417275:F42L;ENSP00000395012:F42L;ENSP00000418922:F42L;ENSP00000419010:F42L	ENSP00000242810:F42L	F	+	3	2	KLHL24	184850964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.529000	0.35996	2.560000	0.86352	0.460000	0.39030	TTC		0.408	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		20	54	1	0	1.33834e-09	1	1.61283e-09	20	54				
IGHV1-45	28466	broad.mit.edu	37	14	106963355	106963355	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106963355G>T	ENST00000390621.2	-	0	69									immunoglobulin heavy variable 1-45																		GGATTCTCCAGGTCCAGTCCA	0.532																																						ENST00000390621.2																			0																				81.0	81.0	81.0					14																	106963355		1902	4107	6009			0							g.chr14:106963355G>T	X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106963355G>T														0	69	-									RNA	SNP	ENST00000390621.2	37																																																																																						0.532	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325169.1	NG_001019		17	51	1	0	0.00074312	1	0.000783089	17	51				
CNR2	1269	broad.mit.edu	37	1	24201065	24201065	+	Missense_Mutation	SNP	G	G	A	rs200710174		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24201065G>A	ENST00000374472.4	-	2	1204	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	CNR2_ENST00000536471.1_Missense_Mutation_p.P348L	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	348					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	ATCTGGCCACGGAGTGATTTT	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21312	0.0		0.0	False		,,,				2504	0.0					ENST00000536471.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(1042-1044)cCg>cTg		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)	G	LEU/PRO	4,4402	8.1+/-20.4	0,4,2199	92.0	105.0	100.0		1043	-7.1	0.0	1		100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CNR2	NM_001841.2	98	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign	348/361	24201065	5,13001	2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201065G>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.1043C>T	1.37:g.24201065G>A	ENSP00000363596:p.Pro348Leu					CNR2_ENST00000374472.4_Missense_Mutation_p.P348L	p.P348L			P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	1301	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	348					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.1043C>T	CCDS245.1	.	.	.	.	.	.	.	.	.	.	G	8.349	0.830407	0.16749	9.08E-4	1.16E-4	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.76968	-1.06;-1.06	3.56	-7.12	0.01537	.	2.096180	0.02648	N	0.106075	T	0.59032	0.2164	N	0.14661	0.345	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.52518	-0.8565	10	0.62326	D	0.03	.	6.4674	0.21990	0.2529:0.0:0.4541:0.293	.	348	P34972	CNR2_HUMAN	L	348	ENSP00000363596:P348L;ENSP00000442830:P348L	ENSP00000363596:P348L	P	-	2	0	CNR2	24073652	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.079000	0.11357	-2.255000	0.00696	0.563000	0.77884	CCG		0.507	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		40	76	0	0	0	1	0	40	76				
ANK2	287	broad.mit.edu	37	4	114275856	114275856	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114275856C>T	ENST00000357077.4	+	38	6135	c.6082C>T	c.(6082-6084)Cgg>Tgg	p.R2028W	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1995W|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2028					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R2028W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGTAAAGTTCGGGTAGAAAA	0.463																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.R2028W(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(6082-6084)Cgg>Tgg		ankyrin 2, neuronal							40.0	47.0	45.0					4																	114275856		2201	4298	6499	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275856C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6082C>T	4.37:g.114275856C>T	ENSP00000349588:p.Arg2028Trp					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1995W|ANK2_ENST00000506722.1_Intron	p.R2028W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6135	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1995					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6082C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397761	0.42512	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68765	-0.34;-0.35	5.53	4.67	0.58626	.	0.129029	0.35013	N	0.003515	T	0.72120	0.3421	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.56700	0.642;0.804	T	0.72154	-0.4376	9	.	.	.	.	11.0813	0.48062	0.129:0.8023:0.0:0.0687	.	1995;2028	Q01484;Q01484-4	ANK2_HUMAN;.	W	2028;1995	ENSP00000349588:R2028W;ENSP00000264366:R1995W	.	R	+	1	2	ANK2	114495305	0.053000	0.20554	0.073000	0.20177	0.268000	0.26511	1.651000	0.37302	1.407000	0.46875	0.563000	0.77884	CGG		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		49	74	0	0	0	1	0	49	74				
FMN1	342184	broad.mit.edu	37	15	33091084	33091084	+	Missense_Mutation	SNP	C	C	T	rs76835557	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33091084C>T	ENST00000559047.1	-	16	4050	c.4051G>A	c.(4051-4053)Gtg>Atg	p.V1351M	FMN1_ENST00000334528.9_Missense_Mutation_p.V1128M|FMN1_ENST00000561249.1_Missense_Mutation_p.V1253M			Q68DA7	FMN1_HUMAN	formin 1	1351	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		ACCATAAACACGTAGCTGGGT	0.398													C|||	8	0.00159744	0.0061	0.0	5008	,	,		19282	0.0		0.0	False		,,,				2504	0.0					ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(3382-3384)Gtg>Atg		formin 1		C	MET/VAL	21,3741		0,21,1860	108.0	98.0	101.0		3382	5.9	1.0	15	dbSNP_131	101	0,8240		0,0,4120	yes	missense	FMN1	NM_001103184.2	21	0,21,5980	TT,TC,CC		0.0,0.5582,0.175	probably-damaging	1128/1197	33091084	21,11981	1881	4120	6001	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33091084C>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4051G>A	15.37:g.33091084C>T	ENSP00000454047:p.Val1351Met					FMN1_ENST00000561249.1_Missense_Mutation_p.V1253M|FMN1_ENST00000559047.1_Missense_Mutation_p.V1351M	p.V1128M	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	15	3381	-		all_lung(180;1.14e-07)	1351			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.3382G>A		8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	18.04	3.535147	0.64972	0.005582	0.0	ENSG00000248905	ENST00000334528	T	0.19250	2.16	5.86	5.86	0.93980	.	0.181555	0.47852	D	0.000206	T	0.23171	0.0560	L	0.43152	1.355	.	.	.	D	0.89917	1.0	D	0.72338	0.977	T	0.14531	-1.0469	9	0.66056	D	0.02	.	14.9571	0.71124	0.1428:0.8572:0.0:0.0	.	1128	Q68DA7-5	.	M	1128	ENSP00000333950:V1128M	ENSP00000333950:V1128M	V	-	1	0	FMN1	30878376	0.997000	0.39634	0.992000	0.48379	0.992000	0.81027	1.688000	0.37690	2.773000	0.95371	0.655000	0.94253	GTG		0.398	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		7	24	0	0	0	1	0	7	24				
ITGAL	3683	broad.mit.edu	37	16	30507506	30507506	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30507506T>G	ENST00000356798.6	+	14	1772	c.1592T>G	c.(1591-1593)aTc>aGc	p.I531S	ITGAL_ENST00000358164.5_Missense_Mutation_p.I448S|ITGAL_ENST00000433423.2_Intron|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	531					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CTGACAGACATCAACGGCGAT	0.617																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1591-1593)aTc>aGc		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						91.0	99.0	97.0					16																	30507506		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30507506T>G		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1592T>G	16.37:g.30507506T>G	ENSP00000349252:p.Ile531Ser					ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Missense_Mutation_p.I448S|ITGAL_ENST00000433423.2_Intron	p.I531S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			14	1772	+			531					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1592T>G	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978109	0.74360	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.71461	-0.57;-0.57	5.94	5.94	0.96194	.	0.330721	0.26143	N	0.026095	D	0.83362	0.5238	M	0.79258	2.445	0.80722	D	1	D;D	0.64830	0.994;0.989	D;D	0.69142	0.95;0.962	D	0.85428	0.1147	10	0.87932	D	0	.	13.9183	0.63914	0.0:0.0:0.0:1.0	.	448;531	Q96HB1;P20701	.;ITAL_HUMAN	S	531;448	ENSP00000349252:I531S;ENSP00000350886:I448S	ENSP00000349252:I531S	I	+	2	0	ITGAL	30415007	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	6.318000	0.72866	2.272000	0.75746	0.460000	0.39030	ATC		0.617	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			23	125	0	0	0	1	0	23	125				
SPATA5	166378	broad.mit.edu	37	4	123949434	123949434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123949434C>T	ENST00000274008.4	+	11	2032	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	655					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTCTTTCATTCGAATGGGTAT	0.448																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1963-1965)Cga>Tga		spermatogenesis associated 5							137.0	133.0	134.0					4																	123949434		2203	4300	6503	SO:0001587	stop_gained	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123949434C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1963C>T	4.37:g.123949434C>T	ENSP00000274008:p.Arg655*					SPATA5_ENST00000422835.2_3'UTR	p.R655*	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			11	2032	+			655					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Nonsense_Mutation	SNP	ENST00000274008.4	37	c.1963C>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	39	7.854246	0.98525	.	.	ENSG00000145375	ENST00000274008	.	.	.	5.79	3.91	0.45181	.	0.065330	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9477	14.3133	0.66432	0.278:0.722:0.0:0.0	.	.	.	.	X	655	.	ENSP00000274008:R655X	R	+	1	2	SPATA5	124168884	0.986000	0.35501	0.820000	0.32676	0.964000	0.63967	2.852000	0.48310	1.384000	0.46424	0.585000	0.79938	CGA		0.448	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		42	69	0	0	0	1	0	42	69				
SERPINC1	462	broad.mit.edu	37	1	173873151	173873151	+	Missense_Mutation	SNP	C	C	T	rs121909566		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173873151C>T	ENST00000367698.3	-	7	1389	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	424			G -> D (in AT3D; type-II; Stockholm). {ECO:0000269|PubMed:1547341, ECO:0000269|PubMed:9031473}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TAGCGAACGGCCAGCAATCAC	0.463																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25	GRCh37	CM910059	SERPINC1	M	rs121909566	c.(1270-1272)gGc>gAc		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						77.0	74.0	75.0					1																	173873151		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173873151C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1271G>A	1.37:g.173873151C>T	ENSP00000356671:p.Gly424Asp						p.G424D	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			7	1389	-			424		G -> D (in AT3D; type-II; Stockholm).			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.1271G>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172033	0.78452	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.82433	-1.61	5.74	5.74	0.90152	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.86715	0.5999	M	0.65975	2.015	0.80722	A	1	D	0.89917	1.0	D	0.85130	0.997	T	0.83293	-0.0032	9	0.21014	T	0.42	.	15.2031	0.73157	0.1414:0.8586:0.0:0.0	.	424	P01008	ANT3_HUMAN	D	424;219	ENSP00000356671:G424D	ENSP00000307953:G219D	G	-	2	0	SERPINC1	172139774	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.346000	0.65992	2.712000	0.92718	0.650000	0.86243	GGC		0.463	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		25	42	0	0	0	1	0	25	42				
VARS2	57176	broad.mit.edu	37	6	30891151	30891151	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30891151G>A	ENST00000321897.5	+	24	2967	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	VARS2_ENST00000416670.2_Missense_Mutation_p.D779N|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.D639N|VARS2_ENST00000541562.1_Missense_Mutation_p.D809N			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	779					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTCCCCGATGGATGCCTGGAT	0.657																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(2335-2337)Gat>Aat		valyl-tRNA synthetase 2, mitochondrial							51.0	41.0	45.0					6																	30891151		1509	2707	4216	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30891151G>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2335G>A	6.37:g.30891151G>A	ENSP00000316092:p.Asp779Asn					VARS2_ENST00000416670.2_Missense_Mutation_p.D779N|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.D809N|VARS2_ENST00000542001.1_Missense_Mutation_p.D639N	p.D779N			Q5ST30	SYVM_HUMAN			24	2967	+			779					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.2335G>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502614	0.85176	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.37	5.37	0.77165	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.045098	0.85682	D	0.000000	T	0.47507	0.1449	M	0.84156	2.68	0.58432	D	0.999997	D;D;D;D	0.65815	0.994;0.995;0.994;0.972	D;D;P;P	0.68039	0.955;0.936;0.895;0.759	T	0.52358	-0.8586	10	0.87932	D	0	-23.3532	16.9538	0.86252	0.0:0.0:1.0:0.0	.	217;777;809;779	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	N	779;779;639;809	ENSP00000316092:D779N;ENSP00000394802:D779N;ENSP00000438200:D639N;ENSP00000441000:D809N	ENSP00000316092:D779N	D	+	1	0	VARS2	30999130	1.000000	0.71417	0.961000	0.40146	0.560000	0.35617	6.519000	0.73768	2.683000	0.91414	0.558000	0.71614	GAT		0.657	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		41	16	0	0	0	1	0	41	16				
COL4A1	1282	broad.mit.edu	37	13	110829261	110829261	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:110829261T>G	ENST00000375820.4	-	34	2961	c.2840A>C	c.(2839-2841)aAg>aCg	p.K947T		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	947	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TTTCTGGCCCTTCATGCTGCC	0.577																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2839-2841)aAg>aCg		collagen, type IV, alpha 1							128.0	113.0	118.0					13																	110829261		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110829261T>G	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2840A>C	13.37:g.110829261T>G	ENSP00000364979:p.Lys947Thr						p.K947T	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		34	2961	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	947			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2840A>C	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530798	0.85706	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93247	-3.19	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94978	0.8123	10	0.45353	T	0.12	.	16.0092	0.80385	0.0:0.0:0.0:1.0	.	947	P02462	CO4A1_HUMAN	T	590;947;596	ENSP00000364979:K947T	ENSP00000364973:K590T	K	-	2	0	COL4A1	109627262	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.333000	0.79214	2.240000	0.73641	0.533000	0.62120	AAG		0.577	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			16	57	0	0	0	1	0	16	57				
WTAP	9589	broad.mit.edu	37	6	160176595	160176595	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160176595T>G	ENST00000358372.4	+	8	2900	c.1143T>G	c.(1141-1143)gtT>gtG	p.V381V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	381					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CCCGCCACGTTCAGAATGGCT	0.418																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(1141-1143)gtT>gtG		Wilms tumor 1 associated protein							72.0	76.0	75.0					6																	160176595		2203	4300	6503	SO:0001819	synonymous_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176595T>G	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.1143T>G	6.37:g.160176595T>G						SOD2_ENST00000546087.1_Intron	p.V381V	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	2900	+		Breast(66;0.000776)|Ovarian(120;0.0303)	381					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	37	c.1143T>G	CCDS5266.1																																																																																				0.418	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		13	78	0	0	0	1	0	13	78				
NSUN2	54888	broad.mit.edu	37	5	6607343	6607343	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:6607343T>G	ENST00000264670.6	-	13	1789	c.1478A>C	c.(1477-1479)aAt>aCt	p.N493T	NSUN2_ENST00000539938.1_Missense_Mutation_p.N257T|NSUN2_ENST00000506139.1_Missense_Mutation_p.N458T	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	493					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACTGCCATTATTCTCTAAATC	0.438																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1477-1479)aAt>aCt		NOP2/Sun RNA methyltransferase family, member 2							294.0	291.0	292.0					5																	6607343		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6607343T>G	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1478A>C	5.37:g.6607343T>G	ENSP00000264670:p.Asn493Thr					NSUN2_ENST00000539938.1_Missense_Mutation_p.N257T|NSUN2_ENST00000506139.1_Missense_Mutation_p.N458T	p.N493T	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			13	1789	-			493					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1478A>C	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.936943	0.52972	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.55234	1.26;0.53;1.26	5.0	-8.67	0.00863	.	1.035330	0.07485	N	0.904633	T	0.25082	0.0609	N	0.15975	0.35	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.06405	0.001;0.002	T	0.16897	-1.0387	10	0.16420	T	0.52	-8.3122	6.6795	0.23113	0.1043:0.5219:0.2126:0.1612	.	458;493	B4DQW2;Q08J23	.;NSUN2_HUMAN	T	493;257;458	ENSP00000264670:N493T;ENSP00000444338:N257T;ENSP00000420957:N458T	ENSP00000264670:N493T	N	-	2	0	NSUN2	6660343	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	-1.211000	0.02997	-1.317000	0.02292	-0.274000	0.10170	AAT		0.438	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		69	136	0	0	0	1	0	69	136				
DMBT1	1755	broad.mit.edu	37	10	124390744	124390744	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124390744G>A	ENST00000338354.3	+	46	6012	c.5906G>A	c.(5905-5907)gGc>gAc	p.G1969D	DMBT1_ENST00000368956.2_Missense_Mutation_p.G1341D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1969D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1341D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000359586.6_Missense_Mutation_p.G689D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1969	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGGAACCGAGGCTGGTTCTCC	0.532																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5905-5907)gGc>gAc		deleted in malignant brain tumors 1							154.0	150.0	151.0					10																	124390744		2049	4201	6250	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390744G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5906G>A	10.37:g.124390744G>A	ENSP00000342210:p.Gly1969Asp					DMBT1_ENST00000368956.2_Missense_Mutation_p.G1341D|DMBT1_ENST00000359586.6_Missense_Mutation_p.G689D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1969D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1341D	p.G1969D			Q9UGM3	DMBT1_HUMAN			46	6012	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1969			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5906G>A		.	.	.	.	.	.	.	.	.	.	G	19.34	3.809674	0.70797	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.56	4.65	0.58169	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	D	0.83348	0.5235	M	0.75615	2.305	0.28365	N	0.92029	D;D;D;D;D;P;D	0.89917	0.999;0.966;0.99;1.0;0.998;0.843;0.982	D;P;P;D;P;P;D	0.87578	0.97;0.8;0.686;0.998;0.904;0.839;0.976	T	0.77715	-0.2484	9	0.42905	T	0.14	.	15.113	0.72375	0.0:0.2669:0.733:0.0	.	689;1949;1218;2098;1341;1959;1969	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	D	1969;2098;1969;1969;1969;1969;1341;1959;1341;1341;1969;1959;1341;115;689	ENSP00000342210:G1969D;ENSP00000343175:G1959D;ENSP00000327747:G1341D;ENSP00000357905:G1969D;ENSP00000357951:G1959D;ENSP00000357952:G1341D;ENSP00000352593:G689D	ENSP00000331522:G1341D	G	+	2	0	DMBT1	124380734	0.000000	0.05858	0.959000	0.39883	0.939000	0.58152	0.620000	0.24403	1.326000	0.45319	0.650000	0.86243	GGC		0.532	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		52	97	0	0	0	1	0	52	97				
YRDC	79693	broad.mit.edu	37	1	38272619	38272619	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38272619A>C	ENST00000373044.2	-	3	538	c.534T>G	c.(532-534)gcT>gcG	p.A178A	C1orf122_ENST00000446260.2_5'Flank|C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000373043.1_5'Flank|C1orf122_ENST00000468084.1_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	178	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTGCATAAAAGCATGATCAG	0.488																																						ENST00000373044.2																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(532-534)gcT>gcG		yrdC N(6)-threonylcarbamoyltransferase domain containing							89.0	79.0	82.0					1																	38272619		2203	4300	6503	SO:0001819	synonymous_variant	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38272619A>C		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"""ischemia/reperfusion inducible protein"""	612276	"""yrdC domain containing (E.coli)"", ""yrdC domain containing (E. coli)"""			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.534T>G	1.37:g.38272619A>C							p.A178A	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN			3	538	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	178			YrdC-like.		Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Silent	SNP	ENST00000373044.2	37	c.534T>G	CCDS30675.1																																																																																				0.488	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640		30	51	0	0	0	1	0	30	51				
SLC8A3	6547	broad.mit.edu	37	14	70633726	70633726	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70633726C>T	ENST00000381269.2	-	2	2167	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N	SLC8A3_ENST00000534137.1_Missense_Mutation_p.D472N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D472N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D472N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D472N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	472	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCAAAAATGTCGTCATCAATT	0.512																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1414-1416)Gac>Aac		solute carrier family 8 (sodium/calcium exchanger), member 3							161.0	162.0	162.0					14																	70633726		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633726C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1414G>A	14.37:g.70633726C>T	ENSP00000370669:p.Asp472Asn					SLC8A3_ENST00000528359.1_Missense_Mutation_p.D472N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D472N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D472N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D472N	p.D472N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2167	-			472			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1414G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534060	0.64972	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.53	5.53	0.82687	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	L	0.53729	1.69	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.997	T	0.52026	-0.8630	10	0.39692	T	0.17	.	19.463	0.94927	0.0:1.0:0.0:0.0	.	472;472;472;472	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	472	ENSP00000349392:D472N;ENSP00000370669:D472N;ENSP00000350560:D472N;ENSP00000436688:D472N;ENSP00000433531:D472N	ENSP00000349392:D472N	D	-	1	0	SLC8A3	69703479	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	7.811000	0.86092	2.587000	0.87381	0.643000	0.83706	GAC		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			60	124	0	0	0	1	0	60	124				
ZMYND10	51364	broad.mit.edu	37	3	50382591	50382591	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:50382591G>A	ENST00000231749.3	-	2	1437	c.165C>T	c.(163-165)ggC>ggT	p.G55G	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|ZMYND10_ENST00000360165.3_Silent_p.G55G	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	55					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAATGGGCTCGCCCTGGCTGA	0.602										TSP Lung(30;0.18)																												ENST00000231749.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14						c.(163-165)ggC>ggT		zinc finger, MYND-type containing 10							120.0	98.0	106.0					3																	50382591		2203	4300	6503	SO:0001819	synonymous_variant	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50382591G>A	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.165C>T	3.37:g.50382591G>A		TSP Lung(30;0.18)				ZMYND10_ENST00000360165.3_Silent_p.G55G|ZMYND10-AS1_ENST00000440013.1_RNA	p.G55G	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	1437	-			55					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	ENST00000231749.3	37	c.165C>T	CCDS2825.1																																																																																				0.602	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		7	18	0	0	0	1	0	7	18				
MET	4233	broad.mit.edu	37	7	116371750	116371750	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:116371750A>G	ENST00000318493.6	+	3	1416	c.1229A>G	c.(1228-1230)gAa>gGa	p.E410G	MET_ENST00000397752.3_Missense_Mutation_p.E410G|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.E410G			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCAGGCTGTGAAGCGCGCCGT	0.418			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1228-1230)gAa>gGa		met proto-oncogene							95.0	86.0	89.0					7																	116371750		1872	4092	5964	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116371750A>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1229A>G	7.37:g.116371750A>G	ENSP00000317272:p.Glu410Gly					MET_ENST00000318493.6_Missense_Mutation_p.E410G|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.E410G	p.E410G	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		3	1429	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	410			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1229A>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556124	0.27827	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11169	2.8;2.8;2.8	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.423361	0.28583	N	0.014832	T	0.09024	0.0223	L	0.39245	1.2	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.14805	0.005;0.003;0.011;0.003;0.003;0.003;0.006;0.003;0.001;0.006;0.004	B;B;B;B;B;B;B;B;B;B;B	0.19666	0.011;0.026;0.015;0.015;0.015;0.015;0.015;0.015;0.005;0.009;0.009	T	0.21177	-1.0253	10	0.41790	T	0.15	.	4.6172	0.12432	0.6893:0.1925:0.1182:0.0	.	410;410;410;410;410;410;410;410;410;410;410	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;B5A942;P08581	.;.;.;.;.;.;.;.;.;.;MET_HUMAN	G	410	ENSP00000380860:E410G;ENSP00000317272:E410G;ENSP00000410980:E410G	ENSP00000317272:E410G	E	+	2	0	MET	116158986	1.000000	0.71417	0.999000	0.59377	0.675000	0.39556	3.322000	0.52007	2.052000	0.61016	0.533000	0.62120	GAA		0.418	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			16	27	0	0	0	1	0	16	27				
CACNA1H	8912	broad.mit.edu	37	16	1267977	1267977	+	Silent	SNP	C	C	T	rs567978624	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1267977C>T	ENST00000348261.5	+	32	5630	c.5382C>T	c.(5380-5382)ttC>ttT	p.F1794F	CACNA1H_ENST00000565831.1_Silent_p.F1788F|CACNA1H_ENST00000358590.4_Silent_p.F1788F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1794					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCAGCAACTTCGGCATGGCCT	0.682													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18398	0.001		0.0	False		,,,				2504	0.0					ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(5380-5382)ttC>ttT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						25.0	31.0	29.0					16																	1267977		2136	4251	6387	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1267977C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5382C>T	16.37:g.1267977C>T						CACNA1H_ENST00000565831.1_Silent_p.F1788F|CACNA1H_ENST00000358590.4_Silent_p.F1788F	p.F1794F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			32	5630	+		Hepatocellular(780;0.00369)	1794					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.5382C>T	CCDS45375.1																																																																																				0.682	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		6	9	0	0	0	1	0	6	9				
CACNA1H	8912	broad.mit.edu	37	16	1270889	1270889	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1270889G>T	ENST00000348261.5	+	35	7205	c.6957G>T	c.(6955-6957)gaG>gaT	p.E2319D	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2313D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2313D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2319					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ACCCCCCAGAGAAGAGGCGGG	0.652																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6955-6957)gaG>gaT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						56.0	62.0	60.0					16																	1270889		1846	4080	5926	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270889G>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6957G>T	16.37:g.1270889G>T	ENSP00000334198:p.Glu2319Asp					CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2313D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2313D	p.E2319D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			35	7205	+		Hepatocellular(780;0.00369)	2319					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.6957G>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.639075	0.29157	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96651	-4.08;-4.03	3.85	2.87	0.33458	.	9.226020	0.00166	N	0.000011	D	0.96574	0.8882	N	0.24115	0.695	0.09310	N	1	B;D;D;D;B	0.61697	0.075;0.984;0.984;0.99;0.141	B;D;D;D;B	0.73380	0.01;0.956;0.956;0.98;0.019	D	0.88955	0.3389	10	0.66056	D	0.02	.	10.1079	0.42544	0.0:0.0:0.7991:0.2009	.	1065;1043;1049;2313;2319	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	D	2319;2313	ENSP00000334198:E2319D;ENSP00000351401:E2313D	ENSP00000334198:E2319D	E	+	3	2	CACNA1H	1210890	0.998000	0.40836	0.579000	0.28588	0.141000	0.21300	2.422000	0.44696	0.814000	0.34374	-0.300000	0.09419	GAG		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		30	60	1	0	1.39806e-14	1	1.82523e-14	30	60				
PRDM5	11107	broad.mit.edu	37	4	121720877	121720877	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121720877T>G	ENST00000264808.3	-	9	1209	c.969A>C	c.(967-969)caA>caC	p.Q323H	PRDM5_ENST00000515109.1_Missense_Mutation_p.Q292H|PRDM5_ENST00000428209.2_Missense_Mutation_p.Q292H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	323					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCATACATTCTTGACAATCAA	0.299																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(967-969)caA>caC		PR domain containing 5							53.0	54.0	54.0					4																	121720877		2201	4295	6496	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121720877T>G	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.969A>C	4.37:g.121720877T>G	ENSP00000264808:p.Gln323His					PRDM5_ENST00000428209.2_Missense_Mutation_p.Q292H|PRDM5_ENST00000515109.1_Missense_Mutation_p.Q292H	p.Q323H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			9	1209	-			323					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.969A>C	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.263977	0.39995	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.36699	1.24;3.77;3.77	5.77	0.691	0.18045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.108529	0.64402	D	0.000006	T	0.22820	0.0551	N	0.25245	0.725	0.80722	D	1	B;B;B	0.12630	0.006;0.003;0.006	B;B;B	0.14578	0.005;0.011;0.005	T	0.06534	-1.0821	10	0.51188	T	0.08	-30.0777	10.5867	0.45286	0.0:0.4439:0.0:0.5561	.	292;292;323	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	H	323;292;292	ENSP00000264808:Q323H;ENSP00000422309:Q292H;ENSP00000404832:Q292H	ENSP00000264808:Q323H	Q	-	3	2	PRDM5	121940327	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	0.359000	0.20233	0.196000	0.20367	0.533000	0.62120	CAA		0.299	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			10	19	0	0	0	1	0	10	19				
PPIH	10465	broad.mit.edu	37	1	43124947	43124947	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43124947C>A	ENST00000304979.3	+	3	177				PPIH_ENST00000372549.1_Missense_Mutation_p.F34L|PPIH_ENST00000455203.2_5'UTR|PPIH_ENST00000372550.1_5'UTR	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|ribonucleoprotein complex binding (GO:0043021)			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	TGTTTGACTTCTTTGCCTGCT	0.478																																					NSCLC(73;23 1942 10718 46854)	ENST00000372549.1																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(100-102)ttC>ttA		peptidylprolyl isomerase H (cyclophilin H)	L-Proline(DB00172)						200.0	196.0	198.0					1																	43124947		2203	4300	6503	SO:0001627	intron_variant	10465				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding	g.chr1:43124947C>A	AF016371	CCDS469.1	1p34.1	2012-06-07	2006-01-12		ENSG00000171960	ENSG00000171960			14651	protein-coding gene	gene with protein product	"""USA-CyP SnuCyp-20"", ""cyclophilin H"", ""U-snRNP-associated cyclophilin SunCyp-20"", ""small nuclear ribonucleoprotein particle-specific cyclophilin H"", ""rotamase H"", ""peptidyl-prolyl cis-trans isomerase H"", ""PPIase h"""	606095	"""peptidyl prolyl isomerase H (cyclophilin H)"""			9404889, 9570313	Standard	NM_006347		Approved	USA-CYP, CYP-20, SnuCyp-20, CYPH, MGC5016	uc001chq.3	O43447	OTTHUMG00000007520	ENST00000304979.3:c.155+25C>A	1.37:g.43124947C>A						PPIH_ENST00000455203.2_5'UTR|PPIH_ENST00000372550.1_5'UTR|PPIH_ENST00000304979.3_Intron	p.F34L			O43447	PPIH_HUMAN			2	238	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	0			PPIase cyclophilin-type.		A6NNE7	Missense_Mutation	SNP	ENST00000304979.3	37	c.102C>A	CCDS469.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787715	0.49997	.	.	ENSG00000171960	ENST00000372549	T	0.42513	0.97	4.92	-5.5	0.02576	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	T	0.45366	-0.9266	6	0.87932	D	0	.	3.7148	0.08434	0.108:0.2625:0.1068:0.5228	.	.	.	.	L	34	ENSP00000361629:F34L	ENSP00000361629:F34L	F	+	3	2	PPIH	42897534	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-2.011000	0.01452	-1.031000	0.03308	-0.345000	0.07892	TTC		0.478	PPIH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019778.1	NM_006347		47	94	1	0	4.10826e-27	1	5.81883e-27	47	94				
TTN	7273	broad.mit.edu	37	2	179629268	179629268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179629268G>T	ENST00000591111.1	-	42	10198	c.9974C>A	c.(9973-9975)tCa>tAa	p.S3325*	TTN_ENST00000589042.1_Nonsense_Mutation_p.S3325*|TTN_ENST00000342992.6_Nonsense_Mutation_p.S3325*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.S3325*|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S3279*|TTN_ENST00000359218.5_Nonsense_Mutation_p.S3279*|TTN_ENST00000342175.6_Nonsense_Mutation_p.S3279*			Q8WZ42	TITIN_HUMAN	titin	13652	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGAGAGTGAAGCTGATGT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9973-9975)tCa>tAa		titin							132.0	128.0	129.0					2																	179629268		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629268G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9974C>A	2.37:g.179629268G>T	ENSP00000465570:p.Ser3325*					TTN_ENST00000342175.6_Nonsense_Mutation_p.S3279*|TTN_ENST00000359218.5_Nonsense_Mutation_p.S3279*|TTN_ENST00000342992.6_Nonsense_Mutation_p.S3325*|TTN_ENST00000360870.5_Nonsense_Mutation_p.S3325*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S3279*|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.S3325*	p.S3325*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		42	10198	-			3050			Ig-like 19.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.9974C>A		.	.	.	.	.	.	.	.	.	.	G	52	19.442070	0.99919	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.821	0.96592	0.0:0.0:1.0:0.0	.	.	.	.	X	3325;3279;3279;3279;3279;3325	.	ENSP00000340554:S3279X	S	-	2	0	TTN	179337513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.683000	0.91414	0.655000	0.94253	TCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	71	1	0	7.11191e-15	1	9.30872e-15	34	71				
PPIP5K2	23262	broad.mit.edu	37	5	102519017	102519017	+	Missense_Mutation	SNP	G	G	A	rs144678063		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102519017G>A	ENST00000358359.3	+	25	3514	c.3005G>A	c.(3004-3006)cGa>cAa	p.R1002Q	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.R1002Q|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R1002Q	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1002					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTGGGCGTCGAAGACGCAGA	0.512																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3004-3006)cGa>cAa		diphosphoinositol pentakisphosphate kinase 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	95.0	97.0		3005	5.8	1.0	5	dbSNP_134	97	0,8600		0,0,4300	no	missense	PPIP5K2	NM_015216.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1002/1223	102519017	1,13005	2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102519017G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3005G>A	5.37:g.102519017G>A	ENSP00000351126:p.Arg1002Gln					PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.R1002Q|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R1002Q	p.R1002Q			O43314	VIP2_HUMAN			25	3578	+			1002					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.3005G>A		.	.	.	.	.	.	.	.	.	.	G	14.24	2.477120	0.44044	2.27E-4	0.0	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.15603	2.41;2.42;2.41	5.76	5.76	0.90799	.	0.000000	0.48286	D	0.000194	T	0.37376	0.1001	L	0.56769	1.78	0.51012	D	0.999903	D;P	0.69078	0.997;0.701	D;B	0.69479	0.964;0.138	T	0.02574	-1.1139	10	0.13853	T	0.58	-7.175	19.9576	0.97228	0.0:0.0:1.0:0.0	.	1002;1002	O43314-2;O43314	.;VIP2_HUMAN	Q	1002;1002;1017;1002	ENSP00000313070:R1002Q;ENSP00000351126:R1002Q;ENSP00000416016:R1002Q	ENSP00000313070:R1002Q	R	+	2	0	PPIP5K2	102546916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.030000	0.88816	2.706000	0.92434	0.591000	0.81541	CGA		0.512	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		18	31	0	0	0	1	0	18	31				
RNF146	81847	broad.mit.edu	37	6	127608732	127608732	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:127608732G>A	ENST00000368314.1	+	3	1398	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.R325Q|RNF146_ENST00000608991.1_Missense_Mutation_p.R324Q|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000309649.3_Missense_Mutation_p.R324Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	325					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GTACCCGATCGATCAGATCGA	0.488																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(973-975)cGa>cAa		ring finger protein 146							84.0	82.0	83.0					6																	127608732		2203	4300	6503	SO:0001583	missense	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608732G>A	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.974G>A	6.37:g.127608732G>A	ENSP00000357297:p.Arg325Gln					RNF146_ENST00000356799.2_Missense_Mutation_p.R324Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R324Q	p.R325Q	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	1398	+			325					E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	c.974G>A	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465867	0.26335	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.21932	1.98;1.98;1.98	4.28	2.44	0.29823	.	0.849862	0.09622	N	0.777458	T	0.03390	0.0098	N	0.08118	0	0.22601	N	0.998946	B	0.02656	0.0	B	0.01281	0.0	T	0.45425	-0.9262	10	0.30078	T	0.28	-1.7968	9.2729	0.37681	0.1684:0.0:0.8316:0.0	.	325	Q9NTX7	RN146_HUMAN	Q	325;324;324	ENSP00000357297:R325Q;ENSP00000349253:R324Q;ENSP00000309365:R324Q	ENSP00000309365:R324Q	R	+	2	0	RNF146	127650425	0.010000	0.17322	0.129000	0.21949	0.078000	0.17371	-0.280000	0.08468	0.551000	0.29008	0.585000	0.79938	CGA		0.488	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		19	47	0	0	0	1	0	19	47				
BRD8	10902	broad.mit.edu	37	5	137488401	137488401	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137488401C>A	ENST00000254900.5	-	21	2997	c.2626G>T	c.(2626-2628)Gac>Tac	p.D876Y		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	876					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.D876Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACTCAGAGTCATTGGGATGA	0.458																																						ENST00000254900.5																			1	Substitution - Missense(1)	p.D876Y(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(2626-2628)Gac>Tac		bromodomain containing 8							125.0	124.0	124.0					5																	137488401		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137488401C>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2626G>T	5.37:g.137488401C>A	ENSP00000254900:p.Asp876Tyr						p.D876Y	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		21	2997	-			876					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.2626G>T	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801746	0.70682	.	.	ENSG00000112983	ENST00000254900	T	0.35421	1.31	5.39	5.39	0.77823	.	0.217349	0.29572	N	0.011766	T	0.40767	0.1130	L	0.27053	0.805	0.80722	D	1	D	0.59767	0.986	P	0.54499	0.754	T	0.23084	-1.0198	10	0.62326	D	0.03	-0.3705	16.0138	0.80422	0.0:1.0:0.0:0.0	.	876	Q9H0E9	BRD8_HUMAN	Y	876	ENSP00000254900:D876Y	ENSP00000254900:D876Y	D	-	1	0	BRD8	137516300	0.943000	0.32029	1.000000	0.80357	0.935000	0.57460	0.943000	0.29030	2.795000	0.96236	0.655000	0.94253	GAC		0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		8	109	1	0	0.27861	1	0.279356	8	109				
PLEKHS1	79949	broad.mit.edu	37	10	115527103	115527103	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115527103G>T	ENST00000369310.3	+	4	768		c.e4-1		PLEKHS1_ENST00000361048.1_Splice_Site|PLEKHS1_ENST00000369312.4_Splice_Site	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1																		ATATCTAATAGAAATTCCAGT	0.338																																						ENST00000361048.1																			0											c.e5-1		pleckstrin homology domain containing, family S member 1							58.0	60.0	59.0					10																	115527103		2202	4300	6502	SO:0001630	splice_region_variant	79949							g.chr10:115527103G>T	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.207-1G>T	10.37:g.115527103G>T						PLEKHS1_ENST00000369310.3_Splice_Site|PLEKHS1_ENST00000369312.4_Splice_Site		NM_024889.4	NP_079165.3					5	551	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Splice_Site	SNP	ENST00000369310.3	37		CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697896	0.48307	.	.	ENSG00000148735	ENST00000361048;ENST00000369310	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9613	0.89086	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf81	115517093	1.000000	0.71417	0.947000	0.38551	0.556000	0.35491	5.815000	0.69215	2.768000	0.95171	0.655000	0.94253	.		0.338	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889	Intron	7	17	1	0	8.12818e-05	1	8.79784e-05	7	17				
PCDHGA2	56113	broad.mit.edu	37	5	140718783	140718783	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140718783G>A	ENST00000394576.2	+	1	245	c.245G>A	c.(244-246)gGc>gAc	p.G82D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	82	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAAGCGGCAGCTTGGTC	0.572																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(244-246)gGc>gAc									61.0	65.0	64.0					5																	140718783		2203	4300	6503	SO:0001583	missense	0							g.chr5:140718783G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.245G>A	5.37:g.140718783G>A	ENSP00000378077:p.Gly82Asp					PCDHGA1_ENST00000517417.1_Intron	p.G82D	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	245	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.245G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	19.61	3.859200	0.71834	.	.	ENSG00000081853	ENST00000394576	T	0.40476	1.03	5.08	5.08	0.68730	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.42172	U	0.000748	D	0.82531	0.5057	H	0.99924	4.96	0.47949	D	0.999558	D;D	0.76494	0.998;0.999	D;D	0.85130	0.993;0.997	D	0.91436	0.5170	10	0.87932	D	0	.	18.4313	0.90627	0.0:0.0:1.0:0.0	.	82;82	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	D	82	ENSP00000378077:G82D	ENSP00000378077:G82D	G	+	2	0	PCDHGA2	140698967	1.000000	0.71417	0.997000	0.53966	0.427000	0.31564	9.629000	0.98417	2.525000	0.85131	0.591000	0.81541	GGC		0.572	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		47	99	0	0	0	1	0	47	99				
DNAJC27	51277	broad.mit.edu	37	2	25194715	25194715	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25194715A>G	ENST00000264711.2	-	1	248	c.59T>C	c.(58-60)aTc>aCc	p.I20T	DNAJC27-AS1_ENST00000421904.1_RNA|DNAJC27-AS1_ENST00000422449.1_RNA|DNAJC27_ENST00000468467.1_5'Flank|DNAJC27_ENST00000534855.1_5'Flank|DNAJC27-AS1_ENST00000445389.1_RNA|DNAJC27-AS1_ENST00000434897.1_RNA|DNAJC27-AS1_ENST00000451291.1_RNA|SNORD14_ENST00000365609.1_RNA|DNAJC27-AS1_ENST00000428614.1_RNA|DNAJC27-AS1_ENST00000421842.1_RNA	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	20					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCCCATGGAGATGACTTTGAT	0.677																																						ENST00000264711.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(58-60)aTc>aCc		DnaJ (Hsp40) homolog, subfamily C, member 27							50.0	44.0	46.0					2																	25194715		2203	4300	6503	SO:0001583	missense	51277				protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding	g.chr2:25194715A>G		CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.59T>C	2.37:g.25194715A>G	ENSP00000264711:p.Ile20Thr					DNAJC27-AS1_ENST00000451291.1_RNA|DNAJC27-AS1_ENST00000421904.1_RNA	p.I20T	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN			1	248	-			20					Q5JV88|Q86Y24	Missense_Mutation	SNP	ENST00000264711.2	37	c.59T>C	CCDS1716.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.043096	0.93685	.	.	ENSG00000115137	ENST00000264711	T	0.79845	-1.31	6.03	6.03	0.97812	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89491	0.6730	M	0.88842	2.985	0.80722	D	1	P;P	0.47604	0.875;0.898	P;P	0.57204	0.719;0.815	D	0.91152	0.4954	10	0.87932	D	0	-25.1563	13.9314	0.63998	1.0:0.0:0.0:0.0	.	20;20	Q9NZQ0-3;Q9NZQ0	.;DJC27_HUMAN	T	20	ENSP00000264711:I20T	ENSP00000264711:I20T	I	-	2	0	DNAJC27	25048219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.512000	0.73737	2.308000	0.77769	0.533000	0.62120	ATC		0.677	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246855.3	NM_016544		11	17	0	0	0	1	0	11	17				
ABCC2	1244	broad.mit.edu	37	10	101605492	101605492	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101605492T>C	ENST00000370449.4	+	29	4212	c.4099T>C	c.(4099-4101)Tcc>Ccc	p.S1367P		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1367	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGATATTGCTTCCATTGGGCT	0.527											OREG0020434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(4099-4101)Tcc>Ccc		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						105.0	90.0	95.0					10																	101605492		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101605492T>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4099T>C	10.37:g.101605492T>C	ENSP00000359478:p.Ser1367Pro		OREG0020434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360		p.S1367P	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	29	4212	+		Colorectal(252;0.234)	1367			ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.4099T>C	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.817260	0.70912	.	.	ENSG00000023839	ENST00000370449	D	0.90788	-2.73	5.61	5.61	0.85477	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.147314	0.64402	D	0.000016	D	0.91646	0.7360	L	0.45137	1.4	0.80722	D	1	D	0.59767	0.986	D	0.63703	0.917	D	0.91235	0.5017	10	0.51188	T	0.08	-0.2976	9.6856	0.40096	0.2573:0.0:0.0:0.7427	.	1367	Q92887	MRP2_HUMAN	P	1367	ENSP00000359478:S1367P	ENSP00000359478:S1367P	S	+	1	0	ABCC2	101595482	0.142000	0.22610	1.000000	0.80357	0.906000	0.53458	3.090000	0.50191	2.254000	0.74563	0.533000	0.62120	TCC		0.527	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		12	16	0	0	0	1	0	12	16				
PPM1M	132160	broad.mit.edu	37	3	52283790	52283790	+	3'UTR	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52283790T>G	ENST00000296487.4	+	0	1608				PPM1M_ENST00000409502.3_Missense_Mutation_p.I235S|PPM1M_ENST00000323588.4_Missense_Mutation_p.I286S|PPM1M_ENST00000457351.2_Missense_Mutation_p.I447S			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M						protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GTGTTCGTGATTCCCTTGCAC	0.552																																					NSCLC(151;810 2688 34365 49863)	ENST00000323588.4																			0				prostate(1)|urinary_tract(1)	2						c.(856-858)aTt>aGt		protein phosphatase, Mg2+/Mn2+ dependent, 1M							82.0	71.0	75.0					3																	52283790		1568	3582	5150	SO:0001624	3_prime_UTR_variant	132160				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding	g.chr3:52283790T>G	AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26506	protein-coding gene	gene with protein product	"""protein phosphatase 2C eta"""	608979	"""protein phosphatase 1M (PP2C domain containing)"""			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.*391T>G	3.37:g.52283790T>G						PPM1M_ENST00000296487.4_3'UTR|PPM1M_ENST00000457351.2_Missense_Mutation_p.I447S|PPM1M_ENST00000409502.3_Missense_Mutation_p.I235S	p.I286S			Q96MI6	PPM1M_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)	10	1222	+			0					Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000296487.4	37	c.857T>G		.	.	.	.	.	.	.	.	.	.	T	21.8	4.208236	0.79240	.	.	ENSG00000164088	ENST00000457351;ENST00000409502;ENST00000323588	T;T;T	0.13196	2.61;2.61;2.61	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000038	T	0.32912	0.0845	L	0.58810	1.83	0.54753	D	0.999982	D;D	0.76494	0.998;0.999	D;D	0.80764	0.986;0.994	T	0.03514	-1.1029	10	0.87932	D	0	-8.053	13.4901	0.61390	0.0:0.0:0.0:1.0	.	447;157	B7XGB9;Q96MI6-3	.;.	S	447;235;286	ENSP00000393747:I447S;ENSP00000387046:I235S;ENSP00000319894:I286S	ENSP00000319894:I286S	I	+	2	0	PPM1M	52258830	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.069000	0.64370	2.117000	0.64856	0.459000	0.35465	ATT		0.552	PPM1M-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000329230.2	NM_144641		7	39	0	0	0	1	0	7	39				
HARS	3035	broad.mit.edu	37	5	140057544	140057544	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140057544C>A	ENST00000504156.1	-	6	1298	c.579G>T	c.(577-579)aaG>aaT	p.K193N	HARS_ENST00000415192.2_Missense_Mutation_p.K119N|HARS_ENST00000448240.1_Missense_Mutation_p.K31N|HARS_ENST00000504366.1_Missense_Mutation_p.K124N|HARS_ENST00000307633.3_Missense_Mutation_p.K133N|HARS_ENST00000438307.2_Missense_Mutation_p.K153N|HARS_ENST00000457527.2_Missense_Mutation_p.K173N|HARS_ENST00000431330.2_Missense_Mutation_p.K79N	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	193					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CGCACATGATCTTCAGGCACT	0.532																																						ENST00000504366.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(370-372)aaG>aaT		histidyl-tRNA synthetase	L-Histidine(DB00117)						77.0	70.0	72.0					5																	140057544		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140057544C>A	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.579G>T	5.37:g.140057544C>A	ENSP00000425634:p.Lys193Asn					HARS_ENST00000504156.1_Missense_Mutation_p.K193N|HARS_ENST00000415192.2_Missense_Mutation_p.K119N|HARS_ENST00000438307.2_Missense_Mutation_p.K153N|HARS_ENST00000431330.2_Missense_Mutation_p.K79N|HARS_ENST00000307633.3_Missense_Mutation_p.K133N|HARS_ENST00000457527.2_Missense_Mutation_p.K173N|HARS_ENST00000448240.1_Missense_Mutation_p.K31N	p.K124N			P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	2191	-			193					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.372G>T	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125848	0.77436	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192	T;T;T;T;T;T;T;T	0.63744	0.95;0.95;0.95;0.95;0.95;-0.06;0.95;0.95	5.35	2.57	0.30868	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.042604	0.85682	D	0.000000	T	0.70133	0.3189	M	0.64630	1.985	0.80722	D	1	P;P;D;D;P;D;D	0.67145	0.585;0.617;0.996;0.996;0.923;0.992;0.961	B;P;P;P;P;P;P	0.62298	0.403;0.583;0.9;0.9;0.694;0.9;0.9	T	0.69405	-0.5154	10	0.52906	T	0.07	-6.823	9.2934	0.37800	0.0:0.7095:0.0:0.2905	.	79;119;133;153;193;173;193	B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;SYHC_HUMAN	N	193;173;79;124;133;31;153;119	ENSP00000425634:K193N;ENSP00000387893:K173N;ENSP00000393244:K79N;ENSP00000430063:K124N;ENSP00000304668:K133N;ENSP00000413605:K31N;ENSP00000411511:K153N;ENSP00000411085:K119N	ENSP00000304668:K133N	K	-	3	2	HARS	140037728	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	0.300000	0.19156	0.745000	0.32763	0.655000	0.94253	AAG		0.532	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		16	30	1	0	1.02788e-11	1	1.28326e-11	16	30				
TSC22D1	8848	broad.mit.edu	37	13	45010884	45010884	+	Intron	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45010884A>C	ENST00000458659.2	-	2	3403				RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000261489.2_De_novo_Start_OutOfFrame|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1						negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CGGCAGCCCTAATTTAAAGAA	0.537																																						ENST00000261489.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27								TSC22 domain family, member 1																																				SO:0001627	intron_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45010884A>C	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2913-653T>G	13.37:g.45010884A>C						TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000458659.2_Intron		NM_006022.3	NP_006013.1	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	0	97	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)						B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Translation_Start_Site	SNP	ENST00000458659.2	37		CCDS31966.1																																																																																				0.537	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		12	43	0	0	0	1	0	12	43				
KMT2E	55904	broad.mit.edu	37	7	104746064	104746064	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:104746064G>T	ENST00000311117.3	+	18	2920	c.2375G>T	c.(2374-2376)aGa>aTa	p.R792I	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Missense_Mutation_p.R792I|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.R792I	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	792					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R792K(1)									CATTATATTAGATTTACTTCA	0.368																																						ENST00000334877.4																			1	Substitution - Missense(1)	p.R792K(1)	breast(1)								c.(2374-2376)aGa>aTa		lysine (K)-specific methyltransferase 2E							113.0	113.0	113.0					7																	104746064		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104746064G>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2375G>T	7.37:g.104746064G>T	ENSP00000312379:p.Arg792Ile					KMT2E_ENST00000257745.4_Missense_Mutation_p.R792I|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Missense_Mutation_p.R792I	p.R792I							18	2909	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.2375G>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093546	0.76756	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.94650	-3.48;-2.99;-3.48	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.96691	0.8920	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96567	0.9420	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	792	Q8IZD2	MLL5_HUMAN	I	792;792;792;712;792	ENSP00000312379:R792I;ENSP00000335599:R792I;ENSP00000257745:R792I	ENSP00000257745:R792I	R	+	2	0	MLL5	104533300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.198000	0.94994	2.873000	0.98535	0.563000	0.77884	AGA		0.368	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			11	82	1	0	0.0692343	1	0.0701576	11	82				
SERPINI2	5276	broad.mit.edu	37	3	167185068	167185068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167185068C>A	ENST00000476257.1	-	4	551	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	SERPINI2_ENST00000465031.1_5'Flank|SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.E85*|SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.E85*|SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.E85*			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	85					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACAAAAAATTCTTCCCCTAGA	0.328																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(253-255)Gaa>Taa		serpin peptidase inhibitor, clade I (pancpin), member 2							48.0	51.0	50.0					3																	167185068		2183	4290	6473	SO:0001587	stop_gained	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167185068C>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.253G>T	3.37:g.167185068C>A	ENSP00000420621:p.Glu85*					SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.E85*|SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.E85*|SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.E85*	p.E85*			O75830	SPI2_HUMAN			4	551	-			85						Nonsense_Mutation	SNP	ENST00000476257.1	37	c.253G>T	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333828	0.81801	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903	.	.	.	5.41	5.41	0.78517	.	0.052461	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.2063	0.93732	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000264677:E85X	E	-	1	0	SERPINI2	168667762	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	5.313000	0.65798	2.556000	0.86216	0.655000	0.94253	GAA		0.328	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		7	18	1	0	0.00198382	1	0.00207034	7	18				
C8orf33	65265	broad.mit.edu	37	8	146279537	146279537	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:146279537C>A	ENST00000331434.6	+	5	798	c.684C>A	c.(682-684)ttC>ttA	p.F228L		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	228										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GGTTCAATTTCTTTTAGCGTC	0.512																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(682-684)ttC>ttA		chromosome 8 open reading frame 33							157.0	153.0	154.0					8																	146279537		2203	4300	6503	SO:0001583	missense	65265							g.chr8:146279537C>A		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.684C>A	8.37:g.146279537C>A	ENSP00000330361:p.Phe228Leu						p.F228L	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	5	798	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		228					A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	c.684C>A	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	18.27	3.586862	0.66105	.	.	ENSG00000182307	ENST00000331434	.	.	.	3.45	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	L	0.34521	1.04	0.43593	D	0.995949	D	0.67145	0.996	D	0.73380	0.98	T	0.49960	-0.8883	8	.	.	.	-14.887	6.6732	0.23080	0.0:0.8683:0.0:0.1317	.	228	Q9H7E9	CH033_HUMAN	L	228	.	.	F	+	3	2	C8orf33	146250341	0.987000	0.35691	1.000000	0.80357	0.794000	0.44872	-0.205000	0.09411	1.036000	0.39998	0.655000	0.94253	TTC		0.512	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		55	114	1	0	1.27862e-28	1	1.81741e-28	55	114				
TRAF3IP3	80342	broad.mit.edu	37	1	209933532	209933532	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209933532A>G	ENST00000367024.1	+	3	664	c.148A>G	c.(148-150)Agg>Ggg	p.R50G	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R50G			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	50						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAAGACGCTGAGGATCCAACA	0.597																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(148-150)Agg>Ggg		TRAF3 interacting protein 3							41.0	46.0	44.0					1																	209933532		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209933532A>G		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.148A>G	1.37:g.209933532A>G	ENSP00000355991:p.Arg50Gly					TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R50G	p.R50G			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	664	+			50					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.148A>G	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414266	0.42817	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.52983	0.64;0.84;0.68;0.84;0.68	5.4	2.94	0.34122	.	0.239095	0.37136	N	0.002234	T	0.54208	0.1844	L	0.50919	1.6	0.20563	N	0.999881	D;D;D;D	0.89917	0.999;0.999;1.0;0.982	D;D;D;P	0.83275	0.994;0.994;0.996;0.832	T	0.47861	-0.9084	10	0.07644	T	0.81	-16.2181	9.5669	0.39405	0.6581:0.3419:0.0:0.0	.	50;50;50;50	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	G	50	ENSP00000383743:R50G;ENSP00000355992:R50G;ENSP00000355993:R50G;ENSP00000355991:R50G;ENSP00000010338:R50G	ENSP00000010338:R50G	R	+	1	2	TRAF3IP3	208000155	0.715000	0.27946	0.874000	0.34290	0.951000	0.60555	1.490000	0.35573	0.294000	0.22547	0.379000	0.24179	AGG		0.597	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			14	31	0	0	0	1	0	14	31				
SERPINB3	6317	broad.mit.edu	37	18	61324590	61324590	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61324590G>T	ENST00000283752.5	-	6	669	c.526C>A	c.(526-528)Ctt>Att	p.L176I	SERPINB3_ENST00000332821.8_Missense_Mutation_p.L176I|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	176					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCGTTCACAAGAACCAATGTG	0.323																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(526-528)Ctt>Att		serpin peptidase inhibitor, clade B (ovalbumin), member 3							101.0	102.0	102.0					18																	61324590		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61324590G>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.526C>A	18.37:g.61324590G>T	ENSP00000283752:p.Leu176Ile					SERPINB3_ENST00000332821.8_Missense_Mutation_p.L176I|SERPINB11_ENST00000489748.1_RNA	p.L176I	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN			6	669	-			176					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.526C>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264213	0.39995	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.89552	-2.53;-2.53	2.74	1.86	0.25419	Serpin domain (3);	0.000000	0.32258	N	0.006359	D	0.92120	0.7502	M	0.80028	2.48	0.29543	N	0.851938	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.992;0.992	D	0.85517	0.1201	10	0.87932	D	0	.	2.9907	0.05982	0.2828:0.2403:0.4768:0.0	.	176;176;176	P29508-2;P29508;Q5K684	.;SPB3_HUMAN;.	I	176	ENSP00000283752:L176I;ENSP00000329498:L176I	ENSP00000283752:L176I	L	-	1	0	SERPINB3	59475570	0.278000	0.24230	0.317000	0.25265	0.075000	0.17131	0.629000	0.24538	0.717000	0.32145	0.455000	0.32223	CTT		0.323	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		4	65	1	0	1	1	1	4	65				
SGK3	23678	broad.mit.edu	37	8	67710856	67710856	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67710856A>C	ENST00000396596.1	+	3	390	c.176A>C	c.(175-177)aAc>aCc	p.N59T	C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.N59T|SGK3_ENST00000522398.1_Missense_Mutation_p.N59T|SGK3_ENST00000345714.4_Missense_Mutation_p.N59T|SGK3_ENST00000520976.1_Missense_Mutation_p.N59T|SGK3_ENST00000521198.2_Missense_Mutation_p.N59T	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	59	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAACTTTATAACACTGTAAGT	0.308																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(175-177)aAc>aCc		serum/glucocorticoid regulated kinase family, member 3							141.0	152.0	148.0					8																	67710856		2203	4299	6502	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67710856A>C		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.176A>C	8.37:g.67710856A>C	ENSP00000379842:p.Asn59Thr					SGK3_ENST00000345714.4_Missense_Mutation_p.N59T|SGK3_ENST00000520976.1_Missense_Mutation_p.N59T|SGK3_ENST00000522398.1_Missense_Mutation_p.N59T|SGK3_ENST00000521198.2_Missense_Mutation_p.N59T|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.N59T	p.N59T	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		3	390	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	59			PX.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.176A>C	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641674	0.67244	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000518388;ENST00000345714	T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.71	5.71	0.89125	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	L	0.41961	1.31	0.47994	D	0.999564	B;B	0.26512	0.125;0.151	B;B	0.26416	0.041;0.069	T	0.35624	-0.9781	9	0.23302	T	0.38	.	14.9539	0.71098	1.0:0.0:0.0:0.0	.	59;59	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	T	59	ENSP00000429022:N59T;ENSP00000430463:N59T;ENSP00000430256:N59T;ENSP00000429606:N59T;ENSP00000430691:N59T;ENSP00000379842:N59T;ENSP00000428972:N59T;ENSP00000331816:N59T	ENSP00000262211:N59T	N	+	2	0	SGK3	67873410	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.398000	0.90195	2.165000	0.68154	0.528000	0.53228	AAC		0.308	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			46	61	0	0	0	1	0	46	61				
ARHGEF9	23229	broad.mit.edu	37	X	62893985	62893985	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:62893985T>G	ENST00000253401.6	-	6	1657	c.857A>C	c.(856-858)gAa>gCa	p.E286A	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E184A|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.E57A|ARHGEF9-IT1_ENST00000420917.1_RNA|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E265A|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E233A|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E284A	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	286	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TCGCTTGCGTTCGTTGATCTG	0.458																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(856-858)gAa>gCa		Cdc42 guanine nucleotide exchange factor (GEF) 9							116.0	86.0	96.0					X																	62893985		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62893985T>G	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.857A>C	X.37:g.62893985T>G	ENSP00000253401:p.Glu286Ala					ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E233A|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E265A|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E184A|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.E57A|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E284A	p.E286A	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			6	1657	-			286			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.857A>C	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681348	0.88542	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.61	5.61	0.85477	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.89434	0.6714	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.92722	0.6192	10	0.87932	D	0	.	13.5465	0.61707	0.0:0.0:0.0:1.0	.	233;284;286;286	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	A	286;284;233;184;57;265	ENSP00000253401:E286A;ENSP00000364012:E284A;ENSP00000399994:E233A;ENSP00000364004:E184A;ENSP00000404478:E57A;ENSP00000364006:E265A	ENSP00000253401:E286A	E	-	2	0	ARHGEF9	62810710	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.501000	0.81600	1.879000	0.54435	0.486000	0.48141	GAA		0.458	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			9	58	0	0	0	1	0	9	58				
ARHGEF40	55701	broad.mit.edu	37	14	21542507	21542507	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21542507C>T	ENST00000298694.4	+	3	745	c.618C>T	c.(616-618)ccC>ccT	p.P206P	ARHGEF40_ENST00000298693.3_Silent_p.P206P			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	206						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CAGAACTGCCCTCTGGACCTC	0.622																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(616-618)ccC>ccT		Rho guanine nucleotide exchange factor (GEF) 40							51.0	50.0	50.0					14																	21542507		2203	4300	6503	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542507C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.618C>T	14.37:g.21542507C>T						ARHGEF40_ENST00000298693.3_Silent_p.P206P	p.P206P			Q8TER5	ARH40_HUMAN			3	745	+			206					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.618C>T	CCDS32041.1																																																																																				0.622	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			18	42	0	0	0	1	0	18	42				
POFUT1	23509	broad.mit.edu	37	20	30797902	30797902	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30797902C>A	ENST00000375749.3	+	2	215	c.153C>A	c.(151-153)ttC>ttA	p.F51L	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.F51L|PLAGL2_ENST00000246229.4_5'Flank|POFUT1_ENST00000486717.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	51					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCGATCACTTCTTGGGCTCTC	0.552																																						ENST00000375749.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6						c.(151-153)ttC>ttA		protein O-fucosyltransferase 1							197.0	166.0	176.0					20																	30797902		2203	4300	6503	SO:0001583	missense	23509				fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	g.chr20:30797902C>A	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.153C>A	20.37:g.30797902C>A	ENSP00000364902:p.Phe51Leu					POFUT1_ENST00000375730.3_Missense_Mutation_p.F51L|POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron	p.F51L	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	215	+			51					A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	c.153C>A	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697752	0.48307	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T;T	0.36878	1.23;1.23	5.0	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.79343	2.45	0.80722	D	1	P;D	0.76494	0.922;0.999	P;D	0.83275	0.794;0.996	T	0.55490	-0.8133	10	0.52906	T	0.07	-23.3904	9.4348	0.38632	0.0:0.764:0.0:0.236	.	51;51	Q9H488;Q9H488-2	OFUT1_HUMAN;.	L	51	ENSP00000364902:F51L;ENSP00000364882:F51L	ENSP00000364882:F51L	F	+	3	2	POFUT1	30261563	1.000000	0.71417	0.999000	0.59377	0.136000	0.21042	1.563000	0.36364	0.516000	0.28340	-0.291000	0.09656	TTC		0.552	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		7	129	1	0	8.12818e-05	1	8.79784e-05	7	129				
IGSF10	285313	broad.mit.edu	37	3	151162927	151162927	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151162927C>A	ENST00000282466.3	-	4	4841	c.4842G>T	c.(4840-4842)aaG>aaT	p.K1614N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1614					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTTGTGTTCTTCTGTCCAT	0.418																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(4840-4842)aaG>aaT		immunoglobulin superfamily, member 10							220.0	196.0	204.0					3																	151162927		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151162927C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4842G>T	3.37:g.151162927C>A	ENSP00000282466:p.Lys1614Asn						p.K1614N	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4841	-			1614					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.4842G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853323	0.32791	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.69040	-0.37	5.86	4.04	0.47022	.	0.304440	0.23840	N	0.044059	T	0.40670	0.1126	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.18023	-1.0350	10	0.32370	T	0.25	.	5.0615	0.14559	0.1352:0.596:0.1905:0.0784	.	1614	Q6WRI0	IGS10_HUMAN	N	1614;241	ENSP00000282466:K1614N	ENSP00000282466:K1614N	K	-	3	2	IGSF10	152645617	0.141000	0.22595	0.839000	0.33178	0.937000	0.57800	0.958000	0.29227	0.800000	0.34041	-0.142000	0.14014	AAG		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		33	52	1	0	1.99505e-19	1	2.71627e-19	33	52				
GTF2H4	2968	broad.mit.edu	37	6	30881673	30881673	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30881673G>T	ENST00000259895.4	+	14	1525	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000542001.1_5'Flank|GTF2H4_ENST00000376316.2_Missense_Mutation_p.E434D|VARS2_ENST00000541562.1_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	434					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCGTGTTCGAGAACTCGGCCA	0.632								Nucleotide excision repair (NER)																														ENST00000259895.4																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1300-1302)gaG>gaT	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa							25.0	24.0	24.0					6																	30881673		1509	2709	4218	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30881673G>T	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.1302G>T	6.37:g.30881673G>T	ENSP00000259895:p.Glu434Asp					GTF2H4_ENST00000376316.2_Missense_Mutation_p.E434D	p.E434D	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN			14	1525	+			434					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.1302G>T	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757384	0.69648	.	.	ENSG00000213780	ENST00000259895;ENST00000376316	T;T	0.46819	0.86;0.86	5.86	4.99	0.66335	.	0.234955	0.34460	U	0.003949	T	0.26738	0.0654	L	0.51853	1.615	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.05099	-1.0906	10	0.29301	T	0.29	0.391	12.0017	0.53235	0.0827:0.0:0.9173:0.0	.	434	Q92759	TF2H4_HUMAN	D	434	ENSP00000259895:E434D;ENSP00000365493:E434D	ENSP00000259895:E434D	E	+	3	2	GTF2H4	30989652	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.130000	0.64745	2.778000	0.95560	0.591000	0.81541	GAG		0.632	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		24	7	1	0	3.83957e-06	1	4.27438e-06	24	7				
FANCI	55215	broad.mit.edu	37	15	89817466	89817466	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89817466A>C	ENST00000310775.7	+	12	1129	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	FANCI_ENST00000300027.8_Missense_Mutation_p.K348T	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	348					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAAGGCTCAAAATTTCTTCAG	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1042-1044)aAa>aCa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							52.0	50.0	51.0					15																	89817466		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89817466A>C	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1043A>C	15.37:g.89817466A>C	ENSP00000310842:p.Lys348Thr					FANCI_ENST00000300027.8_Missense_Mutation_p.K348T	p.K348T	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			12	1129	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		348					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.1043A>C	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942662	0.53079	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.71222	-0.54;-0.55;0.18	5.26	4.14	0.48551	.	0.154005	0.56097	D	0.000026	T	0.77226	0.4099	M	0.72118	2.19	0.80722	D	1	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.59424	0.798;0.798;0.857	T	0.73675	-0.3908	10	0.23302	T	0.38	-16.7792	9.5281	0.39175	0.9202:0.0:0.0798:0.0	.	348;348;348	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	T	348	ENSP00000300027:K348T;ENSP00000310842:K348T;ENSP00000413249:K348T	ENSP00000300027:K348T	K	+	2	0	FANCI	87618470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.429000	0.52800	0.970000	0.38263	0.460000	0.39030	AAA		0.328	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		7	9	0	0	0	1	0	7	9				
XPNPEP3	63929	broad.mit.edu	37	22	41318387	41318387	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:41318387G>T	ENST00000357137.4	+	8	1190	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R346I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	369					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGATCCAAAGAGATTGTTTG	0.473																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1105-1107)aGa>aTa		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							180.0	173.0	175.0					22																	41318387		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41318387G>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1106G>T	22.37:g.41318387G>T	ENSP00000349658:p.Arg369Ile					XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R346I	p.R369I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			8	1190	+			369					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1106G>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681639	0.47991	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.76968	-1.06;-1.06	5.85	-2.22	0.06952	Peptidase M24, structural domain (3);	0.606572	0.18502	N	0.139307	T	0.68192	0.2974	L	0.43554	1.36	0.42529	D	0.993038	B	0.25169	0.119	B	0.30782	0.12	T	0.60541	-0.7243	10	0.54805	T	0.06	.	10.9502	0.47325	0.7633:0.0:0.2367:0.0	.	369	Q9NQH7	XPP3_HUMAN	I	369;346	ENSP00000349658:R369I;ENSP00000441942:R346I	ENSP00000349658:R369I	R	+	2	0	XPNPEP3	39648333	0.748000	0.28294	0.085000	0.20634	0.686000	0.39977	0.040000	0.13905	-0.140000	0.11394	-0.140000	0.14226	AGA		0.473	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		5	195	1	0	0.000602214	1	0.000636035	5	195				
TRHDE	29953	broad.mit.edu	37	12	72771853	72771853	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72771853G>T	ENST00000261180.4	+	3	1228	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	378					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						GAGATTAATAGAATTTTATGA	0.328																																						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.(1132-1134)Gaa>Taa		thyrotropin-releasing hormone degrading enzyme							73.0	77.0	76.0					12																	72771853		2203	4295	6498	SO:0001587	stop_gained	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72771853G>T	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.1132G>T	12.37:g.72771853G>T	ENSP00000261180:p.Glu378*						p.E378*	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			3	1228	+			378					A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	c.1132G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	38	6.724357	0.97792	.	.	ENSG00000072657	ENST00000261180	.	.	.	5.57	5.57	0.84162	.	0.125073	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.5437	0.95283	0.0:0.0:1.0:0.0	.	.	.	.	X	378	.	ENSP00000261180:E378X	E	+	1	0	TRHDE	71058120	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.779000	0.68948	2.645000	0.89757	0.585000	0.79938	GAA		0.328	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		14	53	1	0	0.00400662	1	0.0041636	14	53				
PLCE1	51196	broad.mit.edu	37	10	96073057	96073057	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96073057C>T	ENST00000371380.3	+	27	6285	c.6050C>T	c.(6049-6051)aCg>aTg	p.T2017M	PLCE1_ENST00000371385.3_Missense_Mutation_p.T1709M|RP11-76P2.4_ENST00000609123.1_RNA|PLCE1_ENST00000260766.3_Missense_Mutation_p.T2017M|PLCE1_ENST00000371375.1_Missense_Mutation_p.T1709M			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2017	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CACAGAGTCACGGTGCATGGG	0.458																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(6049-6051)aCg>aTg		phospholipase C, epsilon 1							126.0	125.0	125.0					10																	96073057		1909	4122	6031	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96073057C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6050C>T	10.37:g.96073057C>T	ENSP00000360431:p.Thr2017Met					PLCE1_ENST00000371380.2_Missense_Mutation_p.T2017M|PLCE1_ENST00000371385.3_Missense_Mutation_p.T1709M|PLCE1_ENST00000371375.1_Missense_Mutation_p.T1709M	p.T2017M	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			28	6684	+		Colorectal(252;0.0458)	2017			Ras-associating 1.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.6050C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651406	0.88056	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.27402	1.67;1.67;1.68;1.68	5.6	5.6	0.85130	.	0.053822	0.64402	D	0.000001	T	0.46483	0.1395	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.17167	-1.0378	10	0.30854	T	0.27	.	19.2384	0.93871	0.0:1.0:0.0:0.0	.	2001;1709;2017	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	M	2017;2017;1709;1709	ENSP00000260766:T2017M;ENSP00000360431:T2017M;ENSP00000360438:T1709M;ENSP00000360426:T1709M	ENSP00000260766:T2017M	T	+	2	0	PLCE1	96063047	1.000000	0.71417	0.994000	0.49952	0.949000	0.60115	7.507000	0.81676	2.648000	0.89879	0.650000	0.86243	ACG		0.458	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		30	66	0	0	0	1	0	30	66				
CHD8	57680	broad.mit.edu	37	14	21859710	21859710	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21859710A>C	ENST00000557364.1	-	36	7240	c.6977T>G	c.(6976-6978)cTg>cGg	p.L2326R	CHD8_ENST00000430710.3_Missense_Mutation_p.L2047R|CHD8_ENST00000399982.2_Missense_Mutation_p.L2326R|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2326					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTCACCCACCAGCAAAGTACC	0.552																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6976-6978)cTg>cGg		chromodomain helicase DNA binding protein 8							46.0	47.0	46.0					14																	21859710		2029	4182	6211	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21859710A>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6977T>G	14.37:g.21859710A>C	ENSP00000451601:p.Leu2326Arg					CHD8_ENST00000557364.1_Missense_Mutation_p.L2326R|CHD8_ENST00000430710.3_Missense_Mutation_p.L2047R	p.L2326R	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	35	7041	-	all_cancers(95;0.00121)		2326					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.6977T>G	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951989	0.73787	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.63255	-0.03;-0.03;-0.03	5.42	5.42	0.78866	.	0.407359	0.24189	N	0.040731	T	0.74412	0.3713	L	0.52011	1.625	0.48632	D	0.999681	D	0.76494	0.999	D	0.83275	0.996	T	0.76691	-0.2866	10	0.87932	D	0	-9.2109	14.5778	0.68262	1.0:0.0:0.0:0.0	.	2047	Q9HCK8-2	.	R	2047;2326;2046;2326	ENSP00000406288:L2047R;ENSP00000382863:L2326R;ENSP00000451601:L2326R	ENSP00000262707:L2046R	L	-	2	0	CHD8	20929550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.340000	0.90044	2.274000	0.75844	0.533000	0.62120	CTG		0.552	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		12	28	0	0	0	1	0	12	28				
CEP250	11190	broad.mit.edu	37	20	34091280	34091280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:34091280C>T	ENST00000397527.1	+	30	5803	c.5083C>T	c.(5083-5085)Cga>Tga	p.R1695*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.R1639*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1695	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTGAGAGAGCGAGGCCGGGA	0.592																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5083-5085)Cga>Tga		centrosomal protein 250kDa							88.0	93.0	92.0					20																	34091280		2203	4300	6503	SO:0001587	stop_gained	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091280C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5083C>T	20.37:g.34091280C>T	ENSP00000380661:p.Arg1695*					CEP250_ENST00000342580.4_Nonsense_Mutation_p.R1639*	p.R1695*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5803	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1695			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	c.5083C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568044	0.65651	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	.	.	.	4.51	3.5	0.40072	.	0.146689	0.32459	N	0.006070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8374	0.40977	0.3992:0.6008:0.0:0.0	.	.	.	.	X	1695;1639;183	.	ENSP00000341541:R1639X	R	+	1	2	CEP250	33554694	0.616000	0.27035	0.992000	0.48379	0.985000	0.73830	1.458000	0.35223	2.352000	0.79861	0.455000	0.32223	CGA		0.592	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		52	99	0	0	0	1	0	52	99				
MUC16	94025	broad.mit.edu	37	19	9085753	9085753	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9085753G>T	ENST00000397910.4	-	1	6265	c.6062C>A	c.(6061-6063)tCt>tAt	p.S2021Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2021	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTCCAGAAGAGACTGAATT	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6061-6063)tCt>tAt		mucin 16, cell surface associated							119.0	114.0	116.0					19																	9085753		2006	4176	6182	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085753G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6062C>A	19.37:g.9085753G>T	ENSP00000381008:p.Ser2021Tyr						p.S2021Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6265	-			2021			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6062C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.252	-0.618220	0.03663	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.235	0.235	0.15431	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.58970	0.984	D	0.63877	0.919	T	0.45293	-0.9271	7	0.87932	D	0	.	.	.	.	.	2021	B5ME49	.	Y	2021	ENSP00000381008:S2021Y	ENSP00000381008:S2021Y	S	-	2	0	MUC16	8946753	0.003000	0.15002	0.159000	0.22649	0.161000	0.22273	-0.197000	0.09518	0.308000	0.22923	0.313000	0.20887	TCT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	64	1	0	8.73648e-17	1	1.16604e-16	33	64				
SLCO1A2	6579	broad.mit.edu	37	12	21422631	21422631	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21422631G>T	ENST00000307378.6	-	16	2584	c.1864C>A	c.(1864-1866)Ctt>Att	p.L622I	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L622I|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L490I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	622					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 membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTCCTCAAAAGAATTAAGATG	0.358																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1864-1866)Ctt>Att		solute carrier organic anion transporter family, member 1A2							97.0	96.0	96.0					12																	21422631		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21422631G>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1864C>A	12.37:g.21422631G>T	ENSP00000305974:p.Leu622Ile					SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L622I	p.L622I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			16	2584	-			622					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.1864C>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	0.278	-0.988119	0.02162	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524	T;T;T;T	0.46451	1.08;1.08;0.87;0.87	4.76	2.58	0.30949	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.193090	0.43416	N	0.000567	T	0.17492	0.0420	N	0.03209	-0.39	0.32912	D	0.514691	B	0.06786	0.001	B	0.08055	0.003	T	0.18745	-1.0327	10	0.16420	T	0.52	.	9.4337	0.38626	0.0:0.0:0.5621:0.4379	.	622	P46721	SO1A2_HUMAN	I	622;622;490;490	ENSP00000305974:L622I;ENSP00000393973:L622I;ENSP00000394854:L490I;ENSP00000439401:L490I	ENSP00000305974:L622I	L	-	1	0	SLCO1A2	21313898	0.711000	0.27906	0.081000	0.20488	0.056000	0.15407	0.404000	0.20999	0.438000	0.26450	0.563000	0.77884	CTT		0.358	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		34	53	1	0	9.93527e-08	1	1.15593e-07	34	53				
TTN	7273	broad.mit.edu	37	2	179613073	179613073	+	Intron	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179613073C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R4685K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCATAGTTCTATTTGAAAG	0.328																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(14053-14055)aGa>aAa		titin							78.0	87.0	84.0					2																	179613073		2201	4296	6497	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613073C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4777G>A	2.37:g.179613073C>T						TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron	p.R4685K	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14276	-			800			Ig-like 27.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14054G>A		.	.	.	.	.	.	.	.	.	.	C	10.18	1.278752	0.23307	.	.	ENSG00000155657	ENST00000360870	T	0.57273	0.41	5.15	2.35	0.29111	.	.	.	.	.	T	0.29716	0.0742	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25916	-1.0118	9	0.02654	T	1	.	7.5471	0.27772	0.0:0.6655:0.0:0.3345	.	4685	Q8WZ42-6	.	K	4685	ENSP00000354117:R4685K	ENSP00000354117:R4685K	R	-	2	0	TTN	179321318	0.000000	0.05858	0.012000	0.15200	0.165000	0.22458	0.056000	0.14256	0.559000	0.29153	0.650000	0.86243	AGA		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	46	0	0	0	1	0	26	46				
SHANK1	50944	broad.mit.edu	37	19	51205732	51205732	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51205732T>G	ENST00000293441.1	-	11	1757	c.1739A>C	c.(1738-1740)aAg>aCg	p.K580T	SHANK1_ENST00000359082.3_Missense_Mutation_p.K580T|SHANK1_ENST00000391814.1_Missense_Mutation_p.K580T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	580	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTTGATCTTCTCGCCCTT	0.627																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1738-1740)aAg>aCg		SH3 and multiple ankyrin repeat domains 1							64.0	49.0	54.0					19																	51205732		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51205732T>G	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1739A>C	19.37:g.51205732T>G	ENSP00000293441:p.Lys580Thr					SHANK1_ENST00000359082.3_Missense_Mutation_p.K580T|SHANK1_ENST00000391814.1_Missense_Mutation_p.K580T	p.K580T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	11	1757	-		all_neural(266;0.057)	580			SH3.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1739A>C	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709811	0.48517	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.06933	3.24;3.24;3.24	4.21	4.21	0.49690	Src homology-3 domain (3);Variant SH3 (1);	0.161726	0.37348	U	0.002134	T	0.15696	0.0378	N	0.21194	0.64	0.37354	D	0.910938	D	0.63880	0.993	D	0.77004	0.989	T	0.12091	-1.0561	10	0.48119	T	0.1	-9.469	12.9493	0.58389	0.0:0.0:0.0:1.0	.	580	Q9Y566	SHAN1_HUMAN	T	580	ENSP00000293441:K580T;ENSP00000351984:K580T;ENSP00000375690:K580T	ENSP00000293441:K580T	K	-	2	0	SHANK1	55897544	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.663000	0.46774	1.853000	0.53794	0.454000	0.30748	AAG		0.627	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		4	25	0	0	0	1	0	4	25				
KIAA1804	84451	broad.mit.edu	37	1	233498022	233498022	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:233498022G>A	ENST00000366624.3	+	5	1796	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	MLK4_ENST00000366623.3_Missense_Mutation_p.R512Q	NM_032435.2	NP_115811.2																					GATGGACATCGAATCAGTTTA	0.363																																						ENST00000366624.3																			0											c.(1534-1536)cGa>cAa									86.0	85.0	86.0					1																	233498022		2203	4300	6503	SO:0001583	missense	0							g.chr1:233498022G>A																												ENST00000366624.3:c.1535G>A	1.37:g.233498022G>A	ENSP00000355583:p.Arg512Gln					MLK4_ENST00000366623.3_Missense_Mutation_p.R512Q	p.R512Q	NM_032435.2	NP_115811.2					5	1796	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1535G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431926	0.43122	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.11930	2.73;2.73	4.82	3.91	0.45181	.	0.000000	0.64402	D	0.000002	T	0.09158	0.0226	L	0.37850	1.14	0.80722	D	1	P;B	0.38922	0.651;0.407	B;B	0.32022	0.139;0.041	T	0.21415	-1.0246	10	0.34782	T	0.22	.	8.2283	0.31582	0.0792:0.0:0.766:0.1548	.	512;512	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	Q	512	ENSP00000355582:R512Q;ENSP00000355583:R512Q	ENSP00000355582:R512Q	R	+	2	0	RP5-862P8.2	231564645	1.000000	0.71417	0.323000	0.25347	0.747000	0.42532	6.396000	0.73234	1.249000	0.43950	0.655000	0.94253	CGA		0.363	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			7	60	0	0	0	1	0	7	60				
FAM105A	54491	broad.mit.edu	37	5	14607452	14607452	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:14607452T>C	ENST00000274217.3	+	6	632	c.512T>C	c.(511-513)cTg>cCg	p.L171P		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	171	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CCTGAAAAACTGCTGTTTTCA	0.378																																						ENST00000274217.3																			0				large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(511-513)cTg>cCg		family with sequence similarity 105, member A							135.0	134.0	134.0					5																	14607452		2203	4300	6503	SO:0001583	missense	54491							g.chr5:14607452T>C		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.512T>C	5.37:g.14607452T>C	ENSP00000274217:p.Leu171Pro						p.L171P	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN			6	632	+	Lung NSC(4;0.00592)		171					Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	c.512T>C	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152250	0.78001	.	.	ENSG00000145569	ENST00000274217	T	0.20200	2.09	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000009	T	0.49236	0.1545	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53542	-0.8424	10	0.87932	D	0	-16.021	15.8892	0.79279	0.0:0.0:0.0:1.0	.	171	Q9NUU6	F105A_HUMAN	P	171	ENSP00000274217:L171P	ENSP00000274217:L171P	L	+	2	0	FAM105A	14660452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.478000	0.66806	2.149000	0.67028	0.533000	0.62120	CTG		0.378	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		23	35	0	0	0	1	0	23	35				
ZNF536	9745	broad.mit.edu	37	19	31038888	31038888	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31038888G>A	ENST00000355537.3	+	4	2509	c.2362G>A	c.(2362-2364)Ggc>Agc	p.G788S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	788					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGACTATGCCGGCACGCAGTC	0.507																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2362-2364)Ggc>Agc		zinc finger protein 536							66.0	69.0	68.0					19																	31038888		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31038888G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2362G>A	19.37:g.31038888G>A	ENSP00000347730:p.Gly788Ser						p.G788S	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2509	+	Esophageal squamous(110;0.0834)		788					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2362G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477108	0.84640	.	.	ENSG00000198597	ENST00000355537	T	0.17370	2.28	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	N	0.02751	-0.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45920	-0.9228	10	0.17832	T	0.49	-33.1648	20.6721	0.99693	0.0:0.0:1.0:0.0	.	788;788	A7E228;O15090	.;ZN536_HUMAN	S	788	ENSP00000347730:G788S	ENSP00000347730:G788S	G	+	1	0	ZNF536	35730728	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.467000	0.97671	2.894000	0.99253	0.591000	0.81541	GGC		0.507	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		24	53	0	0	0	1	0	24	53				
MAN1C1	57134	broad.mit.edu	37	1	26085155	26085155	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:26085155C>A	ENST00000374332.4	+	6	1332	c.1002C>A	c.(1000-1002)ttC>ttA	p.F334L	MAN1C1_ENST00000263979.3_Missense_Mutation_p.F154L|MAN1C1_ENST00000374329.1_Missense_Mutation_p.F105L|MAN1C1_ENST00000473891.1_3'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	334					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACTTGGAATTCTTACACCTCA	0.587																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(1000-1002)ttC>ttA		mannosidase, alpha, class 1C, member 1							107.0	96.0	100.0					1																	26085155		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26085155C>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1002C>A	1.37:g.26085155C>A	ENSP00000363452:p.Phe334Leu					MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000374329.1_Missense_Mutation_p.F105L|MAN1C1_ENST00000263979.3_Missense_Mutation_p.F154L	p.F334L	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	6	1332	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	334					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.1002C>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089180	0.76756	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.79033	-1.23;-1.23;-1.23	4.71	4.71	0.59529	.	0.103033	0.64402	D	0.000002	D	0.87939	0.6304	M	0.87456	2.885	0.50313	D	0.99986	D	0.89917	1.0	D	0.91635	0.999	D	0.88854	0.3321	10	0.66056	D	0.02	.	10.0708	0.42332	0.0:0.9079:0.0:0.0921	.	334	Q9NR34	MA1C1_HUMAN	L	334;154;154;105	ENSP00000363452:F334L;ENSP00000263979:F154L;ENSP00000363449:F105L	ENSP00000263979:F154L	F	+	3	2	MAN1C1	25957742	0.884000	0.30299	1.000000	0.80357	0.998000	0.95712	1.111000	0.31159	2.447000	0.82792	0.655000	0.94253	TTC		0.587	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		25	58	1	0	5.45024e-15	1	7.15042e-15	25	58				
CCDC39	339829	broad.mit.edu	37	3	180334405	180334405	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180334405G>A	ENST00000442201.2	-	18	2604	c.2485C>T	c.(2485-2487)Cgt>Tgt	p.R829C	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	829					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)				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)			TTCATTTCACGAAGTTTGATG	0.313																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2485-2487)Cgt>Tgt		coiled-coil domain containing 39							73.0	66.0	68.0					3																	180334405		1833	4073	5906	SO:0001583	missense	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.chr3:180334405G>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.2485C>T	3.37:g.180334405G>A	ENSP00000405708:p.Arg829Cys					CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	p.R829C	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		18	2604	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		829					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.2485C>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486075	0.26686	.	.	ENSG00000145075	ENST00000489868;ENST00000442201	D	0.81739	-1.53	5.24	5.24	0.73138	.	.	.	.	.	D	0.90710	0.7085	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91518	0.5232	9	0.72032	D	0.01	.	19.0176	0.92901	0.0:0.0:1.0:0.0	.	829	Q9UFE4	CCD39_HUMAN	C	1;829	ENSP00000405708:R829C	ENSP00000405708:R829C	R	-	1	0	CCDC39	181817099	1.000000	0.71417	0.991000	0.47740	0.056000	0.15407	4.162000	0.58177	2.718000	0.92993	0.460000	0.39030	CGT		0.313	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		3	5	0	0	0	1	0	3	5				
ARHGAP5	394	broad.mit.edu	37	14	32560867	32560867	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32560867T>C	ENST00000345122.3	+	2	1307	c.992T>C	c.(991-993)aTa>aCa	p.I331T	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I331T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I331T|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I331T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	331					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAGGAACATATAAGAAAAAGG	0.313																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(991-993)aTa>aCa		Rho GTPase activating protein 5							65.0	70.0	68.0					14																	32560867		2199	4285	6484	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560867T>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.992T>C	14.37:g.32560867T>C	ENSP00000371897:p.Ile331Thr					ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I331T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I331T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I331T|ARHGAP5_ENST00000433497.1_Intron	p.I331T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1307	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		331					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.992T>C	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431101	0.43122	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.47716	1.5	0.80722	D	1	P;P	0.41546	0.754;0.64	B;B	0.42692	0.395;0.222	T	0.01238	-1.1409	10	0.42905	T	0.14	.	15.8548	0.78968	0.0:0.0:0.0:1.0	.	331;331	Q13017-2;Q13017	.;RHG05_HUMAN	T	331	ENSP00000452222:I331T;ENSP00000441692:I331T;ENSP00000371897:I331T;ENSP00000393307:I331T	ENSP00000371897:I331T	I	+	2	0	ARHGAP5	31630618	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	2.138000	0.66242	0.460000	0.39030	ATA		0.313	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		23	37	0	0	0	1	0	23	37				
ABCB11	8647	broad.mit.edu	37	2	169820792	169820792	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:169820792G>T	ENST00000263817.6	-	18	2226	c.2102C>A	c.(2101-2103)tCt>tAt	p.S701Y		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	701					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGAAAGCTGAGACTTGGAGCG	0.463																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2101-2103)tCt>tAt		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						61.0	74.0	70.0					2																	169820792		1943	4175	6118	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169820792G>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2102C>A	2.37:g.169820792G>T	ENSP00000263817:p.Ser701Tyr						p.S701Y	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			18	2226	-			701					Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2102C>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593234	0.86953	.	.	ENSG00000073734	ENST00000263817	D	0.87966	-2.32	5.68	5.68	0.88126	.	720.329000	0.00166	N	0.000000	D	0.93311	0.7868	M	0.67397	2.05	0.80722	D	1	D;P	0.53462	0.96;0.722	P;B	0.56514	0.8;0.426	T	0.81219	-0.1032	10	0.35671	T	0.21	.	19.3745	0.94503	0.0:0.0:1.0:0.0	.	143;701	B4DZQ8;O95342	.;ABCBB_HUMAN	Y	701	ENSP00000263817:S701Y	ENSP00000263817:S701Y	S	-	2	0	ABCB11	169529038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.690000	0.74567	2.678000	0.91216	0.557000	0.71058	TCT		0.463	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		3	4	1	0	0.014758	1	0.015099	3	4				
HCFC1	3054	broad.mit.edu	37	X	153220472	153220472	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153220472G>A	ENST00000310441.7	-	17	4344	c.3378C>T	c.(3376-3378)agC>agT	p.S1126S	HCFC1_ENST00000369984.4_Silent_p.S1126S|HCFC1_ENST00000354233.3_Silent_p.S1057S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1126					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCGCCGACGCTCGACATGG	0.687																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3376-3378)agC>agT		host cell factor C1 (VP16-accessory protein)							21.0	29.0	26.0					X																	153220472		2161	4232	6393	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153220472G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3378C>T	X.37:g.153220472G>A						HCFC1_ENST00000354233.3_Silent_p.S1057S|HCFC1_ENST00000369984.4_Silent_p.S1126S	p.S1126S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			17	4344	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1126					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.3378C>T	CCDS44020.1																																																																																				0.687	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		14	30	0	0	0	1	0	14	30				
WBSCR17	64409	broad.mit.edu	37	7	70881033	70881033	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70881033G>A	ENST00000333538.5	+	4	1382	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	250	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCCCACGTGGAATTCACCGC	0.567																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(748-750)Gaa>Aaa		Williams-Beuren syndrome chromosome region 17							67.0	57.0	60.0					7																	70881033		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70881033G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.748G>A	7.37:g.70881033G>A	ENSP00000329654:p.Glu250Lys					WBSCR17_ENST00000498380.2_3'UTR	p.E250K	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			4	1382	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	250			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.748G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240135	0.95240	.	.	ENSG00000185274	ENST00000333538	T	0.64260	-0.09	5.04	5.04	0.67666	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.81861	0.4912	M	0.87900	2.915	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.85629	0.1269	10	0.87932	D	0	.	17.3775	0.87396	0.0:0.0:1.0:0.0	.	250	Q6IS24	GLTL3_HUMAN	K	250	ENSP00000329654:E250K	ENSP00000329654:E250K	E	+	1	0	WBSCR17	70518969	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.378000	0.97191	2.351000	0.79841	0.462000	0.41574	GAA		0.567	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		18	45	0	0	0	1	0	18	45				
SYNE2	23224	broad.mit.edu	37	14	64430710	64430710	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64430710A>C	ENST00000344113.4	+	10	1194	c.982A>C	c.(982-984)Aag>Cag	p.K328Q	SYNE2_ENST00000358025.3_Missense_Mutation_p.K328Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.K328Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	328					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTACTTTAAAAAGTATAATGT	0.318																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(982-984)Aag>Cag		spectrin repeat containing, nuclear envelope 2							61.0	58.0	59.0					14																	64430710		1800	4063	5863	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64430710A>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.982A>C	14.37:g.64430710A>C	ENSP00000341781:p.Lys328Gln					SYNE2_ENST00000554584.1_Missense_Mutation_p.K328Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.K328Q	p.K328Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	10	1212	+			328					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.982A>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.564082	0.27915	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59906	0.58;0.58;0.23	5.04	5.04	0.67666	.	0.226724	0.29791	N	0.011193	T	0.57888	0.2084	L	0.58101	1.795	0.80722	D	1	P;P	0.48503	0.856;0.911	B;P	0.45232	0.282;0.474	T	0.63319	-0.6664	10	0.62326	D	0.03	.	12.5657	0.56308	1.0:0.0:0.0:0.0	.	328;328	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	328	ENSP00000350719:K328Q;ENSP00000341781:K328Q;ENSP00000452570:K328Q	ENSP00000261678:K328Q	K	+	1	0	SYNE2	63500463	1.000000	0.71417	0.643000	0.29450	0.026000	0.11368	6.368000	0.73104	1.909000	0.55274	0.454000	0.30748	AAG		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		12	14	0	0	0	1	0	12	14				
FAM98B	283742	broad.mit.edu	37	15	38766438	38766438	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:38766438G>A	ENST00000491535.1	+	6	676	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	FAM98B_ENST00000397609.2_Missense_Mutation_p.R223Q	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	223						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TGCCGCCGACGAATGTTAATG	0.378																																						ENST00000397609.2																			0				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(667-669)cGa>cAa		family with sequence similarity 98, member B							201.0	179.0	186.0					15																	38766438		2200	4297	6497	SO:0001583	missense	283742					tRNA-splicing ligase complex	protein binding	g.chr15:38766438G>A		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.668G>A	15.37:g.38766438G>A	ENSP00000453166:p.Arg223Gln					FAM98B_ENST00000491535.1_Missense_Mutation_p.R223Q	p.R223Q	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)	6	703	+		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)	223					A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	c.668G>A	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181735	0.57800	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.46063	0.88	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	N	0.25332	0.735	0.50313	D	0.999866	D;P	0.89917	1.0;0.771	D;B	0.97110	1.0;0.162	T	0.28808	-1.0032	10	0.12103	T	0.63	-18.3246	18.6747	0.91525	0.0:0.0:1.0:0.0	.	223;223	A8MUW5;Q52LJ0	.;FA98B_HUMAN	Q	223	ENSP00000380734:R223Q	ENSP00000303412:R223Q	R	+	2	0	FAM98B	36553730	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.656000	0.46716	2.701000	0.92244	0.557000	0.71058	CGA		0.378	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		33	75	0	0	0	1	0	33	75				
MAEL	84944	broad.mit.edu	37	1	166985488	166985488	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166985488T>C	ENST00000367872.4	+	9	1119	c.875T>C	c.(874-876)cTc>cCc	p.L292P	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L261P	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	292					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATGATATTCTCTTCTGTGCT	0.348																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(874-876)cTc>cCc		maelstrom spermatogenic transposon silencer							152.0	151.0	151.0					1																	166985488		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166985488T>C	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.875T>C	1.37:g.166985488T>C	ENSP00000356846:p.Leu292Pro					MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L261P	p.L292P	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			9	1119	+			292					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.875T>C	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284831	0.59867	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.47528	0.84;0.84;0.89	5.0	5.0	0.66597	.	0.249276	0.28572	N	0.014867	T	0.39911	0.1096	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.72982	0.972;0.979	T	0.39840	-0.9594	10	0.41790	T	0.15	.	11.0231	0.47730	0.0:0.0:0.0:1.0	.	261;292	E9JVC3;Q96JY0	.;MAEL_HUMAN	P	292;261;261;14	ENSP00000356846:L292P;ENSP00000356844:L261P;ENSP00000402143:L261P	ENSP00000356844:L261P	L	+	2	0	MAEL	165252112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.982000	0.56909	2.111000	0.64477	0.482000	0.46254	CTC		0.348	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		4	55	0	0	0	1	0	4	55				
TTC33	23548	broad.mit.edu	37	5	40730378	40730378	+	Missense_Mutation	SNP	C	C	T	rs144481517		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:40730378C>T	ENST00000337702.4	-	3	441	c.289G>A	c.(289-291)Gag>Aag	p.E97K	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	97										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GATTTCATCTCGTATAGGGTA	0.358													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16689	0.0		0.0	False		,,,				2504	0.0					ENST00000337702.4																			0				NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(289-291)Gag>Aag		tetratricopeptide repeat domain 33							152.0	142.0	145.0					5																	40730378		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40730378C>T	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.289G>A	5.37:g.40730378C>T	ENSP00000338533:p.Glu97Lys					TTC33_ENST00000503936.2_Intron	p.E97K	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN			3	441	-			97					B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.289G>A	CCDS3931.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.719160	0.96839	.	.	ENSG00000113638	ENST00000337702	T	0.59224	0.28	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75744	0.3891	M	0.84846	2.72	0.80722	D	1	D	0.64830	0.994	P	0.59171	0.853	T	0.74275	-0.3718	10	0.30854	T	0.27	-22.7733	18.3196	0.90232	0.0:1.0:0.0:0.0	.	97	Q6PID6	TTC33_HUMAN	K	97	ENSP00000338533:E97K	ENSP00000338533:E97K	E	-	1	0	TTC33	40766135	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.484000	0.73621	2.764000	0.94973	0.655000	0.94253	GAG		0.358	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		19	34	0	0	0	1	0	19	34				
PCDHA9	9752	broad.mit.edu	37	5	140229206	140229206	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140229206G>A	ENST00000532602.1	+	1	2159	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D376N|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTGTGATCGACCTAGACGC	0.512																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1126-1128)Gac>Aac									122.0	111.0	115.0					5																	140229206		2196	4273	6469	SO:0001583	missense	0							g.chr5:140229206G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1126G>A	5.37:g.140229206G>A	ENSP00000436042:p.Asp376Asn					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D376N|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.D376N	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1850	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1126G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899636	0.91962	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.73152	-0.72;-0.72	3.79	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.000000	0.33180	U	0.005193	D	0.90109	0.6910	H	0.98314	4.2	0.43719	D	0.996191	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94301	0.7537	10	0.87932	D	0	.	16.175	0.81844	0.0:0.0:1.0:0.0	.	376;376	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	376	ENSP00000436042:D376N;ENSP00000367362:D376N	ENSP00000367362:D376N	D	+	1	0	PCDHA9	140209390	1.000000	0.71417	0.056000	0.19401	0.033000	0.12548	9.316000	0.96319	2.082000	0.62665	0.313000	0.20887	GAC		0.512	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		41	108	0	0	0	1	0	41	108				
RYR2	6262	broad.mit.edu	37	1	237604646	237604646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237604646G>T	ENST00000366574.2	+	13	1350	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E343*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E329*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	345					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTGAGAAAAGAAGTAGATGG	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1033-1035)Gaa>Taa		ryanodine receptor 2 (cardiac)							143.0	138.0	139.0					1																	237604646		1852	4106	5958	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604646G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1033G>T	1.37:g.237604646G>T	ENSP00000355533:p.Glu345*					RYR2_ENST00000360064.6_Nonsense_Mutation_p.E343*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E329*	p.E345*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1350	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	345					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.1033G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	37	6.031137	0.97221	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.39	4.47	0.54385	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.7434	0.77920	0.0:0.0:0.8621:0.1379	.	.	.	.	X	345;343;329	.	ENSP00000353174:E343X	E	+	1	0	RYR2	235671269	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	9.800000	0.99124	1.382000	0.46385	-0.181000	0.13052	GAA		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	40	1	0	1.64113e-05	1	1.80518e-05	20	40				
ATP9B	374868	broad.mit.edu	37	18	76953202	76953202	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:76953202C>T	ENST00000426216.2	+	9	910	c.893C>T	c.(892-894)gCt>gTt	p.A298V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A298V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	298					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCTATCAGTGCTTATGTTTAT	0.318																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(892-894)gCt>gTt		ATPase, class II, type 9B							129.0	126.0	127.0					18																	76953202		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76953202C>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.893C>T	18.37:g.76953202C>T	ENSP00000398076:p.Ala298Val					ATP9B_ENST00000307671.7_Missense_Mutation_p.A298V	p.A298V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	9	910	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	298					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.893C>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376602	0.61735	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.67865	-0.26;-0.29	5.01	5.01	0.66863	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	M	0.76838	2.35	0.80722	D	1	B;B	0.30889	0.299;0.254	B;B	0.36186	0.219;0.139	T	0.74842	-0.3527	10	0.56958	D	0.05	.	18.6702	0.91508	0.0:1.0:0.0:0.0	.	298;298	O43861;O43861-2	ATP9B_HUMAN;.	V	298	ENSP00000398076:A298V;ENSP00000304500:A298V	ENSP00000304500:A298V	A	+	2	0	ATP9B	75054190	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	6.263000	0.72521	2.488000	0.83962	0.585000	0.79938	GCT		0.318	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		6	45	0	0	0	1	0	6	45				
ZNF277	11179	broad.mit.edu	37	7	111976201	111976201	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111976201C>T	ENST00000361822.3	+	8	973	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	282					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAAGATGATCGGGAGTTGCT	0.413																																						ENST00000361822.3																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(844-846)Cgg>Tgg		zinc finger protein 277							195.0	184.0	187.0					7																	111976201		2203	4300	6503	SO:0001583	missense	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111976201C>T	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.844C>T	7.37:g.111976201C>T	ENSP00000354501:p.Arg282Trp					AC004112.4_ENST00000431064.1_RNA	p.R282W	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN			8	973	+			282					Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	c.844C>T	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278623	0.80692	.	.	ENSG00000198839	ENST00000361822;ENST00000425229	T	0.33216	1.42	5.18	4.29	0.51040	.	0.124293	0.56097	D	0.000036	T	0.31263	0.0791	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.49421	0.61	T	0.11084	-1.0602	10	0.62326	D	0.03	-1.0566	15.6408	0.77001	0.0:0.862:0.138:0.0	.	282	Q9NRM2	ZN277_HUMAN	W	282;194	ENSP00000354501:R282W	ENSP00000354501:R282W	R	+	1	2	ZNF277	111763437	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	3.765000	0.55272	1.148000	0.42385	0.591000	0.81541	CGG		0.413	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		13	39	0	0	0	1	0	13	39				
EZH2	2146	broad.mit.edu	37	7	148543633	148543633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:148543633C>A	ENST00000460911.1	-	3	263	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	EZH2_ENST00000541220.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000478654.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000320356.2_Nonsense_Mutation_p.E59*|EZH2_ENST00000476773.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000483967.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000350995.2_Nonsense_Mutation_p.E59*			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	59	Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED. {ECO:0000250}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGTTTCCATTCTTGGTTTAAG	0.383			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(175-177)Gaa>Taa		enhancer of zeste homolog 2 (Drosophila)							150.0	126.0	134.0					7																	148543633		2203	4300	6503	SO:0001587	stop_gained	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148543633C>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.175G>T	7.37:g.148543633C>A	ENSP00000419711:p.Glu59*					EZH2_ENST00000350995.2_Nonsense_Mutation_p.E59*|EZH2_ENST00000478654.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000476773.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000460911.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000483967.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000541220.1_Nonsense_Mutation_p.E59*	p.E59*	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		3	296	-	Melanoma(164;0.15)		59			Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED (By similarity).		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Nonsense_Mutation	SNP	ENST00000460911.1	37	c.175G>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	C	38	6.961662	0.97964	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000320147:E59X	E	-	1	0	EZH2	148174566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.882000	0.98803	0.655000	0.94253	GAA		0.383	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		21	29	1	0	1.28384e-07	1	1.48174e-07	21	29				
IVNS1ABP	10625	broad.mit.edu	37	1	185278208	185278208	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185278208T>G	ENST00000367498.3	-	4	830	c.208A>C	c.(208-210)Att>Ctt	p.I70L	IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I70L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACGTGAGAAATTCCATGAGGA	0.378																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(208-210)Att>Ctt		influenza virus NS1A binding protein							54.0	56.0	55.0					1																	185278208		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185278208T>G	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.208A>C	1.37:g.185278208T>G	ENSP00000356468:p.Ile70Leu					IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I70L|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	p.I70L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			4	830	-			70			BTB.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.208A>C	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.024779	0.35701	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.66638	-0.22;-0.22	5.67	2.71	0.32032	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.228678	0.45361	D	0.000377	T	0.45256	0.1333	N	0.12443	0.215	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.23084	-1.0198	10	0.48119	T	0.1	.	9.1733	0.37096	0.0:0.6359:0.0:0.3641	.	70	Q9Y6Y0	NS1BP_HUMAN	L	70	ENSP00000356468:I70L;ENSP00000356467:I70L	ENSP00000356467:I70L	I	-	1	0	IVNS1ABP	183544831	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	0.711000	0.25764	0.292000	0.22492	-0.353000	0.07706	ATT		0.378	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		11	21	0	0	0	1	0	11	21				
KITLG	4254	broad.mit.edu	37	12	88910206	88910206	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88910206C>A	ENST00000228280.5	-	5	607	c.425G>T	c.(424-426)aGa>aTa	p.R142I	KITLG_ENST00000347404.5_Missense_Mutation_p.R142I|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	142					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ATTAAAAATTCTAAAGAATTC	0.343									Testicular Cancer, Familial Clustering of																													ENST00000347404.5																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						c.(424-426)aGa>aTa		KIT ligand							55.0	62.0	59.0					12																	88910206		2200	4297	6497	SO:0001583	missense	4254	Testicular Cancer, Familial Clustering of	Familial Cancer Database		cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	g.chr12:88910206C>A	M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.425G>T	12.37:g.88910206C>A	ENSP00000228280:p.Arg142Ile					KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000228280.5_Missense_Mutation_p.R142I|KITLG_ENST00000357116.4_Intron	p.R142I	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN			5	997	-			142					A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	c.425G>T	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924527	0.52653	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.64803	-0.12;-0.12	4.96	4.07	0.47477	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.431810	0.30093	N	0.010422	T	0.48095	0.1481	L	0.43152	1.355	0.44261	D	0.997119	P;P	0.43607	0.775;0.812	B;B	0.34652	0.18;0.187	T	0.49597	-0.8923	10	0.54805	T	0.06	0.1007	8.7597	0.34667	0.0:0.8215:0.0:0.1785	.	142;142	P21583-2;P21583	.;SCF_HUMAN	I	107;142;142	ENSP00000228280:R142I;ENSP00000054216:R142I	ENSP00000228280:R142I	R	-	2	0	KITLG	87434337	0.995000	0.38212	0.998000	0.56505	0.998000	0.95712	1.036000	0.30228	1.079000	0.41038	0.591000	0.81541	AGA		0.343	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994		14	37	1	0	1.36491e-13	1	1.75346e-13	14	37				
CABYR	26256	broad.mit.edu	37	18	21736538	21736538	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21736538A>C	ENST00000399481.2	+	2	931	c.779A>C	c.(778-780)aAa>aCa	p.K260T	CABYR_ENST00000415309.2_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399496.3_Intron|RP11-799B12.4_ENST00000583267.1_lincRNA			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	358					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					ATGTCTAAAAAATCTGTAGAG	0.408																																						ENST00000399481.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(778-780)aAa>aCa		calcium binding tyrosine-(Y)-phosphorylation regulated							63.0	69.0	67.0					18																	21736538		2203	4300	6503	SO:0001583	missense	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21736538A>C	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399481.2:c.779A>C	18.37:g.21736538A>C	ENSP00000382404:p.Lys260Thr					CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000327201.6_Intron	p.K260T			O75952	CABYR_HUMAN			2	931	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		358					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	ENST00000399481.2	37	c.779A>C		.	.	.	.	.	.	.	.	.	.	A	7.352	0.623023	0.14193	.	.	ENSG00000154040	ENST00000399481	T	0.25749	1.78	5.05	1.2	0.21068	.	0.645079	0.14988	N	0.286862	T	0.20941	0.0504	L	0.38175	1.15	0.09310	N	1	P;P	0.48016	0.904;0.845	P;B	0.47573	0.55;0.348	T	0.08827	-1.0703	9	.	.	.	0.0679	3.6962	0.08365	0.5692:0.0:0.0926:0.3382	.	340;358	O75952-2;O75952	.;CABYR_HUMAN	T	260	ENSP00000382404:K260T	.	K	+	2	0	CABYR	19990536	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.682000	0.25335	0.051000	0.15978	-0.259000	0.10710	AAA		0.408	CABYR-201	KNOWN	basic	protein_coding	protein_coding		NM_153770		25	62	0	0	0	1	0	25	62				
CCNI	10983	broad.mit.edu	37	4	77969638	77969638	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77969638A>G	ENST00000237654.4	-	7	1444	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	CCNI_ENST00000537948.1_Missense_Mutation_p.S276P	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	290					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TTGTCCTTGGAGAAGTCTGGG	0.532																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(868-870)Tcc>Ccc		cyclin I							147.0	144.0	145.0					4																	77969638		2203	4300	6503	SO:0001583	missense	10983				spermatogenesis			g.chr4:77969638A>G	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.868T>C	4.37:g.77969638A>G	ENSP00000237654:p.Ser290Pro					CCNI_ENST00000537948.1_Missense_Mutation_p.S276P	p.S290P	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			7	1444	-			290					B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	c.868T>C	CCDS3580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.07|13.07	2.128600|2.128600	0.37533|0.37533	.|.	.|.	ENSG00000118816|ENSG00000118816	ENST00000515468|ENST00000237654;ENST00000537948	.|T;T	.|0.55413	.|0.52;0.52	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.305973	.|0.41712	.|D	.|0.000830	T|T	0.42291|0.42291	0.1196|0.1196	L|L	0.31294|0.31294	0.92|0.92	0.49130|0.49130	D|D	0.999752|0.999752	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.09377	.|0.003;0.004	T|T	0.21690|0.21690	-1.0238|-1.0238	5|10	.|0.25106	.|T	.|0.35	-3.3487|-3.3487	15.9745|15.9745	0.80049|0.80049	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|276;290	.|B7Z6X4;Q14094	.|.;CCNI_HUMAN	P|P	89|290;276	.|ENSP00000237654:S290P;ENSP00000441001:S276P	.|ENSP00000237654:S290P	L|S	-|-	2|1	0|0	CCNI|CCNI	78188662|78188662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.247000|3.247000	0.51422|0.51422	2.168000|2.168000	0.68352|0.68352	0.533000|0.533000	0.62120|0.62120	CTC|TCC		0.532	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		41	60	0	0	0	1	0	41	60				
FBXL16	146330	broad.mit.edu	37	16	747067	747067	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:747067C>A	ENST00000397621.1	-	2	670	c.339G>T	c.(337-339)gaG>gaT	p.E113D	FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000324361.5_Missense_Mutation_p.E113D|FBXL16_ENST00000562585.1_5'Flank	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	113	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCACACACTTCTCGCAGGCCG	0.662																																						ENST00000397621.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10						c.(337-339)gaG>gaT		F-box and leucine-rich repeat protein 16							27.0	29.0	28.0					16																	747067		2199	4297	6496	SO:0001583	missense	146330							g.chr16:747067C>A	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.339G>T	16.37:g.747067C>A	ENSP00000380746:p.Glu113Asp					FBXL16_ENST00000324361.5_Missense_Mutation_p.E113D	p.E113D	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN			2	670	-		Hepatocellular(780;0.0218)	113			F-box.		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	c.339G>T	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.938889	0.34189	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.18338	2.22;2.22	4.01	4.01	0.46588	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	L	0.33137	0.985	0.53005	D	0.999969	D	0.89917	1.0	D	0.83275	0.996	T	0.02184	-1.1199	10	0.02654	T	1	.	15.1067	0.72326	0.0:1.0:0.0:0.0	.	113	Q8N461	FXL16_HUMAN	D	113	ENSP00000380746:E113D;ENSP00000318674:E113D	ENSP00000318674:E113D	E	-	3	2	FBXL16	687068	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.547000	0.53663	1.798000	0.52647	0.313000	0.20887	GAG		0.662	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		19	42	1	0	0.000175454	1	0.000188314	19	42				
SLC39A9	55334	broad.mit.edu	37	14	69866118	69866118	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69866118C>T	ENST00000336643.5	+	1	710	c.32C>T	c.(31-33)tCt>tTt	p.S11F	SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000031146.4_Missense_Mutation_p.S11F|SLC39A9_ENST00000557046.1_Missense_Mutation_p.S11F|ERH_ENST00000557016.1_5'Flank|ERH_ENST00000555373.1_5'Flank|ERH_ENST00000216520.6_5'Flank|SLC39A9_ENST00000556605.1_Missense_Mutation_p.S11F	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	11					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCCTGCTGTCTCTGGCTATG	0.438																																						ENST00000031146.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(31-33)tCt>tTt		solute carrier family 39, member 9							236.0	211.0	219.0					14																	69866118		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69866118C>T		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.32C>T	14.37:g.69866118C>T	ENSP00000336887:p.Ser11Phe					SLC39A9_ENST00000557046.1_Missense_Mutation_p.S11F|SLC39A9_ENST00000556605.1_Missense_Mutation_p.S11F|SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000336643.5_Missense_Mutation_p.S11F	p.S11F			Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	1	710	+			11					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.32C>T	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593641	0.86953	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.67865	1.27;-0.29;0.87	5.61	5.61	0.85477	.	0.105488	0.64402	D	0.000002	D	0.84727	0.5536	M	0.86651	2.83	0.80722	D	1	D;D;D	0.76494	0.987;0.999;0.999	D;D;D	0.72338	0.937;0.939;0.977	D	0.86888	0.2046	10	0.87932	D	0	-9.414	19.233	0.93847	0.0:1.0:0.0:0.0	.	11;11;11	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	F	11	ENSP00000452385:S11F;ENSP00000336887:S11F;ENSP00000451833:S11F	ENSP00000031146:S11F	S	+	2	0	SLC39A9	68935871	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	7.047000	0.76599	2.657000	0.90304	0.655000	0.94253	TCT		0.438	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		5	15	0	0	0	1	0	5	15				
CASC1	55259	broad.mit.edu	37	12	25297311	25297311	+	Silent	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25297311A>T	ENST00000320267.9	-	8	1053	c.972T>A	c.(970-972)atT>atA	p.I324I	CASC1_ENST00000395990.2_Silent_p.I284I|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000354189.5_Silent_p.I388I|CASC1_ENST00000537577.1_Silent_p.I212I|CASC1_ENST00000395987.3_Silent_p.I330I|CASC1_ENST00000545133.1_Silent_p.I265I	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	324										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTTTCACTTCAATATCACCTT	0.353																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1162-1164)atT>atA		cancer susceptibility candidate 1							187.0	189.0	188.0					12																	25297311		2203	4300	6503	SO:0001819	synonymous_variant	55259							g.chr12:25297311A>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.972T>A	12.37:g.25297311A>T						CASC1_ENST00000395990.2_Silent_p.I284I|CASC1_ENST00000320267.9_Silent_p.I324I|CASC1_ENST00000537577.1_Silent_p.I212I|CASC1_ENST00000395987.3_Silent_p.I330I|CASC1_ENST00000545133.1_Silent_p.I265I|CASC1_ENST00000557684.1_5'UTR	p.I388I	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		9	1199	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		324					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	c.1164T>A	CCDS41762.1																																																																																				0.353	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		44	86	0	0	0	1	0	44	86				
KIAA1211	57482	broad.mit.edu	37	4	57180406	57180406	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57180406A>G	ENST00000504228.1	+	6	843	c.738A>G	c.(736-738)agA>agG	p.R246R	KIAA1211_ENST00000541073.1_Silent_p.R239R|KIAA1211_ENST00000264229.6_Silent_p.R246R			Q6ZU35	K1211_HUMAN	KIAA1211	246	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGAGAAGAGACGCCTAGAGG	0.612																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(736-738)agA>agG		KIAA1211							20.0	26.0	24.0					4																	57180406		2040	4177	6217	SO:0001819	synonymous_variant	57482							g.chr4:57180406A>G	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.738A>G	4.37:g.57180406A>G						KIAA1211_ENST00000264229.6_Silent_p.R246R|KIAA1211_ENST00000541073.1_Silent_p.R239R	p.R246R			Q6ZU35	K1211_HUMAN			6	843	+	Glioma(25;0.08)|all_neural(26;0.101)		246			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.738A>G	CCDS43230.1																																																																																				0.612	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		8	14	0	0	0	1	0	8	14				
ITPR1	3708	broad.mit.edu	37	3	4854917	4854917	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:4854917A>C	ENST00000443694.2	+	54	7515	c.7515A>C	c.(7513-7515)gaA>gaC	p.E2505D	ITPR1_ENST00000544951.1_Splice_Site_p.E483D|ITPR1_ENST00000423119.2_Splice_Site_p.E2472D|AC018816.3_ENST00000489771.1_5'Flank|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000302640.8_Splice_Site_p.E2505D|ITPR1_ENST00000354582.6_Splice_Site_p.E2505D|ITPR1_ENST00000456211.2_Splice_Site_p.E2457D|ITPR1_ENST00000357086.4_Splice_Site_p.E2472D			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2520	Interaction with ERP44. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CACCCAGAGAAGGTAGGACCT	0.517																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.e56+1		inositol 1,4,5-trisphosphate receptor, type 1							101.0	101.0	101.0					3																	4854917		1930	4125	6055	SO:0001630	splice_region_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4854917A>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7516+1A>C	3.37:g.4854917A>C						ITPR1_ENST00000357086.4_Splice_Site_p.E2472_splice|ITPR1_ENST00000544951.1_Splice_Site_p.E483_splice|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000354582.6_Splice_Site_p.E2505_splice|ITPR1_ENST00000456211.2_Splice_Site_p.E2457_splice|ITPR1_ENST00000443694.2_Splice_Site_p.E2505_splice|ITPR1_ENST00000423119.2_Splice_Site_p.E2472_splice	p.E2505_splice	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	56	7865	+			2520			Interaction with ERP44 (By similarity).		E7EPX7|E9PDE9|Q14660|Q99897	Splice_Site	SNP	ENST00000443694.2	37	c.7516_splice	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	4.596	0.110840	0.08780	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97505	-2.8;-2.79;-2.79;-2.79;-2.79;-4.41;-2.8	5.08	5.08	0.68730	Ion transport (1);	0.501716	0.21482	N	0.073810	D	0.91399	0.7286	N	0.17474	0.49	0.80722	D	1	B;B;B	0.15473	0.013;0.0;0.0	B;B;B	0.26094	0.066;0.003;0.003	D	0.85354	0.1103	10	0.13853	T	0.58	.	6.1193	0.20144	0.6729:0.167:0.0:0.1601	.	483;2520;2472	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	D	2520;2505;2505;2472;966;2472;2457;483;2505	ENSP00000306253:E2505D;ENSP00000346595:E2505D;ENSP00000405934:E2472D;ENSP00000349597:E2472D;ENSP00000397885:E2457D;ENSP00000440564:E483D;ENSP00000401671:E2505D	ENSP00000306253:E2505D	E	+	3	2	ITPR1	4829917	1.000000	0.71417	0.994000	0.49952	0.111000	0.19643	1.372000	0.34261	1.913000	0.55393	0.455000	0.32223	GAA		0.517	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	Missense_Mutation	8	79	0	0	0	1	0	8	79				
EVC2	132884	broad.mit.edu	37	4	5564756	5564756	+	Missense_Mutation	SNP	A	A	T	rs200968626		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5564756A>T	ENST00000344408.5	-	22	3799	c.3746T>A	c.(3745-3747)aTt>aAt	p.I1249N	EVC2_ENST00000310917.2_Missense_Mutation_p.I1169N|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1249					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTTCGCCAATGGGCTCCAG	0.448																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3505-3507)aTt>aAt		Ellis van Creveld syndrome 2							128.0	136.0	133.0					4																	5564756		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564756A>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3746T>A	4.37:g.5564756A>T	ENSP00000342144:p.Ile1249Asn					EVC2_ENST00000344408.5_Missense_Mutation_p.I1249N|EVC2_ENST00000344938.1_Intron	p.I1169N	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			22	4237	-			1249					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3506T>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	A	9.736	1.163579	0.21538	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74632	-0.85;-0.86	5.17	1.07	0.20283	.	0.632498	0.15662	N	0.250867	T	0.47135	0.1429	N	0.19112	0.55	0.09310	N	1	P	0.34462	0.454	B	0.27380	0.079	T	0.24190	-1.0167	10	0.15499	T	0.54	-0.0661	2.1295	0.03747	0.5914:0.163:0.0889:0.1567	.	1249	Q86UK5	LBN_HUMAN	N	1169;1249	ENSP00000311683:I1169N;ENSP00000342144:I1249N	ENSP00000311683:I1169N	I	-	2	0	EVC2	5615657	0.001000	0.12720	0.003000	0.11579	0.974000	0.67602	1.411000	0.34702	0.292000	0.22492	0.460000	0.39030	ATT		0.448	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		39	96	0	0	0	1	0	39	96				
TEC	7006	broad.mit.edu	37	4	48139468	48139468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:48139468C>A	ENST00000381501.3	-	18	2018	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	621	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TCAACTAGTTCATCTATTGTG	0.433																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1861-1863)Gaa>Taa		tec protein tyrosine kinase							129.0	121.0	123.0					4																	48139468		2203	4300	6503	SO:0001587	stop_gained	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48139468C>A	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1861G>T	4.37:g.48139468C>A	ENSP00000370912:p.Glu621*						p.E621*	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			18	2018	-			621			Protein kinase.		B7ZKZ6|Q3MIS5	Nonsense_Mutation	SNP	ENST00000381501.3	37	c.1861G>T	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808419	0.70797	.	.	ENSG00000135605	ENST00000381501	.	.	.	5.25	4.35	0.52113	.	0.177383	0.36665	N	0.002474	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	9.3762	0.38283	0.1606:0.6838:0.1556:0.0	.	.	.	.	X	621	.	ENSP00000370912:E621X	E	-	1	0	TEC	47834225	1.000000	0.71417	0.999000	0.59377	0.087000	0.18053	2.016000	0.40971	2.441000	0.82636	0.591000	0.81541	GAA		0.433	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			18	25	1	0	9.16793e-09	1	1.08598e-08	18	25				
CHD5	26038	broad.mit.edu	37	1	6228304	6228304	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6228304T>C	ENST00000262450.3	-	2	212	c.113A>G	c.(112-114)gAc>gGc	p.D38G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGGGAAAAAGTCATCGAAGGC	0.493																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(112-114)gAc>gGc		chromodomain helicase DNA binding protein 5							161.0	164.0	163.0					1																	6228304		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6228304T>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.113A>G	1.37:g.6228304T>C	ENSP00000262450:p.Asp38Gly					CHD5_ENST00000378021.1_5'UTR	p.D38G	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	2	212	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	38					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.113A>G	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952673	0.53293	.	.	ENSG00000116254	ENST00000262450	D	0.91740	-2.9	5.09	3.96	0.45880	.	0.246007	0.24638	U	0.036837	D	0.88036	0.6329	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.82615	-0.0370	10	0.51188	T	0.08	-26.6856	8.3673	0.32393	0.0:0.0916:0.0:0.9084	.	38	Q8TDI0	CHD5_HUMAN	G	38	ENSP00000262450:D38G	ENSP00000262450:D38G	D	-	2	0	CHD5	6150891	0.993000	0.37304	0.799000	0.32177	0.639000	0.38242	2.028000	0.41088	0.779000	0.33543	0.260000	0.18958	GAC		0.493	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		55	120	0	0	0	1	0	55	120				
ANKRD35	148741	broad.mit.edu	37	1	145562646	145562646	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145562646A>G	ENST00000355594.4	+	10	2421	c.2334A>G	c.(2332-2334)caA>caG	p.Q778Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	778										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCCCCCCAAGTGGCCGCTC	0.627																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(2332-2334)caA>caG		ankyrin repeat domain 35							10.0	12.0	11.0					1																	145562646		2163	4253	6416	SO:0001819	synonymous_variant	148741							g.chr1:145562646A>G	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2334A>G	1.37:g.145562646A>G							p.Q778Q	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	2421	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		778					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.2334A>G	CCDS919.1																																																																																				0.627	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		7	5	0	0	0	1	0	7	5				
RHNO1	83695	broad.mit.edu	37	12	2997159	2997159	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:2997159G>A	ENST00000489288.2	+	3	403	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	TULP3_ENST00000448120.2_5'Flank|RHNO1_ENST00000461997.2_Missense_Mutation_p.R70Q|RHNO1_ENST00000464682.2_3'UTR|TULP3_ENST00000397132.2_5'Flank	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1	Q9BSD3	RHNO1_HUMAN	RAD9-HUS1-RAD1 interacting nuclear orphan 1	84					cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|positive regulation of G0 to G1 transition (GO:0070318)|recombinational repair (GO:0000725)	chromosome (GO:0005694)|nucleus (GO:0005634)											CACTCAAGTCGAAAACCTACC	0.453																																						ENST00000489288.2																			0											c.(250-252)cGa>cAa		RAD9-HUS1-RAD1 interacting nuclear orphan 1							91.0	81.0	84.0					12																	2997159		2203	4300	6503	SO:0001583	missense	83695							g.chr12:2997159G>A	AK021945	CCDS8518.1, CCDS58199.1	12p13.33	2012-08-23	2012-08-23	2012-08-23	ENSG00000171792	ENSG00000171792			28206	protein-coding gene	gene with protein product	"""Rad9, Rad1, Hus1 interacting nuclear orphan"""	614085	"""chromosome 12 open reading frame 32"""	C12orf32		20811708, 21659603	Standard	NM_001252499		Approved	HKMT1188, MGC13204, RHINO	uc031qfq.1	Q9BSD3	OTTHUMG00000158557	ENST00000489288.2:c.251G>A	12.37:g.2997159G>A	ENSP00000438590:p.Arg84Gln					RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Missense_Mutation_p.R70Q	p.R84Q	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1					3	403	+								B7Z989	Missense_Mutation	SNP	ENST00000489288.2	37	c.251G>A	CCDS8518.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.927024	0.52759	.	.	ENSG00000171792	ENST00000538636;ENST00000461997;ENST00000489288;ENST00000538700	.	.	.	5.42	3.6	0.41247	.	0.272836	0.28376	N	0.015576	T	0.44008	0.1273	.	.	.	0.54753	D	0.999983	D;D	0.56968	0.978;0.978	B;B	0.42692	0.395;0.395	T	0.27434	-1.0074	8	0.39692	T	0.17	-2.5607	9.1168	0.36762	0.1694:0.0:0.8306:0.0	.	70;84	B7Z989;Q9BSD3	.;RHINO_HUMAN	Q	84;70;84;84	.	ENSP00000438828:R70Q	R	+	2	0	C12orf32	2867420	1.000000	0.71417	0.023000	0.16930	0.175000	0.22909	2.258000	0.43249	0.662000	0.31006	0.591000	0.81541	CGA		0.453	RHNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351286.2	NM_031465		11	21	0	0	0	1	0	11	21				
NEXN	91624	broad.mit.edu	37	1	78401718	78401718	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78401718A>C	ENST00000334785.7	+	11	1646	c.1462A>C	c.(1462-1464)Aat>Cat	p.N488H	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.N474H|NEXN_ENST00000330010.8_Missense_Mutation_p.N424H	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGAAGCTGAAAATTTTCATGA	0.294																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1270-1272)Aat>Cat		nexilin (F actin binding protein)							65.0	66.0	66.0					1																	78401718		1797	4062	5859	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78401718A>C	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1462A>C	1.37:g.78401718A>C	ENSP00000333938:p.Asn488His					NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.N474H|NEXN_ENST00000334785.7_Missense_Mutation_p.N488H	p.N424H	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	10	1567	+			488			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.1270A>C	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.68|11.68	1.710966|1.710966	0.30322|0.30322	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000457030;ENST00000330010;ENST00000334785	.|T;T;T	.|0.59638	.|0.33;0.25;0.33	5.83|5.83	-1.12|-1.12	0.09808|0.09808	.|.	.|0.496053	.|0.18099	.|N	.|0.151755	T|T	0.21962|0.21962	0.0529|0.0529	N|N	0.11201|0.11201	0.11|0.11	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.001;0.001;0.002;0.001	T|T	0.04203|0.04203	-1.0969|-1.0969	5|10	.|0.36615	.|T	.|0.2	-1.7187|-1.7187	18.7982|18.7982	0.92005|0.92005	0.3593:0.6406:0.0:0.0|0.3593:0.6406:0.0:0.0	.|.	.|424;474;488;424	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	N|H	387|474;424;488	.|ENSP00000388048:N474H;ENSP00000327363:N424H;ENSP00000333938:N488H	.|ENSP00000327363:N424H	K|N	+|+	3|1	2|0	NEXN|NEXN	78174306|78174306	0.912000|0.912000	0.30974|0.30974	0.987000|0.987000	0.45799|0.45799	0.896000|0.896000	0.52359|0.52359	0.222000|0.222000	0.17699|0.17699	-0.153000|-0.153000	0.11137|0.11137	0.454000|0.454000	0.30748|0.30748	AAA|AAT		0.294	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		14	25	0	0	0	1	0	14	25				
ZNF99	7652	broad.mit.edu	37	19	22939559	22939559	+	IGR	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22939559T>G	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.N871T|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTGAGGAATTGTTAAAAGC	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2611-2613)aAt>aCt		zinc finger protein 99							37.0	50.0	46.0					19																	22939559		1934	4221	6155	SO:0001628	intergenic_variant	7652							g.chr19:22939559T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939559T>G							p.N871T							7	2611	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2612A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.655	-0.808169	0.02819	.	.	ENSG00000213973	ENST00000397104	T	0.16073	2.37	1.32	-2.33	0.06724	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.38373	-0.9664	8	0.22706	T	0.39	.	3.8954	0.09136	0.0:0.2983:0.3356:0.3661	.	871	A8MXY4	ZNF99_HUMAN	T	871	ENSP00000380293:N871T	ENSP00000380293:N871T	N	-	2	0	ZNF99	22731399	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.177000	0.00570	-0.752000	0.04728	0.138000	0.15974	AAT		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		16	35	0	0	0	1	0	16	35				
CAPRIN2	65981	broad.mit.edu	37	12	30881756	30881756	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:30881756T>G	ENST00000395805.2	-	8	2155	c.1608A>C	c.(1606-1608)gaA>gaC	p.E536D	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E536D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E203D|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.E536D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E536D	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTGAATCCTGTTCTTCACACA	0.433																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1606-1608)gaA>gaC		caprin family member 2							232.0	221.0	225.0					12																	30881756		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30881756T>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1608A>C	12.37:g.30881756T>G	ENSP00000379150:p.Glu536Asp					CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E536D|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E203D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E536D|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.E536D	p.E536D	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			8	2358	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		536						Missense_Mutation	SNP	ENST00000395805.2	37	c.1608A>C	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.352026	0.24512	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.74737	2.44;-0.61;2.86;-0.58;-0.87;2.86;2.47	4.55	-9.09	0.00717	.	0.948029	0.08866	N	0.882343	T	0.43809	0.1264	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B;B;B;B	0.10296	0.001;0.001;0.002;0.003;0.001;0.0;0.0	B;B;B;B;B;B;B	0.09377	0.004;0.001;0.002;0.004;0.002;0.003;0.001	T	0.26018	-1.0115	10	0.19590	T	0.45	-1.1513	2.0522	0.03573	0.1595:0.2645:0.3396:0.2365	.	536;262;536;536;536;536;536	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	D	282;536;536;536;203;536;262;455	ENSP00000415407:E282D;ENSP00000298892:E536D;ENSP00000379150:E536D;ENSP00000251071:E536D;ENSP00000309785:E203D;ENSP00000391479:E536D;ENSP00000438010:E455D	ENSP00000251071:E536D	E	-	3	2	CAPRIN2	30773023	0.000000	0.05858	0.142000	0.22268	0.976000	0.68499	-2.769000	0.00780	-1.935000	0.01049	-0.379000	0.06801	GAA		0.433	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		32	86	0	0	0	1	0	32	86				
ZNF620	253639	broad.mit.edu	37	3	40558152	40558152	+	Missense_Mutation	SNP	G	G	A	rs149375136		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40558152G>A	ENST00000314529.6	+	5	1216	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	ZNF620_ENST00000418905.1_Missense_Mutation_p.R242Q	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	356					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGCATCAGCGAATTCACACT	0.473																																						ENST00000314529.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(1066-1068)cGa>cAa		zinc finger protein 620		G	GLN/ARG	0,4406		0,0,2203	78.0	77.0	78.0		1067	1.8	0.2	3	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF620	NM_175888.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	356/423	40558152	2,13004	2203	4300	6503	SO:0001583	missense	253639				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40558152G>A	AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.1067G>A	3.37:g.40558152G>A	ENSP00000322265:p.Arg356Gln					ZNF620_ENST00000418905.1_Missense_Mutation_p.R242Q	p.R356Q	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	5	1216	+			356					Q8N223	Missense_Mutation	SNP	ENST00000314529.6	37	c.1067G>A	CCDS33740.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695364	0.30052	0.0	2.33E-4	ENSG00000177842	ENST00000314529;ENST00000418905	T;T	0.24723	1.84;1.84	2.82	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38852	0.1056	L	0.48174	1.505	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.08534	-1.0717	8	.	.	.	.	9.381	0.38313	0.0:0.2212:0.7788:0.0	.	356	Q6ZNG0	ZN620_HUMAN	Q	356;242	ENSP00000322265:R356Q;ENSP00000391472:R242Q	.	R	+	2	0	ZNF620	40533156	0.026000	0.19158	0.249000	0.24280	0.021000	0.10359	1.675000	0.37555	1.591000	0.50007	0.585000	0.79938	CGA		0.473	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	XM_171060		28	49	0	0	0	1	0	28	49				
ACTL6A	86	broad.mit.edu	37	3	179294470	179294470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179294470G>T	ENST00000429709.2	+	7	847	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.E170*|ACTL6A_ENST00000467615.1_3'UTR|ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.E170*	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	212					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ACTCTTCCAAGAAATGAATAT	0.378																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(634-636)Gaa>Taa		actin-like 6A							140.0	147.0	145.0					3																	179294470		2203	4300	6503	SO:0001587	stop_gained	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179294470G>T	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.634G>T	3.37:g.179294470G>T	ENSP00000397552:p.Glu212*					ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.E170*|ACTL6A_ENST00000467615.1_3'UTR|ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.E170*	p.E212*	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		7	847	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		212					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Nonsense_Mutation	SNP	ENST00000429709.2	37	c.634G>T	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	39	7.880643	0.98539	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	.	.	.	5.39	5.39	0.77823	.	0.045645	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.1549	0.93506	0.0:0.0:1.0:0.0	.	.	.	.	X	212;170;170	.	ENSP00000376430:E170X	E	+	1	0	ACTL6A	180777164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.517000	0.84864	0.650000	0.86243	GAA		0.378	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		22	56	1	0	7.45023e-12	1	9.31775e-12	22	56				
PIAS1	8554	broad.mit.edu	37	15	68378827	68378827	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68378827A>G	ENST00000249636.6	+	2	356	c.208A>G	c.(208-210)Atg>Gtg	p.M70V	PIAS1_ENST00000545237.1_Missense_Mutation_p.M72V	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	70					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACAGAAAATCATGACGCCTGC	0.478																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(214-216)Atg>Gtg		protein inhibitor of activated STAT, 1							119.0	120.0	119.0					15																	68378827		1941	4136	6077	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68378827A>G	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.208A>G	15.37:g.68378827A>G	ENSP00000249636:p.Met70Val					PIAS1_ENST00000249636.6_Missense_Mutation_p.M70V	p.M72V			O75925	PIAS1_HUMAN			3	955	+			70					B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.214A>G	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	A	6.651	0.488585	0.12641	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.27557	1.66;1.66	5.52	5.52	0.82312	.	0.083032	0.85682	D	0.000000	T	0.08313	0.0207	N	0.00347	-1.61	0.42961	D	0.994406	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25293	-1.0136	10	0.18710	T	0.47	-13.9891	10.5363	0.45007	0.8556:0.0:0.0:0.1444	.	70;70	C5J4B4;O75925	.;PIAS1_HUMAN	V	70;72	ENSP00000249636:M70V;ENSP00000438574:M72V	ENSP00000249636:M70V	M	+	1	0	PIAS1	66165881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.828000	0.62730	2.097000	0.63578	0.528000	0.53228	ATG		0.478	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			36	71	0	0	0	1	0	36	71				
DRG1	4733	broad.mit.edu	37	22	31829935	31829935	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:31829935T>C	ENST00000331457.4	+	9	1243	c.1082T>C	c.(1081-1083)gTc>gCc	p.V361A		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	361					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GATGAGGATGTCATTCAAATT	0.478																																						ENST00000331457.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						c.(1081-1083)gTc>gCc		developmentally regulated GTP binding protein 1							151.0	121.0	131.0					22																	31829935		2203	4300	6503	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31829935T>C	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.1082T>C	22.37:g.31829935T>C	ENSP00000329715:p.Val361Ala						p.V361A	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN			9	1243	+			361					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.1082T>C	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794372	0.90453	.	.	ENSG00000185721	ENST00000331457	T	0.28454	1.61	5.29	5.29	0.74685	TGS-like (1);TGS (1);	0.059961	0.64402	D	0.000003	T	0.70281	0.3206	H	0.98883	4.36	0.80722	D	1	D	0.67145	0.996	D	0.67900	0.954	T	0.82647	-0.0354	10	0.87932	D	0	-7.9283	13.2637	0.60120	0.0:0.0:0.0:1.0	.	361	Q9Y295	DRG1_HUMAN	A	361	ENSP00000329715:V361A	ENSP00000329715:V361A	V	+	2	0	DRG1	30159935	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.275000	0.65575	2.135000	0.66039	0.533000	0.62120	GTC		0.478	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		14	29	0	0	0	1	0	14	29				
IL21	59067	broad.mit.edu	37	4	123534041	123534041	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123534041C>A	ENST00000264497.3	-	4	460	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	128					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)	p.E135*(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTAGGAATTCTTTGGGTGGT	0.299																																						ENST00000264497.3																			1	Substitution - Nonsense(1)	p.E135*(1)	large_intestine(1)	NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(403-405)Gaa>Taa		interleukin 21							80.0	87.0	85.0					4																	123534041		2203	4300	6503	SO:0001587	stop_gained	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123534041C>A	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.403G>T	4.37:g.123534041C>A	ENSP00000264497:p.Glu135*						p.E135*	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			4	460	-			128					A5J0L4	Nonsense_Mutation	SNP	ENST00000264497.3	37	c.403G>T	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423765	0.62733	.	.	ENSG00000138684	ENST00000264497	.	.	.	4.81	3.91	0.45181	.	0.000000	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.7765	11.5764	0.50864	0.0:0.8194:0.1806:0.0	.	.	.	.	X	135	.	ENSP00000264497:E135X	E	-	1	0	IL21	123753491	0.895000	0.30542	1.000000	0.80357	0.995000	0.86356	1.002000	0.29796	2.214000	0.71695	0.467000	0.42956	GAA		0.299	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		15	24	1	0	7.93312e-07	1	8.98086e-07	15	24				
DLG5	9231	broad.mit.edu	37	10	79595622	79595622	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:79595622C>T	ENST00000372391.2	-	8	1501	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	DLG5_ENST00000372388.2_Missense_Mutation_p.R499Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	499					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCACTGCTTTCGAAGGATTTC	0.597																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1495-1497)cGa>cAa		discs, large homolog 5 (Drosophila)							116.0	99.0	105.0					10																	79595622		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79595622C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1496G>A	10.37:g.79595622C>T	ENSP00000361467:p.Arg499Gln					DLG5_ENST00000372388.2_Missense_Mutation_p.R499Q	p.R499Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		8	1501	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		499					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1496G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	35	5.587910	0.96590	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.06142	3.34;3.4	5.8	5.8	0.92144	.	0.000000	0.31648	N	0.007282	T	0.26521	0.0648	M	0.65975	2.015	0.43588	D	0.99593	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.996;0.99	T	0.00066	-1.2144	10	0.62326	D	0.03	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	389;499;499	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	Q	499	ENSP00000361467:R499Q;ENSP00000361464:R499Q	ENSP00000361464:R499Q	R	-	2	0	DLG5	79265628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.735000	0.93741	0.655000	0.94253	CGA		0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			20	52	0	0	0	1	0	20	52				
KANSL1L	151050	broad.mit.edu	37	2	210940291	210940291	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210940291A>C	ENST00000281772.9	-	6	2003	c.1740T>G	c.(1738-1740)ttT>ttG	p.F580L	KANSL1L_ENST00000457374.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000452086.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000418791.1_Missense_Mutation_p.F580L	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	580						histone acetyltransferase complex (GO:0000123)											GAGTCCAATAAAAAGTAGGGC	0.403																																						ENST00000281772.9																			0											c.(1738-1740)ttT>ttG		KAT8 regulatory NSL complex subunit 1-like							116.0	107.0	110.0					2																	210940291		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210940291A>C	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1740T>G	2.37:g.210940291A>C	ENSP00000281772:p.Phe580Leu					KANSL1L_ENST00000452086.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000457374.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000418791.1_Missense_Mutation_p.F580L	p.F580L	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			6	2003	-			580					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.1740T>G	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.011|5.011	0.187692|0.187692	0.09547|0.09547	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000428655	.|.	.|.	.|.	5.75|5.75	3.4|3.4	0.38934|0.38934	.|.	0.155556|.	0.42294|.	D|.	0.000737|.	T|T	0.41096|0.41096	0.1144|0.1144	L|L	0.36672|0.36672	1.1|1.1	0.33531|0.33531	D|D	0.593669|0.593669	B;B;B;B|.	0.11235|.	0.004;0.004;0.001;0.001|.	B;B;B;B|.	0.13407|.	0.005;0.009;0.006;0.006|.	T|T	0.49224|0.49224	-0.8962|-0.8962	9|5	0.11794|.	T|.	0.64|.	.|.	8.1372|8.1372	0.31061|0.31061	0.8437:0.0:0.1563:0.0|0.8437:0.0:0.1563:0.0	.|.	580;580;580;580|.	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.	.;.;.;CB067_HUMAN|.	L|V	580|275	.|.	ENSP00000281772:F580L|.	F|L	-|-	3|1	2|2	C2orf67|C2orf67	210648536|210648536	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.156000|0.156000	0.22039|0.22039	2.187000|2.187000	0.42602|0.42602	0.458000|0.458000	0.26988|0.26988	-0.379000|-0.379000	0.06801|0.06801	TTT|TTA		0.403	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		8	14	0	0	0	1	0	8	14				
CLCA4	22802	broad.mit.edu	37	1	87031554	87031554	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:87031554T>A	ENST00000370563.3	+	6	847	c.805T>A	c.(805-807)Ttt>Att	p.F269I	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	269					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAAGTGCAATTTTAGAAGTAC	0.343																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(805-807)Ttt>Att		chloride channel accessory 4							105.0	97.0	100.0					1																	87031554		1832	4094	5926	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87031554T>A	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.805T>A	1.37:g.87031554T>A	ENSP00000359594:p.Phe269Ile					CLCA4_ENST00000263723.5_5'UTR	p.F269I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	6	847	+		Lung NSC(277;0.238)	269					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.805T>A	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.499663	0.26861	.	.	ENSG00000016602	ENST00000370563	T	0.02837	4.14	6.11	-0.0171	0.13969	.	1.759420	0.02435	N	0.083996	T	0.00936	0.0031	L	0.34521	1.04	0.09310	N	0.999996	B	0.23058	0.079	B	0.25987	0.065	T	0.48328	-0.9045	10	0.24483	T	0.36	19.3228	6.766	0.23566	0.0:0.2456:0.1152:0.6391	.	269	Q14CN2	CLCA4_HUMAN	I	269	ENSP00000359594:F269I	ENSP00000359594:F269I	F	+	1	0	CLCA4	86804142	0.000000	0.05858	0.000000	0.03702	0.779000	0.44077	0.422000	0.21296	0.176000	0.19873	0.533000	0.62120	TTT		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		25	34	0	0	0	1	0	25	34				
C3orf35	339883	broad.mit.edu	37	3	37458846	37458846	+	Missense_Mutation	SNP	G	G	A	rs193097162	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37458846G>A	ENST00000328376.5	+	5	1068	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	C3orf35_ENST00000426078.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000425564.2_Missense_Mutation_p.R30Q|C3orf35_ENST00000452017.2_Missense_Mutation_p.R30Q|C3orf35_ENST00000425932.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000481400.1_Intron	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	30						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTGTGCGCCCGAACTTTTCAC	0.433													G|||	4	0.000798722	0.0015	0.0	5008	,	,		18668	0.001		0.0	False		,,,				2504	0.001					ENST00000328376.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(88-90)cGa>cAa		chromosome 3 open reading frame 35		G	GLN/ARG,GLN/ARG	1,3671		0,1,1835	111.0	105.0	107.0		89,89	-6.6	0.0	3		107	3,8163		0,3,4080	yes	missense,missense	C3orf35	NM_178339.2,NM_178342.2	43,43	0,4,5915	AA,AG,GG		0.0367,0.0272,0.0338	probably-damaging,probably-damaging	30/171,30/120	37458846	4,11834	1836	4083	5919	SO:0001583	missense	339883					integral to membrane		g.chr3:37458846G>A	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.89G>A	3.37:g.37458846G>A	ENSP00000331625:p.Arg30Gln					C3orf35_ENST00000426078.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425932.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000425564.2_Missense_Mutation_p.R30Q|C3orf35_ENST00000452017.2_Missense_Mutation_p.R30Q	p.R30Q	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN			5	1068	+			30					B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	37	c.89G>A	CCDS43065.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.692	0.691247	0.15039	2.72E-4	3.67E-4	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.55413	0.52	4.24	-6.63	0.01807	.	.	.	.	.	T	0.26629	0.0651	N	0.08118	0	0.09310	N	1	B;B	0.19706	0.038;0.017	B;B	0.10450	0.005;0.003	T	0.28650	-1.0037	9	0.87932	D	0	.	7.6808	0.28513	0.4534:0.3754:0.1712:0.0	.	30;30	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	Q	30	ENSP00000331625:R30Q	ENSP00000331625:R30Q	R	+	2	0	C3orf35	37433850	0.011000	0.17503	0.000000	0.03702	0.100000	0.18952	-0.493000	0.06459	-1.614000	0.01575	-0.251000	0.11542	CGA		0.433	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338		42	88	0	0	0	1	0	42	88				
FCRL3	115352	broad.mit.edu	37	1	157667524	157667524	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:157667524G>T	ENST00000368184.3	-	5	775	c.484C>A	c.(484-486)Cat>Aat	p.H162N	FCRL3_ENST00000368186.5_Missense_Mutation_p.H162N|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	162	Ig-like C2-type 2.					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)					GCAGTACAATGATATTTGCTA	0.338																																						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.(484-486)Cat>Aat		Fc receptor-like 3							179.0	178.0	178.0					1																	157667524		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667524G>T	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.484C>A	1.37:g.157667524G>T	ENSP00000357167:p.His162Asn					FCRL3_ENST00000368186.5_Missense_Mutation_p.H162N|FCRL3_ENST00000473231.1_5'UTR	p.H162N	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			5	775	-	all_hematologic(112;0.0378)		162			Ig-like C2-type 2.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.484C>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662631	0.47572	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12361	2.69;2.69	5.01	-5.5	0.02576	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	6.544990	0.00465	U	0.000108	T	0.07548	0.0190	M	0.73753	2.245	0.09310	N	1	B;B	0.33212	0.33;0.402	B;B	0.41412	0.356;0.162	T	0.26608	-1.0098	10	0.40728	T	0.16	.	4.4309	0.11527	0.5909:0.1147:0.1782:0.1162	.	162;162	Q96P31;Q96P31-6	FCRL3_HUMAN;.	N	162	ENSP00000357169:H162N;ENSP00000357167:H162N	ENSP00000292392:H162N	H	-	1	0	FCRL3	155934148	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.308000	0.02730	-1.503000	0.01812	-0.327000	0.08410	CAT		0.338	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		28	42	1	0	4.43304e-23	1	6.18842e-23	28	42				
FGD6	55785	broad.mit.edu	37	12	95531303	95531303	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95531303A>G	ENST00000343958.4	-	7	3212	c.2989T>C	c.(2989-2991)Ttt>Ctt	p.F997L	FGD6_ENST00000549499.1_Missense_Mutation_p.F997L|FGD6_ENST00000546711.1_Missense_Mutation_p.F997L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	997	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATACCTCAAATTCTCTAACA	0.328																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2989-2991)Ttt>Ctt		FYVE, RhoGEF and PH domain containing 6							115.0	109.0	111.0					12																	95531303		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95531303A>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2989T>C	12.37:g.95531303A>G	ENSP00000344446:p.Phe997Leu					FGD6_ENST00000549499.1_Missense_Mutation_p.F997L|FGD6_ENST00000546711.1_Missense_Mutation_p.F997L	p.F997L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			7	3212	-			997			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2989T>C	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383337	0.82792	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.27256	1.68;1.68;1.68	4.98	4.98	0.66077	Dbl homology (DH) domain (5);	0.000000	0.48286	D	0.000191	T	0.42449	0.1203	L	0.41710	1.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.30534	-0.9975	10	0.56958	D	0.05	-19.9555	14.9642	0.71179	1.0:0.0:0.0:0.0	.	997;997	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	L	997	ENSP00000344446:F997L;ENSP00000450342:F997L;ENSP00000449005:F997L	ENSP00000344446:F997L	F	-	1	0	FGD6	94055434	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.787000	0.91830	2.004000	0.58718	0.459000	0.35465	TTT		0.328	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		26	35	0	0	0	1	0	26	35				
PPP1R16B	26051	broad.mit.edu	37	20	37547186	37547186	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37547186G>A	ENST00000299824.1	+	11	1770	c.1581G>A	c.(1579-1581)ccG>ccA	p.P527P	PPP1R16B_ENST00000373331.2_Silent_p.P485P	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	527					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAACTTCACCGTACAGCAGCA	0.587																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1579-1581)ccG>ccA		protein phosphatase 1, regulatory subunit 16B							74.0	62.0	66.0					20																	37547186		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547186G>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1581G>A	20.37:g.37547186G>A						PPP1R16B_ENST00000373331.2_Silent_p.P485P	p.P527P	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			11	1770	+		Myeloproliferative disorder(115;0.00878)	527					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.1581G>A	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102326	0.20632	.	.	ENSG00000101445	ENST00000438192	.	.	.	5.35	-6.48	0.01896	.	.	.	.	.	T	0.36468	0.0968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41998	-0.9477	4	.	.	.	.	2.8795	0.05642	0.4658:0.2804:0.1224:0.1314	.	.	.	.	H	428	.	.	R	+	2	0	PPP1R16B	36980600	0.034000	0.19679	0.871000	0.34182	0.977000	0.68977	-0.864000	0.04254	-0.817000	0.04335	-0.743000	0.03520	CGT		0.587	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		18	43	0	0	0	1	0	18	43				
PNMA1	9240	broad.mit.edu	37	14	74179915	74179915	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74179915T>C	ENST00000316836.3	-	1	1213	c.428A>G	c.(427-429)tAt>tGt	p.Y143C		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	143					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		atccaaaatatagtttagcat	0.532																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(427-429)tAt>tGt		paraneoplastic Ma antigen 1							63.0	69.0	67.0					14																	74179915		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179915T>C	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.428A>G	14.37:g.74179915T>C	ENSP00000318914:p.Tyr143Cys						p.Y143C	NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1213	-			143					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.428A>G	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099469	0.56183	.	.	ENSG00000176903	ENST00000316836	T	0.09445	2.98	3.9	3.9	0.45041	.	0.341831	0.21557	N	0.072630	T	0.11110	0.0271	N	0.08118	0	0.38970	D	0.95872	P	0.52577	0.954	P	0.57244	0.816	T	0.19451	-1.0305	10	0.54805	T	0.06	-6.3045	9.4132	0.38505	0.0:0.0:0.0:1.0	.	143	Q8ND90	PNMA1_HUMAN	C	143	ENSP00000318914:Y143C	ENSP00000318914:Y143C	Y	-	2	0	PNMA1	73249668	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.059000	0.49947	2.002000	0.58637	0.533000	0.62120	TAT		0.532	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		54	72	0	0	0	1	0	54	72				
RAB30	27314	broad.mit.edu	37	11	82698747	82698747	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82698747G>A	ENST00000533486.1	-	5	527	c.243C>T	c.(241-243)agC>agT	p.S81S	RAB30_ENST00000525117.1_Silent_p.S53S|RAB30_ENST00000534141.1_Silent_p.S81S|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000532548.1_Silent_p.S81S|RAB30_ENST00000527633.1_Silent_p.S81S|RAB30_ENST00000260056.2_Silent_p.S81S	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	81					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGCATTGGCGCTTCGGTAGT	0.483																																						ENST00000533486.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(241-243)agC>agT		RAB30, member RAS oncogene family							197.0	181.0	186.0					11																	82698747		2203	4300	6503	SO:0001819	synonymous_variant	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82698747G>A	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.243C>T	11.37:g.82698747G>A						RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Silent_p.S81S|RAB30_ENST00000532548.1_Silent_p.S81S|RAB30_ENST00000525117.1_Silent_p.S53S|RAB30_ENST00000534141.1_Silent_p.S81S|RAB30_ENST00000260056.2_Silent_p.S81S	p.S81S	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN			5	527	-			81					Q6FGK1|Q6MZH2|Q96CI8	Silent	SNP	ENST00000533486.1	37	c.243C>T	CCDS8264.1																																																																																				0.483	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488		11	78	0	0	0	1	0	11	78				
GCC2	9648	broad.mit.edu	37	2	109086776	109086776	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109086776A>C	ENST00000309863.6	+	6	1705	c.991A>C	c.(991-993)Aat>Cat	p.N331H		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	331					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACAAGTAGTAAATGAAAAAGT	0.289																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(991-993)Aat>Cat		GRIP and coiled-coil domain containing 2							54.0	58.0	57.0					2																	109086776		2202	4290	6492	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086776A>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.991A>C	2.37:g.109086776A>C	ENSP00000307939:p.Asn331His						p.N331H	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	1705	+			331					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.991A>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	8.905	0.957250	0.18507	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409896;ENST00000393318	T	0.32272	1.46	5.5	-0.0798	0.13709	.	0.902405	0.09704	N	0.766630	T	0.16938	0.0407	L	0.27053	0.805	0.09310	N	1	P	0.34780	0.468	B	0.33620	0.167	T	0.21449	-1.0245	10	0.46703	T	0.11	.	1.339	0.02150	0.3261:0.1567:0.3542:0.1631	.	331	Q8IWJ2	GCC2_HUMAN	H	331;331;294;76	ENSP00000307939:N331H	ENSP00000307939:N331H	N	+	1	0	GCC2	108453208	0.514000	0.26202	0.124000	0.21820	0.920000	0.55202	0.879000	0.28146	0.102000	0.17638	0.460000	0.39030	AAT		0.289	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		19	40	0	0	0	1	0	19	40				
CLSTN1	22883	broad.mit.edu	37	1	9811693	9811693	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:9811693C>T	ENST00000377298.4	-	5	1279	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	163	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTTGAACACGGGCGCGTAC	0.507																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(487-489)Gtg>Atg		calsyntenin 1							97.0	86.0	90.0					1																	9811693		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9811693C>T	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.487G>A	1.37:g.9811693C>T	ENSP00000366513:p.Val163Met					CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	5	1279	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	163			Cadherin 1.		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.487G>A	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746320	0.69418	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000377288;ENST00000539822	T;T;T	0.47177	0.85;0.85;0.85	5.91	2.57	0.30868	Cadherin (3);Cadherin-like (1);	0.295967	0.36778	N	0.002420	T	0.54224	0.1845	M	0.85859	2.78	0.52099	D	0.999941	D;D;D	0.58268	0.969;0.982;0.969	B;P;B	0.46299	0.313;0.511;0.313	T	0.61969	-0.6953	10	0.62326	D	0.03	-26.1551	10.1466	0.42767	0.0:0.7413:0.1173:0.1413	.	163;153;163	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	M	163;153;163;163	ENSP00000366513:V163M;ENSP00000354997:V153M;ENSP00000366502:V163M	ENSP00000354997:V153M	V	-	1	0	CLSTN1	9734280	0.995000	0.38212	0.698000	0.30274	0.922000	0.55478	3.293000	0.51779	0.820000	0.34516	0.655000	0.94253	GTG		0.507	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			12	26	0	0	0	1	0	12	26				
PLXNC1	10154	broad.mit.edu	37	12	94703807	94703807	+	IGR	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94703807G>A	ENST00000258526.4	+	0	7346				CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R630*|CCDC41_ENST00000397809.5_Nonsense_Mutation_p.R630*	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATTAGACTTCGAAATTCATTA	0.348																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1888-1890)Cga>Tga		coiled-coil domain containing 41							207.0	192.0	197.0					12																	94703807		1845	4098	5943	SO:0001628	intergenic_variant	51134							g.chr12:94703807G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235		12.37:g.94703807G>A						CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R630*	p.R630*	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			16	2437	-			622					Q59H25	Nonsense_Mutation	SNP	ENST00000258526.4	37	c.1888C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	41	9.046201	0.99048	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809	.	.	.	5.94	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6944	16.2834	0.82708	0.0:0.0:0.8664:0.1336	.	.	.	.	X	94;630;630	.	ENSP00000344655:R630X	R	-	1	2	CCDC41	93227938	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.991000	0.63883	1.504000	0.48704	0.557000	0.71058	CGA		0.348	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			6	56	0	0	0	1	0	6	56				
UXS1	80146	broad.mit.edu	37	2	106713223	106713223	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:106713223C>A	ENST00000409501.3	-	14	1139	c.1082G>T	c.(1081-1083)aGa>aTa	p.R361I	UXS1_ENST00000409032.1_Missense_Mutation_p.R193I|UXS1_ENST00000283148.7_Missense_Mutation_p.R366I|UXS1_ENST00000540130.1_Missense_Mutation_p.R304I			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	361					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GTCTGGTTTTCTTTTCTGTGG	0.488																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(1096-1098)aGa>aTa		UDP-glucuronate decarboxylase 1							120.0	110.0	113.0					2																	106713223		1875	4116	5991	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106713223C>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1082G>T	2.37:g.106713223C>A	ENSP00000387019:p.Arg361Ile					UXS1_ENST00000540130.1_Missense_Mutation_p.R304I|UXS1_ENST00000409501.3_Missense_Mutation_p.R361I|UXS1_ENST00000409032.1_Missense_Mutation_p.R193I	p.R366I	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			14	1194	-			361					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.1097G>T	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792901	0.90453	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.91835	0.7416	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94242	0.7486	10	0.87932	D	0	-10.7715	14.4758	0.67546	0.0:0.9291:0.0:0.0708	.	366;361;366	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	I	366;304;361;193	ENSP00000283148:R366I;ENSP00000438265:R304I;ENSP00000387019:R361I;ENSP00000387096:R193I	ENSP00000283148:R366I	R	-	2	0	UXS1	106079655	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.423000	0.80229	1.379000	0.46325	0.557000	0.71058	AGA		0.488	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		3	6	1	0	0.004672	1	0.00483628	3	6				
RRBP1	6238	broad.mit.edu	37	20	17640992	17640992	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:17640992T>C	ENST00000377813.1	-	3	464	c.161A>G	c.(160-162)cAc>cGc	p.H54R	RRBP1_ENST00000377807.2_Missense_Mutation_p.H54R|RRBP1_ENST00000360807.4_Missense_Mutation_p.H54R|RRBP1_ENST00000246043.4_Missense_Mutation_p.H54R|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	54					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						GACTTTCTGGTGGTGAGTTTT	0.448																																						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.(160-162)cAc>cGc		ribosome binding protein 1							75.0	60.0	65.0					20																	17640992		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17640992T>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.161A>G	20.37:g.17640992T>C	ENSP00000367044:p.His54Arg					RRBP1_ENST00000377807.2_Missense_Mutation_p.H54R|RRBP1_ENST00000360807.4_Missense_Mutation_p.H54R|RRBP1_ENST00000246043.4_Missense_Mutation_p.H54R|RRBP1_ENST00000455029.2_Intron	p.H54R			Q9P2E9	RRBP1_HUMAN			3	464	-			54					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.161A>G		.	.	.	.	.	.	.	.	.	.	T	11.31	1.601497	0.28534	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	T;T;T;T;D	0.98345	1.59;2.0;1.59;2.0;-4.88	4.5	3.3	0.37823	.	0.000000	0.35151	N	0.003412	D	0.94149	0.8123	L	0.36672	1.1	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	D	0.88812	0.3292	10	0.05620	T	0.96	-19.8966	9.5901	0.39541	0.0:0.0:0.3215:0.6785	.	54	Q9P2E9-3	.	R	54	ENSP00000354045:H54R;ENSP00000367044:H54R;ENSP00000367038:H54R;ENSP00000246043:H54R;ENSP00000381762:H54R	ENSP00000246043:H54R	H	-	2	0	RRBP1	17588992	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.666000	0.54540	1.811000	0.52892	0.459000	0.35465	CAC		0.448	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		3	22	0	0	0	1	0	3	22				
NLRP9	338321	broad.mit.edu	37	19	56243645	56243645	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56243645C>A	ENST00000332836.2	-	2	1579	c.1552G>T	c.(1552-1554)Gac>Tac	p.D518Y		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	518						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGCTTTAGGTCTTTTGACAGT	0.418																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(1552-1554)Gac>Tac		NLR family, pyrin domain containing 9							78.0	77.0	78.0					19																	56243645		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56243645C>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1552G>T	19.37:g.56243645C>A	ENSP00000331857:p.Asp518Tyr						p.D518Y	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1579	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	518					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1552G>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	5.357	0.251155	0.10130	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.73469	-0.75	2.56	1.52	0.23074	.	.	.	.	.	T	0.63965	0.2556	L	0.46157	1.445	0.09310	N	1	B	0.14438	0.01	B	0.17098	0.017	T	0.54879	-0.8227	9	0.46703	T	0.11	.	5.3889	0.16234	0.0:0.8406:0.0:0.1594	.	518	Q7RTR0	NALP9_HUMAN	Y	518	ENSP00000331857:D518Y	ENSP00000331857:D518Y	D	-	1	0	NLRP9	60935457	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.212000	0.17497	0.678000	0.31325	0.644000	0.83932	GAC		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		41	63	1	0	2.19489e-29	1	3.12373e-29	41	63				
FYN	2534	broad.mit.edu	37	6	111983095	111983095	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111983095G>A	ENST00000354650.3	-	14	2067	c.1461C>T	c.(1459-1461)tgC>tgT	p.C487C	FYN_ENST00000368667.2_Silent_p.C487C|FYN_ENST00000538466.1_Silent_p.C484C|FYN_ENST00000229470.5_Silent_p.C435C|FYN_ENST00000368682.3_Silent_p.C484C|FYN_ENST00000356013.2_Silent_p.C432C|FYN_ENST00000368678.4_Silent_p.C484C|FYN_ENST00000229471.4_Silent_p.C432C	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGTCCTGCGGGCAGGGCATCC	0.597																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1459-1461)tgC>tgT		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						119.0	121.0	120.0					6																	111983095		2203	4300	6503	SO:0001819	synonymous_variant	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111983095G>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1461C>T	6.37:g.111983095G>A						FYN_ENST00000368667.2_Silent_p.C487C|FYN_ENST00000356013.2_Silent_p.C432C|FYN_ENST00000229471.4_Silent_p.C432C|FYN_ENST00000368682.3_Silent_p.C484C|FYN_ENST00000538466.1_Silent_p.C484C|FYN_ENST00000368678.4_Silent_p.C484C|FYN_ENST00000229470.5_Silent_p.C435C	p.C487C	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	14	2067	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	487			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Silent	SNP	ENST00000354650.3	37	c.1461C>T	CCDS5094.1																																																																																				0.597	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			43	86	0	0	0	1	0	43	86				
CTNND2	1501	broad.mit.edu	37	5	11018149	11018149	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:11018149C>T	ENST00000304623.8	-	18	3210	c.3021G>A	c.(3019-3021)aaG>aaA	p.K1007K	CTNND2_ENST00000359640.2_Silent_p.K949K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.K916K|CTNND2_ENST00000458100.2_Silent_p.K574K|CTNND2_ENST00000503622.1_Silent_p.K670K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1007					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGATGCAGCCTTGACCACTT	0.473																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(3019-3021)aaG>aaA		catenin (cadherin-associated protein), delta 2							134.0	121.0	126.0					5																	11018149		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11018149C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3021G>A	5.37:g.11018149C>T						CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.K916K|CTNND2_ENST00000458100.2_Silent_p.K574K|CTNND2_ENST00000359640.2_Silent_p.K949K|CTNND2_ENST00000503622.1_Silent_p.K670K	p.K1007K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			18	3210	-			1007					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.3021G>A	CCDS3881.1																																																																																				0.473	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		7	35	0	0	0	1	0	7	35				
ADAP2	55803	broad.mit.edu	37	17	29261312	29261312	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29261312A>G	ENST00000330889.3	+	5	842	c.507A>G	c.(505-507)gaA>gaG	p.E169E	ADAP2_ENST00000580525.1_Silent_p.E175E	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	169	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCACAAAGGAACAGGTAAGAT	0.473																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(505-507)gaA>gaG		ArfGAP with dual PH domains 2							67.0	56.0	60.0					17																	29261312		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29261312A>G	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.507A>G	17.37:g.29261312A>G						ADAP2_ENST00000580525.1_Silent_p.E175E	p.E169E	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			5	842	+			169			PH 1.		Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.507A>G	CCDS11261.1																																																																																				0.473	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		9	22	0	0	0	1	0	9	22				
UNC119B	84747	broad.mit.edu	37	12	121151136	121151136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:121151136C>T	ENST00000344651.4	+	2	344	c.304C>T	c.(304-306)Cga>Tga	p.R102*	UNC119B_ENST00000539658.1_3'UTR	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	102					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTCAAAATTCGAGATTTGGA	0.403																																						ENST00000344651.4																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9						c.(304-306)Cga>Tga		unc-119 homolog B (C. elegans)							138.0	130.0	133.0					12																	121151136		2203	4300	6503	SO:0001587	stop_gained	84747							g.chr12:121151136C>T		CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog B (Chlamydomonas)"""		"""unc119 (C.elegans) homolog B"""				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.304C>T	12.37:g.121151136C>T	ENSP00000344942:p.Arg102*					UNC119B_ENST00000539658.1_3'UTR	p.R102*	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN			2	344	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		102						Nonsense_Mutation	SNP	ENST00000344651.4	37	c.304C>T	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112278	0.94339	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0769	13.9499	0.64111	0.1516:0.8484:0.0:0.0	.	.	.	.	X	102	.	ENSP00000344942:R102X	R	+	1	2	UNC119B	119635519	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.308000	0.33528	2.724000	0.93272	0.563000	0.77884	CGA		0.403	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		15	42	0	0	0	1	0	15	42				
CASP8	841	broad.mit.edu	37	2	202131412	202131412	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202131412G>A	ENST00000432109.2	+	3	392	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	CASP8_ENST00000264274.9_Missense_Mutation_p.R68Q|CASP8_ENST00000392259.2_Missense_Mutation_p.R68Q|CASP8_ENST00000392266.3_Missense_Mutation_p.R68Q|CASP8_ENST00000392258.3_Missense_Mutation_p.R68Q|CASP8_ENST00000264275.5_Missense_Mutation_p.R68Q|CASP8_ENST00000358485.4_Missense_Mutation_p.R127Q|CASP8_ENST00000323492.7_Missense_Mutation_p.R68Q	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	68	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGCTCTTCCGAATTAATAGA	0.453										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(379-381)cGa>cAa		caspase 8, apoptosis-related cysteine peptidase							65.0	66.0	66.0					2																	202131412		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202131412G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.203G>A	2.37:g.202131412G>A	ENSP00000412523:p.Arg68Gln	HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Missense_Mutation_p.R68Q|CASP8_ENST00000264275.5_Missense_Mutation_p.R68Q|CASP8_ENST00000323492.7_Missense_Mutation_p.R68Q|CASP8_ENST00000432109.2_Missense_Mutation_p.R68Q|CASP8_ENST00000392266.3_Missense_Mutation_p.R68Q|CASP8_ENST00000392258.3_Missense_Mutation_p.R68Q|CASP8_ENST00000392259.2_Missense_Mutation_p.R68Q	p.R127Q	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			2	576	+			68			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.380G>A	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250334	0.59212	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.58	-0.963	0.10330	DEATH-like (2);Death effector (3);	0.756955	0.12477	N	0.465525	T	0.79661	0.4484	M	0.75150	2.29	0.09310	N	1	B;P;P;P;P;P;P;P;D	0.58970	0.236;0.746;0.949;0.894;0.852;0.58;0.673;0.524;0.984	B;B;B;P;B;B;B;B;P	0.47299	0.016;0.404;0.424;0.543;0.332;0.26;0.118;0.133;0.463	T	0.69427	-0.5148	10	0.02654	T	1	.	9.7004	0.40182	0.4848:0.0:0.5152:0.0	.	68;68;68;68;127;68;68;68;68	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	Q	68;68;68;68;68;68;68;68;68;127;68;68;68;68	ENSP00000376091:R68Q;ENSP00000264274:R68Q;ENSP00000376088:R68Q;ENSP00000376094:R68Q;ENSP00000412523:R68Q;ENSP00000264275:R68Q;ENSP00000396869:R68Q;ENSP00000376087:R68Q;ENSP00000388306:R68Q;ENSP00000351273:R127Q;ENSP00000397528:R68Q;ENSP00000325722:R68Q;ENSP00000390641:R68Q	ENSP00000264274:R68Q	R	+	2	0	CASP8	201839657	0.001000	0.12720	0.034000	0.17996	0.073000	0.16967	-0.167000	0.09940	-0.223000	0.09943	-0.291000	0.09656	CGA		0.453	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		13	32	0	0	0	1	0	13	32				
PRF1	5551	broad.mit.edu	37	10	72360548	72360548	+	Silent	SNP	G	G	A	rs547321451	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:72360548G>A	ENST00000441259.1	-	2	271	c.111C>T	c.(109-111)ttC>ttT	p.F37F	PRF1_ENST00000373209.2_Silent_p.F37F	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	37	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CACCAGGCACGAACTTGTGGC	0.687			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				G|||	14	0.00279553	0.0	0.0	5008	,	,		16308	0.0		0.0	False		,,,				2504	0.0143					ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(109-111)ttC>ttT		perforin 1 (pore forming protein)							28.0	30.0	29.0					10																	72360548		2202	4297	6499	SO:0001819	synonymous_variant	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360548G>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.111C>T	10.37:g.72360548G>A						PRF1_ENST00000373209.2_Silent_p.F37F	p.F37F	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			2	271	-			37			MACPF.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.111C>T	CCDS7305.1																																																																																				0.687	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		7	29	0	0	0	1	0	7	29				
DSEL	92126	broad.mit.edu	37	18	65180565	65180565	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65180565T>C	ENST00000310045.7	-	2	2784	c.1311A>G	c.(1309-1311)acA>acG	p.T437T	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	427					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTTGGTCTGTGTGTTTGGCA	0.483																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1309-1311)acA>acG		dermatan sulfate epimerase-like							73.0	67.0	69.0					18																	65180565		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180565T>C	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1311A>G	18.37:g.65180565T>C						CTD-2541J13.2_ENST00000583493.1_RNA	p.T437T	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	2784	-		Esophageal squamous(42;0.129)	427					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.1311A>G	CCDS11995.1																																																																																				0.483	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		14	33	0	0	0	1	0	14	33				
TET2	54790	broad.mit.edu	37	4	106158562	106158562	+	Intron	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:106158562T>C	ENST00000540549.1	+	3	4269				TET2_ENST00000413648.2_Intron|TET2_ENST00000513237.1_Intron|TET2_ENST00000380013.4_Intron|TET2_ENST00000305737.2_Silent_p.L1155L|TET2_ENST00000545826.1_Intron|TET2_ENST00000394764.1_Silent_p.L1155L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2						5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTAGCAAATTTATCTTCAGA	0.353			"""Mis N, F"""		MDS																																	ENST00000305737.2				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(3463-3465)Tta>Cta		tet methylcytosine dioxygenase 2							47.0	52.0	51.0					4																	106158562		2161	4278	6439	SO:0001627	intron_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158562T>C	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3409+54T>C	4.37:g.106158562T>C						TET2_ENST00000545826.1_Intron|TET2_ENST00000540549.1_Intron|TET2_ENST00000413648.2_Intron|TET2_ENST00000513237.1_Intron|TET2_ENST00000394764.1_Silent_p.L1155L|TET2_ENST00000380013.4_Intron	p.L1155L	NM_017628.4	NP_060098.3	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3867	+		Myeloproliferative disorder(5;0.0393)	0					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.3463T>C	CCDS47120.1																																																																																				0.353	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		16	30	0	0	0	1	0	16	30				
CYP4F8	11283	broad.mit.edu	37	19	15739598	15739598	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15739598G>A	ENST00000441682.2	+	0	1403							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTTCGACCCAGAAAACGCCCA	0.602																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							60.0	63.0	62.0					19																	15739598		1963	4170	6133			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739598G>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739598G>A										P98187	CP4F8_HUMAN			0	1403	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	9.917	1.211069	0.22289	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.32	2.19	0.27852	.	0.604873	0.14758	U	0.300150	T	0.47746	0.1462	.	.	.	0.34078	D	0.659270	B;B	0.23990	0.022;0.095	B;B	0.37451	0.071;0.25	T	0.59495	-0.7444	7	0.59425	D	0.04	.	7.34	0.26632	0.1553:0.0:0.8447:0.0	.	260;448	B4DU85;P98187	.;CP4F8_HUMAN	K	447;260	.	ENSP00000314398:E260K	E	+	1	0	CYP4F8	15600598	0.358000	0.24947	0.618000	0.29105	0.228000	0.25075	2.091000	0.41691	1.681000	0.50988	0.436000	0.28706	GAA		0.602	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		28	60	0	0	0	1	0	28	60				
JPH1	56704	broad.mit.edu	37	8	75156775	75156775	+	Nonsense_Mutation	SNP	C	C	A	rs75912309		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:75156775C>A	ENST00000342232.4	-	4	1934	c.1894G>T	c.(1894-1896)Gaa>Taa	p.E632*	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	632					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAATTGGCTTCTTTTTCCAAA	0.433																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1894-1896)Gaa>Taa		junctophilin 1							154.0	137.0	143.0					8																	75156775		2203	4300	6503	SO:0001587	stop_gained	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75156775C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1894G>T	8.37:g.75156775C>A	ENSP00000344488:p.Glu632*					JPH1_ENST00000518195.1_5'UTR	p.E632*	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		4	1934	-	Breast(64;0.00576)		632					B2RTZ0	Nonsense_Mutation	SNP	ENST00000342232.4	37	c.1894G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	39	7.480491	0.98309	.	.	ENSG00000104369	ENST00000342232	.	.	.	5.44	5.44	0.79542	.	0.226726	0.37669	N	0.001985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	19.4628	0.94924	0.0:1.0:0.0:0.0	.	.	.	.	X	632	.	ENSP00000344488:E632X	E	-	1	0	JPH1	75319329	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.919000	0.56439	2.837000	0.97791	0.655000	0.94253	GAA		0.433	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			35	82	1	0	3.6622e-26	1	5.17531e-26	35	82				
ISG20L2	81875	broad.mit.edu	37	1	156697363	156697363	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156697363A>C	ENST00000313146.6	-	1	864	c.82T>G	c.(82-84)Ttt>Gtt	p.F28V	ISG20L2_ENST00000368219.1_Missense_Mutation_p.F28V|RRNAD1_ENST00000368218.4_5'Flank|ISG20L2_ENST00000472824.2_5'Flank|RRNAD1_ENST00000368216.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	28					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTTGACAAAATTTCGGTGC	0.468																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(82-84)Ttt>Gtt		interferon stimulated exonuclease gene 20kDa-like 2							70.0	79.0	76.0					1																	156697363		2203	4300	6503	SO:0001583	missense	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156697363A>C	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.82T>G	1.37:g.156697363A>C	ENSP00000323424:p.Phe28Val					ISG20L2_ENST00000368219.1_Missense_Mutation_p.F28V	p.F28V	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			1	864	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		28					D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	c.82T>G	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055616	0.75960	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.51574	0.7;0.7	5.41	4.29	0.51040	.	0.523930	0.17008	N	0.190628	T	0.40595	0.1123	L	0.36672	1.1	0.39991	D	0.97504	D	0.61697	0.99	P	0.62491	0.903	T	0.42310	-0.9459	10	0.72032	D	0.01	.	7.7094	0.28669	0.9076:0.0:0.0924:0.0	.	28	Q9H9L3	I20L2_HUMAN	V	28	ENSP00000323424:F28V;ENSP00000357202:F28V	ENSP00000323424:F28V	F	-	1	0	ISG20L2	154963987	1.000000	0.71417	0.808000	0.32385	0.998000	0.95712	6.447000	0.73465	1.077000	0.40990	0.533000	0.62120	TTT		0.468	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		46	61	0	0	0	1	0	46	61				
OR2L13	284521	broad.mit.edu	37	1	248262683	248262683	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248262683G>T	ENST00000358120.2	+	2	151	c.6G>T	c.(4-6)gaG>gaT	p.E2D	OR2L13_ENST00000366478.2_Missense_Mutation_p.E2D			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TTTTCATGGAGAAATGGAATC	0.333																																						ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(4-6)gaG>gaT		olfactory receptor, family 2, subfamily L, member 13							111.0	108.0	109.0					1																	248262683		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262683G>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.6G>T	1.37:g.248262683G>T	ENSP00000350836:p.Glu2Asp					OR2L13_ENST00000358120.2_Missense_Mutation_p.E2D	p.E2D	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	343	+	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)		2					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.6G>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560381	0.27827	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.03035	4.07;4.07	3.74	2.82	0.32997	.	0.492718	0.16875	N	0.195957	T	0.02083	0.0065	N	0.05619	-0.0049999999999999	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.44329	-0.9335	10	0.41790	T	0.15	.	6.0991	0.20037	0.1019:0.0:0.7136:0.1846	.	2	Q8N349	OR2LD_HUMAN	D	2	ENSP00000355434:E2D;ENSP00000350836:E2D	ENSP00000350836:E2D	E	+	3	2	OR2L13	246329306	0.000000	0.05858	0.985000	0.45067	0.935000	0.57460	-1.838000	0.01687	0.901000	0.36495	0.650000	0.86243	GAG		0.333	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		21	35	1	0	7.41877e-09	1	8.8016e-09	21	35				
C9orf43	257169	broad.mit.edu	37	9	116187673	116187673	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116187673G>A	ENST00000288462.4	+	10	1361	c.915G>A	c.(913-915)aaG>aaA	p.K305K	C9orf43_ENST00000374165.1_Silent_p.K305K	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	305								p.K305N(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcaacagAAGAAGGTGAAAA	0.542																																						ENST00000288462.4																			1	Substitution - Missense(1)	p.K305N(1)	large_intestine(1)	breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(913-915)aaG>aaA		chromosome 9 open reading frame 43							67.0	63.0	65.0					9																	116187673		2203	4300	6503	SO:0001819	synonymous_variant	257169							g.chr9:116187673G>A	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.915G>A	9.37:g.116187673G>A						C9orf43_ENST00000374165.1_Silent_p.K305K	p.K305K	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1361	+			305						Silent	SNP	ENST00000288462.4	37	c.915G>A	CCDS6796.1																																																																																				0.542	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		19	48	0	0	0	1	0	19	48				
LRRIQ3	127255	broad.mit.edu	37	1	74649284	74649284	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74649284C>A	ENST00000395089.1	-	1	84	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.D29Y			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	29										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						aaaacaAAATCTTTTTGACCT	0.333																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(85-87)Gat>Tat		leucine-rich repeats and IQ motif containing 3							59.0	61.0	60.0					1																	74649284		2200	4295	6495	SO:0001583	missense	127255							g.chr1:74649284C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.85G>T	1.37:g.74649284C>A	ENSP00000378524:p.Asp29Tyr					LRRIQ3_ENST00000370909.2_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.D29Y	p.D29Y	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			2	276	-			29					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.85G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342447	0.61073	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911	T;T;T;T	0.39997	1.76;1.76;1.05;1.76	5.06	3.06	0.35304	.	0.545906	0.16530	N	0.210384	T	0.36744	0.0978	L	0.29908	0.895	0.33144	D	0.54483	D	0.89917	1.0	D	0.75484	0.986	T	0.32508	-0.9904	10	0.87932	D	0	.	9.85	0.41051	0.0:0.7777:0.1406:0.0817	.	29	A6PVS8	LRIQ3_HUMAN	Y	29	ENSP00000378524:D29Y;ENSP00000346414:D29Y;ENSP00000359946:D29Y;ENSP00000359948:D29Y	ENSP00000346414:D29Y	D	-	1	0	LRRIQ3	74421872	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.600000	0.46240	1.243000	0.43853	0.655000	0.94253	GAT		0.333	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		9	10	1	0	0.00621372	1	0.0064192	9	10				
HRNR	388697	broad.mit.edu	37	1	152193031	152193031	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152193031G>T	ENST00000368801.2	-	3	1149	c.1074C>A	c.(1072-1074)tcC>tcA	p.S358S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	358					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)			TATAGCCAGAGGACTGTCCTG	0.547																																						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.(1072-1074)tcC>tcA		hornerin							141.0	139.0	139.0					1																	152193031		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193031G>T	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.1074C>A	1.37:g.152193031G>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S358S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1149	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		358					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1074C>A	CCDS30859.1																																																																																				0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		53	139	1	0	7.77372e-23	1	1.08358e-22	53	139				
CXXC1	30827	broad.mit.edu	37	18	47809356	47809356	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:47809356G>A	ENST00000285106.6	-	14	2406	c.1692C>T	c.(1690-1692)tgC>tgT	p.C564C	MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000588937.1_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000382948.5_5'Flank|CXXC1_ENST00000412036.2_Silent_p.C568C|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.A552V|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000424334.2_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	564					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)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGGGGCACCCGCATACCTCGT	0.592																																						ENST00000589940.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1654-1656)gCg>gTg		CXXC finger protein 1							53.0	54.0	53.0					18																	47809356		2203	4300	6503	SO:0001819	synonymous_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47809356G>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1692C>T	18.37:g.47809356G>A						CXXC1_ENST00000412036.2_Silent_p.C568C|CXXC1_ENST00000285106.6_Silent_p.C564C	p.A552V			Q9P0U4	CXXC1_HUMAN			14	1716	-			0					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1655C>T	CCDS11945.1																																																																																				0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		23	46	0	0	0	1	0	23	46				
PDE8B	8622	broad.mit.edu	37	5	76645304	76645304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76645304G>T	ENST00000264917.5	+	8	982	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	PDE8B_ENST00000342343.4_Nonsense_Mutation_p.E293*|PDE8B_ENST00000333194.4_Nonsense_Mutation_p.E313*|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	313	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CCTGGGAAAAGAACTCGCTGA	0.502																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(937-939)Gaa>Taa		phosphodiesterase 8B							133.0	114.0	121.0					5																	76645304		2203	4300	6503	SO:0001587	stop_gained	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76645304G>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.937G>T	5.37:g.76645304G>T	ENSP00000264917:p.Glu313*					PDE8B_ENST00000342343.4_Nonsense_Mutation_p.E293*|PDE8B_ENST00000333194.4_Nonsense_Mutation_p.E313*|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron	p.E313*	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	8	982	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	313			PAS.		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Nonsense_Mutation	SNP	ENST00000264917.5	37	c.937G>T	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	37	6.407026	0.97542	.	.	ENSG00000113231	ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	.	.	.	5.76	5.76	0.90799	.	0.166894	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.7409	0.91773	0.0:0.0:1.0:0.0	.	.	.	.	X	313;293;313;75	.	ENSP00000264917:E313X	E	+	1	0	PDE8B	76681060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.501000	0.97979	2.733000	0.93635	0.655000	0.94253	GAA		0.502	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		30	64	1	0	8.58068e-18	1	1.15595e-17	30	64				
ZNF629	23361	broad.mit.edu	37	16	30793260	30793260	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30793260T>C	ENST00000262525.4	-	3	2596	c.2389A>G	c.(2389-2391)Aat>Gat	p.N797D	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	797					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TCCTCGGGATTGGGGGGTTTT	0.657																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2389-2391)Aat>Gat		zinc finger protein 629							79.0	94.0	89.0					16																	30793260		1909	4109	6018	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793260T>C	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2389A>G	16.37:g.30793260T>C	ENSP00000262525:p.Asn797Asp						p.N797D	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2596	-			797					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.2389A>G	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	T	9.085	1.000176	0.19121	.	.	ENSG00000102870	ENST00000262525	T	0.07688	3.17	5.65	2.0	0.26442	.	3.833270	0.00843	N	0.001779	T	0.04952	0.0133	N	0.08118	0	0.21256	N	0.999745	B	0.06786	0.001	B	0.06405	0.002	T	0.32877	-0.9890	10	0.33940	T	0.23	12.4802	2.62	0.04914	0.1388:0.0826:0.1958:0.5829	.	797	Q9UEG4	ZN629_HUMAN	D	797	ENSP00000262525:N797D	ENSP00000262525:N797D	N	-	1	0	ZNF629	30700761	0.009000	0.17119	0.707000	0.30419	0.192000	0.23643	-0.234000	0.09028	0.345000	0.23873	0.459000	0.35465	AAT		0.657	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		10	135	0	0	0	1	0	10	135				
HEATR6	63897	broad.mit.edu	37	17	58137338	58137338	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58137338G>A	ENST00000184956.6	-	10	1552	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	HEATR6_ENST00000585976.1_Silent_p.I512I	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	512							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TGCTGCAAGCGATCATTACGG	0.443																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1534-1536)atC>atT		HEAT repeat containing 6							181.0	181.0	181.0					17																	58137338		2203	4300	6503	SO:0001819	synonymous_variant	63897						binding	g.chr17:58137338G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1536C>T	17.37:g.58137338G>A						HEATR6_ENST00000585976.1_Silent_p.I512I	p.I512I	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		10	1552	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		512					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.1536C>T	CCDS11623.1																																																																																				0.443	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		82	153	0	0	0	1	0	82	153				
WNT9A	7483	broad.mit.edu	37	1	228111950	228111950	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:228111950G>A	ENST00000272164.5	-	3	514	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	168					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GGTTGTCTCCGCAGCCCCCCC	0.627																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(502-504)tgC>tgT		wingless-type MMTV integration site family, member 9A							108.0	105.0	106.0					1																	228111950		2203	4300	6503	SO:0001819	synonymous_variant	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228111950G>A	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.504C>T	1.37:g.228111950G>A						WNT9A_ENST00000497852.1_Intron	p.C168C	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			3	514	-		Prostate(94;0.0405)	168					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	c.504C>T	CCDS31045.1																																																																																				0.627	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		73	107	0	0	0	1	0	73	107				
NUP107	57122	broad.mit.edu	37	12	69084386	69084386	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69084386C>A	ENST00000229179.4	+	4	519				NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.L26I	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACTTTAGGTTCTTTCTACCAA	0.378																																						ENST00000539906.1																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(76-78)Ctt>Att		nucleoporin 107kDa							70.0	68.0	69.0					12																	69084386		2203	4300	6503	SO:0001627	intron_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69084386C>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.188-25C>A	12.37:g.69084386C>A						NUP107_ENST00000229179.4_Intron|NUP107_ENST00000378905.2_Intron	p.L26I			P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		4	320	+	Breast(13;6.25e-06)		0					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.76C>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	C	2.002	-0.429133	0.04701	.	.	ENSG00000111581	ENST00000539906	.	.	.	5.24	2.4	0.29515	.	.	.	.	.	T	0.25865	0.0630	.	.	.	0.18873	N	0.999982	B	0.20052	0.041	B	0.16289	0.015	T	0.18999	-1.0319	6	.	.	.	.	7.945	0.29980	0.0:0.6749:0.0:0.3251	.	26	B4DZ67	.	I	26	.	.	L	+	1	0	NUP107	67370653	0.865000	0.29922	0.035000	0.18076	0.036000	0.12997	-0.019000	0.12546	0.735000	0.32537	-0.794000	0.03295	CTT		0.378	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		20	40	1	0	1.00905e-13	1	1.29777e-13	20	40				
CDKN2A	1029	broad.mit.edu	37	9	21974699	21974699	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21974699C>A	ENST00000304494.5	-	1	398	c.128G>T	c.(127-129)aGt>aTt	p.S43I	CDKN2A_ENST00000446177.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.S43I	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	43					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.S43I(6)|p.S43fs*76(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGACCGTAACTATTCGGTGC	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1347	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(6)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.0?(1315)|p.?(23)|p.S43I(6)|p.S43fs*76(1)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(127-129)aGt>aTt		cyclin-dependent kinase inhibitor 2A							52.0	62.0	58.0					9																	21974699		2203	4300	6503	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974699C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.128G>T	9.37:g.21974699C>A	ENSP00000307101:p.Ser43Ile	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579122.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.S43I|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron	p.S43I	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	398	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	43					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.128G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501395	0.64298	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.78595	-1.19;-1.19	4.89	3.97	0.46021	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.76557	0.4004	L	0.58354	1.805	0.27852	N	0.940707	P;D	0.54601	0.77;0.967	B;P	0.49085	0.33;0.6	T	0.67260	-0.5715	9	0.34782	T	0.22	.	8.0458	0.30549	0.175:0.6419:0.183:0.0	.	43;43	P42771;G3XAG3	CD2A1_HUMAN;.	I	43	ENSP00000307101:S43I;ENSP00000394932:S43I	ENSP00000307101:S43I	S	-	2	0	CDKN2A	21964699	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.018000	0.12568	1.363000	0.46019	0.655000	0.94253	AGT		0.687	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		19	143	1	0	3.32936e-07	1	3.80431e-07	19	143				
DOCK4	9732	broad.mit.edu	37	7	111584871	111584871	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111584871C>T	ENST00000437633.1	-	10	1095	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.R280Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	280					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCTACCGATTCGGATAATGTG	0.418																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(838-840)cGa>cAa		dedicator of cytokinesis 4							128.0	122.0	124.0					7																	111584871		1912	4125	6037	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111584871C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.839G>A	7.37:g.111584871C>T	ENSP00000404179:p.Arg280Gln					DOCK4_ENST00000437633.1_Missense_Mutation_p.R280Q|DOCK4_ENST00000476846.1_5'UTR	p.R280Q			Q8N1I0	DOCK4_HUMAN			10	1111	-		Acute lymphoblastic leukemia(1;0.0441)	280					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.839G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.504238|5.504238	0.96371|0.96371	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.11712	.|2.75;2.77	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40398|0.40398	0.1115|0.1115	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;0.999	T|T	0.21280|0.21280	-1.0250|-1.0250	5|10	.|0.87932	.|D	.|0	.|.	20.2406|20.2406	0.98372|0.98372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|280;280;280	.|A4D0S8;Q149N5;Q8N1I0	.|.;.;DOCK4_HUMAN	K|Q	268|268;280;280;268;279	.|ENSP00000410746:R280Q;ENSP00000404179:R280Q	.|ENSP00000345432:R268Q	E|R	-|-	1|2	0|0	DOCK4|DOCK4	111372107|111372107	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.865000|0.865000	0.49528|0.49528	6.730000|6.730000	0.74780|0.74780	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.418	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	24	0	0	0	1	0	6	24				
ADCY7	113	broad.mit.edu	37	16	50326626	50326626	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50326626A>C	ENST00000394697.2	+	5	917	c.577A>C	c.(577-579)Aca>Cca	p.T193P	ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000537579.1_Missense_Mutation_p.T193P|ADCY7_ENST00000538642.1_Missense_Mutation_p.T193P|ADCY7_ENST00000254235.3_Missense_Mutation_p.T193P|ADCY7_ENST00000566433.2_Missense_Mutation_p.T193P			P51828	ADCY7_HUMAN	adenylate cyclase 7	193					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)|cellular response to ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGGGAACCTGACAGGCGCCTT	0.597																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(577-579)Aca>Cca		adenylate cyclase 7	Bromocriptine(DB01200)						94.0	79.0	84.0					16																	50326626		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50326626A>C	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.577A>C	16.37:g.50326626A>C	ENSP00000378187:p.Thr193Pro					ADCY7_ENST00000538642.1_Missense_Mutation_p.T193P|ADCY7_ENST00000537579.1_Missense_Mutation_p.T193P|ADCY7_ENST00000566433.2_Missense_Mutation_p.T193P|ADCY7_ENST00000254235.3_Missense_Mutation_p.T193P|ADCY7_ENST00000564044.1_3'UTR	p.T193P			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	5	917	+		all_cancers(37;0.0127)	193					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.577A>C	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.904067	0.33628	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;T;T;T	0.81330	-0.93;-1.48;-0.99;-1.48	4.87	3.78	0.43462	.	0.138389	0.31624	U	0.007321	T	0.76378	0.3979	L	0.61218	1.895	0.34554	D	0.71163	B;B	0.12630	0.005;0.006	B;B	0.12156	0.005;0.007	T	0.77161	-0.2689	10	0.49607	T	0.09	.	10.4171	0.44329	0.9233:0.0:0.0767:0.0	.	193;193	P51828;F5H4D1	ADCY7_HUMAN;.	P	193	ENSP00000445046:T193P;ENSP00000378187:T193P;ENSP00000437788:T193P;ENSP00000254235:T193P	ENSP00000254235:T193P	T	+	1	0	ADCY7	48884127	0.965000	0.33210	0.994000	0.49952	0.474000	0.32979	3.212000	0.51145	0.889000	0.36185	0.533000	0.62120	ACA		0.597	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			23	55	0	0	0	1	0	23	55				
OR5T3	390154	broad.mit.edu	37	11	56020296	56020296	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56020296C>A	ENST00000303059.3	+	1	621	c.621C>A	c.(619-621)gtC>gtA	p.V207V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTAGGCATGTCTTTTGTGATA	0.408																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(619-621)gtC>gtA		olfactory receptor, family 5, subfamily T, member 3							264.0	244.0	251.0					11																	56020296		2201	4295	6496	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020296C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.621C>A	11.37:g.56020296C>A							p.V207V	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	621	+	Esophageal squamous(21;0.00448)		207					Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.621C>A	CCDS31524.1																																																																																				0.408	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		70	122	1	0	1.26778e-28	1	1.80291e-28	70	122				
EXPH5	23086	broad.mit.edu	37	11	108380999	108380999	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108380999G>T	ENST00000265843.4	-	6	5345	c.5235C>A	c.(5233-5235)ttC>ttA	p.F1745L	EXPH5_ENST00000525344.1_Missense_Mutation_p.F1738L|EXPH5_ENST00000443411.1_Missense_Mutation_p.F1557L|EXPH5_ENST00000428840.1_Missense_Mutation_p.F1669L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1745					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GATTGTCAGAGAATTCTGCTT	0.488																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(5233-5235)ttC>ttA		exophilin 5							79.0	85.0	83.0					11																	108380999		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380999G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5235C>A	11.37:g.108380999G>T	ENSP00000265843:p.Phe1745Leu					EXPH5_ENST00000428840.1_Missense_Mutation_p.F1669L|EXPH5_ENST00000443411.1_Missense_Mutation_p.F1557L|EXPH5_ENST00000525344.1_Missense_Mutation_p.F1738L	p.F1745L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5345	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1745					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5235C>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	4.405	0.074753	0.08485	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312	T;T;T;T;T	0.02656	4.44;4.36;4.21;4.44;4.29	5.8	4.76	0.60689	.	0.826150	0.11103	N	0.599424	T	0.03053	0.0090	L	0.43152	1.355	0.09310	N	1	B	0.20052	0.041	B	0.20955	0.032	T	0.49303	-0.8954	10	0.11182	T	0.66	0.4056	5.9439	0.19207	0.1178:0.0:0.6939:0.1883	.	1745	Q8NEV8	EXPH5_HUMAN	L	1745;1669;1557;1738;575;1669	ENSP00000265843:F1745L;ENSP00000391966:F1669L;ENSP00000411390:F1557L;ENSP00000432546:F1738L;ENSP00000432683:F1669L	ENSP00000265843:F1745L	F	-	3	2	EXPH5	107886209	0.140000	0.22579	0.063000	0.19743	0.199000	0.23934	0.811000	0.27198	1.203000	0.43233	0.655000	0.94253	TTC		0.488	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		38	78	1	0	1.06647e-15	1	1.40869e-15	38	78				
KCMF1	56888	broad.mit.edu	37	2	85255047	85255047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:85255047C>T	ENST00000409785.4	+	2	411	c.52C>T	c.(52-54)Cga>Tga	p.R18*		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	18							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						AGGAAATTTTCGAGGTCGCAG	0.353																																						ENST00000409785.3																			0				ovary(3)	3						c.(52-54)Cga>Tga		potassium channel modulatory factor 1							98.0	89.0	92.0					2																	85255047		1894	4148	6042	SO:0001587	stop_gained	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85255047C>T	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.52C>T	2.37:g.85255047C>T	ENSP00000386738:p.Arg18*						p.R18*	NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN			2	411	+			18					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Nonsense_Mutation	SNP	ENST00000409785.4	37	c.52C>T	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	C	37	6.516813	0.97629	.	.	ENSG00000176407	ENST00000409785	.	.	.	5.46	5.46	0.80206	.	0.113394	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8395	16.7859	0.85574	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000386738:R18X	R	+	1	2	KCMF1	85108558	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.522000	0.45572	2.559000	0.86315	0.591000	0.81541	CGA		0.353	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		12	17	0	0	0	1	0	12	17				
SPIC	121599	broad.mit.edu	37	12	101873373	101873373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101873373C>A	ENST00000551346.1	+	4	270	c.111C>A	c.(109-111)taC>taA	p.Y37*	SPIC_ENST00000299272.5_Nonsense_Mutation_p.Y37*			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	37					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACAGAAATTACCTGGCTTTAA	0.338																																						ENST00000551346.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(109-111)taC>taA		Spi-C transcription factor (Spi-1/PU.1 related)							65.0	65.0	65.0					12																	101873373		2203	4300	6503	SO:0001587	stop_gained	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101873373C>A	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.111C>A	12.37:g.101873373C>A	ENSP00000448580:p.Tyr37*					SPIC_ENST00000299272.5_Nonsense_Mutation_p.Y37*	p.Y37*			Q8N5J4	SPIC_HUMAN			4	270	+			37						Nonsense_Mutation	SNP	ENST00000551346.1	37	c.111C>A	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610125	0.96637	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	.	.	.	5.0	4.11	0.48088	.	0.133773	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3837	9.0789	0.36538	0.0:0.8317:0.0:0.1683	.	.	.	.	X	37	.	ENSP00000299272:Y37X	Y	+	3	2	SPIC	100397504	0.997000	0.39634	1.000000	0.80357	0.851000	0.48451	0.966000	0.29331	1.108000	0.41662	0.555000	0.69702	TAC		0.338	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		16	26	1	0	1.67942e-08	1	1.98515e-08	16	26				
PHACTR1	221692	broad.mit.edu	37	6	12933942	12933942	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:12933942G>A	ENST00000379348.2	+	4	505	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCTTGGGCTCGAACTGTGTTC	0.532																																						ENST00000379348.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(328-330)Gaa>Aaa		phosphatase and actin regulator 1							150.0	138.0	142.0					6																	12933942		876	1991	2867	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:12933942G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379348.2:c.328G>A	6.37:g.12933942G>A	ENSP00000368653:p.Glu110Lys					PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron	p.E110K			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		4	505	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	0					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379348.2	37	c.328G>A		.	.	.	.	.	.	.	.	.	.	G	10.50	1.368949	0.24771	.	.	ENSG00000112137	ENST00000379348	T	0.46819	0.86	2.09	0.0359	0.14189	.	.	.	.	.	T	0.12347	0.0300	.	.	.	0.09310	N	1	B	0.31611	0.331	B	0.15484	0.013	T	0.13872	-1.0493	8	0.87932	D	0	.	4.0561	0.09818	0.0:0.3066:0.4405:0.2529	.	110	Q5R356	.	K	110	ENSP00000368653:E110K	ENSP00000368653:E110K	E	+	1	0	PHACTR1	13041928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.233000	0.09041	-0.022000	0.13986	-0.316000	0.08728	GAA		0.532	PHACTR1-010	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039885.1	XM_166420		67	26	0	0	0	1	0	67	26				
SEPT4	5414	broad.mit.edu	37	17	56604289	56604289	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56604289G>A	ENST00000317268.3	-	2	287	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SEPT4_ENST00000457347.2_Silent_p.F52F|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580791.1_5'UTR|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000426861.1_Silent_p.F18F|SEPT4_ENST00000317256.6_Silent_p.F18F|SEPT4_ENST00000412945.3_Silent_p.F29F|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000393086.1_Silent_p.F18F|SEPT4_ENST00000580809.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000583114.1_5'UTR	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	37					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.F37F(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATCCTTCACGAACTTGCTCA	0.617																																						ENST00000426861.1																			1	Substitution - coding silent(1)	p.F37F(1)	stomach(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(52-54)ttC>ttT		septin 4							79.0	86.0	83.0					17																	56604289		2203	4300	6503	SO:0001819	synonymous_variant	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56604289G>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.111C>T	17.37:g.56604289G>A						SEPT4_ENST00000583114.1_5'UTR|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000457347.2_Silent_p.F52F|SEPT4_ENST00000412945.3_Silent_p.F29F|SEPT4_ENST00000393086.1_Silent_p.F18F|SEPT4_ENST00000317256.6_Silent_p.F18F|SEPT4_ENST00000317268.3_Silent_p.F37F	p.F18F	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN			2	140	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		37					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	c.54C>T	CCDS11610.1																																																																																				0.617	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		41	68	0	0	0	1	0	41	68				
ADARB2	105	broad.mit.edu	37	10	1405395	1405395	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:1405395C>T	ENST00000381312.1	-	3	1230	c.905G>A	c.(904-906)cGc>cAc	p.R302H	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	302	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCTCCGCGCGCGCCGCTCGGC	0.761																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(904-906)cGc>cAc		adenosine deaminase, RNA-specific, B2 (non-functional)							4.0	5.0	5.0					10																	1405395		1954	3913	5867	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405395C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.905G>A	10.37:g.1405395C>T	ENSP00000370713:p.Arg302His						p.R302H	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1230	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	302			DRBM 2.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.905G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.387149	0.01194	.	.	ENSG00000185736	ENST00000381312	T	0.72505	-0.66	5.24	1.97	0.26223	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.385778	0.29995	N	0.010667	T	0.22589	0.0545	N	0.00113	-2.09	0.48087	D	0.999586	B	0.10296	0.003	B	0.15484	0.013	T	0.39901	-0.9591	10	0.02654	T	1	-16.5915	5.7148	0.17954	0.0:0.4297:0.0:0.5703	.	302	Q9NS39	RED2_HUMAN	H	302	ENSP00000370713:R302H	ENSP00000370713:R302H	R	-	2	0	ADARB2	1395395	0.848000	0.29623	0.002000	0.10522	0.171000	0.22731	1.888000	0.39708	0.529000	0.28599	0.561000	0.74099	CGC		0.761	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		3	10	0	0	0	1	0	3	10				
ZNF493	284443	broad.mit.edu	37	19	21606093	21606093	+	Missense_Mutation	SNP	G	G	A	rs145782852	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21606093G>A	ENST00000355504.4	+	2	514	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	ZNF493_ENST00000392288.2_Missense_Mutation_p.R211Q|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R83Q(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATTCTTACCGATGTGAAGAA	0.353													.|||	2	0.000399361	0.0	0.0	5008	,	,		18444	0.0		0.0	False		,,,				2504	0.002					ENST00000392288.2																			1	Substitution - Missense(1)	p.R83Q(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(631-633)cGa>cAa		zinc finger protein 493		G	GLN/ARG,GLN/ARG	0,4402		0,0,2201	53.0	59.0	57.0		632,248	-0.5	0.1	19	dbSNP_134	57	7,8587		0,7,4290	no	missense,missense	ZNF493	NM_001076678.2,NM_175910.6	43,43	0,7,6491	AA,AG,GG		0.0815,0.0,0.0539	benign,benign	211/775,83/647	21606093	7,12989	2201	4297	6498	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606093G>A	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.248G>A	19.37:g.21606093G>A	ENSP00000347691:p.Arg83Gln					ZNF493_ENST00000355504.4_Missense_Mutation_p.R83Q|CTD-2561J22.3_ENST00000600810.1_Intron	p.R211Q	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	741	+			83					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.632G>A	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	6.628	0.484340	0.12641	0.0	8.15E-4	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.36878	1.23;1.23	1.05	-0.455	0.12193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10337	0.0253	N	0.01188	-0.97	0.09310	N	1	B;B	0.23891	0.014;0.093	B;B	0.12156	0.007;0.005	T	0.21075	-1.0256	9	0.31617	T	0.26	.	2.6681	0.05058	0.5302:0.2697:0.2:0.0	.	83;211	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Q	211;83	ENSP00000376110:R211Q;ENSP00000347691:R83Q	ENSP00000347691:R83Q	R	+	2	0	ZNF493	21397933	0.012000	0.17670	0.068000	0.19968	0.067000	0.16453	0.061000	0.14366	-0.488000	0.06726	-0.501000	0.04562	CGA		0.353	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		14	34	0	0	0	1	0	14	34				
ANK2	287	broad.mit.edu	37	4	114275979	114275979	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114275979C>T	ENST00000357077.4	+	38	6258	c.6205C>T	c.(6205-6207)Cgt>Tgt	p.R2069C	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2036C|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2069					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAGGAGTTCGTGTTTCCTC	0.468																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(6205-6207)Cgt>Tgt		ankyrin 2, neuronal							82.0	90.0	87.0					4																	114275979		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275979C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6205C>T	4.37:g.114275979C>T	ENSP00000349588:p.Arg2069Cys					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2036C|ANK2_ENST00000506722.1_Intron	p.R2069C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6258	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2036					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6205C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	5.278	0.236669	0.10023	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68765	-0.34;-0.35	5.32	4.45	0.53987	.	0.711627	0.11929	N	0.515913	T	0.72882	0.3516	L	0.60455	1.87	0.09310	N	0.999994	D;D	0.71674	0.996;0.998	P;P	0.53861	0.65;0.736	T	0.62364	-0.6870	9	.	.	.	.	12.3387	0.55081	0.3164:0.6836:0.0:0.0	.	2036;2069	Q01484;Q01484-4	ANK2_HUMAN;.	C	2069;2036	ENSP00000349588:R2069C;ENSP00000264366:R2036C	.	R	+	1	0	ANK2	114495428	0.946000	0.32159	0.016000	0.15963	0.059000	0.15707	3.483000	0.53194	1.296000	0.44742	0.563000	0.77884	CGT		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	169	0	0	0	1	0	9	169				
CNBD1	168975	broad.mit.edu	37	8	88365879	88365879	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:88365879C>A	ENST00000518476.1	+	10	1219	c.1168C>A	c.(1168-1170)Ctt>Att	p.L390I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	390										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATCTCAAAAACTTGTTTATAT	0.318																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(1168-1170)Ctt>Att		cyclic nucleotide binding domain containing 1							63.0	62.0	62.0					8																	88365879		1801	4065	5866	SO:0001583	missense	168975							g.chr8:88365879C>A	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1168C>A	8.37:g.88365879C>A	ENSP00000430073:p.Leu390Ile						p.L390I	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			10	1219	+			390						Missense_Mutation	SNP	ENST00000518476.1	37	c.1168C>A	CCDS55259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.922|9.922	1.212356|1.212356	0.22289|0.22289	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000518476|ENST00000523299;ENST00000521593	T|.	0.18338|.	2.22|.	4.98|4.98	3.09|3.09	0.35607|0.35607	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.557940|.	0.14840|.	N|.	0.295311|.	T|T	0.40839|0.40839	0.1133|0.1133	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	D|.	0.67145|.	0.996|.	D|.	0.67382|.	0.951|.	T|T	0.25152|0.25152	-1.0140|-1.0140	10|5	0.20046|.	T|.	0.44|.	-7.5173|-7.5173	7.1636|7.1636	0.25677|0.25677	0.0:0.7344:0.1705:0.0952|0.0:0.7344:0.1705:0.0952	.|.	390|.	Q8NA66|.	CNBD1_HUMAN|.	I|K	390|81;26	ENSP00000430073:L390I|.	ENSP00000430073:L390I|.	L|N	+|+	1|3	0|2	CNBD1|CNBD1	88434995|88434995	0.484000|0.484000	0.25964|0.25964	0.804000|0.804000	0.32291|0.32291	0.075000|0.075000	0.17131|0.17131	1.067000|1.067000	0.30616|0.30616	1.102000|1.102000	0.41551|0.41551	-0.300000|-0.300000	0.09419|0.09419	CTT|AAC		0.318	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		19	21	1	0	2.4624e-09	1	2.95225e-09	19	21				
LRRC1	55227	broad.mit.edu	37	6	53785453	53785453	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:53785453A>C	ENST00000370888.1	+	13	1587	c.1310A>C	c.(1309-1311)aAc>aCc	p.N437T	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	437						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GCACTGGAGAACTTGGTAAAT	0.463																																						ENST00000370888.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1309-1311)aAc>aCc		leucine rich repeat containing 1							144.0	148.0	147.0					6																	53785453		2073	4219	6292	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53785453A>C	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1310A>C	6.37:g.53785453A>C	ENSP00000359925:p.Asn437Thr					RP3-523E19.2_ENST00000474641.2_RNA	p.N437T	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	13	1587	+	Lung NSC(77;0.0147)		437					Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.1310A>C	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	14.46	2.540684	0.45280	.	.	ENSG00000137269	ENST00000370888	T	0.76578	-1.03	5.92	0.214	0.15249	.	0.201928	0.50627	D	0.000114	T	0.36799	0.0980	N	0.05230	-0.09	0.80722	D	1	B	0.15141	0.012	B	0.15870	0.014	T	0.16247	-1.0409	10	0.56958	D	0.05	.	9.1134	0.36741	0.431:0.0:0.569:0.0	.	437	Q9BTT6	LRRC1_HUMAN	T	437	ENSP00000359925:N437T	ENSP00000359925:N437T	N	+	2	0	LRRC1	53893412	0.998000	0.40836	0.794000	0.32065	0.972000	0.66771	1.554000	0.36266	-0.233000	0.09797	-0.182000	0.12963	AAC		0.463	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		10	46	0	0	0	1	0	10	46				
FOXRED1	55572	broad.mit.edu	37	11	126141541	126141541	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:126141541C>T	ENST00000263578.5	+	2	369	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	SRPR_ENST00000532259.1_5'Flank|FOXRED1_ENST00000442061.2_Intron|SRPR_ENST00000332118.6_5'Flank|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R85W|FOXRED1_ENST00000534011.1_Intron|SRPR_ENST00000530680.1_5'Flank	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	99						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGTGGTGGAACGGGACCACAC	0.547																																						ENST00000263578.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(295-297)Cgg>Tgg		FAD-dependent oxidoreductase domain containing 1							105.0	88.0	94.0					11																	126141541		2201	4298	6499	SO:0001583	missense	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126141541C>T		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.295C>T	11.37:g.126141541C>T	ENSP00000263578:p.Arg99Trp					FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R85W|FOXRED1_ENST00000442061.2_Intron	p.R99W	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	2	369	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	99					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	ENST00000263578.5	37	c.295C>T	CCDS8471.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902278	0.52227	.	.	ENSG00000110074	ENST00000263578;ENST00000532125	D;D	0.87179	-2.22;-2.22	5.4	4.45	0.53987	FAD dependent oxidoreductase (1);	0.333576	0.27294	N	0.020026	D	0.94019	0.8084	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	D	0.94716	0.7896	10	0.87932	D	0	-17.8316	13.2438	0.60012	0.2857:0.7143:0.0:0.0	.	85;99	Q96CU9-3;Q96CU9	.;FXRD1_HUMAN	W	99;85	ENSP00000263578:R99W;ENSP00000434178:R85W	ENSP00000263578:R99W	R	+	1	2	FOXRED1	125646751	0.989000	0.36119	0.990000	0.47175	0.315000	0.28087	2.776000	0.47709	2.538000	0.85594	0.579000	0.79373	CGG		0.547	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		18	46	0	0	0	1	0	18	46				
DCTN4	51164	broad.mit.edu	37	5	150099289	150099289	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150099289G>A	ENST00000447998.2	-	10	1067	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	DCTN4_ENST00000424236.1_Missense_Mutation_p.R261C|DCTN4_ENST00000446090.2_Missense_Mutation_p.R325C	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	318					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGTAGCGAAGGTTGGGA	0.348																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(952-954)Cgc>Tgc		dynactin 4 (p62)							111.0	106.0	107.0					5																	150099289		2203	4300	6503	SO:0001583	missense	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150099289G>A	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.952C>T	5.37:g.150099289G>A	ENSP00000416968:p.Arg318Cys					DCTN4_ENST00000424236.1_Missense_Mutation_p.R261C|DCTN4_ENST00000446090.2_Missense_Mutation_p.R325C	p.R318C	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1067	-		Medulloblastoma(196;0.167)	318					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	ENST00000447998.2	37	c.952C>T	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887910	0.91814	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.23754	1.89;1.89;1.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.764;0.998	T	0.37197	-0.9716	10	0.62326	D	0.03	-11.1489	20.0333	0.97547	0.0:0.0:1.0:0.0	.	325;318	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	C	318;261;325	ENSP00000416968:R318C;ENSP00000411251:R261C;ENSP00000414906:R325C	ENSP00000411251:R261C	R	-	1	0	DCTN4	150079482	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.101000	0.94219	2.810000	0.96702	0.585000	0.79938	CGC		0.348	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			12	19	0	0	0	1	0	12	19				
NTS	4922	broad.mit.edu	37	12	86276047	86276047	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:86276047A>C	ENST00000256010.6	+	4	514	c.407A>C	c.(406-408)aAg>aCg	p.K136T	NTS_ENST00000551529.1_Missense_Mutation_p.K61T	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	136					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						AAAAATGGAAAGGAAGAAGTC	0.318																																						ENST00000256010.6																			0				large_intestine(2)|lung(6)	8						c.(406-408)aAg>aCg		neurotensin							69.0	76.0	74.0					12																	86276047		2201	4294	6495	SO:0001583	missense	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86276047A>C		CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.407A>C	12.37:g.86276047A>C	ENSP00000256010:p.Lys136Thr					NTS_ENST00000551529.1_Missense_Mutation_p.K61T	p.K136T	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN			4	514	+			136						Missense_Mutation	SNP	ENST00000256010.6	37	c.407A>C	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953325	0.73902	.	.	ENSG00000133636	ENST00000551529;ENST00000256010;ENST00000550879	.	.	.	5.84	5.84	0.93424	.	0.100003	0.64402	D	0.000002	T	0.73321	0.3572	M	0.61703	1.905	0.40517	D	0.980798	D	0.58970	0.984	P	0.56960	0.81	T	0.76854	-0.2805	9	0.66056	D	0.02	-25.9069	16.2233	0.82274	1.0:0.0:0.0:0.0	.	136	P30990	NEUT_HUMAN	T	61;136;81	.	ENSP00000256010:K136T	K	+	2	0	NTS	84800178	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.555000	0.73928	2.243000	0.73865	0.482000	0.46254	AAG		0.318	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2			16	35	0	0	0	1	0	16	35				
TLR10	81793	broad.mit.edu	37	4	38775278	38775278	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38775278G>T	ENST00000308973.4	-	4	2539	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TLR10_ENST00000361424.2_Missense_Mutation_p.S645Y|TLR10_ENST00000506111.1_Missense_Mutation_p.S645Y|TLR10_ENST00000508334.1_Missense_Mutation_p.S645Y|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	645	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CACCCACAGAGAATCATGTTC	0.403																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(1933-1935)tCt>tAt		toll-like receptor 10							112.0	108.0	109.0					4																	38775278		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38775278G>T	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1934C>A	4.37:g.38775278G>T	ENSP00000308925:p.Ser645Tyr					TLR10_ENST00000361424.2_Missense_Mutation_p.S645Y|TLR10_ENST00000508334.1_Missense_Mutation_p.S645Y|TLR10_ENST00000506111.1_Missense_Mutation_p.S645Y	p.S645Y	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	2539	-			645			TIR.		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.1934C>A	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867885	0.51588	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.41	5.41	0.78517	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.131175	0.33875	N	0.004480	T	0.32971	0.0847	M	0.79475	2.455	0.42367	D	0.992433	D	0.89917	1.0	D	0.91635	0.999	T	0.06232	-1.0838	10	0.87932	D	0	.	19.2127	0.93763	0.0:0.0:1.0:0.0	.	645	Q9BXR5	TLR10_HUMAN	Y	645	ENSP00000308925:S645Y;ENSP00000421483:S645Y;ENSP00000354459:S645Y;ENSP00000424923:S645Y	ENSP00000308925:S645Y	S	-	2	0	TLR10	38451673	0.956000	0.32656	0.981000	0.43875	0.785000	0.44390	3.287000	0.51732	2.537000	0.85549	0.650000	0.86243	TCT		0.403	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			16	24	1	0	0.000422831	1	0.000449533	16	24				
ST8SIA2	8128	broad.mit.edu	37	15	92981795	92981795	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:92981795A>G	ENST00000268164.3	+	4	740	c.503A>G	c.(502-504)aAc>aGc	p.N168S	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.N147S	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	168					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTCTTGCTGAACAGCGGCTGT	0.602																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(502-504)aAc>aGc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							56.0	49.0	51.0					15																	92981795		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92981795A>G	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.503A>G	15.37:g.92981795A>G	ENSP00000268164:p.Asn168Ser					ST8SIA2_ENST00000539113.1_Missense_Mutation_p.N147S	p.N168S	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		4	740	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		168					Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.503A>G	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775694	0.70107	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.33216	1.42;1.42;1.42	5.03	5.03	0.67393	.	0.181174	0.64402	D	0.000019	T	0.44623	0.1302	M	0.80332	2.49	0.50039	D	0.99984	B;B	0.34241	0.444;0.277	P;B	0.44696	0.458;0.392	T	0.46176	-0.9210	10	0.51188	T	0.08	-37.8272	9.6554	0.39923	0.9109:0.0:0.0891:0.0	.	147;168	C6G488;Q92186	.;SIA8B_HUMAN	S	168;147;125	ENSP00000268164:N168S;ENSP00000437382:N147S;ENSP00000450851:N125S	ENSP00000268164:N168S	N	+	2	0	ST8SIA2	90782799	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.709000	0.68384	1.890000	0.54733	0.460000	0.39030	AAC		0.602	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		5	77	0	0	0	1	0	5	77				
ITGAV	3685	broad.mit.edu	37	2	187516777	187516777	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:187516777A>C	ENST00000261023.3	+	15	1740	c.1466A>C	c.(1465-1467)aAa>aCa	p.K489T	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.K453T|ITGAV_ENST00000433736.2_Missense_Mutation_p.K443T	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	489					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CAAGACAATAAAACCTGCTCA	0.388																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1465-1467)aAa>aCa		integrin, alpha V							67.0	70.0	69.0					2																	187516777		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187516777A>C		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1466A>C	2.37:g.187516777A>C	ENSP00000261023:p.Lys489Thr					AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.K443T|ITGAV_ENST00000374907.3_Missense_Mutation_p.K453T	p.K489T	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	15	1740	+			489					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.1466A>C	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219108	0.58560	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.53640	0.61;0.61;0.61	5.32	5.32	0.75619	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.83118	2.625	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.69142	0.925;0.962;0.956	T	0.76091	-0.3086	10	0.87932	D	0	.	15.5929	0.76550	1.0:0.0:0.0:0.0	.	443;453;489	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	T	489;453;443	ENSP00000261023:K489T;ENSP00000364042:K453T;ENSP00000404291:K443T	ENSP00000261023:K489T	K	+	2	0	ITGAV	187225022	1.000000	0.71417	0.953000	0.39169	0.745000	0.42441	7.702000	0.84576	2.129000	0.65627	0.533000	0.62120	AAA		0.388	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		4	11	0	0	0	1	0	4	11				
METAP2	10988	broad.mit.edu	37	12	95868101	95868101	+	Missense_Mutation	SNP	C	C	A	rs199968706		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95868101C>A	ENST00000323666.5	+	1	375	c.146C>A	c.(145-147)tCt>tAt	p.S49Y	METAP2_ENST00000551840.1_Missense_Mutation_p.S49Y|METAP2_ENST00000261220.9_Missense_Mutation_p.S49Y|METAP2_ENST00000550777.1_Missense_Mutation_p.S49Y|METAP2_ENST00000546753.1_Missense_Mutation_p.S49Y	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AAAGGGCCTTCTGCAGGTAAA	0.577																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(145-147)tCt>tAt		methionyl aminopeptidase 2	L-Methionine(DB00134)						69.0	83.0	78.0					12																	95868101		2203	4300	6503	SO:0001583	missense	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95868101C>A	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.146C>A	12.37:g.95868101C>A	ENSP00000325312:p.Ser49Tyr					METAP2_ENST00000261220.9_Missense_Mutation_p.S49Y|METAP2_ENST00000546753.1_Missense_Mutation_p.S49Y|METAP2_ENST00000551840.1_Missense_Mutation_p.S49Y|METAP2_ENST00000550777.1_Missense_Mutation_p.S49Y	p.S49Y	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			1	375	+			49						Missense_Mutation	SNP	ENST00000323666.5	37	c.146C>A	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731901	0.30684	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000549502;ENST00000553151;ENST00000550777;ENST00000551840	.	.	.	5.05	-0.296	0.12824	.	1.198310	0.05906	N	0.630787	T	0.20007	0.0481	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.25955	0.085;0.138;0.071;0.115;0.042	B;B;B;B;B	0.24701	0.039;0.03;0.055;0.046;0.025	T	0.30794	-0.9966	9	0.72032	D	0.01	-1.6111	6.6715	0.23070	0.0:0.4096:0.4358:0.1546	.	49;49;49;49;49	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	Y	49	.	ENSP00000261220:S49Y	S	+	2	0	METAP2	94392232	0.004000	0.15560	0.163000	0.22734	0.755000	0.42902	-0.147000	0.10234	-0.274000	0.09232	-0.264000	0.10439	TCT		0.577	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		31	61	1	0	2.85442e-18	1	3.86477e-18	31	61				
SNAPC2	6618	broad.mit.edu	37	19	7987561	7987561	+	Missense_Mutation	SNP	C	C	T	rs537522374		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7987561C>T	ENST00000221573.6	+	5	968	c.917C>T	c.(916-918)tCg>tTg	p.S306L	SNAPC2_ENST00000597584.1_Missense_Mutation_p.S69L	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	306					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GAACTGAAATCGCCTTGGCAA	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15815	0.0		0.0	False		,,,				2504	0.0					ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(916-918)tCg>tTg		small nuclear RNA activating complex, polypeptide 2, 45kDa							87.0	111.0	103.0					19																	7987561		2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987561C>T	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.917C>T	19.37:g.7987561C>T	ENSP00000221573:p.Ser306Leu					SNAPC2_ENST00000597584.1_Missense_Mutation_p.S69L	p.S306L	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			5	968	+			306					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.917C>T	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	C	4.979	0.181895	0.09495	.	.	ENSG00000104976	ENST00000221573	T	0.44083	0.93	4.27	1.94	0.25998	.	0.940552	0.08820	N	0.888918	T	0.24967	0.0606	N	0.22421	0.69	0.09310	N	1	B	0.22683	0.073	B	0.15484	0.013	T	0.18524	-1.0334	10	0.29301	T	0.29	-6.3181	4.0733	0.09892	0.2318:0.6431:0.0:0.1252	.	306	Q13487	SNPC2_HUMAN	L	306	ENSP00000221573:S306L	ENSP00000221573:S306L	S	+	2	0	SNAPC2	7893561	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	0.823000	0.27366	1.113000	0.41760	0.455000	0.32223	TCG		0.682	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		45	79	0	0	0	1	0	45	79				
PPP2R3A	5523	broad.mit.edu	37	3	135722020	135722020	+	Silent	SNP	C	C	A	rs144470120		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:135722020C>A	ENST00000264977.3	+	2	2297	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	560					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCTAAAGTCTCTTCACCCA	0.408																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1678-1680)gtC>gtA		protein phosphatase 2, regulatory subunit B'', alpha							58.0	58.0	58.0					3																	135722020		2203	4299	6502	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135722020C>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1680C>A	3.37:g.135722020C>A						PPP2R3A_ENST00000490467.1_Intron	p.V560V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2297	+			560					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.1680C>A	CCDS3087.1																																																																																				0.408	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		21	40	1	0	1.96292e-10	1	2.40731e-10	21	40				
TNIP3	79931	broad.mit.edu	37	4	122053790	122053790	+	Missense_Mutation	SNP	G	G	A	rs142456270	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122053790G>A	ENST00000057513.3	-	11	1188	c.974C>T	c.(973-975)cCg>cTg	p.P325L	TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000454328.1_Missense_Mutation_p.P325L|TNIP3_ENST00000509841.1_3'UTR|TNIP3_ENST00000507879.1_3'UTR	NM_024873.5	NP_079149.3			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTACTTCTACGGATGGACTTT	0.408													T|||	2	0.000399361	0.0015	0.0	5008	,	,		18500	0.0		0.0	False		,,,				2504	0.0					ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(973-975)cCg>cTg		TNFAIP3 interacting protein 3							145.0	129.0	134.0					4																	122053790		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122053790G>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000057513.3:c.974C>T	4.37:g.122053790G>A	ENSP00000057513:p.Pro325Leu					TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_3'UTR|TNIP3_ENST00000057513.3_Missense_Mutation_p.P325L|TNIP3_ENST00000509841.1_3'UTR	p.P325L			Q96KP6	TNIP3_HUMAN			13	1201	-			325						Missense_Mutation	SNP	ENST00000057513.3	37	c.974C>T	CCDS3718.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	14.59	2.579446	0.46006	.	.	ENSG00000050730	ENST00000057513;ENST00000454328	T;T	0.46063	0.88;0.88	4.99	-3.19	0.05171	.	0.753921	0.10908	N	0.620919	T	0.20088	0.0483	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.15983	-1.0418	10	0.87932	D	0	.	7.7197	0.28725	0.2465:0.0:0.4798:0.2737	.	325	Q96KP6	TNIP3_HUMAN	L	325	ENSP00000057513:P325L;ENSP00000411817:P325L	ENSP00000057513:P325L	P	-	2	0	TNIP3	122273240	0.000000	0.05858	0.035000	0.18076	0.054000	0.15201	-0.535000	0.06142	-0.906000	0.03866	-1.418000	0.01112	CCG		0.408	TNIP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256527.2	NM_024873		3	27	0	0	0	1	0	3	27				
SAMD9L	219285	broad.mit.edu	37	7	92764273	92764273	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92764273T>G	ENST00000318238.4	-	5	2228	c.1012A>C	c.(1012-1014)Aat>Cat	p.N338H	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N338H|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N338H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	338					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTGAAAGATTTTGGTTTTGT	0.323																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1012-1014)Aat>Cat		sterile alpha motif domain containing 9-like							95.0	102.0	100.0					7																	92764273		2202	4300	6502	SO:0001583	missense	219285							g.chr7:92764273T>G	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1012A>C	7.37:g.92764273T>G	ENSP00000326247:p.Asn338His					SAMD9L_ENST00000411955.1_Missense_Mutation_p.N338H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N338H	p.N338H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2228	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		338					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1012A>C	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	0.696	-0.792485	0.02884	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.12672	2.66;2.66;2.66	4.74	-0.258	0.12975	.	0.572500	0.14789	N	0.298328	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	1	P	0.36249	0.545	P	0.45138	0.471	T	0.30475	-0.9977	10	0.54805	T	0.06	-0.8597	8.3797	0.32463	0.0:0.5528:0.0:0.4472	.	338	Q8IVG5	SAM9L_HUMAN	H	338	ENSP00000326247:N338H;ENSP00000405760:N338H;ENSP00000408796:N338H	ENSP00000326247:N338H	N	-	1	0	SAMD9L	92602209	0.001000	0.12720	0.006000	0.13384	0.044000	0.14063	-0.105000	0.10907	-0.253000	0.09514	-0.467000	0.05162	AAT		0.323	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		15	88	0	0	0	1	0	15	88				
ITGA2	3673	broad.mit.edu	37	5	52347299	52347299	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52347299A>C	ENST00000296585.5	+	7	832	c.689A>C	c.(688-690)aAa>aCa	p.K230T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	230	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AACACATATAAAACCAAAGAA	0.378																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(688-690)aAa>aCa		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							112.0	107.0	109.0					5																	52347299		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52347299A>C		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.689A>C	5.37:g.52347299A>C	ENSP00000296585:p.Lys230Thr						p.K230T	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			7	832	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	230			VWFA.		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.689A>C	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	A	4.009	-0.000911	0.07819	.	.	ENSG00000164171	ENST00000296585	D	0.83419	-1.72	5.77	3.38	0.38709	von Willebrand factor, type A (3);	0.294020	0.36740	N	0.002423	T	0.67748	0.2926	N	0.21097	0.63	0.23859	N	0.996646	B;B	0.22909	0.001;0.077	B;B	0.19391	0.003;0.025	T	0.53380	-0.8447	10	0.30078	T	0.28	.	5.5477	0.17073	0.5271:0.2729:0.2:0.0	.	230;230	E7ESP4;P17301	.;ITA2_HUMAN	T	230	ENSP00000296585:K230T	ENSP00000296585:K230T	K	+	2	0	ITGA2	52383056	0.884000	0.30299	0.548000	0.28192	0.242000	0.25591	1.006000	0.29847	0.444000	0.26612	-1.407000	0.01130	AAA		0.378	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		17	30	0	0	0	1	0	17	30				
THSD1	55901	broad.mit.edu	37	13	52976790	52976790	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52976790G>T	ENST00000258613.4	-	0	124				THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_De_novo_Start_OutOfFrame|RNY4P24_ENST00000362735.1_RNA	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1						hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCACGTCCAGATTGTGATTT	0.343																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30								thrombospondin, type I, domain containing 1							95.0	77.0	82.0					13																	52976790		692	1591	2283			55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52976790G>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.-55C>A	13.37:g.52976790G>T						THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_De_novo_Start_OutOfFrame		NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	0	490	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)						A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Translation_Start_Site	SNP	ENST00000258613.4	37		CCDS9432.1																																																																																				0.343	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			10	15	1	0	9.70103e-10	1	1.17791e-09	10	15				
CCDC144A	9720	broad.mit.edu	37	17	16612833	16612833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:16612833G>T	ENST00000360524.8	+	5	1538	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E487*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E488*|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000443444.2_Nonsense_Mutation_p.E488*|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E488*|CCDC144A_ENST00000456009.1_Intron	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	488																	CAGAACATCAGAAGTATATCT	0.353																																						ENST00000443444.2																			0											c.(1462-1464)Gaa>Taa		coiled-coil domain containing 144A							29.0	29.0	29.0					17																	16612833		1775	4021	5796	SO:0001587	stop_gained	9720							g.chr17:16612833G>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1462G>T	17.37:g.16612833G>T	ENSP00000353717:p.Glu488*					CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E488*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E487*|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E488*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E488*	p.E488*			A2RUR9	C144A_HUMAN			5	1602	+			488					O60311|Q6ZU57	Nonsense_Mutation	SNP	ENST00000360524.8	37	c.1462G>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.247478	0.80024	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	.	.	.	1.26	-2.52	0.06346	.	.	.	.	.	.	.	.	.	.	.	0.22903	N	0.998585	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	5.3548	0.16055	0.6646:0.0:0.3354:0.0	.	.	.	.	X	289;487;488;488;488;488;488	.	ENSP00000344740:E487X	E	+	1	0	CCDC144A	16553558	0.196000	0.23350	0.383000	0.26132	0.315000	0.28087	0.441000	0.21611	-0.797000	0.04450	0.175000	0.17021	GAA		0.353	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			20	47	1	0	1.00905e-13	1	1.29777e-13	20	47				
ATP1A2	477	broad.mit.edu	37	1	160106452	160106452	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160106452G>A	ENST00000361216.3	+	19	2745	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	ATP1A2_ENST00000392233.3_Missense_Mutation_p.D886N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	886					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AATCCGCCTCGACTGGGATGA	0.557																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2656-2658)Gac>Aac		ATPase, Na+/K+ transporting, alpha 2 polypeptide							98.0	88.0	91.0					1																	160106452		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160106452G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2656G>A	1.37:g.160106452G>A	ENSP00000354490:p.Asp886Asn					ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.D886N	p.D886N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		19	2745	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		886					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2656G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	7.773	0.707776	0.15239	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.88201	-2.35;-2.35	4.71	4.71	0.59529	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.236191	0.39985	N	0.001220	T	0.68952	0.3057	N	0.16266	0.395	0.39935	D	0.974338	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.65051	-0.6262	10	0.11794	T	0.64	.	15.5314	0.75964	0.0:0.0:1.0:0.0	.	786;886	F5GXJ7;P50993	.;AT1A2_HUMAN	N	886;886;589	ENSP00000354490:D886N;ENSP00000376066:D886N	ENSP00000354490:D886N	D	+	1	0	ATP1A2	158373076	0.028000	0.19301	0.956000	0.39512	0.994000	0.84299	1.117000	0.31234	2.590000	0.87494	0.561000	0.74099	GAC		0.557	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		43	69	0	0	0	1	0	43	69				
AMER3	205147	broad.mit.edu	37	2	131521461	131521461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:131521461C>T	ENST00000423981.1	+	2	1926	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.R606*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	606					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GGAAGAGACACGAGGTCACTC	0.587																																						ENST00000423981.1																			0											c.(1816-1818)Cga>Tga		APC membrane recruitment protein 3							70.0	75.0	73.0					2																	131521461		2203	4300	6503	SO:0001587	stop_gained	205147							g.chr2:131521461C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1816C>T	2.37:g.131521461C>T	ENSP00000392700:p.Arg606*					AMER3_ENST00000321420.4_Nonsense_Mutation_p.R606*	p.R606*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1926	+								B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	c.1816C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	37	6.293250	0.97449	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	3.13	3.13	0.36017	.	1.295740	0.06140	U	0.672159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	9.9852	0.41837	0.0:1.0:0.0:0.0	.	.	.	.	X	606	.	ENSP00000314914:R606X	R	+	1	2	FAM123C	131237931	0.000000	0.05858	0.403000	0.26384	0.052000	0.14988	0.375000	0.20518	2.059000	0.61396	0.561000	0.74099	CGA		0.587	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		39	61	0	0	0	1	0	39	61				
LOC100130331	100130331	broad.mit.edu	37	1	238090414	238090414	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:238090414C>T	ENST00000450451.1	+	0	1920					NR_027247.2																						ATGAGCTGTGCGTGGCCCTGG	0.562																																						ENST00000450451.1																			0																																																			0							g.chr1:238090414C>T																													1.37:g.238090414C>T								NR_027247.2						0	1920	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.562	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			21	44	0	0	0	1	0	21	44				
PLD5	200150	broad.mit.edu	37	1	242264056	242264056	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:242264056G>T	ENST00000536534.2	-	9	1509	c.1268C>A	c.(1267-1269)gCt>gAt	p.A423D	PLD5_ENST00000442594.2_Missense_Mutation_p.A331D|PLD5_ENST00000427495.1_Missense_Mutation_p.A361D			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	423						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGTAGCACAAGCATTCTCTCT	0.393																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(991-993)gCt>gAt		phospholipase D family, member 5							166.0	147.0	153.0					1																	242264056		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242264056G>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1268C>A	1.37:g.242264056G>T	ENSP00000440896:p.Ala423Asp					PLD5_ENST00000427495.1_Missense_Mutation_p.A361D|PLD5_ENST00000536534.1_Missense_Mutation_p.A423D	p.A331D	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		10	1501	-	Melanoma(84;0.242)		423					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.992C>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014467	0.75161	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.23147	1.92;1.92;1.92	5.75	4.81	0.61882	.	0.180481	0.39146	N	0.001441	T	0.22322	0.0538	L	0.44542	1.39	0.33947	D	0.643924	P;P;P	0.40476	0.571;0.718;0.571	B;B;B	0.41332	0.354;0.216;0.354	T	0.20042	-1.0287	10	0.11794	T	0.64	-7.5309	11.9465	0.52930	0.084:0.0:0.916:0.0	.	331;423;361	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	D	361;331;423	ENSP00000401285:A361D;ENSP00000414188:A331D;ENSP00000440896:A423D	ENSP00000401285:A361D	A	-	2	0	PLD5	240330679	0.875000	0.30112	1.000000	0.80357	0.998000	0.95712	1.281000	0.33214	1.374000	0.46228	0.650000	0.86243	GCT		0.393	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		25	39	1	0	1.66031e-10	1	2.0393e-10	25	39				
MICAL2	9645	broad.mit.edu	37	11	12243276	12243276	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:12243276G>A	ENST00000256194.4	+	10	1580	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	MICAL2_ENST00000342902.5_Missense_Mutation_p.G431D|MICAL2_ENST00000537344.1_Missense_Mutation_p.G431D|MICAL2_ENST00000527546.1_Missense_Mutation_p.G431D|MICAL2_ENST00000379612.3_Missense_Mutation_p.G431D	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	431	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGAACCAGGGCACCCCTCCC	0.602																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1291-1293)gGc>gAc		microtubule associated monooxygenase, calponin and LIM domain containing 2							88.0	80.0	83.0					11																	12243276		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12243276G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1292G>A	11.37:g.12243276G>A	ENSP00000256194:p.Gly431Asp					MICAL2_ENST00000527546.1_Missense_Mutation_p.G431D|MICAL2_ENST00000379612.3_Missense_Mutation_p.G431D|MICAL2_ENST00000342902.5_Missense_Mutation_p.G431D|MICAL2_ENST00000537344.1_Missense_Mutation_p.G431D	p.G431D	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	10	1580	+			431					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1292G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045816	0.75846	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.93	4.93	0.64822	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.78110	0.4232	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.986;0.999;0.996	T	0.79391	-0.1823	10	0.56958	D	0.05	.	17.9297	0.88993	0.0:0.0:1.0:0.0	.	431;431;431;431;431	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	D	431	ENSP00000441689:G431D;ENSP00000256194:G431D;ENSP00000433965:G431D;ENSP00000344894:G431D;ENSP00000368932:G431D	ENSP00000256194:G431D	G	+	2	0	MICAL2	12199852	1.000000	0.71417	0.955000	0.39395	0.451000	0.32288	5.475000	0.66787	2.555000	0.86185	0.655000	0.94253	GGC		0.602	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		7	87	0	0	0	1	0	7	87				
IL23R	149233	broad.mit.edu	37	1	67724382	67724382	+	Silent	SNP	A	A	G	rs139858085		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67724382A>G	ENST00000347310.5	+	11	1632	c.1461A>G	c.(1459-1461)caA>caG	p.Q487Q	IL23R_ENST00000395227.1_Silent_p.Q232Q|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	487					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATAAACCCCAAATTTCAAATT	0.388																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1459-1461)caA>caG		interleukin 23 receptor							65.0	67.0	67.0					1																	67724382		2203	4300	6503	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724382A>G	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1461A>G	1.37:g.67724382A>G						IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.Q232Q	p.Q487Q	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			11	1632	+			487					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.1461A>G	CCDS637.1	.	.	.	.	.	.	.	.	.	.	A	2.012	-0.426948	0.04701	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.71	1.78	0.24846	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23332	-1.0191	4	.	.	.	-22.2877	6.7678	0.23576	0.3786:0.0:0.6214:0.0	.	.	.	.	R	249	.	.	K	+	2	0	IL23R	67496970	1.000000	0.71417	0.980000	0.43619	0.244000	0.25665	1.200000	0.32247	0.342000	0.23796	-0.248000	0.11899	AAA		0.388	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		21	50	0	0	0	1	0	21	50				
RYR3	6263	broad.mit.edu	37	15	34049726	34049726	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34049726C>A	ENST00000389232.4	+	60	8704	c.8634C>A	c.(8632-8634)ttC>ttA	p.F2878L	RYR3_ENST00000415757.3_Missense_Mutation_p.F2878L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2878					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCTCTACTTCTTGTCATCCC	0.498																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8632-8634)ttC>ttA		ryanodine receptor 3							92.0	86.0	88.0					15																	34049726		1942	4147	6089	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34049726C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8634C>A	15.37:g.34049726C>A	ENSP00000373884:p.Phe2878Leu					RYR3_ENST00000415757.3_Missense_Mutation_p.F2878L	p.F2878L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	60	8704	+		all_lung(180;7.18e-09)	2878					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8634C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105488	0.77096	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98512	-4.97;-4.95	5.41	2.51	0.30379	.	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	M	0.76170	2.325	0.48632	D	0.999686	D;D	0.76494	0.979;0.999	P;D	0.70716	0.725;0.97	D	0.98091	1.0409	10	0.87932	D	0	.	8.6268	0.33895	0.0:0.6438:0.0:0.3562	.	2878;2878	Q15413-2;Q15413	.;RYR3_HUMAN	L	2878	ENSP00000373884:F2878L;ENSP00000399610:F2878L	ENSP00000354735:F2878L	F	+	3	2	RYR3	31837018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.600000	0.36762	0.873000	0.35799	0.655000	0.94253	TTC		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	13	1	0	0.0293803	1	0.0299069	7	13				
SLC25A6	293	broad.mit.edu	37	X	1506218	1506218	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1506218G>A	ENST00000381401.5	-	3	1407	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	231					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GCACCGTGTCGAAGGGGTAGG	0.682																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(691-693)ttC>ttT		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)	A		1,4405		0,1,2202	103.0	95.0	98.0		693	-2.9	0.8	X	dbSNP_134	98	4,8586		0,4,4291	no	coding-synonymous	SLC25A6	NM_001636.3		0,5,6493	AA,AG,GG		0.0466,0.0227,0.0385		231/299	1506218	5,12991	2203	4295	6498	SO:0001819	synonymous_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1506218G>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.693C>T	X.37:g.1506218G>A						SLC25A6_ENST00000475167.1_5'UTR	p.F231F	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			3	1407	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	231					Q96C49	Silent	SNP	ENST00000381401.5	37	c.693C>T	CCDS14114.1																																																																																				0.682	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		28	76	0	0	0	1	0	28	76				
MALAT1	378938	broad.mit.edu	37	11	65265596	65265596	+	lincRNA	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:65265596A>C	ENST00000534336.1	+	0	364				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AAACCCCTAAAAAAGCAGACC	0.473																																						ENST00000534336.1																			0																				64.0	67.0	66.0					11																	65265596		874	1988	2862			0							g.chr11:65265596A>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65265596A>C						AP000769.7_ENST00000602344.1_lincRNA		NR_002819.2						0	364	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.473	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		21	33	0	0	0	1	0	21	33				
PTPN13	5783	broad.mit.edu	37	4	87622929	87622929	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87622929T>C	ENST00000411767.2	+	7	1233	c.1170T>C	c.(1168-1170)gtT>gtC	p.V390V	PTPN13_ENST00000316707.6_Silent_p.V390V|PTPN13_ENST00000427191.2_Silent_p.V390V|PTPN13_ENST00000511467.1_Silent_p.V390V|PTPN13_ENST00000436978.1_Silent_p.V390V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	390					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AACTTCAGGTTCTGAGGGAAG	0.358																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1168-1170)gtT>gtC		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							42.0	40.0	41.0					4																	87622929		1842	4090	5932	SO:0001819	synonymous_variant	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87622929T>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1170T>C	4.37:g.87622929T>C						PTPN13_ENST00000411767.2_Silent_p.V390V|PTPN13_ENST00000427191.2_Silent_p.V390V|PTPN13_ENST00000511467.1_Silent_p.V390V|PTPN13_ENST00000316707.6_Silent_p.V390V	p.V390V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1650	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	390					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.1170T>C	CCDS47094.1																																																																																				0.358	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			17	41	0	0	0	1	0	17	41				
SLCO2B1	11309	broad.mit.edu	37	11	74880412	74880412	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:74880412G>A	ENST00000289575.5	+	5	1038	c.643G>A	c.(643-645)Gat>Aat	p.D215N	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D99N|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D193N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D71N	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	215				D -> V (in Ref. 2; AAG42205). {ECO:0000305}.	liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CTCCTACATCGATGACTTTGC	0.597																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(643-645)Gat>Aat		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						91.0	87.0	89.0					11																	74880412		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74880412G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.643G>A	11.37:g.74880412G>A	ENSP00000289575:p.Asp215Asn					SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D99N|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D193N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D71N|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron	p.D215N	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			5	1038	+			215	D -> V (in Ref. 6).				A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.643G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267342	0.95399	.	.	ENSG00000137491	ENST00000289575;ENST00000532236;ENST00000525650;ENST00000428359;ENST00000526839	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.81226	0.4778	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.85939	0.1457	10	0.87932	D	0	.	15.4645	0.75387	0.0:0.0:1.0:0.0	.	71;215	E9PPU8;O94956	.;SO2B1_HUMAN	N	215;99;71;193;91	ENSP00000289575:D215N;ENSP00000434112:D99N;ENSP00000436324:D71N;ENSP00000388912:D193N;ENSP00000434742:D91N	ENSP00000289575:D215N	D	+	1	0	SLCO2B1	74558060	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	9.008000	0.93601	2.512000	0.84698	0.650000	0.86243	GAT		0.597	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		20	44	0	0	0	1	0	20	44				
OR8A1	390275	broad.mit.edu	37	11	124440834	124440834	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124440834C>T	ENST00000284287.3	+	1	942	c.870C>T	c.(868-870)gcC>gcT	p.A290A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	290					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AGAATGTGGCCTCTGTGTTCT	0.502																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(868-870)gcC>gcT		olfactory receptor, family 8, subfamily A, member 1							85.0	74.0	78.0					11																	124440834		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440834C>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.870C>T	11.37:g.124440834C>T							p.A290A	NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	942	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	290					Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.870C>T	CCDS31712.1																																																																																				0.502	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		25	58	0	0	0	1	0	25	58				
LRBA	987	broad.mit.edu	37	4	151774084	151774084	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151774084T>G	ENST00000357115.3	-	23	3021	c.2778A>C	c.(2776-2778)gaA>gaC	p.E926D	LRBA_ENST00000507224.1_Missense_Mutation_p.E926D|LRBA_ENST00000535741.1_Missense_Mutation_p.E926D|LRBA_ENST00000510413.1_Missense_Mutation_p.E926D	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	926						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTTGTGTATTTCAAAAGTGA	0.313																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2776-2778)gaA>gaC		LPS-responsive vesicle trafficking, beach and anchor containing							85.0	84.0	85.0					4																	151774084		2203	4299	6502	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151774084T>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2778A>C	4.37:g.151774084T>G	ENSP00000349629:p.Glu926Asp					LRBA_ENST00000510413.1_Missense_Mutation_p.E926D|LRBA_ENST00000507224.1_Missense_Mutation_p.E926D|LRBA_ENST00000357115.3_Missense_Mutation_p.E926D	p.E926D			P50851	LRBA_HUMAN			23	3251	-	all_hematologic(180;0.151)		926					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.2778A>C	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023477	0.75390	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	M	0.78049	2.395	0.53688	D	0.999977	D;D	0.71674	0.996;0.998	D;D	0.77557	0.989;0.99	T	0.81820	-0.0757	10	0.62326	D	0.03	.	16.1611	0.81712	0.0:0.0:0.0:1.0	.	926;926	P50851;P50851-2	LRBA_HUMAN;.	D	926	ENSP00000446299:E926D;ENSP00000421552:E926D;ENSP00000349629:E926D;ENSP00000422180:E926D	ENSP00000349629:E926D	E	-	3	2	LRBA	151993534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.281000	0.58965	2.272000	0.75746	0.460000	0.39030	GAA		0.313	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			8	11	0	0	0	1	0	8	11				
RGAG1	57529	broad.mit.edu	37	X	109694334	109694334	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109694334G>A	ENST00000465301.2	+	3	735	c.489G>A	c.(487-489)gaG>gaA	p.E163E	RGAG1_ENST00000540313.1_Silent_p.E163E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	163										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATTCTGCAGAGATATCACCAT	0.478																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(487-489)gaG>gaA		retrotransposon gag domain containing 1							112.0	92.0	99.0					X																	109694334		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694334G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.489G>A	X.37:g.109694334G>A						RGAG1_ENST00000540313.1_Silent_p.E163E	p.E163E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	735	+			163					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.489G>A	CCDS14552.1																																																																																				0.478	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		9	87	0	0	0	1	0	9	87				
ZNF536	9745	broad.mit.edu	37	19	30934829	30934829	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:30934829C>T	ENST00000355537.3	+	2	507	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	120					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAGCGACATCGAGGACGACG	0.637																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(358-360)atC>atT		zinc finger protein 536							64.0	51.0	55.0					19																	30934829		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934829C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.360C>T	19.37:g.30934829C>T							p.I120I	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	507	+	Esophageal squamous(110;0.0834)		120					A2RU18	Silent	SNP	ENST00000355537.3	37	c.360C>T	CCDS32984.1																																																																																				0.637	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		19	39	0	0	0	1	0	19	39				
CACNA1E	777	broad.mit.edu	37	1	181702655	181702655	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181702655C>A	ENST00000367573.2	+	21	3031	c.3031C>A	c.(3031-3033)Cct>Act	p.P1011T	CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1011T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.P992T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P618T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P962T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P992T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P943T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1011					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGCCCCATCCTGAGCTGGA	0.627																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2974-2976)Cct>Act		calcium channel, voltage-dependent, R type, alpha 1E subunit							47.0	54.0	52.0					1																	181702655		2136	4251	6387	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702655C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3031C>A	1.37:g.181702655C>A	ENSP00000356545:p.Pro1011Thr					CACNA1E_ENST00000358338.5_Missense_Mutation_p.P943T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1011T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1011T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P992T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P962T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P618T	p.P992T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			20	3139	+			1011					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2974C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	7.445	0.641552	0.14451	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95949	-3.79;-3.8;-3.8;-3.8;-3.86;-3.81;-3.8	4.19	2.2	0.27929	.	2.946300	0.00698	N	0.000776	D	0.89719	0.6796	N	0.08118	0	0.09310	N	1	B;B;B	0.17038	0.02;0.0;0.001	B;B;B	0.18561	0.022;0.0;0.015	T	0.79050	-0.1962	10	0.14252	T	0.57	.	11.2696	0.49131	0.0:0.6419:0.3581:0.0	.	992;1011;1011	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	T	1011;992;962;943;618;992;1011	ENSP00000356542:P1011T;ENSP00000434814:P992T;ENSP00000350183:P962T;ENSP00000351101:P943T;ENSP00000356539:P618T;ENSP00000353222:P992T;ENSP00000356545:P1011T	ENSP00000350183:P962T	P	+	1	0	CACNA1E	179969278	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.007000	0.12810	0.359000	0.24239	-0.502000	0.04539	CCT		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		12	25	1	0	5.50884e-06	1	6.10489e-06	12	25				
PIKFYVE	200576	broad.mit.edu	37	2	209182661	209182661	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:209182661A>C	ENST00000264380.4	+	16	2236	c.2078A>C	c.(2077-2079)aAa>aCa	p.K693T		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	693					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATTGCACATAAAAAGGTAATG	0.378																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2077-2079)aAa>aCa		phosphoinositide kinase, FYVE finger containing							165.0	155.0	159.0					2																	209182661		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209182661A>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2078A>C	2.37:g.209182661A>C	ENSP00000264380:p.Lys693Thr						p.K693T	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			16	2236	+			693					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2078A>C	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842609	0.91197	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.77750	-1.12;-1.12	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.992	D	0.91760	0.5419	10	0.87932	D	0	-21.0811	16.3158	0.82923	1.0:0.0:0.0:0.0	.	693;637	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	T	693;269;637	ENSP00000264380:K693T;ENSP00000405736:K637T	ENSP00000264380:K693T	K	+	2	0	PIKFYVE	208890906	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.940000	0.92958	2.254000	0.74563	0.533000	0.62120	AAA		0.378	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		21	36	0	0	0	1	0	21	36				
CAPN9	10753	broad.mit.edu	37	1	230891101	230891101	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230891101G>T	ENST00000271971.2	+	2	345	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	CAPN9_ENST00000366666.2_Intron|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Nonsense_Mutation_p.E78*	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	78	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GAAAAACCCAGAATTCATTCT	0.537																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(232-234)Gaa>Taa		calpain 9							78.0	76.0	77.0					1																	230891101		2203	4300	6503	SO:0001587	stop_gained	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230891101G>T	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.232G>T	1.37:g.230891101G>T	ENSP00000271971:p.Glu78*					CAPN9_ENST00000366666.2_Intron|CAPN9_ENST00000271971.2_Nonsense_Mutation_p.E78*|RP11-99J16__A.2_ENST00000412344.1_RNA	p.E78*	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			2	314	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	78			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Nonsense_Mutation	SNP	ENST00000271971.2	37	c.232G>T	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	37	6.316069	0.97467	.	.	ENSG00000135773	ENST00000271971;ENST00000354537	.	.	.	5.07	5.07	0.68467	.	0.257566	0.44285	D	0.000462	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	8.5385	0.33377	0.0894:0.1575:0.7531:0.0	.	.	.	.	X	78	.	ENSP00000271971:E78X	E	+	1	0	CAPN9	228957724	0.971000	0.33674	1.000000	0.80357	0.975000	0.68041	1.050000	0.30404	2.352000	0.79861	0.655000	0.94253	GAA		0.537	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		15	43	1	0	1.5739e-10	1	1.93697e-10	15	43				
ZNF404	342908	broad.mit.edu	37	19	44377739	44377739	+	Silent	SNP	A	A	G	rs373038530	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44377739A>G	ENST00000587539.1	-	3	626	c.627T>C	c.(625-627)caT>caC	p.H209H	ZNF404_ENST00000324394.6_Silent_p.H207H	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCATACCAGTATGAATTATCT	0.388													A|||	2	0.000399361	0.0	0.0014	5008	,	,		20385	0.0		0.001	False		,,,				2504	0.0					ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(625-627)caT>caC		zinc finger protein 404		A		0,4226		0,0,2113	92.0	97.0	95.0		627	1.7	1.0	19		95	7,8503		0,7,4248	no	coding-synonymous	ZNF404	NM_001033719.2		0,7,6361	GG,GA,AA		0.0823,0.0,0.055		209/553	44377739	7,12729	2113	4255	6368	SO:0001819	synonymous_variant	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377739A>G	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.627T>C	19.37:g.44377739A>G						ZNF404_ENST00000324394.6_Silent_p.H207H	p.H209H	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	626	-		Prostate(69;0.0352)	209					A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	c.627T>C	CCDS59394.1																																																																																				0.388	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		24	48	0	0	0	1	0	24	48				
TSEN2	80746	broad.mit.edu	37	3	12544934	12544934	+	Missense_Mutation	SNP	T	T	C	rs36084365		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12544934T>C	ENST00000284995.6	+	5	869	c.482T>C	c.(481-483)aTg>aCg	p.M161T	TSEN2_ENST00000415684.1_Missense_Mutation_p.M161T|TSEN2_ENST00000444864.1_Missense_Mutation_p.M161T|TSEN2_ENST00000383797.5_Missense_Mutation_p.M161T|TSEN2_ENST00000402228.3_Missense_Mutation_p.M161T|TSEN2_ENST00000314571.7_Missense_Mutation_p.M161T|TSEN2_ENST00000454502.2_Missense_Mutation_p.M161T|RNU6-404P_ENST00000515968.1_RNA	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	161					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTTTCCAACATGGAAGGCACA	0.522																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(481-483)aTg>aCg		TSEN2 tRNA splicing endonuclease subunit							92.0	96.0	95.0					3																	12544934		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12544934T>C	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.482T>C	3.37:g.12544934T>C	ENSP00000284995:p.Met161Thr					TSEN2_ENST00000454502.2_Missense_Mutation_p.M161T|TSEN2_ENST00000415684.1_Missense_Mutation_p.M161T|TSEN2_ENST00000402228.3_Missense_Mutation_p.M161T|TSEN2_ENST00000383797.5_Missense_Mutation_p.M161T|TSEN2_ENST00000314571.7_Missense_Mutation_p.M161T|TSEN2_ENST00000284995.6_Missense_Mutation_p.M161T	p.M161T	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN			5	869	+			161					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.482T>C	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	T	4.235	0.042619	0.08196	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.53857	0.63;0.61;0.61;0.63;0.63;0.63;0.6;0.61	4.59	-3.02	0.05446	.	1.304080	0.05076	N	0.482543	T	0.36908	0.0984	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.12013	0.005;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.0;0.002;0.0	T	0.22626	-1.0211	10	0.06757	T	0.87	0.0855	5.6602	0.17664	0.0:0.4003:0.1695:0.4302	.	161;161;161;161	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	T	161;161;161;161;161;161;161;134;161	ENSP00000406238:M161T;ENSP00000323188:M161T;ENSP00000392029:M161T;ENSP00000373307:M161T;ENSP00000385976:M161T;ENSP00000284995:M161T;ENSP00000407974:M161T;ENSP00000416510:M161T	ENSP00000284995:M161T	M	+	2	0	TSEN2	12519934	0.001000	0.12720	0.000000	0.03702	0.080000	0.17528	0.439000	0.21575	-0.773000	0.04596	0.496000	0.49642	ATG		0.522	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		12	44	0	0	0	1	0	12	44				
TEP1	7011	broad.mit.edu	37	14	20872882	20872882	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20872882T>G	ENST00000262715.5	-	5	960	c.920A>C	c.(919-921)aAc>aCc	p.N307T	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	307	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.		N -> K (in dbSNP:rs1760898).		RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCAAGATGTTATTGGCCAC	0.552																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(919-921)aAc>aCc		telomerase-associated protein 1							77.0	72.0	74.0					14																	20872882		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20872882T>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.920A>C	14.37:g.20872882T>G	ENSP00000262715:p.Asn307Thr					TEP1_ENST00000556935.1_Intron	p.N307T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	5	960	-	all_cancers(95;0.00123)	all_lung(585;0.235)	307		N -> K (in dbSNP:rs1760898).	TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.920A>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480791	0.26598	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.12672	2.66	5.55	-4.49	0.03504	TROVE (2);	1.009720	0.07938	N	0.978726	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	10	0.15499	T	0.54	0.7568	1.7884	0.03046	0.5072:0.165:0.0996:0.2281	.	307	Q99973	TEP1_HUMAN	T	307	ENSP00000262715:N307T	ENSP00000262715:N307T	N	-	2	0	TEP1	19942722	0.020000	0.18652	0.002000	0.10522	0.937000	0.57800	-0.097000	0.11042	-0.435000	0.07264	0.533000	0.62120	AAC		0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		19	64	0	0	0	1	0	19	64				
CLCN4	1183	broad.mit.edu	37	X	10174814	10174814	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:10174814G>T	ENST00000380833.4	+	8	1232	c.841G>T	c.(841-843)Gag>Tag	p.E281*	CLCN4_ENST00000421085.2_Nonsense_Mutation_p.E187*|CLCN4_ENST00000380829.1_Nonsense_Mutation_p.E281*	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	281		Mediates proton transfer from the protein to the inner aqueous phase.			chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAGTCTAGAAGAGGTGAGAAT	0.468																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(841-843)Gag>Tag		chloride channel, voltage-sensitive 4							112.0	113.0	112.0					X																	10174814		2203	4300	6503	SO:0001587	stop_gained	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10174814G>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.841G>T	X.37:g.10174814G>T	ENSP00000370213:p.Glu281*					CLCN4_ENST00000380829.1_Nonsense_Mutation_p.E281*|CLCN4_ENST00000421085.2_Nonsense_Mutation_p.E187*	p.E281*	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			8	1232	+			281				Mediates proton transfer from the protein to the inner aqueous phase.	A1L3U1|B7Z5Z4|Q9UBU1	Nonsense_Mutation	SNP	ENST00000380833.4	37	c.841G>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	G	40	8.008860	0.98607	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-38.1194	17.5376	0.87837	0.0:0.0:1.0:0.0	.	.	.	.	X	281;281;187	.	ENSP00000370209:E281X	E	+	1	0	CLCN4	10134814	1.000000	0.71417	0.989000	0.46669	0.970000	0.65996	9.366000	0.97143	2.156000	0.67533	0.600000	0.82982	GAG		0.468	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			45	84	1	0	3.4345e-17	1	4.60033e-17	45	84				
NGB	58157	broad.mit.edu	37	14	77737225	77737225	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77737225C>T	ENST00000298352.4	-	1	430	c.56G>A	c.(55-57)aGc>aAc	p.S19N		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	19	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CTCCAGCGGGCTGCGGCTCAC	0.746																																						ENST00000298352.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(55-57)aGc>aAc		neuroglobin							7.0	7.0	7.0					14																	77737225		2120	4165	6285	SO:0001583	missense	58157					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr14:77737225C>T	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.56G>A	14.37:g.77737225C>T	ENSP00000298352:p.Ser19Asn						p.S19N	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	1	430	-			19			Globin.			Missense_Mutation	SNP	ENST00000298352.4	37	c.56G>A	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	C	9.997	1.232310	0.22626	.	.	ENSG00000165553	ENST00000298352	D	0.91945	-2.94	4.43	2.12	0.27331	Globin-like (1);Globin, structural domain (1);	0.144285	0.64402	D	0.000009	T	0.70378	0.3217	N	0.01493	-0.835	0.31529	N	0.661419	B	0.02656	0.0	B	0.01281	0.0	T	0.65726	-0.6098	10	0.02654	T	1	-12.8522	4.585	0.12279	0.0:0.5269:0.0:0.4731	.	19	Q9NPG2	NGB_HUMAN	N	19	ENSP00000298352:S19N	ENSP00000298352:S19N	S	-	2	0	NGB	76806978	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.335000	0.33839	0.971000	0.38288	0.561000	0.74099	AGC		0.746	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257		5	9	0	0	0	1	0	5	9				
YJEFN3	374887	broad.mit.edu	37	19	19646484	19646484	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19646484C>A	ENST00000514277.4	+	6	728	c.690C>A	c.(688-690)ccC>ccA	p.P230P	YJEFN3_ENST00000608404.1_Silent_p.P229P|YJEFN3_ENST00000436027.5_Silent_p.P180P|CTC-260F20.3_ENST00000555938.1_Silent_p.P229P|CILP2_ENST00000291495.5_5'Flank|CILP2_ENST00000586018.1_5'Flank	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	230	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						TGGACATCCCCTCAGGCATGC	0.731																																						ENST00000555938.1																			0											c.(685-687)ccC>ccA									5.0	6.0	6.0					19																	19646484		1776	3856	5632	SO:0001819	synonymous_variant	0							g.chr19:19646484C>A		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.690C>A	19.37:g.19646484C>A						YJEFN3_ENST00000514277.3_Silent_p.P230P|YJEFN3_ENST00000436027.4_Silent_p.P180P	p.P229P							7	699	+								A6XGK9|Q4G1C0	Silent	SNP	ENST00000514277.4	37	c.687C>A	CCDS42530.1																																																																																				0.731	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		7	7	1	0	0.00198382	1	0.00207034	7	7				
C5orf42	65250	broad.mit.edu	37	5	37198935	37198935	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:37198935T>G	ENST00000508244.1	-	19	3634	c.3541A>C	c.(3541-3543)Aaa>Caa	p.K1181Q	C5orf42_ENST00000274258.7_Missense_Mutation_p.K62Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.K1181Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1181						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGATTATTTTTTTCAGCTTTT	0.368																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(184-186)Aaa>Caa		chromosome 5 open reading frame 42							58.0	63.0	61.0					5																	37198935		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37198935T>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3541A>C	5.37:g.37198935T>G	ENSP00000421690:p.Lys1181Gln					C5orf42_ENST00000425232.2_Missense_Mutation_p.K1181Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.K1181Q	p.K62Q			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		20	3771	-	all_lung(31;0.000616)		1181					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.184A>C	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714102	0.89112	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26223	1.78;1.78;1.75;1.76	5.28	5.28	0.74379	.	0.000000	0.51477	D	0.000088	T	0.37046	0.0989	N	0.24115	0.695	0.29130	N	0.879722	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.967	T	0.27468	-1.0073	10	0.72032	D	0.01	.	15.5028	0.75713	0.0:0.0:0.0:1.0	.	1181;62	E9PH94;Q9H799	.;CE042_HUMAN	Q	1181;1181;62;229;62	ENSP00000421690:K1181Q;ENSP00000389014:K1181Q;ENSP00000274258:K62Q;ENSP00000424223:K229Q	ENSP00000274258:K62Q	K	-	1	0	C5orf42	37234692	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	4.483000	0.60264	2.122000	0.65172	0.533000	0.62120	AAA		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		4	38	0	0	0	1	0	4	38				
ABCA5	23461	broad.mit.edu	37	17	67270154	67270154	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67270154G>T	ENST00000392676.3	-	20	2774	c.2710C>A	c.(2710-2712)Cct>Act	p.P904T	ABCA5_ENST00000392677.2_Missense_Mutation_p.P904T|ABCA5_ENST00000588877.1_Missense_Mutation_p.P904T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	904					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTGTCTCCAGGTTTTAGAAAA	0.363																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(2710-2712)Cct>Act		ATP-binding cassette, sub-family A (ABC1), member 5							103.0	104.0	104.0					17																	67270154		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67270154G>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2710C>A	17.37:g.67270154G>T	ENSP00000376443:p.Pro904Thr					ABCA5_ENST00000392677.2_Missense_Mutation_p.P904T|ABCA5_ENST00000588877.1_Missense_Mutation_p.P904T	p.P904T			Q8WWZ7	ABCA5_HUMAN			20	2774	-	Breast(10;3.72e-11)		904					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2710C>A	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950052	0.53186	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87809	-2.26;-2.3	5.53	4.56	0.56223	.	0.300312	0.29028	N	0.013380	D	0.88130	0.6354	M	0.76328	2.33	0.42849	D	0.994072	B;B	0.26547	0.126;0.152	B;B	0.36335	0.142;0.222	D	0.85544	0.1217	9	.	.	.	.	14.2675	0.66129	0.0726:0.0:0.9274:0.0	.	904;904	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	T	904	ENSP00000376444:P904T;ENSP00000376443:P904T	.	P	-	1	0	ABCA5	64781749	1.000000	0.71417	0.978000	0.43139	0.721000	0.41392	5.194000	0.65125	1.472000	0.48140	0.585000	0.79938	CCT		0.363	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		17	43	1	0	5.01169e-05	1	5.45927e-05	17	43				
DOCK1	1793	broad.mit.edu	37	10	128795081	128795081	+	Silent	SNP	G	G	A	rs79043452	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128795081G>A	ENST00000280333.6	+	7	652	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	181					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TAACTAGCACGATTAGTCTCT	0.368													G|||	19	0.00379393	0.0144	0.0	5008	,	,		20216	0.0		0.0	False		,,,				2504	0.0					ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(541-543)acG>acA		dedicator of cytokinesis 1		G		40,3640		0,40,1800	214.0	203.0	206.0		498	-10.2	0.0	10	dbSNP_133	206	1,8191		0,1,4095	no	coding-synonymous	DOCK1	NM_001380.3		0,41,5895	AA,AG,GG		0.0122,1.087,0.3454		166/1851	128795081	41,11831	1840	4096	5936	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128795081G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.543G>A	10.37:g.128795081G>A							p.T181T	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	7	652	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	181					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.543G>A																																																																																					0.368	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		13	115	0	0	0	1	0	13	115				
EFCAB13	124989	broad.mit.edu	37	17	45452066	45452066	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45452066T>G	ENST00000331493.2	+	12	1517	c.1106T>G	c.(1105-1107)tTt>tGt	p.F369C	EFCAB13_ENST00000517484.1_Missense_Mutation_p.F273C	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	369						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										ATAAGAAAATTTCTGGGTGGG	0.318																																						ENST00000331493.2																			0											c.(1105-1107)tTt>tGt		EF-hand calcium binding domain 13							41.0	45.0	43.0					17																	45452066		2197	4298	6495	SO:0001583	missense	124989							g.chr17:45452066T>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1106T>G	17.37:g.45452066T>G	ENSP00000332111:p.Phe369Cys					EFCAB13_ENST00000517484.1_Missense_Mutation_p.F273C	p.F369C	NM_152347.4	NP_689560.3					12	1517	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1106T>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.935466	0.34189	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.64991	0.26;-0.13	3.65	-0.143	0.13444	.	1.126930	0.06678	N	0.767530	T	0.66896	0.2836	L	0.57536	1.79	0.09310	N	1	D;D;D	0.63046	0.992;0.979;0.979	P;P;P	0.54460	0.753;0.634;0.634	T	0.55554	-0.8123	9	.	.	.	-4.5271	7.2302	0.26038	0.5966:0.0:0.0:0.4034	.	321;369;273	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	C	369;273;321	ENSP00000332111:F369C;ENSP00000430048:F273C	.	F	+	2	0	C17orf57	42807065	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.126000	0.15769	-0.073000	0.12842	-0.481000	0.04817	TTT		0.318	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		20	38	0	0	0	1	0	20	38				
TTN	7273	broad.mit.edu	37	2	179594290	179594290	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179594290G>A	ENST00000591111.1	-	62	17866	c.17642C>T	c.(17641-17643)cCc>cTc	p.P5881L	TTN_ENST00000589042.1_Missense_Mutation_p.P6198L|TTN_ENST00000342992.6_Missense_Mutation_p.P4954L|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12683					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGGTGGGGGGTTCTAAAGA	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18592-18594)cCc>cTc		titin							79.0	75.0	76.0					2																	179594290		1858	4103	5961	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594290G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17642C>T	2.37:g.179594290G>A	ENSP00000465570:p.Pro5881Leu					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4954L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5881L	p.P6198L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		64	18817	-			5881			Ig-like 43.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18593C>T		.	.	.	.	.	.	.	.	.	.	G	13.11	2.140562	0.37825	.	.	ENSG00000155657	ENST00000342992	T	0.70869	-0.52	6.06	5.18	0.71444	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74786	0.3762	M	0.85945	2.785	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.74259	-0.3723	9	0.87932	D	0	.	15.2844	0.73816	0.0669:0.0:0.9331:0.0	.	5881	Q8WZ42	TITIN_HUMAN	L	4954	ENSP00000343764:P4954L	ENSP00000343764:P4954L	P	-	2	0	TTN	179302535	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.971000	0.88012	1.570000	0.49709	0.655000	0.94253	CCC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	50	0	0	0	1	0	22	50				
KRTAP1-1	81851	broad.mit.edu	37	17	39197617	39197617	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39197617A>C	ENST00000306271.4	-	1	96	c.33T>G	c.(31-33)ttT>ttG	p.F11L		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	11						keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCAGCTGGGAAATCCACAGA	0.582																																						ENST00000306271.4																			0				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(31-33)ttT>ttG		keratin associated protein 1-1							48.0	56.0	54.0					17																	39197617		1954	4162	6116	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197617A>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.33T>G	17.37:g.39197617A>C	ENSP00000305975:p.Phe11Leu						p.F11L	NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	96	-		Breast(137;0.000496)	11					A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.33T>G	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	A	6.707	0.499089	0.12762	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.35605	1.3	4.56	-1.88	0.07713	.	.	.	.	.	T	0.31670	0.0804	M	0.68593	2.085	0.29954	N	0.820017	B	0.33345	0.409	B	0.33620	0.167	T	0.40327	-0.9569	9	0.11182	T	0.66	.	11.5772	0.50869	0.3711:0.0:0.6289:0.0	.	11	Q07627	KRA11_HUMAN	L	11	ENSP00000305975:F11L	ENSP00000305975:F11L	F	-	3	2	KRTAP1-1	36451143	0.275000	0.24201	0.956000	0.39512	0.573000	0.36030	-0.186000	0.09670	-0.365000	0.08076	-0.268000	0.10319	TTT		0.582	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		24	61	0	0	0	1	0	24	61				
YTHDC2	64848	broad.mit.edu	37	5	112903438	112903438	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112903438A>C	ENST00000161863.4	+	23	3349	c.3136A>C	c.(3136-3138)Ata>Cta	p.I1046L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1046					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGCCCATAGAATAGCTAATAT	0.418																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3136-3138)Ata>Cta		YTH domain containing 2							90.0	84.0	86.0					5																	112903438		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112903438A>C	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3136A>C	5.37:g.112903438A>C	ENSP00000161863:p.Ile1046Leu						p.I1046L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	23	3349	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1046					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3136A>C	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064871	0.36470	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02395	4.31	5.47	5.47	0.80525	Domain of unknown function DUF1605 (1);	0.044150	0.85682	D	0.000000	T	0.02418	0.0074	N	0.08118	0	0.80722	D	1	B	0.20887	0.049	B	0.22880	0.042	T	0.59118	-0.7514	10	0.45353	T	0.12	.	15.5343	0.75990	1.0:0.0:0.0:0.0	.	1046	Q9H6S0	YTDC2_HUMAN	L	1046;956	ENSP00000161863:I1046L	ENSP00000161863:I1046L	I	+	1	0	YTHDC2	112931337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.343000	0.90052	2.070000	0.61991	0.533000	0.62120	ATA		0.418	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		13	31	0	0	0	1	0	13	31				
PCDHB1	29930	broad.mit.edu	37	5	140433447	140433447	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140433447A>G	ENST00000306549.3	+	1	2469	c.2392A>G	c.(2392-2394)Aat>Gat	p.N798D		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	798					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCCCCCAAATTCTGATAG	0.448																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(2392-2394)Aat>Gat									70.0	77.0	75.0					5																	140433447		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433447A>G	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2392A>G	5.37:g.140433447A>G	ENSP00000307234:p.Asn798Asp						p.N798D	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2469	+			798					Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.2392A>G	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	A	1.182	-0.637951	0.03557	.	.	ENSG00000171815	ENST00000306549	T	0.48836	0.8	5.54	1.88	0.25563	.	1.449820	0.04662	N	0.408963	T	0.28830	0.0715	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19484	-1.0304	10	0.33940	T	0.23	.	7.1331	0.25512	0.496:0.0:0.504:0.0	.	798	Q9Y5F3	PCDB1_HUMAN	D	798	ENSP00000307234:N798D	ENSP00000307234:N798D	N	+	1	0	PCDHB1	140413631	0.003000	0.15002	0.938000	0.37757	0.030000	0.12068	0.246000	0.18160	0.511000	0.28236	-0.248000	0.11899	AAT		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		29	57	0	0	0	1	0	29	57				
CYTL1	54360	broad.mit.edu	37	4	5018861	5018861	+	Splice_Site	SNP	C	C	T	rs144723757		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5018861C>T	ENST00000307746.4	-	2	225		c.e2+1			NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1						cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AACCCTCTTACGTGTATGTCC	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20010	0.0		0.0	False		,,,				2504	0.0				Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.e2+1		cytokine-like 1		C		1,4405	2.1+/-5.4	0,1,2202	88.0	78.0	81.0			4.5	1.0	4	dbSNP_134	81	0,8600		0,0,4300	yes	splice-5	CYTL1	NM_018659.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			5018861	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5018861C>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.198+1G>A	4.37:g.5018861C>T								NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	2	225	-									Splice_Site	SNP	ENST00000307746.4	37		CCDS3379.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.01	3.279230	0.59758	2.27E-4	0.0	ENSG00000170891	ENST00000307746;ENST00000509419	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5913	0.56445	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYTL1	5069762	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.659000	0.54489	2.333000	0.79357	0.555000	0.69702	.		0.572	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659	Intron	15	30	0	0	0	1	0	15	30				
DLG2	1740	broad.mit.edu	37	11	84245767	84245767	+	Missense_Mutation	SNP	C	C	T	rs150043290		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:84245767C>T	ENST00000532653.1	-	2	352	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	DLG2_ENST00000524982.1_Missense_Mutation_p.R17Q|DLG2_ENST00000543673.1_Missense_Mutation_p.R122Q|DLG2_ENST00000398309.2_Missense_Mutation_p.R17Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R122Q			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATCTTGATATCGATACTTCTA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		21354	0.0		0.001	False		,,,				2504	0.0					ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(49-51)cGa>cAa		discs, large homolog 2 (Drosophila)							173.0	161.0	165.0					11																	84245767		1876	4113	5989	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84245767C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.50G>A	11.37:g.84245767C>T	ENSP00000435849:p.Arg17Gln					DLG2_ENST00000543673.1_Missense_Mutation_p.R122Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R122Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R17Q|DLG2_ENST00000532653.1_Missense_Mutation_p.R17Q	p.R17Q	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			2	520	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	17					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.50G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	34	5.358640	0.95854	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000527088	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.88	5.88	0.94601	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.51477	D	0.000083	T	0.65585	0.2705	M	0.77103	2.36	0.80722	D	1	P;P;P;P	0.52170	0.898;0.951;0.876;0.495	B;P;B;B	0.48921	0.335;0.595;0.226;0.166	T	0.66356	-0.5944	9	.	.	.	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	17;17;122;17	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	Q	17;122;122;17;17;122;38	ENSP00000381355:R17Q;ENSP00000365272:R122Q;ENSP00000441994:R122Q;ENSP00000432894:R17Q;ENSP00000435849:R17Q;ENSP00000435809:R38Q	.	R	-	2	0	DLG2	83923415	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.354000	0.59417	2.778000	0.95560	0.655000	0.94253	CGA		0.388	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		38	71	0	0	0	1	0	38	71				
MPHOSPH10	10199	broad.mit.edu	37	2	71360080	71360080	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360080G>T	ENST00000244230.2	+	2	494	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	MCEE_ENST00000244217.5_5'Flank|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D48Y|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	48					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGTGCTTTATGACTTTAATAA	0.338																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(142-144)Gac>Tac		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							32.0	37.0	35.0					2																	71360080		2181	4286	6467	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360080G>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.142G>T	2.37:g.71360080G>T	ENSP00000244230:p.Asp48Tyr					MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D48Y|MPHOSPH10_ENST00000468427.1_3'UTR	p.D48Y	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			2	494	+			48					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.142G>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234266	0.79688	.	.	ENSG00000124383	ENST00000244230	T	0.08634	3.07	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.16364	-1.0405	10	0.72032	D	0.01	.	14.6902	0.69080	0.0:0.0:1.0:0.0	.	48;48	B3KPV5;O00566	.;MPP10_HUMAN	Y	48	ENSP00000244230:D48Y	ENSP00000244230:D48Y	D	+	1	0	MPHOSPH10	71213588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.137000	0.94496	2.403000	0.81681	0.555000	0.69702	GAC		0.338	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		15	27	1	0	6.31663e-08	1	7.35827e-08	15	27				
PHOSPHO2	493911	broad.mit.edu	37	2	170557600	170557600	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170557600G>A	ENST00000359744.3	+	4	507	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	40							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)	p.R40Q(1)		breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GATTCTTATCGAAAAGGATTT	0.363																																						ENST00000359744.3																			1	Substitution - Missense(1)	p.R40Q(1)	lung(1)	breast(1)|large_intestine(1)|lung(6)|skin(2)	10						c.(118-120)cGa>cAa		phosphatase, orphan 2							96.0	99.0	98.0					2																	170557600		2203	4300	6503	SO:0001583	missense	493911						metal ion binding|pyridoxal phosphatase activity	g.chr2:170557600G>A	BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.119G>A	2.37:g.170557600G>A	ENSP00000352782:p.Arg40Gln					KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	p.R40Q	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN			4	507	+			40					B2RC30|D3DPC7	Missense_Mutation	SNP	ENST00000359744.3	37	c.119G>A	CCDS33319.1	.	.	.	.	.	.	.	.	.	.	G	4.217	0.039070	0.08148	.	.	ENSG00000144362	ENST00000359744;ENST00000438838;ENST00000438710;ENST00000449906	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.24	2.85	0.33270	HAD-like domain (1);	0.519054	0.17826	N	0.160694	T	0.17109	0.0411	N	0.03983	-0.305	0.09310	N	0.999994	B	0.12630	0.006	B	0.09377	0.004	T	0.26018	-1.0115	10	0.09084	T	0.74	.	9.5989	0.39591	0.7909:0.0:0.2091:0.0	.	40	Q8TCD6	PHOP2_HUMAN	Q	40	ENSP00000352782:R40Q;ENSP00000393983:R40Q;ENSP00000411844:R40Q;ENSP00000416790:R40Q	ENSP00000352782:R40Q	R	+	2	0	PHOSPHO2	170265846	0.044000	0.20184	0.448000	0.26945	0.920000	0.55202	2.139000	0.42149	0.394000	0.25230	-0.294000	0.09567	CGA		0.363	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489		24	36	0	0	0	1	0	24	36				
KBTBD6	89890	broad.mit.edu	37	13	41706285	41706285	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41706285G>T	ENST00000379485.1	-	1	597	c.363C>A	c.(361-363)tcC>tcA	p.S121S	KBTBD6_ENST00000499385.2_Silent_p.S55S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	121	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ACACCTCGAAGGACTCGGCGT	0.602																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(361-363)tcC>tcA		kelch repeat and BTB (POZ) domain containing 6							67.0	54.0	59.0					13																	41706285		2203	4297	6500	SO:0001819	synonymous_variant	89890						protein binding	g.chr13:41706285G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.363C>A	13.37:g.41706285G>T						KBTBD6_ENST00000499385.2_Silent_p.S55S	p.S121S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	597	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	121			BTB.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	c.363C>A	CCDS9376.1																																																																																				0.602	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		23	42	1	0	1.75199e-13	1	2.24662e-13	23	42				
VPRBP	9730	broad.mit.edu	37	3	51517794	51517794	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51517794C>T	ENST00000335891.5	-	1	60	c.51G>A	c.(49-51)ctG>ctA	p.L17L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	17					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ACTGCTCCAGCAGGGTAGTGA	0.393																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(49-51)ctG>ctA		Vpr (HIV-1) binding protein							143.0	130.0	134.0					3																	51517794		1917	4132	6049	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51517794C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.51G>A	3.37:g.51517794C>T							p.L17L			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	1	60	-			17					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.51G>A																																																																																					0.393	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		34	59	0	0	0	1	0	34	59				
NOA1	84273	broad.mit.edu	37	4	57843010	57843010	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57843010T>G	ENST00000264230.4	-	1	1979	c.742A>C	c.(742-744)Aac>Cac	p.N248H	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000431623.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	248	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TCCACTTTGTTTCCCAGCACG	0.697																																						ENST00000264230.4																			0											c.(742-744)Aac>Cac		nitric oxide associated 1							39.0	45.0	43.0					4																	57843010		2202	4297	6499	SO:0001583	missense	84273						GTP binding	g.chr4:57843010T>G	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.742A>C	4.37:g.57843010T>G	ENSP00000264230:p.Asn248His						p.N248H	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			1	1979	-			248					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.742A>C	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.598508	0.87055	.	.	ENSG00000084092	ENST00000264230	T	0.20200	2.09	5.52	5.52	0.82312	.	0.092654	0.64402	D	0.000001	T	0.61912	0.2385	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76468	-0.2948	10	0.87932	D	0	.	15.648	0.77070	0.0:0.0:0.0:1.0	.	248	Q8NC60	CD014_HUMAN	H	248	ENSP00000264230:N248H	ENSP00000264230:N248H	N	-	1	0	C4orf14	57537767	1.000000	0.71417	0.977000	0.42913	0.679000	0.39708	7.474000	0.81024	2.083000	0.62718	0.454000	0.30748	AAC		0.697	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		32	78	0	0	0	1	0	32	78				
ARMC5	79798	broad.mit.edu	37	16	31471145	31471145	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31471145T>G	ENST00000563544.1	+	2	846	c.300T>G	c.(298-300)gcT>gcG	p.A100A	ARMC5_ENST00000538189.1_Silent_p.A132A|ARMC5_ENST00000412665.2_5'Flank|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000457010.2_Silent_p.A100A|ARMC5_ENST00000408912.3_Silent_p.A195A|ARMC5_ENST00000268314.4_Silent_p.A100A			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	100										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGTCGGGAGCTTCTAgccccg	0.761																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(298-300)gcT>gcG		armadillo repeat containing 5							3.0	4.0	4.0					16																	31471145		1270	3033	4303	SO:0001819	synonymous_variant	79798						binding	g.chr16:31471145T>G	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.300T>G	16.37:g.31471145T>G						ARMC5_ENST00000408912.3_Silent_p.A195A|ARMC5_ENST00000268314.4_Silent_p.A100A|ARMC5_ENST00000538189.1_Silent_p.A132A|ARMC5_ENST00000563544.1_Silent_p.A100A	p.A100A	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			1	1001	+			100					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.300T>G	CCDS45472.1																																																																																				0.761	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		4	6	0	0	0	1	0	4	6				
ADH1C	126	broad.mit.edu	37	4	100257772	100257772	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100257772C>A	ENST00000515683.1	-	0	1616					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	ATTTCCATTTCTTTGGAAAGC	0.348																																						ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100257772C>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100257772C>A								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1616	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000515683.1	37																																																																																						0.348	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		3	5	1	0	6.4e-05	1	6.95424e-05	3	5				
GRAMD1C	54762	broad.mit.edu	37	3	113627897	113627897	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113627897G>T	ENST00000358160.4	+	9	1374	c.882G>T	c.(880-882)aaG>aaT	p.K294N	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.K127N|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.K89N|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	294						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGCCATCAAAGTCACTGGACT	0.333																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(880-882)aaG>aaT		GRAM domain containing 1C							78.0	84.0	82.0					3																	113627897		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113627897G>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.882G>T	3.37:g.113627897G>T	ENSP00000350881:p.Lys294Asn					GRAMD1C_ENST00000472026.1_Missense_Mutation_p.K127N|GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.K89N	p.K294N	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			9	1374	+			294					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.882G>T	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668582	0.47677	.	.	ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T	0.46063	1.49;0.91;0.88	5.37	0.0559	0.14317	.	0.385548	0.28388	N	0.015536	T	0.32376	0.0827	L	0.53249	1.67	0.09310	N	0.999998	B;B	0.32245	0.355;0.361	B;B	0.32980	0.156;0.054	T	0.23084	-1.0198	10	0.17832	T	0.49	.	9.4567	0.38758	0.6843:0.0:0.3157:0.0	.	127;294	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	N	294;127;89;89	ENSP00000350881:K294N;ENSP00000419132:K127N;ENSP00000408135:K89N	ENSP00000350881:K294N	K	+	3	2	GRAMD1C	115110587	0.914000	0.31030	0.271000	0.24616	0.882000	0.50991	0.877000	0.28106	0.111000	0.17947	-0.455000	0.05494	AAG		0.333	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		20	37	1	0	1.55795e-14	1	2.03067e-14	20	37				
OR2T12	127064	broad.mit.edu	37	1	248458370	248458370	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248458370C>T	ENST00000317996.1	-	1	510	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E171K(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			TGATCGATCTCGTGTGCACCG	0.562																																						ENST00000317996.1																			1	Substitution - Missense(1)	p.E171K(1)	large_intestine(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(511-513)Gag>Aag		olfactory receptor, family 2, subfamily T, member 12							115.0	98.0	104.0					1																	248458370		2201	4298	6499	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458370C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.511G>A	1.37:g.248458370C>T	ENSP00000324583:p.Glu171Lys						p.E171K	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	510	-	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)		171						Missense_Mutation	SNP	ENST00000317996.1	37	c.511G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	12.64	1.999421	0.35320	.	.	ENSG00000177201	ENST00000317996	T	0.00123	8.7	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.492213	0.14954	N	0.288779	T	0.00178	0.0005	L	0.52206	1.635	0.09310	N	1	P	0.39940	0.696	P	0.45343	0.477	T	0.24870	-1.0148	10	0.44086	T	0.13	.	5.6681	0.17707	0.0:0.8249:0.0:0.1751	.	171	Q8NG77	O2T12_HUMAN	K	171	ENSP00000324583:E171K	ENSP00000324583:E171K	E	-	1	0	OR2T12	246524993	0.000000	0.05858	0.008000	0.14137	0.038000	0.13279	-5.491000	0.00118	0.645000	0.30675	0.175000	0.17021	GAG		0.562	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		33	80	0	0	0	1	0	33	80				
PHKA1	5255	broad.mit.edu	37	X	71802319	71802319	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71802319G>T	ENST00000373542.4	-	31	3586	c.3427C>A	c.(3427-3429)Cat>Aat	p.H1143N	PHKA1_ENST00000339490.3_Missense_Mutation_p.H1130N|PHKA1_ENST00000541944.1_Missense_Mutation_p.H1071N|PHKA1_ENST00000373539.3_Missense_Mutation_p.H1160N|PHKA1_ENST00000373545.3_Missense_Mutation_p.H1101N	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1143					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCGATGCTATGAATTTCAATA	0.448																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3301-3303)Cat>Aat		phosphorylase kinase, alpha 1 (muscle)							120.0	90.0	100.0					X																	71802319		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71802319G>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3427C>A	X.37:g.71802319G>T	ENSP00000362643:p.His1143Asn					PHKA1_ENST00000541944.1_Missense_Mutation_p.H1071N|PHKA1_ENST00000373542.4_Missense_Mutation_p.H1143N|PHKA1_ENST00000373539.3_Missense_Mutation_p.H1160N|PHKA1_ENST00000339490.3_Missense_Mutation_p.H1130N	p.H1101N			P46020	KPB1_HUMAN			31	3739	-	Renal(35;0.156)		1143					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.3301C>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152139	0.21371	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90197	-2.63;-2.63;-2.61;-2.62;-2.63	4.97	4.97	0.65823	.	0.188096	0.50627	D	0.000109	T	0.76723	0.4027	N	0.02539	-0.55	0.28546	N	0.911873	B;B;B;B	0.25007	0.116;0.0;0.0;0.0	B;B;B;B	0.15870	0.014;0.001;0.001;0.001	T	0.66771	-0.5839	10	0.23891	T	0.37	-12.9349	14.7414	0.69458	0.0:0.0:1.0:0.0	.	1071;1101;1130;1143	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	N	1101;1143;1071;1130;1160	ENSP00000362646:H1101N;ENSP00000362643:H1143N;ENSP00000441251:H1071N;ENSP00000342469:H1130N;ENSP00000362640:H1160N	ENSP00000342469:H1130N	H	-	1	0	PHKA1	71719044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.671000	0.46842	2.063000	0.61619	0.538000	0.68166	CAT		0.448	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			18	37	1	0	1.02788e-11	1	1.28326e-11	18	37				
RNF32	140545	broad.mit.edu	37	7	156450909	156450909	+	Missense_Mutation	SNP	G	G	A	rs374778058		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:156450909G>A	ENST00000405335.1	+	7	947	c.538G>A	c.(538-540)Gat>Aat	p.D180N	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000311822.8_Missense_Mutation_p.D180N|RNF32_ENST00000392741.2_Missense_Mutation_p.D180N|RNF32_ENST00000317955.5_Missense_Mutation_p.D180N|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000343665.4_Missense_Mutation_p.D156N|RNF32_ENST00000392743.2_Missense_Mutation_p.D180N|RNF32_ENST00000432459.2_Missense_Mutation_p.D180N			Q9H0A6	RNF32_HUMAN	ring finger protein 32	180						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGTGATACACGATGGGGCCCG	0.473																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(538-540)Gat>Aat		ring finger protein 32		G	ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	50.0	55.0	53.0		538,538,538	3.9	0.0	7		53	0,8600		0,0,4300	no	missense,missense,missense	RNF32	NM_001184996.1,NM_001184997.1,NM_030936.3	23,23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	180/363,180/363,180/363	156450909	1,13005	2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156450909G>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.538G>A	7.37:g.156450909G>A	ENSP00000385285:p.Asp180Asn					RNF32_ENST00000405335.1_Missense_Mutation_p.D180N|RNF32_ENST00000343665.4_Missense_Mutation_p.D156N|RNF32_ENST00000392743.2_Missense_Mutation_p.D180N|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.D180N|RNF32_ENST00000311822.8_Missense_Mutation_p.D180N|RNF32_ENST00000432459.2_Missense_Mutation_p.D180N	p.D180N			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	5	626	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	180					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.538G>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440672	0.63067	2.27E-4	0.0	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	T;T;T;T;T;T;T;T	0.47869	0.84;2.15;2.15;2.15;1.78;2.15;0.83;1.8	4.81	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.975;0.975;0.974	T	0.72427	-0.4297	10	0.87932	D	0	-24.5482	13.4542	0.61189	0.0766:0.0:0.9234:0.0	.	180;180;180	Q9H0A6-4;G5E940;Q9H0A6	.;.;RNF32_HUMAN	N	180;180;180;180;180;180;180;156	ENSP00000385815:D180N;ENSP00000405588:D180N;ENSP00000315950:D180N;ENSP00000385285:D180N;ENSP00000308894:D180N;ENSP00000376499:D180N;ENSP00000376497:D180N;ENSP00000341185:D156N	ENSP00000308894:D180N	D	+	1	0	RNF32	156143670	1.000000	0.71417	0.009000	0.14445	0.316000	0.28119	6.536000	0.73842	1.145000	0.42336	0.650000	0.86243	GAT		0.473	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		17	33	0	0	0	1	0	17	33				
GLI2	2736	broad.mit.edu	37	2	121736119	121736119	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121736119A>G	ENST00000452319.1	+	10	1538	c.1478A>G	c.(1477-1479)cAc>cGc	p.H493R	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.H165R|GLI2_ENST00000361492.4_Missense_Mutation_p.H493R					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTGGTGGTGCACATGCGGCGA	0.652																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1477-1479)cAc>cGc		GLI family zinc finger 2							87.0	74.0	79.0					2																	121736119		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121736119A>G		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1478A>G	2.37:g.121736119A>G	ENSP00000390436:p.His493Arg					GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.H493R|GLI2_ENST00000314490.11_Missense_Mutation_p.H165R	p.H493R			P10070	GLI2_HUMAN			10	1538	+	Renal(3;0.0496)	Prostate(154;0.0623)	493						Missense_Mutation	SNP	ENST00000452319.1	37	c.1478A>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434288	0.83776	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.86865	-2.18;-2.18;-2.18	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	M	0.91406	3.205	0.80722	D	1	D;D;P;D;D	0.89917	0.971;1.0;0.955;1.0;0.999	P;D;P;D;D	0.97110	0.771;1.0;0.584;0.99;0.976	D	0.95481	0.8560	10	0.87932	D	0	.	13.8318	0.63386	1.0:0.0:0.0:0.0	.	493;476;148;148;165	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	R	493;493;165	ENSP00000390436:H493R;ENSP00000354586:H493R;ENSP00000312694:H165R	ENSP00000312694:H165R	H	+	2	0	GLI2	121452589	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.036000	0.93758	1.916000	0.55485	0.402000	0.26972	CAC		0.652	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		17	125	0	0	0	1	0	17	125				
MYO3B	140469	broad.mit.edu	37	2	171248036	171248036	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171248036G>T	ENST00000408978.4	+	15	1727	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	MYO3B_ENST00000409044.3_Missense_Mutation_p.E528D|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.E537D	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	528	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCAGGAGAGAGAAAAATTTTC	0.323																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1609-1611)gaG>gaT		myosin IIIB							21.0	22.0	22.0					2																	171248036		1773	4045	5818	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171248036G>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1584G>T	2.37:g.171248036G>T	ENSP00000386213:p.Glu528Asp					MYO3B_ENST00000408978.4_Missense_Mutation_p.E528D|MYO3B_ENST00000409044.3_Missense_Mutation_p.E528D|MYO3B_ENST00000602629.1_3'UTR	p.E537D			Q8WXR4	MYO3B_HUMAN			15	1611	+			528			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1611G>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309512	0.81247	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93028	0.7781	H	0.95917	3.74	0.48185	D	0.999604	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.986;1.0	D	0.94281	0.7520	10	0.72032	D	0.01	.	15.8933	0.79318	0.0658:0.0:0.9342:0.0	.	528;528;528	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	D	528;528;527;537;537	ENSP00000386497:E528D;ENSP00000386213:E528D;ENSP00000446237:E537D;ENSP00000335100:E537D	ENSP00000314213:E527D	E	+	3	2	MYO3B	170956282	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.693000	0.54735	2.941000	0.99782	0.655000	0.94253	GAG		0.323	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			8	9	1	0	0.0381472	1	0.0387537	8	9				
LUM	4060	broad.mit.edu	37	12	91502546	91502546	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91502546G>T	ENST00000266718.4	-	2	665	c.211C>A	c.(211-213)Ctt>Att	p.L71I	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	71					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CTAAGGTAAAGATACTTGATT	0.413																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(211-213)Ctt>Att		lumican							102.0	102.0	102.0					12																	91502546		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502546G>T	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.211C>A	12.37:g.91502546G>T	ENSP00000266718:p.Leu71Ile					LUM_ENST00000548071.1_Intron	p.L71I	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	665	-			71					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.211C>A	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244990	0.79912	.	.	ENSG00000139329	ENST00000266718	T	0.78595	-1.19	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.83012	2.62	0.58432	D	0.999998	P	0.49696	0.927	P	0.54706	0.759	D	0.86844	0.2019	10	0.66056	D	0.02	-12.9744	13.3479	0.60584	0.0721:0.0:0.9279:0.0	.	71	P51884	LUM_HUMAN	I	71	ENSP00000266718:L71I	ENSP00000266718:L71I	L	-	1	0	LUM	90026677	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.637000	0.83313	2.831000	0.97527	0.650000	0.86243	CTT		0.413	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		4	38	1	0	1	1	1	4	38				
KIF20B	9585	broad.mit.edu	37	10	91528529	91528529	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91528529C>A	ENST00000371728.3	+	31	5191	c.5126C>A	c.(5125-5127)tCt>tAt	p.S1709Y	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.S1739Y|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1669Y	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1709	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAACATATTCTTTACGGAGT	0.358																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(5215-5217)tCt>tAt		kinesin family member 20B							96.0	93.0	94.0					10																	91528529		2203	4300	6503	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91528529C>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5126C>A	10.37:g.91528529C>A	ENSP00000360793:p.Ser1709Tyr					KIF20B_ENST00000371728.3_Missense_Mutation_p.S1709Y|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1669Y	p.S1739Y			Q96Q89	KI20B_HUMAN			31	5288	+			1709			Interaction with PIN1.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.5216C>A		.	.	.	.	.	.	.	.	.	.	C	15.79	2.937214	0.52972	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.48201	0.82;0.82;0.82	5.7	3.73	0.42828	.	0.000000	0.51477	D	0.000091	T	0.57932	0.2087	L	0.46157	1.445	0.80722	D	1	D;P	0.71674	0.998;0.552	D;B	0.78314	0.991;0.157	T	0.57814	-0.7746	10	0.51188	T	0.08	-9.5763	10.0314	0.42103	0.155:0.6954:0.1495:0.0	.	1709;1669	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Y	1669;1739;1709	ENSP00000260753:S1669Y;ENSP00000411545:S1739Y;ENSP00000360793:S1709Y	ENSP00000260753:S1669Y	S	+	2	0	KIF20B	91518509	0.990000	0.36364	0.981000	0.43875	0.761000	0.43186	1.532000	0.36029	1.387000	0.46486	0.555000	0.69702	TCT		0.358	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		22	30	1	0	6.33239e-15	1	8.29613e-15	22	30				
ZNF197	10168	broad.mit.edu	37	3	44684747	44684747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44684747C>T	ENST00000396058.1	+	5	2292	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R709*|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	709					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATATGAATGTCGAGAGTGTGG	0.413																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(2125-2127)Cga>Tga		zinc finger protein 197							74.0	81.0	79.0					3																	44684747		2198	4299	6497	SO:0001587	stop_gained	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44684747C>T	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2125C>T	3.37:g.44684747C>T	ENSP00000379370:p.Arg709*					ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R709*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron	p.R709*			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	2292	+			709					B2RAH8|Q86VG0	Nonsense_Mutation	SNP	ENST00000396058.1	37	c.2125C>T	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	-	19.16	3.773580	0.69992	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	.	.	.	4.39	-0.146	0.13432	.	1.613210	0.04563	U	0.391946	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	3.1739	0.06561	0.3431:0.3974:0.1724:0.0871	.	.	.	.	X	709	.	ENSP00000345809:R709X	R	+	1	2	ZNF197	44659751	0.000000	0.05858	0.762000	0.31397	0.380000	0.30137	-1.069000	0.03444	0.129000	0.18514	-1.176000	0.01726	CGA		0.413	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		41	54	0	0	0	1	0	41	54				
RTP4	64108	broad.mit.edu	37	3	187089081	187089081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:187089081C>T	ENST00000259030.2	+	2	771	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	221					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGGGCCCAGTCGAGACCCAGA	0.448																																						ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(661-663)Cga>Tga		receptor (chemosensory) transporter protein 4							96.0	78.0	84.0					3																	187089081		2203	4300	6503	SO:0001587	stop_gained	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187089081C>T	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.661C>T	3.37:g.187089081C>T	ENSP00000259030:p.Arg221*						p.R221*	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	771	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		221					Q9H4F3	Nonsense_Mutation	SNP	ENST00000259030.2	37	c.661C>T	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201506	0.38905	.	.	ENSG00000136514	ENST00000259030	.	.	.	2.04	0.166	0.14999	.	2.329520	0.02585	N	0.099312	.	.	.	.	.	.	0.46798	D	0.999209	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	3.033	3.3086	0.07009	0.0:0.5512:0.2764:0.1723	.	.	.	.	X	221	.	ENSP00000259030:R221X	R	+	1	2	RTP4	188571775	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.080000	0.14802	0.023000	0.15187	-0.819000	0.03115	CGA		0.448	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		10	44	0	0	0	1	0	10	44				
TMEM147	10430	broad.mit.edu	37	19	36038136	36038136	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36038136T>C	ENST00000222284.5	+	6	690	c.545T>C	c.(544-546)gTt>gCt	p.V182A	TMEM147_ENST00000392205.1_Missense_Mutation_p.V182A|TMEM147_ENST00000392204.2_Missense_Mutation_p.V133A|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	182						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGGCCTTTGTTATGGAGTGA	0.527																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(397-399)gTt>gCt		transmembrane protein 147							107.0	104.0	105.0					19																	36038136		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36038136T>C	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.545T>C	19.37:g.36038136T>C	ENSP00000222284:p.Val182Ala					TMEM147_ENST00000222284.5_Missense_Mutation_p.V182A|TMEM147_ENST00000392205.1_Missense_Mutation_p.V182A	p.V133A	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	726	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		182					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.398T>C	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618768	0.46736	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.51071	0.8;0.82;0.72	5.39	5.39	0.77823	.	0.145674	0.43260	D	0.000599	T	0.29491	0.0735	N	0.14661	0.345	0.41417	D	0.987778	B;B	0.34015	0.435;0.156	B;B	0.24541	0.054;0.039	T	0.24870	-1.0148	10	0.66056	D	0.02	.	13.366	0.60684	0.0:0.0:0.0:1.0	.	133;182	A8MWW0;Q9BVK8	.;TM147_HUMAN	A	133;182;182	ENSP00000376040:V133A;ENSP00000222284:V182A;ENSP00000376041:V182A	ENSP00000222284:V182A	V	+	2	0	TMEM147	40729976	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	6.926000	0.75835	2.056000	0.61249	0.533000	0.62120	GTT		0.527	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		4	79	0	0	0	1	0	4	79				
CFTR	1080	broad.mit.edu	37	7	117230480	117230480	+	Nonsense_Mutation	SNP	G	G	T	rs397508296		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117230480G>T	ENST00000003084.6	+	13	1885	c.1753G>T	c.(1753-1755)Gaa>Taa	p.E585*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.E524*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	585	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AACAGAAAAAGAAATATTTGA	0.289									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CM920165	CFTR	M		c.(1753-1755)Gaa>Taa		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						65.0	74.0	71.0					7																	117230480		2200	4292	6492	SO:0001587	stop_gained	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117230480G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1753G>T	7.37:g.117230480G>T	ENSP00000003084:p.Glu585*					CFTR_ENST00000454343.1_Nonsense_Mutation_p.E524*	p.E585*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		13	1885	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		585			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	ENST00000003084.6	37	c.1753G>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	37	6.599631	0.97697	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	4.83	3.82	0.43975	.	0.095252	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.4584	14.3803	0.66907	0.0:0.2285:0.7715:0.0	.	.	.	.	X	585;524;555	.	ENSP00000003084:E585X	E	+	1	0	CFTR	117017716	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.951000	0.70273	0.876000	0.35872	0.563000	0.77884	GAA		0.289	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		16	24	1	0	0.000422831	1	0.000449533	16	24				
FAM57B	83723	broad.mit.edu	37	16	30037010	30037010	+	Intron	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30037010C>T	ENST00000380495.4	-	4	1272				FAM57B_ENST00000279389.4_Intron|FAM57B_ENST00000564806.1_Missense_Mutation_p.E143K	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B						ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCTGTGACCTCCCCATTGGGC	0.607																																						ENST00000564806.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(427-429)Gag>Aag		family with sequence similarity 57, member B							115.0	112.0	113.0					16																	30037010		2197	4300	6497	SO:0001627	intron_variant	83723					endoplasmic reticulum|integral to membrane		g.chr16:30037010C>T	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.540+36G>A	16.37:g.30037010C>T						FAM57B_ENST00000279389.4_Intron|FAM57B_ENST00000380495.4_Intron	p.E143K			Q71RH2	FA57B_HUMAN			3	472	-			0			TLC.		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.427G>A	CCDS10667.2																																																																																				0.607	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		43	125	0	0	0	1	0	43	125				
ZNF135	7694	broad.mit.edu	37	19	58578538	58578538	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58578538T>G	ENST00000313434.5	+	5	787	c.686T>G	c.(685-687)cTt>cGt	p.L229R	ZNF135_ENST00000506786.1_Missense_Mutation_p.L187R|ZNF135_ENST00000511556.1_Missense_Mutation_p.L241R|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Missense_Mutation_p.L241R|ZNF135_ENST00000439855.2_Missense_Mutation_p.L229R|ZNF135_ENST00000401053.4_Missense_Mutation_p.L253R	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	229					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCTCAGCACTTATCGAACAC	0.473																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(559-561)cTt>cGt		zinc finger protein 135							134.0	124.0	128.0					19																	58578538		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578538T>G	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.686T>G	19.37:g.58578538T>G	ENSP00000321406:p.Leu229Arg					ZNF135_ENST00000313434.5_Missense_Mutation_p.L229R|ZNF135_ENST00000359978.6_Missense_Mutation_p.L241R|ZNF135_ENST00000401053.4_Missense_Mutation_p.L253R|ZNF135_ENST00000511556.1_Missense_Mutation_p.L241R|ZNF135_ENST00000439855.2_Missense_Mutation_p.L229R	p.L187R			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1114	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	241					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.560T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.94|11.94	1.789799|1.789799	0.31685|0.31685	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T;T|.	0.53640|.	0.61;0.61;0.61;0.61;0.61;0.61|.	3.5|3.5	3.5|3.5	0.40072|0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.67571|0.67571	0.2907|0.2907	M|M	0.90814|0.90814	3.15|3.15	0.19575|0.19575	N|N	0.999968|0.999968	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.74348|.	0.937;0.983;0.979|.	T|T	0.61038|0.61038	-0.7143|-0.7143	9|6	0.72032|0.87932	D|D	0.01|0	.|.	11.444|11.444	0.50112|0.50112	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	241;229;241|.	E9PEV2;P52742;Q8N1I7|.	.;ZN135_HUMAN;.|.	R|V	241;253;241;229;229;241;187|247	ENSP00000441410:L253R;ENSP00000369437:L241R;ENSP00000444828:L229R;ENSP00000321406:L229R;ENSP00000422074:L241R;ENSP00000427691:L187R|.	ENSP00000321406:L229R|ENSP00000375580:L247V	L|L	+|+	2|1	0|2	ZNF135|ZNF135	63270350|63270350	0.526000|0.526000	0.26298|0.26298	0.103000|0.103000	0.21229|0.21229	0.040000|0.040000	0.13550|0.13550	4.159000|4.159000	0.58157|0.58157	1.615000|1.615000	0.50252|0.50252	0.460000|0.460000	0.39030|0.39030	CTT|TTA		0.473	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		69	130	0	0	0	1	0	69	130				
SPG11	80208	broad.mit.edu	37	15	44943956	44943956	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44943956T>G	ENST00000261866.7	-	6	1205	c.1189A>C	c.(1189-1191)Aat>Cat	p.N397H	SPG11_ENST00000427534.2_Missense_Mutation_p.N397H|SPG11_ENST00000535302.2_Missense_Mutation_p.N397H|SPG11_ENST00000558319.1_Missense_Mutation_p.N397H|SPG11_ENST00000559193.1_Missense_Mutation_p.N397H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	397					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGTAGAACATTATATTGCCCA	0.428																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(1189-1191)Aat>Cat		spastic paraplegia 11 (autosomal recessive)							205.0	171.0	183.0					15																	44943956		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44943956T>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1189A>C	15.37:g.44943956T>G	ENSP00000261866:p.Asn397His					SPG11_ENST00000427534.2_Missense_Mutation_p.N397H|SPG11_ENST00000535302.2_Missense_Mutation_p.N397H|SPG11_ENST00000559193.1_Missense_Mutation_p.N397H|SPG11_ENST00000558319.1_Missense_Mutation_p.N397H	p.N397H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	6	1205	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	397					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.1189A>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	2.034	-0.421639	0.04734	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77358	-1.09;-0.83;-0.83	6.07	1.21	0.21127	.	1.071750	0.07133	N	0.845882	T	0.68531	0.3011	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.003;0.004;0.004	T	0.52019	-0.8631	10	0.35671	T	0.21	.	4.8304	0.13437	0.0:0.215:0.2871:0.4979	.	397;397;397;397	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	H	397	ENSP00000261866:N397H;ENSP00000445278:N397H;ENSP00000396110:N397H	ENSP00000261866:N397H	N	-	1	0	SPG11	42731248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.086000	0.14935	0.166000	0.19597	-0.291000	0.09656	AAT		0.428	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			34	54	0	0	0	1	0	34	54				
PRDM10	56980	broad.mit.edu	37	11	129784708	129784708	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:129784708C>T	ENST00000360871.3	-	17	2963	c.2732G>A	c.(2731-2733)cGa>cAa	p.R911Q	PRDM10_ENST00000304538.6_Missense_Mutation_p.R825Q|PRDM10_ENST00000528746.1_Missense_Mutation_p.R885Q|PRDM10_ENST00000358825.5_Missense_Mutation_p.R915Q|PRDM10_ENST00000526082.1_Missense_Mutation_p.R829Q|PRDM10_ENST00000423662.2_Missense_Mutation_p.R829Q	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	915	Thr-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTGTGGCGTTCGGTAGTCTGT	0.547																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2743-2745)cGa>cAa		PR domain containing 10							334.0	293.0	307.0					11																	129784708		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129784708C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2732G>A	11.37:g.129784708C>T	ENSP00000354118:p.Arg911Gln					PRDM10_ENST00000304538.6_Missense_Mutation_p.R825Q|PRDM10_ENST00000360871.3_Missense_Mutation_p.R911Q|PRDM10_ENST00000528746.1_Missense_Mutation_p.R885Q|PRDM10_ENST00000526082.1_Missense_Mutation_p.R829Q|PRDM10_ENST00000423662.2_Missense_Mutation_p.R829Q	p.R915Q	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	18	2975	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	915			Thr-rich.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2744G>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574935	0.86542	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.12984	2.71;2.76;2.71;2.63;2.69;2.69;2.81	5.44	5.44	0.79542	.	0.083013	0.64402	D	0.000013	T	0.28830	0.0715	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.80764	0.978;0.994;0.99;0.978;0.99;0.99;0.99	T	0.01349	-1.1378	10	0.72032	D	0.01	-20.254	19.4587	0.94906	0.0:1.0:0.0:0.0	.	825;885;911;915;829;825;829	B7ZL72;E9PLV1;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	Q	915;825;911;829;885;829;628	ENSP00000351686:R915Q;ENSP00000302669:R825Q;ENSP00000354118:R911Q;ENSP00000398431:R829Q;ENSP00000431262:R885Q;ENSP00000432237:R829Q;ENSP00000435940:R628Q	ENSP00000302669:R825Q	R	-	2	0	PRDM10	129289918	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.112000	0.77086	2.828000	0.97474	0.655000	0.94253	CGA		0.547	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		96	168	0	0	0	1	0	96	168				
CHL1	10752	broad.mit.edu	37	3	391106	391106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:391106G>T	ENST00000256509.2	+	10	1555	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.E289*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	787	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGAAACAAAAGAAAATTATGG	0.383																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(913-915)Gaa>Taa		cell adhesion molecule L1-like							72.0	74.0	73.0					3																	391106		2203	4300	6503	SO:0001587	stop_gained	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:391106G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.913G>T	3.37:g.391106G>T	ENSP00000256509:p.Glu305*					CHL1_ENST00000397491.2_Nonsense_Mutation_p.E289*	p.E305*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	10	1555	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	289			Ig-like C2-type 3.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000256509.2	37	c.913G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	40	8.528541	0.98850	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	5.33	3.54	0.40534	.	0.172283	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	10.0904	0.42443	0.1557:0.0:0.8443:0.0	.	.	.	.	X	305;289	.	ENSP00000256509:E305X	E	+	1	0	CHL1	366106	1.000000	0.71417	0.765000	0.31456	0.687000	0.40016	3.381000	0.52455	0.746000	0.32786	0.557000	0.71058	GAA		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		18	35	1	0	1.99824e-07	1	2.29918e-07	18	35				
OR4C6	219432	broad.mit.edu	37	11	55433247	55433247	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55433247G>A	ENST00000314259.3	+	1	634	c.605G>A	c.(604-606)gGg>gAg	p.G202E		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAACAGTGGGATGATGTGT	0.468																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(604-606)gGg>gAg		olfactory receptor, family 4, subfamily C, member 6							141.0	123.0	129.0					11																	55433247		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433247G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.605G>A	11.37:g.55433247G>A	ENSP00000324769:p.Gly202Glu						p.G202E	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	634	+			202					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.605G>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381977	0.42207	.	.	ENSG00000181903	ENST00000314259	T	0.38401	1.14	4.07	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.190258	0.25708	N	0.028832	T	0.66839	0.2830	H	0.94306	3.52	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.61397	-0.7071	10	0.87932	D	0	.	11.1656	0.48541	0.0:0.0:0.815:0.185	.	202	Q8NH72	OR4C6_HUMAN	E	202	ENSP00000324769:G202E	ENSP00000324769:G202E	G	+	2	0	OR4C6	55189823	0.001000	0.12720	0.994000	0.49952	0.597000	0.36814	0.659000	0.24994	1.821000	0.53095	0.543000	0.68304	GGG		0.468	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		37	64	0	0	0	1	0	37	64				
ITGA4	3676	broad.mit.edu	37	2	182350666	182350666	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182350666G>A	ENST00000397033.2	+	10	1530	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	367					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TATGCTGCAAGATTTGGGGAA	0.363																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1099-1101)aGa>aAa		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						175.0	164.0	167.0					2																	182350666		1858	4099	5957	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182350666G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1100G>A	2.37:g.182350666G>A	ENSP00000380227:p.Arg367Lys						p.R367K	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		10	1530	+			367					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1100G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947444	0.73672	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.24723	1.84;1.84	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.83275	0.95;0.996	T	0.63093	-0.6714	10	0.56958	D	0.05	.	20.1945	0.98239	0.0:0.0:1.0:0.0	.	367;367	E7EP60;P13612	.;ITA4_HUMAN	K	367	ENSP00000380227:R367K;ENSP00000233573:R367K	ENSP00000233573:R367K	R	+	2	0	ITGA4	182058911	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.005000	0.76323	2.768000	0.95171	0.585000	0.79938	AGA		0.363	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			26	48	0	0	0	1	0	26	48				
C16orf78	123970	broad.mit.edu	37	16	49412424	49412424	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:49412424G>T	ENST00000299191.3	+	3	431	c.314G>T	c.(313-315)aGc>aTc	p.S105I		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	105						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TCCTACCGAAGCCTCTATGGA	0.567																																						ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(313-315)aGc>aTc		chromosome 16 open reading frame 78							48.0	43.0	45.0					16																	49412424		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49412424G>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.314G>T	16.37:g.49412424G>T	ENSP00000299191:p.Ser105Ile						p.S105I	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			3	431	+			105						Missense_Mutation	SNP	ENST00000299191.3	37	c.314G>T	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	7.559	0.664317	0.14710	.	.	ENSG00000166152	ENST00000299191	T	0.43294	0.95	3.04	0.606	0.17559	.	0.747635	0.11431	N	0.564800	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.24440	-1.0160	9	.	.	.	-30.5255	4.4308	0.11525	0.5569:0.0:0.4431:0.0	.	105	Q8WTQ4	CP078_HUMAN	I	105	ENSP00000299191:S105I	.	S	+	2	0	C16orf78	47969925	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.149000	0.03182	0.115000	0.18071	-0.379000	0.06801	AGC		0.567	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		3	12	1	0	1	1	1	3	12				
TRO	7216	broad.mit.edu	37	X	54953058	54953058	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54953058G>T	ENST00000173898.7	+	9	1812	c.1700G>T	c.(1699-1701)gGg>gTg	p.G567V	TRO_ENST00000399736.1_Splice_Site_p.G170V|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Splice_Site_p.G170V|TRO_ENST00000375022.4_Splice_Site_p.G567V|TRO_ENST00000420798.2_Splice_Site_p.G98V|TRO_ENST00000319167.8_Splice_Site_p.G567V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	567	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTGCGCCCTGGGTATGACTGG	0.577																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.e9+1		trophinin							131.0	120.0	124.0					X																	54953058		2203	4300	6503	SO:0001630	splice_region_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54953058G>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1700+1G>T	X.37:g.54953058G>T						TRO_ENST00000319167.8_Splice_Site_p.G567_splice|TRO_ENST00000420798.2_Splice_Site_p.G98_splice|TRO_ENST00000375022.4_Splice_Site_p.G567_splice|TRO_ENST00000399736.1_Splice_Site_p.G170_splice|TRO_ENST00000375041.2_Splice_Site_p.G170_splice	p.G567_splice	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			9	1812	+			567			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Splice_Site	SNP	ENST00000173898.7	37	c.1700_splice	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213550	0.39102	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43	2.92	2.04	0.26737	.	.	.	.	.	T	0.26521	0.0648	M	0.91140	3.18	0.54753	D	0.999985	D;D;D;D	0.89917	0.999;0.983;1.0;1.0	D;P;D;D	0.81914	0.975;0.886;0.995;0.987	T	0.01684	-1.1296	9	0.87932	D	0	.	7.206	0.25907	0.1424:0.0:0.8576:0.0	.	170;170;567;567	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	V	567;567;567;170;170;98;170	ENSP00000173898:G567V;ENSP00000318278:G567V;ENSP00000364162:G567V;ENSP00000382641:G170V;ENSP00000405126:G98V;ENSP00000364181:G170V	ENSP00000173898:G567V	G	+	2	0	TRO	54969783	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	2.510000	0.45468	0.623000	0.30267	0.513000	0.50165	GGG		0.577	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	Missense_Mutation	46	104	1	0	1.15181e-12	1	1.45902e-12	46	104				
ZNF485	220992	broad.mit.edu	37	10	44112192	44112192	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:44112192G>T	ENST00000361807.3	+	5	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I|ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTCATCAGAGAATTCATACT	0.393																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(700-702)aGa>aTa		zinc finger protein 485							53.0	58.0	56.0					10																	44112192		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112192G>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.701G>T	10.37:g.44112192G>T	ENSP00000354694:p.Arg234Ile					ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I|ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I	p.R234I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	895	+			234					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.701G>T	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300985	0.40694	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.24908	1.83;1.83;1.83	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.60904	1.88	0.44603	D	0.997574	P	0.36974	0.576	B	0.36289	0.221	T	0.15350	-1.0440	9	0.51188	T	0.08	.	10.772	0.46327	0.0:0.0:1.0:0.0	.	234	Q8NCK3	ZN485_HUMAN	I	234;143;234	ENSP00000354694:R234I;ENSP00000363560:R143I;ENSP00000363558:R234I	ENSP00000354694:R234I	R	+	2	0	ZNF485	43432198	0.004000	0.15560	0.999000	0.59377	0.949000	0.60115	1.362000	0.34148	1.613000	0.50231	0.462000	0.41574	AGA		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		23	37	1	0	3.28513e-13	1	4.19729e-13	23	37				
APOOL	139322	broad.mit.edu	37	X	84301495	84301495	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:84301495C>A	ENST00000373173.2	+	2	146	c.59C>A	c.(58-60)tCt>tAt	p.S20Y		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	20						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATATATGCATCTGTAAGTGTA	0.358																																						ENST00000373173.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(58-60)tCt>tAt		apolipoprotein O-like							84.0	76.0	78.0					X																	84301495		1865	4085	5950	SO:0001583	missense	139322					extracellular region		g.chrX:84301495C>A	AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"""chromosome X open reading frame 33"", ""family with sequence similarity 121A"""	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.59C>A	X.37:g.84301495C>A	ENSP00000362268:p.Ser20Tyr						p.S20Y	NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN			2	146	+			20					Q3KNU7|Q5H9D1	Missense_Mutation	SNP	ENST00000373173.2	37	c.59C>A	CCDS48138.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092714	0.36952	.	.	ENSG00000155008	ENST00000373173;ENST00000373169	.	.	.	4.53	3.66	0.41972	.	0.187317	0.47093	D	0.000245	T	0.70649	0.3248	M	0.70275	2.135	0.34249	D	0.678549	D	0.71674	0.998	D	0.65573	0.936	T	0.79811	-0.1646	9	0.72032	D	0.01	-13.5938	10.6217	0.45484	0.0:0.9011:0.0:0.0989	.	20	Q6UXV4	APOOL_HUMAN	Y	20	.	ENSP00000362264:S20Y	S	+	2	0	APOOL	84188151	1.000000	0.71417	0.887000	0.34795	0.241000	0.25554	2.681000	0.46926	1.022000	0.39626	0.594000	0.82650	TCT		0.358	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057385.2	NM_198450		10	25	1	0	5.50884e-06	1	6.10489e-06	10	25				
TMTC4	84899	broad.mit.edu	37	13	101258625	101258625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:101258625G>T	ENST00000376234.3	-	17	2253	c.2064C>A	c.(2062-2064)taC>taA	p.Y688*	TMTC4_ENST00000342624.5_Nonsense_Mutation_p.Y707*|TMTC4_ENST00000328767.5_Nonsense_Mutation_p.Y577*	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	688						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AATTACCATGGTAACTTGCAG	0.313																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2119-2121)taC>taA		transmembrane and tetratricopeptide repeat containing 4							80.0	73.0	75.0					13																	101258625		2202	4298	6500	SO:0001587	stop_gained	84899					integral to membrane	binding	g.chr13:101258625G>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2064C>A	13.37:g.101258625G>T	ENSP00000365408:p.Tyr688*					TMTC4_ENST00000328767.5_Nonsense_Mutation_p.Y577*|TMTC4_ENST00000376234.3_Nonsense_Mutation_p.Y688*	p.Y707*	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			18	2379	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		688					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Nonsense_Mutation	SNP	ENST00000376234.3	37	c.2121C>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	39	7.693960	0.98438	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	.	.	.	5.09	5.09	0.68999	.	0.118487	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0238	0.36215	0.1702:0.0:0.8298:0.0	.	.	.	.	X	688;707;577	.	ENSP00000365409:Y577X	Y	-	3	2	TMTC4	100056626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.586000	0.53950	2.358000	0.79984	0.650000	0.86243	TAC		0.313	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		12	17	1	0	0.00010058	1	0.000108553	12	17				
ZNF791	163049	broad.mit.edu	37	19	12739611	12739611	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12739611C>A	ENST00000343325.4	+	4	1430	c.1268C>A	c.(1267-1269)tCt>tAt	p.S423Y	AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.S314Y|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.S391Y	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	423					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)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACCTTCATTTCTCTTGAGAAC	0.403																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(1267-1269)tCt>tAt		zinc finger protein 791							108.0	111.0	110.0					19																	12739611		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739611C>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1268C>A	19.37:g.12739611C>A	ENSP00000342974:p.Ser423Tyr					ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.S314Y|ZNF791_ENST00000458122.3_Missense_Mutation_p.S391Y	p.S423Y	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	1430	+			423					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.1268C>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.414866	0.00191	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.36878	1.23;1.23;1.23	1.83	0.597	0.17504	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13841	0.0335	N	0.04746	-0.17	0.09310	N	1	B	0.25007	0.116	B	0.28638	0.092	T	0.33675	-0.9859	9	0.02654	T	1	.	5.8985	0.18953	0.5525:0.4474:0.0:0.0	.	423	Q3KP31	ZN791_HUMAN	Y	423;391;314	ENSP00000342974:S423Y;ENSP00000441761:S391Y;ENSP00000441038:S314Y	ENSP00000342974:S423Y	S	+	2	0	ZNF791	12600611	0.000000	0.05858	0.007000	0.13788	0.795000	0.44927	-1.842000	0.01681	0.053000	0.16036	0.491000	0.48974	TCT		0.403	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		43	76	1	0	7.05121e-23	1	9.83114e-23	43	76				
BCL11B	64919	broad.mit.edu	37	14	99697799	99697799	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:99697799C>T	ENST00000357195.3	-	3	532	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	175					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGAGAGCGCCCAGGGCACGC	0.706			T	TLX3	T-ALL																																	ENST00000357195.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(523-525)Ggc>Agc		B-cell CLL/lymphoma 11B (zinc finger protein)							25.0	29.0	28.0					14																	99697799		2194	4300	6494	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99697799C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.523G>A	14.37:g.99697799C>T	ENSP00000349723:p.Gly175Ser					BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	p.G175S	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	532	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	175					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.523G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784193	0.49997	.	.	ENSG00000127152	ENST00000357195	T	0.59224	0.28	5.42	5.42	0.78866	.	0.454593	0.16809	U	0.198630	T	0.40909	0.1136	N	0.19112	0.55	0.80722	D	1	B	0.27823	0.19	B	0.23419	0.046	T	0.25676	-1.0125	10	0.25106	T	0.35	-20.3619	11.8248	0.52261	0.0:0.9199:0.0:0.0801	.	175	Q9C0K0	BC11B_HUMAN	S	175	ENSP00000349723:G175S	ENSP00000349723:G175S	G	-	1	0	BCL11B	98767552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.114000	0.50383	2.543000	0.85770	0.650000	0.86243	GGC		0.706	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		5	20	0	0	0	1	0	5	20				
INSIG2	51141	broad.mit.edu	37	2	118864481	118864481	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118864481T>C	ENST00000245787.4	+	4	742		c.e4+2		INSIG2_ENST00000485520.1_Splice_Site	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2						cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TGTTTACCAGTAAGTATTAAT	0.358																																						ENST00000245787.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.e4+2		insulin induced gene 2							198.0	193.0	195.0					2																	118864481		2203	4300	6503	SO:0001630	splice_region_variant	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118864481T>C	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.536+2T>C	2.37:g.118864481T>C						INSIG2_ENST00000485520.1_Splice_Site		NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN			4	742	+								A8K5W8|Q8TBI8	Splice_Site	SNP	ENST00000245787.4	37		CCDS2122.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792621	0.31685	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8527	0.78947	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	INSIG2	118580951	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	7.477000	0.81069	2.330000	0.79161	0.477000	0.44152	.		0.358	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133	Intron	9	88	0	0	0	1	0	9	88				
NAV2	89797	broad.mit.edu	37	11	20124900	20124900	+	Missense_Mutation	SNP	G	G	T	rs531275484	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20124900G>T	ENST00000396087.3	+	36	6793	c.6694G>T	c.(6694-6696)Gtg>Ttg	p.V2232L	NAV2_ENST00000396085.1_Missense_Mutation_p.V2176L|NAV2_ENST00000349880.4_Missense_Mutation_p.V2173L|NAV2_ENST00000533917.1_Missense_Mutation_p.V1237L|NAV2_ENST00000311043.8_Missense_Mutation_p.V1237L|NAV2_ENST00000360655.4_Missense_Mutation_p.V2109L|NAV2_ENST00000540292.1_Missense_Mutation_p.V2163L|NAV2_ENST00000527559.2_Missense_Mutation_p.V2161L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2232					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTACACCACGTGAGCTCTCT	0.542																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(6526-6528)Gtg>Ttg		neuron navigator 2							175.0	142.0	153.0					11																	20124900		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20124900G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6694G>T	11.37:g.20124900G>T	ENSP00000379396:p.Val2232Leu					NAV2_ENST00000533917.1_Missense_Mutation_p.V1237L|NAV2_ENST00000360655.4_Missense_Mutation_p.V2109L|NAV2_ENST00000527559.2_Missense_Mutation_p.V2161L|NAV2_ENST00000396087.3_Missense_Mutation_p.V2232L|NAV2_ENST00000349880.4_Missense_Mutation_p.V2173L|NAV2_ENST00000311043.8_Missense_Mutation_p.V1237L|NAV2_ENST00000540292.1_Missense_Mutation_p.V2163L	p.V2176L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			34	6887	+			2232					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.6526G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441887	0.83993	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000020	D	0.88108	0.6348	L	0.50333	1.59	0.80722	D	1	P;P;D;P	0.54601	0.945;0.912;0.967;0.929	P;B;P;P	0.54346	0.565;0.358;0.749;0.46	D	0.86619	0.1878	9	.	.	.	.	19.2099	0.93749	0.0:0.0:1.0:0.0	.	2176;1237;2173;2109	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	L	2109;2176;2173;2232;2161;2163;1237;1237	ENSP00000353871:V2109L;ENSP00000379394:V2176L;ENSP00000309577:V2173L;ENSP00000379396:V2232L;ENSP00000435395:V2161L;ENSP00000443489:V2163L;ENSP00000437316:V1237L;ENSP00000312169:V1237L	.	V	+	1	0	NAV2	20081476	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.890000	0.63178	2.631000	0.89168	0.655000	0.94253	GTG		0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		31	62	1	0	2.20474e-14	1	2.87106e-14	31	62				
IFNA7	3444	broad.mit.edu	37	9	21201822	21201822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21201822G>A	ENST00000239347.3	-	1	382	c.343C>T	c.(343-345)Caa>Taa	p.Q115*		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	115					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCATTCAGTTGCTGGTAAAGT	0.478																																						ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(343-345)Caa>Taa		interferon, alpha 7							69.0	78.0	75.0					9																	21201822		2203	4297	6500	SO:0001587	stop_gained	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21201822G>A		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.343C>T	9.37:g.21201822G>A	ENSP00000239347:p.Gln115*						p.Q115*	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	382	-			115					Q14607|Q5VV14	Nonsense_Mutation	SNP	ENST00000239347.3	37	c.343C>T	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150265	0.37923	.	.	ENSG00000214042	ENST00000239347	.	.	.	3.71	1.79	0.24919	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.387	0.21566	0.1076:0.1858:0.7067:0.0	.	.	.	.	X	115	.	ENSP00000239347:Q115X	Q	-	1	0	IFNA7	21191822	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	0.724000	0.25954	0.194000	0.20326	0.586000	0.80456	CAA		0.478	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		59	100	0	0	0	1	0	59	100				
AADACL2	344752	broad.mit.edu	37	3	151463410	151463410	+	Missense_Mutation	SNP	G	G	A	rs35364301		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151463410G>A	ENST00000356517.3	+	4	654	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	182						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GATCCCACCCGAATCTGCATT	0.423																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(544-546)cGa>cAa		arylacetamide deacetylase-like 2							70.0	79.0	76.0					3																	151463410		2203	4299	6502	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151463410G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.545G>A	3.37:g.151463410G>A	ENSP00000348911:p.Arg182Gln						p.R182Q	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	654	+			182					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.545G>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121906	0.37436	.	.	ENSG00000197953	ENST00000356517	T	0.64085	-0.08	4.71	0.901	0.19284	Alpha/beta hydrolase fold-3 (1);	0.063541	0.64402	N	0.000005	T	0.74861	0.3772	M	0.78637	2.42	0.20196	N	0.999927	D	0.89917	1.0	D	0.85130	0.997	T	0.65315	-0.6198	10	0.87932	D	0	-12.6695	8.9316	0.35675	0.3194:0.0:0.6806:0.0	.	182	Q6P093	ADCL2_HUMAN	Q	182	ENSP00000348911:R182Q	ENSP00000348911:R182Q	R	+	2	0	AADACL2	152946100	0.627000	0.27129	0.001000	0.08648	0.004000	0.04260	3.484000	0.53201	0.050000	0.15949	0.655000	0.94253	CGA		0.423	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		19	81	0	0	0	1	0	19	81				
IGHV3-15	28448	broad.mit.edu	37	14	106610781	106610781	+	RNA	SNP	C	C	T	rs529235668	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:106610781C>T	ENST00000390603.2	-	0	71									immunoglobulin heavy variable 3-15																		ATGGTGAGTCCTCTGTGTTCA	0.488													.|||	2	0.000399361	0.0	0.0	5008	,	,		11268	0.002		0.0	False		,,,				2504	0.0					ENST00000390603.2																			0																				106.0	98.0	101.0					14																	106610781		1868	4092	5960			0							g.chr14:106610781C>T	X92216		14q32.33	2012-02-10			ENSG00000211943	ENSG00000211943		"""Immunoglobulins / IGH locus"""	5582	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152282		14.37:g.106610781C>T														0	71	-									RNA	SNP	ENST00000390603.2	37																																																																																						0.488	IGHV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325670.1	NG_001019		51	81	0	0	0	1	0	51	81				
CDH17	1015	broad.mit.edu	37	8	95164299	95164299	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95164299G>T	ENST00000027335.3	-	13	1717	c.1593C>A	c.(1591-1593)ttC>ttA	p.F531L	CDH17_ENST00000441892.2_Missense_Mutation_p.F317L|CDH17_ENST00000450165.2_Missense_Mutation_p.F531L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.F531F(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTCTGCTTTGAACACAATGT	0.398																																						ENST00000027335.3																			1	Substitution - coding silent(1)	p.F531F(1)	skin(1)	NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1591-1593)ttC>ttA		cadherin 17, LI cadherin (liver-intestine)							94.0	91.0	92.0					8																	95164299		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95164299G>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1593C>A	8.37:g.95164299G>T	ENSP00000027335:p.Phe531Leu					CDH17_ENST00000441892.2_Missense_Mutation_p.F317L|CDH17_ENST00000450165.2_Missense_Mutation_p.F531L	p.F531L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		13	1717	-	Breast(36;4.65e-06)		531			Cadherin 5.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.1593C>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808026	0.50421	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.34667	1.35;1.35;1.35	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.508000	0.18395	N	0.142540	T	0.20251	0.0487	N	0.11673	0.155	0.37150	D	0.902114	B;B	0.23990	0.067;0.095	B;B	0.25405	0.06;0.032	T	0.19484	-1.0304	10	0.19590	T	0.45	-0.9804	11.0654	0.47972	0.0846:0.0:0.9154:0.0	.	317;531	E7EN24;Q12864	.;CAD17_HUMAN	L	531;317;531	ENSP00000027335:F531L;ENSP00000392811:F317L;ENSP00000401468:F531L	ENSP00000027335:F531L	F	-	3	2	CDH17	95233475	0.990000	0.36364	0.947000	0.38551	0.984000	0.73092	1.754000	0.38369	2.836000	0.97738	0.655000	0.94253	TTC		0.398	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		18	31	1	0	1.56452e-12	1	1.97515e-12	18	31				
F2RL1	2150	broad.mit.edu	37	5	76115015	76115015	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76115015G>A	ENST00000296677.4	+	1	214	c.8G>A	c.(7-9)aGc>aAc	p.S3N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	3					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		AGGATGCGGAGCCCCAGCGCG	0.682																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(7-9)aGc>aAc		coagulation factor II (thrombin) receptor-like 1							5.0	7.0	7.0					5																	76115015		1777	3717	5494	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76115015G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.8G>A	5.37:g.76115015G>A	ENSP00000296677:p.Ser3Asn						p.S3N	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	1	214	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	3					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.8G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814322	0.32053	.	.	ENSG00000164251	ENST00000296677	T	0.71698	-0.59	3.28	0.299	0.15771	.	1.718730	0.02617	N	0.102753	T	0.65460	0.2693	L	0.54323	1.7	0.09310	N	1	B	0.23058	0.079	B	0.21546	0.035	T	0.43637	-0.9379	10	0.41790	T	0.15	-0.3059	5.4126	0.16356	0.1203:0.3756:0.5041:0.0	.	3	P55085	PAR2_HUMAN	N	3	ENSP00000296677:S3N	ENSP00000296677:S3N	S	+	2	0	F2RL1	76150771	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.571000	0.23669	0.044000	0.15775	-0.448000	0.05591	AGC		0.682	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			3	13	0	0	0	1	0	3	13				
IGFN1	91156	broad.mit.edu	37	1	201185815	201185815	+	Missense_Mutation	SNP	C	C	T	rs372251270|rs35669472		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201185815C>T	ENST00000335211.4	+	16	9659	c.9529C>T	c.(9529-9531)Cgg>Tgg	p.R3177W	IGFN1_ENST00000295591.8_Missense_Mutation_p.R337W	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	720						nucleus (GO:0005634)|Z disc (GO:0030018)		p.R3177W(2)|p.R337W(2)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCCGAGTGCGGGCTGTGAC	0.647																																						ENST00000335211.4																			4	Substitution - Missense(4)	p.R3177W(2)|p.R337W(2)	lung(4)	autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(9529-9531)Cgg>Tgg		immunoglobulin-like and fibronectin type III domain containing 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	47.0	51.0	50.0		9529	4.1	1.0	1		50	0,8600		0,0,4300	no	missense	IGFN1	NM_001164586.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	3177/3709	201185815	1,13005	2203	4300	6503	SO:0001583	missense	91156							g.chr1:201185815C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9529C>T	1.37:g.201185815C>T	ENSP00000334714:p.Arg3177Trp					IGFN1_ENST00000295591.8_Missense_Mutation_p.R337W	p.R3177W	NM_001164586.1	NP_001158058.1					16	9659	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.9529C>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.36|15.36	2.809830|2.809830	0.50421|0.50421	2.27E-4|2.27E-4	0.0|0.0	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.59083	.|0.29;0.29	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	.|0.263813	.|0.29948	.|N	.|0.010786	T|T	0.64294|0.64294	0.2585|0.2585	M|M	0.83312|0.83312	2.635|2.635	0.41541|0.41541	D|D	0.988515|0.988515	.|P	.|0.51240	.|0.943	.|P	.|0.48270	.|0.572	T|T	0.69617|0.69617	-0.5097|-0.5097	5|10	.|0.52906	.|T	.|0.07	.|.	9.4345|9.4345	0.38630|0.38630	0.2794:0.7206:0.0:0.0|0.2794:0.7206:0.0:0.0	.|.	.|3177	.|F8WAI1	.|.	V|W	594|3177;337	.|ENSP00000334714:R3177W;ENSP00000295591:R337W	.|ENSP00000295591:R337W	A|R	+|+	2|1	0|2	IGFN1|IGFN1	199452438|199452438	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.511000|0.511000	0.34104|0.34104	0.823000|0.823000	0.27366|0.27366	2.096000|2.096000	0.63516|0.63516	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.647	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		26	59	0	0	0	1	0	26	59				
EFCAB13	124989	broad.mit.edu	37	17	45425210	45425210	+	Missense_Mutation	SNP	G	G	A	rs149684195	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45425210G>A	ENST00000331493.2	+	9	965	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	185						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										AGTAAAATTCGAAGTGGTAAG	0.323																																						ENST00000331493.2																			0											c.(553-555)cGa>cAa		EF-hand calcium binding domain 13		G	,GLN/ARG	5,4397	9.9+/-24.2	0,5,2196	74.0	73.0	73.0		,554	-0.0	0.6	17	dbSNP_134	73	0,8588		0,0,4294	no	intron,missense	C17orf57	NM_001195192.1,NM_152347.4	,43	0,5,6490	AA,AG,GG		0.0,0.1136,0.0385	,probably-damaging	,185/974	45425210	5,12985	2201	4294	6495	SO:0001583	missense	124989							g.chr17:45425210G>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.554G>A	17.37:g.45425210G>A	ENSP00000332111:p.Arg185Gln					EFCAB13_ENST00000517484.1_Intron	p.R185Q	NM_152347.4	NP_689560.3					9	965	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.554G>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177133	0.38413	0.001136	0.0	ENSG00000178852	ENST00000331493	T	0.44482	0.92	4.57	-0.0255	0.13935	EF-hand-like domain (1);	0.364949	0.15838	N	0.242166	T	0.30448	0.0765	L	0.47716	1.5	0.41833	D	0.990087	B	0.30021	0.265	B	0.25291	0.059	T	0.10474	-1.0628	10	0.87932	D	0	-6.4187	6.4291	0.21786	0.4975:0.0:0.5024:0.0	.	185	Q8IY85	CQ057_HUMAN	Q	185	ENSP00000332111:R185Q	ENSP00000332111:R185Q	R	+	2	0	C17orf57	42780209	0.297000	0.24408	0.605000	0.28930	0.993000	0.82548	0.324000	0.19610	-0.013000	0.14199	-0.142000	0.14014	CGA		0.323	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		15	16	0	0	0	1	0	15	16				
CEP192	55125	broad.mit.edu	37	18	13059163	13059163	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:13059163T>C	ENST00000325971.8	+	19	4145	c.2552T>C	c.(2551-2553)cTt>cCt	p.L851P	CEP192_ENST00000430049.2_Missense_Mutation_p.L972P|CEP192_ENST00000506447.1_Missense_Mutation_p.L1447P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	851					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATAAAAGTGCTTTTTATACCA	0.413																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4339-4341)cTt>cCt		centrosomal protein 192kDa							146.0	142.0	143.0					18																	13059163		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13059163T>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2552T>C	18.37:g.13059163T>C	ENSP00000317156:p.Leu851Pro					CEP192_ENST00000430049.2_Missense_Mutation_p.L972P|CEP192_ENST00000325971.8_Missense_Mutation_p.L851P	p.L1447P	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			21	4420	+			1042					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4340T>C		.	.	.	.	.	.	.	.	.	.	T	20.5	4.008358	0.75046	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.26223	1.75;1.75;1.75	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	T	0.51770	0.1694	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.57100	-0.7869	10	0.87932	D	0	-20.3012	15.1474	0.72667	0.0:0.0:0.0:1.0	.	972;1447;851	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	P	1447;851;851;972	ENSP00000427550:L1447P;ENSP00000317156:L851P;ENSP00000389190:L972P	ENSP00000317156:L851P	L	+	2	0	CEP192	13049163	1.000000	0.71417	0.997000	0.53966	0.833000	0.47200	7.426000	0.80270	2.039000	0.60335	0.482000	0.46254	CTT		0.413	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		41	81	0	0	0	1	0	41	81				
TMPRSS12	283471	broad.mit.edu	37	12	51279214	51279214	+	Intron	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51279214G>A	ENST00000398458.3	+	4	827				TMPRSS12_ENST00000551456.1_Missense_Mutation_p.E280K	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12							integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TCTGAAGCCAGAAGGGAACTT	0.328																																						ENST00000551456.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						c.(838-840)Gaa>Aaa		transmembrane (C-terminal) protease, serine 12							88.0	87.0	87.0					12																	51279214		1809	4069	5878	SO:0001627	intron_variant	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51279214G>A	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.795+43G>A	12.37:g.51279214G>A						TMPRSS12_ENST00000398458.3_Intron	p.E280K			Q86WS5	TMPSC_HUMAN			4	883	+			201			Peptidase S1.		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	c.838G>A	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347997	0.82132	.	.	ENSG00000186452	ENST00000551456	D	0.88277	-2.36	3.17	2.28	0.28536	.	.	.	.	.	T	0.72922	0.3521	.	.	.	0.09310	N	1	B	0.28998	0.23	B	0.24269	0.052	T	0.59984	-0.7351	8	0.07813	T	0.8	.	6.3749	0.21501	0.1357:0.0:0.8643:0.0	.	280	F8WBX2	.	K	280	ENSP00000447259:E280K	ENSP00000447259:E280K	E	+	1	0	TMPRSS12	49565481	0.014000	0.17966	0.018000	0.16275	0.963000	0.63663	0.773000	0.26661	0.916000	0.36871	0.557000	0.71058	GAA		0.328	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		31	61	0	0	0	1	0	31	61				
GLOD5	392465	broad.mit.edu	37	X	48624299	48624299	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48624299C>T	ENST00000303227.6	+	2	164	c.123C>T	c.(121-123)atC>atT	p.I41I	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	41										endometrium(1)|lung(2)	3						TTGACCACATCGTGATGACGG	0.463													C|||	5	0.0013245	0.0	0.0	3775	,	,		13405	0.0		0.0	False		,,,				2504	0.0051					ENST00000303227.6																			0				endometrium(1)|lung(2)	3						c.(121-123)atC>atT		glyoxalase domain containing 5							70.0	58.0	62.0					X																	48624299		1943	4123	6066	SO:0001819	synonymous_variant	392465							g.chrX:48624299C>T		CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.123C>T	X.37:g.48624299C>T						GLOD5_ENST00000470676.1_3'UTR	p.I41I	NM_001080489.2	NP_001073958.2					2	164	+									Silent	SNP	ENST00000303227.6	37	c.123C>T	CCDS55410.1	.	.	.	.	.	.	.	.	.	.	c	9.113	1.007118	0.19199	.	.	ENSG00000171433	ENST00000445229	.	.	.	5.11	-9.77	0.00500	.	.	.	.	.	T	0.50292	0.1607	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61584	-0.7033	4	.	.	.	.	11.3148	0.49386	0.0:0.594:0.1807:0.2253	.	.	.	.	L	8	.	.	S	+	2	0	GLOD5	48509243	0.163000	0.22920	0.804000	0.32291	0.677000	0.39632	-1.201000	0.03026	-1.834000	0.01193	-0.381000	0.06696	TCG		0.463	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080489		11	9	0	0	0	1	0	11	9				
AGGF1	55109	broad.mit.edu	37	5	76344055	76344055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76344055C>A	ENST00000312916.7	+	7	1653	c.1271C>A	c.(1270-1272)tCa>tAa	p.S424*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	424					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CAGATAGGATCACTCTTTATC	0.323																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(1270-1272)tCa>tAa		angiogenic factor with G patch and FHA domains 1							125.0	120.0	122.0					5																	76344055		2203	4300	6503	SO:0001587	stop_gained	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76344055C>A	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1271C>A	5.37:g.76344055C>A	ENSP00000316109:p.Ser424*						p.S424*	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	7	1653	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	424					O00581|Q53YS3|Q9BU84|Q9NW66	Nonsense_Mutation	SNP	ENST00000312916.7	37	c.1271C>A	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	C	43	9.846238	0.99279	.	.	ENSG00000164252	ENST00000312916	.	.	.	5.98	5.98	0.97165	.	0.124112	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4995	20.4561	0.99145	0.0:1.0:0.0:0.0	.	.	.	.	X	424	.	ENSP00000316109:S424X	S	+	2	0	AGGF1	76379811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.105000	0.77031	2.847000	0.97988	0.591000	0.81541	TCA		0.323	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		7	84	1	0	8.12818e-05	1	8.79784e-05	7	84				
PIK3C3	5289	broad.mit.edu	37	18	39617746	39617746	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:39617746G>T	ENST00000262039.4	+	17	2016	c.1930G>T	c.(1930-1932)Gat>Tat	p.D644Y	PIK3C3_ENST00000398870.3_Missense_Mutation_p.D581Y|PIK3C3_ENST00000587402.1_5'UTR|PIK3C3_ENST00000593098.1_Missense_Mutation_p.D129Y|PIK3C3_ENST00000589056.1_5'UTR	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	644	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTTACGTCAAGATCAACTTAT	0.373										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(1930-1932)Gat>Tat		phosphatidylinositol 3-kinase, catalytic subunit type 3							195.0	181.0	186.0					18																	39617746		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39617746G>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1930G>T	18.37:g.39617746G>T	ENSP00000262039:p.Asp644Tyr	TSP Lung(28;0.18)				PIK3C3_ENST00000587402.1_5'UTR|PIK3C3_ENST00000589056.1_5'UTR|PIK3C3_ENST00000398870.3_Missense_Mutation_p.D581Y|PIK3C3_ENST00000593098.1_Missense_Mutation_p.D129Y	p.D644Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			17	2016	+			644			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1930G>T	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725146	0.89298	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.89746	-2.56;-2.56	5.91	5.91	0.95273	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	H	0.99347	4.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98393	1.0564	9	.	.	.	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	581;581;644	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	Y	644;581	ENSP00000262039:D644Y;ENSP00000381845:D581Y	.	D	+	1	0	PIK3C3	37871744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.405000	0.97313	2.813000	0.96785	0.655000	0.94253	GAT		0.373	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		34	89	1	0	1.61788e-16	1	2.15322e-16	34	89				
LTF	4057	broad.mit.edu	37	3	46497452	46497452	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46497452A>C	ENST00000231751.4	-	4	628	c.333T>G	c.(331-333)taT>taG	p.Y111*	LTF_ENST00000417439.1_Nonsense_Mutation_p.Y111*|LTF_ENST00000426532.2_Nonsense_Mutation_p.Y67*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	111	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CCACGGCATAATAGTGAGTTC	0.537																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(331-333)taT>taG		lactotransferrin	Pefloxacin(DB00487)						45.0	43.0	44.0					3																	46497452		2203	4300	6503	SO:0001587	stop_gained	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46497452A>C		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.333T>G	3.37:g.46497452A>C	ENSP00000231751:p.Tyr111*					LTF_ENST00000426532.2_Nonsense_Mutation_p.Y67*|LTF_ENST00000417439.1_Nonsense_Mutation_p.Y111*	p.Y111*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	4	628	-			111			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Nonsense_Mutation	SNP	ENST00000231751.4	37	c.333T>G	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	A	36	5.754971	0.96898	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000431944;ENST00000415180	.	.	.	4.75	-4.3	0.03710	.	0.057907	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.79	12.2561	0.54625	0.43:0.0:0.57:0.0	.	.	.	.	X	111;67;111;98;122;67	.	ENSP00000231751:Y111X	Y	-	3	2	LTF	46472456	0.999000	0.42202	0.930000	0.37139	0.949000	0.60115	0.460000	0.21924	-0.637000	0.05516	0.533000	0.62120	TAT		0.537	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		9	25	0	0	0	1	0	9	25				
DIAPH1	1729	broad.mit.edu	37	5	140951545	140951545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140951545C>T	ENST00000398557.4	-	17	2561	c.2421G>A	c.(2419-2421)gaG>gaA	p.E807E	DIAPH1_ENST00000398566.3_Silent_p.E798E|DIAPH1_ENST00000253811.6_Silent_p.E807E|DIAPH1_ENST00000389057.5_Silent_p.E798E|DIAPH1_ENST00000518047.1_Silent_p.E798E|DIAPH1_ENST00000398562.2_Silent_p.E786E|DIAPH1_ENST00000520569.1_Silent_p.E753E|DIAPH1_ENST00000389054.3_Silent_p.E807E	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	807	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCATTGTTCTCAAAGCGGT	0.478																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(2419-2421)gaG>gaA		diaphanous-related formin 1							161.0	160.0	160.0					5																	140951545		1914	4134	6048	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140951545C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2421G>A	5.37:g.140951545C>T						DIAPH1_ENST00000520569.1_Silent_p.E753E|DIAPH1_ENST00000398557.4_Silent_p.E807E|DIAPH1_ENST00000398566.3_Silent_p.E798E|DIAPH1_ENST00000389057.5_Silent_p.E798E|DIAPH1_ENST00000398562.2_Silent_p.E786E|DIAPH1_ENST00000389054.3_Silent_p.E807E|DIAPH1_ENST00000518047.1_Silent_p.E798E	p.E807E			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2561	-			807			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.2421G>A	CCDS43374.1																																																																																				0.478	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		32	58	0	0	0	1	0	32	58				
MVB12B	89853	broad.mit.edu	37	9	129102809	129102809	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:129102809T>G	ENST00000361171.3	+	2	185	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MVB12B_ENST00000436593.3_Missense_Mutation_p.V20G|MVB12B_ENST00000545391.1_Missense_Mutation_p.V35G	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	35					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										ATGCCTGAAGTCAAAGACCTC	0.468																																						ENST00000361171.3																			0											c.(103-105)gTc>gGc		multivesicular body subunit 12B							113.0	107.0	109.0					9																	129102809		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129102809T>G	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.104T>G	9.37:g.129102809T>G	ENSP00000354772:p.Val35Gly					MVB12B_ENST00000436593.3_Missense_Mutation_p.V20G|MVB12B_ENST00000545391.1_Missense_Mutation_p.V35G	p.V35G	NM_033446.2	NP_258257.1					2	185	+								Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.104T>G	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338085	0.81911	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593	T;T;T;T	0.58506	0.36;0.33;0.41;0.43	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	N	0.19112	0.55	0.80722	D	1	P;D	0.71674	0.895;0.998	B;D	0.76071	0.43;0.987	T	0.68458	-0.5403	10	0.87932	D	0	4.442	14.2829	0.66224	0.0:0.0:0.0:1.0	.	20;35	B7Z1P9;Q9H7P6	.;F125B_HUMAN	G	35;35;20;20	ENSP00000354772:V35G;ENSP00000441988:V35G;ENSP00000384751:V20G;ENSP00000401379:V20G	ENSP00000354772:V35G	V	+	2	0	FAM125B	128142630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.241000	0.78201	2.022000	0.59522	0.519000	0.50382	GTC		0.468	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		5	75	0	0	0	1	0	5	75				
TEX15	56154	broad.mit.edu	37	8	30695032	30695032	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30695032A>G	ENST00000256246.2	-	3	7693	c.7619T>C	c.(7618-7620)aTa>aCa	p.I2540T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2540					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAATTTACTATATCATTATC	0.368																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7618-7620)aTa>aCa		testis expressed 15							57.0	59.0	58.0					8																	30695032		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695032A>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7619T>C	8.37:g.30695032A>G	ENSP00000256246:p.Ile2540Thr						p.I2540T	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7693	-			2540						Missense_Mutation	SNP	ENST00000256246.2	37	c.7619T>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	6.454	0.451994	0.12283	.	.	ENSG00000133863	ENST00000256246	T	0.13307	2.6	5.17	4.01	0.46588	.	0.917210	0.09295	N	0.821758	T	0.11495	0.0280	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.25813	-1.0121	10	0.87932	D	0	.	8.4117	0.32646	0.9098:0.0:0.0902:0.0	.	2540	Q9BXT5	TEX15_HUMAN	T	2540	ENSP00000256246:I2540T	ENSP00000256246:I2540T	I	-	2	0	TEX15	30814574	0.000000	0.05858	0.001000	0.08648	0.413000	0.31143	-0.018000	0.12568	1.057000	0.40506	-0.267000	0.10333	ATA		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			10	29	0	0	0	1	0	10	29				
SACS	26278	broad.mit.edu	37	13	23907353	23907353	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23907353T>A	ENST00000382292.3	-	9	10935	c.10662A>T	c.(10660-10662)gaA>gaT	p.E3554D	SACS_ENST00000382298.3_Missense_Mutation_p.E3554D|SACS_ENST00000402364.1_Missense_Mutation_p.E2804D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3554					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAAACAATTTTTCAGGAAGCA	0.303																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(10660-10662)gaA>gaT		spastic ataxia of Charlevoix-Saguenay (sacsin)							31.0	33.0	33.0					13																	23907353		2191	4285	6476	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23907353T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10662A>T	13.37:g.23907353T>A	ENSP00000371729:p.Glu3554Asp					SACS_ENST00000402364.1_Missense_Mutation_p.E2804D|SACS_ENST00000382292.3_Missense_Mutation_p.E3554D	p.E3554D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	11250	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3554					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.10662A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893951	0.33442	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88277	-2.21;-2.36;-2.21	6.04	3.67	0.42095	.	0.260180	0.39985	N	0.001219	T	0.78136	0.4236	N	0.24115	0.695	0.29982	N	0.817644	B	0.34015	0.435	B	0.27262	0.078	T	0.72381	-0.4311	10	0.30078	T	0.28	.	10.0099	0.41979	0.0:0.1347:0.0:0.8653	.	3554	Q9NZJ4	SACS_HUMAN	D	3554;2804;3554	ENSP00000371729:E3554D;ENSP00000385844:E2804D;ENSP00000371735:E3554D	ENSP00000371729:E3554D	E	-	3	2	SACS	22805353	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.473000	0.35387	1.116000	0.41820	0.459000	0.35465	GAA		0.303	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		8	7	0	0	0	1	0	8	7				
FAT3	120114	broad.mit.edu	37	11	92085936	92085936	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92085936A>C	ENST00000298047.6	+	1	675	c.658A>C	c.(658-660)Aat>Cat	p.N220H	FAT3_ENST00000541502.1_Missense_Mutation_p.N220H|FAT3_ENST00000525166.1_Missense_Mutation_p.N70H|FAT3_ENST00000409404.2_Missense_Mutation_p.N220H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGTCGATTAAATTATGATGA	0.383										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(658-660)Aat>Cat		FAT atypical cadherin 3							106.0	99.0	101.0					11																	92085936		1839	4095	5934	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085936A>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.658A>C	11.37:g.92085936A>C	ENSP00000298047:p.Asn220His	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.N70H|FAT3_ENST00000541502.1_Missense_Mutation_p.N220H|FAT3_ENST00000409404.2_Missense_Mutation_p.N220H	p.N220H			Q8TDW7	FAT3_HUMAN			1	675	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	220			Cadherin 2.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.658A>C		.	.	.	.	.	.	.	.	.	.	A	13.79	2.343470	0.41498	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.15	4.01	0.46588	.	.	.	.	.	T	0.66056	0.2751	M	0.75777	2.31	0.31831	N	0.624668	D	0.67145	0.996	D	0.64042	0.921	T	0.70396	-0.4883	9	0.72032	D	0.01	.	6.5248	0.22295	0.7633:0.158:0.0787:0.0	.	220	Q8TDW7-3	.	H	220;220;220;70	ENSP00000298047:N220H;ENSP00000387040:N220H;ENSP00000443786:N220H;ENSP00000432586:N70H	ENSP00000298047:N220H	N	+	1	0	FAT3	91725584	0.994000	0.37717	0.994000	0.49952	0.989000	0.77384	3.223000	0.51231	0.880000	0.35969	-0.291000	0.09656	AAT		0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		32	59	0	0	0	1	0	32	59				
CHD1	1105	broad.mit.edu	37	5	98236676	98236676	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:98236676C>T	ENST00000284049.3	-	6	847	c.698G>A	c.(697-699)cGt>cAt	p.R233H		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	233					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGCTTGGCGACGAGAACTTCT	0.368																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(697-699)cGt>cAt		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						162.0	157.0	158.0					5																	98236676		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98236676C>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.698G>A	5.37:g.98236676C>T	ENSP00000284049:p.Arg233His						p.R233H	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	6	847	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	233					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.698G>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993036	0.93167	.	.	ENSG00000153922	ENST00000284049	D	0.90844	-2.74	5.51	5.51	0.81932	.	0.000000	0.34507	U	0.003905	D	0.94935	0.8362	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	P	0.61592	0.891	D	0.94890	0.8047	10	0.66056	D	0.02	.	19.7788	0.96409	0.0:1.0:0.0:0.0	.	233	O14646	CHD1_HUMAN	H	233	ENSP00000284049:R233H	ENSP00000284049:R233H	R	-	2	0	CHD1	98264576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.339000	0.79282	2.749000	0.94314	0.460000	0.39030	CGT		0.368	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		21	42	0	0	0	1	0	21	42				
UCHL5	51377	broad.mit.edu	37	1	192993056	192993056	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:192993056C>T	ENST00000367455.4	-	8	885	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	UCHL5_ENST00000530098.2_Missense_Mutation_p.R93Q|UCHL5_ENST00000367454.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000367451.4_Missense_Mutation_p.R244Q|UCHL5_ENST00000367452.4_Missense_Mutation_p.R93Q|UCHL5_ENST00000367448.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000367449.1_Missense_Mutation_p.R217Q	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	217					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TAAATTAAATCGAATTTCACC	0.333																																						ENST00000367452.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						c.(277-279)cGa>cAa		ubiquitin carboxyl-terminal hydrolase L5							99.0	101.0	100.0					1																	192993056		2202	4300	6502	SO:0001583	missense	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:192993056C>T		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.650G>A	1.37:g.192993056C>T	ENSP00000356425:p.Arg217Gln					UCHL5_ENST00000367455.3_Missense_Mutation_p.R217Q|UCHL5_ENST00000367451.4_Missense_Mutation_p.R244Q|UCHL5_ENST00000367448.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000367454.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000530098.2_Missense_Mutation_p.R93Q|UCHL5_ENST00000367449.1_Missense_Mutation_p.R217Q	p.R93Q			Q9Y5K5	UCHL5_HUMAN			8	1048	-			217					Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Missense_Mutation	SNP	ENST00000367455.4	37	c.278G>A	CCDS1378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.111686|4.111686	0.77210|0.77210	.|.	.|.	ENSG00000116750|ENSG00000116750	ENST00000420791|ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000367452;ENST00000530098;ENST00000391991;ENST00000421683	.|T;T;T;T;T;T;T;T;T	.|0.65364	.|0.85;0.85;0.85;0.85;0.85;0.85;-0.15;-0.15;0.85	5.13|5.13	4.21|4.21	0.49690|0.49690	.|Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	.|0.063176	.|0.64402	.|D	.|0.000005	T|T	0.67258|0.67258	0.2874|0.2874	M|M	0.90483|0.90483	3.12|3.12	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;P;B;P;P	.|0.48407	.|0.199;0.097;0.847;0.239;0.863;0.91	.|B;B;B;B;B;B	.|0.38194	.|0.018;0.008;0.267;0.019;0.232;0.117	T|T	0.76950|0.76950	-0.2769|-0.2769	5|10	.|0.72032	.|D	.|0.01	-23.7007|-23.7007	14.2938|14.2938	0.66298|0.66298	0.0:0.927:0.0:0.073|0.0:0.927:0.0:0.073	.|.	.|93;93;217;217;217;217	.|B7Z9U9;B4DW59;Q9Y5K5-2;Q9Y5K5-4;Q9Y5K5-3;Q9Y5K5	.|.;.;.;.;.;UCHL5_HUMAN	N|Q	108|217;217;256;244;217;217;93;93;207;208	.|ENSP00000356425:R217Q;ENSP00000356424:R217Q;ENSP00000356420:R256Q;ENSP00000356421:R244Q;ENSP00000356418:R217Q;ENSP00000356419:R217Q;ENSP00000356422:R93Q;ENSP00000431171:R93Q;ENSP00000389563:R208Q	.|ENSP00000356418:R217Q	D|R	-|-	1|2	0|0	UCHL5|UCHL5	191259679|191259679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.228000|7.228000	0.78079|0.78079	1.281000|1.281000	0.44480|0.44480	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.333	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984		8	18	0	0	0	1	0	8	18				
OR6C70	390327	broad.mit.edu	37	12	55863898	55863898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55863898C>A	ENST00000327335.4	-	1	24	c.25G>T	c.(25-27)Gaa>Taa	p.E9*	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AGAATAAATTCTATCTGCCTT	0.353																																						ENST00000327335.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						c.(25-27)Gaa>Taa		olfactory receptor, family 6, subfamily C, member 70							50.0	52.0	51.0					12																	55863898		2195	4279	6474	SO:0001587	stop_gained	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863898C>A		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.25G>T	12.37:g.55863898C>A	ENSP00000329153:p.Glu9*					RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	p.E9*	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN			1	24	-			9						Nonsense_Mutation	SNP	ENST00000327335.4	37	c.25G>T	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635059	0.87760	.	.	ENSG00000184954	ENST00000327335	.	.	.	3.74	1.88	0.25563	.	0.273856	0.25439	N	0.030675	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.577	0.39463	0.0:0.8213:0.0:0.1787	.	.	.	.	X	9	.	ENSP00000329153:E9X	E	-	1	0	OR6C70	54150165	0.000000	0.05858	0.623000	0.29173	0.992000	0.81027	-0.135000	0.10420	0.382000	0.24878	0.552000	0.68991	GAA		0.353	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			15	27	1	0	1.99824e-07	1	2.29918e-07	15	27				
DDX60L	91351	broad.mit.edu	37	4	169317216	169317216	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169317216T>G	ENST00000511577.1	-	27	3798	c.3551A>C	c.(3550-3552)gAa>gCa	p.E1184A	DDX60L_ENST00000505890.1_Missense_Mutation_p.E1185A|DDX60L_ENST00000260184.7_Missense_Mutation_p.E1184A			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1184							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATTAATATATTCAGCTCTATA	0.308																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3550-3552)gAa>gCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							58.0	54.0	55.0					4																	169317216		1791	4063	5854	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169317216T>G	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3551A>C	4.37:g.169317216T>G	ENSP00000422423:p.Glu1184Ala					DDX60L_ENST00000505890.1_Missense_Mutation_p.E1185A|DDX60L_ENST00000260184.7_Missense_Mutation_p.E1184A	p.E1184A			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	27	3798	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1184					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.3551A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.74|10.74	1.434461|1.434461	0.25813|0.25813	.|.	.|.	ENSG00000181381|ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890|ENST00000514580	T;T;T|.	0.45276|.	0.9;0.9;0.96|.	1.91|1.91	1.91|1.91	0.25777|0.25777	.|.	0.419874|.	0.16821|.	U|.	0.198177|.	T|.	0.40791|.	0.1131|.	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	D;P;D|.	0.71674|.	0.998;0.86;0.998|.	D;B;D|.	0.63703|.	0.917;0.333;0.917|.	T|.	0.31613|.	-0.9937|.	10|.	0.21540|.	T|.	0.41|.	.|.	4.1411|4.1411	0.10194|0.10194	0.3119:0.0:0.0:0.6881|0.3119:0.0:0.0:0.6881	.|.	1184;1185;1184|.	E9PAP8;D6R906;Q5H9U9|.	.;.;DDX6L_HUMAN|.	A|C	1184;1184;1185|71	ENSP00000260184:E1184A;ENSP00000422423:E1184A;ENSP00000422202:E1185A|.	ENSP00000260184:E1184A|.	E|X	-|-	2|3	0|0	DDX60L|DDX60L	169553791|169553791	0.380000|0.380000	0.25131|0.25131	0.006000|0.006000	0.13384|0.13384	0.057000|0.057000	0.15508|0.15508	1.050000|1.050000	0.30404|0.30404	1.111000|1.111000	0.41721|0.41721	0.260000|0.260000	0.18958|0.18958	GAA|TGA		0.308	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		10	19	0	0	0	1	0	10	19				
SYCE2	256126	broad.mit.edu	37	19	13015378	13015378	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:13015378G>A	ENST00000293695.7	-	3	252	c.234C>T	c.(232-234)atC>atT	p.I78I	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	78					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGATGTTTTCGATCAGCTCCT	0.552																																						ENST00000293695.7																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(232-234)atC>atT		synaptonemal complex central element protein 2							228.0	229.0	229.0					19																	13015378		2079	4209	6288	SO:0001819	synonymous_variant	256126				cell division	central element		g.chr19:13015378G>A	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.234C>T	19.37:g.13015378G>A						SYCE2_ENST00000591229.1_5'UTR	p.I78I	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN			3	252	-			78					B4DYD3	Silent	SNP	ENST00000293695.7	37	c.234C>T	CCDS42509.1																																																																																				0.552	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		54	98	0	0	0	1	0	54	98				
CCND2	894	broad.mit.edu	37	12	4398043	4398043	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4398043G>A	ENST00000261254.3	+	4	876	c.607G>A	c.(607-609)Gca>Aca	p.A203T		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	203					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GTCGATGATCGCAACTGGAAG	0.547			T	IGL@	"""NHL,CLL"""																																	ENST00000261254.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"""NHL,CLL"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(607-609)Gca>Aca		cyclin D2							179.0	157.0	165.0					12																	4398043		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4398043G>A	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.607G>A	12.37:g.4398043G>A	ENSP00000261254:p.Ala203Thr						p.A203T	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		4	876	+			203					A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.607G>A	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664109	0.96745	.	.	ENSG00000118971	ENST00000261254	T	0.71341	-0.56	5.4	5.4	0.78164	Cyclin, C-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.87822	0.6274	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.90391	0.4395	10	0.87932	D	0	.	18.5389	0.91020	0.0:0.0:1.0:0.0	.	203	P30279	CCND2_HUMAN	T	203	ENSP00000261254:A203T	ENSP00000261254:A203T	A	+	1	0	CCND2	4268304	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	9.420000	0.97426	2.698000	0.92095	0.655000	0.94253	GCA		0.547	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		28	134	0	0	0	1	0	28	134				
OR6N2	81442	broad.mit.edu	37	1	158747230	158747230	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158747230G>T	ENST00000339258.1	-	1	195	c.196C>A	c.(196-198)Ctt>Att	p.L66I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AAGAAGGAAAGAACACTGACA	0.438																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(196-198)Ctt>Att		olfactory receptor, family 6, subfamily N, member 2							174.0	164.0	167.0					1																	158747230		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747230G>T	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.196C>A	1.37:g.158747230G>T	ENSP00000344101:p.Leu66Ile						p.L66I	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	195	-	all_hematologic(112;0.0378)		66					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.196C>A	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417057	0.62511	.	.	ENSG00000188340	ENST00000339258	T	0.00587	6.38	5.17	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34676	N	0.003771	T	0.02267	0.0070	H	0.96604	3.85	0.34367	D	0.691598	D	0.89917	1.0	D	0.80764	0.994	T	0.02625	-1.1132	10	0.72032	D	0.01	-22.295	9.5415	0.39255	0.1682:0.0:0.8318:0.0	.	66	Q8NGY6	OR6N2_HUMAN	I	66	ENSP00000344101:L66I	ENSP00000344101:L66I	L	-	1	0	OR6N2	157013854	0.573000	0.26676	0.985000	0.45067	0.953000	0.61014	0.879000	0.28146	1.414000	0.47017	0.650000	0.86243	CTT		0.438	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			9	195	1	0	0.00621372	1	0.0064192	9	195				
PAPPA	5069	broad.mit.edu	37	9	118969875	118969875	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:118969875A>G	ENST00000328252.3	+	3	1988	c.1619A>G	c.(1618-1620)cAc>cGc	p.H540R	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	540	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCCCTGATGCACTTAGGTGAG	0.453																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1618-1620)cAc>cGc		pregnancy-associated plasma protein A, pappalysin 1							67.0	62.0	64.0					9																	118969875		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118969875A>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1619A>G	9.37:g.118969875A>G	ENSP00000330658:p.His540Arg					PAPPA_ENST00000534838.1_Intron	p.H540R	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			3	1988	+			540			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1619A>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315895	0.60524	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01933	4.55	6.07	4.91	0.64330	Metallopeptidase, catalytic domain (1);	0.043555	0.85682	D	0.000000	T	0.07999	0.0200	L	0.46157	1.445	0.80722	D	1	P;D	0.64830	0.89;0.994	B;D	0.64595	0.245;0.927	T	0.05241	-1.0897	10	0.66056	D	0.02	-18.1584	13.5287	0.61609	0.8698:0.1302:0.0:0.0	.	82;540	E7EMD3;Q13219	.;PAPP1_HUMAN	R	540;82	ENSP00000330658:H540R	ENSP00000330658:H540R	H	+	2	0	PAPPA	118009696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	1.087000	0.41251	0.533000	0.62120	CAC		0.453	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		10	29	0	0	0	1	0	10	29				
PCDHA11	56138	broad.mit.edu	37	5	140249078	140249078	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140249078G>A	ENST00000398640.2	+	1	390	c.390G>A	c.(388-390)ccG>ccA	p.P130P	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACCCGCCGGTGTTCT	0.547																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(388-390)ccG>ccA									105.0	120.0	115.0					5																	140249078		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140249078G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.390G>A	5.37:g.140249078G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.P130P	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	390	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.390G>A	CCDS47284.1																																																																																				0.547	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		83	129	0	0	0	1	0	83	129				
TSG101	7251	broad.mit.edu	37	11	18524068	18524068	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:18524068G>T	ENST00000251968.3	-	7	1020	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	TSG101_ENST00000536719.1_Missense_Mutation_p.S202Y|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000357193.3_Missense_Mutation_p.S97Y	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	202					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AGGGTACTGAGAACTTGTTGT	0.433																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(604-606)tCt>tAt		tumor susceptibility 101							101.0	91.0	95.0					11																	18524068		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18524068G>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.605C>A	11.37:g.18524068G>T	ENSP00000251968:p.Ser202Tyr					TSG101_ENST00000251968.3_Missense_Mutation_p.S202Y|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000357193.3_Missense_Mutation_p.S97Y	p.S202Y			Q99816	TS101_HUMAN			7	739	-			202					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.605C>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322158	0.60634	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.43688	0.94;0.94;0.94	5.74	5.74	0.90152	.	2.119240	0.02416	N	0.082093	T	0.48642	0.1511	L	0.56769	1.78	0.37436	D	0.914246	B	0.23540	0.087	B	0.23852	0.049	T	0.36212	-0.9757	10	0.59425	D	0.04	-19.8974	12.3836	0.55322	0.0798:0.0:0.9202:0.0	.	202	Q99816	TS101_HUMAN	Y	202;202;97	ENSP00000438471:S202Y;ENSP00000251968:S202Y;ENSP00000349721:S97Y	ENSP00000251968:S202Y	S	-	2	0	TSG101	18480644	0.998000	0.40836	0.994000	0.49952	0.969000	0.65631	2.619000	0.46401	2.715000	0.92844	0.491000	0.48974	TCT		0.433	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		10	18	1	0	1.49906e-05	1	1.64923e-05	10	18				
ACRC	93953	broad.mit.edu	37	X	70823530	70823530	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70823530G>T	ENST00000373695.1	+	7	940	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ACRC_ENST00000373696.3_Missense_Mutation_p.D135Y			Q96QF7	ACRC_HUMAN	acidic repeat containing	135	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CAACGGTAATGATTTGGAAGT	0.463																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(403-405)Gat>Tat		acidic repeat containing							202.0	178.0	186.0					X																	70823530		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823530G>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.403G>T	X.37:g.70823530G>T	ENSP00000362799:p.Asp135Tyr					ACRC_ENST00000373696.3_Missense_Mutation_p.D135Y	p.D135Y			Q96QF7	ACRC_HUMAN			7	940	+	Renal(35;0.156)		135			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.403G>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	6.031	0.374088	0.11409	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.48836	0.8;0.8	1.05	0.0365	0.14192	.	.	.	.	.	T	0.26122	0.0637	N	0.14661	0.345	0.09310	N	1	B	0.17852	0.024	B	0.11329	0.006	T	0.21348	-1.0248	9	0.87932	D	0	.	3.304	0.06993	0.3287:0.0:0.6713:0.0	.	135	Q96QF7	ACRC_HUMAN	Y	135	ENSP00000362800:D135Y;ENSP00000362799:D135Y	ENSP00000362799:D135Y	D	+	1	0	ACRC	70740255	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.268000	0.08607	-0.054000	0.13266	0.462000	0.41574	GAT		0.463	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			86	161	1	0	6.71967e-41	1	9.7083e-41	86	161				
TRPC4	7223	broad.mit.edu	37	13	38211329	38211329	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38211329C>A	ENST00000379705.3	-	11	3502	c.2645G>T	c.(2644-2646)aGa>aTa	p.R882I	TRPC4_ENST00000358477.2_Missense_Mutation_p.R798I|TRPC4_ENST00000447043.1_Missense_Mutation_p.R741I|TRPC4_ENST00000379681.3_Missense_Mutation_p.R887I|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.R733I|TRPC4_ENST00000355779.2_Missense_Mutation_p.R741I|TRPC4_ENST00000379679.1_Missense_Mutation_p.R709I|TRPC4_ENST00000338947.5_Missense_Mutation_p.R709I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	882	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGAATATTTCTCTCAAGTGG	0.438																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2644-2646)aGa>aTa		transient receptor potential cation channel, subfamily C, member 4							90.0	85.0	87.0					13																	38211329		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211329C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2645G>T	13.37:g.38211329C>A	ENSP00000369027:p.Arg882Ile					TRPC4_ENST00000338947.5_Missense_Mutation_p.R709I|TRPC4_ENST00000379681.3_Missense_Mutation_p.R887I|TRPC4_ENST00000379679.1_Missense_Mutation_p.R709I|TRPC4_ENST00000358477.2_Missense_Mutation_p.R798I|TRPC4_ENST00000447043.1_Missense_Mutation_p.R741I|TRPC4_ENST00000355779.2_Missense_Mutation_p.R741I|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.R733I	p.R882I			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3502	-			882			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2645G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711135	0.48517	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.72942	-0.33;-0.33;-0.14;-0.14;0.02;-0.42;-0.7;0.02	5.76	3.78	0.43462	.	1.446920	0.03687	N	0.246453	T	0.67192	0.2867	N	0.08118	0	0.80722	D	1	B;B;P;P;P;B	0.48694	0.004;0.32;0.914;0.755;0.606;0.112	B;B;P;B;B;B	0.61328	0.005;0.134;0.887;0.367;0.369;0.041	T	0.65352	-0.6189	10	0.72032	D	0.01	-9.2475	2.6721	0.05070	0.0:0.4484:0.2998:0.2518	.	741;733;887;709;798;882	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	I	882;887;709;709;741;798;733;741	ENSP00000369027:R882I;ENSP00000369003:R887I;ENSP00000342580:R709I;ENSP00000369001:R709I;ENSP00000348025:R741I;ENSP00000351264:R798I;ENSP00000368995:R733I;ENSP00000414316:R741I	ENSP00000342580:R709I	R	-	2	0	TRPC4	37109329	0.999000	0.42202	0.669000	0.29828	0.992000	0.81027	1.988000	0.40697	1.413000	0.46997	0.563000	0.77884	AGA		0.438	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		13	41	1	0	2.27111e-07	1	2.60515e-07	13	41				
ABCB7	22	broad.mit.edu	37	X	74318853	74318853	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:74318853G>T	ENST00000373394.3	-	4	384	c.377C>A	c.(376-378)tCt>tAt	p.S126Y	ABCB7_ENST00000339447.4_Intron|ABCB7_ENST00000253577.3_Missense_Mutation_p.S127Y			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	126					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CCACACATAAGAAAGCATTGC	0.373																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(379-381)tCt>tAt		ATP-binding cassette, sub-family B (MDR/TAP), member 7							106.0	88.0	94.0					X																	74318853		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74318853G>T	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.377C>A	X.37:g.74318853G>T	ENSP00000362492:p.Ser126Tyr					ABCB7_ENST00000373394.3_Missense_Mutation_p.S126Y|ABCB7_ENST00000339447.4_Intron	p.S127Y	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			4	404	-			126					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.380C>A		.	.	.	.	.	.	.	.	.	.	G	25.4	4.633142	0.87660	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.68	5.68	0.88126	ABC transporter, transmembrane domain, type 1 (1);	0.050134	0.85682	D	0.000000	D	0.93132	0.7813	L	0.39898	1.24	0.58432	D	0.99999	P;P;D	0.54047	0.905;0.726;0.964	P;B;P	0.58721	0.6;0.396;0.844	D	0.93827	0.7124	10	0.87932	D	0	0.8793	16.2258	0.82288	0.0:0.0:1.0:0.0	.	100;126;127	G3V1J3;O75027;O75027-2	.;ABCB7_HUMAN;.	Y	100;127;126;100;71;139	ENSP00000253577:S127Y;ENSP00000362492:S126Y;ENSP00000436586:S100Y;ENSP00000435521:S71Y	ENSP00000253577:S127Y	S	-	2	0	ABCB7	74235578	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.790000	0.91844	2.524000	0.85096	0.544000	0.68410	TCT		0.373	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		18	36	1	0	3.52763e-06	1	3.92945e-06	18	36				
MNAT1	4331	broad.mit.edu	37	14	61275130	61275130	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61275130A>G	ENST00000261245.4	+	4	505	c.404A>G	c.(403-405)aAa>aGa	p.K135R	MNAT1_ENST00000539616.2_Missense_Mutation_p.K135R	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	135					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GTTATTCAGAAAAATAAATTA	0.303								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000261245.4																			0				NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(403-405)aAa>aGa	Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)	MNAT CDK-activating kinase assembly factor 1							46.0	45.0	45.0					14																	61275130		2202	4293	6495	SO:0001583	missense	4331				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	g.chr14:61275130A>G	X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.404A>G	14.37:g.61275130A>G	ENSP00000261245:p.Lys135Arg					MNAT1_ENST00000539616.2_Missense_Mutation_p.K135R	p.K135R	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0174)	4	505	+			135					G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	ENST00000261245.4	37	c.404A>G	CCDS9750.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432598	0.25813	.	.	ENSG00000020426	ENST00000261245;ENST00000539616;ENST00000554002	T;T	0.43294	0.95;0.96	5.12	5.12	0.69794	Cdk-activating kinase assembly factor MAT1, centre (1);	0.089767	0.85682	D	0.000000	T	0.17831	0.0428	N	0.04320	-0.23	0.37463	D	0.915296	B;B	0.14805	0.005;0.011	B;B	0.20184	0.016;0.028	T	0.16571	-1.0398	10	0.02654	T	1	0.0386	9.721	0.40302	0.9218:0.0:0.0782:0.0	.	135;135	G3V1U8;P51948	.;MAT1_HUMAN	R	135;135;30	ENSP00000261245:K135R;ENSP00000446437:K135R	ENSP00000261245:K135R	K	+	2	0	MNAT1	60344883	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.633000	0.61318	2.055000	0.61198	0.533000	0.62120	AAA		0.303	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431		7	8	0	0	0	1	0	7	8				
ZNF174	7727	broad.mit.edu	37	16	3454597	3454597	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3454597T>C	ENST00000268655.4	+	2	1159	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R	ZNF174_ENST00000575752.1_Missense_Mutation_p.W192R|ZNF174_ENST00000572544.1_Missense_Mutation_p.W192R|ZNF174_ENST00000344823.5_Missense_Mutation_p.W192R|ZNF174_ENST00000571936.1_Missense_Mutation_p.W192R	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	192					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCCCCATCATTGGGAGAAATC	0.552																																						ENST00000268655.4																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(574-576)Tgg>Cgg		zinc finger protein 174							76.0	81.0	79.0					16																	3454597		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3454597T>C	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.574T>C	16.37:g.3454597T>C	ENSP00000268655:p.Trp192Arg					LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000344823.5_Missense_Mutation_p.W192R|ZNF174_ENST00000572544.1_Missense_Mutation_p.W192R|ZNF174_ENST00000571936.1_Missense_Mutation_p.W192R|ZNF174_ENST00000575752.1_Missense_Mutation_p.W192R	p.W192R	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN			2	1159	+			192					Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.574T>C	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	T	2.769	-0.256079	0.05829	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.05855	4.24;3.38	5.05	0.907	0.19321	.	0.503430	0.17126	N	0.186018	T	0.03178	0.0093	N	0.14661	0.345	0.21579	N	0.999633	B;B;B	0.14012	0.001;0.009;0.005	B;B;B	0.14578	0.001;0.011;0.005	T	0.44697	-0.9311	10	0.23891	T	0.37	.	4.625	0.12474	0.2835:0.0:0.3525:0.3639	.	192;192;192	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	R	192	ENSP00000339781:W192R;ENSP00000268655:W192R	ENSP00000268655:W192R	W	+	1	0	ZNF174	3394598	0.231000	0.23751	0.133000	0.22050	0.825000	0.46686	0.204000	0.17335	0.103000	0.17682	0.460000	0.39030	TGG		0.552	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		39	82	0	0	0	1	0	39	82				
CLEC5A	23601	broad.mit.edu	37	7	141631561	141631561	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141631561C>A	ENST00000546910.1	-	6	607	c.411G>T	c.(409-411)gaG>gaT	p.E137D	CLEC5A_ENST00000551012.2_Missense_Mutation_p.E114D|CLEC5A_ENST00000439991.1_Missense_Mutation_p.E33D|CLEC5A_ENST00000438351.1_Missense_Mutation_p.E114D|CLEC5A_ENST00000470595.1_5'UTR|MGAM_ENST00000497554.1_3'UTR	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	137	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GCCACCTTTTCTCTTCACGAT	0.388																																					GBM(154;1592 2613 3360 42983)	ENST00000546910.1																			0				endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10						c.(409-411)gaG>gaT		C-type lectin domain family 5, member A							185.0	170.0	175.0					7																	141631561		2203	4300	6503	SO:0001583	missense	23601				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	g.chr7:141631561C>A		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.411G>T	7.37:g.141631561C>A	ENSP00000449999:p.Glu137Asp					CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.E114D|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E114D|CLEC5A_ENST00000439991.1_Missense_Mutation_p.E33D	p.E137D	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN			6	607	-	Melanoma(164;0.0171)		137			C-type lectin.		Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	c.411G>T	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	C	4.043	0.005547	0.07866	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000439991;ENST00000438351	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.07	3.26	0.37387	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.830093	0.10799	N	0.632885	T	0.19005	0.0456	L	0.54323	1.7	0.22330	N	0.999195	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.12837	0.008;0.0;0.0;0.0	T	0.21143	-1.0254	10	0.23302	T	0.38	-3.2016	6.538	0.22365	0.0:0.7207:0.1841:0.0952	.	114;114;136;137	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	D	137;114;33;114	ENSP00000449999:E137D;ENSP00000446890:E114D;ENSP00000395258:E33D;ENSP00000414897:E114D	ENSP00000265306:E137D	E	-	3	2	CLEC5A	141278030	0.010000	0.17322	0.620000	0.29132	0.623000	0.37688	0.589000	0.23939	1.493000	0.48517	-0.150000	0.13652	GAG		0.388	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252		35	66	1	0	7.61001e-30	1	1.08524e-29	35	66				
GTF3C3	9330	broad.mit.edu	37	2	197639893	197639893	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197639893C>T	ENST00000263956.3	-	13	1867	c.1778G>A	c.(1777-1779)aGa>aAa	p.R593K		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	593					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATTTTGTCTCTCGATACTTT	0.343																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1777-1779)aGa>aAa		general transcription factor IIIC, polypeptide 3, 102kDa							111.0	107.0	108.0					2																	197639893		2203	4300	6503	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197639893C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1778G>A	2.37:g.197639893C>T	ENSP00000263956:p.Arg593Lys						p.R593K	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			13	1867	-			593					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.1778G>A	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965152	0.92855	.	.	ENSG00000119041	ENST00000263956;ENST00000435252	T	0.46063	0.88	5.2	5.2	0.72013	.	0.201087	0.47093	D	0.000244	T	0.28699	0.0711	N	0.24115	0.695	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.14980	-1.0453	10	0.02654	T	1	-11.2641	18.9309	0.92564	0.0:1.0:0.0:0.0	.	593	Q9Y5Q9	TF3C3_HUMAN	K	593;116	ENSP00000263956:R593K	ENSP00000263956:R593K	R	-	2	0	GTF3C3	197348138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.821000	0.69257	2.699000	0.92147	0.655000	0.94253	AGA		0.343	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			10	19	0	0	0	1	0	10	19				
LRRC48	83450	broad.mit.edu	37	17	17909551	17909551	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17909551G>A	ENST00000399187.1	+	11	1404	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	LRRC48_ENST00000313838.8_Missense_Mutation_p.E396K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E396K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E396K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E396K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	396						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACTGTTTATCGAAAATGTCCA	0.433																																						ENST00000313838.8																			0				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7						c.(1186-1188)Gaa>Aaa		leucine rich repeat containing 48							108.0	100.0	102.0					17																	17909551		1907	4112	6019	SO:0001583	missense	83450					cytoplasm		g.chr17:17909551G>A	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1186G>A	17.37:g.17909551G>A	ENSP00000382140:p.Glu396Lys					LRRC48_ENST00000584166.1_Missense_Mutation_p.E396K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E396K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E396K|LRRC48_ENST00000399187.1_Missense_Mutation_p.E396K	p.E396K	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN			12	1565	+	all_neural(463;0.228)		396					A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	c.1186G>A	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858357	0.51376	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.59	5.59	0.84812	.	0.146322	0.64402	D	0.000011	T	0.54415	0.1857	M	0.87758	2.905	0.80722	D	1	B;P	0.39737	0.203;0.685	B;B	0.32724	0.026;0.151	T	0.65639	-0.6119	10	0.62326	D	0.03	-12.6232	18.3572	0.90361	0.0:0.0:1.0:0.0	.	396;396	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	396	ENSP00000326870:E396K;ENSP00000394020:E396K;ENSP00000382140:E396K;ENSP00000382136:E396K	ENSP00000326870:E396K	E	+	1	0	LRRC48	17850276	1.000000	0.71417	0.859000	0.33776	0.328000	0.28507	5.322000	0.65852	2.613000	0.88420	0.655000	0.94253	GAA		0.433	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		4	12	0	0	0	1	0	4	12				
VPS13B	157680	broad.mit.edu	37	8	100779084	100779084	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100779084T>G	ENST00000358544.2	+	40	7319	c.7208T>G	c.(7207-7209)gTt>gGt	p.V2403G	VPS13B_ENST00000357162.2_Missense_Mutation_p.V2378G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2403					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAAAGCAAAGTTTGTGAACTG	0.358																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(7207-7209)gTt>gGt		vacuolar protein sorting 13 homolog B (yeast)							72.0	73.0	72.0					8																	100779084		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100779084T>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7208T>G	8.37:g.100779084T>G	ENSP00000351346:p.Val2403Gly					VPS13B_ENST00000357162.2_Missense_Mutation_p.V2378G|VPS13B_ENST00000395996.1_3'UTR	p.V2403G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		40	7319	+	Breast(36;3.73e-07)		2403					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7208T>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127455	0.37533	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69306	-0.39;-0.39	5.95	4.77	0.60923	.	0.377633	0.25674	N	0.029055	T	0.48732	0.1516	L	0.40543	1.245	0.80722	D	1	P;P	0.38078	0.617;0.483	B;B	0.31101	0.124;0.058	T	0.39502	-0.9611	10	0.20046	T	0.44	.	6.9339	0.24457	0.1336:0.0691:0.0:0.7973	.	2378;2403	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	2378;2403	ENSP00000349685:V2378G;ENSP00000351346:V2403G	ENSP00000349685:V2378G	V	+	2	0	VPS13B	100848260	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.186000	0.42593	1.037000	0.40024	0.528000	0.53228	GTT		0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		16	29	0	0	0	1	0	16	29				
SYT1	6857	broad.mit.edu	37	12	79679637	79679637	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:79679637C>A	ENST00000261205.4	+	5	894	c.237C>A	c.(235-237)atC>atA	p.I79I	SYT1_ENST00000457153.2_Silent_p.I79I|SYT1_ENST00000393240.3_Silent_p.I79I|SYT1_ENST00000552744.1_Silent_p.I79I	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	79					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GCTTTTGTATCTGTAAGAAAT	0.403																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(235-237)atC>atA		synaptotagmin I							143.0	135.0	137.0					12																	79679637		2203	4300	6503	SO:0001819	synonymous_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79679637C>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.237C>A	12.37:g.79679637C>A						SYT1_ENST00000393240.3_Silent_p.I79I|SYT1_ENST00000457153.2_Silent_p.I79I|SYT1_ENST00000552744.1_Silent_p.I79I	p.I79I	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			5	894	+			79					Q6AI31	Silent	SNP	ENST00000261205.4	37	c.237C>A	CCDS9017.1																																																																																				0.403	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		15	42	1	0	1.49906e-05	1	1.64923e-05	15	42				
ZFYVE27	118813	broad.mit.edu	37	10	99498292	99498292	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:99498292G>A	ENST00000393677.4	+	2	262	c.58G>A	c.(58-60)Gag>Aag	p.E20K	ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370610.3_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	20					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CGTGATGCCCGAGGCTCCCCT	0.537																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(58-60)Gag>Aag		zinc finger, FYVE domain containing 27							133.0	132.0	132.0					10																	99498292		2203	4300	6503	SO:0001583	missense	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99498292G>A	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.58G>A	10.37:g.99498292G>A	ENSP00000377282:p.Glu20Lys					ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E20K	p.E20K	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	2	262	+		Colorectal(252;0.0846)	20					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.58G>A	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336765	0.95758	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257	T;T;T;T;T	0.48522	0.81;1.44;1.43;1.43;1.44	5.04	5.04	0.67666	.	0.170044	0.49916	D	0.000138	T	0.40423	0.1116	L	0.27053	0.805	0.80722	D	1	P;P;P;P;P;P	0.39131	0.661;0.509;0.641;0.641;0.648;0.509	B;B;B;B;B;B	0.38562	0.143;0.1;0.202;0.202;0.276;0.1	T	0.45731	-0.9241	10	0.72032	D	0.01	-16.3267	17.9941	0.89177	0.0:0.0:1.0:0.0	.	20;20;20;20;20;20	B7Z404;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;ZFY27_HUMAN	K	20	ENSP00000337993:E20K;ENSP00000377282:E20K;ENSP00000401580:E20K;ENSP00000353069:E20K;ENSP00000348593:E20K	ENSP00000337993:E20K	E	+	1	0	ZFYVE27	99488282	1.000000	0.71417	0.846000	0.33378	0.953000	0.61014	5.325000	0.65869	2.331000	0.79229	0.561000	0.74099	GAG		0.537	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		53	65	0	0	0	1	0	53	65				
HSPA4	3308	broad.mit.edu	37	5	132424107	132424107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132424107G>T	ENST00000304858.2	+	9	1286	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	333					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTAAAGAAAGAAGATATTTA	0.308																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(997-999)Gaa>Taa		heat shock 70kDa protein 4							46.0	44.0	44.0					5																	132424107		2203	4300	6503	SO:0001587	stop_gained	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132424107G>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.997G>T	5.37:g.132424107G>T	ENSP00000302961:p.Glu333*					HSPA4_ENST00000504328.1_3'UTR	p.E333*	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1286	+			333					O95756|Q2TAL4|Q9BUK9	Nonsense_Mutation	SNP	ENST00000304858.2	37	c.997G>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	39	7.575271	0.98368	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	.	.	.	6.02	6.02	0.97574	.	0.043330	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-24.8118	20.5373	0.99239	0.0:0.0:1.0:0.0	.	.	.	.	X	333	.	ENSP00000302961:E333X	E	+	1	0	HSPA4	132452006	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	GAA		0.308	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		11	15	1	0	3.07112e-06	1	3.42433e-06	11	15				
GSDMC	56169	broad.mit.edu	37	8	130772804	130772804	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:130772804T>G	ENST00000276708.4	-	6	1589	c.708A>C	c.(706-708)agA>agC	p.R236S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	236						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTGAAAGGTTCTCTGTTCAT	0.373																																						ENST00000276708.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(706-708)agA>agC		gasdermin C							103.0	100.0	101.0					8																	130772804		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130772804T>G	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.708A>C	8.37:g.130772804T>G	ENSP00000276708:p.Arg236Ser						p.R236S	NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN			6	1589	-			236					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.708A>C	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	T	3.265	-0.150393	0.06585	.	.	ENSG00000147697	ENST00000276708	T	0.24908	1.83	3.91	-7.82	0.01205	.	4.434490	0.00728	N	0.000935	T	0.14700	0.0355	L	0.32530	0.975	0.09310	N	1	B	0.32010	0.351	B	0.28784	0.094	T	0.11012	-1.0605	10	0.13470	T	0.59	.	6.2073	0.20610	0.101:0.5355:0.2043:0.1593	.	236	Q9BYG8	GSDMC_HUMAN	S	236	ENSP00000276708:R236S	ENSP00000276708:R236S	R	-	3	2	GSDMC	130841986	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.142000	0.01298	-3.023000	0.00269	-1.295000	0.01343	AGA		0.373	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			8	62	0	0	0	1	0	8	62				
TVP23B	51030	broad.mit.edu	37	17	18694243	18694243	+	Nonsense_Mutation	SNP	C	C	T	rs372868254		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18694243C>T	ENST00000307767.8	+	3	429	c.130C>T	c.(130-132)Cga>Tga	p.R44*	TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000574226.1_Nonsense_Mutation_p.R44*|TVP23B_ENST00000581733.1_5'UTR	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	44						integral component of membrane (GO:0016021)											CTTATTCTTTCGAGTCAGTGC	0.383																																						ENST00000307767.8																			0											c.(130-132)Cga>Tga		trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)		C	stop/ARG	0,4406		0,0,2203	166.0	163.0	164.0		130	1.7	1.0	17		164	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	FAM18B1	NM_016078.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		44/206	18694243	1,13005	2203	4300	6503	SO:0001587	stop_gained	51030							g.chr17:18694243C>T	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.130C>T	17.37:g.18694243C>T	ENSP00000305654:p.Arg44*					TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Nonsense_Mutation_p.R44*	p.R44*	NM_016078.4	NP_057162.4					3	429	+								A8K448|Q96HK5|Q9Y3E6	Nonsense_Mutation	SNP	ENST00000307767.8	37	c.130C>T	CCDS42274.1	.	.	.	.	.	.	.	.	.	.	C	36	5.919636	0.97105	0.0	1.16E-4	ENSG00000171928	ENST00000307767	.	.	.	3.76	1.72	0.24424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2187	7.7473	0.28877	0.0:0.7825:0.0:0.2175	.	.	.	.	X	44	.	ENSP00000305654:R44X	R	+	1	2	FAM18B1	18634968	1.000000	0.71417	0.999000	0.59377	0.697000	0.40408	4.791000	0.62460	0.262000	0.21774	-0.556000	0.04195	CGA		0.383	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		36	83	0	0	0	1	0	36	83				
CACNA2D4	93589	broad.mit.edu	37	12	1909191	1909191	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:1909191G>A	ENST00000382722.5	-	33	3311	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G	CACNA2D4_ENST00000538450.1_Silent_p.G113G|CACNA2D4_ENST00000586184.1_Silent_p.G983G|CACNA2D4_ENST00000587995.1_Silent_p.G958G|CACNA2D4_ENST00000588077.1_Silent_p.G919G|CACNA2D4_ENST00000538027.2_Silent_p.G128G|CACNA2D4_ENST00000585708.1_Silent_p.G919G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	983					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGTACCAGGAGCCCCAGACAC	0.592																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2947-2949)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 4							40.0	48.0	45.0					12																	1909191		2095	4232	6327	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1909191G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2949C>T	12.37:g.1909191G>A						CACNA2D4_ENST00000585708.1_Silent_p.G919G|CACNA2D4_ENST00000538450.1_Silent_p.G113G|CACNA2D4_ENST00000538027.2_Silent_p.G128G|CACNA2D4_ENST00000588077.1_Silent_p.G919G|CACNA2D4_ENST00000587995.1_Silent_p.G958G|CACNA2D4_ENST00000586184.1_Silent_p.G983G	p.G983G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	33	3311	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	983					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.2949C>T	CCDS44785.1																																																																																				0.592	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			7	16	0	0	0	1	0	7	16				
USP16	10600	broad.mit.edu	37	21	30403021	30403021	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30403021A>C	ENST00000334352.4	+	4	398	c.167A>C	c.(166-168)aAa>aCa	p.K56T	USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.K56T|USP16_ENST00000399975.3_Missense_Mutation_p.K56T	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ACTGACAATAAAGTGAAAGAT	0.368																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(166-168)aAa>aCa		ubiquitin specific peptidase 16							103.0	97.0	99.0					21																	30403021		2203	4300	6503	SO:0001583	missense	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30403021A>C	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.167A>C	21.37:g.30403021A>C	ENSP00000334808:p.Lys56Thr					USP16_ENST00000399975.3_Missense_Mutation_p.K56T|USP16_ENST00000399976.2_Missense_Mutation_p.K56T|USP16_ENST00000535828.1_Intron	p.K56T	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			4	398	+			56						Missense_Mutation	SNP	ENST00000334352.4	37	c.167A>C	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089250	0.55968	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000399973	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.15	2.73	0.32206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (1);	0.213354	0.48286	D	0.000191	T	0.51193	0.1660	M	0.62723	1.935	0.80722	D	1	P;P;P	0.40476	0.665;0.67;0.718	P;P;P	0.56042	0.661;0.685;0.79	T	0.53158	-0.8478	10	0.66056	D	0.02	.	5.777	0.18285	0.7327:0.0:0.1311:0.1362	.	42;56;56	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	T	56	ENSP00000382857:K56T;ENSP00000382858:K56T;ENSP00000334808:K56T;ENSP00000382855:K56T	ENSP00000334808:K56T	K	+	2	0	USP16	29324892	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	2.803000	0.47924	2.164000	0.68074	0.254000	0.18369	AAA		0.368	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			10	38	0	0	0	1	0	10	38				
CACNA2D1	781	broad.mit.edu	37	7	81978960	81978960	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:81978960T>G	ENST00000356253.5	-	2	356	c.101A>C	c.(100-102)aAa>aCa	p.K34T	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K34T|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.K34T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	34					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CACCCATGATTTGATACTGCA	0.363																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(100-102)aAa>aCa		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						171.0	155.0	161.0					7																	81978960		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81978960T>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.101A>C	7.37:g.81978960T>G	ENSP00000348589:p.Lys34Thr					CACNA2D1_ENST00000423588.1_Missense_Mutation_p.K34T|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K34T	p.K34T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			2	439	-			34					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.101A>C		.	.	.	.	.	.	.	.	.	.	T	21.9	4.213707	0.79352	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.24350	3.16;3.15;1.86	6.01	6.01	0.97437	.	0.067156	0.56097	D	0.000036	T	0.41650	0.1168	L	0.59436	1.845	0.80722	D	1	P	0.49961	0.93	P	0.53861	0.736	T	0.23797	-1.0178	10	0.72032	D	0.01	-21.1452	15.5596	0.76234	0.0:0.0:0.0:1.0	.	34	P54289-2	.	T	34	ENSP00000349320:K34T;ENSP00000348589:K34T;ENSP00000405395:K34T	ENSP00000284088:K34T	K	-	2	0	CACNA2D1	81816896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.466000	0.66731	2.317000	0.78254	0.524000	0.50904	AAA		0.363	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				8	47	0	0	0	1	0	8	47				
ZNF484	83744	broad.mit.edu	37	9	95608521	95608521	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95608521A>G	ENST00000375495.3	-	5	2696	c.2548T>C	c.(2548-2550)Tct>Cct	p.S850P	ZNF484_ENST00000395506.3_Missense_Mutation_p.S852P|ZNF484_ENST00000395505.2_Missense_Mutation_p.S814P|ZNF484_ENST00000332591.6_Missense_Mutation_p.S814P|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	850					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TAGATAGAAGAAAGTTGGCCT	0.423																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(2440-2442)Tct>Cct		zinc finger protein 484							131.0	126.0	127.0					9																	95608521		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608521A>G	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2548T>C	9.37:g.95608521A>G	ENSP00000364645:p.Ser850Pro					ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.S814P|ZNF484_ENST00000375495.3_Missense_Mutation_p.S850P|ZNF484_ENST00000395506.3_Missense_Mutation_p.S852P	p.S814P	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	2532	-			850					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.2440T>C	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	9.746	1.166133	0.21621	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.37;3.39;3.23	2.49	-0.0277	0.13925	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.40534	-0.9558	9	0.59425	D	0.04	.	3.1083	0.06350	0.656:0.0:0.1334:0.2106	.	852;850	B4DRI2;Q5JVG2	.;ZN484_HUMAN	P	814;852;850;814	ENSP00000378881:S814P;ENSP00000378882:S852P;ENSP00000364645:S850P;ENSP00000364646:S814P	ENSP00000364646:S814P	S	-	1	0	ZNF484	94648342	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.032000	0.12266	-0.020000	0.14032	0.523000	0.50628	TCT		0.423	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		33	62	0	0	0	1	0	33	62				
CWC22	57703	broad.mit.edu	37	2	180835565	180835565	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:180835565C>T	ENST00000410053.3	-	10	1258	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	CWC22_ENST00000295749.6_Missense_Mutation_p.R320Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	320	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CAGAATGTTTCGAAGGCGTTC	0.308																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(958-960)cGa>cAa		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							105.0	99.0	101.0					2																	180835565		1820	4082	5902	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180835565C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.959G>A	2.37:g.180835565C>T	ENSP00000387006:p.Arg320Gln					CWC22_ENST00000295749.6_Missense_Mutation_p.R320Q	p.R320Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			10	1258	-			320			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.959G>A	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906134	0.92107	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.19532	2.14;2.14;2.14	5.95	5.07	0.68467	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.051008	0.85682	N	0.000000	T	0.58779	0.2146	H	0.95224	3.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.70371	-0.4890	10	0.87932	D	0	-8.7815	14.6808	0.69015	0.0:0.9296:0.0:0.0704	.	320	Q9HCG8	CWC22_HUMAN	Q	320	ENSP00000387006:R320Q;ENSP00000295749:R320Q;ENSP00000384159:R320Q	ENSP00000295749:R320Q	R	-	2	0	CWC22	180543810	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.084000	0.71335	2.824000	0.97209	0.655000	0.94253	CGA		0.308	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		24	41	0	0	0	1	0	24	41				
GSX2	170825	broad.mit.edu	37	4	54967832	54967832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:54967832G>T	ENST00000326902.2	+	2	972	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR|AC110298.1_ENST00000408292.1_RNA	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	220					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCTGGAGAGAGAATTCTCTTC	0.552																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(658-660)Gaa>Taa		GS homeobox 2							107.0	113.0	111.0					4																	54967832		2203	4300	6503	SO:0001587	stop_gained	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54967832G>T		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.658G>T	4.37:g.54967832G>T	ENSP00000319118:p.Glu220*					FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR	p.E220*	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		2	972	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		220						Nonsense_Mutation	SNP	ENST00000326902.2	37	c.658G>T	CCDS3494.1	.	.	.	.	.	.	.	.	.	.	G	39	7.903303	0.98554	.	.	ENSG00000180613	ENST00000326902	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2636	0.90044	0.0:0.0:1.0:0.0	.	.	.	.	X	220	.	ENSP00000319118:E220X	E	+	1	0	GSX2	54662589	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.657000	0.98554	2.535000	0.85469	0.484000	0.47621	GAA		0.552	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		26	116	1	0	8.24728e-16	1	1.09065e-15	26	116				
OLFML1	283298	broad.mit.edu	37	11	7531307	7531307	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7531307G>T	ENST00000329293.3	+	3	1491	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.R366I|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	366	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGAGACCAAGAAGTCACTCC	0.498																																						ENST00000329293.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24						c.(1096-1098)aGa>aTa		olfactomedin-like 1							94.0	85.0	88.0					11																	7531307		2201	4296	6497	SO:0001583	missense	283298					extracellular region		g.chr11:7531307G>T	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.1097G>T	11.37:g.7531307G>T	ENSP00000332511:p.Arg366Ile					OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.R366I|CTD-2516F10.2_ENST00000530201.1_RNA	p.R366I	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	1491	+			366			Olfactomedin-like.		B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	c.1097G>T	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224069	0.58668	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.89415	-2.51;-2.51	5.51	3.54	0.40534	Olfactomedin-like (3);	0.234064	0.41823	D	0.000812	D	0.89213	0.6651	L	0.53249	1.67	0.80722	D	1	P;P	0.52692	0.912;0.955	P;P	0.54210	0.679;0.745	D	0.88369	0.2993	10	0.54805	T	0.06	.	8.965	0.35872	0.0828:0.1494:0.7678:0.0	.	230;366	B4DN61;Q6UWY5	.;OLFL1_HUMAN	I	366	ENSP00000433455:R366I;ENSP00000332511:R366I	ENSP00000332511:R366I	R	+	2	0	OLFML1	7487883	0.080000	0.21391	1.000000	0.80357	0.982000	0.71751	1.902000	0.39848	1.338000	0.45544	-0.244000	0.11960	AGA		0.498	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		24	43	1	0	5.35356e-11	1	6.62625e-11	24	43				
ZNF212	7988	broad.mit.edu	37	7	148947339	148947339	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:148947339G>A	ENST00000335870.2	+	2	242	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	38					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGACCACCGAGATTTCACTCT	0.542																																						ENST00000335870.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(112-114)gaG>gaA		zinc finger protein 212							56.0	59.0	58.0					7																	148947339		2203	4300	6503	SO:0001819	synonymous_variant	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947339G>A	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.114G>A	7.37:g.148947339G>A							p.E38E	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		2	242	+	Melanoma(164;0.15)		38					B2RCF4|Q13396|Q8N664	Silent	SNP	ENST00000335870.2	37	c.114G>A	CCDS5896.1																																																																																				0.542	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		24	30	0	0	0	1	0	24	30				
NELL2	4753	broad.mit.edu	37	12	45169892	45169892	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45169892G>A	ENST00000429094.2	-	8	1308	c.804C>T	c.(802-804)tgC>tgT	p.C268C	NELL2_ENST00000452445.2_Silent_p.C268C|NELL2_ENST00000551601.1_Silent_p.C267C|NELL2_ENST00000437801.2_Silent_p.C318C|NELL2_ENST00000395487.2_Silent_p.C267C|NELL2_ENST00000549027.1_Silent_p.C267C|NELL2_ENST00000333837.4_Silent_p.C291C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	268						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTTCACAATAGCACTGATCCA	0.458																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(802-804)tgC>tgT		NEL-like 2 (chicken)							177.0	147.0	157.0					12																	45169892		2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45169892G>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.804C>T	12.37:g.45169892G>A						NELL2_ENST00000549027.1_Silent_p.C267C|NELL2_ENST00000395487.2_Silent_p.C267C|NELL2_ENST00000452445.2_Silent_p.C268C|NELL2_ENST00000333837.4_Silent_p.C291C|NELL2_ENST00000437801.2_Silent_p.C318C|NELL2_ENST00000551601.1_Silent_p.C267C	p.C268C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	8	1308	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	268					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.804C>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353674	0.24512	.	.	ENSG00000184613	ENST00000550313	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	T	0.76205	0.3955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74272	-0.3719	4	.	.	.	-13.6253	19.6425	0.95763	0.0:0.0:1.0:0.0	.	.	.	.	V	17	.	.	A	-	2	0	NELL2	43456159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.374000	0.66167	2.645000	0.89757	0.650000	0.86243	GCT		0.458	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		19	49	0	0	0	1	0	19	49				
PDE6B	5158	broad.mit.edu	37	4	654306	654306	+	Missense_Mutation	SNP	C	C	A	rs552436847		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:654306C>A	ENST00000496514.1	+	12	1539	c.1518C>A	c.(1516-1518)ttC>ttA	p.F506L	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.F227L|PDE6B_ENST00000255622.6_Missense_Mutation_p.F506L			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	506					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AATTCCACTTCTCTGACCTGG	0.592																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1516-1518)ttC>ttA		phosphodiesterase 6B, cGMP-specific, rod, beta							93.0	75.0	81.0					4																	654306		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:654306C>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1518C>A	4.37:g.654306C>A	ENSP00000420295:p.Phe506Leu					PDE6B_ENST00000496514.1_Missense_Mutation_p.F506L|PDE6B_ENST00000429163.2_Missense_Mutation_p.F227L	p.F506L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			12	1561	+			506					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1518C>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564793	0.45694	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.78707	-1.2;-1.2;-1.2	4.25	3.41	0.39046	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	M	0.77313	2.365	0.50039	D	0.999842	P;P	0.43788	0.553;0.817	B;P	0.46510	0.32;0.519	T	0.80355	-0.1417	10	0.87932	D	0	.	9.632	0.39785	0.0:0.8945:0.0:0.1055	.	506;506	P35913;P35913-2	PDE6B_HUMAN;.	L	506;506;227	ENSP00000255622:F506L;ENSP00000420295:F506L;ENSP00000406334:F227L	ENSP00000255622:F506L	F	+	3	2	PDE6B	644306	1.000000	0.71417	0.995000	0.50966	0.661000	0.39034	1.397000	0.34543	0.778000	0.33520	0.297000	0.19635	TTC		0.592	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		15	23	1	0	1.05317e-09	1	1.27574e-09	15	23				
NUP54	53371	broad.mit.edu	37	4	77053689	77053689	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77053689C>T	ENST00000264883.3	-	6	1034	c.894G>A	c.(892-894)caG>caA	p.Q298Q	NUP54_ENST00000458189.2_Silent_p.Q118Q|NUP54_ENST00000514987.1_Silent_p.Q250Q|NUP54_ENST00000515460.1_5'Flank|NUP54_ENST00000342467.6_Silent_p.Q118Q	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	298	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CAGGAGGATTCTGTAAAAGCT	0.368																																						ENST00000264883.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(892-894)caG>caA		nucleoporin 54kDa							172.0	175.0	174.0					4																	77053689		2203	4300	6503	SO:0001819	synonymous_variant	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77053689C>T	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.894G>A	4.37:g.77053689C>T						NUP54_ENST00000514987.1_Silent_p.Q250Q|NUP54_ENST00000458189.2_Silent_p.Q118Q|NUP54_ENST00000342467.6_Silent_p.Q118Q	p.Q298Q	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN			6	1034	-			298			9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Silent	SNP	ENST00000264883.3	37	c.894G>A	CCDS3576.1																																																																																				0.368	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			49	70	0	0	0	1	0	49	70				
TTN	7273	broad.mit.edu	37	2	179645959	179645959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179645959C>A	ENST00000591111.1	-	21	3636	c.3412G>T	c.(3412-3414)Gaa>Taa	p.E1138*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E1138*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E1138*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.E1138*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E1092*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E1092*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E1092*			Q8WZ42	TITIN_HUMAN	titin	33355	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTGCATTCACCGGTTTGT	0.348																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(3412-3414)Gaa>Taa		titin							235.0	203.0	214.0					2																	179645959		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179645959C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3412G>T	2.37:g.179645959C>A	ENSP00000465570:p.Glu1138*					TTN_ENST00000342175.6_Nonsense_Mutation_p.E1092*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E1092*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E1138*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E1138*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E1092*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E1138*	p.E1138*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		21	3636	-			1138			Ig-like 4.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.3412G>T		.	.	.	.	.	.	.	.	.	.	C	44	10.732760	0.99458	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	.	.	.	X	1138;1092;1092;1092;1092;1138	.	ENSP00000340554:E1092X	E	-	1	0	TTN	179354204	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	4.840000	0.62817	2.791000	0.96007	0.650000	0.86243	GAA		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	28	1	0	1.26484e-09	1	1.52852e-09	7	28				
EML5	161436	broad.mit.edu	37	14	89131693	89131693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:89131693G>A	ENST00000380664.5	-	22	3264	c.3265C>T	c.(3265-3267)Cga>Tga	p.R1089*	EML5_ENST00000554922.1_Nonsense_Mutation_p.R1089*|EML5_ENST00000352093.5_Nonsense_Mutation_p.R1051*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1089						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTGAAAATCGAATATCTGAA	0.343																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3265-3267)Cga>Tga		echinoderm microtubule associated protein like 5							39.0	36.0	37.0					14																	89131693		1837	4099	5936	SO:0001587	stop_gained	161436					cytoplasm|microtubule		g.chr14:89131693G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3265C>T	14.37:g.89131693G>A	ENSP00000370039:p.Arg1089*					EML5_ENST00000380664.5_Nonsense_Mutation_p.R1089*|EML5_ENST00000352093.5_Nonsense_Mutation_p.R1051*	p.R1089*	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			22	3513	-			1089					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Nonsense_Mutation	SNP	ENST00000380664.5	37	c.3265C>T	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	45	11.398119	0.99556	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	5.31	2.4	0.29515	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-2.7709	14.0345	0.64636	0.0:0.0:0.6036:0.3964	.	.	.	.	X	1089;1051;1089	.	ENSP00000298315:R1051X	R	-	1	2	EML5	88201446	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	2.213000	0.42844	0.343000	0.23821	-0.181000	0.13052	CGA		0.343	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			8	8	0	0	0	1	0	8	8				
CACNG7	59284	broad.mit.edu	37	19	54418757	54418757	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54418757C>T	ENST00000391767.1	+	4	634	c.422C>T	c.(421-423)tCg>tTg	p.S141L	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Missense_Mutation_p.S141L|CACNG7_ENST00000391766.1_Missense_Mutation_p.S141L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	141					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TTCATACTATCGGGTGAGCCT	0.562																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(421-423)tCg>tTg		calcium channel, voltage-dependent, gamma subunit 7							93.0	85.0	88.0					19																	54418757		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54418757C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.422C>T	19.37:g.54418757C>T	ENSP00000375647:p.Ser141Leu					CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.S141L|CACNG7_ENST00000222212.2_Missense_Mutation_p.S141L	p.S141L			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	4	634	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		141					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.422C>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411317	0.62399	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.91068	-2.78;-2.78;-2.78	3.91	3.91	0.45181	.	0.225588	0.39083	N	0.001476	D	0.94138	0.8120	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	D	0.94605	0.7799	10	0.87932	D	0	-6.3726	14.2221	0.65833	0.0:1.0:0.0:0.0	.	141	P62955	CCG7_HUMAN	L	141	ENSP00000375647:S141L;ENSP00000222212:S141L;ENSP00000375646:S141L	ENSP00000222212:S141L	S	+	2	0	CACNG7	59110569	1.000000	0.71417	0.058000	0.19502	0.453000	0.32348	7.180000	0.77674	2.469000	0.83416	0.563000	0.77884	TCG		0.562	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			16	25	0	0	0	1	0	16	25				
TM9SF3	56889	broad.mit.edu	37	10	98336396	98336396	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:98336396A>C	ENST00000371142.4	-	2	509	c.293T>G	c.(292-294)tTt>tGt	p.F98C		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	98						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CTTACCTTTAAATTTAATATC	0.353																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(292-294)tTt>tGt		transmembrane 9 superfamily member 3							93.0	97.0	96.0					10																	98336396		2203	4300	6503	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98336396A>C	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.293T>G	10.37:g.98336396A>C	ENSP00000360184:p.Phe98Cys						p.F98C	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	509	-		Colorectal(252;0.158)	98					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.293T>G	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387296	0.82902	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.52754	0.65;0.65	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79203	0.4406	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.86820	0.2004	10	0.87932	D	0	-12.8836	14.9572	0.71124	1.0:0.0:0.0:0.0	.	98	Q9HD45	TM9S3_HUMAN	C	98;54	ENSP00000360184:F98C;ENSP00000401152:F54C	ENSP00000360184:F98C	F	-	2	0	TM9SF3	98326386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.757000	0.91657	2.174000	0.68829	0.533000	0.62120	TTT		0.353	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		6	49	0	0	0	1	0	6	49				
ERMP1	79956	broad.mit.edu	37	9	5811254	5811254	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5811254C>T	ENST00000339450.5	-	7	1273	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	ERMP1_ENST00000381506.3_Missense_Mutation_p.R171Q|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	395						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTTTCCATGTCGATACTTAGA	0.393																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1183-1185)cGa>cAa		endoplasmic reticulum metallopeptidase 1							162.0	136.0	145.0					9																	5811254		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5811254C>T	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1184G>A	9.37:g.5811254C>T	ENSP00000340427:p.Arg395Gln					ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R171Q	p.R395Q	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	7	1273	-		Acute lymphoblastic leukemia(23;0.158)	395					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1184G>A	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965742	0.53507	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	T	0.45668	0.89	5.9	-4.89	0.03103	.	0.724542	0.13527	N	0.381236	T	0.34424	0.0897	L	0.52573	1.65	0.45139	D	0.998156	B	0.21309	0.054	B	0.16722	0.016	T	0.36841	-0.9731	10	0.15952	T	0.53	0.1544	19.2734	0.94019	0.0:0.8646:0.0:0.1354	.	395	Q7Z2K6	ERMP1_HUMAN	Q	395;171	ENSP00000340427:R395Q	ENSP00000340427:R395Q	R	-	2	0	ERMP1	5801254	0.682000	0.27624	0.038000	0.18304	0.978000	0.69477	1.326000	0.33735	-0.539000	0.06273	-0.290000	0.09829	CGA		0.393	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		22	74	0	0	0	1	0	22	74				
TESPA1	9840	broad.mit.edu	37	12	55356262	55356262	+	Missense_Mutation	SNP	G	G	A	rs533904016	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55356262G>A	ENST00000449076.1	-	9	1552	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C	TESPA1_ENST00000524622.1_Missense_Mutation_p.R336C|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Missense_Mutation_p.R336C|TESPA1_ENST00000316577.8_Missense_Mutation_p.R474C|TESPA1_ENST00000531122.1_Missense_Mutation_p.R336C	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	474					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											AAAGACCGACGCAGTTCTGGT	0.517													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18925	0.0		0.0	False		,,,				2504	0.0					ENST00000524622.1																			0											c.(1006-1008)Cgt>Tgt		thymocyte expressed, positive selection associated 1							170.0	172.0	171.0					12																	55356262		1949	4162	6111	SO:0001583	missense	9840							g.chr12:55356262G>A	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1420C>T	12.37:g.55356262G>A	ENSP00000400892:p.Arg474Cys					TESPA1_ENST00000316577.8_Missense_Mutation_p.R474C|TESPA1_ENST00000532804.1_Missense_Mutation_p.R336C|TESPA1_ENST00000449076.1_Missense_Mutation_p.R474C|TESPA1_ENST00000531122.1_Missense_Mutation_p.R336C	p.R336C	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			7	1667	-			474					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1006C>T	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	9.822	1.185930	0.21870	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.47869	0.83;0.83;0.84;0.84;0.83	4.42	2.59	0.31030	.	1.125660	0.06567	N	0.747728	T	0.31857	0.0810	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.28170	-1.0052	10	0.87932	D	0	-0.49	6.8312	0.23911	0.2069:0.0:0.7931:0.0	.	474	A2RU30	K0748_HUMAN	C	336;74;336;474;474;336	ENSP00000435622:R336C;ENSP00000432030:R336C;ENSP00000400892:R474C;ENSP00000312679:R474C;ENSP00000433098:R336C	ENSP00000312679:R474C	R	-	1	0	KIAA0748	53642529	0.001000	0.12720	0.001000	0.08648	0.038000	0.13279	0.835000	0.27531	0.799000	0.34018	0.655000	0.94253	CGT		0.517	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		55	119	0	0	0	1	0	55	119				
COL1A2	1278	broad.mit.edu	37	7	94052341	94052341	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94052341G>T	ENST00000297268.6	+	40	2947	c.2476G>T	c.(2476-2478)Ggt>Tgt	p.G826C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	826			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGACCAAGGTCCAGTTGG	0.562										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2476-2478)Ggt>Tgt		collagen, type I, alpha 2	Collagenase(DB00048)						163.0	152.0	155.0					7																	94052341		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052341G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2476G>T	7.37:g.94052341G>T	ENSP00000297268:p.Gly826Cys	HNSCC(75;0.22)					p.G826C	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	2947	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		826		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2476G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251857	0.95336	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99637	-6.29	5.23	5.23	0.72850	.	0.055760	0.64402	D	0.000001	D	0.99813	0.9918	H	0.98276	4.19	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	D	0.96838	0.9616	10	0.87932	D	0	.	19.1875	0.93649	0.0:0.0:1.0:0.0	.	826	P08123	CO1A2_HUMAN	C	826;827	ENSP00000297268:G826C	ENSP00000297268:G826C	G	+	1	0	COL1A2	93890277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.624000	0.98398	2.614000	0.88457	0.563000	0.77884	GGT		0.562	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		44	71	1	0	1.15505e-17	1	1.55342e-17	44	71				
CSMD1	64478	broad.mit.edu	37	8	2796122	2796122	+	Silent	SNP	G	G	T	rs372725413		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:2796122G>T	ENST00000520002.1	-	71	11238	c.10683C>A	c.(10681-10683)gtC>gtA	p.V3561V	CSMD1_ENST00000400186.3_Silent_p.V3384V|CSMD1_ENST00000602723.1_Silent_p.V3384V|CSMD1_ENST00000602557.1_Silent_p.V3561V|CSMD1_ENST00000542608.1_Silent_p.V3383V|CSMD1_ENST00000537824.1_Silent_p.V3560V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3561						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACTGTACAGACTGTGTTCA	0.468																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(10681-10683)gtC>gtA		CUB and Sushi multiple domains 1							200.0	187.0	191.0					8																	2796122		1982	4156	6138	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2796122G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10683C>A	8.37:g.2796122G>T						CSMD1_ENST00000602723.1_Silent_p.V3384V|CSMD1_ENST00000400186.3_Silent_p.V3384V|CSMD1_ENST00000602557.1_Silent_p.V3561V|CSMD1_ENST00000537824.1_Silent_p.V3560V|CSMD1_ENST00000542608.1_Silent_p.V3383V	p.V3561V			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	71	11238	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3561					Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.10683C>A		.	.	.	.	.	.	.	.	.	.	G	8.556	0.876604	0.17395	.	.	ENSG00000183117	ENST00000335551	.	.	.	6.07	-2.55	0.06288	.	.	.	.	.	T	0.56934	0.2019	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53464	-0.8435	4	.	.	.	.	11.3797	0.49750	0.195:0.432:0.373:0.0	.	.	.	.	M	2963	.	.	L	-	1	2	CSMD1	2783529	0.931000	0.31567	0.931000	0.37212	0.978000	0.69477	0.025000	0.13577	-0.729000	0.04875	-0.211000	0.12701	CTG		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	14	1	0	1	1	1	3	14				
ARHGAP24	83478	broad.mit.edu	37	4	86844806	86844806	+	Missense_Mutation	SNP	G	G	A	rs571519833		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:86844806G>A	ENST00000395184.1	+	4	740	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.D92N|ARHGAP24_ENST00000395183.2_5'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CACAGGAGGCGATCGAGATCG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17247	0.0		0.0	False		,,,				2504	0.0					ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(274-276)Gat>Aat		Rho GTPase activating protein 24							81.0	75.0	77.0					4																	86844806		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86844806G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.274G>A	4.37:g.86844806G>A	ENSP00000378611:p.Asp92Asn					ARHGAP24_ENST00000395183.2_5'UTR|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.D92N	p.D92N	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	4	740	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	92			PH.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.274G>A	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.608212	0.87258	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000514229	T;T;T	0.74947	-0.89;-0.89;2.28	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.045412	0.85682	D	0.000000	T	0.72293	0.3442	L	0.29908	0.895	0.80722	D	1	D;B	0.54207	0.965;0.325	P;B	0.48552	0.581;0.052	T	0.68503	-0.5391	10	0.29301	T	0.29	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	92;92	Q8N264;Q8N264-4	RHG24_HUMAN;.	N	92;92;7	ENSP00000378611:D92N;ENSP00000423206:D92N;ENSP00000425589:D7N	ENSP00000378611:D92N	D	+	1	0	ARHGAP24	87063830	1.000000	0.71417	0.781000	0.31783	0.547000	0.35210	7.990000	0.88215	2.854000	0.98071	0.655000	0.94253	GAT		0.483	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		9	23	0	0	0	1	0	9	23				
LOC101927209	101927209	broad.mit.edu	37	1	142713945	142713945	+	lincRNA	SNP	G	G	A	rs556391324	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:142713945G>A	ENST00000610091.1	-	0	1713																											GATTACCTCCGAAGTTAAAGA	0.313													.|||	3	0.000599042	0.0008	0.0	5008	,	,		19795	0.0		0.001	False		,,,				2504	0.001					ENST00000369381.2																			0																																																			0							g.chr1:142713945G>A																													1.37:g.142713945G>A														0	660	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.313	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			11	15	0	0	0	1	0	11	15				
SUSD4	55061	broad.mit.edu	37	1	223402693	223402693	+	Missense_Mutation	SNP	G	G	T	rs572108456		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223402693G>T	ENST00000343846.3	-	5	1395	c.762C>A	c.(760-762)ttC>ttA	p.F254L	SUSD4_ENST00000494793.2_Missense_Mutation_p.F254L|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Missense_Mutation_p.F185L|SUSD4_ENST00000454695.2_Missense_Mutation_p.F94L|SUSD4_ENST00000366878.4_Missense_Mutation_p.F254L			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	254	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTGGCAGACGAAATCTCCGT	0.527																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(760-762)ttC>ttA		sushi domain containing 4							62.0	68.0	66.0					1																	223402693		2120	4248	6368	SO:0001583	missense	55061					integral to membrane		g.chr1:223402693G>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.762C>A	1.37:g.223402693G>T	ENSP00000344219:p.Phe254Leu					SUSD4_ENST00000366878.4_Missense_Mutation_p.F254L|SUSD4_ENST00000454695.2_Missense_Mutation_p.F94L|SUSD4_ENST00000478605.1_Intron	p.F254L			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	5	1395	-			254			Sushi 4.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.762C>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204852	0.79127	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.61274	0.12;0.12;0.12	5.83	4.74	0.60224	Complement control module (2);Sushi/SCR/CCP (3);	0.285875	0.25581	N	0.029689	T	0.51805	0.1696	L	0.46157	1.445	0.80722	D	1	P	0.37370	0.592	B	0.39217	0.294	T	0.44003	-0.9356	10	0.18276	T	0.48	-22.4262	15.8135	0.78581	0.0753:0.0:0.9247:0.0	.	254	Q5VX71	SUSD4_HUMAN	L	254;254;185;94	ENSP00000344219:F254L;ENSP00000355843:F254L;ENSP00000399288:F94L	ENSP00000344219:F254L	F	-	3	2	SUSD4	221469316	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	1.712000	0.37940	2.767000	0.95098	0.655000	0.94253	TTC		0.527	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		20	24	1	0	2.94398e-08	1	3.45884e-08	20	24				
HECW2	57520	broad.mit.edu	37	2	197183699	197183699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197183699C>T	ENST00000260983.3	-	9	2097	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	HECW2_ENST00000409111.1_Missense_Mutation_p.E283K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	639					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCAGCGCATTCCAGGTCACTC	0.587																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1915-1917)Gaa>Aaa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							98.0	75.0	83.0					2																	197183699		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183699C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1915G>A	2.37:g.197183699C>T	ENSP00000260983:p.Glu639Lys					HECW2_ENST00000409111.1_Missense_Mutation_p.E283K	p.E639K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	2097	-			639					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1915G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407475	0.62399	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.34072	1.38;1.42	5.4	5.4	0.78164	.	0.399136	0.25241	N	0.032084	T	0.27419	0.0673	N	0.19112	0.55	0.40758	D	0.982972	B	0.26635	0.155	B	0.18263	0.021	T	0.07927	-1.0747	10	0.59425	D	0.04	.	17.5244	0.87795	0.0:1.0:0.0:0.0	.	639	Q9P2P5	HECW2_HUMAN	K	283;639	ENSP00000386775:E283K;ENSP00000260983:E639K	ENSP00000260983:E639K	E	-	1	0	HECW2	196891944	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	5.154000	0.64894	2.813000	0.96785	0.561000	0.74099	GAA		0.587	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		12	31	0	0	0	1	0	12	31				
SYCP1	6847	broad.mit.edu	37	1	115487508	115487508	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:115487508G>T	ENST00000369522.3	+	25	2299	c.2059G>T	c.(2059-2061)Gta>Tta	p.V687L	SYCP1_ENST00000369518.1_Missense_Mutation_p.V687L	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	687					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAGCAAAAGTAATAGCTGA	0.264																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2059-2061)Gta>Tta		synaptonemal complex protein 1							35.0	36.0	35.0					1																	115487508		2199	4275	6474	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115487508G>T	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2059G>T	1.37:g.115487508G>T	ENSP00000358535:p.Val687Leu					SYCP1_ENST00000369518.1_Missense_Mutation_p.V687L	p.V687L	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	2299	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	687					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2059G>T	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	7.733	0.699703	0.15106	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.48522	0.81;0.81;0.81	4.91	1.08	0.20341	.	1.392340	0.04212	N	0.331914	T	0.13798	0.0334	L	0.38531	1.155	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.09885	-1.0654	10	0.25751	T	0.34	-0.8368	1.5253	0.02524	0.2514:0.1216:0.4473:0.1797	.	687;687	B7ZLS9;Q15431	.;SYCP1_HUMAN	L	687	ENSP00000358535:V687L;ENSP00000410011:V687L;ENSP00000358531:V687L	ENSP00000358531:V687L	V	+	1	0	SYCP1	115289031	0.856000	0.29760	0.650000	0.29550	0.980000	0.70556	0.443000	0.21644	0.326000	0.23384	0.650000	0.86243	GTA		0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		6	18	1	0	3.59834e-05	1	3.93264e-05	6	18				
GJA3	2700	broad.mit.edu	37	13	20717426	20717426	+	Start_Codon_SNP	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:20717426A>G	ENST00000241125.3	-	2	178	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	1					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CCAGTCGCCCATTGCTTCAGA	0.577																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(1-3)aTg>aCg		gap junction protein, alpha 3, 46kDa							29.0	28.0	28.0					13																	20717426		2203	4300	6503	SO:0001582	initiator_codon_variant	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20717426A>G	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.2T>C	13.37:g.20717426A>G	ENSP00000241125:p.Met1Thr						p.M1T	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	178	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	1					Q0VAB7|Q9H537	Translation_Start_Site	SNP	ENST00000241125.3	37	c.2T>C	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.764295	0.49574	.	.	ENSG00000121743	ENST00000241125	D	0.99338	-5.76	5.45	5.45	0.79879	.	0.090019	0.64402	D	0.000001	D	0.99396	0.9787	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98816	1.0745	9	0.87932	D	0	.	15.5133	0.75802	1.0:0.0:0.0:0.0	.	1	Q9Y6H8	CXA3_HUMAN	T	1	ENSP00000241125:M1T	ENSP00000241125:M1T	M	-	2	0	GJA3	19615426	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	9.213000	0.95133	2.068000	0.61886	0.459000	0.35465	ATG		0.577	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954	Missense_Mutation	3	21	0	0	0	1	0	3	21				
RNF219	79596	broad.mit.edu	37	13	79213182	79213182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:79213182C>A	ENST00000282003.6	-	4	383	c.325G>T	c.(325-327)Gaa>Taa	p.E109*		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	109							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCTTCTACTTCTTTCTGTAAA	0.383																																						ENST00000282003.6																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32						c.(325-327)Gaa>Taa		ring finger protein 219							79.0	79.0	79.0					13																	79213182		2203	4299	6502	SO:0001587	stop_gained	79596						zinc ion binding	g.chr13:79213182C>A	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.325G>T	13.37:g.79213182C>A	ENSP00000282003:p.Glu109*						p.E109*	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	4	383	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	109					B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Nonsense_Mutation	SNP	ENST00000282003.6	37	c.325G>T	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	C	36	5.805136	0.96967	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-8.3052	19.1669	0.93561	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000282003:E109X	E	-	1	0	RNF219	78111183	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.960000	0.76036	2.515000	0.84797	0.655000	0.94253	GAA		0.383	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		11	38	1	0	3.86212e-05	1	4.21111e-05	11	38				
HGFAC	3083	broad.mit.edu	37	4	3449289	3449289	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3449289A>C	ENST00000382774.3	+	11	1541	c.1426A>C	c.(1426-1428)Acc>Ccc	p.T476P	HGFAC_ENST00000511533.1_Missense_Mutation_p.T483P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	476	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGTGACGCAGACCTTCGGCAT	0.647																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(1426-1428)Acc>Ccc		HGF activator							206.0	180.0	189.0					4																	3449289		2203	4300	6503	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449289A>C	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1426A>C	4.37:g.3449289A>C	ENSP00000372224:p.Thr476Pro					HGFAC_ENST00000511533.1_Missense_Mutation_p.T483P	p.T476P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	11	1541	+			476			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1426A>C	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317167	0.40996	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88896	-2.44;-2.44	3.59	-2.03	0.07365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.450124	0.22137	N	0.064105	D	0.86818	0.6024	L	0.37507	1.11	0.48341	D	0.999632	D;P	0.62365	0.991;0.676	D;B	0.64506	0.926;0.195	T	0.81649	-0.0837	10	0.48119	T	0.1	.	4.2164	0.10537	0.5591:0.0:0.2929:0.148	.	483;476	D6RAR4;Q04756	.;HGFA_HUMAN	P	476;483	ENSP00000372224:T476P;ENSP00000421801:T483P	ENSP00000372224:T476P	T	+	1	0	HGFAC	3419087	0.000000	0.05858	0.053000	0.19242	0.174000	0.22865	-0.056000	0.11787	-0.111000	0.12001	0.459000	0.35465	ACC		0.647	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			123	256	0	0	0	1	0	123	256				
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378																																						ENST00000545588.1																			3	Substitution - Nonsense(3)	p.S805*(3)	endometrium(2)|lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2413-2415)tCa>tGa		zinc finger CCCH-type containing 11A																																				SO:0001587	stop_gained	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821508C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2414C>G	1.37:g.203821508C>G	ENSP00000438527:p.Ser805*					ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*	p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6241	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		805					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP	ENST00000545588.1	37	c.2414C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	40	8.446087	0.98815	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.9	4.99	0.66335	.	0.140252	0.49916	D	0.000132	.	.	.	.	.	.	0.45172	D	0.998181	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.7509	15.4578	0.75330	0.14:0.86:0.0:0.0	.	.	.	.	X	805;751;805;805;805;805	.	ENSP00000333253:S805X	S	+	2	0	ZC3H11A	202088131	1.000000	0.71417	0.920000	0.36463	0.858000	0.48976	6.206000	0.72154	1.492000	0.48499	-0.175000	0.13238	TCA		0.378	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		5	35	0	0	0	1	0	5	35				
POLR2B	5431	broad.mit.edu	37	4	57883789	57883789	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57883789T>G	ENST00000381227.1	+	17	2631	c.2218T>G	c.(2218-2220)Ttc>Gtc	p.F740V	POLR2B_ENST00000441246.2_Missense_Mutation_p.F733V|POLR2B_ENST00000314595.5_Missense_Mutation_p.F740V|POLR2B_ENST00000431623.2_Missense_Mutation_p.F665V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	740					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CATCACCAACTTCCATGTTCG	0.423																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2218-2220)Ttc>Gtc		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							142.0	122.0	129.0					4																	57883789		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57883789T>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2218T>G	4.37:g.57883789T>G	ENSP00000370625:p.Phe740Val					POLR2B_ENST00000314595.5_Missense_Mutation_p.F740V|POLR2B_ENST00000431623.2_Missense_Mutation_p.F665V|POLR2B_ENST00000441246.2_Missense_Mutation_p.F733V	p.F740V			P30876	RPB2_HUMAN			17	2631	+	Glioma(25;0.08)|all_neural(26;0.181)		740					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2218T>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.912081	0.92178	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.23	5.23	0.72850	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	L	0.60012	1.86	0.80722	D	1	D;D	0.54397	0.966;0.966	P;P	0.56216	0.794;0.794	T	0.79799	-0.1651	10	0.56958	D	0.05	.	15.1017	0.72284	0.0:0.0:0.0:1.0	.	665;740	C9J4M6;P30876	.;RPB2_HUMAN	V	740;665;733;740	ENSP00000370625:F740V;ENSP00000391096:F665V;ENSP00000391452:F733V;ENSP00000312735:F740V	ENSP00000312735:F740V	F	+	1	0	POLR2B	57578546	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	8.036000	0.88901	1.972000	0.57404	0.379000	0.24179	TTC		0.423	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		5	15	0	0	0	1	0	5	15				
CHD8	57680	broad.mit.edu	37	14	21870219	21870219	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21870219T>C	ENST00000557364.1	-	20	4222	c.3959A>G	c.(3958-3960)gAt>gGt	p.D1320G	CHD8_ENST00000430710.3_Missense_Mutation_p.D1041G|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000399982.2_Missense_Mutation_p.D1320G			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1320					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGAGCCTTCATCATCTTCCTC	0.393																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(3958-3960)gAt>gGt		chromodomain helicase DNA binding protein 8							145.0	139.0	141.0					14																	21870219		2034	4225	6259	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870219T>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3959A>G	14.37:g.21870219T>C	ENSP00000451601:p.Asp1320Gly					CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.D1320G|CHD8_ENST00000430710.3_Missense_Mutation_p.D1041G	p.D1320G	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	19	4023	-	all_cancers(95;0.00121)		1320					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.3959A>G	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.292267|4.292267	0.80914|0.80914	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.84589|.	-1.87;-1.87;-1.87|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69860|.	0.3158|.	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	D;D|.	0.62365|.	0.973;0.991|.	P;D|.	0.69824|.	0.877;0.966|.	T|.	0.67436|.	-0.5671|.	10|.	0.35671|.	T|.	0.21|.	-11.2676|-11.2676	15.8048|15.8048	0.78491|0.78491	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1320;1041|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	G|W	1041;1320;1040;1320|545	ENSP00000406288:D1041G;ENSP00000382863:D1320G;ENSP00000451601:D1320G|.	ENSP00000262707:D1040G|.	D|X	-|-	2|3	0|0	CHD8|CHD8	20940059|20940059	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.997000|7.997000	0.88414|0.88414	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.393	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		33	43	0	0	0	1	0	33	43				
RP1	6101	broad.mit.edu	37	8	55541339	55541339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55541339G>T	ENST00000220676.1	+	4	5045	c.4897G>T	c.(4897-4899)Gaa>Taa	p.E1633*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1633					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGGCAATAGAAAAACTGTA	0.383																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4897-4899)Gaa>Taa		retinitis pigmentosa 1 (autosomal dominant)							85.0	88.0	87.0					8																	55541339		2203	4299	6502	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541339G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4897G>T	8.37:g.55541339G>T	ENSP00000220676:p.Glu1633*						p.E1633*	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5045	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1633						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.4897G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	45	11.359758	0.99551	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.74	5.74	0.90152	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.1167	19.9351	0.97137	0.0:0.0:1.0:0.0	.	.	.	.	X	1633	.	ENSP00000220676:E1633X	E	+	1	0	RP1	55703892	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.607000	0.82883	2.703000	0.92315	0.655000	0.94253	GAA		0.383	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		29	62	1	0	1.68575e-08	1	1.99097e-08	29	62				
ANO6	196527	broad.mit.edu	37	12	45740823	45740823	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45740823G>A	ENST00000320560.8	+	4	500	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ANO6_ENST00000435642.1_Missense_Mutation_p.E100K|ANO6_ENST00000425752.2_Missense_Mutation_p.E100K|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.E121K|ANO6_ENST00000441606.2_Missense_Mutation_p.E82K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	100					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACAAGCATACGAATCTAACCT	0.393																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(298-300)Gaa>Aaa		anoctamin 6							157.0	143.0	148.0					12																	45740823		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45740823G>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.298G>A	12.37:g.45740823G>A	ENSP00000320087:p.Glu100Lys					ANO6_ENST00000425752.2_Missense_Mutation_p.E100K|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.E100K|ANO6_ENST00000441606.2_Missense_Mutation_p.E82K|ANO6_ENST00000423947.3_Missense_Mutation_p.E121K	p.E100K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			4	500	+			100					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.298G>A	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954443	0.73902	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.81819	0.4903	M	0.88241	2.94	0.53005	D	0.999967	D;P;D;D	0.76494	0.999;0.939;0.982;0.989	P;B;B;P	0.62649	0.905;0.393;0.383;0.563	D	0.84068	0.0378	10	0.56958	D	0.05	.	13.2894	0.60262	0.0:0.1592:0.8408:0.0	.	82;121;100;100	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	K	100;121;100;100;82	ENSP00000391417:E100K;ENSP00000409126:E121K;ENSP00000413840:E100K;ENSP00000320087:E100K;ENSP00000413137:E82K	ENSP00000320087:E100K	E	+	1	0	ANO6	44027090	1.000000	0.71417	0.953000	0.39169	0.911000	0.54048	4.265000	0.58865	2.797000	0.96272	0.563000	0.77884	GAA		0.393	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		4	51	0	0	0	1	0	4	51				
GPR158	57512	broad.mit.edu	37	10	25887693	25887693	+	Missense_Mutation	SNP	G	G	T	rs370053624	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25887693G>T	ENST00000376351.3	+	11	3497	c.3138G>T	c.(3136-3138)gaG>gaT	p.E1046D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1046					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTTAAAGGAGAAATCTCACC	0.463													G|||	2	0.000399361	0.0	0.0	5008	,	,		19775	0.002		0.0	False		,,,				2504	0.0					ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3136-3138)gaG>gaT		G protein-coupled receptor 158							81.0	81.0	81.0					10																	25887693		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887693G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3138G>T	10.37:g.25887693G>T	ENSP00000365529:p.Glu1046Asp					GPR158_ENST00000490549.1_3'UTR	p.E1046D	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3497	+			1046					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3138G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	9.401	1.077892	0.20227	.	.	ENSG00000151025	ENST00000376351	T	0.35048	1.33	5.27	1.19	0.21007	.	0.387573	0.25014	N	0.033819	T	0.21962	0.0529	L	0.50333	1.59	0.18873	N	0.999981	B	0.31817	0.341	B	0.25614	0.062	T	0.12477	-1.0546	10	0.22109	T	0.4	.	1.9547	0.03374	0.1407:0.2455:0.3618:0.252	.	1046	Q5T848	GP158_HUMAN	D	1046	ENSP00000365529:E1046D	ENSP00000365529:E1046D	E	+	3	2	GPR158	25927699	0.985000	0.35326	0.334000	0.25495	0.997000	0.91878	0.243000	0.18106	-0.047000	0.13423	0.655000	0.94253	GAG		0.463	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		23	59	1	0	1.85244e-09	1	2.22951e-09	23	59				
NAA16	79612	broad.mit.edu	37	13	41933048	41933048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41933048C>T	ENST00000379406.3	+	12	1684	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	NAA16_ENST00000379367.3_Nonsense_Mutation_p.R454*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	454					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.R454*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ATACATGCTTCGAGCAAATAT	0.378																																						ENST00000379406.3																			1	Substitution - Nonsense(1)	p.R454*(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1360-1362)Cga>Tga		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							99.0	100.0	100.0					13																	41933048		2203	4300	6503	SO:0001587	stop_gained	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41933048C>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1360C>T	13.37:g.41933048C>T	ENSP00000368716:p.Arg454*					NAA16_ENST00000379367.3_Nonsense_Mutation_p.R454*	p.R454*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			12	1684	+			454					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Nonsense_Mutation	SNP	ENST00000379406.3	37	c.1360C>T	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	C	37	6.430056	0.97559	.	.	ENSG00000172766	ENST00000379367;ENST00000379406	.	.	.	4.91	4.06	0.47325	.	0.000000	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0544	12.3984	0.55399	0.306:0.694:0.0:0.0	.	.	.	.	X	454	.	ENSP00000368674:R454X	R	+	1	2	NAA16	40831048	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	2.380000	0.44327	1.031000	0.39867	-0.314000	0.08810	CGA		0.378	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		25	48	0	0	0	1	0	25	48				
UBASH3B	84959	broad.mit.edu	37	11	122647912	122647912	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:122647912C>A	ENST00000284273.5	+	3	771	c.396C>A	c.(394-396)ttC>ttA	p.F132L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	132					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TCTGCCAGTTCTTTATGGTGA	0.592																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(394-396)ttC>ttA		ubiquitin associated and SH3 domain containing B							64.0	58.0	60.0					11																	122647912		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122647912C>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.396C>A	11.37:g.122647912C>A	ENSP00000284273:p.Phe132Leu						p.F132L	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	3	771	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	132					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.396C>A	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360533	0.82353	.	.	ENSG00000154127	ENST00000284273	T	0.33438	1.41	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.76838	2.35	0.80722	D	1	D	0.65815	0.995	D	0.70227	0.968	T	0.57717	-0.7763	10	0.66056	D	0.02	-9.7807	12.1578	0.54087	0.0:0.9209:0.0:0.0791	.	132	Q8TF42	UBS3B_HUMAN	L	132	ENSP00000284273:F132L	ENSP00000284273:F132L	F	+	3	2	UBASH3B	122153122	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.907000	0.56348	2.494000	0.84150	0.655000	0.94253	TTC		0.592	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		12	25	1	0	4.3838e-07	1	4.998e-07	12	25				
SH3YL1	26751	broad.mit.edu	37	2	218858	218858	+	Nonsense_Mutation	SNP	G	G	A	rs186175944		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:218858G>A	ENST00000405430.1	-	12	1358	c.982C>T	c.(982-984)Cga>Tga	p.R328*	SH3YL1_ENST00000403658.1_Nonsense_Mutation_p.R213*|SH3YL1_ENST00000356150.5_Nonsense_Mutation_p.R328*|SH3YL1_ENST00000403712.2_Nonsense_Mutation_p.R309*|SH3YL1_ENST00000415006.2_Nonsense_Mutation_p.R232*|SH3YL1_ENST00000403657.1_Nonsense_Mutation_p.R213*|SH3YL1_ENST00000468321.1_5'UTR			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	328	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)			large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		GTTTGACCTCGAAGTTTTCCT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		17149	0.0		0.001	False		,,,				2504	0.0					ENST00000403657.1																			0				large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7						c.(637-639)Cga>Tga		SH3 and SYLF domain containing 1							127.0	118.0	121.0					2																	218858		1851	4091	5942	SO:0001587	stop_gained	26751							g.chr2:218858G>A		CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"""SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"""			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.982C>T	2.37:g.218858G>A	ENSP00000384269:p.Arg328*					SH3YL1_ENST00000403712.2_Nonsense_Mutation_p.R309*|SH3YL1_ENST00000405430.1_Nonsense_Mutation_p.R328*|SH3YL1_ENST00000415006.2_Nonsense_Mutation_p.R232*|SH3YL1_ENST00000403658.1_Nonsense_Mutation_p.R213*|SH3YL1_ENST00000356150.5_Nonsense_Mutation_p.R328*|SH3YL1_ENST00000468321.1_5'UTR	p.R213*			Q96HL8	SH3Y1_HUMAN		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)	12	2832	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)	328					A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Nonsense_Mutation	SNP	ENST00000405430.1	37	c.637C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.682699	0.96774	.	.	ENSG00000035115	ENST00000415006;ENST00000403712;ENST00000403657;ENST00000405430;ENST00000356150;ENST00000403658;ENST00000451005	.	.	.	6.03	5.14	0.70334	.	0.418604	0.24029	N	0.042219	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-6.2242	12.1146	0.53858	0.0:0.0:0.6885:0.3115	.	.	.	.	X	232;309;213;328;328;213;241	.	ENSP00000348471:R328X	R	-	1	2	SH3YL1	208858	0.997000	0.39634	0.992000	0.48379	0.967000	0.64934	1.665000	0.37449	1.500000	0.48636	0.655000	0.94253	CGA		0.358	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322352.1	NM_015677		18	26	0	0	0	1	0	18	26				
MYO18B	84700	broad.mit.edu	37	22	26400763	26400763	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26400763G>T	ENST00000407587.2	+	42	6584	c.6415G>T	c.(6415-6417)Gat>Tat	p.D2139Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2138Y|MYO18B_ENST00000335473.7_Missense_Mutation_p.D2138Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2138						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTGGCCACAGATACTATGAG	0.552																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6412-6414)Gat>Tat		myosin XVIIIB							97.0	101.0	99.0					22																	26400763		2132	4264	6396	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26400763G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6415G>T	22.37:g.26400763G>T	ENSP00000386096:p.Asp2139Tyr					MYO18B_ENST00000536101.1_Missense_Mutation_p.D2138Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.D2139Y	p.D2138Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			42	6662	+			2138					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6412G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.66|12.66	2.004233|2.004233	0.35320|0.35320	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.88277|.	-2.34;-2.34;-2.36|.	4.33|4.33	3.28|3.28	0.37604|0.37604	.|.	0.623793|.	0.14161|.	N|.	0.337368|.	T|T	0.45074|0.45074	0.1324|0.1324	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.999;0.999|.	D;P;P;D;D|.	0.66847|.	0.935;0.887;0.887;0.947;0.947|.	T|T	0.28650|0.28650	-1.0037|-1.0037	10|5	0.72032|.	D|.	0.01|.	.|.	8.2494|8.2494	0.31708|0.31708	0.1114:0.0:0.8886:0.0|0.1114:0.0:0.8886:0.0	.|.	1651;2140;2138;2139;2138|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	Y|H	2138;2138;2139|87	ENSP00000441229:D2138Y;ENSP00000334563:D2138Y;ENSP00000386096:D2139Y|.	ENSP00000334563:D2138Y|.	D|Q	+|+	1|3	0|2	MYO18B|MYO18B	24730763|24730763	0.294000|0.294000	0.24380|0.24380	0.624000|0.624000	0.29186|0.29186	0.411000|0.411000	0.31082|0.31082	2.170000|2.170000	0.42443|0.42443	2.246000|2.246000	0.74042|0.74042	0.650000|0.650000	0.86243|0.86243	GAT|CAG		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		9	101	1	0	1.76689e-08	1	2.08373e-08	9	101				
PHYKPL	85007	broad.mit.edu	37	5	177634126	177634126	+	IGR	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:177634126A>C	ENST00000308158.5	-	0	2038				HNRNPAB_ENST00000358344.3_Missense_Mutation_p.K190T|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.K190T|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.K190T|PHYKPL_ENST00000481811.1_5'Flank	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	ATGGATCCAAAGTTGAACAAA	0.443																																						ENST00000358344.3																			0				large_intestine(4)|prostate(1)|urinary_tract(1)	6						c.(568-570)aAg>aCg		heterogeneous nuclear ribonucleoprotein A/B							127.0	124.0	125.0					5																	177634126		2203	4300	6503	SO:0001628	intergenic_variant	3182				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr5:177634126A>C	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892		5.37:g.177634126A>C						HNRNPAB_ENST00000504898.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.K190T|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.K190T	p.K190T	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN			5	826	+			190			RRM 2.		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.569A>C	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660881	0.67700	.	.	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000355836;ENST00000514633;ENST00000515193;ENST00000506259;ENST00000504898	D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	N	0.13327	0.33	0.58432	D	0.999999	P;P;P	0.38048	0.616;0.562;0.562	P;B;B	0.48334	0.574;0.439;0.439	T	0.77395	-0.2604	10	0.26408	T	0.33	.	12.3043	0.54893	1.0:0.0:0.0:0.0	.	190;190;190	D6RD18;Q99729-3;Q99729-2	.;.;.	T	190	ENSP00000351108:K190T;ENSP00000422501:K190T;ENSP00000348093:K190T;ENSP00000427110:K190T;ENSP00000423495:K190T;ENSP00000427465:K190T;ENSP00000425031:K190T	ENSP00000348093:K190T	K	+	2	0	HNRNPAB	177566732	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	8.797000	0.91882	1.787000	0.52448	0.379000	0.24179	AAG		0.443	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		33	58	0	0	0	1	0	33	58				
PBLD	64081	broad.mit.edu	37	10	70045061	70045061	+	Intron	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70045061C>T	ENST00000358769.2	-	9	957				PBLD_ENST00000432941.1_Silent_p.S266S|PBLD_ENST00000336578.1_Intron|PBLD_ENST00000495025.2_Silent_p.S266S|PBLD_ENST00000309049.4_Intron	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing						biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACACTAGCTTCGAATTAGGCA	0.398																																						ENST00000432941.1																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(796-798)tcG>tcA		phenazine biosynthesis-like protein domain containing							76.0	79.0	78.0					10																	70045061		2203	4300	6503	SO:0001627	intron_variant	64081				biosynthetic process		isomerase activity	g.chr10:70045061C>T	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.754+43G>A	10.37:g.70045061C>T						PBLD_ENST00000336578.1_Intron|PBLD_ENST00000309049.4_Intron|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000358769.2_Intron	p.S266S	NM_001033083.1	NP_001028255.1	P30039	PBLD_HUMAN			9	1000	-			0					A8MZJ3|C9JIM0|Q9HCC2	Silent	SNP	ENST00000358769.2	37	c.798G>A	CCDS7277.2																																																																																				0.398	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		21	35	0	0	0	1	0	21	35				
ZSCAN30	100101467	broad.mit.edu	37	18	32844236	32844236	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32844236T>A	ENST00000420878.3	-	3	536	c.81A>T	c.(79-81)gaA>gaT	p.E27D	ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000601405.1_Missense_Mutation_p.E27D|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.E27D|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.E27D|ZSCAN30_ENST00000589178.1_Missense_Mutation_p.E27D|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.E27D	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	27					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(3)|urinary_tract(1)	9						AAACATAATTTTCTTCTTCAA	0.488																																						ENST00000420878.3																			0				large_intestine(5)|lung(3)|urinary_tract(1)	9						c.(79-81)gaA>gaT		zinc finger and SCAN domain containing 30							50.0	50.0	50.0					18																	32844236		1568	3582	5150	SO:0001583	missense	100101467				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32844236T>A	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.81A>T	18.37:g.32844236T>A	ENSP00000392371:p.Glu27Asp					ZSCAN30_ENST00000589178.1_Missense_Mutation_p.E27D|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.E27D|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.E27D|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.E27D|ZSCAN30_ENST00000601405.1_Missense_Mutation_p.E27D	p.E27D	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN			3	536	-			27					B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP	ENST00000420878.3	37	c.81A>T	CCDS42427.1	.	.	.	.	.	.	.	.	.	.	T	9.110	1.006301	0.19199	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000383091	T;T;T	0.08102	3.13;3.13;4.16	4.49	-3.53	0.04667	.	.	.	.	.	T	0.05273	0.0140	N	0.20304	0.555	0.22500	N	0.999048	P;P	0.52842	0.818;0.956	B;B	0.43123	0.219;0.409	T	0.39251	-0.9623	9	0.20046	T	0.44	.	10.81	0.46540	0.0:0.1337:0.0:0.8663	.	27;27	C9JCM2;Q86W11	.;ZSC30_HUMAN	D	27	ENSP00000392371:E27D;ENSP00000329738:E27D;ENSP00000372569:E27D	ENSP00000329738:E27D	E	-	3	2	ZSCAN30	31098234	0.001000	0.12720	0.392000	0.26245	0.926000	0.56050	-1.310000	0.02725	-0.605000	0.05753	-0.261000	0.10672	GAA		0.488	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734		23	33	0	0	0	1	0	23	33				
ABCA8	10351	broad.mit.edu	37	17	66872602	66872602	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66872602A>G	ENST00000269080.2	-	33	4386	c.4249T>C	c.(4249-4251)Tgg>Cgg	p.W1417R	ABCA8_ENST00000586539.1_Splice_Site_p.W1457R|ABCA8_ENST00000430352.2_Splice_Site_p.W1457R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1417	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTTCCTCACCACATTTGCTGC	0.527																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.e33+1		ATP-binding cassette, sub-family A (ABC1), member 8							109.0	101.0	104.0					17																	66872602		2203	4300	6503	SO:0001630	splice_region_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66872602A>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4250+1T>C	17.37:g.66872602A>G						ABCA8_ENST00000430352.2_Splice_Site_p.W1457_splice|ABCA8_ENST00000586539.1_Splice_Site_p.W1457_splice	p.W1417_splice	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			33	4386	-	Breast(10;4.56e-13)		1417			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Splice_Site	SNP	ENST00000269080.2	37	c.4250_splice	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.540739	0.65085	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.97575	-4.44;-4.44	3.81	2.68	0.31781	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.43260	D	0.000597	D	0.96642	0.8904	L	0.35723	1.085	0.50467	D	0.999879	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95496	0.8573	10	0.87932	D	0	.	8.7813	0.34794	0.831:0.0:0.0:0.169	.	1457;1457;1417	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	R	1417;1457	ENSP00000269080:W1417R;ENSP00000402814:W1457R	ENSP00000269080:W1417R	W	-	1	0	ABCA8	64384197	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	5.697000	0.68295	0.600000	0.29862	0.533000	0.62120	TGG		0.527	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	Missense_Mutation	5	94	0	0	0	1	0	5	94				
MCM6	4175	broad.mit.edu	37	2	136598517	136598517	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:136598517T>C	ENST00000264156.2	-	17	2414	c.2354A>G	c.(2353-2355)cAt>cGt	p.H785R		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	785					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		AATTAGAACATGATCCTGTGA	0.423																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(2353-2355)cAt>cGt		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						97.0	89.0	92.0					2																	136598517		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136598517T>C		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.2354A>G	2.37:g.136598517T>C	ENSP00000264156:p.His785Arg						p.H785R	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	17	2414	-			785					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.2354A>G	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864637	0.32977	.	.	ENSG00000076003	ENST00000264156	T	0.02890	4.12	5.25	5.25	0.73442	.	0.097389	0.64402	D	0.000001	T	0.05593	0.0147	M	0.71581	2.175	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27606	-1.0069	10	0.25106	T	0.35	-16.7301	15.1112	0.72359	0.0:0.0:0.0:1.0	.	785	Q14566	MCM6_HUMAN	R	785	ENSP00000264156:H785R	ENSP00000264156:H785R	H	-	2	0	MCM6	136314987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.453000	0.80700	2.106000	0.64143	0.528000	0.53228	CAT		0.423	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		21	28	0	0	0	1	0	21	28				
MIER1	57708	broad.mit.edu	37	1	67423799	67423799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67423799C>T	ENST00000355356.3	+	4	387	c.238C>T	c.(238-240)Cga>Tga	p.R80*	MIER1_ENST00000357692.2_Nonsense_Mutation_p.R97*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.R80*|MIER1_ENST00000355977.6_Nonsense_Mutation_p.R17*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.R133*|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371014.1_Nonsense_Mutation_p.R133*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.R97*|MIER1_ENST00000371018.3_Nonsense_Mutation_p.R97*	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	80	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TAGTACTGTTCGACTACCTga	0.388																																						ENST00000357692.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(289-291)Cga>Tga		mesoderm induction early response 1, transcriptional regulator							96.0	95.0	96.0					1																	67423799		1996	4169	6165	SO:0001587	stop_gained	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67423799C>T		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.238C>T	1.37:g.67423799C>T	ENSP00000347514:p.Arg80*					MIER1_ENST00000355356.3_Nonsense_Mutation_p.R80*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.R97*|MIER1_ENST00000371014.1_Nonsense_Mutation_p.R133*|MIER1_ENST00000371018.3_Nonsense_Mutation_p.R97*|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355977.6_Nonsense_Mutation_p.R17*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.R80*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.R133*	p.R97*	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN			6	546	+			104			Glu-rich.		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Nonsense_Mutation	SNP	ENST00000355356.3	37	c.289C>T	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989634	0.74589	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	.	.	.	5.42	4.5	0.54988	.	0.370481	0.26207	N	0.025714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-35.4198	15.9762	0.80066	0.1357:0.8643:0.0:0.0	.	.	.	.	X	101;97;17;97;133;97;133;80;80	.	ENSP00000347514:R80X	R	+	1	2	MIER1	67196387	0.994000	0.37717	0.942000	0.38095	0.136000	0.21042	3.149000	0.50655	1.412000	0.46977	0.591000	0.81541	CGA		0.388	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		21	33	0	0	0	1	0	21	33				
SLC6A15	55117	broad.mit.edu	37	12	85285788	85285788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85285788C>A	ENST00000266682.5	-	2	653	c.112G>T	c.(112-114)Gaa>Taa	p.E38*	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000450363.3_Nonsense_Mutation_p.E38*|SLC6A15_ENST00000552192.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	38					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ACAATTAGTTCACTTGTCTTA	0.383																																						ENST00000450363.3																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(112-114)Gaa>Taa		solute carrier family 6 (neutral amino acid transporter), member 15							233.0	214.0	220.0					12																	85285788		2203	4300	6503	SO:0001587	stop_gained	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85285788C>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.112G>T	12.37:g.85285788C>A	ENSP00000266682:p.Glu38*					SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Nonsense_Mutation_p.E38*|SLC6A15_ENST00000552192.1_Intron	p.E38*	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN			2	570	-			38					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Nonsense_Mutation	SNP	ENST00000266682.5	37	c.112G>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899388	0.72754	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	.	.	.	5.44	5.44	0.79542	.	0.109447	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	19.622	0.95660	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000266682:E38X	E	-	1	0	SLC6A15	83809919	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	2.583000	0.46094	2.702000	0.92279	0.591000	0.81541	GAA		0.383	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		21	126	1	0	1.01871e-10	1	1.25646e-10	21	126				
OGDH	4967	broad.mit.edu	37	7	44739760	44739760	+	Silent	SNP	C	C	T	rs368953616		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:44739760C>T	ENST00000222673.5	+	19	2493	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	OGDH_ENST00000449767.1_Silent_p.F813F|OGDH_ENST00000447398.1_Silent_p.F828F|OGDH_ENST00000543843.1_Silent_p.F768F|OGDH_ENST00000444676.1_Silent_p.F832F|OGDH_ENST00000439616.2_Silent_p.F667F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	817					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AAGCCAACTTCGACATCAATC	0.542																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2449-2451)ttC>ttT		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)	C	,	0,4406		0,0,2203	169.0	134.0	146.0		2439,2451	-10.9	0.1	7		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	OGDH	NM_001165036.1,NM_002541.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	813/1020,817/1024	44739760	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44739760C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2451C>T	7.37:g.44739760C>T						OGDH_ENST00000439616.2_Silent_p.F667F|OGDH_ENST00000543843.1_Silent_p.F768F|OGDH_ENST00000449767.1_Silent_p.F813F|OGDH_ENST00000447398.1_Silent_p.F828F|OGDH_ENST00000444676.1_Silent_p.F832F	p.F817F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			19	2493	+			817					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2451C>T	CCDS34627.1																																																																																				0.542	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			54	100	0	0	0	1	0	54	100				
KIAA1429	25962	broad.mit.edu	37	8	95539304	95539304	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95539304C>A	ENST00000297591.5	-	8	1243	c.1168G>T	c.(1168-1170)Gat>Tat	p.D390Y	KIAA1429_ENST00000421249.2_Missense_Mutation_p.D390Y|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D390Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	390					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTATACAAATCTAAGAGTTCT	0.338																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1168-1170)Gat>Tat		KIAA1429							135.0	140.0	138.0					8																	95539304		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95539304C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1168G>T	8.37:g.95539304C>A	ENSP00000297591:p.Asp390Tyr					KIAA1429_ENST00000421249.2_Missense_Mutation_p.D390Y|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D390Y	p.D390Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1243	-	Breast(36;3.29e-05)		390					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1168G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561876	0.27915	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.45668	0.9;0.89;0.89	5.74	4.84	0.62591	.	0.315734	0.33916	N	0.004423	T	0.27134	0.0665	N	0.08118	0	0.37389	D	0.912373	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13019	-1.0525	10	0.72032	D	0.01	-12.7113	15.8958	0.79333	0.1365:0.8635:0.0:0.0	.	390;390	Q69YN4-4;Q69YN4	.;VIR_HUMAN	Y	390	ENSP00000297591:D390Y;ENSP00000395600:D390Y;ENSP00000398390:D390Y	ENSP00000297591:D390Y	D	-	1	0	KIAA1429	95608480	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.649000	0.61433	1.385000	0.46445	0.591000	0.81541	GAT		0.338	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		34	69	1	0	4.65686e-17	1	6.22576e-17	34	69				
IRX3	79191	broad.mit.edu	37	16	54319319	54319319	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:54319319G>A	ENST00000329734.3	-	2	1186	c.474C>T	c.(472-474)ggC>ggT	p.G158G		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	158					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TGATCTTCTCGCCCTTGGTGG	0.622																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(472-474)ggC>ggT		iroquois homeobox 3							151.0	117.0	129.0					16																	54319319		2198	4298	6496	SO:0001819	synonymous_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319319G>A	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.474C>T	16.37:g.54319319G>A							p.G158G	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			2	1186	-			158					Q7Z4A4|Q7Z4A5|Q8IVC6	Silent	SNP	ENST00000329734.3	37	c.474C>T	CCDS10750.1																																																																																				0.622	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			40	101	0	0	0	1	0	40	101				
MCM5	4174	broad.mit.edu	37	22	35815913	35815913	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:35815913G>T	ENST00000216122.4	+	14	1894	c.1740G>T	c.(1738-1740)gaG>gaT	p.E580D	MCM5_ENST00000382011.5_Missense_Mutation_p.E537D	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	580					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGGCTGCAGAGAAACTGAAGA	0.632																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1738-1740)gaG>gaT		minichromosome maintenance complex component 5							59.0	62.0	61.0					22																	35815913		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35815913G>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1740G>T	22.37:g.35815913G>T	ENSP00000216122:p.Glu580Asp					MCM5_ENST00000382011.5_Missense_Mutation_p.E537D	p.E580D	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			14	1894	+			580					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1740G>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567644	0.65651	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.07327	3.2;3.2	5.45	5.45	0.79879	.	0.052124	0.85682	D	0.000000	T	0.08980	0.0222	L	0.31845	0.965	0.80722	D	1	B;B;B;B	0.17465	0.022;0.022;0.001;0.022	B;B;B;B	0.26864	0.074;0.074;0.019;0.074	T	0.10965	-1.0607	10	0.54805	T	0.06	-36.6975	12.6147	0.56569	0.0756:0.0:0.9244:0.0	.	580;580;537;580	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	D	580;537	ENSP00000216122:E580D;ENSP00000371441:E537D	ENSP00000216122:E580D	E	+	3	2	MCM5	34145913	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	5.757000	0.68766	2.558000	0.86282	0.549000	0.68633	GAG		0.632	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			23	60	1	0	3.5997e-14	1	4.67138e-14	23	60				
ACRC	93953	broad.mit.edu	37	X	70832407	70832407	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70832407G>A	ENST00000373695.1	+	11	2490	c.1953G>A	c.(1951-1953)acG>acA	p.T651T	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Silent_p.T651T			Q96QF7	ACRC_HUMAN	acidic repeat containing	651	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GATGCAAAACGAGGTAAGACT	0.458																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1951-1953)acG>acA		acidic repeat containing							56.0	47.0	50.0					X																	70832407		2203	4300	6503	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70832407G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1953G>A	X.37:g.70832407G>A						ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Silent_p.T651T	p.T651T			Q96QF7	ACRC_HUMAN			11	2490	+	Renal(35;0.156)		651					B9EG62	Silent	SNP	ENST00000373695.1	37	c.1953G>A	CCDS35326.1																																																																																				0.458	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			13	14	0	0	0	1	0	13	14				
NLRP10	338322	broad.mit.edu	37	11	7982699	7982699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982699C>T	ENST00000328600.2	-	2	621	c.460G>A	c.(460-462)Gct>Act	p.A154T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	154					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAATAGAGCCTCCACCGTG	0.572																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(460-462)Gct>Act		NLR family, pyrin domain containing 10							55.0	56.0	55.0					11																	7982699		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982699C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.460G>A	11.37:g.7982699C>T	ENSP00000327763:p.Ala154Thr						p.A154T	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	621	-			154					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.460G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	1.800	-0.477277	0.04414	.	.	ENSG00000182261	ENST00000328600	T	0.79352	-1.26	5.25	-3.05	0.05396	.	0.572244	0.14689	N	0.304298	T	0.49712	0.1573	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.35025	-0.9805	10	0.16420	T	0.52	.	5.5565	0.17119	0.154:0.224:0.0:0.6219	.	154	Q86W26	NAL10_HUMAN	T	154	ENSP00000327763:A154T	ENSP00000327763:A154T	A	-	1	0	NLRP10	7939275	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.996000	0.03709	-0.315000	0.08703	-0.768000	0.03414	GCT		0.572	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		25	52	0	0	0	1	0	25	52				
ALG10B	144245	broad.mit.edu	37	12	38714839	38714839	+	Missense_Mutation	SNP	C	C	T	rs375350214		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:38714839C>T	ENST00000308742.4	+	3	1562	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	416					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGAATTTCGTTACTTCAT	0.333																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(1246-1248)Cgt>Tgt		ALG10B, alpha-1,2-glucosyltransferase							189.0	188.0	189.0					12																	38714839		2203	4300	6503	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714839C>T	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1246C>T	12.37:g.38714839C>T	ENSP00000310120:p.Arg416Cys					ALG10B_ENST00000551464.1_Intron	p.R416C	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	1562	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	416					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.1246C>T	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	c	14.21	2.468786	0.43839	.	.	ENSG00000175548	ENST00000308742	T	0.70516	-0.49	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.86879	0.6039	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90051	0.4149	10	0.87932	D	0	.	13.3095	0.60371	0.0:1.0:0.0:0.0	.	416	Q5I7T1	AG10B_HUMAN	C	416	ENSP00000310120:R416C	ENSP00000310120:R416C	R	+	1	0	ALG10B	37001106	1.000000	0.71417	0.999000	0.59377	0.338000	0.28826	5.674000	0.68117	2.252000	0.74401	0.655000	0.94253	CGT		0.333	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		31	91	0	0	0	1	0	31	91				
TCHHL1	126637	broad.mit.edu	37	1	152057988	152057988	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152057988G>A	ENST00000368806.1	-	3	2234	c.2170C>T	c.(2170-2172)Cta>Tta	p.L724L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	724							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTCATCTAGACTTTCTAAC	0.448																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2170-2172)Cta>Tta		trichohyalin-like 1							157.0	162.0	160.0					1																	152057988		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152057988G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2170C>T	1.37:g.152057988G>A							p.L724L	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2234	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		724					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.2170C>T	CCDS30857.1																																																																																				0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		28	70	0	0	0	1	0	28	70				
CDK19	23097	broad.mit.edu	37	6	110988687	110988687	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110988687G>A	ENST00000368911.3	-	4	585	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	CDK19_ENST00000323817.3_Missense_Mutation_p.L76F	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATACCATCAAGAATCTGGTAA	0.328																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(406-408)Ctt>Ttt		cyclin-dependent kinase 19							93.0	92.0	92.0					6																	110988687		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110988687G>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.406C>T	6.37:g.110988687G>A	ENSP00000357907:p.Leu136Phe					CDK19_ENST00000323817.3_Missense_Mutation_p.L76F	p.L136F	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			4	585	-			136			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.406C>T	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334497	0.81801	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000457688	T;T;T	0.55234	0.53;0.53;0.53	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.209202	0.42420	D	0.000705	T	0.57651	0.2068	L	0.49350	1.555	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	T	0.60949	-0.7161	10	0.62326	D	0.03	-19.1001	12.5318	0.56120	0.0764:0.0:0.9236:0.0	.	136	Q9BWU1	CDK19_HUMAN	F	136;76;75;76	ENSP00000357907:L136F;ENSP00000317665:L76F;ENSP00000415621:L76F	ENSP00000317665:L76F	L	-	1	0	CDK19	111095380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.628000	0.83189	2.545000	0.85829	0.551000	0.68910	CTT		0.328	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		20	29	0	0	0	1	0	20	29				
ABCA4	24	broad.mit.edu	37	1	94528743	94528743	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94528743G>T	ENST00000370225.3	-	12	1771	c.1685C>A	c.(1684-1686)tCt>tAt	p.S562Y	ABCA4_ENST00000535735.1_Missense_Mutation_p.S562Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	562					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTGGTAGAGAGCTGGTCCA	0.493																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(1684-1686)tCt>tAt		ATP-binding cassette, sub-family A (ABC1), member 4							193.0	177.0	182.0					1																	94528743		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94528743G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1685C>A	1.37:g.94528743G>T	ENSP00000359245:p.Ser562Tyr					ABCA4_ENST00000535735.1_Missense_Mutation_p.S562Y	p.S562Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	12	1771	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	562					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1685C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201540	0.38905	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.98567	-5.0;-5.0	5.04	1.96	0.26148	.	0.722205	0.13656	N	0.371954	D	0.95313	0.8479	L	0.51914	1.62	0.09310	N	1	D;B	0.54601	0.967;0.035	P;B	0.52066	0.689;0.065	D	0.90636	0.4571	10	0.45353	T	0.12	.	4.7717	0.13158	0.0757:0.1089:0.4319:0.3835	.	562;562	F5H6E5;P78363	.;ABCA4_HUMAN	Y	562	ENSP00000359245:S562Y;ENSP00000437682:S562Y	ENSP00000359245:S562Y	S	-	2	0	ABCA4	94301331	0.001000	0.12720	0.990000	0.47175	0.882000	0.50991	-0.353000	0.07691	1.305000	0.44909	0.555000	0.69702	TCT		0.493	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		49	101	1	0	2.52991e-16	1	3.36543e-16	49	101				
SMARCA4	6597	broad.mit.edu	37	19	11114067	11114067	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11114067G>T	ENST00000429416.3	+	14	2276	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D	SMARCA4_ENST00000589677.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E665D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E665D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E665D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	665	Poly-Glu.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGAAGAAGAGGAAGAGGTAA	0.507			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1993-1995)gaG>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							144.0	134.0	138.0					19																	11114067		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11114067G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1995G>T	19.37:g.11114067G>T	ENSP00000395654:p.Glu665Asp					SMARCA4_ENST00000344626.4_Missense_Mutation_p.E665D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E665D	p.E665D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			13	2279	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	665			Poly-Glu.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1995G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185844	0.38609	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.24	4.24	0.50183	.	0.059925	0.64402	D	0.000004	T	0.28532	0.0706	N	0.20807	0.61	0.44424	D	0.997346	B;B;B;B;P;B;B	0.34780	0.089;0.02;0.02;0.044;0.468;0.022;0.022	B;B;B;B;B;B;B	0.32533	0.042;0.016;0.016;0.019;0.147;0.019;0.019	T	0.09185	-1.0686	10	0.27785	T	0.31	-44.6197	15.9393	0.79743	0.0:0.0:1.0:0.0	.	665;665;665;665;665;665;665	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	D	665;665;729;665;665;665;665;665	ENSP00000395654:E665D;ENSP00000350720:E665D;ENSP00000343896:E665D;ENSP00000445036:E665D;ENSP00000392837:E665D;ENSP00000397783:E665D;ENSP00000414727:E665D	ENSP00000343896:E665D	E	+	3	2	SMARCA4	10975067	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.669000	0.37492	2.355000	0.79922	0.467000	0.42956	GAG		0.507	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		19	98	1	0	0.012319	1	0.012659	19	98				
CNOT4	4850	broad.mit.edu	37	7	135078870	135078870	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:135078870A>G	ENST00000315544.5	-	10	1706	c.1427T>C	c.(1426-1428)tTc>tCc	p.F476S	CNOT4_ENST00000541284.1_Missense_Mutation_p.F476S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.F473S|CNOT4_ENST00000361528.4_Missense_Mutation_p.F473S|CNOT4_ENST00000423368.2_Missense_Mutation_p.F476S|CNOT4_ENST00000428680.2_Missense_Mutation_p.F473S|CNOT4_ENST00000356162.4_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	476					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AAATTGAGGGAACCTCTGGGG	0.502																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1417-1419)tTc>tCc		CCR4-NOT transcription complex, subunit 4							92.0	98.0	96.0					7																	135078870		1957	4154	6111	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135078870A>G	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1427T>C	7.37:g.135078870A>G	ENSP00000326731:p.Phe476Ser					CNOT4_ENST00000451834.1_Missense_Mutation_p.F473S|CNOT4_ENST00000541284.1_Missense_Mutation_p.F476S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.F473S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.F476S|CNOT4_ENST00000315544.5_Missense_Mutation_p.F476S	p.F473S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			10	1697	-			476					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.1418T>C	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717847	0.48622	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.51071	0.73;0.72;0.88;0.87;0.84;0.84	6.17	5.02	0.67125	.	0.089772	0.85682	N	0.000000	T	0.27313	0.0670	L	0.27053	0.805	0.48040	D	0.999578	P;B;B;B;B;B	0.37466	0.596;0.0;0.001;0.001;0.0;0.0	B;B;B;B;B;B	0.26864	0.074;0.002;0.001;0.003;0.002;0.002	T	0.06698	-1.0812	10	0.11182	T	0.66	-12.101	11.3759	0.49728	0.9302:0.0:0.0698:0.0	.	473;476;476;473;476;473	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	S	476;473;476;476;473;473;476	ENSP00000445508:F476S;ENSP00000388491:F473S;ENSP00000406777:F476S;ENSP00000354673:F473S;ENSP00000399108:F473S;ENSP00000326731:F476S	ENSP00000262563:F476S	F	-	2	0	CNOT4	134729410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	1.160000	0.42584	0.533000	0.62120	TTC		0.502	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		30	52	0	0	0	1	0	30	52				
CXorf22	170063	broad.mit.edu	37	X	35974224	35974224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35974224G>T	ENST00000297866.5	+	8	1387	c.1321G>T	c.(1321-1323)Gaa>Taa	p.E441*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	441								p.E441K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAATCAATGCGAATTACTTCC	0.358																																						ENST00000297866.5																			2	Substitution - Missense(2)	p.E441K(2)	large_intestine(2)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1321-1323)Gaa>Taa		chromosome X open reading frame 22							69.0	63.0	65.0					X																	35974224		2202	4300	6502	SO:0001587	stop_gained	170063							g.chrX:35974224G>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1321G>T	X.37:g.35974224G>T	ENSP00000297866:p.Glu441*						p.E441*	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			8	1387	+			441					Q5JRM8|Q8N6X8	Nonsense_Mutation	SNP	ENST00000297866.5	37	c.1321G>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882168	0.33255	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.2	-5.28	0.02755	.	1.251890	0.05007	N	0.470268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-31.1423	3.3027	0.06989	0.2448:0.3051:0.3491:0.101	.	.	.	.	X	441	.	ENSP00000297866:E441X	E	+	1	0	CXorf22	35884145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.269000	0.08596	-0.677000	0.05231	-1.184000	0.01707	GAA		0.358	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		23	50	1	0	5.26018e-13	1	6.70247e-13	23	50				
TMLHE	55217	broad.mit.edu	37	X	154741450	154741450	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154741450T>G	ENST00000334398.3	-	5	787	c.642A>C	c.(640-642)gaA>gaC	p.E214D	TMLHE_ENST00000369439.4_Missense_Mutation_p.E214D|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	214					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CATAAATGGTTTCTCTGTTAG	0.393																																						ENST00000334398.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(640-642)gaA>gaC		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						127.0	108.0	115.0					X																	154741450		2203	4300	6503	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154741450T>G	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.642A>C	X.37:g.154741450T>G	ENSP00000335261:p.Glu214Asp					TMLHE_ENST00000369439.4_Missense_Mutation_p.E214D|TMLHE-AS1_ENST00000452506.1_RNA	p.E214D	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN			5	787	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		214					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.642A>C	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657214	0.47467	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.82526	-1.62;-1.62	3.32	2.13	0.27403	.	0.058431	0.64402	D	0.000003	D	0.83723	0.5316	M	0.63169	1.94	0.50632	D	0.999887	D;P;D	0.56746	0.971;0.951;0.977	P;P;P	0.57283	0.721;0.738;0.817	T	0.80348	-0.1420	10	0.35671	T	0.21	-11.3826	5.6757	0.17747	0.0:0.144:0.0:0.856	.	214;214;214	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	D	214	ENSP00000335261:E214D;ENSP00000358447:E214D	ENSP00000335261:E214D	E	-	3	2	TMLHE	154394644	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	1.543000	0.36147	1.140000	0.42260	0.412000	0.27726	GAA		0.393	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		35	71	0	0	0	1	0	35	71				
EPHA3	2042	broad.mit.edu	37	3	89480399	89480399	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89480399G>T	ENST00000336596.2	+	13	2461	c.2236G>T	c.(2236-2238)Gac>Tac	p.D746Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.D746Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTTCACCGAGACCTCGCTGC	0.498										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2236-2238)Gac>Tac		EPH receptor A3							167.0	147.0	153.0					3																	89480399		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89480399G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2236G>T	3.37:g.89480399G>T	ENSP00000337451:p.Asp746Tyr	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.D746Y	p.D746Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	13	2461	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	746			Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2236G>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558589	0.86231	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.80909	-1.43;-1.43	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97106	0.9801	9	.	.	.	.	19.3726	0.94495	0.0:0.0:1.0:0.0	.	746	P29320	EPHA3_HUMAN	Y	746	ENSP00000337451:D746Y;ENSP00000419190:D746Y	.	D	+	1	0	EPHA3	89563089	1.000000	0.71417	0.974000	0.42286	0.877000	0.50540	9.813000	0.99286	2.648000	0.89879	0.585000	0.79938	GAC		0.498	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		19	31	1	0	4.35082e-09	1	5.20082e-09	19	31				
APOB	338	broad.mit.edu	37	2	21230633	21230633	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:21230633G>T	ENST00000233242.1	-	26	9234	c.9107C>A	c.(9106-9108)tCt>tAt	p.S3036Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3036					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S3036Y(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGAAAAGAGAATTTTTCAA	0.408																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.S3036Y(1)	large_intestine(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9106-9108)tCt>tAt		apolipoprotein B	Atorvastatin(DB01076)						49.0	54.0	52.0					2																	21230633		2203	4299	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230633G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9107C>A	2.37:g.21230633G>T	ENSP00000233242:p.Ser3036Tyr						p.S3036Y	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	9234	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3036					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9107C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784583	0.49997	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.39406	1.08	5.87	5.87	0.94306	.	0.224693	0.32175	N	0.006479	T	0.61949	0.2388	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	T	0.64812	-0.6319	10	0.87932	D	0	.	14.8744	0.70483	0.0:0.0:0.8228:0.1772	.	3036	P04114	APOB_HUMAN	Y	3036	ENSP00000233242:S3036Y	ENSP00000233242:S3036Y	S	-	2	0	APOB	21084138	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.728000	0.54991	2.780000	0.95670	0.655000	0.94253	TCT		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			14	32	1	0	0.00244969	1	0.00255607	14	32				
WDR44	54521	broad.mit.edu	37	X	117527097	117527097	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117527097A>C	ENST00000254029.3	+	4	1084	c.689A>C	c.(688-690)aAg>aCg	p.K230T	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.K230T|WDR44_ENST00000371822.5_Missense_Mutation_p.K205T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	230	Pro-rich.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGTACAAAGAAGCCTGTTCCA	0.517																																						ENST00000254029.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(688-690)aAg>aCg		WD repeat domain 44							112.0	103.0	106.0					X																	117527097		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527097A>C	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.689A>C	X.37:g.117527097A>C	ENSP00000254029:p.Lys230Thr					WDR44_ENST00000371822.5_Missense_Mutation_p.K205T|WDR44_ENST00000371825.3_Missense_Mutation_p.K230T|WDR44_ENST00000493448.1_3'UTR	p.K230T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN			4	1084	+			230			Pro-rich.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.689A>C	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.416164|4.416164	0.83449|0.83449	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	.|T;T;T	.|0.78816	.|-1.21;-0.6;-0.47	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81202|0.81202	0.4773|0.4773	L|L	0.34521|0.34521	1.04|1.04	0.50467|0.50467	D|D	0.999875|0.999875	.|D;D;D	.|0.76494	.|0.997;0.999;0.992	.|D;D;P	.|0.71656	.|0.956;0.974;0.864	T|T	0.79359|0.79359	-0.1836|-0.1836	5|10	.|0.29301	.|T	.|0.29	-10.3144|-10.3144	14.6525|14.6525	0.68808|0.68808	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|205;230;230	.|F8W913;Q5JSH3-2;Q5JSH3	.|.;.;WDR44_HUMAN	D|T	129|205;230;230	.|ENSP00000360887:K205T;ENSP00000254029:K230T;ENSP00000360890:K230T	.|ENSP00000254029:K230T	E|K	+|+	3|2	2|0	WDR44|WDR44	117411125|117411125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.904000|8.904000	0.92590|0.92590	1.841000|1.841000	0.53522|0.53522	0.486000|0.486000	0.48141|0.48141	GAA|AAG		0.517	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		65	123	0	0	0	1	0	65	123				
NT5C1A	84618	broad.mit.edu	37	1	40131262	40131262	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40131262C>T	ENST00000235628.1	-	3	363	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	122					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGACGATGTCGAAGACGTCC	0.577																																						ENST00000235628.1																			0				breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15						c.(364-366)Gac>Aac		5'-nucleotidase, cytosolic IA							127.0	101.0	110.0					1																	40131262		2203	4300	6503	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131262C>T	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.364G>A	1.37:g.40131262C>T	ENSP00000235628:p.Asp122Asn						p.D122N	NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	363	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	122					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.364G>A	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989034	0.93106	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.84338	0.5450	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	D	0.86915	0.2063	9	0.87932	D	0	-1.4397	19.2929	0.94110	0.0:1.0:0.0:0.0	.	122	Q9BXI3	5NT1A_HUMAN	N	122	.	ENSP00000235628:D122N	D	-	1	0	NT5C1A	39903849	1.000000	0.71417	0.959000	0.39883	0.444000	0.32077	7.810000	0.86072	2.636000	0.89361	0.655000	0.94253	GAC		0.577	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		12	27	0	0	0	1	0	12	27				
PHLDB2	90102	broad.mit.edu	37	3	111671466	111671466	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111671466C>A	ENST00000431670.2	+	11	3090	c.2679C>A	c.(2677-2679)ctC>ctA	p.L893L	PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393923.3_Silent_p.L877L|PHLDB2_ENST00000481953.1_Silent_p.L850L|PHLDB2_ENST00000412622.1_Silent_p.L850L|PHLDB2_ENST00000393925.3_Silent_p.L893L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	893						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGAAGGCCTCTATCTGAGTG	0.408																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(2677-2679)ctC>ctA		pleckstrin homology-like domain, family B, member 2							143.0	139.0	141.0					3																	111671466		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111671466C>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2679C>A	3.37:g.111671466C>A						PHLDB2_ENST00000412622.1_Silent_p.L850L|PHLDB2_ENST00000393923.3_Silent_p.L877L|PHLDB2_ENST00000393925.3_Silent_p.L893L|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000481953.1_Silent_p.L850L	p.L893L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			11	3090	+			893					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.2679C>A	CCDS46886.1																																																																																				0.408	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		36	46	1	0	9.8876e-21	1	1.35804e-20	36	46				
SI	6476	broad.mit.edu	37	3	164737404	164737404	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164737404C>T	ENST00000264382.3	-	28	3471	c.3409G>A	c.(3409-3411)Gac>Aac	p.D1137N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1137	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGGGGTTGGTCTCTTGTGAAC	0.463										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3409-3411)Gac>Aac		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						132.0	123.0	126.0					3																	164737404		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164737404C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3409G>A	3.37:g.164737404C>T	ENSP00000264382:p.Asp1137Asn	HNSCC(35;0.089)					p.D1137N	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			28	3471	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1137			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3409G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962635	0.92791	.	.	ENSG00000090402	ENST00000264382	D	0.90620	-2.7	4.6	4.6	0.57074	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.96719	0.8929	H	0.94423	3.535	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.97735	1.0205	10	0.72032	D	0.01	.	17.9471	0.89042	0.0:1.0:0.0:0.0	.	1137	P14410	SUIS_HUMAN	N	1137	ENSP00000264382:D1137N	ENSP00000264382:D1137N	D	-	1	0	SI	166220098	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.078000	0.76821	2.528000	0.85240	0.591000	0.81541	GAC		0.463	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		17	42	0	0	0	1	0	17	42				
LONRF1	91694	broad.mit.edu	37	8	12594474	12594474	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:12594474A>C	ENST00000398246.3	-	5	1358	c.1289T>G	c.(1288-1290)tTg>tGg	p.L430W	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Missense_Mutation_p.L73W	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	430							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TAAAAGAGACAACTTTCTTTT	0.338																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1288-1290)tTg>tGg		LON peptidase N-terminal domain and ring finger 1							91.0	79.0	83.0					8																	12594474		1826	4085	5911	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12594474A>C	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1289T>G	8.37:g.12594474A>C	ENSP00000381298:p.Leu430Trp					LONRF1_ENST00000533751.1_Missense_Mutation_p.L73W	p.L430W	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	5	1358	-			430					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.1289T>G	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370021	0.82573	.	.	ENSG00000154359	ENST00000398246;ENST00000533751;ENST00000524526	D;T;D	0.86366	-2.11;-1.46;-1.71	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000006	T	0.82121	0.4968	L	0.29908	0.895	0.58432	D	0.999992	P;P	0.39920	0.695;0.569	B;B	0.40565	0.333;0.179	T	0.82099	-0.0625	10	0.36615	T	0.2	-9.809	15.7668	0.78131	1.0:0.0:0.0:0.0	.	430;430	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	W	430;73;44	ENSP00000381298:L430W;ENSP00000432130:L73W;ENSP00000433327:L44W	ENSP00000381298:L430W	L	-	2	0	LONRF1	12638845	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	6.816000	0.75247	2.266000	0.75297	0.533000	0.62120	TTG		0.338	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		4	45	0	0	0	1	0	4	45				
GLMN	11146	broad.mit.edu	37	1	92756986	92756986	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:92756986A>C	ENST00000370360.3	-	4	355	c.274T>G	c.(274-276)Tta>Gta	p.L92V	GLMN_ENST00000534881.1_Missense_Mutation_p.L92V	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	92					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTACCAATAAATCAAAGATC	0.308									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(274-276)Tta>Gta		glomulin, FKBP associated protein							61.0	62.0	62.0					1																	92756986		2203	4299	6502	SO:0001583	missense	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92756986A>C	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.274T>G	1.37:g.92756986A>C	ENSP00000359385:p.Leu92Val					GLMN_ENST00000534881.1_Missense_Mutation_p.L92V	p.L92V	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	4	355	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	92					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.274T>G	CCDS738.1	.	.	.	.	.	.	.	.	.	.	A	1.963	-0.438429	0.04636	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.43294	0.95;0.95	5.86	0.954	0.19595	.	0.118012	0.56097	D	0.000024	T	0.09291	0.0229	L	0.41236	1.265	0.25745	N	0.985114	P;B	0.36027	0.533;0.001	B;B	0.36666	0.23;0.005	T	0.20940	-1.0260	10	0.16420	T	0.52	-3.4694	0.1489	0.00091	0.3034:0.1548:0.2428:0.299	.	92;92	B4DJ85;Q92990	.;GLMN_HUMAN	V	92	ENSP00000359385:L92V;ENSP00000440156:L92V	ENSP00000359385:L92V	L	-	1	2	GLMN	92529574	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	1.367000	0.34204	0.122000	0.18314	-0.403000	0.06358	TTA		0.308	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		22	8	0	0	0	1	0	22	8				
SMARCAD1	56916	broad.mit.edu	37	4	95196044	95196044	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95196044C>A	ENST00000354268.4	+	14	1809	c.1736C>A	c.(1735-1737)tCt>tAt	p.S579Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.S579Y|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.S149Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	579	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATTCTAGGTTCTCAAGAAGAA	0.284																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1735-1737)tCt>tAt		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							77.0	83.0	81.0					4																	95196044		2201	4296	6497	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95196044C>A	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1736C>A	4.37:g.95196044C>A	ENSP00000346217:p.Ser579Tyr					SMARCAD1_ENST00000457823.2_Missense_Mutation_p.S579Y|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.S149Y	p.S579Y			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	14	1809	+			579			Helicase ATP-binding.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1736C>A	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553068	0.65425	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.93811	-3.21;-3.21;-3.21;-3.29	5.55	4.71	0.59529	DEAD-like helicase (2);SNF2-related (1);	0.282661	0.25456	N	0.030545	D	0.97461	0.9169	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98292	1.0514	10	0.87932	D	0	-15.2551	14.67	0.68937	0.0:0.9301:0.0:0.0699	.	579;579	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	Y	579;579;579;149	ENSP00000351947:S579Y;ENSP00000415576:S579Y;ENSP00000346217:S579Y;ENSP00000423286:S149Y	ENSP00000346217:S579Y	S	+	2	0	SMARCAD1	95415067	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	5.480000	0.66820	1.377000	0.46286	-0.224000	0.12420	TCT		0.284	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		17	23	1	0	9.16793e-09	1	1.08598e-08	17	23				
NOS3	4846	broad.mit.edu	37	7	150692348	150692348	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150692348G>T	ENST00000484524.1	+	2	216	c.216G>T	c.(214-216)aaG>aaT	p.K72N	NOS3_ENST00000297494.3_Missense_Mutation_p.K72N|NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000467517.1_Missense_Mutation_p.K72N	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCGTGTGAAGAACTGGGAGG	0.642																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(214-216)aaG>aaT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						40.0	42.0	41.0					7																	150692348		2201	4297	6498	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150692348G>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.216G>T	7.37:g.150692348G>T	ENSP00000420215:p.Lys72Asn					NOS3_ENST00000484524.1_Missense_Mutation_p.K72N|NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000467517.1_Missense_Mutation_p.K72N	p.K72N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	573	+	all_neural(206;0.219)		72					Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.216G>T	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	18.55	3.648726	0.67358	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.25414	1.8;1.8;1.8	4.2	4.2	0.49525	Nitric oxide synthase, oxygenase domain (1);	0.126992	0.34046	N	0.004314	T	0.31857	0.0810	L	0.41824	1.3	0.42278	D	0.99208	P;P;P;P	0.47677	0.551;0.551;0.7;0.899	B;B;B;P	0.50537	0.07;0.07;0.41;0.643	T	0.14783	-1.0460	10	0.87932	D	0	-11.2747	14.422	0.67190	0.0:0.0:1.0:0.0	.	72;72;72;72	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	N	72	ENSP00000297494:K72N;ENSP00000420215:K72N;ENSP00000420551:K72N	ENSP00000297494:K72N	K	+	3	2	NOS3	150323281	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.880000	0.75578	2.035000	0.60131	0.651000	0.88453	AAG		0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		12	29	1	0	5.50884e-06	1	6.10489e-06	12	29				
SPARC	6678	broad.mit.edu	37	5	151052738	151052738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:151052738C>A	ENST00000231061.4	-	4	473	c.160G>T	c.(160-162)Gaa>Taa	p.E54*		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	54	Asp/Glu-rich (acidic; binds calcium).				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TCATCAAATTCTCCTACTTCC	0.537																																						ENST00000231061.4																			0				central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(160-162)Gaa>Taa		secreted protein, acidic, cysteine-rich (osteonectin)	Becaplermin(DB00102)						216.0	188.0	198.0					5																	151052738		2203	4300	6503	SO:0001587	stop_gained	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151052738C>A		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.160G>T	5.37:g.151052738C>A	ENSP00000231061:p.Glu54*						p.E54*	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	4	473	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	54			Asp/Glu-rich (acidic; binds calcium).		D3DQH9|Q6IBK4	Nonsense_Mutation	SNP	ENST00000231061.4	37	c.160G>T	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768144	0.69878	.	.	ENSG00000113140	ENST00000231061;ENST00000539687	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-17.3969	18.5563	0.91086	0.0:1.0:0.0:0.0	.	.	.	.	X	54	.	ENSP00000231061:E54X	E	-	1	0	SPARC	151032931	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	6.682000	0.74528	2.375000	0.81037	0.561000	0.74099	GAA		0.537	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		15	96	1	0	3.27435e-08	1	3.83577e-08	15	96				
NUDCD2	134492	broad.mit.edu	37	5	162883965	162883965	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162883965T>C	ENST00000302764.4	-	3	449	c.360A>G	c.(358-360)agA>agG	p.R120R	NUDCD2_ENST00000517501.1_Silent_p.R95R|NUDCD2_ENST00000519395.1_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	120						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		ATGTAAGCTTTCTCTGCATTT	0.323																																						ENST00000302764.4																			0				large_intestine(1)|prostate(1)	2						c.(358-360)agA>agG		NudC domain containing 2							139.0	134.0	136.0					5																	162883965		2203	4300	6503	SO:0001819	synonymous_variant	134492					intracellular		g.chr5:162883965T>C	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.360A>G	5.37:g.162883965T>C						NUDCD2_ENST00000517501.1_Silent_p.R95R	p.R120R	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)	3	449	-	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	120					B2R4V0	Silent	SNP	ENST00000302764.4	37	c.360A>G	CCDS4361.1																																																																																				0.323	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		14	50	0	0	0	1	0	14	50				
NHSL2	340527	broad.mit.edu	37	X	71359836	71359836	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71359836C>T	ENST00000373677.1	+	2	2602	c.1340C>T	c.(1339-1341)aCt>aTt	p.T447I	NHSL2_ENST00000535692.1_Missense_Mutation_p.T447I|NHSL2_ENST00000540800.1_Missense_Mutation_p.T813I|NHSL2_ENST00000510661.1_Missense_Mutation_p.T582I			Q5HYW2	NHSL2_HUMAN	NHS-like 2	447										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GCCCAGAAAACTAATCCCAAC	0.502																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(1339-1341)aCt>aTt		NHS-like 2							83.0	69.0	74.0					X																	71359836		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71359836C>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1340C>T	X.37:g.71359836C>T	ENSP00000362781:p.Thr447Ile					NHSL2_ENST00000510661.1_Missense_Mutation_p.T582I|NHSL2_ENST00000535692.1_Missense_Mutation_p.T447I|NHSL2_ENST00000540800.1_Missense_Mutation_p.T813I	p.T447I			F5H593	F5H593_HUMAN			2	2602	+	Renal(35;0.156)		813					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.1340C>T		.	.	.	.	.	.	.	.	.	.	C	11.78	1.740889	0.30865	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.45276	1.52;0.92;0.9;0.92	5.41	4.54	0.55810	.	0.218004	0.37095	N	0.002245	T	0.37732	0.1014	L	0.47716	1.5	0.32729	N	0.50924	B;B;B	0.25809	0.081;0.135;0.135	B;B;B	0.27500	0.08;0.08;0.08	T	0.50759	-0.8790	10	0.52906	T	0.07	-4.8212	12.1649	0.54125	0.1714:0.8286:0.0:0.0	.	813;582;447	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	I	813;447;582;447	ENSP00000444617:T813I;ENSP00000362781:T447I;ENSP00000424079:T582I;ENSP00000444914:T447I	ENSP00000362781:T447I	T	+	2	0	NHSL2	71276561	0.708000	0.27876	0.996000	0.52242	0.916000	0.54674	1.451000	0.35145	1.246000	0.43901	0.600000	0.82982	ACT		0.502	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		9	19	0	0	0	1	0	9	19				
ADAM21P1	145241	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACCACTTCCAGGGAAGTGAA	0.527													G|||	786	0.156949	0.1505	0.085	5008	,	,		20010	0.2907		0.1262	False		,,,				2504	0.1104					ENST00000530196.1																			0																																																			0							g.chr14:70714259A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714259A>G								NR_003951.1						0	259	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.527	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		4	110	0	0	0	1	0	4	110				
SNAPC3	6619	broad.mit.edu	37	9	15453106	15453106	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:15453106G>T	ENST00000380821.3	+	7	1059	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	SNAPC3_ENST00000380799.1_Missense_Mutation_p.D92Y	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	295					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		TAGAATGGAAGATTTCACCTT	0.393																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(883-885)Gat>Tat		small nuclear RNA activating complex, polypeptide 3, 50kDa							197.0	191.0	193.0					9																	15453106		2203	4300	6503	SO:0001583	missense	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15453106G>T	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.883G>T	9.37:g.15453106G>T	ENSP00000370200:p.Asp295Tyr					SNAPC3_ENST00000380799.1_Missense_Mutation_p.D92Y	p.D295Y	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	7	1059	+			295					D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	c.883G>T	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200295	0.79015	.	.	ENSG00000164975	ENST00000380821;ENST00000380799	T;T	0.49432	0.78;0.78	5.06	5.06	0.68205	.	0.046837	0.85682	D	0.000000	T	0.64338	0.2589	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.67665	-0.5612	10	0.87932	D	0	-9.4773	15.5734	0.76356	0.0:0.1377:0.8623:0.0	.	295	Q92966	SNPC3_HUMAN	Y	295;92	ENSP00000370200:D295Y;ENSP00000370177:D92Y	ENSP00000370177:D92Y	D	+	1	0	SNAPC3	15443106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.547000	0.73892	2.358000	0.79984	0.561000	0.74099	GAT		0.393	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		16	59	1	0	4.14922e-12	1	5.21015e-12	16	59				
AHSG	197	broad.mit.edu	37	3	186331076	186331076	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186331076A>C	ENST00000273784.5	+	1	222	c.146A>C	c.(145-147)aAt>aCt	p.N49T	AHSG_ENST00000411641.2_Missense_Mutation_p.N49T	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	49	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GACTACATCAATCAAAACCTT	0.478																																						ENST00000411641.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(145-147)aAt>aCt		alpha-2-HS-glycoprotein							84.0	78.0	80.0					3																	186331076		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186331076A>C	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.146A>C	3.37:g.186331076A>C	ENSP00000273784:p.Asn49Thr					AHSG_ENST00000273784.5_Missense_Mutation_p.N49T	p.N49T			P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	1	365	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		49			Cystatin fetuin-A-type 1.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.146A>C		.	.	.	.	.	.	.	.	.	.	a	14.33	2.503743	0.44558	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.25250	1.81;1.81	5.73	5.73	0.89815	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (1);	0.000000	0.64402	D	0.000001	T	0.58722	0.2142	M	0.91354	3.2	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67833	-0.5568	10	0.87932	D	0	-25.4877	12.7165	0.57117	1.0:0.0:0.0:0.0	.	115;49;49;49	F5H0Q5;P02765;C9JV77;B7Z556	.;FETUA_HUMAN;.;.	T	49;115;49	ENSP00000393887:N49T;ENSP00000273784:N49T	ENSP00000273784:N49T	N	+	2	0	AHSG	187813770	1.000000	0.71417	0.935000	0.37517	0.013000	0.08279	6.056000	0.71111	2.324000	0.78689	0.533000	0.62120	AAT		0.478	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		16	37	0	0	0	1	0	16	37				
SSTR1	6751	broad.mit.edu	37	14	38678969	38678969	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:38678969C>T	ENST00000267377.2	+	3	992	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	125					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	ACTGGCCCTTCGGTGCGCTGC	0.597																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(373-375)ttC>ttT		somatostatin receptor 1	Octreotide(DB00104)						183.0	167.0	172.0					14																	38678969		2203	4300	6503	SO:0001819	synonymous_variant	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678969C>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.375C>T	14.37:g.38678969C>T							p.F125F	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	992	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		125						Silent	SNP	ENST00000267377.2	37	c.375C>T	CCDS9666.1																																																																																				0.597	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			74	172	0	0	0	1	0	74	172				
MYCT1	80177	broad.mit.edu	37	6	153019160	153019160	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:153019160T>G	ENST00000367245.5	+	1	131	c.123T>G	c.(121-123)ttT>ttG	p.F41L	MYCT1_ENST00000529453.1_Missense_Mutation_p.F41L	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	41						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCTTCTCTTTCTTCTATTTC	0.318																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(121-123)ttT>ttG		myc target 1							53.0	53.0	53.0					6																	153019160		2203	4296	6499	SO:0001583	missense	80177					nucleus		g.chr6:153019160T>G	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.123T>G	6.37:g.153019160T>G	ENSP00000356214:p.Phe41Leu					MYCT1_ENST00000529453.1_Missense_Mutation_p.F41L	p.F41L	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	1	131	+		Ovarian(120;0.0654)	41					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.123T>G	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.24|11.24	1.579551|1.579551	0.28180|0.28180	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000532295|ENST00000367245;ENST00000529453	T|T	0.34859|0.31769	1.34|1.48	3.76|3.76	3.76|3.76	0.43208|0.43208	.|.	1.651120|1.651120	0.04091|0.04091	N|N	0.311314|0.311314	T|T	0.05547|0.05547	0.0146|0.0146	N|N	0.08118|0.08118	0|0	0.25657|0.25657	N|N	0.98605|0.98605	.|B	.|0.19200	.|0.034	.|B	.|0.14023	.|0.01	T|T	0.22312|0.22312	-1.0220|-1.0220	8|10	0.72032|0.10111	D|T	0.01|0.7	-0.2871|-0.2871	9.1806|9.1806	0.37138|0.37138	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|41	.|Q8N699	.|MYCT1_HUMAN	C|L	22|41	ENSP00000434396:F22C|ENSP00000356214:F41L	ENSP00000434396:F22C|ENSP00000356214:F41L	F|F	+|+	2|3	0|2	MYCT1|MYCT1	153060853|153060853	0.017000|0.017000	0.18338|0.18338	0.846000|0.846000	0.33378|0.33378	0.920000|0.920000	0.55202|0.55202	0.462000|0.462000	0.21956|0.21956	1.952000|1.952000	0.56665|0.56665	0.528000|0.528000	0.53228|0.53228	TTC|TTT		0.318	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		5	12	0	0	0	1	0	5	12				
IL1RAPL1	11141	broad.mit.edu	37	X	29938105	29938105	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29938105C>A	ENST00000378993.1	+	8	1624	c.951C>A	c.(949-951)atC>atA	p.I317I	IL1RAPL1_ENST00000302196.4_Silent_p.I317I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	317	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAGTTTCCATCTCATTAATTG	0.393																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(949-951)atC>atA		interleukin 1 receptor accessory protein-like 1							211.0	178.0	189.0					X																	29938105		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938105C>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.951C>A	X.37:g.29938105C>A						IL1RAPL1_ENST00000302196.4_Silent_p.I317I	p.I317I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			8	1624	+			317			Ig-like C2-type 3.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.951C>A	CCDS14218.1																																																																																				0.393	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		33	54	1	0	1.30998e-17	1	1.76095e-17	33	54				
CD163	9332	broad.mit.edu	37	12	7649418	7649418	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7649418T>C	ENST00000359156.4	-	5	1292	c.1090A>G	c.(1090-1092)Aca>Gca	p.T364A	CD163_ENST00000396620.3_Missense_Mutation_p.T364A|CD163_ENST00000432237.2_Missense_Mutation_p.T364A|CD163_ENST00000541972.1_Missense_Mutation_p.T352A	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	364	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCAGAACATGTCACGCCAGCA	0.423																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1090-1092)Aca>Gca		CD163 molecule							97.0	77.0	84.0					12																	7649418		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649418T>C	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1090A>G	12.37:g.7649418T>C	ENSP00000352071:p.Thr364Ala					CD163_ENST00000432237.2_Missense_Mutation_p.T364A|CD163_ENST00000396620.3_Missense_Mutation_p.T364A|CD163_ENST00000541972.1_Missense_Mutation_p.T352A	p.T364A	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			5	1292	-			364			SRCR 3.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1090A>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.509424	0.27036	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.14	2.61	0.31194	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.795125	0.11587	N	0.549171	T	0.32041	0.0816	L	0.47716	1.5	0.09310	N	1	P;B;P	0.40000	0.698;0.082;0.515	B;B;B	0.40982	0.345;0.085;0.197	T	0.20571	-1.0271	10	0.72032	D	0.01	.	6.2316	0.20738	0.0:0.0875:0.161:0.7515	.	364;364;364	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	A	364;352;364;364	ENSP00000352071:T364A;ENSP00000444071:T352A;ENSP00000379863:T364A;ENSP00000403885:T364A	ENSP00000352071:T364A	T	-	1	0	CD163	7540685	0.000000	0.05858	0.477000	0.27303	0.626000	0.37791	0.728000	0.26013	0.909000	0.36697	0.459000	0.35465	ACA		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		10	37	0	0	0	1	0	10	37				
ZBTB8A	653121	broad.mit.edu	37	1	33060820	33060820	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33060820G>A	ENST00000373510.4	+	4	1218	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R330Q|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AGCCATTTTCGAACAGTATGT	0.383																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(988-990)cGa>cAa		zinc finger and BTB domain containing 8A							131.0	121.0	124.0					1																	33060820		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33060820G>A	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.989G>A	1.37:g.33060820G>A	ENSP00000362609:p.Arg330Gln					RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R330Q	p.R330Q	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			4	1218	+			330					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.989G>A	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820764	0.50633	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.09445	2.98;2.98	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.229594	0.37304	N	0.002144	T	0.04724	0.0128	N	0.08118	0	0.32677	N	0.516023	B;P	0.49862	0.013;0.929	B;B	0.34418	0.004;0.182	T	0.23332	-1.0191	10	0.31617	T	0.26	-5.4871	12.0581	0.53546	0.0787:0.0:0.9212:0.0	.	330;330	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	Q	330	ENSP00000362609:R330Q;ENSP00000317561:R330Q	ENSP00000317561:R330Q	R	+	2	0	ZBTB8A	32833407	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.852000	0.55934	2.727000	0.93392	0.579000	0.79373	CGA		0.383	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		56	33	0	0	0	1	0	56	33				
OR4N4	283694	broad.mit.edu	37	15	22382507	22382507	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22382507T>G	ENST00000328795.4	+	1	126	c.35T>G	c.(34-36)tTt>tGt	p.F12C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTGACAGAATTTATCCTCCTT	0.348																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(34-36)tTt>tGt		olfactory receptor, family 4, subfamily N, member 4							160.0	152.0	155.0					15																	22382507		2188	4263	6451	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382507T>G	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.35T>G	15.37:g.22382507T>G	ENSP00000332500:p.Phe12Cys					RP11-69H14.6_ENST00000558896.1_RNA	p.F12C	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	126	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	12					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.35T>G	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.260192	0.23051	.	.	ENSG00000183706	ENST00000328795	T	0.04603	3.59	3.24	3.24	0.37175	.	0.000000	0.50627	D	0.000119	T	0.29716	0.0742	H	0.96970	3.915	0.30621	N	0.75845	D	0.89917	1.0	D	0.75484	0.986	T	0.47433	-0.9118	10	0.87932	D	0	-21.1954	9.793	0.40717	0.0:0.0:0.0:1.0	.	12	Q8N0Y3	OR4N4_HUMAN	C	12	ENSP00000332500:F12C	ENSP00000332500:F12C	F	+	2	0	OR4N4	19883871	0.996000	0.38824	0.996000	0.52242	0.135000	0.20990	3.865000	0.56033	1.465000	0.48006	0.164000	0.16699	TTT		0.348	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			20	252	0	0	0	1	0	20	252				
TSIX	9383	broad.mit.edu	37	X	73046027	73046027	+	lincRNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:73046027C>A	ENST00000604411.1	+	0	33988				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TTGTCTAATTCTTCTCATTGG	0.458																																						ENST00000604411.1																			0																				103.0	100.0	101.0					X																	73046027		876	1991	2867			0							g.chrX:73046027C>A			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046027C>A						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	33988	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.458	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		29	56	1	0	1.5548e-18	1	2.10666e-18	29	56				
DOCK4	9732	broad.mit.edu	37	7	111418353	111418353	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111418353G>T	ENST00000437633.1	-	35	3887	c.3631C>A	c.(3631-3633)Ctc>Atc	p.L1211I	DOCK4_ENST00000494651.2_Missense_Mutation_p.L94I|DOCK4_ENST00000428084.1_Missense_Mutation_p.L1220I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1211	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTGCTTTGAGATGCAGATCA	0.368																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(3658-3660)Ctc>Atc		dedicator of cytokinesis 4							178.0	167.0	170.0					7																	111418353		1862	4101	5963	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111418353G>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3631C>A	7.37:g.111418353G>T	ENSP00000404179:p.Leu1211Ile					DOCK4_ENST00000437633.1_Missense_Mutation_p.L1211I|DOCK4_ENST00000494651.2_Missense_Mutation_p.L94I	p.L1220I			Q8N1I0	DOCK4_HUMAN			36	3930	-		Acute lymphoblastic leukemia(1;0.0441)	1211			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3658C>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579908	0.65992	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288;ENST00000437129;ENST00000450156;ENST00000417165	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.78	3.97	0.46021	.	0.316889	0.32273	N	0.006322	T	0.52549	0.1741	M	0.62723	1.935	0.46586	D	0.999119	P;P;P;P;P	0.50943	0.85;0.624;0.85;0.94;0.907	B;P;P;P;P	0.49561	0.41;0.46;0.507;0.611;0.615	T	0.54918	-0.8221	10	0.72032	D	0.01	.	4.031	0.09710	0.1376:0.1369:0.5961:0.1293	.	118;94;1256;1211;1220	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.;.;.;DOCK4_HUMAN;.	I	1199;1220;94;1211;1208;85;94;118	ENSP00000410746:L1220I;ENSP00000440944:L94I;ENSP00000404179:L1211I;ENSP00000406298:L85I;ENSP00000406468:L94I;ENSP00000403504:L118I	ENSP00000345432:L1208I	L	-	1	0	DOCK4	111205589	0.999000	0.42202	0.997000	0.53966	0.997000	0.91878	2.282000	0.43461	0.892000	0.36259	0.655000	0.94253	CTC		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		21	41	1	0	7.87624e-14	1	1.01695e-13	21	41				
BARD1	580	broad.mit.edu	37	2	215632245	215632245	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215632245A>G	ENST00000260947.4	-	6	1663	c.1529T>C	c.(1528-1530)gTc>gCc	p.V510A	BARD1_ENST00000449967.2_Missense_Mutation_p.V366A	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	510					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAACAGCTTGACTATATCCAC	0.408									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1528-1530)gTc>gCc		BRCA1 associated RING domain 1							125.0	114.0	118.0					2																	215632245		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215632245A>G		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1529T>C	2.37:g.215632245A>G	ENSP00000260947:p.Val510Ala					BARD1_ENST00000449967.2_Missense_Mutation_p.V366A	p.V510A	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	6	1663	-		Renal(323;0.0243)	510					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1529T>C	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.200849	0.38905	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.71222	-0.55;-0.55	5.64	4.47	0.54385	Ankyrin repeat-containing domain (3);	0.138081	0.50627	D	0.000118	T	0.64316	0.2587	L	0.56124	1.755	0.48511	D	0.999668	B;B	0.31274	0.032;0.317	B;B	0.32864	0.085;0.154	T	0.62859	-0.6765	10	0.32370	T	0.25	-12.0244	11.244	0.48985	0.8763:0.0:0.1237:0.0	.	366;510	E7EUI3;Q99728	.;BARD1_HUMAN	A	510;366	ENSP00000260947:V510A;ENSP00000406752:V366A	ENSP00000260947:V510A	V	-	2	0	BARD1	215340490	1.000000	0.71417	0.963000	0.40424	0.985000	0.73830	2.849000	0.48286	2.265000	0.75225	0.482000	0.46254	GTC		0.408	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		11	29	0	0	0	1	0	11	29				
GIMAP8	155038	broad.mit.edu	37	7	150164222	150164222	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150164222G>T	ENST00000307271.3	+	2	1010	c.436G>T	c.(436-438)Gat>Tat	p.D146Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	146	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTTGCTGCAAGATTTCATTGA	0.438																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(436-438)Gat>Tat		GTPase, IMAP family member 8							90.0	87.0	88.0					7																	150164222		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150164222G>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.436G>T	7.37:g.150164222G>T	ENSP00000305107:p.Asp146Tyr						p.D146Y	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	1010	+			146						Missense_Mutation	SNP	ENST00000307271.3	37	c.436G>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652442	0.47362	.	.	ENSG00000171115	ENST00000307271	T	0.09445	2.98	4.47	2.58	0.30949	AIG1 (1);	0.912935	0.09208	N	0.833641	T	0.34424	0.0897	M	0.89968	3.075	0.20074	N	0.999935	D	0.65815	0.995	D	0.65323	0.934	T	0.09335	-1.0679	10	0.72032	D	0.01	.	5.2558	0.15546	0.1167:0.2103:0.673:0.0	.	146	Q8ND71	GIMA8_HUMAN	Y	146	ENSP00000305107:D146Y	ENSP00000305107:D146Y	D	+	1	0	GIMAP8	149795155	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.004000	0.13106	0.477000	0.27464	0.650000	0.86243	GAT		0.438	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		24	44	1	0	2.21704e-12	1	2.79328e-12	24	44				
CD163	9332	broad.mit.edu	37	12	7639348	7639348	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7639348A>C	ENST00000359156.4	-	10	2407	c.2205T>G	c.(2203-2205)taT>taG	p.Y735*	CD163_ENST00000396620.3_Nonsense_Mutation_p.Y768*|CD163_ENST00000432237.2_Nonsense_Mutation_p.Y735*|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Nonsense_Mutation_p.Y723*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	735	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGCCCTCATGATAGATCTCTA	0.512																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2203-2205)taT>taG		CD163 molecule							101.0	98.0	99.0					12																	7639348		2203	4300	6503	SO:0001587	stop_gained	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639348A>C	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2205T>G	12.37:g.7639348A>C	ENSP00000352071:p.Tyr735*					CD163_ENST00000432237.2_Nonsense_Mutation_p.Y735*|CD163_ENST00000396620.3_Nonsense_Mutation_p.Y768*|CD163_ENST00000541972.1_Nonsense_Mutation_p.Y723*	p.Y735*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			10	2407	-			735			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	ENST00000359156.4	37	c.2205T>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519131	0.85495	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	5.54	-6.92	0.01644	.	0.182772	0.38492	N	0.001674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	19.3133	0.94199	0.2115:0.0:0.7885:0.0	.	.	.	.	X	735;723;768;735	.	ENSP00000352071:Y735X	Y	-	3	2	CD163	7530615	0.000000	0.05858	0.002000	0.10522	0.338000	0.28826	-2.932000	0.00688	-1.416000	0.02019	-0.256000	0.11100	TAT		0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		41	104	0	0	0	1	0	41	104				
CAMSAP1	157922	broad.mit.edu	37	9	138742171	138742171	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138742171C>A	ENST00000389532.4	-	6	1009	c.945G>T	c.(943-945)ttG>ttT	p.L315F	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.L37F|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.L326F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	315	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TTATTACCTTCAACACTAATG	0.323																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(943-945)ttG>ttT		calmodulin regulated spectrin-associated protein 1							73.0	78.0	76.0					9																	138742171		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138742171C>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.945G>T	9.37:g.138742171C>A	ENSP00000374183:p.Leu315Phe					CAMSAP1_ENST00000409386.3_Missense_Mutation_p.L326F|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.L37F	p.L315F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	6	1009	-			315			CH.		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.945G>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792121	0.70452	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	D;D;T	0.95377	-3.69;-3.69;1.61	5.57	-0.318	0.12728	Calponin homology domain (2);	0.066509	0.64402	D	0.000018	D	0.96500	0.8858	M	0.78456	2.415	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94423	0.7642	10	0.87932	D	0	-4.0506	7.1014	0.25340	0.0:0.193:0.5855:0.2215	.	315;326	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	F	315;37;326	ENSP00000374183:L315F;ENSP00000312463:L37F;ENSP00000386420:L326F	ENSP00000312463:L37F	L	-	3	2	CAMSAP1	137881992	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	0.339000	0.19875	0.083000	0.17047	0.655000	0.94253	TTG		0.323	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		34	51	1	0	2.42023e-17	1	3.24332e-17	34	51				
ZNF20	7568	broad.mit.edu	37	19	12244261	12244261	+	Missense_Mutation	SNP	C	C	A	rs371304651		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12244261C>A	ENST00000334213.5	-	4	964	c.740G>T	c.(739-741)aGa>aTa	p.R247I	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	247					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)|kidney(1)|lung(6)	8						TGTGTGAGTTCTTTCATGTAC	0.403																																						ENST00000334213.5																			0				endometrium(1)|kidney(1)|lung(6)	8						c.(739-741)aGa>aTa		zinc finger protein 20							87.0	90.0	89.0					19																	12244261		2145	4276	6421	SO:0001583	missense	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12244261C>A	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.740G>T	19.37:g.12244261C>A	ENSP00000335437:p.Arg247Ile					ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	p.R247I	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN			4	964	-			247					Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	c.740G>T	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107420	0.37145	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.18338	2.22	0.753	0.753	0.18404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34106	0.0886	M	0.71206	2.165	0.53688	D	0.999973	D	0.76494	0.999	D	0.85130	0.997	T	0.08722	-1.0708	9	0.49607	T	0.09	.	7.2957	0.26391	0.0:1.0:0.0:0.0	.	247	P17024	ZNF20_HUMAN	I	247	ENSP00000335437:R247I	ENSP00000292241:R247I	R	-	2	0	ZNF20	12105261	0.000000	0.05858	0.009000	0.14445	0.185000	0.23345	-0.839000	0.04368	0.668000	0.31126	0.313000	0.20887	AGA		0.403	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		29	59	1	0	9.39395e-14	1	1.21013e-13	29	59				
DBH	1621	broad.mit.edu	37	9	136507486	136507486	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136507486A>C	ENST00000393056.2	+	3	656	c.644A>C	c.(643-645)gAg>gCg	p.E215A		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	215					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TGCACCATGGAGGTCCAAGCT	0.587																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(643-645)gAg>gCg		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						71.0	65.0	67.0					9																	136507486		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136507486A>C	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.644A>C	9.37:g.136507486A>C	ENSP00000376776:p.Glu215Ala						p.E215A	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	656	+			215					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.644A>C	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	A	13.27	2.185965	0.38609	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.37915	1.17;1.17	4.67	4.67	0.58626	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.281830	0.39985	N	0.001213	T	0.60090	0.2242	M	0.89414	3.03	0.49483	D	0.999792	P	0.34743	0.466	P	0.52066	0.689	T	0.65212	-0.6223	10	0.66056	D	0.02	-26.7184	10.3432	0.43891	0.8529:0.0:0.0:0.1471	.	215	P09172	DOPO_HUMAN	A	215;152;152	ENSP00000376776:E215A;ENSP00000263611:E152A	ENSP00000263611:E152A	E	+	2	0	DBH	135497307	1.000000	0.71417	0.890000	0.34922	0.014000	0.08584	6.732000	0.74790	1.871000	0.54225	0.402000	0.26972	GAG		0.587	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		17	35	0	0	0	1	0	17	35				
CYP51A1	1595	broad.mit.edu	37	7	91755658	91755658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:91755658C>A	ENST00000003100.8	-	5	844	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E122*|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	221					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	GCTACCTTTTCATTGAGTTGA	0.428																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(679-681)Gaa>Taa		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						51.0	45.0	47.0					7																	91755658		2203	4300	6503	SO:0001587	stop_gained	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91755658C>A	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.679G>T	7.37:g.91755658C>A	ENSP00000003100:p.Glu227*					LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E122*	p.E227*	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		5	844	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		221					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Nonsense_Mutation	SNP	ENST00000003100.8	37	c.679G>T	CCDS5623.1	.	.	.	.	.	.	.	.	.	.	C	37	6.496097	0.97612	.	.	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723	.	.	.	5.43	4.56	0.56223	.	0.089922	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	14.2425	0.65966	0.0:0.9282:0.0:0.0717	.	.	.	.	X	227;167;122	.	ENSP00000003100:E227X	E	-	1	0	CYP51A1	91593594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.060000	0.71141	1.423000	0.47198	0.650000	0.86243	GAA		0.428	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			6	13	1	0	3.59834e-05	1	3.93264e-05	6	13				
TMEM255A	55026	broad.mit.edu	37	X	119425181	119425181	+	Silent	SNP	G	G	A	rs143048894	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119425181G>A	ENST00000309720.5	-	4	402	c.279C>T	c.(277-279)atC>atT	p.I93I	TMEM255A_ENST00000371369.4_Silent_p.I93I|TMEM255A_ENST00000440464.1_Silent_p.I93I	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	93						integral component of membrane (GO:0016021)											TGATAAACACGATAGAAGCCA	0.488																																						ENST00000371369.4																			0											c.(277-279)atC>atT		transmembrane protein 255A		G	,,	0,3835		0,0,0,1632,571	66.0	48.0	55.0		279,279,279	0.2	1.0	X	dbSNP_134	55	10,6718		0,8,2,2420,1870	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM70A	NM_001104544.1,NM_001104545.1,NM_017938.3	,,	0,8,2,4052,2441	AA,AG,A,GG,G		0.1486,0.0,0.0947	,,	93/326,93/242,93/350	119425181	10,10553	2203	4300	6503	SO:0001819	synonymous_variant	55026							g.chrX:119425181G>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.279C>T	X.37:g.119425181G>A						TMEM255A_ENST00000309720.5_Silent_p.I93I|TMEM255A_ENST00000440464.1_Silent_p.I93I	p.I93I	NM_001104544.1	NP_001098014.1					4	505	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.279C>T	CCDS14597.1																																																																																				0.488	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		3	18	0	0	0	1	0	3	18				
ANLN	54443	broad.mit.edu	37	7	36459027	36459027	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:36459027A>C	ENST00000265748.2	+	10	2029	c.1808A>C	c.(1807-1809)aAt>aCt	p.N603T	ANLN_ENST00000396068.2_Missense_Mutation_p.N566T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	603	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GATGCACTGAATATCTCCTCA	0.443																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(1807-1809)aAt>aCt		anillin, actin binding protein							141.0	121.0	128.0					7																	36459027		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36459027A>C	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1808A>C	7.37:g.36459027A>C	ENSP00000265748:p.Asn603Thr					ANLN_ENST00000396068.2_Missense_Mutation_p.N566T	p.N603T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			10	2029	+			603			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1808A>C	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790436	0.50102	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.23147	1.92;2.17	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.61703	1.905	0.80722	D	1	D;P;P;P	0.65815	0.995;0.872;0.922;0.872	P;B;P;B	0.56088	0.791;0.358;0.561;0.358	T	0.26189	-1.0110	10	0.45353	T	0.12	-15.7558	15.4594	0.75342	1.0:0.0:0.0:0.0	.	480;565;566;603	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	T	603;566	ENSP00000265748:N603T;ENSP00000379380:N566T	ENSP00000265748:N603T	N	+	2	0	ANLN	36425552	1.000000	0.71417	0.758000	0.31321	0.033000	0.12548	8.880000	0.92407	2.070000	0.61991	0.533000	0.62120	AAT		0.443	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		29	32	0	0	0	1	0	29	32				
PLXNA4	91584	broad.mit.edu	37	7	131872281	131872281	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131872281G>A	ENST00000359827.3	-	15	3904	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A981V			Q9HCM2	PLXA4_HUMAN	plexin A4	981	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTGCTTCCGGCATTCAGGTT	0.562																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2941-2943)gCc>gTc		plexin A4							202.0	217.0	212.0					7																	131872281		2107	4246	6353	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131872281G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2942C>T	7.37:g.131872281G>A	ENSP00000352882:p.Ala981Val					PLXNA4_ENST00000321063.4_Missense_Mutation_p.A981V	p.A981V			Q9HCM2	PLXA4_HUMAN			15	3904	-			981			IPT/TIG 2.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2942C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468628	0.96274	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76316	-1.01;-1.01	5.54	5.54	0.83059	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.83194	-0.0082	10	0.37606	T	0.19	.	19.4761	0.94989	0.0:0.0:1.0:0.0	.	981	Q9HCM2	PLXA4_HUMAN	V	981	ENSP00000323194:A981V;ENSP00000352882:A981V	ENSP00000323194:A981V	A	-	2	0	PLXNA4	131522821	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	9.441000	0.97557	2.615000	0.88500	0.555000	0.69702	GCC		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		24	271	0	0	0	1	0	24	271				
LRFN2	57497	broad.mit.edu	37	6	40399910	40399910	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:40399910C>T	ENST00000338305.6	-	2	1485	c.943G>A	c.(943-945)Gac>Aac	p.D315N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	315	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGCTGGGGTCCCCAATGGCT	0.597																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(943-945)Gac>Aac		leucine rich repeat and fibronectin type III domain containing 2							40.0	42.0	41.0					6																	40399910		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399910C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.943G>A	6.37:g.40399910C>T	ENSP00000345985:p.Asp315Asn						p.D315N	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	1485	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		315			Ig-like.		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.943G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569531	0.86439	.	.	ENSG00000156564	ENST00000338305	T	0.66815	-0.23	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	L	0.45228	1.405	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.75496	-0.3297	10	0.87932	D	0	.	18.2433	0.89974	0.0:1.0:0.0:0.0	.	315	Q9ULH4	LRFN2_HUMAN	N	315	ENSP00000345985:D315N	ENSP00000345985:D315N	D	-	1	0	LRFN2	40507888	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.806000	0.86020	2.661000	0.90470	0.655000	0.94253	GAC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		21	47	0	0	0	1	0	21	47				
MXRA5	25878	broad.mit.edu	37	X	3240878	3240878	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3240878C>A	ENST00000217939.6	-	5	3002	c.2848G>T	c.(2848-2850)Gga>Tga	p.G950*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	950						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGACGATCCAACATCTGCT	0.507																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(2848-2850)Gga>Tga		matrix-remodelling associated 5							118.0	83.0	95.0					X																	3240878		2203	4300	6503	SO:0001587	stop_gained	25878					extracellular region		g.chrX:3240878C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2848G>T	X.37:g.3240878C>A	ENSP00000217939:p.Gly950*						p.G950*	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3002	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	950					Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	c.2848G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	38	6.969534	0.97971	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.22	2.35	0.29111	.	0.454699	0.16011	U	0.233810	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.5823	0.22602	0.0:0.7611:0.0:0.2389	.	.	.	.	X	950	.	ENSP00000217939:G950X	G	-	1	0	MXRA5	3250878	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.393000	0.20817	0.376000	0.24707	0.529000	0.55759	GGA		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		35	52	1	0	7.65355e-07	1	8.68711e-07	35	52				
TEX43	389320	broad.mit.edu	37	5	125968261	125968261	+	Missense_Mutation	SNP	G	G	A	rs147526168		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:125968261G>A	ENST00000357147.3	+	2	123	c.110G>A	c.(109-111)cGa>cAa	p.R37Q		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		37										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CATTTGCCACGATTTTCATTA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20335	0.001		0.0	False		,,,				2504	0.0					ENST00000357147.3																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.(109-111)cGa>cAa		chromosome 5 open reading frame 48							107.0	100.0	102.0					5																	125968261		2203	4300	6503	SO:0001583	missense	389320							g.chr5:125968261G>A																												ENST00000357147.3:c.110G>A	5.37:g.125968261G>A	ENSP00000349669:p.Arg37Gln						p.R37Q	NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN			2	123	+			37						Missense_Mutation	SNP	ENST00000357147.3	37	c.110G>A	CCDS4139.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.98	1.799375	0.31869	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.69	1.91	0.25777	.	0.144454	0.31495	N	0.007557	T	0.28034	0.0691	L	0.29908	0.895	0.22001	N	0.999421	B	0.11235	0.004	B	0.09377	0.004	T	0.18116	-1.0347	9	0.49607	T	0.09	-3.8324	8.3764	0.32445	0.1521:0.0:0.7202:0.1277	.	37	Q6ZNM6	CE048_HUMAN	Q	37	.	ENSP00000349669:R37Q	R	+	2	0	C5orf48	125996160	0.761000	0.28439	0.968000	0.41197	0.859000	0.49053	0.426000	0.21363	0.161000	0.19458	-0.797000	0.03246	CGA		0.393	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			7	18	0	0	0	1	0	7	18				
PDE9A	5152	broad.mit.edu	37	21	44152236	44152236	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:44152236T>C	ENST00000291539.6	+	6	557		c.e6+2		PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000335440.6_Intron|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000380328.2_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GTTCTCAAGGTACAGAGTCTT	0.527																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.e6+2		phosphodiesterase 9A							76.0	72.0	73.0					21																	44152236		2203	4300	6503	SO:0001630	splice_region_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44152236T>C	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.497+2T>C	21.37:g.44152236T>C						PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000398229.3_Intron		NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			6	557	+								B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Splice_Site	SNP	ENST00000291539.6	37		CCDS13690.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.520130	0.27211	.	.	ENSG00000160191	ENST00000335512;ENST00000291539;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000398225;ENST00000398224	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2243	0.59907	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE9A	43025305	1.000000	0.71417	0.993000	0.49108	0.192000	0.23643	3.904000	0.56325	1.933000	0.56026	0.528000	0.53228	.		0.527	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1		Intron	8	19	0	0	0	1	0	8	19				
EIF3F	8665	broad.mit.edu	37	11	8013686	8013686	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:8013686C>A	ENST00000533626.1	+	5	1117	c.491C>A	c.(490-492)tCt>tAt	p.S164Y	EIF3F_ENST00000449102.2_Missense_Mutation_p.S15Y|EIF3F_ENST00000537635.1_Missense_Mutation_p.S179Y|EIF3F_ENST00000309828.4_Missense_Mutation_p.S164Y					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAAAAGTTTCTCCAAATGAG	0.478																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(490-492)tCt>tAt		eukaryotic translation initiation factor 3, subunit F							47.0	43.0	45.0					11																	8013686		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8013686C>A	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.491C>A	11.37:g.8013686C>A	ENSP00000431800:p.Ser164Tyr					EIF3F_ENST00000449102.2_Missense_Mutation_p.S15Y|EIF3F_ENST00000309828.4_Missense_Mutation_p.S164Y|EIF3F_ENST00000537635.1_Missense_Mutation_p.S179Y	p.S164Y			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	1117	+			164			MPN.			Missense_Mutation	SNP	ENST00000533626.1	37	c.491C>A	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332482	0.60853	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.5	4.5	0.54988	.	0.055190	0.85682	D	0.000000	T	0.43255	0.1239	N	0.19112	0.55	0.80722	D	1	B	0.22276	0.067	B	0.31245	0.126	T	0.47182	-0.9137	10	0.87932	D	0	-9.3858	15.588	0.76502	0.0:1.0:0.0:0.0	.	164	O00303	EIF3F_HUMAN	Y	164;179;164;114;15	ENSP00000431800:S164Y;ENSP00000442283:S179Y;ENSP00000310040:S164Y;ENSP00000396929:S15Y	ENSP00000310040:S164Y	S	+	2	0	EIF3F	7970262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.269000	0.78482	2.452000	0.82932	0.644000	0.83932	TCT		0.478	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		10	15	1	0	1.76689e-08	1	2.08373e-08	10	15				
GPRASP1	9737	broad.mit.edu	37	X	101911592	101911592	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101911592C>A	ENST00000361600.5	+	5	3552	c.2751C>A	c.(2749-2751)gtC>gtA	p.V917V	GPRASP1_ENST00000537097.1_Silent_p.V917V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.V917V|GPRASP1_ENST00000415986.1_Silent_p.V917V	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	917	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAAAGAAGTCAGTGAAGAAG	0.463																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2749-2751)gtC>gtA		G protein-coupled receptor associated sorting protein 1							99.0	97.0	98.0					X																	101911592		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101911592C>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2751C>A	X.37:g.101911592C>A						GPRASP1_ENST00000444152.1_Silent_p.V917V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.V917V|GPRASP1_ENST00000415986.1_Silent_p.V917V	p.V917V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3564	+			917			Glu-rich.|OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.2751C>A	CCDS35352.1																																																																																				0.463	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		33	92	1	0	2.61193e-14	1	3.39424e-14	33	92				
ATP2B4	493	broad.mit.edu	37	1	203691694	203691694	+	Silent	SNP	C	C	T	rs531305517		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203691694C>T	ENST00000357681.5	+	18	4024	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	ATP2B4_ENST00000341360.2_Silent_p.F967F|ATP2B4_ENST00000391954.2_Silent_p.F967F|ATP2B4_ENST00000367218.3_Silent_p.F967F|ATP2B4_ENST00000367219.3_Silent_p.F955F	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	967					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTAACACCTTCGTGCTGATGC	0.448																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(2899-2901)ttC>ttT		ATPase, Ca++ transporting, plasma membrane 4							163.0	145.0	151.0					1																	203691694		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203691694C>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2901C>T	1.37:g.203691694C>T						ATP2B4_ENST00000391954.2_Silent_p.F967F|ATP2B4_ENST00000367218.3_Silent_p.F967F|ATP2B4_ENST00000367219.3_Silent_p.F955F|ATP2B4_ENST00000341360.2_Silent_p.F967F	p.F967F	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		18	4024	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		967					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.2901C>T	CCDS1440.1																																																																																				0.448	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		25	58	0	0	0	1	0	25	58				
CCDC88A	55704	broad.mit.edu	37	2	55646215	55646215	+	Start_Codon_SNP	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:55646215T>C	ENST00000436346.1	-	1	842	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CCDC88A_ENST00000471947.1_5'UTR|CCDC88A_ENST00000263630.8_Start_Codon_SNP_p.M1V|CCDC88A_ENST00000336838.6_Start_Codon_SNP_p.M1V|CCDC88A_ENST00000413716.2_Start_Codon_SNP_p.M1V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCGTTCTCCATTTTACAGAGT	0.388																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(1-3)Atg>Gtg		coiled-coil domain containing 88A							82.0	83.0	83.0					2																	55646215		2203	4300	6503	SO:0001582	initiator_codon_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55646215T>C	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1A>G	2.37:g.55646215T>C	ENSP00000410608:p.Met1Val					CCDC88A_ENST00000471947.1_5'UTR|CCDC88A_ENST00000263630.8_Start_Codon_SNP_p.M1V|CCDC88A_ENST00000413716.2_Start_Codon_SNP_p.M1V|CCDC88A_ENST00000336838.6_Start_Codon_SNP_p.M1V	p.M1V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			1	842	-			1					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Translation_Start_Site	SNP	ENST00000436346.1	37	c.1A>G		.	.	.	.	.	.	.	.	.	.	T	21.7	4.180747	0.78677	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.16597	2.33;2.77;2.55;2.38	5.71	5.71	0.89125	.	0.000000	0.53938	U	0.000049	T	0.44201	0.1282	.	.	.	0.80722	D	1	P;D;D	0.59767	0.865;0.982;0.986	P;D;D	0.70935	0.824;0.961;0.971	T	0.44190	-0.9344	9	0.87932	D	0	-12.8383	15.9965	0.80250	0.0:0.0:0.0:1.0	.	1;1;1	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	V	1	ENSP00000338728:M1V;ENSP00000263630:M1V;ENSP00000410608:M1V;ENSP00000404431:M1V	ENSP00000263630:M1V	M	-	1	0	CCDC88A	55499719	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.496000	0.81526	2.174000	0.68829	0.460000	0.39030	ATG		0.388	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	Missense_Mutation	13	22	0	0	0	1	0	13	22				
DCHS2	54798	broad.mit.edu	37	4	155312322	155312322	+	Missense_Mutation	SNP	G	G	T	rs538493825		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155312322G>T	ENST00000357232.4	-	1	127	c.128C>A	c.(127-129)tCt>tAt	p.S43Y	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	43					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACCTCTGAGATTTCACAAT	0.323																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(127-129)tCt>tAt		dachsous cadherin-related 2							123.0	116.0	118.0					4																	155312322		2203	4299	6502	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155312322G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.128C>A	4.37:g.155312322G>T	ENSP00000349768:p.Ser43Tyr					DCHS2_ENST00000339452.1_Intron	p.S43Y	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	1	127	-	all_hematologic(180;0.208)	Renal(120;0.0854)	43					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.128C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.949	-0.706923	0.03230	.	.	ENSG00000197410	ENST00000357232	T	0.55234	0.53	2.88	-0.242	0.13039	.	.	.	.	.	T	0.28896	0.0717	N	0.08118	0	0.09310	N	1	P	0.50819	0.939	P	0.44860	0.462	T	0.14117	-1.0484	9	0.25751	T	0.34	.	4.7474	0.13043	0.1395:0.4413:0.4191:0.0	.	43	Q6V1P9	PCD23_HUMAN	Y	43	ENSP00000349768:S43Y	ENSP00000349768:S43Y	S	-	2	0	DCHS2	155531772	0.002000	0.14202	0.005000	0.12908	0.129000	0.20672	-0.077000	0.11394	-0.091000	0.12440	0.591000	0.81541	TCT		0.323	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	18	1	0	0.150653	1	0.151842	3	18				
EFHD1	80303	broad.mit.edu	37	2	233498584	233498584	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:233498584C>T	ENST00000264059.3	+	1	647	c.170C>T	c.(169-171)gCc>gTc	p.A57V	EFHD1_ENST00000409613.1_Intron	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	57					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GAGCTGAGCGCCCAGCTGAGC	0.771																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(169-171)gCc>gTc		EF-hand domain family, member D1							3.0	3.0	3.0					2																	233498584		1686	3689	5375	SO:0001583	missense	80303						calcium ion binding|protein binding	g.chr2:233498584C>T		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.170C>T	2.37:g.233498584C>T	ENSP00000264059:p.Ala57Val					EFHD1_ENST00000409613.1_Intron	p.A57V	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	1	647	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	57					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	c.170C>T	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557058	0.45590	.	.	ENSG00000115468	ENST00000264059	T	0.66638	-0.22	3.46	1.44	0.22558	.	0.357839	0.27715	N	0.018146	T	0.49474	0.1559	L	0.34521	1.04	0.80722	D	1	B	0.20550	0.046	B	0.19391	0.025	T	0.40739	-0.9547	10	0.46703	T	0.11	-0.9265	5.9377	0.19175	0.1875:0.7045:0.0:0.108	.	57	Q9BUP0	EFHD1_HUMAN	V	57	ENSP00000264059:A57V	ENSP00000264059:A57V	A	+	2	0	EFHD1	233206828	0.999000	0.42202	0.019000	0.16419	0.879000	0.50718	2.157000	0.42320	0.642000	0.30620	0.491000	0.48974	GCC		0.771	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		5	9	0	0	0	1	0	5	9				
BOD1L1	259282	broad.mit.edu	37	4	13605283	13605283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13605283C>A	ENST00000040738.5	-	10	3376	c.3241G>T	c.(3241-3243)Gaa>Taa	p.E1081*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1081						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTGGCCATTTCTTGTGACAAG	0.418																																						ENST00000040738.5																			0											c.(3241-3243)Gaa>Taa		biorientation of chromosomes in cell division 1-like 1							117.0	110.0	112.0					4																	13605283		2203	4300	6503	SO:0001587	stop_gained	259282						DNA binding	g.chr4:13605283C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3241G>T	4.37:g.13605283C>A	ENSP00000040738:p.Glu1081*						p.E1081*	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	3376	-			1081					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	c.3241G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	40	8.302654	0.98750	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.53	5.53	0.82687	.	0.125136	0.36778	N	0.002405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-8.6394	13.0249	0.58808	0.0:0.9228:0.0:0.0772	.	.	.	.	X	1081	.	ENSP00000040738:E1081X	E	-	1	0	BOD1L	13214381	1.000000	0.71417	0.998000	0.56505	0.440000	0.31957	3.499000	0.53310	2.603000	0.88011	0.650000	0.86243	GAA		0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		12	40	1	0	0.000978159	1	0.00102903	12	40				
FBXL5	26234	broad.mit.edu	37	4	15646324	15646324	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:15646324T>G	ENST00000341285.3	-	2	216	c.92A>C	c.(91-93)aAa>aCa	p.K31T	FBXL5_ENST00000382358.4_5'UTR|FBXL5_ENST00000412094.2_Intron	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	31	Hemerythrin-like.				iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AAAATTGGTTTTAGAAAGCTG	0.303																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(91-93)aAa>aCa		F-box and leucine-rich repeat protein 5							36.0	35.0	35.0					4																	15646324		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15646324T>G	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.92A>C	4.37:g.15646324T>G	ENSP00000344866:p.Lys31Thr					FBXL5_ENST00000412094.2_Intron|FBXL5_ENST00000382358.4_5'UTR	p.K31T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			2	216	-			31			Hemerythrin-like.		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.92A>C	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	T	9.153	1.016643	0.19355	.	.	ENSG00000118564	ENST00000341285;ENST00000507899	T	0.32023	1.47	5.11	5.11	0.69529	.	0.091438	0.85682	D	0.000000	T	0.18635	0.0447	N	0.04508	-0.205	0.80722	D	1	B	0.30179	0.271	B	0.36845	0.234	T	0.16453	-1.0402	10	0.22706	T	0.39	-19.1005	14.8957	0.70642	0.0:0.0:0.0:1.0	.	31	Q9UKA1	FBXL5_HUMAN	T	31;12	ENSP00000344866:K31T	ENSP00000344866:K31T	K	-	2	0	FBXL5	15255422	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.180000	0.71981	1.905000	0.55150	0.528000	0.53228	AAA		0.303	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			13	12	0	0	0	1	0	13	12				
IMPG2	50939	broad.mit.edu	37	3	100947714	100947714	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:100947714G>T	ENST00000193391.7	-	18	3827	c.3640C>A	c.(3640-3642)Caa>Aaa	p.Q1214K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1214	Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif. {ECO:0000250}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ATTCTCTCTTGAATTTCCTTA	0.383																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3640-3642)Caa>Aaa		interphotoreceptor matrix proteoglycan 2							96.0	95.0	95.0					3																	100947714		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100947714G>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3640C>A	3.37:g.100947714G>T	ENSP00000193391:p.Gln1214Lys						p.Q1214K	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			18	3827	-			1214			Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif (By similarity).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.3640C>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132270	0.77662	.	.	ENSG00000081148	ENST00000193391	T	0.26518	1.73	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.53578	0.1805	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.54193	-0.8330	10	0.87932	D	0	-9.9671	19.819	0.96583	0.0:0.0:1.0:0.0	.	1214;1214	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	K	1214	ENSP00000193391:Q1214K	ENSP00000193391:Q1214K	Q	-	1	0	IMPG2	102430404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.209000	0.65208	2.691000	0.91804	0.655000	0.94253	CAA		0.383	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			12	23	1	0	0.000978159	1	0.00102903	12	23				
PLA2G1B	5319	broad.mit.edu	37	12	120762808	120762808	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120762808T>G	ENST00000308366.4	-	3	286	c.251A>C	c.(250-252)aAa>aCa	p.K84T	PLA2G1B_ENST00000423423.3_Intron|PLA2G1B_ENST00000549767.1_Missense_Mutation_p.K55T	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	84					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	CAGCAGAAATTTACAGCTGTC	0.512											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	ENST00000308366.4																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(250-252)aAa>aCa		phospholipase A2, group IB (pancreas)							213.0	164.0	181.0					12																	120762808		2203	4300	6503	SO:0001583	missense	5319				actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding	g.chr12:120762808T>G		CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.251A>C	12.37:g.120762808T>G	ENSP00000312286:p.Lys84Thr		OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1506	PLA2G1B_ENST00000423423.3_Intron|PLA2G1B_ENST00000549767.1_Missense_Mutation_p.K55T	p.K84T	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN			3	286	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		84					B2R4H5|Q3KPI1	Missense_Mutation	SNP	ENST00000308366.4	37	c.251A>C	CCDS9195.1	.	.	.	.	.	.	.	.	.	.	T	8.733	0.917191	0.17982	.	.	ENSG00000170890	ENST00000308366;ENST00000549767	T;T	0.28454	1.61;1.64	5.04	-7.37	0.01412	Phospholipase A2 (3);	1.091960	0.06642	N	0.761227	T	0.17874	0.0429	L	0.41492	1.28	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.24657	-1.0154	10	0.16896	T	0.51	0.018	4.8897	0.13721	0.0945:0.122:0.4575:0.326	.	84	P04054	PA21B_HUMAN	T	84;55	ENSP00000312286:K84T;ENSP00000447233:K55T	ENSP00000312286:K84T	K	-	2	0	PLA2G1B	119247191	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.529000	0.06186	-1.772000	0.01292	0.459000	0.35465	AAA		0.512	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1			43	58	0	0	0	1	0	43	58				
NAP1L2	4674	broad.mit.edu	37	X	72433253	72433253	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:72433253C>T	ENST00000373517.3	-	1	1431	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R217Q	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	359					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AGTTACAGTTCGGATTGTTCC	0.373																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(1075-1077)cGa>cAa		nucleosome assembly protein 1-like 2							67.0	59.0	62.0					X																	72433253		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433253C>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.1076G>A	X.37:g.72433253C>T	ENSP00000362616:p.Arg359Gln					NAP1L2_ENST00000536638.1_Missense_Mutation_p.R217Q	p.R359Q	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1431	-	Renal(35;0.156)		359					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.1076G>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	19.98	3.927436	0.73327	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.30448	1.53;1.53	3.12	3.12	0.35913	.	0.000000	0.85682	U	0.000000	T	0.57198	0.2037	M	0.86343	2.81	0.39198	D	0.963098	D	0.89917	1.0	D	0.81914	0.995	T	0.67518	-0.5650	10	0.87932	D	0	-3.642	11.3559	0.49615	0.0:1.0:0.0:0.0	.	359	Q9ULW6	NP1L2_HUMAN	Q	359;217	ENSP00000362616:R359Q;ENSP00000441555:R217Q	ENSP00000362616:R359Q	R	-	2	0	NAP1L2	72349978	0.993000	0.37304	0.998000	0.56505	0.666000	0.39218	3.565000	0.53798	1.809000	0.52856	0.506000	0.49869	CGA		0.373	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		25	41	0	0	0	1	0	25	41				
LAMA2	3908	broad.mit.edu	37	6	129637245	129637245	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:129637245C>A	ENST00000421865.2	+	27	4036	c.3987C>A	c.(3985-3987)ttC>ttA	p.F1329L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1329	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGAAGACTTCTTGGATATAC	0.338																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3985-3987)ttC>ttA		laminin, alpha 2							83.0	89.0	87.0					6																	129637245		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129637245C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3987C>A	6.37:g.129637245C>A	ENSP00000400365:p.Phe1329Leu						p.F1329L	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	27	4036	+			1329			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3987C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462217	0.84425	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.30714	1.52	5.39	5.39	0.77823	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	L	0.32530	0.975	0.54753	D	0.999988	D;D	0.89917	0.975;1.0	D;D	0.83275	0.927;0.996	T	0.02104	-1.1213	10	0.15499	T	0.54	.	19.5159	0.95165	0.0:1.0:0.0:0.0	.	1329;1329	A6NF00;P24043	.;LAMA2_HUMAN	L	1329	ENSP00000400365:F1329L	ENSP00000346769:F1329L	F	+	3	2	LAMA2	129678938	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.815000	0.48018	2.680000	0.91292	0.650000	0.86243	TTC		0.338	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			19	41	1	0	2.94398e-08	1	3.45884e-08	19	41				
FBXO39	162517	broad.mit.edu	37	17	6690193	6690193	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6690193T>G	ENST00000321535.4	+	3	1248	c.1118T>G	c.(1117-1119)aTc>aGc	p.I373S		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	373										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TACTTCAAAATCTGGGCTTTC	0.463																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(1117-1119)aTc>aGc		F-box protein 39							111.0	104.0	107.0					17																	6690193		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6690193T>G	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1118T>G	17.37:g.6690193T>G	ENSP00000321386:p.Ile373Ser						p.I373S	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			3	1248	+			373						Missense_Mutation	SNP	ENST00000321535.4	37	c.1118T>G	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.660430	0.47572	.	.	ENSG00000177294	ENST00000321535	T	0.55930	0.49	5.57	5.57	0.84162	.	0.184693	0.38111	N	0.001816	T	0.39835	0.1093	N	0.24115	0.695	0.43579	D	0.995912	P	0.38195	0.622	B	0.36666	0.23	T	0.44711	-0.9310	10	0.87932	D	0	-35.6311	12.4228	0.55529	0.0:0.0:0.0:1.0	.	373	Q8N4B4	FBX39_HUMAN	S	373	ENSP00000321386:I373S	ENSP00000321386:I373S	I	+	2	0	FBXO39	6630917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.230000	0.65321	2.260000	0.74910	0.528000	0.53228	ATC		0.463	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		39	65	0	0	0	1	0	39	65				
KCND3	3752	broad.mit.edu	37	1	112329633	112329633	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:112329633A>C	ENST00000315987.2	-	3	1681	c.1202T>G	c.(1201-1203)gTg>gGg	p.V401G	KCND3_ENST00000302127.4_Missense_Mutation_p.V401G|KCND3_ENST00000369697.1_Missense_Mutation_p.V401G	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	401					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGAAACAATCACAGGGACTGG	0.542																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1201-1203)gTg>gGg		potassium voltage-gated channel, Shal-related subfamily, member 3							120.0	112.0	115.0					1																	112329633		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112329633A>C	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1202T>G	1.37:g.112329633A>C	ENSP00000319591:p.Val401Gly					KCND3_ENST00000302127.4_Missense_Mutation_p.V401G|KCND3_ENST00000315987.2_Missense_Mutation_p.V401G	p.V401G			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	1271	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	401					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1202T>G	CCDS843.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624192	0.87560	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.99113	-5.44;-5.44;-5.44	4.84	4.84	0.62591	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98530	1.0627	10	0.87932	D	0	.	14.3685	0.66823	1.0:0.0:0.0:0.0	.	401;401	Q14D71;Q9UK17	.;KCND3_HUMAN	G	401	ENSP00000358711:V401G;ENSP00000319591:V401G;ENSP00000306923:V401G	ENSP00000306923:V401G	V	-	2	0	KCND3	112131156	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	1.942000	0.56320	0.459000	0.35465	GTG		0.542	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		34	41	0	0	0	1	0	34	41				
PPP3CB	5532	broad.mit.edu	37	10	75234763	75234763	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75234763T>G	ENST00000360663.5	-	4	548	c.437A>C	c.(436-438)aAg>aCg	p.K146T	PPP3CB_ENST00000394822.2_Missense_Mutation_p.K164T|PPP3CB_ENST00000394829.2_Missense_Mutation_p.K146T|PPP3CB_ENST00000545874.1_Missense_Mutation_p.K60T|PPP3CB_ENST00000394828.2_Missense_Mutation_p.K146T|PPP3CB_ENST00000342558.3_Missense_Mutation_p.K146T			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	146	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GTATAGAATCTTCAGAACCCA	0.348																																						ENST00000360663.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22						c.(436-438)aAg>aCg		protein phosphatase 3, catalytic subunit, beta isozyme							77.0	80.0	79.0					10																	75234763		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75234763T>G	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.437A>C	10.37:g.75234763T>G	ENSP00000353881:p.Lys146Thr					PPP3CB_ENST00000342558.3_Missense_Mutation_p.K146T|PPP3CB_ENST00000394829.2_Missense_Mutation_p.K146T|PPP3CB_ENST00000545874.1_Missense_Mutation_p.K60T|PPP3CB_ENST00000394822.2_Missense_Mutation_p.K164T|PPP3CB_ENST00000394828.2_Missense_Mutation_p.K146T	p.K146T			P16298	PP2BB_HUMAN			4	548	-	Prostate(51;0.0119)		146			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.437A>C	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431582	0.83776	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92	4.68	4.68	0.58851	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.172184	0.39407	N	0.001369	T	0.55242	0.1908	H	0.99874	4.875	0.80722	D	1	P;D;D;D;D	0.89917	0.632;0.967;1.0;1.0;1.0	P;P;D;D;D	0.97110	0.808;0.905;1.0;0.997;0.999	T	0.77661	-0.2504	10	0.87932	D	0	.	14.424	0.67202	0.0:0.0:0.0:1.0	.	164;60;146;146;146	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	T	146;146;146;146;60;164	ENSP00000353881:K146T;ENSP00000378306:K146T;ENSP00000378305:K146T;ENSP00000343147:K146T;ENSP00000439876:K60T;ENSP00000378299:K164T	ENSP00000343147:K146T	K	-	2	0	PPP3CB	74904769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.977000	0.88081	1.881000	0.54492	0.528000	0.53228	AAG		0.348	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		4	41	0	0	0	1	0	4	41				
UBE3A	7337	broad.mit.edu	37	15	25615832	25615832	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25615832G>A	ENST00000397954.2	-	4	1497	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	UBE3A_ENST00000438097.1_Missense_Mutation_p.R477C|UBE3A_ENST00000428984.2_Missense_Mutation_p.R477C|UBE3A_ENST00000232165.3_Missense_Mutation_p.R497C|UBE3A_ENST00000566215.1_Missense_Mutation_p.R477C|SNHG14_ENST00000554726.1_RNA			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	500	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.R500C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTGTACATGCGAATTCTATTG	0.343																																						ENST00000232165.3																			1	Substitution - Missense(1)	p.R500C(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1489-1491)Cgc>Tgc		ubiquitin protein ligase E3A							77.0	72.0	74.0					15																	25615832		2203	4298	6501	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25615832G>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1498C>T	15.37:g.25615832G>A	ENSP00000381045:p.Arg500Cys					SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.R477C|UBE3A_ENST00000428984.2_Missense_Mutation_p.R477C|UBE3A_ENST00000438097.1_Missense_Mutation_p.R477C|UBE3A_ENST00000397954.2_Missense_Mutation_p.R500C	p.R497C	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	2145	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	500			Interaction with HCV core protein.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1489C>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286829	0.59867	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.966;0.996	D	0.91061	0.4885	10	0.87932	D	0	.	19.2105	0.93753	0.0:0.0:1.0:0.0	.	497;500	Q05086-3;Q05086	.;UBE3A_HUMAN	C	497;497;500;477;477	ENSP00000232165:R497C;ENSP00000381045:R500C;ENSP00000411258:R477C;ENSP00000401265:R477C	ENSP00000232165:R497C	R	-	1	0	UBE3A	23166925	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.573000	0.74009	2.553000	0.86117	0.591000	0.81541	CGC		0.343	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		15	33	0	0	0	1	0	15	33				
HIST1H4D	8360	broad.mit.edu	37	6	26189200	26189200	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26189200G>A	ENST00000340756.2	-	1	104	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	35					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CCAGGCGGCGGATAGCGGGCT	0.572																																						ENST00000340756.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8						c.(103-105)atC>atT		histone cluster 1, H4d							39.0	45.0	43.0					6																	26189200		2203	4300	6503	SO:0001819	synonymous_variant	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26189200G>A	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.105C>T	6.37:g.26189200G>A							p.I35I	NM_003539.3	NP_003530.1	P62805	H4_HUMAN			1	104	-		all_hematologic(11;0.196)	35					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000340756.2	37	c.105C>T	CCDS4589.1																																																																																				0.572	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	NM_003539		57	21	0	0	0	1	0	57	21				
PBRM1	55193	broad.mit.edu	37	3	52610695	52610695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52610695G>A	ENST00000296302.7	-	22	3554	c.3553C>T	c.(3553-3555)Cga>Tga	p.R1185*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1160*|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R1153*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1200*			Q86U86	PB1_HUMAN	polybromo 1	1185	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1185*(3)|p.R1153*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTCCATCTCGAACCCATACT	0.338			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		4	Substitution - Nonsense(4)	p.R1185*(3)|p.R1153*(1)	kidney(4)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3457-3459)Cga>Tga		polybromo 1							76.0	73.0	74.0					3																	52610695		2202	4300	6502	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52610695G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3553C>T	3.37:g.52610695G>A	ENSP00000296302:p.Arg1185*					SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1185*	p.R1153*			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	3459	-			1185					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.3457C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.826239	0.98968	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1593	15.0475	0.71838	0.0:0.0:0.8573:0.1427	.	.	.	.	X	1153;1160;1185;1185;1185;1160;1200;1200;1184	.	ENSP00000296302:R1185X	R	-	1	2	PBRM1	52585735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.391000	0.66266	2.664000	0.90586	0.591000	0.81541	CGA		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		9	25	0	0	0	1	0	9	25				
ZMYM6	9204	broad.mit.edu	37	1	35476172	35476172	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35476172C>A	ENST00000357182.4	-	10	1595	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K456N|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K456N	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	456					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CAGAGCAATTCTTGCCACAAA	0.368																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(1366-1368)aaG>aaT		zinc finger, MYM-type 6							120.0	116.0	117.0					1																	35476172		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476172C>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1368G>T	1.37:g.35476172C>A	ENSP00000349708:p.Lys456Asn					ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K456N|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K456N	p.K456N	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			10	1595	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	456					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.1368G>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658405	0.67586	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.26067	1.76;2.91	5.65	1.47	0.22746	TRASH (1);Zinc finger, MYM-type (1);	0.219056	0.47455	D	0.000225	T	0.41949	0.1181	M	0.67953	2.075	0.37706	D	0.924409	D;P;D	0.89917	0.998;0.771;1.0	D;P;D	0.83275	0.954;0.672;0.996	T	0.37911	-0.9685	10	0.56958	D	0.05	-12.8534	6.3243	0.21234	0.1302:0.6673:0.0:0.2025	.	359;456;456	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	N	456	ENSP00000362437:K456N;ENSP00000349708:K456N	ENSP00000349708:K456N	K	-	3	2	ZMYM6	35248759	0.294000	0.24380	0.823000	0.32752	0.983000	0.72400	0.298000	0.19120	0.419000	0.25927	0.650000	0.86243	AAG		0.368	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		25	59	1	0	5.35047e-06	1	5.94462e-06	25	59				
MT-ND5	4540	broad.mit.edu	37	M	13093	13093	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrM:13093G>A	ENST00000361567.2	+	1	757	c.757G>A	c.(757-759)Gtt>Att	p.V253I	MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	253			V -> A (in MT-C1D). {ECO:0000269|PubMed:20818383}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CAAGCACTATAGTTGTAGCAG	0.522																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(757-759)Gtt>Att		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13093G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.757G>A	M.37:g.13093G>A	ENSP00000354813:p.Val253Ile						p.V253I			P03915	NU5M_HUMAN			1	757	+			253		V -> A (in MT-C1D).			Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.757G>A																																																																																					0.522	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		181	30	0	0	0	1	0	181	30				
ZNF645	158506	broad.mit.edu	37	X	22291306	22291306	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:22291306C>A	ENST00000323684.1	+	1	242	c.198C>A	c.(196-198)atC>atA	p.I66I		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	66					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CTATTAAAATCTATGGGCGAA	0.383																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(196-198)atC>atA		zinc finger protein 645							70.0	65.0	66.0					X																	22291306		2203	4300	6503	SO:0001819	synonymous_variant	158506					intracellular	zinc ion binding	g.chrX:22291306C>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.198C>A	X.37:g.22291306C>A							p.I66I	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	242	+			66					A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	c.198C>A	CCDS14205.1																																																																																				0.383	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		29	56	1	0	4.87955e-14	1	6.31333e-14	29	56				
HAS1	3036	broad.mit.edu	37	19	52216986	52216986	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52216986G>A	ENST00000222115.1	-	5	1465	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	HAS1_ENST00000601714.1_Silent_p.F484F|HAS1_ENST00000540069.2_Silent_p.F476F	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	477					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTAGCGCCAGGAACTTGGCAG	0.692																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1426-1428)ttC>ttT		hyaluronan synthase 1							12.0	10.0	11.0					19																	52216986		2093	4134	6227	SO:0001819	synonymous_variant	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52216986G>A	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1431C>T	19.37:g.52216986G>A						HAS1_ENST00000222115.1_Silent_p.F477F|HAS1_ENST00000601714.1_Silent_p.F484F	p.F476F			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1488	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	477					Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	c.1428C>T	CCDS12838.1																																																																																				0.692	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		8	14	0	0	0	1	0	8	14				
ZNF81	347344	broad.mit.edu	37	X	47775514	47775514	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47775514G>T	ENST00000376954.1	+	6	1837	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I	ZNF81_ENST00000338637.7_Missense_Mutation_p.R490I			P51508	ZNF81_HUMAN	zinc finger protein 81	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R490I(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ATGCATAAGAGAATTCATACA	0.408																																						ENST00000376954.1																			1	Substitution - Missense(1)	p.R490I(1)	large_intestine(1)	breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(1468-1470)aGa>aTa		zinc finger protein 81							43.0	43.0	43.0					X																	47775514		2201	4296	6497	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775514G>T	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1469G>T	X.37:g.47775514G>T	ENSP00000366153:p.Arg490Ile					ZNF81_ENST00000338637.7_Missense_Mutation_p.R490I	p.R490I			P51508	ZNF81_HUMAN			6	1837	+		all_lung(315;0.0973)	490					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1469G>T	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.227190	0.58668	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.24908	1.83;1.83	3.96	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34133	N	0.004234	T	0.42223	0.1193	L	0.61218	1.895	0.40405	D	0.979681	D	0.89917	1.0	D	0.79784	0.993	T	0.36016	-0.9765	10	0.62326	D	0.03	.	6.6912	0.23171	0.1278:0.0:0.8722:0.0	.	490	P51508	ZNF81_HUMAN	I	490	ENSP00000366153:R490I;ENSP00000341151:R490I	ENSP00000341151:R490I	R	+	2	0	ZNF81	47660458	0.213000	0.23551	1.000000	0.80357	0.979000	0.70002	2.941000	0.49011	2.237000	0.73441	0.544000	0.68410	AGA		0.408	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		24	43	1	0	3.83957e-06	1	4.27438e-06	24	43				
FGG	2266	broad.mit.edu	37	4	155529776	155529776	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155529776C>A	ENST00000336098.3	-	7	731	c.693G>T	c.(691-693)aaG>aaT	p.K231N	FGG_ENST00000404648.3_Missense_Mutation_p.K231N|FGG_ENST00000407946.1_Missense_Mutation_p.K239N|FGG_ENST00000405164.1_Missense_Mutation_p.K239N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	231	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)	TCCAGTTTTTCTTGAAATCTA	0.358																																						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.(691-693)aaG>aaT		fibrinogen gamma chain	Sucralfate(DB00364)						84.0	85.0	85.0					4																	155529776		2203	4299	6502	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.chr4:155529776C>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.693G>T	4.37:g.155529776C>A	ENSP00000336829:p.Lys231Asn					FGG_ENST00000336098.3_Missense_Mutation_p.K231N|FGG_ENST00000407946.1_Missense_Mutation_p.K239N|FGG_ENST00000405164.1_Missense_Mutation_p.K239N	p.K231N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			7	932	-	all_hematologic(180;0.215)	Renal(120;0.0458)	231			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.693G>T	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309814	0.23821	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	6.17	2.4	0.29515	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.362838	0.31734	N	0.007160	T	0.77322	0.4113	N	0.00033	-2.575	0.38277	D	0.94232	B;B;B;B;B	0.12013	0.005;0.0;0.002;0.005;0.002	B;B;B;B;B	0.19666	0.018;0.006;0.026;0.026;0.015	T	0.72836	-0.4172	10	0.18710	T	0.47	.	7.8811	0.29623	0.4206:0.4517:0.0:0.1277	.	128;239;231;239;231	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	N	231;239;231;239	ENSP00000384860:K231N;ENSP00000384101:K239N;ENSP00000336829:K231N;ENSP00000384552:K239N	ENSP00000336829:K231N	K	-	3	2	FGG	155749226	0.044000	0.20184	1.000000	0.80357	0.996000	0.88848	-0.541000	0.06099	0.931000	0.37242	0.655000	0.94253	AAG		0.358	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		12	24	1	0	0.00010058	1	0.000108553	12	24				
OR51G1	79324	broad.mit.edu	37	11	4945040	4945040	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4945040G>A	ENST00000321961.2	-	1	597	c.530C>T	c.(529-531)gCt>gTt	p.A177V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	177						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)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAAGCATGAGCCAGCACATG	0.522																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(529-531)gCt>gTt		olfactory receptor, family 51, subfamily G, member 1							81.0	71.0	75.0					11																	4945040		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945040G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.530C>T	11.37:g.4945040G>A	ENSP00000322546:p.Ala177Val					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.A177V	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	597	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	177					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.530C>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739669	0.30774	.	.	ENSG00000176879	ENST00000321961	T	0.36699	1.24	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.201222	0.24618	U	0.036984	T	0.42404	0.1201	L	0.55990	1.75	0.09310	N	1	P	0.51933	0.949	P	0.50537	0.643	T	0.36065	-0.9763	10	0.87932	D	0	.	11.0434	0.47844	0.0:0.0:0.8141:0.1859	.	177	Q8NGK1	O51G1_HUMAN	V	177	ENSP00000322546:A177V	ENSP00000322546:A177V	A	-	2	0	OR51G1	4901616	0.003000	0.15002	0.988000	0.46212	0.043000	0.13939	1.296000	0.33389	2.299000	0.77371	0.557000	0.71058	GCT		0.522	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		15	41	0	0	0	1	0	15	41				
RNF17	56163	broad.mit.edu	37	13	25378555	25378555	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25378555C>A	ENST00000255324.5	+	15	2131	c.2079C>A	c.(2077-2079)ttC>ttA	p.F693L	RNF17_ENST00000381921.1_Missense_Mutation_p.F693L|RNF17_ENST00000255325.6_Intron	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	693					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTGGAGATTTCTATCTTCAGT	0.274																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2077-2079)ttC>ttA		ring finger protein 17							62.0	61.0	62.0					13																	25378555		2199	4299	6498	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25378555C>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2079C>A	13.37:g.25378555C>A	ENSP00000255324:p.Phe693Leu					RNF17_ENST00000381921.1_Missense_Mutation_p.F693L|RNF17_ENST00000255325.5_Intron	p.F693L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	15	2131	+		Lung SC(185;0.0225)|Breast(139;0.077)	693					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2079C>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349054	0.61183	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.15834	2.39;2.39;2.39	5.25	3.13	0.36017	Maternal tudor protein (1);	0.062472	0.64402	D	0.000006	T	0.38480	0.1042	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.13710	-1.0499	10	0.46703	T	0.11	.	7.8196	0.29280	0.0:0.7287:0.0:0.2713	.	693;693	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	L	693;693;552;17	ENSP00000255324:F693L;ENSP00000371346:F693L;ENSP00000388892:F17L	ENSP00000255324:F693L	F	+	3	2	RNF17	24276555	0.995000	0.38212	1.000000	0.80357	0.947000	0.59692	0.201000	0.17276	1.181000	0.42912	0.591000	0.81541	TTC		0.274	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		3	12	1	0	0.004672	1	0.00483628	3	12				
PPP1R3A	5506	broad.mit.edu	37	7	113519003	113519003	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:113519003G>T	ENST00000284601.3	-	4	2212	c.2144C>A	c.(2143-2145)tCt>tAt	p.S715Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	715					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATCAGCTAGAGAAGACAGTTC	0.408																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2143-2145)tCt>tAt		protein phosphatase 1, regulatory subunit 3A							199.0	192.0	195.0					7																	113519003		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519003G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2144C>A	7.37:g.113519003G>T	ENSP00000284601:p.Ser715Tyr						p.S715Y	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2212	-			715					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2144C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593180	0.46214	.	.	ENSG00000154415	ENST00000284601	T	0.32023	1.47	5.81	4.93	0.64822	.	0.091252	0.48767	D	0.000165	T	0.52451	0.1735	M	0.68952	2.095	0.38236	D	0.941186	D	0.76494	0.999	D	0.65573	0.936	T	0.61729	-0.7003	10	0.87932	D	0	-5.6568	15.0609	0.71951	0.0681:0.0:0.9319:0.0	.	715	Q16821	PPR3A_HUMAN	Y	715	ENSP00000284601:S715Y	ENSP00000284601:S715Y	S	-	2	0	PPP1R3A	113306239	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	6.374000	0.73132	1.469000	0.48083	-0.157000	0.13467	TCT		0.408	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		37	84	1	0	1.21669e-08	1	1.44061e-08	37	84				
KMT2C	58508	broad.mit.edu	37	7	151945640	151945640	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151945640C>A	ENST00000262189.6	-	14	2097	c.1879G>T	c.(1879-1881)Gac>Tac	p.D627Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.D627Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	627					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATTTTCAGGTCTTCACTATCA	0.338																																						ENST00000355193.2																			0											c.(1879-1881)Gac>Tac		lysine (K)-specific methyltransferase 2C							50.0	48.0	49.0					7																	151945640		2203	4298	6501	SO:0001583	missense	58508							g.chr7:151945640C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1879G>T	7.37:g.151945640C>A	ENSP00000262189:p.Asp627Tyr					KMT2C_ENST00000262189.6_Missense_Mutation_p.D627Y	p.D627Y							14	2097	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1879G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	1.874	-0.459634	0.04508	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83163	-1.69;-1.69	5.23	-0.651	0.11454	.	0.469078	0.17778	N	0.162322	T	0.61135	0.2323	N	0.08118	0	0.80722	D	1	B	0.22541	0.071	B	0.09377	0.004	T	0.48445	-0.9035	10	0.66056	D	0.02	.	5.6626	0.17676	0.0:0.5439:0.1927:0.2635	.	627	Q8NEZ4	MLL3_HUMAN	Y	627	ENSP00000262189:D627Y;ENSP00000347325:D627Y	ENSP00000262189:D627Y	D	-	1	0	MLL3	151576573	0.996000	0.38824	0.055000	0.19348	0.030000	0.12068	0.403000	0.20982	0.029000	0.15352	-0.312000	0.09012	GAC		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	33	1	0	0.00024832	1	0.000265255	4	33				
PIWIL4	143689	broad.mit.edu	37	11	94322371	94322371	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94322371G>T	ENST00000299001.6	+	8	1210	c.999G>T	c.(997-999)gaG>gaT	p.E333D	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	333	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGGCACCGAGATCACCTATG	0.423																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(997-999)gaG>gaT		piwi-like RNA-mediated gene silencing 4							179.0	164.0	169.0					11																	94322371		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94322371G>T	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.999G>T	11.37:g.94322371G>T	ENSP00000299001:p.Glu333Asp					RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.E333D	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			8	1210	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	333			PAZ.		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.999G>T	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881831	0.51908	.	.	ENSG00000134627	ENST00000299001	T	0.16073	2.37	4.97	4.97	0.65823	Argonaute/Dicer protein, PAZ (4);	0.284575	0.30076	N	0.010471	T	0.18551	0.0445	L	0.42581	1.335	0.80722	D	1	B	0.12013	0.005	B	0.21546	0.035	T	0.03139	-1.1068	10	0.30854	T	0.27	-21.9954	17.3617	0.87353	0.0:0.0:1.0:0.0	.	333	Q7Z3Z4	PIWL4_HUMAN	D	333	ENSP00000299001:E333D	ENSP00000299001:E333D	E	+	3	2	PIWIL4	93962019	0.984000	0.35163	0.975000	0.42487	0.972000	0.66771	0.431000	0.21444	2.440000	0.82611	0.561000	0.74099	GAG		0.423	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		20	45	1	0	2.4624e-09	1	2.95225e-09	20	45				
WDR89	112840	broad.mit.edu	37	14	64066363	64066363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64066363G>A	ENST00000394942.2	-	2	386	c.298C>T	c.(298-300)Cga>Tga	p.R100*	WDR89_ENST00000267522.3_Nonsense_Mutation_p.R100*|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	100										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CTGGCTACTCGAGCATCCCAG	0.383																																						ENST00000394942.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14						c.(298-300)Cga>Tga		WD repeat domain 89							53.0	51.0	51.0					14																	64066363		2203	4300	6503	SO:0001587	stop_gained	112840							g.chr14:64066363G>A	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.298C>T	14.37:g.64066363G>A	ENSP00000378399:p.Arg100*					WDR89_ENST00000267522.3_Nonsense_Mutation_p.R100*	p.R100*	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	2	386	-			100						Nonsense_Mutation	SNP	ENST00000394942.2	37	c.298C>T	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685289	0.47991	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	.	.	.	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0058	0.64463	0.0:0.0:0.7248:0.2752	.	.	.	.	X	100	.	ENSP00000267522:R100X	R	-	1	2	WDR89	63136116	1.000000	0.71417	0.963000	0.40424	0.109000	0.19521	7.039000	0.76544	1.517000	0.48917	-0.169000	0.13324	CGA		0.383	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		10	24	0	0	0	1	0	10	24				
ERMP1	79956	broad.mit.edu	37	9	5805106	5805106	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5805106C>A	ENST00000339450.5	-	10	1924	c.1835G>T	c.(1834-1836)aGa>aTa	p.R612I	ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.R190I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	612						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AGAACCACTTCTCCCGAGGAT	0.383																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1834-1836)aGa>aTa		endoplasmic reticulum metallopeptidase 1							89.0	82.0	84.0					9																	5805106		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5805106C>A	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1835G>T	9.37:g.5805106C>A	ENSP00000340427:p.Arg612Ile					ERMP1_ENST00000543230.1_Missense_Mutation_p.R190I|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Intron	p.R612I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	10	1924	-		Acute lymphoblastic leukemia(23;0.158)	612					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1835G>T	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078336	0.94000	.	.	ENSG00000099219	ENST00000339450;ENST00000543230	T;T	0.28069	1.63;1.63	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58148	-0.7687	10	0.87932	D	0	-20.5408	19.8327	0.96642	0.0:1.0:0.0:0.0	.	612	Q7Z2K6	ERMP1_HUMAN	I	612;190	ENSP00000340427:R612I;ENSP00000439368:R190I	ENSP00000340427:R612I	R	-	2	0	ERMP1	5795106	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.487000	0.81328	2.686000	0.91538	0.591000	0.81541	AGA		0.383	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		9	47	1	0	2.17888e-05	1	2.39107e-05	9	47				
PROM2	150696	broad.mit.edu	37	2	95950732	95950732	+	Missense_Mutation	SNP	C	C	T	rs553459907		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:95950732C>T	ENST00000317620.9	+	15	1877	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	PROM2_ENST00000317668.4_Missense_Mutation_p.R582W|PROM2_ENST00000542147.1_Intron|PROM2_ENST00000403131.2_Missense_Mutation_p.R582W	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	582					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CAACAAGCTACGGCAGGAGTT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17713	0.001		0.0	False		,,,				2504	0.0					ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1744-1746)Cgg>Tgg		prominin 2							33.0	30.0	31.0					2																	95950732		2203	4299	6502	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95950732C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1744C>T	2.37:g.95950732C>T	ENSP00000318270:p.Arg582Trp					PROM2_ENST00000317668.4_Missense_Mutation_p.R582W|PROM2_ENST00000542147.1_Intron|PROM2_ENST00000403131.2_Missense_Mutation_p.R582W	p.R582W	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			15	1877	+			582					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1744C>T	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	8.245	0.807747	0.16467	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620	T;T;T	0.44881	0.91;0.91;0.91	4.35	1.39	0.22231	.	0.549033	0.17264	N	0.180667	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.56958	D	0.05	-2.6235	8.3516	0.32305	0.0:0.5884:0.3185:0.0931	.	582	Q8N271	PROM2_HUMAN	W	582	ENSP00000385716:R582W;ENSP00000318520:R582W;ENSP00000318270:R582W	ENSP00000318270:R582W	R	+	1	2	PROM2	95314459	0.022000	0.18835	0.001000	0.08648	0.000000	0.00434	-0.029000	0.12329	-0.148000	0.11234	-1.598000	0.00824	CGG		0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		8	9	0	0	0	1	0	8	9				
TSR1	55720	broad.mit.edu	37	17	2227591	2227591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:2227591G>A	ENST00000301364.5	-	15	3393	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	772					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGGAAGACTCGTTTATACAGG	0.443																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(2314-2316)Cga>Tga		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							153.0	139.0	144.0					17																	2227591		2203	4300	6503	SO:0001587	stop_gained	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2227591G>A	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.2314C>T	17.37:g.2227591G>A	ENSP00000301364:p.Arg772*					SRR_ENST00000344595.5_3'UTR	p.R772*	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN			15	3393	-			772					Q8WUY5|Q9NVT0|Q9P2E6	Nonsense_Mutation	SNP	ENST00000301364.5	37	c.2314C>T	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	G	47	13.445505	0.99742	.	.	ENSG00000167721	ENST00000301364	.	.	.	4.92	1.65	0.23941	.	0.052460	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1348	13.0116	0.58733	0.0:0.0:0.5606:0.4394	.	.	.	.	X	772	.	ENSP00000301364:R772X	R	-	1	2	TSR1	2174341	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.489000	0.53237	0.088000	0.17205	0.655000	0.94253	CGA		0.443	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		32	50	0	0	0	1	0	32	50				
SCAP	22937	broad.mit.edu	37	3	47456433	47456433	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47456433C>T	ENST00000265565.5	-	20	3602	c.3190G>A	c.(3190-3192)Gac>Aac	p.D1064N	SCAP_ENST00000545718.1_Missense_Mutation_p.D671N|SCAP_ENST00000441517.2_Missense_Mutation_p.D808N	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1064	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCCACTGTGTCGCTGCTGCTG	0.597																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3190-3192)Gac>Aac		SREBF chaperone							45.0	51.0	49.0					3																	47456433		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47456433C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3190G>A	3.37:g.47456433C>T	ENSP00000265565:p.Asp1064Asn					SCAP_ENST00000545718.1_Missense_Mutation_p.D671N|SCAP_ENST00000441517.2_Missense_Mutation_p.D808N	p.D1064N	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	20	3602	-			1064			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.3190G>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161903	0.57368	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.81415	-1.49;-1.39;0.75	5.4	4.52	0.55395	WD40 repeat-like-containing domain (1);	0.095278	0.64402	N	0.000001	T	0.70272	0.3205	L	0.29908	0.895	0.52099	D	0.999944	B;B	0.22211	0.066;0.003	B;B	0.14023	0.01;0.003	T	0.66858	-0.5817	10	0.42905	T	0.14	-20.8908	13.0195	0.58777	0.0:0.921:0.0:0.079	.	808;1064	F8W921;Q12770	.;SCAP_HUMAN	N	556;690;1064;808;671	ENSP00000265565:D1064N;ENSP00000416847:D808N;ENSP00000438956:D671N	ENSP00000265565:D1064N	D	-	1	0	SCAP	47431437	0.988000	0.35896	0.434000	0.26772	0.549000	0.35272	2.364000	0.44187	1.474000	0.48178	0.655000	0.94253	GAC		0.597	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		4	68	0	0	0	1	0	4	68				
SKA2	348235	broad.mit.edu	37	17	57196697	57196697	+	Missense_Mutation	SNP	T	T	C	rs199733352		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57196697T>C	ENST00000330137.7	-	3	385	c.280A>G	c.(280-282)Aag>Gag	p.K94E	SKA2_ENST00000583927.1_Intron|AC099850.1_ENST00000451775.1_RNA|SKA2_ENST00000583380.1_Missense_Mutation_p.K94E|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000578105.1_Missense_Mutation_p.K65E	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	94					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			lung(4)	4						TCTGTTTGCTTCTGTAGTTTT	0.378																																						ENST00000330137.7																			0				lung(4)	4						c.(280-282)Aag>Gag		spindle and kinetochore associated complex subunit 2							137.0	122.0	127.0					17																	57196697		1850	4093	5943	SO:0001583	missense	348235				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr17:57196697T>C	BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"""family with sequence similarity 33, member A"""	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.280A>G	17.37:g.57196697T>C	ENSP00000333433:p.Lys94Glu					SKA2_ENST00000578105.1_Missense_Mutation_p.K65E|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000583380.1_Missense_Mutation_p.K94E	p.K94E	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN			3	385	-			94					A6NIL3|B3KPL3|E9PCB8	Missense_Mutation	SNP	ENST00000330137.7	37	c.280A>G	CCDS45747.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	11.78	1.742118	0.30865	.	.	ENSG00000182628	ENST00000330137	T	0.27720	1.65	5.05	3.97	0.46021	.	0.352028	0.33553	N	0.004796	T	0.40670	0.1126	M	0.63428	1.95	0.29806	N	0.832015	D	0.61697	0.99	P	0.55087	0.768	T	0.35226	-0.9797	10	0.41790	T	0.15	.	8.6029	0.33756	0.0:0.0:0.3245:0.6755	.	94	Q8WVK7	SKA2_HUMAN	E	94	ENSP00000333433:K94E	ENSP00000333433:K94E	K	-	1	0	SKA2	54551479	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	3.429000	0.52800	1.886000	0.54624	0.383000	0.25322	AAG		0.378	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1	NM_182620		15	32	0	0	0	1	0	15	32				
SLCO1A2	6579	broad.mit.edu	37	12	21453329	21453329	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21453329T>G	ENST00000307378.6	-	9	1583	c.863A>C	c.(862-864)gAc>gCc	p.D288A	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.D288A|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.D286A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	288					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 membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTTTTGTTTGTCTTCATTTTC	0.318																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(862-864)gAc>gCc		solute carrier organic anion transporter family, member 1A2							94.0	96.0	95.0					12																	21453329		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21453329T>G		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.863A>C	12.37:g.21453329T>G	ENSP00000305974:p.Asp288Ala					SLCO1A2_ENST00000458504.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.D286A|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.D288A	p.D288A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			9	1583	-			288					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.863A>C	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	T	6.188	0.402765	0.11696	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.1	5.1	0.69264	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.966960	0.01706	N	0.027425	T	0.34337	0.0894	N	0.14661	0.345	0.27435	N	0.953883	B;B;B	0.25206	0.12;0.019;0.079	B;B;B	0.32928	0.05;0.02;0.155	T	0.31752	-0.9932	10	0.15499	T	0.54	.	11.2504	0.49022	0.0:0.0744:0.0:0.9256	.	268;286;288	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	A	288;288;156;156;286	ENSP00000305974:D288A;ENSP00000393973:D288A;ENSP00000394854:D156A;ENSP00000439401:D156A;ENSP00000375088:D286A	ENSP00000305974:D288A	D	-	2	0	SLCO1A2	21344596	0.998000	0.40836	0.775000	0.31657	0.147000	0.21601	1.091000	0.30915	2.057000	0.61298	0.460000	0.39030	GAC		0.318	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		8	16	0	0	0	1	0	8	16				
GRPEL2	134266	broad.mit.edu	37	5	148730559	148730559	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:148730559C>T	ENST00000329271.3	+	4	502	c.392C>T	c.(391-393)tCg>tTg	p.S131L	GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_Missense_Mutation_p.R104W	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	131					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAAGAATCGGAGCCTGAG	0.473																																						ENST00000329271.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(391-393)tCg>tTg		GrpE-like 2, mitochondrial (E. coli)							93.0	96.0	95.0					5																	148730559		2203	4300	6503	SO:0001583	missense	134266				protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity	g.chr5:148730559C>T	AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.392C>T	5.37:g.148730559C>T	ENSP00000329558:p.Ser131Leu					GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_Missense_Mutation_p.R104W|RP11-394O4.4_ENST00000521295.1_RNA	p.S131L	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	502	+			131					B4DFA6|Q49AJ6	Missense_Mutation	SNP	ENST00000329271.3	37	c.392C>T	CCDS4295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.81|11.81	1.751155|1.751155	0.31046|0.31046	.|.	.|.	ENSG00000164284|ENSG00000164284	ENST00000416916|ENST00000329271	.|.	.|.	.|.	5.95|5.95	4.16|4.16	0.48862|0.48862	.|GrpE nucleotide exchange factor, coiled-coil (1);	.|0.479485	.|0.20383	.|N	.|0.093417	T|T	0.22898|0.22898	0.0553|0.0553	N|N	0.11560|0.11560	0.145|0.145	0.21802|0.21802	N|N	0.999537|0.999537	D|B	0.54964|0.21688	0.969|0.059	P|B	0.46975|0.16289	0.533|0.015	T|T	0.14337|0.14337	-1.0476|-1.0476	8|9	0.72032|0.28530	D|T	0.01|0.3	-14.1287|-14.1287	10.2609|10.2609	0.43425|0.43425	0.0:0.7938:0.1354:0.0708|0.0:0.7938:0.1354:0.0708	.|.	104|131	B4DFA6|Q8TAA5	.|GRPE2_HUMAN	W|L	104|131	.|.	ENSP00000397302:R104W|ENSP00000329558:S131L	R|S	+|+	1|2	2|0	GRPEL2|GRPEL2	148710752|148710752	0.174000|0.174000	0.23070|0.23070	0.992000|0.992000	0.48379|0.48379	0.313000|0.313000	0.28021|0.28021	3.358000|3.358000	0.52284|0.52284	0.835000|0.835000	0.34877|0.34877	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.473	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252327.1	NM_152407		46	87	0	0	0	1	0	46	87				
ZNF268	10795	broad.mit.edu	37	12	133781007	133781007	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133781007G>T	ENST00000536435.2	+	6	3065	c.2735G>T	c.(2734-2736)aGa>aTa	p.R912I	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.R751I|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.R912I	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	912					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|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)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCACATCAGAGAACACATACA	0.418																																						ENST00000536435.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(2734-2736)aGa>aTa		zinc finger protein 268							72.0	70.0	70.0					12																	133781007		692	1591	2283	SO:0001583	missense	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133781007G>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.2735G>T	12.37:g.133781007G>T	ENSP00000444412:p.Arg912Ile					ZNF268_ENST00000228289.5_Missense_Mutation_p.R912I|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.R751I	p.R912I	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	3065	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	912					Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	c.2735G>T	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290983	0.59976	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565	T;T	0.24908	1.83;1.83	3.86	2.0	0.26442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38692	0.1050	M	0.64404	1.975	0.34365	D	0.691469	D	0.63880	0.993	D	0.63703	0.917	T	0.49799	-0.8901	8	.	.	.	.	5.495	0.16797	0.2041:0.1712:0.6247:0.0	.	912	Q14587	ZN268_HUMAN	I	912;912;751	ENSP00000228289:R912I;ENSP00000445713:R751I	.	R	+	2	0	ZNF268	.	0.000000	0.05858	0.755000	0.31263	0.987000	0.75469	0.616000	0.24344	0.966000	0.38159	0.591000	0.81541	AGA		0.418	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		4	11	1	0	0.014758	1	0.015099	4	11				
DNAH5	1767	broad.mit.edu	37	5	13866373	13866373	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13866373C>T	ENST00000265104.4	-	26	4176	c.4072G>A	c.(4072-4074)Ggc>Agc	p.G1358S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1358	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCTTCAAGCCGCTAGCCATT	0.318									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4072-4074)Ggc>Agc		dynein, axonemal, heavy chain 5							24.0	30.0	28.0					5																	13866373		2195	4295	6490	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13866373C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4072G>A	5.37:g.13866373C>T	ENSP00000265104:p.Gly1358Ser					CTB-51A17.1_ENST00000503244.1_RNA	p.G1358S	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			26	4176	-	Lung NSC(4;0.00476)		1358			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4072G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929166	0.92389	.	.	ENSG00000039139	ENST00000265104	T	0.23147	1.92	5.9	5.03	0.67393	.	0.052102	0.85682	D	0.000000	T	0.55305	0.1912	M	0.90369	3.11	0.80722	D	1	D	0.65815	0.995	P	0.61658	0.892	T	0.65529	-0.6146	10	0.56958	D	0.05	.	14.9099	0.70749	0.0:0.9318:0.0:0.0682	.	1358	Q8TE73	DYH5_HUMAN	S	1358	ENSP00000265104:G1358S	ENSP00000265104:G1358S	G	-	1	0	DNAH5	13919373	1.000000	0.71417	0.776000	0.31678	0.896000	0.52359	7.413000	0.80104	1.496000	0.48567	0.650000	0.86243	GGC		0.318	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	12	0	0	0	1	0	10	12				
LAMB3	3914	broad.mit.edu	37	1	209799080	209799080	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209799080T>G	ENST00000356082.4	-	14	2023	c.1889A>C	c.(1888-1890)aAg>aCg	p.K630T	MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000391911.1_Missense_Mutation_p.K630T|LAMB3_ENST00000367030.3_Missense_Mutation_p.K630T	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	630	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGCTCAATCTTACTCTTTGC	0.612																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1888-1890)aAg>aCg		laminin, beta 3							75.0	73.0	74.0					1																	209799080		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209799080T>G	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1889A>C	1.37:g.209799080T>G	ENSP00000348384:p.Lys630Thr					LAMB3_ENST00000356082.4_Missense_Mutation_p.K630T|LAMB3_ENST00000367030.3_Missense_Mutation_p.K630T	p.K630T	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2278	-			630			Domain II.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1889A>C	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	T	2.367	-0.345138	0.05208	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.39406	1.08;1.08;1.08	5.07	1.12	0.20585	.	0.790990	0.12313	N	0.480058	T	0.24044	0.0582	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.16928	-1.0386	10	0.49607	T	0.09	.	4.4974	0.11844	0.0:0.26:0.3069:0.4331	.	630	Q13751	LAMB3_HUMAN	T	630	ENSP00000375778:K630T;ENSP00000348384:K630T;ENSP00000355997:K630T	ENSP00000348384:K630T	K	-	2	0	LAMB3	207865703	0.030000	0.19436	0.086000	0.20670	0.010000	0.07245	0.061000	0.14366	0.778000	0.33520	0.449000	0.29647	AAG		0.612	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		31	65	0	0	0	1	0	31	65				
TRBV4-2	28616	broad.mit.edu	37	7	142045611	142045611	+	RNA	SNP	G	G	T	rs374910682	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142045611G>T	ENST00000390392.3	+	0	250									T cell receptor beta variable 4-2																		ACAACATCTGGGGCATAACGC	0.458													.|||	2	0.000399361	0.0	0.0	5008	,	,		18556	0.0		0.002	False		,,,				2504	0.0					ENST00000390392.3																			0															G		0,3972		0,0,1986	187.0	213.0	205.0			2.4	0.0	7		205	2,8362		0,2,4180	no	intergenic				0,2,6166	TT,TG,GG		0.0239,0.0,0.0162			142045611	2,12334	1986	4182	6168			0							g.chr7:142045611G>T	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045611G>T														0	250	+									RNA	SNP	ENST00000390392.3	37																																																																																						0.458	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		47	82	1	0	2.47872e-24	1	3.47838e-24	47	82				
CSMD3	114788	broad.mit.edu	37	8	113960026	113960026	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113960026C>A	ENST00000297405.5	-	9	1745	c.1501G>T	c.(1501-1503)Gat>Tat	p.D501Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D501Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D461Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D397Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	501	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTAAAATCTGATCCGATT	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1501-1503)Gat>Tat		CUB and Sushi multiple domains 3							69.0	71.0	70.0					8																	113960026		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113960026C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1501G>T	8.37:g.113960026C>A	ENSP00000297405:p.Asp501Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.D461Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D397Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D501Y	p.D501Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			9	1745	-			501			Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1501G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158070	0.57368	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.19	5.19	0.71726	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.51041	0.1651	M	0.61703	1.905	0.46901	D	0.99924	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.993	T	0.51787	-0.8661	10	0.72032	D	0.01	.	19.082	0.93186	0.0:1.0:0.0:0.0	.	397;501;461	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	461;501;397;501	ENSP00000345799:D461Y;ENSP00000297405:D501Y;ENSP00000412263:D397Y;ENSP00000343124:D501Y	ENSP00000297405:D501Y	D	-	1	0	CSMD3	114029202	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.124000	0.77185	2.584000	0.87258	0.555000	0.69702	GAT		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	8	1	0	0.00909568	1	0.00935351	4	8				
KIAA1257	57501	broad.mit.edu	37	3	128696954	128696954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:128696954C>A	ENST00000265068.5	-	5	909	c.742G>T	c.(742-744)Gag>Tag	p.E248*	KIAA1257_ENST00000511438.1_Nonsense_Mutation_p.E248*|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Nonsense_Mutation_p.E136*	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	248										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TGGTTCGACTCTTCTCTGACA	0.418																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(742-744)Gag>Tag		KIAA1257							181.0	176.0	177.0					3																	128696954		1938	4131	6069	SO:0001587	stop_gained	57501							g.chr3:128696954C>A	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.742G>T	3.37:g.128696954C>A	ENSP00000265068:p.Glu248*					KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Nonsense_Mutation_p.E248*|KIAA1257_ENST00000515659.1_Nonsense_Mutation_p.E136*	p.E248*	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			5	909	-			248					Q8IXY7|Q8N5T4	Nonsense_Mutation	SNP	ENST00000265068.5	37	c.742G>T	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717402	0.96839	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.78	-0.108	0.13588	.	0.796286	0.10943	N	0.617066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-0.359	6.159	0.20354	0.0:0.528:0.0:0.472	.	.	.	.	X	248;248;136	.	ENSP00000265068:E248X	E	-	1	0	KIAA1257	130179644	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.115000	0.15540	0.072000	0.16694	0.467000	0.42956	GAG		0.418	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		11	41	1	0	2.27111e-07	1	2.60515e-07	11	41				
DENND1B	163486	broad.mit.edu	37	1	197704925	197704925	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197704925C>A	ENST00000367396.3	-	3	252				DENND1B_ENST00000235453.4_De_novo_Start_InFrame|DENND1B_ENST00000400967.2_5'Flank|DENND1B_ENST00000477581.1_5'UTR	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B						positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CTGGACTGTCCTCTACAGAAA	0.468																																						ENST00000235453.4																			0				NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22								DENN/MADD domain containing 1B																																				SO:0001627	intron_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197704925C>A	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.83-20721G>T	1.37:g.197704925C>A						DENND1B_ENST00000367396.3_Intron|DENND1B_ENST00000477581.1_5'UTR				Q6P3S1	DEN1B_HUMAN			0	120	-								B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Translation_Start_Site	SNP	ENST00000367396.3	37		CCDS41452.2																																																																																				0.468	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		9	23	1	0	1.12685e-05	1	1.24509e-05	9	23				
CYB5R4	51167	broad.mit.edu	37	6	84649908	84649908	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84649908T>G	ENST00000369681.5	+	13	1382	c.1242T>G	c.(1240-1242)acT>acG	p.T414T	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	414					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATGCTTTGACTGATATACCCA	0.333																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1240-1242)acT>acG		cytochrome b5 reductase 4							75.0	76.0	76.0					6																	84649908		2203	4300	6503	SO:0001819	synonymous_variant	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84649908T>G	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1242T>G	6.37:g.84649908T>G						CYB5R4_ENST00000479164.1_3'UTR	p.T414T	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	13	1382	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	414					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP	ENST00000369681.5	37	c.1242T>G	CCDS5000.2																																																																																				0.333	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		10	38	0	0	0	1	0	10	38				
TMEM183A	92703	broad.mit.edu	37	1	202985262	202985262	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202985262T>G	ENST00000367242.3	+	5	782	c.702T>G	c.(700-702)aaT>aaG	p.N234K	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	234						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CATTAAAGAATTCCAAAGTAA	0.458																																						ENST00000367242.3																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7						c.(700-702)aaT>aaG		transmembrane protein 183A							74.0	77.0	76.0					1																	202985262		2203	4300	6503	SO:0001583	missense	92703							g.chr1:202985262T>G	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.702T>G	1.37:g.202985262T>G	ENSP00000356211:p.Asn234Lys					TMEM183A_ENST00000468449.1_3'UTR	p.N234K	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			BRCA - Breast invasive adenocarcinoma(75;0.18)		5	782	+								A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	c.702T>G	CCDS1432.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147658	0.57151	.	.	ENSG00000163444	ENST00000367242	T	0.21031	2.03	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.67145	0.988;0.996;0.974;0.988	P;P;P;P	0.61658	0.806;0.892;0.663;0.806	T	0.02852	-1.1102	10	0.14656	T	0.56	-16.9464	15.3888	0.74726	0.0:0.0:0.0:1.0	.	234;234;234;234	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	K	234	ENSP00000356211:N234K	ENSP00000356211:N234K	N	+	3	2	TMEM183A	201251885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.638000	0.61353	2.164000	0.68074	0.533000	0.62120	AAT		0.458	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		49	68	0	0	0	1	0	49	68				
KIAA1456	57604	broad.mit.edu	37	8	12878856	12878856	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:12878856G>A	ENST00000524591.2	+	5	1157	c.668G>A	c.(667-669)aGa>aAa	p.R223K	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	223							methyltransferase activity (GO:0008168)	p.R223I(1)|p.R136I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCTATGGCAAGAACCTGTTTT	0.428																																						ENST00000524591.2																			2	Substitution - Missense(2)	p.R223I(1)|p.R136I(1)	large_intestine(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(667-669)aGa>aAa		KIAA1456							121.0	110.0	113.0					8																	12878856		1863	4110	5973	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12878856G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.668G>A	8.37:g.12878856G>A	ENSP00000432695:p.Arg223Lys					KIAA1456_ENST00000447063.2_Intron	p.R223K	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			5	1157	+			223					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.668G>A	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	1.018	-0.685862	0.03328	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.09723	2.95	5.67	3.79	0.43588	.	1.196990	0.06034	N	0.653696	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	0.999999	B	0.23937	0.094	B	0.22386	0.039	T	0.38178	-0.9673	10	0.05721	T	0.95	-2.6913	7.289	0.26356	0.1352:0.2694:0.5954:0.0	.	223	Q9P272	K1456_HUMAN	K	223;136	ENSP00000432695:R223K	ENSP00000432695:R223K	R	+	2	0	AC135352.2	12923227	0.002000	0.14202	0.023000	0.16930	0.479000	0.33129	1.185000	0.32065	0.794000	0.33899	0.650000	0.86243	AGA		0.428	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		25	70	0	0	0	1	0	25	70				
PELO	53918	broad.mit.edu	37	5	52096521	52096521	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52096521C>T	ENST00000274311.2	+	2	1278	c.293C>T	c.(292-294)gCt>gTt	p.A98V	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	98					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AAGATGGGGGCTTACCACACC	0.582																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(292-294)gCt>gTt		pelota homolog (Drosophila)							68.0	65.0	66.0					5																	52096521		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096521C>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.293C>T	5.37:g.52096521C>T	ENSP00000274311:p.Ala98Val					PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron	p.A98V	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			2	1278	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	98					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.293C>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001639	0.93227	.	.	ENSG00000152684	ENST00000274311	T	0.47869	0.83	5.66	5.66	0.87406	eRF1 domain 1/Pelota-like (1);	0.000000	0.85682	U	0.000000	T	0.76630	0.4014	H	0.94385	3.53	0.80722	D	1	D	0.63880	0.993	P	0.62089	0.898	T	0.81728	-0.0800	10	0.49607	T	0.09	-9.0001	19.3658	0.94461	0.0:1.0:0.0:0.0	.	98	Q9BRX2	PELO_HUMAN	V	98	ENSP00000274311:A98V	ENSP00000274311:A98V	A	+	2	0	PELO	52132278	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.360000	0.66086	2.665000	0.90641	0.563000	0.77884	GCT		0.582	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		23	34	0	0	0	1	0	23	34				
SSX7	280658	broad.mit.edu	37	X	52681946	52681946	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:52681946C>A	ENST00000298181.5	-	3	316	c.158G>T	c.(157-159)aGa>aTa	p.R53I		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	53	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CTCATACTTTCTCTTCATATA	0.393																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.(157-159)aGa>aTa		synovial sarcoma, X breakpoint 7							154.0	119.0	131.0					X																	52681946		2203	4299	6502	SO:0001583	missense	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681946C>A	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.158G>T	X.37:g.52681946C>A	ENSP00000298181:p.Arg53Ile						p.R53I	NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN			3	316	-	Ovarian(276;0.236)		53			KRAB-related.			Missense_Mutation	SNP	ENST00000298181.5	37	c.158G>T	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	0.032	-1.330920	0.01298	.	.	ENSG00000187754	ENST00000298181	T	0.00848	5.62	0.56	-1.12	0.09808	Krueppel-associated box (2);Krueppel-associated box-related (1);	0.119136	0.38778	N	0.001578	T	0.00784	0.0026	L	0.38953	1.18	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.55244	-0.8171	9	0.62326	D	0.03	.	.	.	.	.	53	Q7RTT5	SSX7_HUMAN	I	53	ENSP00000298181:R53I	ENSP00000298181:R53I	R	-	2	0	SSX7	52698671	0.305000	0.24481	0.003000	0.11579	0.003000	0.03518	-0.091000	0.11146	-3.608000	0.00133	-3.537000	0.00031	AGA		0.393	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		36	66	1	0	6.97489e-18	1	9.40748e-18	36	66				
HBD	3045	broad.mit.edu	37	11	5254275	5254275	+	Missense_Mutation	SNP	C	C	A	rs148878316	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5254275C>A	ENST00000380299.3	-	3	577	c.363G>T	c.(361-363)aaG>aaT	p.K121N	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	121					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTGAATTCCTTGCCAAAGT	0.512																																						ENST00000380299.3																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16						c.(361-363)aaG>aaT		hemoglobin, delta							139.0	117.0	124.0					11																	5254275		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5254275C>A	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.363G>T	11.37:g.5254275C>A	ENSP00000369654:p.Lys121Asn					HBD_ENST00000292901.3_Intron	p.K121N	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	577	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	121					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.363G>T	CCDS31376.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.451|7.451	0.642669|0.642669	0.14451|0.14451	.|.	.|.	ENSG00000223609|ENSG00000223609	ENST00000380299|ENST00000417377	D|D	0.93763|0.89050	-3.28|-2.46	4.81|4.81	-5.04|-5.04	0.02964|0.02964	Globin-like (1);Globin, structural domain (1);|.	1.190200|.	0.05791|.	N|.	0.610313|.	D|D	0.86707|0.86707	0.5997|0.5997	M|M	0.76328|0.76328	2.33|2.33	0.21064|0.21064	N|N	0.999792|0.999792	B|.	0.11235|.	0.004|.	B|.	0.18561|.	0.022|.	T|T	0.78763|0.78763	-0.2077|-0.2077	10|7	0.62326|0.87932	D|D	0.03|0	-1.1355|-1.1355	0.8159|0.8159	0.01102|0.01102	0.2436:0.245:0.1196:0.3918|0.2436:0.245:0.1196:0.3918	.|.	121|.	P02042|.	HBD_HUMAN|.	N|M	121|47	ENSP00000369654:K121N|ENSP00000414741:R47M	ENSP00000369654:K121N|ENSP00000414741:R47M	K|R	-|-	3|2	2|0	HBD|HBD	5210851|5210851	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.037000|0.037000	0.13140|0.13140	-1.620000|-1.620000	0.02046|0.02046	-0.857000|-0.857000	0.04115|0.04115	0.655000|0.655000	0.94253|0.94253	AAG|AGG		0.512	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		32	58	1	0	2.85442e-18	1	3.86477e-18	32	58				
VPS11	55823	broad.mit.edu	37	11	118952233	118952233	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118952233A>C	ENST00000300793.6	+	17	2765	c.2723A>C	c.(2722-2724)aAa>aCa	p.K908T	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	909					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GTTTTCAACAAATTGACTCTG	0.532																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(2722-2724)aAa>aCa		vacuolar protein sorting 11 homolog (S. cerevisiae)							90.0	96.0	94.0					11																	118952233		2014	4173	6187	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118952233A>C	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2723A>C	11.37:g.118952233A>C	ENSP00000475301:p.Lys908Thr					VPS11_ENST00000527798.1_3'UTR	p.K908T	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	17	2765	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	909					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.2723A>C																																																																																					0.532	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		6	104	0	0	0	1	0	6	104				
MAST1	22983	broad.mit.edu	37	19	12958187	12958187	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12958187C>T	ENST00000251472.4	+	5	450	c.411C>T	c.(409-411)ttC>ttT	p.F137F	MAST1_ENST00000591495.1_Silent_p.F133F	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAAACACTTCGGGAGCACCG	0.677											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(409-411)ttC>ttT		microtubule associated serine/threonine kinase 1							78.0	66.0	70.0					19																	12958187		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12958187C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.411C>T	19.37:g.12958187C>T			OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	MAST1_ENST00000591495.1_Silent_p.F133F	p.F137F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			5	450	+			137						Silent	SNP	ENST00000251472.4	37	c.411C>T	CCDS32921.1																																																																																				0.677	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		25	48	0	0	0	1	0	25	48				
ZMAT1	84460	broad.mit.edu	37	X	101139766	101139766	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101139766C>A	ENST00000372782.3	-	7	680	c.633G>T	c.(631-633)aaG>aaT	p.K211N	ZMAT1_ENST00000540921.1_Missense_Mutation_p.K211N|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.K40N	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	211						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCTTGAATTCTTCACTAGAT	0.313																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(631-633)aaG>aaT		zinc finger, matrin-type 1							138.0	126.0	130.0					X																	101139766		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139766C>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.633G>T	X.37:g.101139766C>A	ENSP00000361868:p.Lys211Asn					ZMAT1_ENST00000458570.1_Missense_Mutation_p.K40N|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K211N	p.K211N	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			7	680	-			40					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.633G>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760511	0.49468	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.29917	2.11;2.11;1.55	4.35	2.51	0.30379	.	1.477610	0.04217	N	0.332917	T	0.52725	0.1752	M	0.73962	2.25	0.26746	N	0.970307	D	0.76494	0.999	D	0.65233	0.933	T	0.07233	-1.0783	10	0.56958	D	0.05	-6.739	5.5131	0.16892	0.0:0.6173:0.0:0.3827	.	211	Q5H9K5	ZMAT1_HUMAN	N	211;211;40	ENSP00000361868:K211N;ENSP00000437529:K211N;ENSP00000413044:K40N	ENSP00000361868:K211N	K	-	3	2	ZMAT1	101026422	0.997000	0.39634	0.990000	0.47175	0.951000	0.60555	0.331000	0.19733	0.520000	0.28426	0.526000	0.51066	AAG		0.313	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			45	93	1	0	9.39024e-22	1	1.29924e-21	45	93				
GRIA3	2892	broad.mit.edu	37	X	122561805	122561805	+	Missense_Mutation	SNP	C	C	T	rs137852351		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122561805C>T	ENST00000371251.1	+	12	1943	c.1891C>T	c.(1891-1893)Cgc>Tgc	p.R631C	GRIA3_ENST00000542149.1_Missense_Mutation_p.R631C|GRIA3_ENST00000264357.5_Missense_Mutation_p.R631C|GRIA3_ENST00000371256.5_Missense_Mutation_p.R631C			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	631			R -> S (in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics). {ECO:0000269|PubMed:17989220}.		glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.R631C(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ACTCTCCGGGCGCATTGTTGG	0.438																																						ENST00000264357.5																			2	Substitution - Missense(2)	p.R631C(2)	large_intestine(2)	breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57	GRCh37	CM074897	GRIA3	M	rs137852351	c.(1891-1893)Cgc>Tgc		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						138.0	123.0	128.0					X																	122561805		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122561805C>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1891C>T	X.37:g.122561805C>T	ENSP00000360297:p.Arg631Cys					GRIA3_ENST00000542149.1_Missense_Mutation_p.R631C|GRIA3_ENST00000371251.1_Missense_Mutation_p.R631C|GRIA3_ENST00000371256.5_Missense_Mutation_p.R631C	p.R631C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			12	2183	+			631		R -> S (in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics).			D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1891C>T	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427346	0.62733	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.36	4.37	0.52481	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.92881	0.6323	10	0.87932	D	0	.	12.0012	0.53232	0.2805:0.7195:0.0:0.0	.	631;631	P42263;P42263-2	GRIA3_HUMAN;.	C	631	ENSP00000264357:R631C;ENSP00000446146:R631C;ENSP00000360302:R631C;ENSP00000360297:R631C	ENSP00000264357:R631C	R	+	1	0	GRIA3	122389486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.243000	0.43115	2.367000	0.80283	0.600000	0.82982	CGC		0.438	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		15	113	0	0	0	1	0	15	113				
RGS14	10636	broad.mit.edu	37	5	176798548	176798548	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176798548C>T	ENST00000408923.3	+	14	1644	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	486					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGAAGGTGCCCAGTAGTGC	0.577																																					NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1456-1458)Ccc>Tcc		regulator of G-protein signaling 14							102.0	112.0	109.0					5																	176798548		2003	4179	6182	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176798548C>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1456C>T	5.37:g.176798548C>T	ENSP00000386229:p.Pro486Ser					RGS14_ENST00000506944.1_3'UTR	p.P486S	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1644	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	486					O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.1456C>T	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635353	0.29068	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	T	0.38240	1.15	4.33	0.389	0.16269	.	0.649699	0.14029	N	0.346319	T	0.13415	0.0325	N	0.12182	0.205	0.09310	N	1	B;B;B	0.21821	0.061;0.011;0.0	B;B;B	0.20384	0.029;0.029;0.003	T	0.25222	-1.0138	10	0.07175	T	0.84	-4.3454	1.459	0.02391	0.1446:0.4414:0.1504:0.2637	.	257;334;486	B3KUX0;O43566-5;O43566	.;.;RGS14_HUMAN	S	486;267	ENSP00000386229:P486S	ENSP00000336864:P267S	P	+	1	0	RGS14	176731154	0.000000	0.05858	0.000000	0.03702	0.500000	0.33767	-0.155000	0.10115	-0.118000	0.11851	-0.262000	0.10625	CCC		0.577	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		74	122	0	0	0	1	0	74	122				
ERC2	26059	broad.mit.edu	37	3	56468995	56468995	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56468995C>T	ENST00000288221.6	-	2	296	c.41G>A	c.(40-42)aGc>aAc	p.S14N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	14						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTGGAAGGGCTACCTTCCAG	0.463																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(40-42)aGc>aAc		ELKS/RAB6-interacting/CAST family member 2							109.0	103.0	105.0					3																	56468995		1902	4128	6030	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468995C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.41G>A	3.37:g.56468995C>T	ENSP00000288221:p.Ser14Asn						p.S14N	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	296	-			14					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.41G>A	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920490	0.73213	.	.	ENSG00000187672	ENST00000288221	T	0.45668	0.89	5.46	4.58	0.56647	.	0.078589	0.85682	D	0.000000	T	0.29458	0.0734	L	0.29908	0.895	0.44579	D	0.997542	P	0.37466	0.596	B	0.26864	0.074	T	0.06954	-1.0798	10	0.40728	T	0.16	-20.3517	16.552	0.84474	0.0:0.8693:0.1307:0.0	.	14	O15083	ERC2_HUMAN	N	14	ENSP00000288221:S14N	ENSP00000288221:S14N	S	-	2	0	ERC2	56444035	1.000000	0.71417	0.320000	0.25306	0.959000	0.62525	7.744000	0.85034	1.402000	0.46780	0.655000	0.94253	AGC		0.463	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		7	33	0	0	0	1	0	7	33				
MAPK9	5601	broad.mit.edu	37	5	179676006	179676006	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:179676006C>T	ENST00000452135.2	-	6	881	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	MAPK9_ENST00000347470.4_Missense_Mutation_p.E195K|MAPK9_ENST00000343111.6_Missense_Mutation_p.E195K|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.E195K|MAPK9_ENST00000455781.1_Missense_Mutation_p.E195K|MAPK9_ENST00000393360.3_Missense_Mutation_p.E195K|MAPK9_ENST00000425491.2_Missense_Mutation_p.E195K|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|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)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGATGACTTCGGGCGCCCGG	0.552																																						ENST00000452135.2																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(583-585)Gaa>Aaa		mitogen-activated protein kinase 9							228.0	244.0	239.0					5																	179676006		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179676006C>T	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.583G>A	5.37:g.179676006C>T	ENSP00000394560:p.Glu195Lys					MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.E195K|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.E195K|MAPK9_ENST00000539014.1_Missense_Mutation_p.E195K|MAPK9_ENST00000343111.6_Missense_Mutation_p.E195K|MAPK9_ENST00000455781.1_Missense_Mutation_p.E195K|MAPK9_ENST00000425491.2_Missense_Mutation_p.E195K	p.E195K			P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	881	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	195			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.583G>A	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373383	0.95923	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75;-3.75;-3.75	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115168	0.64402	D	0.000020	D	0.98880	0.9621	H	0.98951	4.38	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0	D;D;D;D;D	0.77004	0.956;0.936;0.972;0.972;0.989	D	0.99274	1.0894	10	0.87932	D	0	-20.759	19.6612	0.95875	0.0:1.0:0.0:0.0	.	195;195;195;195;195	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	K	195	ENSP00000394560:E195K;ENSP00000377028:E195K;ENSP00000389338:E195K;ENSP00000345524:E195K;ENSP00000321410:E195K;ENSP00000397422:E195K;ENSP00000443149:E195K	ENSP00000345524:E195K	E	-	1	0	MAPK9	179608612	1.000000	0.71417	0.949000	0.38748	0.551000	0.35334	7.711000	0.84669	2.639000	0.89480	0.650000	0.86243	GAA		0.552	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			27	367	0	0	0	1	0	27	367				
C19orf12	83636	broad.mit.edu	37	19	30193874	30193874	+	Silent	SNP	G	G	A	rs372589316		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:30193874G>A	ENST00000392278.2	-	3	330	c.204C>T	c.(202-204)gtC>gtT	p.V68V	C19orf12_ENST00000323670.9_Silent_p.V57V|C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000592153.1_Silent_p.V57V	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	68					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.V68V(1)				Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			ACAGCCCCCCGACAGCCCCCC	0.522																																						ENST00000323670.9																			1	Substitution - coding silent(1)	p.V68V(1)	endometrium(1)								c.(169-171)gtC>gtT		chromosome 19 open reading frame 12		G	,	1,4405	2.1+/-5.4	0,1,2202	62.0	69.0	67.0		204,171	-2.9	0.1	19		67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C19orf12	NM_001031726.2,NM_031448.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	68/153,57/142	30193874	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83636					integral to membrane		g.chr19:30193874G>A	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.204C>T	19.37:g.30193874G>A						C19orf12_ENST00000392278.2_Silent_p.V68V|C19orf12_ENST00000592153.1_Silent_p.V57V|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392276.1_5'UTR	p.V57V	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		3	310	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		57					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Silent	SNP	ENST00000392278.2	37	c.171C>T	CCDS42542.1																																																																																				0.522	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		42	73	0	0	0	1	0	42	73				
GRPR	2925	broad.mit.edu	37	X	16170395	16170395	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:16170395G>A	ENST00000380289.2	+	3	1180	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	261					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCCCGGAAGCGACTTGCCAAG	0.517																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(781-783)cGa>cAa		gastrin-releasing peptide receptor							107.0	96.0	100.0					X																	16170395		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170395G>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.782G>A	X.37:g.16170395G>A	ENSP00000369643:p.Arg261Gln						p.R261Q	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			3	1180	+	Hepatocellular(33;0.183)		261					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.782G>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065530	0.93898	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.40225	1.04	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63094	0.2482	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66516	-0.5904	10	0.72032	D	0.01	-10.4669	16.8049	0.85623	0.0:0.0:1.0:0.0	.	261	P30550	GRPR_HUMAN	Q	261;50	ENSP00000369643:R261Q	ENSP00000369643:R261Q	R	+	2	0	GRPR	16080316	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.173000	0.68751	0.600000	0.82982	CGA		0.517	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		47	91	0	0	0	1	0	47	91				
ASCC3	10973	broad.mit.edu	37	6	101248328	101248328	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:101248328T>G	ENST00000369162.2	-	6	1319	c.975A>C	c.(973-975)caA>caC	p.Q325H	ASCC3_ENST00000522650.1_Missense_Mutation_p.Q325H	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	325					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)		GAATAGTGACTTGACAACCAT	0.303																																						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.(973-975)caA>caC		activating signal cointegrator 1 complex subunit 3							93.0	86.0	88.0					6																	101248328		2200	4298	6498	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.chr6:101248328T>G	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.975A>C	6.37:g.101248328T>G	ENSP00000358159:p.Gln325His					ASCC3_ENST00000522650.1_Missense_Mutation_p.Q325H	p.Q325H	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)	6	1319	-		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)	325					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.975A>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.815098	0.70912	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.60672	0.17;0.17	5.51	5.51	0.81932	.	0.135137	0.51477	D	0.000084	T	0.68970	0.3059	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.71184	0.972;0.907	T	0.71474	-0.4582	10	0.46703	T	0.11	.	15.6243	0.76840	0.0:0.0:0.0:1.0	.	325;325	E7EW23;Q8N3C0	.;HELC1_HUMAN	H	325	ENSP00000358159:Q325H;ENSP00000430769:Q325H	ENSP00000358159:Q325H	Q	-	3	2	ASCC3	101355049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.957000	0.56730	2.091000	0.63221	0.459000	0.35465	CAA		0.303	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		11	11	0	0	0	1	0	11	11				
TMTC3	160418	broad.mit.edu	37	12	88542259	88542259	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88542259T>C	ENST00000266712.6	+	2	387	c.167T>C	c.(166-168)tTc>tCc	p.F56S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	56					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAAAATGACTTCTGGGGAACC	0.313																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(166-168)tTc>tCc		transmembrane and tetratricopeptide repeat containing 3							79.0	76.0	77.0					12																	88542259		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88542259T>C		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.167T>C	12.37:g.88542259T>C	ENSP00000266712:p.Phe56Ser						p.F56S	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			2	387	+			56					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.167T>C	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678558	0.88542	.	.	ENSG00000139324	ENST00000549011;ENST00000266712;ENST00000551088	D;T	0.91792	-2.91;-0.53	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.96691	0.8920	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97541	1.0086	10	0.87932	D	0	-13.129	15.4472	0.75240	0.0:0.0:0.0:1.0	.	56	Q6ZXV5-2	.	S	56	ENSP00000447640:F56S;ENSP00000266712:F56S	ENSP00000266712:F56S	F	+	2	0	TMTC3	87066390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.010000	0.88615	2.063000	0.61619	0.477000	0.44152	TTC		0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		10	15	0	0	0	1	0	10	15				
G6PC3	92579	broad.mit.edu	37	17	42152412	42152412	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42152412C>A	ENST00000269097.4	+	4	723	c.492C>A	c.(490-492)atC>atA	p.I164I		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	164					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GAATCTTCATCTTAGCACATT	0.552																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(490-492)atC>atA		glucose 6 phosphatase, catalytic, 3							222.0	210.0	214.0					17																	42152412		2203	4300	6503	SO:0001819	synonymous_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42152412C>A	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.492C>A	17.37:g.42152412C>A							p.I164I	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	723	+		Breast(137;0.00637)|Prostate(33;0.0313)	164					Q8WU15	Silent	SNP	ENST00000269097.4	37	c.492C>A	CCDS11476.1																																																																																				0.552	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		49	118	1	0	6.03219e-31	1	8.6264e-31	49	118				
ZFR	51663	broad.mit.edu	37	5	32404114	32404114	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32404114G>T	ENST00000265069.8	-	7	1223	c.1121C>A	c.(1120-1122)tCt>tAt	p.S374Y		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	374					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CCCACGAGTAGAACTGTTGCT	0.423																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(1120-1122)tCt>tAt		zinc finger RNA binding protein							195.0	186.0	189.0					5																	32404114		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32404114G>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1121C>A	5.37:g.32404114G>T	ENSP00000265069:p.Ser374Tyr						p.S374Y	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	7	1223	-			374					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.1121C>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961210	0.53400	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.42513	0.97	5.73	5.73	0.89815	.	0.765078	0.13371	N	0.392889	T	0.53126	0.1777	M	0.80183	2.485	0.54753	D	0.999988	P	0.44578	0.838	B	0.41691	0.364	T	0.61436	-0.7063	10	0.72032	D	0.01	.	18.0665	0.89392	0.0:0.0:1.0:0.0	.	374	Q96KR1	ZFR_HUMAN	Y	374;352	ENSP00000265069:S374Y	ENSP00000265069:S374Y	S	-	2	0	ZFR	32439871	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.515000	0.60489	2.707000	0.92482	0.555000	0.69702	TCT		0.423	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			20	53	1	0	0.000132079	1	0.000142521	20	53				
TNKS1BP1	85456	broad.mit.edu	37	11	57077055	57077055	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57077055C>A	ENST00000532437.1	-	5	3441	c.3130G>T	c.(3130-3132)Gac>Tac	p.D1044Y	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D1044Y			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1044	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCTCTGGTCTCTCTGCCCG	0.652																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3130-3132)Gac>Tac		tankyrase 1 binding protein 1, 182kDa							88.0	83.0	85.0					11																	57077055		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077055C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3130G>T	11.37:g.57077055C>A	ENSP00000437271:p.Asp1044Tyr					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D1044Y	p.D1044Y			Q9C0C2	TB182_HUMAN			5	3441	-		all_epithelial(135;0.21)	1044			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3130G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161325	0.57368	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.36520	1.25;1.25	5.05	4.13	0.48395	.	0.282958	0.25014	N	0.033809	T	0.50103	0.1596	M	0.64997	1.995	0.31778	N	0.631296	D	0.69078	0.997	D	0.63192	0.912	T	0.59984	-0.7351	10	0.87932	D	0	-10.0545	7.7397	0.28835	0.0:0.809:0.0:0.191	.	1044	Q9C0C2	TB182_HUMAN	Y	1044	ENSP00000350990:D1044Y;ENSP00000437271:D1044Y	ENSP00000350990:D1044Y	D	-	1	0	TNKS1BP1	56833631	0.004000	0.15560	0.744000	0.31058	0.798000	0.45092	0.827000	0.27421	1.132000	0.42129	0.462000	0.41574	GAC		0.652	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		43	69	1	0	3.05275e-18	1	4.13032e-18	43	69				
DOK5	55816	broad.mit.edu	37	20	53171574	53171574	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:53171574C>A	ENST00000262593.5	+	2	519	c.169C>A	c.(169-171)Cat>Aat	p.H57N	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	57	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CAGGTGTTATCATAAGGTAAG	0.373																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(169-171)Cat>Aat		docking protein 5							90.0	90.0	90.0					20																	53171574		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53171574C>A	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.169C>A	20.37:g.53171574C>A	ENSP00000262593:p.His57Asn					DOK5_ENST00000395939.1_5'UTR	p.H57N	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		2	519	+			57			PH.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.169C>A	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069782	0.76301	.	.	ENSG00000101134	ENST00000262593	T	0.71698	-0.59	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	L	0.48642	1.525	0.80722	D	1	P	0.49559	0.925	D	0.65140	0.932	T	0.78011	-0.2371	10	0.44086	T	0.13	2.3779	18.5509	0.91065	0.0:1.0:0.0:0.0	.	57	Q9P104	DOK5_HUMAN	N	57	ENSP00000262593:H57N	ENSP00000262593:H57N	H	+	1	0	DOK5	52604981	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.385000	0.73182	2.722000	0.93159	0.643000	0.83706	CAT		0.373	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			11	14	1	0	7.93312e-07	1	8.98086e-07	11	14				
EPG5	57724	broad.mit.edu	37	18	43523145	43523145	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:43523145C>T	ENST00000282041.5	-	9	1959	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	642					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATAACCAATTCGCTTCACAAA	0.433																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(1924-1926)cGa>cAa		ectopic P-granules autophagy protein 5 homolog (C. elegans)							160.0	156.0	157.0					18																	43523145		1908	4117	6025	SO:0001583	missense	57724				autophagy			g.chr18:43523145C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1925G>A	18.37:g.43523145C>T	ENSP00000282041:p.Arg642Gln						p.R642Q	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			9	1959	-			642					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1925G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	35	5.503237	0.96371	.	.	ENSG00000152223	ENST00000282041	T	0.13196	2.61	5.53	5.53	0.82687	.	0.060132	0.64402	D	0.000004	T	0.39279	0.1072	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.11690	-1.0577	10	0.87932	D	0	-7.1625	19.4587	0.94906	0.0:1.0:0.0:0.0	.	642;642	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	Q	642	ENSP00000282041:R642Q	ENSP00000282041:R642Q	R	-	2	0	EPG5	41777143	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.601000	0.82783	2.593000	0.87608	0.455000	0.32223	CGA		0.433	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		37	73	0	0	0	1	0	37	73				
IGHMBP2	3508	broad.mit.edu	37	11	68696697	68696697	+	Silent	SNP	C	C	T	rs137852670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68696697C>T	ENST00000255078.3	+	8	1218	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	369	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAGCTACTTCGACGTGGTGG	0.642																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	GRCh37	CM042368	IGHMBP2	M	rs137852670	c.(1105-1107)ttC>ttT		immunoglobulin mu binding protein 2							112.0	106.0	108.0					11																	68696697		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68696697C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1107C>T	11.37:g.68696697C>T							p.F369F	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		8	1218	+			369			Leu-rich.		A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.1107C>T	CCDS8187.1																																																																																				0.642	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		46	76	0	0	0	1	0	46	76				
MED13	9969	broad.mit.edu	37	17	60040120	60040120	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:60040120G>A	ENST00000397786.2	-	21	5133	c.5057C>T	c.(5056-5058)tCt>tTt	p.S1686F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1686					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACCTGTACAGAAACAGTACT	0.368																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(5056-5058)tCt>tTt		mediator complex subunit 13							134.0	125.0	128.0					17																	60040120		1862	4094	5956	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60040120G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5057C>T	17.37:g.60040120G>A	ENSP00000380888:p.Ser1686Phe						p.S1686F	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			21	5133	-			1686					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5057C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111826	0.37242	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.81499	-1.5	5.05	5.05	0.67936	.	0.051577	0.85682	D	0.000000	T	0.74427	0.3715	L	0.41961	1.31	0.80722	D	1	B	0.14438	0.01	B	0.19391	0.025	T	0.69335	-0.5172	10	0.10111	T	0.7	-3.5116	18.3975	0.90504	0.0:0.0:1.0:0.0	.	1686	Q9UHV7	MED13_HUMAN	F	1686;1685	ENSP00000380888:S1686F	ENSP00000262436:S1685F	S	-	2	0	MED13	57394902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.408000	0.73285	2.340000	0.79590	0.563000	0.77884	TCT		0.368	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		20	47	0	0	0	1	0	20	47				
DEPDC5	9681	broad.mit.edu	37	22	32289731	32289731	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32289731C>T	ENST00000382112.3	+	38	4240	c.4170C>T	c.(4168-4170)ttC>ttT	p.F1390F	DEPDC5_ENST00000400249.2_Silent_p.F1368F|DEPDC5_ENST00000382111.2_Silent_p.F1399F|DEPDC5_ENST00000400246.1_Silent_p.F1399F|DEPDC5_ENST00000400248.2_Silent_p.F1368F|DEPDC5_ENST00000535622.1_Silent_p.F1299F|DEPDC5_ENST00000266091.3_Silent_p.F1377F|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000539165.1_Silent_p.F216F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1399					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGTACTCTTCGAGATGGTGA	0.483																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4195-4197)ttC>ttT		DEP domain containing 5							63.0	66.0	65.0					22																	32289731		2046	4191	6237	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32289731C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4170C>T	22.37:g.32289731C>T						DEPDC5_ENST00000535622.1_Silent_p.F1299F|DEPDC5_ENST00000400248.1_Silent_p.F1368F|DEPDC5_ENST00000266091.3_Silent_p.F1377F|DEPDC5_ENST00000400249.2_Silent_p.F1368F|DEPDC5_ENST00000382112.3_Silent_p.F1390F|DEPDC5_ENST00000539165.1_Silent_p.F216F|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382111.2_Silent_p.F1399F	p.F1399F			O75140	DEPD5_HUMAN			39	4339	+			1368	L -> P (in Ref. 6; CAH18159).				A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.4197C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216426	0.22373	.	.	ENSG00000100150	ENST00000433147	.	.	.	5.12	-5.1	0.02911	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1987	0.73116	0.0:0.1565:0.0:0.8435	.	.	.	.	X	775	.	.	R	+	1	2	DEPDC5	30619731	0.026000	0.19158	0.987000	0.45799	0.972000	0.66771	-1.008000	0.03663	-0.634000	0.05538	-0.140000	0.14226	CGA		0.483	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		26	31	0	0	0	1	0	26	31				
ZNF354B	117608	broad.mit.edu	37	5	178310994	178310994	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310994G>T	ENST00000322434.3	+	5	1767	c.1541G>T	c.(1540-1542)aGa>aTa	p.R514I	ZNF354B_ENST00000522714.1_3'UTR|RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATCACCAGAGAATTCATACT	0.393																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1540-1542)aGa>aTa		zinc finger protein 354B							100.0	96.0	97.0					5																	178310994		2203	4300	6503	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310994G>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1541G>T	5.37:g.178310994G>T	ENSP00000327143:p.Arg514Ile					ZNF354B_ENST00000522714.1_3'UTR	p.R514I	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1767	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	514					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.1541G>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.779146	0.49891	.	.	ENSG00000178338	ENST00000322434	T	0.24908	1.83	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40909	0.1136	M	0.67397	2.05	0.44162	D	0.996964	D	0.69078	0.997	D	0.64237	0.923	T	0.21381	-1.0247	9	0.46703	T	0.11	-36.4305	6.9101	0.24331	0.1251:0.0:0.8749:0.0	.	514	Q96LW1	Z354B_HUMAN	I	514	ENSP00000327143:R514I	ENSP00000327143:R514I	R	+	2	0	ZNF354B	178243600	0.002000	0.14202	0.996000	0.52242	0.918000	0.54935	0.627000	0.24506	1.894000	0.54839	0.555000	0.69702	AGA		0.393	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		25	51	1	0	5.35356e-11	1	6.62625e-11	25	51				
BTN2A3P	54718	broad.mit.edu	37	6	26428198	26428198	+	RNA	SNP	A	A	C	rs142784664	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26428198A>C	ENST00000466808.2	+	0	1167							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											TGGATCAACAATCTCCAAAAG	0.413																																						ENST00000466808.2																			0																				121.0	113.0	116.0					6																	26428198		2203	4300	6503			0							g.chr6:26428198A>C	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26428198A>C														0	1167	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.413	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		12	67	0	0	0	1	0	12	67				
ALG13	79868	broad.mit.edu	37	X	111003114	111003114	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111003114G>T	ENST00000394780.3	+	27	3313	c.3301G>T	c.(3301-3303)Gtt>Ttt	p.V1101F	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.V918F	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1101					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CTGGCATCCAGTTGGTACAGC	0.498																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(3301-3303)Gtt>Ttt		ALG13, UDP-N-acetylglucosaminyltransferase subunit							110.0	84.0	92.0					X																	111003114		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:111003114G>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3301G>T	X.37:g.111003114G>T	ENSP00000378260:p.Val1101Phe					ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.V918F	p.V1101F	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			27	3313	+			1101					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.3301G>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311039	0.40895	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.57273	1.44;0.41	5.81	2.46	0.29980	.	1.000500	0.08066	N	0.999046	T	0.52075	0.1712	L	0.50333	1.59	0.09310	N	1	P;P;P	0.47253	0.834;0.61;0.892	B;B;P	0.47573	0.316;0.168;0.55	T	0.40979	-0.9534	10	0.66056	D	0.02	-4.2756	5.7383	0.18079	0.3488:0.0:0.5178:0.1333	.	1023;1101;918	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	F	918;1101;655	ENSP00000251943:V918F;ENSP00000378260:V1101F	ENSP00000251943:V918F	V	+	1	0	ALG13	110889770	0.929000	0.31497	0.978000	0.43139	0.683000	0.39861	0.830000	0.27462	0.521000	0.28445	-0.208000	0.12717	GTT		0.498	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		17	26	1	0	2.48551e-13	1	3.17925e-13	17	26				
RHPN2	85415	broad.mit.edu	37	19	33490569	33490569	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:33490569G>A	ENST00000254260.3	-	10	1183	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	RHPN2_ENST00000400226.4_Missense_Mutation_p.S232F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	383	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GTAGAGCTGGGACAGGCACTT	0.597																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1147-1149)tCc>tTc		rhophilin, Rho GTPase binding protein 2							87.0	70.0	75.0					19																	33490569		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33490569G>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1148C>T	19.37:g.33490569G>A	ENSP00000254260:p.Ser383Phe					RHPN2_ENST00000400226.4_Missense_Mutation_p.S232F	p.S383F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			10	1183	-	Esophageal squamous(110;0.137)		383			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1148C>T	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027148	0.75390	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.18338	2.22;2.22	4.72	3.68	0.42216	BRO1 domain (2);	0.054691	0.85682	D	0.000000	T	0.36991	0.0987	M	0.83692	2.655	0.58432	D	0.999995	D	0.53151	0.958	P	0.54060	0.741	T	0.42481	-0.9449	10	0.62326	D	0.03	0.8748	14.2947	0.66304	0.0:0.0:0.8501:0.1499	.	383	Q8IUC4	RHPN2_HUMAN	F	383;113;232	ENSP00000254260:S383F;ENSP00000402244:S232F	ENSP00000254260:S383F	S	-	2	0	RHPN2	38182409	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.144000	0.77357	0.977000	0.38444	-0.466000	0.05196	TCC		0.597	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		4	64	0	0	0	1	0	4	64				
BFAR	51283	broad.mit.edu	37	16	14761493	14761493	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:14761493A>G	ENST00000261658.2	+	8	1439	c.1162A>G	c.(1162-1164)Acc>Gcc	p.T388A	BFAR_ENST00000563971.1_Splice_Site_p.T263A|BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Splice_Site_p.T260A	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	388					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TTGTTTCAGGACCGTGCCTCA	0.557																																						ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.e8-1		bifunctional apoptosis regulator							113.0	113.0	113.0					16																	14761493		2197	4300	6497	SO:0001630	splice_region_variant	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14761493A>G	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1161-1A>G	16.37:g.14761493A>G						BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Splice_Site_p.T263_splice|BFAR_ENST00000426842.2_Splice_Site_p.T260_splice	p.T388_splice	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			8	1439	+			388					A8K4Z9|B4DUT0|D3DUG8	Splice_Site	SNP	ENST00000261658.2	37	c.1160_splice	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356211	0.61293	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.50001	3.09;0.76	5.59	5.59	0.84812	.	0.172968	0.51477	D	0.000082	T	0.34978	0.0916	N	0.19112	0.55	0.42105	D	0.991352	B;B;B	0.34372	0.243;0.451;0.451	B;B;B	0.31869	0.055;0.137;0.137	T	0.34875	-0.9811	10	0.72032	D	0.01	.	14.938	0.70973	1.0:0.0:0.0:0.0	.	260;388;388	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	A	388;260	ENSP00000261658:T388A;ENSP00000400634:T260A	ENSP00000261658:T388A	T	+	1	0	BFAR	14668994	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.882000	0.69714	2.121000	0.65114	0.460000	0.39030	ACC		0.557	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561	Missense_Mutation	28	65	0	0	0	1	0	28	65				
MYSM1	114803	broad.mit.edu	37	1	59160818	59160818	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:59160818T>C	ENST00000472487.1	-	2	169	c.130A>G	c.(130-132)Aca>Gca	p.T44A		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	44					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CCATTCTCTGTTCTCCAAGAT	0.274																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(130-132)Aca>Gca		Myb-like, SWIRM and MPN domains 1							51.0	51.0	51.0					1																	59160818		1818	4060	5878	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59160818T>C	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.130A>G	1.37:g.59160818T>C	ENSP00000418734:p.Thr44Ala						p.T44A	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			2	169	-	all_cancers(7;9.36e-06)		44					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.130A>G	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515630	0.44763	.	.	ENSG00000162601	ENST00000472487	T	0.23147	1.92	5.05	3.92	0.45320	.	0.397285	0.26673	N	0.023094	T	0.17152	0.0412	L	0.27053	0.805	0.30895	N	0.729961	B	0.13594	0.008	B	0.12156	0.007	T	0.08310	-1.0728	10	0.45353	T	0.12	-2.4004	8.5354	0.33360	0.0:0.0886:0.0:0.9114	.	44	Q5VVJ2	MYSM1_HUMAN	A	44	ENSP00000418734:T44A	ENSP00000418734:T44A	T	-	1	0	MYSM1	58933406	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	2.257000	0.43240	0.937000	0.37394	0.460000	0.39030	ACA		0.274	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		8	9	0	0	0	1	0	8	9				
CD1A	909	broad.mit.edu	37	1	158225933	158225933	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158225933G>A	ENST00000289429.5	+	3	998	c.465G>A	c.(463-465)ggG>ggA	p.G155G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	155					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.G155G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGTGGCTGGGAATATGGCCA	0.443																																						ENST00000289429.5																			1	Substitution - coding silent(1)	p.G155G(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(463-465)ggG>ggA		CD1a molecule	Antithymocyte globulin(DB00098)						111.0	98.0	102.0					1																	158225933		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158225933G>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.465G>A	1.37:g.158225933G>A							p.G155G	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			3	998	+	all_hematologic(112;0.0378)		155					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.465G>A	CCDS1174.1																																																																																				0.443	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		29	61	0	0	0	1	0	29	61				
PEG3	5178	broad.mit.edu	37	19	57326134	57326134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57326134G>A	ENST00000326441.9	-	10	4039	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.R1226*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.R1100*|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.R1102*|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1226					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R1226>?(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAAGGCATCGAATGGCCGAC	0.502																																						ENST00000326441.9																			2	Complex(2)	p.R1226>?(2)	large_intestine(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3676-3678)Cga>Tga		paternally expressed 3							85.0	80.0	82.0					19																	57326134		2203	4300	6503	SO:0001587	stop_gained	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326134G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3676C>T	19.37:g.57326134G>A	ENSP00000326581:p.Arg1226*					PEG3_ENST00000598410.1_Nonsense_Mutation_p.R1102*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.R1226*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.R1100*|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	p.R1226*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	4039	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1226					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	SNP	ENST00000326441.9	37	c.3676C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	42	9.777933	0.99261	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	.	.	.	4.06	1.86	0.25419	.	0.483882	0.15597	N	0.254134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-4.4024	7.7786	0.29051	0.0:0.1495:0.6369:0.2136	.	.	.	.	X	1226	.	ENSP00000326581:R1226X	R	-	1	2	ZIM2	62017946	0.000000	0.05858	0.001000	0.08648	0.959000	0.62525	-0.814000	0.04486	0.617000	0.30160	0.655000	0.94253	CGA		0.502	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			30	48	0	0	0	1	0	30	48				
PDS5B	23047	broad.mit.edu	37	13	33332303	33332303	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33332303A>C	ENST00000315596.10	+	27	3321	c.3135A>C	c.(3133-3135)gaA>gaC	p.E1045D		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1045					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGATGGTAGAAAATATTAAAC	0.264																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(3133-3135)gaA>gaC		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							54.0	54.0	54.0					13																	33332303		1800	4048	5848	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33332303A>C	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3135A>C	13.37:g.33332303A>C	ENSP00000313851:p.Glu1045Asp						p.E1045D	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	27	3321	+		Lung SC(185;0.0367)	1045					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.3135A>C	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443468	0.83993	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77831	0.4189	M	0.71581	2.175	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.77520	-0.2557	9	0.39692	T	0.17	-32.7077	15.7398	0.77882	1.0:0.0:0.0:0.0	.	1045	Q9NTI5	PDS5B_HUMAN	D	1045	.	ENSP00000313851:E1045D	E	+	3	2	PDS5B	32230303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.444000	0.60001	2.105000	0.64084	0.460000	0.39030	GAA		0.264	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		15	27	0	0	0	1	0	15	27				
TTN	7273	broad.mit.edu	37	2	179517234	179517234	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179517234C>A	ENST00000591111.1	-	157	34781	c.34557G>T	c.(34555-34557)aaG>aaT	p.K11519N	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K13026N|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10592N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11491	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCACTTTCTTTTCAGGAA	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(39076-39078)aaG>aaT		titin							89.0	98.0	95.0					2																	179517234		1813	4067	5880	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179517234C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34557G>T	2.37:g.179517234C>A	ENSP00000465570:p.Lys11519Asn					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K10592N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11519N	p.K13026N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		202	39302	-			11380			Ig-like 86.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39078G>T		.	.	.	.	.	.	.	.	.	.	C	13.24	2.178100	0.38511	.	.	ENSG00000155657	ENST00000342992	D	0.81499	-1.5	5.22	5.22	0.72569	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.78799	0.4340	M	0.76170	2.325	0.80722	D	1	B	0.23058	0.079	B	0.19391	0.025	T	0.77940	-0.2399	9	0.87932	D	0	.	9.4856	0.38928	0.0:0.7799:0.144:0.0761	.	11519	Q8WZ42	TITIN_HUMAN	N	10592	ENSP00000343764:K10592N	ENSP00000343764:K10592N	K	-	3	2	TTN	179225479	0.119000	0.22226	1.000000	0.80357	0.905000	0.53344	0.393000	0.20817	2.457000	0.83068	0.644000	0.83932	AAG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		49	103	1	0	4.86159e-25	1	6.8376e-25	49	103				
CTAGE9	643854	broad.mit.edu	37	6	132030936	132030936	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132030936A>C	ENST00000314099.8	-	1	1270	c.1222T>G	c.(1222-1224)Tac>Gac	p.Y408D	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	408						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TCTATTCGGTAATTTTCCTCC	0.368																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(1222-1224)Tac>Gac		CTAGE family, member 9							13.0	16.0	15.0					6																	132030936		691	1576	2267	SO:0001583	missense	643854					integral to membrane		g.chr6:132030936A>C		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1222T>G	6.37:g.132030936A>C	ENSP00000395587:p.Tyr408Asp					ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	p.Y408D	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN			1	1270	-			408						Missense_Mutation	SNP	ENST00000314099.8	37	c.1222T>G	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	0.070	-1.203458	0.01581	.	.	ENSG00000236761	ENST00000314099	T	0.37584	1.19	.	.	.	.	.	.	.	.	T	0.11196	0.0273	L	0.48986	1.54	0.24311	N	0.995082	B	0.06786	0.001	B	0.10450	0.005	T	0.31806	-0.9930	8	0.33940	T	0.23	.	4.4758	0.11739	0.9992:0.0:8.0E-4:0.0	.	408	A4FU28	CTGE9_HUMAN	D	408	ENSP00000395587:Y408D	ENSP00000395587:Y408D	Y	-	1	0	CTAGE9	132072629	0.999000	0.42202	0.000000	0.03702	0.000000	0.00434	1.324000	0.33712	-0.000000	0.14550	0.000000	0.15137	TAC		0.368	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		15	30	0	0	0	1	0	15	30				
CEP152	22995	broad.mit.edu	37	15	49083511	49083511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49083511C>A	ENST00000380950.2	-	8	1082	c.895G>T	c.(895-897)Gaa>Taa	p.E299*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.E206*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.E299*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	299					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATCTCTCTTTCTTTTCCATTC	0.338																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(895-897)Gaa>Taa		centrosomal protein 152kDa							130.0	116.0	120.0					15																	49083511		1823	4078	5901	SO:0001587	stop_gained	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49083511C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.895G>T	15.37:g.49083511C>A	ENSP00000370337:p.Glu299*					CEP152_ENST00000399334.3_Nonsense_Mutation_p.E299*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.E206*	p.E299*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	8	1082	-		all_lung(180;0.0428)	299					E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	ENST00000380950.2	37	c.895G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	39	7.531010	0.98342	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	.	.	.	5.56	4.63	0.57726	.	0.149139	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-18.0857	16.3917	0.83542	0.0:0.8682:0.1318:0.0	.	.	.	.	X	299;206;299;299	.	ENSP00000321000:E206X	E	-	1	0	CEP152	46870803	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.308000	0.72820	1.325000	0.45301	0.655000	0.94253	GAA		0.338	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		13	15	1	0	1.5842e-08	1	1.87418e-08	13	15				
KIF5C	3800	broad.mit.edu	37	2	149818500	149818500	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149818500G>T	ENST00000435030.1	+	11	1352	c.984G>T	c.(982-984)aaG>aaT	p.K328N	KIF5C_ENST00000397413.1_Missense_Mutation_p.K96N|KIF5C_ENST00000414838.2_Missense_Mutation_p.K233N|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	328					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGACCATCAAGAATACAGTCT	0.358																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(982-984)aaG>aaT		kinesin family member 5C							113.0	103.0	106.0					2																	149818500		1823	4093	5916	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149818500G>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.984G>T	2.37:g.149818500G>T	ENSP00000393379:p.Lys328Asn					KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.K96N|KIF5C_ENST00000414838.2_Missense_Mutation_p.K233N	p.K328N			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	11	1352	+			328			Kinesin-motor.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.984G>T		.	.	.	.	.	.	.	.	.	.	G	22.6	4.311810	0.81358	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000450621;ENST00000397413	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.83	4.83	0.62350	Kinesin, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	.	.	.	0.58432	D	0.999999	D	0.54397	0.966	P	0.54140	0.743	D	0.84685	0.0719	9	0.66056	D	0.02	.	18.1903	0.89805	0.0:0.0:1.0:0.0	.	328	O60282	KIF5C_HUMAN	N	328;233;231;45;96	ENSP00000393379:K328N;ENSP00000410115:K233N;ENSP00000393270:K45N;ENSP00000380560:K96N	ENSP00000334176:K231N	K	+	3	2	KIF5C	149526746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.963000	0.56773	2.516000	0.84829	0.632000	0.83419	AAG		0.358	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		29	50	1	0	9.65021e-13	1	1.22324e-12	29	50				
CAMKK1	84254	broad.mit.edu	37	17	3773125	3773125	+	Silent	SNP	G	G	A	rs147240137		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:3773125G>A	ENST00000348335.2	-	13	1330	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	CAMKK1_ENST00000381771.2_Silent_p.P432P|CAMKK1_ENST00000381769.2_Silent_p.P421P|CAMKK1_ENST00000158166.5_Silent_p.P432P	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	394	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TTCTCGTCTCGGGATTCTTGT	0.572																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(1294-1296)ccC>ccT		calcium/calmodulin-dependent protein kinase kinase 1, alpha							166.0	147.0	153.0					17																	3773125		2203	4300	6503	SO:0001819	synonymous_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3773125G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1182C>T	17.37:g.3773125G>A						CAMKK1_ENST00000348335.2_Silent_p.P394P|CAMKK1_ENST00000158166.5_Silent_p.P432P|CAMKK1_ENST00000381769.2_Silent_p.P421P	p.P432P			Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	14	1443	-			394					Q9BQH3	Silent	SNP	ENST00000348335.2	37	c.1296C>T	CCDS11038.1																																																																																				0.572	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		21	76	0	0	0	1	0	21	76				
MED12	9968	broad.mit.edu	37	X	70344099	70344099	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70344099A>C	ENST00000374080.3	+	13	1867	c.1835A>C	c.(1834-1836)aAc>aCc	p.N612T	MED12_ENST00000374102.1_Missense_Mutation_p.N612T|MED12_ENST00000333646.6_Missense_Mutation_p.N612T			Q93074	MED12_HUMAN	mediator complex subunit 12	612					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCTCCCACAACATGTATACT	0.537			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(1834-1836)aAc>aCc		mediator complex subunit 12							95.0	85.0	88.0					X																	70344099		1957	4134	6091	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70344099A>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1835A>C	X.37:g.70344099A>C	ENSP00000363193:p.Asn612Thr					MED12_ENST00000374080.3_Missense_Mutation_p.N612T|MED12_ENST00000374102.1_Missense_Mutation_p.N612T	p.N612T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			13	2034	+	Renal(35;0.156)		612					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1835A>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	24.4	4.525598	0.85600	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	4.78	4.78	0.61160	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	M	0.71581	2.175	0.80722	D	1	P;D;D;D	0.69078	0.93;0.997;0.97;0.987	P;D;P;P	0.65573	0.647;0.936;0.888;0.855	T	0.62229	-0.6898	10	0.87932	D	0	-17.0591	13.532	0.61627	1.0:0.0:0.0:0.0	.	612;459;612;612	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	T	612;612;612;612;580	ENSP00000333125:N612T;ENSP00000363215:N612T;ENSP00000363193:N612T;ENSP00000414203:N580T	ENSP00000333125:N612T	N	+	2	0	MED12	70260824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.500000	0.90498	1.767000	0.52121	0.345000	0.21793	AAC		0.537	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		22	33	0	0	0	1	0	22	33				
CCDC89	220388	broad.mit.edu	37	11	85396557	85396557	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85396557G>A	ENST00000316398.3	-	1	763	c.617C>T	c.(616-618)gCg>gTg	p.A206V	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	206						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTCTCGCGCGCCTGTGCCTG	0.617																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(616-618)gCg>gTg		coiled-coil domain containing 89							107.0	103.0	104.0					11																	85396557		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396557G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.617C>T	11.37:g.85396557G>A	ENSP00000320649:p.Ala206Val						p.A206V	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	763	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	206						Missense_Mutation	SNP	ENST00000316398.3	37	c.617C>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982620	0.53827	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.8	4.87	0.63330	.	0.683760	0.14524	N	0.314267	T	0.48484	0.1502	M	0.74881	2.28	0.26920	N	0.966706	D	0.57899	0.981	P	0.46758	0.526	T	0.48958	-0.8988	8	.	.	.	-5.6639	9.3945	0.38394	0.0:0.2405:0.5741:0.1854	.	206	Q8N998	CCD89_HUMAN	V	206	.	.	A	-	2	0	CCDC89	85074205	0.998000	0.40836	1.000000	0.80357	0.589000	0.36550	2.323000	0.43823	1.406000	0.46857	0.655000	0.94253	GCG		0.617	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		42	117	0	0	0	1	0	42	117				
IRF6	3664	broad.mit.edu	37	1	209974599	209974599	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209974599T>G	ENST00000367021.3	-	3	332	c.160A>C	c.(160-162)Aat>Cat	p.N54H	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	54					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AAAATGGTATTTTCCTCTTCT	0.428										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(160-162)Aat>Cat		interferon regulatory factor 6							84.0	90.0	88.0					1																	209974599		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209974599T>G	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.160A>C	1.37:g.209974599T>G	ENSP00000355988:p.Asn54His	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Intron	p.N54H	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	332	-			54					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.160A>C	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804770	0.70682	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97772	-4.53;-4.53	6.17	6.17	0.99709	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.085501	0.85682	D	0.000000	D	0.98160	0.9392	L	0.59912	1.85	0.80722	D	1	D	0.63880	0.993	D	0.67382	0.951	D	0.98419	1.0576	9	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	54	O14896	IRF6_HUMAN	H	54	ENSP00000355988:N54H;ENSP00000403855:N54H	.	N	-	1	0	IRF6	208041222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.674000	0.68117	2.371000	0.80710	0.533000	0.62120	AAT		0.428	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		38	67	0	0	0	1	0	38	67				
SPIN1	10927	broad.mit.edu	37	9	91090060	91090060	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:91090060A>C	ENST00000375859.3	+	6	935	c.657A>C	c.(655-657)gaA>gaC	p.E219D	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.E219D	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	219	Tudor-like domain 3.				chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AACAAGTGGAATATGCCAAAG	0.393																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(655-657)gaA>gaC		spindlin 1							76.0	81.0	79.0					9																	91090060		2180	4295	6475	SO:0001583	missense	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91090060A>C	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.657A>C	9.37:g.91090060A>C	ENSP00000365019:p.Glu219Asp					SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.E219D	p.E219D	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN			6	935	+			219					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	37	c.657A>C	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049993	0.75846	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.51325	0.71;0.71	5.54	4.41	0.53225	.	0.051356	0.85682	N	0.000000	T	0.58864	0.2152	L	0.43152	1.355	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.60944	-0.7162	10	0.87932	D	0	-14.6122	11.3392	0.49523	0.9298:0.0:0.0702:0.0	.	219	Q9Y657	SPIN1_HUMAN	D	219	ENSP00000365019:E219D;ENSP00000441864:E219D	ENSP00000365019:E219D	E	+	3	2	SPIN1	90279880	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.925000	0.56484	1.129000	0.42072	0.533000	0.62120	GAA		0.393	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		17	45	0	0	0	1	0	17	45				
PLXNA4	91584	broad.mit.edu	37	7	131912214	131912214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131912214C>A	ENST00000359827.3	-	7	2840	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E626D			Q9HCM2	PLXA4_HUMAN	plexin A4	626					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCACCATTCTCTGTGATGA	0.572																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1876-1878)gaG>gaT		plexin A4							58.0	62.0	61.0					7																	131912214		2094	4231	6325	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131912214C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1878G>T	7.37:g.131912214C>A	ENSP00000352882:p.Glu626Asp					PLXNA4_ENST00000321063.4_Missense_Mutation_p.E626D	p.E626D			Q9HCM2	PLXA4_HUMAN			7	2840	-			626					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1878G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	5.244	0.230534	0.09969	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00966	5.49;5.49	5.73	3.91	0.45181	.	0.047543	0.85682	D	0.000000	T	0.00384	0.0012	N	0.00413	-1.525	0.43334	D	0.995378	B	0.02656	0.0	B	0.04013	0.001	T	0.56498	-0.7969	10	0.14252	T	0.57	.	9.05	0.36369	0.0:0.782:0.0:0.218	.	626	Q9HCM2	PLXA4_HUMAN	D	626	ENSP00000323194:E626D;ENSP00000352882:E626D	ENSP00000323194:E626D	E	-	3	2	PLXNA4	131562754	1.000000	0.71417	0.912000	0.35992	0.195000	0.23768	1.169000	0.31871	0.767000	0.33267	0.655000	0.94253	GAG		0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	22	1	0	0.000157383	1	0.000169016	8	22				
ZNF619	285267	broad.mit.edu	37	3	40528772	40528772	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40528772G>T	ENST00000314686.5	+	6	1128	c.723G>T	c.(721-723)gaG>gaT	p.E241D	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.E257D|ZNF619_ENST00000429348.2_Missense_Mutation_p.E257D|ZNF619_ENST00000456778.1_Missense_Mutation_p.E213D|ZNF619_ENST00000521353.1_Missense_Mutation_p.E297D|ZNF619_ENST00000522736.1_Missense_Mutation_p.E248D|ZNF619_ENST00000447116.2_Missense_Mutation_p.E297D			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACACTGGAGAGAAACCATACT	0.443																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(889-891)gaG>gaT		zinc finger protein 619							62.0	64.0	64.0					3																	40528772		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40528772G>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.723G>T	3.37:g.40528772G>T	ENSP00000322529:p.Glu241Asp					ZNF619_ENST00000314686.5_Missense_Mutation_p.E241D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.E257D|ZNF619_ENST00000522736.1_Missense_Mutation_p.E248D|ZNF619_ENST00000456778.1_Missense_Mutation_p.E213D|ZNF619_ENST00000432264.2_Missense_Mutation_p.E257D|ZNF619_ENST00000521353.1_Missense_Mutation_p.E297D	p.E297D	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1198	+			297					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.891G>T		.	.	.	.	.	.	.	.	.	.	G	14.70	2.612478	0.46631	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71	2.64	0.765	0.18470	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34803	0.0910	L	0.37750	1.13	0.24211	N	0.995471	B;D;D;P;D;D	0.61080	0.02;0.989;0.989;0.927;0.989;0.989	B;D;D;P;D;P	0.74023	0.035;0.982;0.982;0.76;0.982;0.894	T	0.13656	-1.0501	9	0.87932	D	0	.	6.3061	0.21139	0.2729:0.0:0.7271:0.0	.	213;257;297;199;248;241	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	D	241;297;257;213;248;297;257	ENSP00000322529:E241D;ENSP00000411132:E297D;ENSP00000398024:E257D;ENSP00000397232:E213D;ENSP00000428004:E248D;ENSP00000430705:E297D;ENSP00000388710:E257D	ENSP00000322529:E241D	E	+	3	2	ZNF619	40503776	0.963000	0.33076	0.991000	0.47740	0.677000	0.39632	0.017000	0.13399	0.048000	0.15891	-0.253000	0.11424	GAG		0.443	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		20	43	1	0	3.99206e-14	1	5.17458e-14	20	43				
AK9	221264	broad.mit.edu	37	6	109816601	109816601	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109816601A>G	ENST00000424296.2	-	39	5434	c.5358T>C	c.(5356-5358)ctT>ctC	p.L1786L	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1786					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTAATGGGGGAAGCTTGTGTG	0.383																																						ENST00000424296.2																			0											c.(5356-5358)ctT>ctC		adenylate kinase 9							126.0	130.0	128.0					6																	109816601		2203	4300	6503	SO:0001819	synonymous_variant	221264							g.chr6:109816601A>G	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5358T>C	6.37:g.109816601A>G						RP5-919F19.5_ENST00000423747.1_RNA	p.L1786L	NM_001145128.2	NP_001138600.2					39	5434	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.5358T>C	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.993|0.993	-0.693232|-0.693232	0.03303|0.03303	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000490722	.|.	.|.	.|.	5.5|5.5	-1.05|-1.05	0.10036|0.10036	.|.	.|.	.|.	.|.	.|.	T|T	0.36138|0.36138	0.0956|0.0956	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30822|0.30822	-0.9965|-0.9965	4|4	.|.	.|.	.|.	.|.	7.0531|7.0531	0.25083|0.25083	0.3968:0.4075:0.1957:0.0|0.3968:0.4075:0.1957:0.0	.|.	.|.	.|.	.|.	S|P	624|187	.|.	.|.	F|S	-|-	2|1	0|0	AKD1|AKD1	109923294|109923294	0.927000|0.927000	0.31430|0.31430	0.992000|0.992000	0.48379|0.48379	0.119000|0.119000	0.20118|0.20118	0.050000|0.050000	0.14120|0.14120	-0.175000|-0.175000	0.10725|0.10725	-0.331000|-0.331000	0.08364|0.08364	TTC|TCC		0.383	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		15	31	0	0	0	1	0	15	31				
CLDN2	9075	broad.mit.edu	37	X	106146382	106146382	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106146382C>A	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000276173.4_Nonsense_Mutation_p.E46*|RIPPLY1_ENST00000411805.1_Nonsense_Mutation_p.E46*	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCATTTACTTCTTGTCCAGAG	0.527																																						ENST00000276173.4																			0				lung(1)|urinary_tract(1)	2						c.(136-138)Gaa>Taa		ripply transcriptional repressor 1							42.0	44.0	43.0					X																	106146382		1996	4164	6160	SO:0001627	intron_variant	92129				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		g.chrX:106146382C>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+2648C>A	X.37:g.106146382C>A						CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Nonsense_Mutation_p.E46*	p.E46*	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN			1	165	-			46					B2R6B9	Nonsense_Mutation	SNP	ENST00000541806.1	37	c.136G>T	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304156	0.60305	.	.	ENSG00000147223	ENST00000276173;ENST00000411805	.	.	.	4.44	3.58	0.41010	.	0.283330	0.27227	N	0.020334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.2143	0.37337	0.0:0.7646:0.2354:0.0	.	.	.	.	X	46	.	ENSP00000276173:E46X	E	-	1	0	RIPPLY1	106033038	0.999000	0.42202	0.960000	0.40013	0.261000	0.26267	2.005000	0.40864	1.201000	0.43203	0.600000	0.82982	GAA		0.527	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			8	16	1	0	1.12685e-05	1	1.24509e-05	8	16				
ACSL4	2182	broad.mit.edu	37	X	108926385	108926385	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:108926385T>G	ENST00000469796.2	-	3	727	c.331A>C	c.(331-333)Aat>Cat	p.N111H	ACSL4_ENST00000340800.2_Missense_Mutation_p.N111H|ACSL4_ENST00000348502.6_Missense_Mutation_p.N70H			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	111					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	ACTTTTCCATTTGGCTGCATT	0.348																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(331-333)Aat>Cat		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						80.0	72.0	75.0					X																	108926385		2203	4299	6502	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108926385T>G	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.331A>C	X.37:g.108926385T>G	ENSP00000419171:p.Asn111His					ACSL4_ENST00000348502.6_Missense_Mutation_p.N70H|ACSL4_ENST00000469796.2_Missense_Mutation_p.N111H	p.N111H	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			4	835	-			111					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.331A>C	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950491	0.73787	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800;ENST00000505855;ENST00000502391;ENST00000508092;ENST00000504980	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.72	5.72	0.89469	.	0.083079	0.85682	D	0.000000	T	0.63745	0.2537	M	0.77616	2.38	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.69064	-0.5244	10	0.87932	D	0	-27.3968	15.0119	0.71555	0.0:0.0:0.0:1.0	.	111	O60488	ACSL4_HUMAN	H	70;111;111;70;111;111;111	ENSP00000262835:N70H;ENSP00000419171:N111H;ENSP00000339787:N111H;ENSP00000424808:N70H	ENSP00000339787:N111H	N	-	1	0	ACSL4	108813041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.975000	0.70475	1.928000	0.55862	0.425000	0.28330	AAT		0.348	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		10	53	0	0	0	1	0	10	53				
SCN9A	6335	broad.mit.edu	37	2	167056352	167056352	+	Missense_Mutation	SNP	A	A	C	rs201421963		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167056352A>C	ENST00000409435.1	-	26	4796	c.4797T>G	c.(4795-4797)atT>atG	p.I1599M	SCN9A_ENST00000375387.4_Missense_Mutation_p.I1600M|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1588M|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1600M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1599					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATACGTTTCAATCAAATCAG	0.408																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4798-4800)atT>atG		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						101.0	109.0	106.0					2																	167056352		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056352A>C	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4797T>G	2.37:g.167056352A>C	ENSP00000386330:p.Ile1599Met					SCN9A_ENST00000409672.1_Missense_Mutation_p.I1588M|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1599M|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1600M	p.I1600M			Q15858	SCN9A_HUMAN			27	5140	-			1599					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4800T>G	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	8.418	0.845670	0.16963	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.74	4.58	0.56647	.	0.000000	0.35525	N	0.003155	D	0.98245	0.9419	M	0.69185	2.1	0.43879	D	0.996492	D	0.76494	0.999	D	0.77557	0.99	D	0.97948	1.0330	10	0.87932	D	0	.	6.2601	0.20895	0.3455:0.0:0.121:0.5334	.	1588	E7EUN6	.	M	1588;1600;1600;1599	ENSP00000386306:I1588M;ENSP00000364536:I1600M;ENSP00000304748:I1600M;ENSP00000386330:I1599M	ENSP00000304748:I1600M	I	-	3	3	SCN9A	166764598	1.000000	0.71417	0.998000	0.56505	0.045000	0.14185	1.197000	0.32211	0.982000	0.38575	-0.347000	0.07816	ATT		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		11	100	0	0	0	1	0	11	100				
XIRP2	129446	broad.mit.edu	37	2	168102751	168102751	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168102751G>A	ENST00000409195.1	+	9	4938	c.4849G>A	c.(4849-4851)Gac>Aac	p.D1617N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1395N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1617N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1442					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCCAAAAGGGACTGTACTGA	0.333																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(4849-4851)Gac>Aac		xin actin-binding repeat containing 2							44.0	41.0	42.0					2																	168102751		1819	4079	5898	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102751G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4849G>A	2.37:g.168102751G>A	ENSP00000386840:p.Asp1617Asn					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1617N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1395N	p.D1617N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4938	+			1442					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4849G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	4.170	0.030152	0.08101	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02579	4.24;4.24;4.25	5.45	3.63	0.41609	.	0.159012	0.56097	D	0.000030	T	0.02888	0.0086	L	0.33485	1.01	0.32608	N	0.524935	B;B;B	0.33448	0.289;0.412;0.202	B;B;B	0.36766	0.075;0.232;0.111	T	0.32079	-0.9920	10	0.30078	T	0.28	-11.1187	7.9706	0.30126	0.3128:0.0:0.6872:0.0	.	1442;1442;1395	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	1617;1617;1395	ENSP00000386840:D1617N;ENSP00000295237:D1617N;ENSP00000387255:D1395N	ENSP00000295237:D1617N	D	+	1	0	XIRP2	167810997	0.988000	0.35896	0.976000	0.42696	0.164000	0.22412	3.239000	0.51360	1.304000	0.44892	0.557000	0.71058	GAC		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	23	0	0	0	1	0	13	23				
ITGA8	8516	broad.mit.edu	37	10	15720728	15720728	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:15720728A>C	ENST00000378076.3	-	5	976	c.623T>G	c.(622-624)tTt>tGt	p.F208C		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	208					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CACCTTATAAAAATCCAGACT	0.403																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(622-624)tTt>tGt		integrin, alpha 8							88.0	91.0	90.0					10																	15720728		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15720728A>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.623T>G	10.37:g.15720728A>C	ENSP00000367316:p.Phe208Cys						p.F208C	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			5	976	-			208					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.623T>G	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500386	0.85176	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.26518	1.73	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69101	-0.5234	10	0.87932	D	0	.	15.8341	0.78787	1.0:0.0:0.0:0.0	.	208;208	F5H818;P53708	.;ITA8_HUMAN	C	208	ENSP00000367316:F208C	ENSP00000367316:F208C	F	-	2	0	ITGA8	15760734	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.977000	0.88081	2.144000	0.66660	0.533000	0.62120	TTT		0.403	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		27	36	0	0	0	1	0	27	36				
ZNF407	55628	broad.mit.edu	37	18	72344194	72344194	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:72344194G>A	ENST00000299687.5	+	1	1219	c.1219G>A	c.(1219-1221)Ggt>Agt	p.G407S	ZNF407_ENST00000309902.6_Missense_Mutation_p.G407S|ZNF407_ENST00000582337.1_Missense_Mutation_p.G407S|ZNF407_ENST00000577538.1_Missense_Mutation_p.G407S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCAGCACACGGTAACAGTGT	0.468																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(1219-1221)Ggt>Agt		zinc finger protein 407							55.0	57.0	56.0					18																	72344194		1868	4115	5983	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344194G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1219G>A	18.37:g.72344194G>A	ENSP00000299687:p.Gly407Ser					ZNF407_ENST00000582337.1_Missense_Mutation_p.G407S|ZNF407_ENST00000577538.1_Missense_Mutation_p.G407S|ZNF407_ENST00000309902.6_Missense_Mutation_p.G407S	p.G407S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1219	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	407					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.1219G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	2.450	-0.326574	0.05350	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.08807	3.05;3.5	5.17	-8.63	0.00878	.	.	.	.	.	T	0.02727	0.0082	N	0.01505	-0.83	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.0	T	0.53606	-0.8415	9	0.17369	T	0.5	.	16.58	0.84712	0.881:0.0:0.119:0.0	.	407;407;407	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	S	407	ENSP00000299687:G407S;ENSP00000310359:G407S	ENSP00000299687:G407S	G	+	1	0	ZNF407	70473182	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.172000	0.09868	0.025000	0.15241	-0.172000	0.13284	GGT		0.468	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		16	39	0	0	0	1	0	16	39				
SMG8	55181	broad.mit.edu	37	17	57288858	57288858	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57288858T>C	ENST00000543872.2	+	2	1710	c.1446T>C	c.(1444-1446)atT>atC	p.I482I	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.I482I|SMG8_ENST00000578922.1_Silent_p.I482I|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	482					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TAAGCAGTATTAAAGTCTTGG	0.423																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1444-1446)atT>atC		SMG8 nonsense mediated mRNA decay factor							59.0	61.0	60.0					17																	57288858		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288858T>C	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1446T>C	17.37:g.57288858T>C						SMG8_ENST00000300917.5_Silent_p.I482I|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Silent_p.I482I|CTD-2510F5.6_ENST00000577660.1_Intron	p.I482I			Q8ND04	SMG8_HUMAN			2	1710	+			482					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.1446T>C	CCDS11615.1																																																																																				0.423	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		27	48	0	0	0	1	0	27	48				
PTPRM	5797	broad.mit.edu	37	18	8143718	8143718	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:8143718C>T	ENST00000332175.8	+	14	3278	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	PTPRM_ENST00000444013.1_Silent_p.I534I|PTPRM_ENST00000580170.1_Silent_p.I747I|PTPRM_ENST00000400053.4_Silent_p.I685I|PTPRM_ENST00000400060.4_Silent_p.I747I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	747					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGGAGTCATCGCGGGCATCT	0.438																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2239-2241)atC>atT		protein tyrosine phosphatase, receptor type, M							177.0	170.0	173.0					18																	8143718		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8143718C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2241C>T	18.37:g.8143718C>T						PTPRM_ENST00000400053.4_Silent_p.I685I|PTPRM_ENST00000400060.4_Silent_p.I747I|PTPRM_ENST00000444013.1_Silent_p.I534I|PTPRM_ENST00000580170.1_Silent_p.I747I	p.I747I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			14	3278	+		Colorectal(10;0.234)	747					A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.2241C>T	CCDS11840.1																																																																																				0.438	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			46	76	0	0	0	1	0	46	76				
MYEOV2	150678	broad.mit.edu	37	2	241066116	241066116	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241066116C>T	ENST00000307266.3	-	5	622	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTGACCTCTCGCCTGCTTCT	0.478																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(622-624)cGa>cAa		myeloma overexpressed 2							241.0	201.0	214.0					2																	241066116		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241066116C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.623G>A	2.37:g.241066116C>T	ENSP00000304147:p.Arg208Gln						p.R208Q	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	622	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Missense_Mutation	SNP	ENST00000307266.3	37	c.623G>A	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579392	0.28180	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.2	-0.902	0.10537	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	1	P	0.36065	0.535	B	0.18263	0.021	T	0.10706	-1.0618	7	0.87932	D	0	.	4.0152	0.09641	0.0:0.5213:0.0:0.4787	.	208	Q8WXC6-1	.	Q	208	.	ENSP00000304147:R208Q	R	-	2	0	MYEOV2	240714789	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.487000	0.02310	-0.351000	0.08249	-0.324000	0.08512	CGA		0.478	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		27	87	0	0	0	1	0	27	87				
RP11-337C18.8	0	broad.mit.edu	37	1	146650172	146650172	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:146650172C>T	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.9_ENST00000606152.1_RNA																							TAGGTTTTTTCGATGATTCAT	0.438																																						ENST00000607149.1																			0																																																			0							g.chr1:146650172C>T																													1.37:g.146650172C>T														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.438	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			25	51	0	0	0	1	0	25	51				
ZNF583	147949	broad.mit.edu	37	19	56935644	56935644	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56935644G>A	ENST00000333201.9	+	5	1827	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	ZNF583_ENST00000291598.7_Silent_p.E539E|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTCATCATGAGAGAATTCATa	0.418																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1615-1617)gaG>gaA		zinc finger protein 583							95.0	91.0	92.0					19																	56935644		2203	4300	6503	SO:0001819	synonymous_variant	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935644G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1617G>A	19.37:g.56935644G>A						ZNF583_ENST00000291598.7_Silent_p.E539E|ZNF583_ENST00000585612.1_Intron	p.E539E	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1827	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	539					O14850|Q2NKK3	Silent	SNP	ENST00000333201.9	37	c.1617G>A	CCDS12943.1																																																																																				0.418	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		13	42	0	0	0	1	0	13	42				
TRAF6	7189	broad.mit.edu	37	11	36511925	36511925	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:36511925G>A	ENST00000526995.1	-	7	1278	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Silent_p.I344I	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	344	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTGTGCTTCGATTTCAGCAA	0.408																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(1030-1032)atC>atT		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							148.0	137.0	141.0					11																	36511925		2202	4298	6500	SO:0001819	synonymous_variant	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511925G>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1032C>T	11.37:g.36511925G>A						TRAF6_ENST00000348124.5_Silent_p.I344I	p.I344I	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			7	1278	-	all_lung(20;0.211)	all_hematologic(20;0.107)	344			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Silent	SNP	ENST00000526995.1	37	c.1032C>T	CCDS7901.1																																																																																				0.408	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		31	86	0	0	0	1	0	31	86				
UGT2B15	7366	broad.mit.edu	37	4	69536087	69536087	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69536087T>G	ENST00000338206.5	-	1	259	c.250A>C	c.(250-252)Aat>Cat	p.N84H		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	84					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TCCAAATAATTTTTAGTTAAA	0.308																																						ENST00000338206.5																			0											c.(250-252)Aat>Cat		UDP glucuronosyltransferase 2 family, polypeptide B15							78.0	92.0	87.0					4																	69536087		2199	4297	6496	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69536087T>G	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.250A>C	4.37:g.69536087T>G	ENSP00000341045:p.Asn84His						p.N84H	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	259	-			84					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.250A>C	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	t	9.224	1.034213	0.19590	.	.	ENSG00000196620	ENST00000338206	T	0.59906	0.23	2.58	-3.75	0.04372	.	0.353403	0.24054	U	0.041971	T	0.26810	0.0656	N	0.10874	0.06	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.04664	-1.0935	10	0.59425	D	0.04	.	1.1774	0.01838	0.1709:0.4318:0.1691:0.2282	.	84	P54855	UDB15_HUMAN	H	84	ENSP00000341045:N84H	ENSP00000341045:N84H	N	-	1	0	UGT2B15	69218682	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.211000	0.09332	-1.192000	0.02691	0.363000	0.22086	AAT		0.308	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		52	74	0	0	0	1	0	52	74				
OR11H6	122748	broad.mit.edu	37	14	20692796	20692796	+	Missense_Mutation	SNP	C	C	A	rs541140880		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20692796C>A	ENST00000315519.2	+	1	1006	c.928C>A	c.(928-930)Ctt>Att	p.L310I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTATAGTCTTCGAAACAA	0.418																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(928-930)Ctt>Att		olfactory receptor, family 11, subfamily H, member 6							94.0	98.0	97.0					14																	20692796		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692796C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.928C>A	14.37:g.20692796C>A	ENSP00000319071:p.Leu310Ile						p.L310I	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	1006	+	all_cancers(95;0.00108)		310					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.928C>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686961	0.29962	.	.	ENSG00000176219	ENST00000315519	T	0.44881	0.91	5.1	5.1	0.69264	.	0.000000	0.46145	D	0.000305	T	0.66886	0.2835	M	0.91406	3.205	0.28520	N	0.913109	D	0.76494	0.999	D	0.65987	0.94	T	0.67960	-0.5535	10	0.87932	D	0	.	9.4393	0.38659	0.0:0.9056:0.0:0.0944	.	310	Q8NGC7	O11H6_HUMAN	I	310	ENSP00000319071:L310I	ENSP00000319071:L310I	L	+	1	0	OR11H6	19762636	0.100000	0.21855	0.950000	0.38849	0.135000	0.20990	0.528000	0.23002	2.648000	0.89879	0.471000	0.43371	CTT		0.418	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			40	75	1	0	5.73237e-09	1	6.82905e-09	40	75				
LHCGR	3973	broad.mit.edu	37	2	48915866	48915866	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48915866A>G	ENST00000294954.7	-	11	1091	c.1070T>C	c.(1069-1071)aTg>aCg	p.M357T	LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.M295T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.M330T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	357					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCATAGCCCATAATATCTTC	0.428																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1069-1071)aTg>aCg		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						130.0	131.0	131.0					2																	48915866		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915866A>G		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1070T>C	2.37:g.48915866A>G	ENSP00000294954:p.Met357Thr					LHCGR_ENST00000344775.3_Missense_Mutation_p.M295T|LHCGR_ENST00000405626.1_Missense_Mutation_p.M330T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_Intron	p.M357T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1091	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	357					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1070T>C	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135720	0.37728	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.85556	-2.0;-2.0;-2.0	5.91	5.91	0.95273	.	0.210307	0.53938	D	0.000057	D	0.85405	0.5689	M	0.85945	2.785	0.52501	D	0.999958	P	0.39094	0.659	B	0.32211	0.142	D	0.86112	0.1563	9	.	.	.	.	15.5325	0.75974	1.0:0.0:0.0:0.0	.	357	P22888	LSHR_HUMAN	T	295;357;330	ENSP00000344301:M295T;ENSP00000294954:M357T;ENSP00000386033:M330T	.	M	-	2	0	LHCGR	48769370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.239000	0.72356	2.252000	0.74401	0.533000	0.62120	ATG		0.428	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		39	51	0	0	0	1	0	39	51				
PCDHGA9	56107	broad.mit.edu	37	5	140784372	140784372	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140784372C>T	ENST00000573521.1	+	1	1853	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCTTCTCGGTGGGGCTG	0.602																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1852-1854)tCg>tTg									48.0	55.0	53.0					5																	140784372		2188	4300	6488	SO:0001583	missense	0							g.chr5:140784372C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1853C>T	5.37:g.140784372C>T	ENSP00000460274:p.Ser618Leu					PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.S618L	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1853	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.1853C>T	CCDS58981.1																																																																																				0.602	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		38	49	0	0	0	1	0	38	49				
PLEK	5341	broad.mit.edu	37	2	68607896	68607896	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68607896C>A	ENST00000234313.7	+	3	419	c.240C>A	c.(238-240)ttC>ttA	p.F80L		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	80	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGACCACTTCTTCCAGGCAG	0.463																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(238-240)ttC>ttA		pleckstrin							131.0	131.0	131.0					2																	68607896		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607896C>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.240C>A	2.37:g.68607896C>A	ENSP00000234313:p.Phe80Leu						p.F80L	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	419	+		Ovarian(717;0.0129)	80			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.240C>A	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129288	0.56721	.	.	ENSG00000115956	ENST00000234313	T	0.11063	2.81	5.79	4.74	0.60224	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.184142	0.64402	D	0.000012	T	0.10551	0.0258	L	0.28458	0.855	0.54753	D	0.999984	B;B	0.32188	0.315;0.359	B;B	0.39185	0.281;0.293	T	0.08166	-1.0735	10	0.48119	T	0.1	.	9.8489	0.41043	0.0:0.8076:0.0:0.1924	.	98;80	Q59GZ2;P08567	.;PLEK_HUMAN	L	80	ENSP00000234313:F80L	ENSP00000234313:F80L	F	+	3	2	PLEK	68461400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.252000	0.43196	2.746000	0.94184	0.650000	0.86243	TTC		0.463	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		62	102	1	0	6.2918e-36	1	9.04828e-36	62	102				
HERC3	8916	broad.mit.edu	37	4	89577136	89577136	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:89577136C>A	ENST00000402738.1	+	9	1258	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	HERC3_ENST00000407637.1_Missense_Mutation_p.P340H|HERC3_ENST00000543130.1_5'Flank|HERC3_ENST00000264345.3_Missense_Mutation_p.P340H	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	340					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGCCCATCTCCTGTCAAGGGT	0.463																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(1018-1020)cCt>cAt		HECT and RLD domain containing E3 ubiquitin protein ligase 3							132.0	122.0	125.0					4																	89577136		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89577136C>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1019C>A	4.37:g.89577136C>A	ENSP00000385684:p.Pro340His					HERC3_ENST00000264345.3_Missense_Mutation_p.P340H|HERC3_ENST00000407637.1_Missense_Mutation_p.P340H	p.P340H	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	9	1258	+			340					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.1019C>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057490	0.55325	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	D;D;D	0.85013	-1.93;-1.93;-1.93	4.77	4.77	0.60923	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.185115	0.48286	D	0.000200	D	0.89501	0.6733	M	0.71206	2.165	0.80722	D	1	P;D	0.89917	0.88;1.0	P;D	0.65323	0.838;0.934	D	0.87282	0.2293	10	0.28530	T	0.3	.	11.462	0.50217	0.0:0.9185:0.0:0.0815	.	340;340	Q15034;Q8IXX3	HERC3_HUMAN;.	H	340	ENSP00000385684:P340H;ENSP00000384005:P340H;ENSP00000264345:P340H	ENSP00000264345:P340H	P	+	2	0	HERC3	89796159	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.347000	0.59373	2.489000	0.83994	0.655000	0.94253	CCT		0.463	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		23	33	1	0	9.95505e-16	1	1.31587e-15	23	33				
IL1RAPL1	11141	broad.mit.edu	37	X	29414549	29414549	+	Silent	SNP	C	C	A	rs372833369		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29414549C>A	ENST00000378993.1	+	4	1210	c.537C>A	c.(535-537)atC>atA	p.I179I	IL1RAPL1_ENST00000302196.4_Silent_p.I179I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	179	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AACCTGAAATCCTTTGGTACA	0.378																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(535-537)atC>atA		interleukin 1 receptor accessory protein-like 1		C		2,3831		0,2,1629,571	102.0	99.0	100.0		537	4.4	1.0	X		100	0,6727		0,0,2428,1871	no	coding-synonymous	IL1RAPL1	NM_014271.3		0,2,4057,2442	AA,AC,CC,C		0.0,0.0522,0.0189		179/697	29414549	2,10558	2202	4299	6501	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29414549C>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.537C>A	X.37:g.29414549C>A						IL1RAPL1_ENST00000302196.4_Silent_p.I179I	p.I179I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			4	1210	+			179			Ig-like C2-type 2.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.537C>A	CCDS14218.1																																																																																				0.378	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		28	79	1	0	1.88708e-17	1	2.5355e-17	28	79				
NRK	203447	broad.mit.edu	37	X	105187975	105187975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105187975C>A	ENST00000243300.9	+	24	4304	c.4001C>A	c.(4000-4002)tCa>tAa	p.S1334*	NRK_ENST00000428173.2_Nonsense_Mutation_p.S1335*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1334	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S1335*(1)|p.S1334*(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCTTTGAAATCATCAATTCAC	0.323										HNSCC(51;0.14)																												ENST00000428173.2																			2	Substitution - Nonsense(2)	p.S1335*(1)|p.S1334*(1)	endometrium(2)	breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(4003-4005)tCa>tAa		Nik related kinase							126.0	103.0	110.0					X																	105187975		1860	4092	5952	SO:0001587	stop_gained	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105187975C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4001C>A	X.37:g.105187975C>A	ENSP00000434830:p.Ser1334*	HNSCC(51;0.14)				NRK_ENST00000243300.9_Nonsense_Mutation_p.S1334*	p.S1335*			Q7Z2Y5	NRK_HUMAN			24	4307	+			1334			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37	c.4004C>A		.	.	.	.	.	.	.	.	.	.	C	45	11.477006	0.99566	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	5.44	4.49	0.54785	.	0.000000	0.39687	N	0.001290	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7054	0.23248	0.4357:0.434:0.1302:0.0	.	.	.	.	X	1334;1335	.	ENSP00000434830:S1334X	S	+	2	0	NRK	105074631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.517000	0.45529	2.262000	0.75019	0.594000	0.82650	TCA		0.323	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		3	6	1	0	0.00909568	1	0.00935351	3	6				
TENM1	10178	broad.mit.edu	37	X	124097442	124097442	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:124097442C>A	ENST00000371130.3	-	1	224	c.161G>T	c.(160-162)aGg>aTg	p.R54M	TENM1_ENST00000422452.2_Missense_Mutation_p.R54M	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	54	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										GTAATTCATCCTCAGCTCCTG	0.373																																						ENST00000422452.2																			0											c.(160-162)aGg>aTg		teneurin transmembrane protein 1							267.0	250.0	255.0					X																	124097442		2203	4300	6503	SO:0001583	missense	10178							g.chrX:124097442C>A	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.161G>T	X.37:g.124097442C>A	ENSP00000360171:p.Arg54Met					TENM1_ENST00000371130.3_Missense_Mutation_p.R54M	p.R54M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					1	224	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.161G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084915	0.76642	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.46451	0.87;0.87	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.63768	0.2539	L	0.57536	1.79	0.53688	D	0.999975	D;D;D	0.76494	0.999;0.999;0.991	D;D;P	0.85130	0.997;0.997;0.897	T	0.65504	-0.6152	10	0.87932	D	0	.	18.9267	0.92548	0.0:1.0:0.0:0.0	.	54;54;54	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	M	54	ENSP00000360171:R54M;ENSP00000403954:R54M	ENSP00000360171:R54M	R	-	2	0	ODZ1	123925123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.627000	0.67784	2.417000	0.82017	0.600000	0.82982	AGG		0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		72	101	1	0	3.61678e-42	1	5.2321e-42	72	101				
CHRDL2	25884	broad.mit.edu	37	11	74421962	74421962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:74421962C>A	ENST00000376332.3	-	4	860	c.364G>T	c.(364-366)Gag>Tag	p.E122*	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Nonsense_Mutation_p.E122*	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	122	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTGAAGATCTCTCCGTGTTGG	0.612																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(364-366)Gag>Tag		chordin-like 2							175.0	162.0	167.0					11																	74421962		2200	4293	6493	SO:0001587	stop_gained	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74421962C>A	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.364G>T	11.37:g.74421962C>A	ENSP00000365510:p.Glu122*					CHRDL2_ENST00000263671.5_Nonsense_Mutation_p.E122*|CHRDL2_ENST00000534159.1_5'UTR	p.E122*	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			4	860	-	Hepatocellular(1;0.098)		122			VWFC 2.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Nonsense_Mutation	SNP	ENST00000376332.3	37	c.364G>T		.	.	.	.	.	.	.	.	.	.	C	40	8.316260	0.98757	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	.	.	.	5.05	5.05	0.67936	.	0.118551	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.4626	13.7872	0.63117	0.0:1.0:0.0:0.0	.	.	.	.	X	122;122;6;6;122	.	ENSP00000263671:E122X	E	-	1	0	CHRDL2	74099610	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.219000	0.78000	2.636000	0.89361	0.655000	0.94253	GAG		0.612	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			10	16	1	0	0.00621372	1	0.0064192	10	16				
TCP10L	140290	broad.mit.edu	37	21	33949164	33949164	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33949164G>T	ENST00000300258.3	-	5	681	c.568C>A	c.(568-570)Ctt>Att	p.L190I	TCP10L_ENST00000472557.1_Missense_Mutation_p.L104I|LINC00846_ENST00000334165.4_lincRNA	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	190					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						CTCCTGGAAAGATTTTTATCT	0.448																																						ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(568-570)Ctt>Att		t-complex 10-like							122.0	112.0	115.0					21																	33949164		2203	4300	6503	SO:0001583	missense	140290							g.chr21:33949164G>T	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.568C>A	21.37:g.33949164G>T	ENSP00000300258:p.Leu190Ile					TCP10L_ENST00000491828.1_5'UTR	p.L190I	NM_144659.5	NP_653260.1					5	681	-								Q53EW0|Q96LN5	Missense_Mutation	SNP	ENST00000300258.3	37	c.568C>A	CCDS13616.1	.	.	.	.	.	.	.	.	.	.	G	2.662	-0.279543	0.05642	.	.	ENSG00000242220	ENST00000300258	T	0.23754	1.89	0.361	0.361	0.16107	.	.	.	.	.	T	0.17365	0.0417	L	0.48642	1.525	0.09310	N	1	P	0.40476	0.718	B	0.32465	0.146	T	0.12734	-1.0536	8	0.44086	T	0.13	.	.	.	.	.	190	Q8TDR4	TCP1L_HUMAN	I	190	ENSP00000300258:L190I	ENSP00000300258:L190I	L	-	1	0	TCP10L	32871035	0.025000	0.19082	0.003000	0.11579	0.003000	0.03518	-0.011000	0.12721	0.406000	0.25560	0.411000	0.27672	CTT		0.448	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		31	52	1	0	2.70662e-09	1	3.24368e-09	31	52				
SLC44A1	23446	broad.mit.edu	37	9	108126842	108126842	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:108126842C>A	ENST00000374720.3	+	10	1341	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	SLC44A1_ENST00000343170.7_Missense_Mutation_p.P157H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.P365H|SLC44A1_ENST00000374723.1_Missense_Mutation_p.P365H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	365					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTAGGCAGTCCTGTTCAGAAT	0.443																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1093-1095)cCt>cAt		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						148.0	151.0	150.0					9																	108126842		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108126842C>A	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1094C>A	9.37:g.108126842C>A	ENSP00000363852:p.Pro365His					SLC44A1_ENST00000343170.7_Missense_Mutation_p.P157H|SLC44A1_ENST00000374723.1_Missense_Mutation_p.P365H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.P365H	p.P365H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			10	1341	+			365					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.1094C>A	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747716	0.89663	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.7	5.7	0.88788	.	0.148183	0.64402	D	0.000013	T	0.48132	0.1483	M	0.77486	2.375	0.48762	D	0.999702	P;P;D	0.53151	0.766;0.766;0.958	P;P;P	0.53549	0.729;0.729;0.641	T	0.49224	-0.8962	10	0.62326	D	0.03	-12.7852	19.8383	0.96670	0.0:1.0:0.0:0.0	.	365;365;365	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	H	365;365;365;157	ENSP00000363855:P365H;ENSP00000363852:P365H;ENSP00000363856:P365H;ENSP00000341856:P157H	ENSP00000341856:P157H	P	+	2	0	SLC44A1	107166663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.758000	0.85224	2.683000	0.91414	0.650000	0.86243	CCT		0.443	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		45	79	1	0	2.20914e-33	1	3.16969e-33	45	79				
NR3C2	4306	broad.mit.edu	37	4	149181258	149181258	+	Missense_Mutation	SNP	C	C	T	rs552665133		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:149181258C>T	ENST00000358102.3	-	3	2131	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	NR3C2_ENST00000511528.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000355292.3_Missense_Mutation_p.R590Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.R590Q|NR3C2_ENST00000512865.1_Missense_Mutation_p.R590Q	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	590	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R590Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AGAAACACTTCGTAAAGTAGA	0.413																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			1	Substitution - Missense(1)	p.R590Q(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1768-1770)cGa>cAa		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						89.0	86.0	87.0					4																	149181258		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149181258C>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1769G>A	4.37:g.149181258C>T	ENSP00000350815:p.Arg590Gln					NR3C2_ENST00000358102.3_Missense_Mutation_p.R590Q|NR3C2_ENST00000511528.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000512865.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.R590Q|NR3C2_ENST00000342437.4_Missense_Mutation_p.R590Q	p.R590Q			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	3	2131	-	all_hematologic(180;0.151)		590			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1769G>A	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719847	0.68844	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.89939	-2.58;-2.59;-2.58;-2.19;-2.19;-2.59	5.98	5.98	0.97165	.	0.065195	0.64402	D	0.000005	D	0.89955	0.6865	L	0.27053	0.805	0.43242	D	0.995153	D;D	0.89917	1.0;0.998	P;P	0.59546	0.859;0.831	D	0.87978	0.2741	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	590;590	B0ZBF5;B0ZBF6	.;.	Q	590	ENSP00000341390:R590Q;ENSP00000347441:R590Q;ENSP00000350815:R590Q;ENSP00000423510:R590Q;ENSP00000343907:R590Q;ENSP00000421481:R590Q	.	R	-	2	0	NR3C2	149400708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.046000	0.64226	2.838000	0.97847	0.591000	0.81541	CGA		0.413	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			12	31	0	0	0	1	0	12	31				
SIRT2	22933	broad.mit.edu	37	19	39384111	39384111	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39384111G>A	ENST00000249396.7	-	4	470	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	SIRT2_ENST00000358931.5_Missense_Mutation_p.R57C|SIRT2_ENST00000392081.2_Missense_Mutation_p.R20C	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	57					autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCAGCAGACGCTCCTTCTGG	0.617																																						ENST00000249396.7																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(169-171)Cgt>Tgt		sirtuin 2							48.0	41.0	44.0					19																	39384111		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39384111G>A	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.169C>T	19.37:g.39384111G>A	ENSP00000249396:p.Arg57Cys					SIRT2_ENST00000358931.5_Missense_Mutation_p.R57C|SIRT2_ENST00000392081.2_Missense_Mutation_p.R20C	p.R57C	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		4	470	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		57					A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.169C>T	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796686	0.70567	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552;ENST00000381766;ENST00000437828;ENST00000447739	T;T;T;T;T;T	0.47869	1.41;1.42;0.83;0.83;0.86;0.83	4.26	3.08	0.35506	.	0.150970	0.40144	N	0.001176	T	0.43722	0.1260	L	0.31926	0.97	0.45634	D	0.998561	D;D;P;D	0.89917	0.999;0.998;0.657;1.0	P;P;B;P	0.53988	0.729;0.605;0.013;0.739	T	0.41910	-0.9482	10	0.87932	D	0	-7.4151	6.0612	0.19839	0.0:0.1546:0.5212:0.3242	.	57;20;57;37	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	C	57;20;57;42;20;20;20;20;20	ENSP00000249396:R57C;ENSP00000375931:R20C;ENSP00000351809:R57C;ENSP00000404309:R20C;ENSP00000385146:R20C;ENSP00000401203:R20C	ENSP00000249396:R57C	R	-	1	0	SIRT2	44075951	0.992000	0.36948	1.000000	0.80357	0.943000	0.58893	2.298000	0.43602	2.027000	0.59764	0.462000	0.41574	CGT		0.617	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			13	16	0	0	0	1	0	13	16				
AFTPH	54812	broad.mit.edu	37	2	64779068	64779068	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64779068G>T	ENST00000422803.1	+	2	774	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	AFTPH_ENST00000409933.1_Missense_Mutation_p.D154Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.D154Y|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238856.4_Missense_Mutation_p.D154Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	154					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CTCTCCAGGAGATTTTAGAAC	0.388																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(460-462)Gat>Tat		aftiphilin							47.0	48.0	47.0					2																	64779068		2201	4300	6501	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779068G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.460G>T	2.37:g.64779068G>T	ENSP00000397726:p.Asp154Tyr					AFTPH_ENST00000409933.1_Missense_Mutation_p.D154Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.D154Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.D154Y	p.D154Y			Q6ULP2	AFTIN_HUMAN			2	774	+			154					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.460G>T		.	.	.	.	.	.	.	.	.	.	G	13.00	2.106193	0.37145	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.78	4.89	0.63831	.	0.366876	0.29205	N	0.012828	T	0.43942	0.1270	L	0.55481	1.735	0.36990	D	0.894735	D;D;D;D	0.63880	0.986;0.986;0.986;0.993	P;P;P;D	0.63113	0.814;0.814;0.814;0.911	T	0.49293	-0.8955	10	0.72032	D	0.01	-16.3078	8.0881	0.30784	0.126:0.0:0.7349:0.1391	.	154;154;154;154	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	Y	154	ENSP00000238856:D154Y;ENSP00000397726:D154Y;ENSP00000238855:D154Y;ENSP00000387071:D154Y	ENSP00000238855:D154Y	D	+	1	0	AFTPH	64632572	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.066000	0.50002	2.894000	0.99253	0.591000	0.81541	GAT		0.388	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		16	38	1	0	3.45872e-05	1	3.78815e-05	16	38				
DUSP16	80824	broad.mit.edu	37	12	12633209	12633209	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12633209C>T	ENST00000228862.2	-	6	1394	c.763G>A	c.(763-765)Gct>Act	p.A255T	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_Intron	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	255	Tyrosine-protein phosphatase.				dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TAGGCGATAGCGATGGTGGCG	0.458																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(763-765)Gct>Act		dual specificity phosphatase 16							221.0	204.0	210.0					12																	12633209		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12633209C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.763G>A	12.37:g.12633209C>T	ENSP00000228862:p.Ala255Thr					DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_Intron	p.A255T	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	6	1394	-		Prostate(47;0.0687)	255			Tyrosine-protein phosphatase.		Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.763G>A	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927483	0.92389	.	.	ENSG00000111266	ENST00000228862	T	0.61510	0.1	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.52266	1.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70846	-0.4761	10	0.45353	T	0.12	.	19.7516	0.96271	0.0:1.0:0.0:0.0	.	255;255	Q9BY84;Q96N49	DUS16_HUMAN;.	T	255	ENSP00000228862:A255T	ENSP00000228862:A255T	A	-	1	0	DUSP16	12524476	1.000000	0.71417	0.991000	0.47740	0.820000	0.46376	5.954000	0.70298	2.656000	0.90262	0.655000	0.94253	GCT		0.458	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		45	85	0	0	0	1	0	45	85				
ATAD2	29028	broad.mit.edu	37	8	124358483	124358483	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124358483C>T	ENST00000287394.5	-	18	2482	c.2375G>A	c.(2374-2376)cGa>cAa	p.R792Q	ATAD2_ENST00000521903.1_Missense_Mutation_p.R110Q|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	792					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATTCTTGGTCGAAAAGACAT	0.343																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(2374-2376)cGa>cAa		ATPase family, AAA domain containing 2							74.0	72.0	73.0					8																	124358483		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124358483C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2375G>A	8.37:g.124358483C>T	ENSP00000287394:p.Arg792Gln					ATAD2_ENST00000521903.1_Missense_Mutation_p.R110Q	p.R792Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		18	2482	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		792					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2375G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	36	5.899731	0.97081	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;D	0.82711	-1.64;-1.64	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	M	0.71036	2.16	0.52501	D	0.999959	D	0.89917	1.0	D	0.73380	0.98	D	0.90653	0.4584	10	0.66056	D	0.02	-11.763	20.547	0.99278	0.0:1.0:0.0:0.0	.	792	Q6PL18	ATAD2_HUMAN	Q	792;110	ENSP00000287394:R792Q;ENSP00000429213:R110Q	ENSP00000287394:R792Q	R	-	2	0	ATAD2	124427664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.850000	0.98022	0.650000	0.86243	CGA		0.343	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		16	43	0	0	0	1	0	16	43				
VPS13D	55187	broad.mit.edu	37	1	12414216	12414216	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12414216C>T	ENST00000358136.3	+	47	9747	c.9617C>T	c.(9616-9618)aCg>aTg	p.T3206M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3181M	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTAATGGGACGCTGAAACCT	0.438																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(9616-9618)aCg>aTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							93.0	93.0	93.0					1																	12414216		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12414216C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9617C>T	1.37:g.12414216C>T	ENSP00000350854:p.Thr3206Met					VPS13D_ENST00000356315.4_Missense_Mutation_p.T3181M	p.T3206M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	47	9747	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3205						Missense_Mutation	SNP	ENST00000358136.3	37	c.9617C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.713762|4.713762	0.89112|0.89112	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.56103	.|0.48;0.48	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.098992	.|0.64402	.|D	.|0.000002	T|T	0.66187|0.66187	0.2764|0.2764	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|P;P	.|0.61132	.|0.884;0.769	T|T	0.63550|0.63550	-0.6612|-0.6612	5|10	.|0.52906	.|T	.|0.07	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3181;3205	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	C|M	2028|3181;3206	.|ENSP00000348666:T3181M;ENSP00000350854:T3206M	.|ENSP00000348666:T3181M	R|T	+|+	1|2	0|0	VPS13D|VPS13D	12336803|12336803	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.918000|0.918000	0.54935|0.54935	5.723000|5.723000	0.68492|0.68492	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		32	40	0	0	0	1	0	32	40				
TTN	7273	broad.mit.edu	37	2	179399554	179399554	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179399554A>C	ENST00000591111.1	-	308	97089	c.96865T>G	c.(96865-96867)Tta>Gta	p.L32289V	TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L33930V|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L31362V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L24865V|TTN_ENST00000359218.5_Missense_Mutation_p.L24990V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25057V|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTGTGTAAAAACTGAAGT	0.343																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(101788-101790)Tta>Gta		titin							70.0	71.0	71.0					2																	179399554		1853	4099	5952	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399554A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96865T>G	2.37:g.179399554A>C	ENSP00000465570:p.Leu32289Val					TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25057V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24990V|TTN_ENST00000342992.6_Missense_Mutation_p.L31362V|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L24865V|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L32289V|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589391.1_RNA	p.L33930V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	102012	-			32289					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.101788T>G		.	.	.	.	.	.	.	.	.	.	A	11.98	1.802029	0.31869	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	6.02	3.71	0.42584	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.63721	0.2535	M	0.66378	2.025	0.46279	D	0.998967	P;P;P;D	0.56035	0.949;0.949;0.949;0.974	P;P;P;P	0.54174	0.609;0.609;0.609;0.744	T	0.67102	-0.5755	9	0.87932	D	0	.	8.1164	0.30946	0.7671:0.0:0.2329:0.0	.	24865;24990;25057;32289	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	31362;24865;25057;24990;24862	ENSP00000343764:L31362V;ENSP00000434586:L24865V;ENSP00000340554:L25057V;ENSP00000352154:L24990V	ENSP00000340554:L25057V	L	-	1	2	TTN	179107800	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.310000	0.33551	2.304000	0.77564	0.528000	0.53228	TTA		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	40	0	0	0	1	0	16	40				
COL6A2	1292	broad.mit.edu	37	21	47536586	47536586	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47536586C>T	ENST00000300527.4	+	9	1053	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	COL6A2_ENST00000409416.1_Missense_Mutation_p.R317C|COL6A2_ENST00000357838.4_Missense_Mutation_p.R317C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R317C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R317C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	317	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGCCGACGGTCGCAAGGTAGG	0.622																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(949-951)Cgc>Tgc		collagen, type VI, alpha 2							40.0	44.0	43.0					21																	47536586		2202	4299	6501	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47536586C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.949C>T	21.37:g.47536586C>T	ENSP00000300527:p.Arg317Cys					COL6A2_ENST00000409416.1_Missense_Mutation_p.R317C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R317C|COL6A2_ENST00000357838.4_Missense_Mutation_p.R317C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R317C	p.R317C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	9	1053	+	Breast(49;0.245)		317			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.949C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033616	0.35893	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4	4.96	-0.937	0.10415	.	0.386348	0.26126	N	0.026196	D	0.94751	0.8306	L	0.52126	1.63	0.38452	D	0.946986	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.83275	0.996;0.975;0.945	D	0.93976	0.7254	10	0.62326	D	0.03	-22.4738	16.1134	0.81278	0.6195:0.3805:0.0:0.0	.	317;317;317	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	C	317	ENSP00000300527:R317C;ENSP00000350497:R317C;ENSP00000312529:R317C;ENSP00000387115:R317C;ENSP00000380870:R317C	ENSP00000300527:R317C	R	+	1	0	COL6A2	46361014	0.006000	0.16342	0.225000	0.23894	0.822000	0.46500	-0.108000	0.10857	0.032000	0.15435	0.655000	0.94253	CGC		0.622	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			15	31	0	0	0	1	0	15	31				
C4BPA	722	broad.mit.edu	37	1	207297270	207297270	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207297270T>G	ENST00000367070.3	+	5	626	c.432T>G	c.(430-432)ttT>ttG	p.F144L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	144	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TATTCAGATTTTTCTTAATTG	0.343																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(430-432)ttT>ttG		complement component 4 binding protein, alpha							61.0	60.0	60.0					1																	207297270		2202	4300	6502	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207297270T>G	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.432T>G	1.37:g.207297270T>G	ENSP00000356037:p.Phe144Leu						p.F144L	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			5	626	+			144			Sushi 2.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.432T>G	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681924	0.47991	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.69561	1.5;-0.41	5.9	0.898	0.19264	Complement control module (2);Sushi/SCR/CCP (3);	0.355450	0.24474	N	0.038209	T	0.65585	0.2705	M	0.77712	2.385	0.09310	N	1	B	0.23058	0.079	B	0.32864	0.154	T	0.62501	-0.6841	10	0.87932	D	0	.	7.263	0.26214	0.0:0.445:0.0:0.555	.	144	P04003	C4BPA_HUMAN	L	144	ENSP00000356037:F144L;ENSP00000403386:F144L	ENSP00000356037:F144L	F	+	3	2	C4BPA	205363893	0.032000	0.19561	0.000000	0.03702	0.008000	0.06430	0.260000	0.18424	0.149000	0.19098	0.528000	0.53228	TTT		0.343	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			8	7	0	0	0	1	0	8	7				
HSPH1	10808	broad.mit.edu	37	13	31714336	31714336	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31714336T>G	ENST00000320027.5	-	14	2309	c.1965A>C	c.(1963-1965)aaA>aaC	p.K655N	HSPH1_ENST00000380406.5_Missense_Mutation_p.K614N|HSPH1_ENST00000380405.4_Missense_Mutation_p.K611N|HSPH1_ENST00000429785.2_Missense_Mutation_p.K474N|HSPH1_ENST00000445273.2_Missense_Mutation_p.K657N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	655					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CACATATAAATTTTTCATATG	0.328																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1963-1965)aaA>aaC		heat shock 105kDa/110kDa protein 1							168.0	147.0	154.0					13																	31714336		2202	4299	6501	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31714336T>G	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1965A>C	13.37:g.31714336T>G	ENSP00000318687:p.Lys655Asn					HSPH1_ENST00000445273.2_Missense_Mutation_p.K657N|HSPH1_ENST00000380405.4_Missense_Mutation_p.K611N|HSPH1_ENST00000380406.5_Missense_Mutation_p.K614N|HSPH1_ENST00000429785.2_Missense_Mutation_p.K474N	p.K655N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	14	2309	-		Lung SC(185;0.0257)	655					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.1965A>C	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274301	0.59649	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.69	-8.18	0.01053	.	0.180089	0.47093	D	0.000251	T	0.11024	0.0269	L	0.28274	0.84	0.40240	D	0.97794	P;B;P;B;B	0.40282	0.711;0.089;0.549;0.096;0.337	P;B;B;B;P	0.47015	0.534;0.056;0.329;0.049;0.479	T	0.06807	-1.0806	10	0.41790	T	0.15	-22.3207	14.785	0.69796	0.0:0.5695:0.0861:0.3444	.	474;614;657;611;655	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	N	655;611;614;657;474	ENSP00000318687:K655N;ENSP00000369768:K611N;ENSP00000369769:K614N;ENSP00000396090:K657N;ENSP00000388778:K474N	ENSP00000318687:K655N	K	-	3	2	HSPH1	30612336	0.058000	0.20735	0.024000	0.17045	0.931000	0.56810	-0.671000	0.05250	-1.410000	0.02035	-0.250000	0.11733	AAA		0.328	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			19	36	0	0	0	1	0	19	36				
DNAJB4	11080	broad.mit.edu	37	1	78479068	78479068	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78479068C>A	ENST00000370763.5	+	2	802	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	182					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGAAGATTTCTCGAAAAAGG	0.403																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(544-546)tCt>tAt		DnaJ (Hsp40) homolog, subfamily B, member 4							95.0	100.0	98.0					1																	78479068		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78479068C>A	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.545C>A	1.37:g.78479068C>A	ENSP00000359799:p.Ser182Tyr					GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	p.S182Y	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN			2	802	+			182					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.545C>A	CCDS684.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600848	0.66332	.	.	ENSG00000162616	ENST00000370763	D	0.84223	-1.82	5.22	5.22	0.72569	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.85197	2.74	0.80722	D	1	D	0.71674	0.998	P	0.61658	0.892	D	0.92761	0.6224	10	0.87932	D	0	.	18.8295	0.92132	0.0:1.0:0.0:0.0	.	182	Q9UDY4	DNJB4_HUMAN	Y	182	ENSP00000359799:S182Y	ENSP00000359799:S182Y	S	+	2	0	DNAJB4	78251656	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.814000	0.86154	2.416000	0.81992	0.650000	0.86243	TCT		0.403	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			27	52	1	0	3.73808e-20	1	5.11168e-20	27	52				
KCNQ5	56479	broad.mit.edu	37	6	73834249	73834249	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:73834249C>A	ENST00000370398.1	+	9	1356				KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L421I|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000403813.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5						protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGTGATTTCTCTCTTGCTACA	0.363																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000370392.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1261-1263)Ctc>Atc		potassium voltage-gated channel, KQT-like subfamily, member 5							182.0	169.0	173.0					6																	73834249		2203	4300	6503	SO:0001627	intron_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73834249C>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1247+14C>A	6.37:g.73834249C>A						KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000370398.1_Intron	p.L421I			Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	9	1345	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	0					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1261C>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731817	0.48939	.	.	ENSG00000185760	ENST00000370392	D	0.99264	-5.65	5.76	0.958	0.19619	.	.	.	.	.	D	0.94791	0.8318	.	.	.	0.80722	D	1	B	0.31383	0.321	B	0.34652	0.187	D	0.90678	0.4603	7	.	.	.	.	3.2232	0.06723	0.2141:0.3584:0.303:0.1245	.	421	Q9NR82-4	.	I	421	ENSP00000359419:L421I	.	L	+	1	0	KCNQ5	73890970	0.975000	0.34042	0.995000	0.50966	0.966000	0.64601	-0.038000	0.12144	-0.041000	0.13558	-0.165000	0.13383	CTC		0.363	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		18	24	1	0	1.56452e-12	1	1.97515e-12	18	24				
CXorf57	55086	broad.mit.edu	37	X	105876450	105876450	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105876450C>T	ENST00000372548.4	+	6	1380	c.1271C>T	c.(1270-1272)tCg>tTg	p.S424L	CXorf57_ENST00000372544.2_Missense_Mutation_p.S424L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	424							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTTCAACATCGCAGCCAGAA	0.318																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1270-1272)tCg>tTg		chromosome X open reading frame 57							61.0	59.0	60.0					X																	105876450		2203	4299	6502	SO:0001583	missense	55086							g.chrX:105876450C>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1271C>T	X.37:g.105876450C>T	ENSP00000361628:p.Ser424Leu					CXorf57_ENST00000372544.2_Missense_Mutation_p.S424L	p.S424L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			6	1380	+			424					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1271C>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237982	0.79800	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.68624	-0.34;-0.28;-0.22	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.66939	2.045	0.48395	D	0.99964	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.82649	-0.0353	10	0.72032	D	0.01	-13.7404	15.5498	0.76141	0.0:1.0:0.0:0.0	.	424;424;424	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	L	424;424;232	ENSP00000361623:S424L;ENSP00000361628:S424L;ENSP00000405866:S232L	ENSP00000361623:S424L	S	+	2	0	CXorf57	105763106	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.781000	0.62389	2.164000	0.68074	0.594000	0.82650	TCG		0.318	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		20	44	0	0	0	1	0	20	44				
UTP20	27340	broad.mit.edu	37	12	101679554	101679554	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101679554A>C	ENST00000261637.4	+	4	395	c.221A>C	c.(220-222)aAa>aCa	p.K74T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	74					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTTATTGACAAATGCCAATCA	0.358																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(220-222)aAa>aCa		UTP20, small subunit (SSU) processome component, homolog (yeast)							89.0	90.0	90.0					12																	101679554		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101679554A>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.221A>C	12.37:g.101679554A>C	ENSP00000261637:p.Lys74Thr						p.K74T	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			4	395	+			74					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.221A>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.897064	0.52121	.	.	ENSG00000120800	ENST00000261637	T	0.42513	0.97	5.56	5.56	0.83823	.	0.176119	0.48286	D	0.000188	T	0.56601	0.1996	L	0.58669	1.825	0.47547	D	0.999458	D	0.71674	0.998	P	0.61800	0.894	T	0.52290	-0.8595	10	0.26408	T	0.33	-23.4668	15.7176	0.77681	1.0:0.0:0.0:0.0	.	74	O75691	UTP20_HUMAN	T	74	ENSP00000261637:K74T	ENSP00000261637:K74T	K	+	2	0	UTP20	100203685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.781000	0.68964	2.104000	0.64026	0.528000	0.53228	AAA		0.358	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		19	46	0	0	0	1	0	19	46				
FSCN3	29999	broad.mit.edu	37	7	127236471	127236471	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127236471C>T	ENST00000265825.5	+	3	1150	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.R177C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	311						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGCAGCTTCGTTCAGCCAA	0.522																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(931-933)Cgt>Tgt		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							243.0	211.0	222.0					7																	127236471		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127236471C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.931C>T	7.37:g.127236471C>T	ENSP00000265825:p.Arg311Cys					FSCN3_ENST00000420086.2_Missense_Mutation_p.R177C	p.R311C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			3	1150	+			311					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.931C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992384	0.74703	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.55760	1.2;0.5	5.55	5.55	0.83447	Fascin domain (1);Actin cross-linking (1);	0.105600	0.43919	D	0.000509	T	0.58963	0.2159	N	0.19112	0.55	0.58432	D	0.999993	D;D	0.89917	0.987;1.0	P;D	0.78314	0.783;0.991	T	0.62525	-0.6836	10	0.66056	D	0.02	-24.0266	15.3668	0.74529	0.0:1.0:0.0:0.0	.	177;311	B4DU68;Q9NQT6	.;FSCN3_HUMAN	C	311;177	ENSP00000265825:R311C;ENSP00000412243:R177C	ENSP00000265825:R311C	R	+	1	0	FSCN3	127023707	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	2.411000	0.44600	2.768000	0.95171	0.655000	0.94253	CGT		0.522	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		49	102	0	0	0	1	0	49	102				
SLC4A5	57835	broad.mit.edu	37	2	74477584	74477584	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74477584G>T	ENST00000377634.4	-	17	1938	c.1539C>A	c.(1537-1539)ttC>ttA	p.F513L	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.F513L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.F513L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.F449L|SLC4A5_ENST00000377632.1_Missense_Mutation_p.F513L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.F513L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.F513L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.F449L					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCATCATAGAAGTCACTTG	0.532											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1537-1539)ttC>ttA		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							185.0	174.0	177.0					2																	74477584		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74477584G>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1539C>A	2.37:g.74477584G>T	ENSP00000366861:p.Phe513Leu		OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1153	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.F513L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.F513L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.F449L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.F513L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.F513L|SLC4A5_ENST00000423644.1_Missense_Mutation_p.F513L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.F449L	p.F513L	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			17	1936	-			513						Missense_Mutation	SNP	ENST00000377634.4	37	c.1539C>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828153	0.90955	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.54	5.54	0.83059	Bicarbonate transporter, C-terminal (1);	0.045667	0.85682	D	0.000000	D	0.86422	0.5929	M	0.79343	2.45	0.54753	D	0.999988	D;P;P;P;P	0.60160	0.987;0.813;0.929;0.813;0.913	P;P;P;P;P	0.58820	0.846;0.528;0.596;0.513;0.497	D	0.87017	0.2126	10	0.59425	D	0.04	.	17.0271	0.86450	0.0:0.0:1.0:0.0	.	513;513;449;513;513	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	L	513;513;513;449;513;449;513;513;513;513	ENSP00000377587:F513L;ENSP00000251768:F513L;ENSP00000352461:F449L;ENSP00000395804:F513L;ENSP00000351513:F449L;ENSP00000350475:F513L;ENSP00000366859:F513L;ENSP00000366861:F513L;ENSP00000405678:F513L	ENSP00000251768:F513L	F	-	3	2	SLC4A5	74331092	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.631000	0.46502	2.884000	0.98904	0.655000	0.94253	TTC		0.532	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			56	146	1	0	3.30226e-22	1	4.58371e-22	56	146				
DIAPH3	81624	broad.mit.edu	37	13	60348377	60348377	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:60348377G>A	ENST00000400324.4	-	27	3485	c.3265C>T	c.(3265-3267)Cgg>Tgg	p.R1089W	DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1089W|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R1043W|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R1089W|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R1019W|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1078W	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1089					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGACTCTGCCGAACATCTGtt	0.323																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3265-3267)Cgg>Tgg		diaphanous-related formin 3							58.0	55.0	56.0					13																	60348377		1801	4070	5871	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60348377G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3265C>T	13.37:g.60348377G>A	ENSP00000383178:p.Arg1089Trp					DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1089W|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1078W|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R1089W|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R1019W|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R1043W	p.R1089W	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	27	3485	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	1089					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.3265C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956652	0.53293	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214	D;D;D;D;D;D	0.82255	-1.58;-1.58;-1.59;-1.57;-1.56;-1.55	5.59	5.59	0.84812	.	0.364730	0.25759	N	0.028489	T	0.80336	0.4604	L	0.29908	0.895	0.42587	D	0.993238	D;D	0.63046	0.992;0.978	P;B	0.49047	0.599;0.328	T	0.83001	-0.0177	10	0.72032	D	0.01	.	14.7534	0.69546	0.0712:0.0:0.9288:0.0	.	826;1089	Q9NSV4-1;Q9NSV4	.;DIAP3_HUMAN	W	1089;1089;1078;1043;1019;1078;1019;1043;1089;826	ENSP00000383178:R1089W;ENSP00000383184:R1089W;ENSP00000367141:R1078W;ENSP00000383173:R1019W;ENSP00000383174:R1043W;ENSP00000267215:R1089W	ENSP00000267214:R826W	R	-	1	2	DIAPH3	59246378	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.461000	0.66699	2.646000	0.89796	0.655000	0.94253	CGG		0.323	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		19	28	0	0	0	1	0	19	28				
OSBPL6	114880	broad.mit.edu	37	2	179248854	179248854	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179248854C>A	ENST00000190611.4	+	18	2340	c.1964C>A	c.(1963-1965)aCt>aAt	p.T655N	OSBPL6_ENST00000359685.3_Missense_Mutation_p.T619N|OSBPL6_ENST00000409045.3_Missense_Mutation_p.T624N|OSBPL6_ENST00000392505.2_Missense_Mutation_p.T680N|OSBPL6_ENST00000409631.1_Missense_Mutation_p.T619N|OSBPL6_ENST00000315022.2_Missense_Mutation_p.T659N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	655					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTTGGGGAGACTTATGAATGC	0.453																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1963-1965)aCt>aAt		oxysterol binding protein-like 6							238.0	237.0	237.0					2																	179248854		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179248854C>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1964C>A	2.37:g.179248854C>A	ENSP00000190611:p.Thr655Asn					OSBPL6_ENST00000409045.3_Missense_Mutation_p.T624N|OSBPL6_ENST00000359685.3_Missense_Mutation_p.T619N|OSBPL6_ENST00000409631.1_Missense_Mutation_p.T619N|OSBPL6_ENST00000392505.2_Missense_Mutation_p.T680N|OSBPL6_ENST00000315022.2_Missense_Mutation_p.T659N	p.T655N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		18	2340	+			655					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1964C>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597232	0.87055	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.91	5.91	0.95273	.	0.044013	0.85682	D	0.000000	T	0.79753	0.4500	H	0.98133	4.155	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.99;1.0;0.971;0.995	P;D;D;P;P	0.87578	0.84;0.969;0.998;0.713;0.89	D	0.86589	0.1859	10	0.87932	D	0	-18.8122	20.2985	0.98592	0.0:1.0:0.0:0.0	.	624;659;619;680;655	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	N	680;619;624;655;619;659	ENSP00000376293:T680N;ENSP00000352713:T619N;ENSP00000387248:T624N;ENSP00000190611:T655N;ENSP00000386885:T619N;ENSP00000318723:T659N	ENSP00000190611:T655N	T	+	2	0	OSBPL6	178957100	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	6.056000	0.71111	2.793000	0.96121	0.655000	0.94253	ACT		0.453	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		98	215	1	0	1.35424e-50	1	1.96665e-50	98	215				
PRRC2C	23215	broad.mit.edu	37	1	171511148	171511148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:171511148G>T	ENST00000338920.4	+	16	4774	c.4537G>T	c.(4537-4539)Gaa>Taa	p.E1513*	PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.E1515*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1513*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1515*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1513					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGAGAGGGATGAAAAAAAAAA	0.388																																						ENST00000367742.3																			0											c.(4543-4545)Gaa>Taa		proline-rich coiled-coil 2C							61.0	65.0	64.0					1																	171511148		2203	4300	6503	SO:0001587	stop_gained	23215						protein C-terminus binding	g.chr1:171511148G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4537G>T	1.37:g.171511148G>T	ENSP00000343629:p.Glu1513*					PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E1513*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1515*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1513*	p.E1515*			Q9Y520	PRC2C_HUMAN			16	4785	+			1513					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	c.4543G>T	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.158461|13.158461	0.99724|0.99724	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.47455|.	D|.	0.000221|.	.|T	.|0.75317	.|0.3833	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73190	.|-0.4061	.|3	0.39692|.	T|.	0.17|.	.|.	19.7924|19.7924	0.96464|0.96464	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1515;1514;1513;1515;1513;1270|60	.|.	ENSP00000343629:E1513X|.	E|M	+|+	1|3	0|0	PRRC2C|PRRC2C	169777772|169777772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.466000|9.466000	0.97665|0.97665	2.660000|2.660000	0.90430|0.90430	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.388	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		19	44	1	0	3.32936e-07	1	3.80431e-07	19	44				
ZP2	7783	broad.mit.edu	37	16	21218215	21218215	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21218215C>A	ENST00000574002.1	-	6	909	c.427G>T	c.(427-429)Gta>Tta	p.V143L	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.V143L|ZP2_ENST00000219593.4_Missense_Mutation_p.V143L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	143					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTCTTCTACTTGCATAGCT	0.498																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(427-429)Gta>Tta		zona pellucida glycoprotein 2 (sperm receptor)							198.0	178.0	185.0					16																	21218215		2199	4300	6499	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21218215C>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.427G>T	16.37:g.21218215C>A	ENSP00000460971:p.Val143Leu					ZP2_ENST00000219593.4_Missense_Mutation_p.V143L|ZP2_ENST00000574091.1_Missense_Mutation_p.V143L	p.V143L			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	909	-			143					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.427G>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825921	0.32237	.	.	ENSG00000103310	ENST00000219593	T	0.76316	-1.01	4.09	0.786	0.18590	.	0.780131	0.11418	N	0.566061	T	0.59636	0.2208	L	0.29908	0.895	0.09310	N	1	B;B;B	0.30146	0.27;0.105;0.105	B;B;B	0.20955	0.032;0.019;0.019	T	0.52094	-0.8621	10	0.72032	D	0.01	-0.5294	2.7089	0.05169	0.1873:0.5251:0.1819:0.1057	.	143;143;143	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	L	143	ENSP00000219593:V143L	ENSP00000219593:V143L	V	-	1	0	ZP2	21125716	0.000000	0.05858	0.021000	0.16686	0.903000	0.53119	0.245000	0.18142	0.094000	0.17404	0.591000	0.81541	GTA		0.498	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			36	82	1	0	2.09667e-21	1	2.89385e-21	36	82				
IFIT5	24138	broad.mit.edu	37	10	91178049	91178049	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91178049C>A	ENST00000371795.4	+	2	1306	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	IFIT5_ENST00000416601.1_Missense_Mutation_p.L317I	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	365					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						CCGGAAAGCTCTTCGTCTGGA	0.458																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(1093-1095)Ctt>Att		interferon-induced protein with tetratricopeptide repeats 5							77.0	70.0	72.0					10																	91178049		2203	4300	6503	SO:0001583	missense	24138						binding	g.chr10:91178049C>A	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.1093C>A	10.37:g.91178049C>A	ENSP00000360860:p.Leu365Ile					IFIT5_ENST00000416601.1_Missense_Mutation_p.L317I	p.L365I	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1306	+			365					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.1093C>A	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252997	0.39797	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.71103	-0.54;-0.54	5.66	4.74	0.60224	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.197545	0.45126	D	0.000388	T	0.76026	0.3930	L	0.58669	1.825	0.33770	D	0.622915	D;D	0.71674	0.998;0.998	D;D	0.71870	0.975;0.975	T	0.74881	-0.3513	10	0.13470	T	0.59	-12.0395	9.0759	0.36522	0.1437:0.7812:0.0:0.075	.	365;317	Q13325;B4DDV1	IFIT5_HUMAN;.	I	365;317	ENSP00000360860:L365I;ENSP00000414042:L317I	ENSP00000360860:L365I	L	+	1	0	IFIT5	91168029	0.012000	0.17670	0.996000	0.52242	0.125000	0.20455	0.250000	0.18235	2.665000	0.90641	0.655000	0.94253	CTT		0.458	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		7	54	1	0	0.00198382	1	0.00207034	7	54				
SIDT1	54847	broad.mit.edu	37	3	113327383	113327383	+	Splice_Site	SNP	G	G	A	rs193150297		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113327383G>A	ENST00000264852.4	+	17	2446	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N	SIDT1_ENST00000393830.3_Splice_Site_p.D574N|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	574					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTTCCAATTCGGTAATTAGAA	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20947	0.0		0.0	False		,,,				2504	0.0					ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.e17+1		SID1 transmembrane family, member 1							164.0	157.0	160.0					3																	113327383		2203	4300	6503	SO:0001630	splice_region_variant	54847					integral to membrane		g.chr3:113327383G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1720+1G>A	3.37:g.113327383G>A						SIDT1_ENST00000393830.3_Splice_Site_p.D574_splice|SIDT1_ENST00000463226.1_3'UTR	p.D574_splice	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			17	2446	+			574					Q17RR4	Splice_Site	SNP	ENST00000264852.4	37	c.1720_splice	CCDS2974.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.2	4.507187	0.85282	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.51817	0.69;0.69	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	T	0.76111	0.3942	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.80741	-0.1247	10	0.66056	D	0.02	-19.2108	19.4278	0.94751	0.0:0.0:1.0:0.0	.	574;574	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	N	574	ENSP00000264852:D574N;ENSP00000377416:D574N	ENSP00000264852:D574N	D	+	1	0	SIDT1	114810073	1.000000	0.71417	0.980000	0.43619	0.208000	0.24298	9.789000	0.99068	2.595000	0.87683	0.557000	0.71058	GAC		0.423	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	Missense_Mutation	29	50	0	0	0	1	0	29	50				
PATL1	219988	broad.mit.edu	37	11	59421459	59421459	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59421459C>A	ENST00000300146.9	-	9	1202	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	373	Involved in RNA-binding.|Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TACTTACCTTCTATTCTGTTG	0.388																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(1117-1119)aGa>aTa		protein associated with topoisomerase II homolog 1 (yeast)							156.0	153.0	154.0					11																	59421459		1972	4146	6118	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59421459C>A	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1118G>T	11.37:g.59421459C>A	ENSP00000300146:p.Arg373Ile						p.R373I	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			9	1202	-			373			Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.1118G>T	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356968	0.82243	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.51325	0.71	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	L	0.46157	1.445	0.58432	D	0.999994	B;B	0.29909	0.05;0.261	B;B	0.26517	0.028;0.07	T	0.24154	-1.0168	10	0.38643	T	0.18	.	14.4007	0.67044	0.1478:0.8522:0.0:0.0	.	343;373	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	I	373;343	ENSP00000300146:R373I	ENSP00000300146:R373I	R	-	2	0	PATL1	59178035	0.852000	0.29690	0.992000	0.48379	0.945000	0.59286	5.236000	0.65354	2.716000	0.92895	0.655000	0.94253	AGA		0.388	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		32	45	1	0	9.65021e-13	1	1.22324e-12	32	45				
IL2RA	3559	broad.mit.edu	37	10	6063552	6063552	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:6063552C>T	ENST00000379959.3	-	4	645	c.472G>A	c.(472-474)Gct>Act	p.A158T	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Missense_Mutation_p.A158T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	158	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGTGTAGAGCCCTGTATCCC	0.527																																						ENST00000379959.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(472-474)Gct>Act		interleukin 2 receptor, alpha	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						187.0	166.0	173.0					10																	6063552		2203	4300	6503	SO:0001583	missense	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6063552C>T	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.472G>A	10.37:g.6063552C>T	ENSP00000369293:p.Ala158Thr					IL2RA_ENST00000256876.6_Missense_Mutation_p.A158T|IL2RA_ENST00000379954.1_Intron	p.A158T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN			4	645	-			158			Sushi 2.		Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	c.472G>A	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010068	0.35415	.	.	ENSG00000134460	ENST00000379959;ENST00000256876	T;T	0.63580	-0.05;-0.05	4.32	1.26	0.21427	Complement control module (2);Sushi/SCR/CCP (3);	1.008340	0.07968	N	0.983556	T	0.74997	0.3790	M	0.66939	2.045	0.09310	N	1	D	0.63046	0.992	D	0.63283	0.913	T	0.62718	-0.6795	10	0.54805	T	0.06	-37.704	12.0944	0.53747	0.0:0.4814:0.5186:0.0	.	158	P01589	IL2RA_HUMAN	T	158	ENSP00000369293:A158T;ENSP00000256876:A158T	ENSP00000256876:A158T	A	-	1	0	IL2RA	6103558	0.019000	0.18553	0.386000	0.26170	0.034000	0.12701	0.221000	0.17680	0.156000	0.19299	0.650000	0.86243	GCT		0.527	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		56	88	0	0	0	1	0	56	88				
FSCN3	29999	broad.mit.edu	37	7	127239488	127239488	+	Nonsense_Mutation	SNP	C	C	T	rs192546949		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127239488C>T	ENST00000265825.5	+	5	1393	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R258*	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	392						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R392R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCTTGTATTGCGAGGTCGTTA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19583	0.0		0.001	False		,,,				2504	0.0					ENST00000265825.5																			1	Substitution - coding silent(1)	p.R392R(1)	lung(1)	endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1174-1176)Cga>Tga		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							147.0	127.0	134.0					7																	127239488		2203	4300	6503	SO:0001587	stop_gained	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127239488C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1174C>T	7.37:g.127239488C>T	ENSP00000265825:p.Arg392*					FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R258*	p.R392*	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			5	1393	+			392					A4D0Z2|A6NLL7|B2RA62|B4DU68	Nonsense_Mutation	SNP	ENST00000265825.5	37	c.1174C>T	CCDS34746.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	37	6.589529	0.97688	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	.	.	.	5.59	2.62	0.31277	.	0.000000	0.48767	D	0.000176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.6652	11.7882	0.52055	0.4568:0.5432:0.0:0.0	.	.	.	.	X	392;258	.	ENSP00000265825:R392X	R	+	1	2	FSCN3	127026724	0.955000	0.32602	0.202000	0.23494	0.098000	0.18820	0.404000	0.20999	0.668000	0.31126	0.650000	0.86243	CGA		0.517	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		4	87	0	0	0	1	0	4	87				
UPB1	51733	broad.mit.edu	37	22	24911325	24911325	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24911325A>G	ENST00000326010.5	+	6	1122	c.778A>G	c.(778-780)Ata>Gta	p.I260V	UPB1_ENST00000413389.2_Missense_Mutation_p.I192V|AP000355.2_ENST00000432032.1_RNA	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	260	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CTCGGCCACGATAGGAGCACT	0.612																																						ENST00000413389.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(574-576)Ata>Gta		ureidopropionase, beta							78.0	65.0	70.0					22																	24911325		2203	4300	6503	SO:0001583	missense	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24911325A>G	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.778A>G	22.37:g.24911325A>G	ENSP00000324343:p.Ile260Val					UPB1_ENST00000326010.5_Missense_Mutation_p.I260V	p.I192V			Q9UBR1	BUP1_HUMAN			6	2167	+	Colorectal(2;0.0339)		260			CN hydrolase.		A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	c.574A>G	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	a	0.015	-1.553110	0.00918	.	.	ENSG00000100024	ENST00000413389;ENST00000326010	D;D	0.85171	-1.95;-1.95	5.09	2.94	0.34122	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.290655	0.38959	N	0.001518	T	0.60521	0.2275	N	0.02842	-0.48	0.46901	D	0.999244	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56774	-0.7923	10	0.02654	T	1	-17.8231	9.172	0.37089	0.8484:0.0:0.1516:0.0	.	260;192	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	V	192;260	ENSP00000406057:I192V;ENSP00000324343:I260V	ENSP00000324343:I260V	I	+	1	0	UPB1	23241325	1.000000	0.71417	0.776000	0.31678	0.187000	0.23431	2.426000	0.44731	0.967000	0.38186	-0.286000	0.09958	ATA		0.612	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			34	64	0	0	0	1	0	34	64				
COL6A5	256076	broad.mit.edu	37	3	130189741	130189741	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130189741G>T	ENST00000432398.2	+	39	7998	c.7504G>T	c.(7504-7506)Gat>Tat	p.D2502Y	COL6A5_ENST00000265379.6_Missense_Mutation_p.D2502Y	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2502	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCCCACCGAAGATATGAAAGC	0.428																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(7504-7506)Gat>Tat		collagen, type VI, alpha 5							85.0	83.0	84.0					3																	130189741		1892	4126	6018	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130189741G>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7504G>T	3.37:g.130189741G>T	ENSP00000390895:p.Asp2502Tyr					COL6A5_ENST00000432398.2_Missense_Mutation_p.D2502Y	p.D2502Y			A8TX70	CO6A5_HUMAN			39	7998	+			2502			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.7504G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.583|6.583	0.475889|0.475889	0.12521|0.12521	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.90261|.	-2.56;-2.64;-1.09;-0.95|.	5.35|5.35	4.44|4.44	0.53790|0.53790	.|.	0.364292|.	0.23232|.	N|.	0.050460|.	T|T	0.53867|0.53867	0.1823|0.1823	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	P;P|.	0.47034|.	0.823;0.889|.	B;B|.	0.41510|.	0.359;0.359|.	T|T	0.45556|0.45556	-0.9253|-0.9253	10|5	0.72032|.	D|.	0.01|.	.|.	11.6742|11.6742	0.51419|0.51419	0.0:0.1791:0.8209:0.0|0.0:0.1791:0.8209:0.0	.|.	2502;2502|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	Y|I	2502;2502;445;337|753	ENSP00000390895:D2502Y;ENSP00000265379:D2502Y;ENSP00000362250:D445Y;ENSP00000424968:D337Y|.	ENSP00000265379:D2502Y|.	D|R	+|+	1|2	0|0	COL6A5|COL6A5	131672431|131672431	0.957000|0.957000	0.32711|0.32711	0.021000|0.021000	0.16686|0.16686	0.126000|0.126000	0.20510|0.20510	2.020000|2.020000	0.41010|0.41010	1.193000|1.193000	0.43086|0.43086	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		10	17	1	0	1.33987e-11	1	1.67053e-11	10	17				
WBSCR17	64409	broad.mit.edu	37	7	70885996	70885996	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70885996G>T	ENST00000333538.5	+	5	1501	c.867G>T	c.(865-867)gaG>gaT	p.E289D	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	289					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGCGGTACGAGAACTCGGCCC	0.582																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(865-867)gaG>gaT		Williams-Beuren syndrome chromosome region 17							138.0	126.0	130.0					7																	70885996		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70885996G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.867G>T	7.37:g.70885996G>T	ENSP00000329654:p.Glu289Asp					WBSCR17_ENST00000498380.2_3'UTR	p.E289D	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			5	1501	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	289					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.867G>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186075	0.57909	.	.	ENSG00000185274	ENST00000333538	T	0.59083	0.29	5.32	3.53	0.40419	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	N	0.25957	0.775	0.53688	D	0.999975	P	0.50819	0.939	P	0.54759	0.76	T	0.40251	-0.9573	10	0.08837	T	0.75	.	10.8571	0.46804	0.1523:0.0:0.8477:0.0	.	289	Q6IS24	GLTL3_HUMAN	D	289	ENSP00000329654:E289D	ENSP00000329654:E289D	E	+	3	2	WBSCR17	70523932	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.528000	0.60580	0.637000	0.30526	0.557000	0.71058	GAG		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		55	118	1	0	7.34454e-26	1	1.03635e-25	55	118				
CHD5	26038	broad.mit.edu	37	1	6190375	6190375	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6190375C>A	ENST00000262450.3	-	22	3375	c.3276G>T	c.(3274-3276)caG>caT	p.Q1092H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCAGAACTGCTGGGCCCCGG	0.612																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(3274-3276)caG>caT		chromodomain helicase DNA binding protein 5							52.0	53.0	53.0					1																	6190375		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6190375C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3276G>T	1.37:g.6190375C>A	ENSP00000262450:p.Gln1092His					CHD5_ENST00000378021.1_5'UTR	p.Q1092H	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	22	3375	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1092			Helicase C-terminal.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.3276G>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450784	0.63290	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.95724	-3.79	5.11	2.15	0.27550	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000002	D	0.95143	0.8426	L	0.42008	1.315	0.80722	D	1	D	0.61697	0.99	P	0.62298	0.9	D	0.93870	0.7161	10	0.72032	D	0.01	-34.9643	9.4663	0.38816	0.0:0.7645:0.0:0.2355	.	1092	Q8TDI0	CHD5_HUMAN	H	1092;608;500;500	ENSP00000262450:Q1092H	ENSP00000262450:Q1092H	Q	-	3	2	CHD5	6112962	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.546000	0.45778	0.636000	0.30508	-0.258000	0.10820	CAG		0.612	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		22	39	1	0	3.8784e-16	1	5.13982e-16	22	39				
PUS3	83480	broad.mit.edu	37	11	125763958	125763958	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:125763958T>C	ENST00000530811.1	-	3	1213	c.1168A>G	c.(1168-1170)Aat>Gat	p.N390D	HYLS1_ENST00000526028.1_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.N390D|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	390					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GGCTTAACATTTCCCCATTCT	0.458																																						ENST00000227474.3																			0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(1168-1170)Aat>Gat		pseudouridylate synthase 3							159.0	150.0	153.0					11																	125763958		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125763958T>C	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.1168A>G	11.37:g.125763958T>C	ENSP00000432386:p.Asn390Asp					PUS3_ENST00000530811.1_Missense_Mutation_p.N390D|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron	p.N390D	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	4	1265	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	390					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.1168A>G	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.305687	0.23736	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.29397	1.57;1.57	5.41	1.67	0.24075	.	0.530319	0.19114	N	0.122367	T	0.13713	0.0332	N	0.20401	0.57	0.21878	N	0.999497	B	0.02656	0.0	B	0.04013	0.001	T	0.24154	-1.0168	10	0.12430	T	0.62	-4.4384	2.9426	0.05835	0.0:0.3137:0.2412:0.445	.	390	Q9BZE2	PUS3_HUMAN	D	390	ENSP00000227474:N390D;ENSP00000432386:N390D	ENSP00000227474:N390D	N	-	1	0	PUS3	125269168	0.031000	0.19500	0.275000	0.24674	0.829000	0.46940	0.215000	0.17562	0.343000	0.23821	0.482000	0.46254	AAT		0.458	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		25	53	0	0	0	1	0	25	53				
ADPRH	141	broad.mit.edu	37	3	119306657	119306657	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119306657C>T	ENST00000478399.1	+	4	2411	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ADPRH_ENST00000478927.1_Missense_Mutation_p.R336W|ADPRH_ENST00000465513.1_Missense_Mutation_p.R336W|ADPRH_ENST00000357003.3_Missense_Mutation_p.R336W|ADPRH_ENST00000471850.1_3'UTR			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	336					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		ATACAGAAACCGGCTGGAAGA	0.448																																					GBM(133;579 1804 5989 9967 40052)	ENST00000478399.1																			0				breast(1)|kidney(1)|lung(10)|ovary(1)	13						c.(1006-1008)Cgg>Tgg		ADP-ribosylarginine hydrolase							74.0	79.0	77.0					3																	119306657		2203	4300	6503	SO:0001583	missense	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119306657C>T	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.1006C>T	3.37:g.119306657C>T	ENSP00000420200:p.Arg336Trp					ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Missense_Mutation_p.R336W|ADPRH_ENST00000465513.1_Missense_Mutation_p.R336W|ADPRH_ENST00000357003.3_Missense_Mutation_p.R336W	p.R336W			P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	4	2411	+		Lung NSC(201;0.0977)	336					B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	37	c.1006C>T	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781079	0.70222	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	6.05	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.68317	2.08	0.53005	D	0.999965	D	0.89917	1.0	D	0.79108	0.992	T	0.56390	-0.7987	10	0.59425	D	0.04	-15.5832	14.5378	0.67973	0.404:0.596:0.0:0.0	.	336	P54922	ADPRH_HUMAN	W	336	ENSP00000420200:R336W;ENSP00000417528:R336W;ENSP00000349496:R336W;ENSP00000417430:R336W	ENSP00000349496:R336W	R	+	1	2	ADPRH	120789347	0.073000	0.21202	0.573000	0.28510	0.980000	0.70556	0.405000	0.21015	0.816000	0.34421	0.650000	0.86243	CGG		0.448	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		24	64	0	0	0	1	0	24	64				
DISP1	84976	broad.mit.edu	37	1	223177256	223177256	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223177256C>A	ENST00000284476.6	+	8	2681	c.2517C>A	c.(2515-2517)ttC>ttA	p.F839L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	839					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCAAACATTCTTTTACCAGA	0.453																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(2515-2517)ttC>ttA		dispatched homolog 1 (Drosophila)							64.0	69.0	68.0					1																	223177256		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223177256C>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2517C>A	1.37:g.223177256C>A	ENSP00000284476:p.Phe839Leu						p.F839L	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2681	+			839					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.2517C>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856429	0.51376	.	.	ENSG00000154309	ENST00000284476	D	0.94046	-3.34	5.32	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.95765	0.8622	M	0.78344	2.41	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.95056	0.8191	10	0.52906	T	0.07	-38.3601	8.8201	0.35020	0.0:0.7213:0.0:0.2787	.	839	Q96F81	DISP1_HUMAN	L	839	ENSP00000284476:F839L	ENSP00000284476:F839L	F	+	3	2	DISP1	221243879	0.998000	0.40836	0.983000	0.44433	0.968000	0.65278	0.621000	0.24418	1.382000	0.46385	0.655000	0.94253	TTC		0.453	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		15	45	1	0	6.31663e-08	1	7.35827e-08	15	45				
CD2AP	23607	broad.mit.edu	37	6	47547185	47547185	+	Missense_Mutation	SNP	A	A	C	rs377756180		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47547185A>C	ENST00000359314.5	+	9	1424	c.968A>C	c.(967-969)aAt>aCt	p.N323T		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	323	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.N323I(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCCAGACAATTTTGCTGTC	0.348																																						ENST00000359314.5																			1	Substitution - Missense(1)	p.N323I(1)	large_intestine(1)	kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(967-969)aAt>aCt		CD2-associated protein							102.0	106.0	105.0					6																	47547185		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47547185A>C	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.968A>C	6.37:g.47547185A>C	ENSP00000352264:p.Asn323Thr						p.N323T	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		9	1424	+			323			SH3 3.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.968A>C	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103715	0.76983	.	.	ENSG00000198087	ENST00000359314	T	0.36878	1.23	5.47	4.31	0.51392	Src homology-3 domain (4);	0.043402	0.85682	D	0.000000	T	0.51753	0.1693	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58885	-0.7557	10	0.54805	T	0.06	-21.557	11.1065	0.48205	0.9278:0.0:0.0722:0.0	.	323	Q9Y5K6	CD2AP_HUMAN	T	323	ENSP00000352264:N323T	ENSP00000352264:N323T	N	+	2	0	CD2AP	47655144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.897000	0.87356	0.925000	0.37094	0.477000	0.44152	AAT		0.348	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			19	29	0	0	0	1	0	19	29				
FAM135B	51059	broad.mit.edu	37	8	139164903	139164903	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139164903G>T	ENST00000395297.1	-	13	1985	c.1815C>A	c.(1813-1815)atC>atA	p.I605I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	605										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTCTGAAGAGATGGCATTTT	0.453										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1813-1815)atC>atA		family with sequence similarity 135, member B							175.0	168.0	170.0					8																	139164903		1903	4132	6035	SO:0001819	synonymous_variant	51059							g.chr8:139164903G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1815C>A	8.37:g.139164903G>T		HNSCC(54;0.14)					p.I605I	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1985	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		605					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.1815C>A	CCDS6375.2																																																																																				0.453	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		5	131	1	0	0.014758	1	0.015099	5	131				
POLI	11201	broad.mit.edu	37	18	51810358	51810358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51810358G>T	ENST00000579534.1	+	7	1185	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	POLI_ENST00000406285.3_Nonsense_Mutation_p.E269*|POLI_ENST00000217800.5_Nonsense_Mutation_p.E222*|POLI_ENST00000579434.1_Nonsense_Mutation_p.E245*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	348					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TAAGATTGAAGAACTACTTGC	0.299								DNA polymerases (catalytic subunits)																														ENST00000579534.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(1042-1044)Gaa>Taa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							51.0	49.0	50.0					18																	51810358		2197	4285	6482	SO:0001587	stop_gained	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51810358G>T		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1042G>T	18.37:g.51810358G>T	ENSP00000462664:p.Glu348*					POLI_ENST00000406285.3_Nonsense_Mutation_p.E269*|POLI_ENST00000579434.1_Nonsense_Mutation_p.E245*|POLI_ENST00000217800.5_Nonsense_Mutation_p.E222*	p.E348*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	7	1185	+			348					Q8N590|Q9H0S1|Q9NYH6	Nonsense_Mutation	SNP	ENST00000579534.1	37	c.1042G>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613697	0.87359	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	.	.	.	5.5	5.5	0.81552	.	0.172021	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-27.6044	18.5323	0.90997	0.0:0.0:1.0:0.0	.	.	.	.	X	269;348	.	ENSP00000217800:E348X	E	+	1	0	POLI	50064356	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.001000	0.63946	2.741000	0.93983	0.650000	0.86243	GAA		0.299	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		3	16	1	0	0.004672	1	0.00483628	3	16				
INTS4	92105	broad.mit.edu	37	11	77692505	77692505	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:77692505T>G	ENST00000534064.1	-	3	398	c.364A>C	c.(364-366)Aag>Cag	p.K122Q	INTS4_ENST00000529807.1_Splice_Site_p.K122Q	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	122					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGCAACTTACTTTCATTCTGC	0.328																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.e3+1		integrator complex subunit 4							90.0	81.0	84.0					11																	77692505		2200	4292	6492	SO:0001630	splice_region_variant	92105				snRNA processing	integrator complex	protein binding	g.chr11:77692505T>G	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.364+1A>C	11.37:g.77692505T>G						INTS4_ENST00000529807.1_Splice_Site_p.K122_splice	p.K122_splice	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		3	398	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		122					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Splice_Site	SNP	ENST00000534064.1	37	c.364_splice	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097238	0.76870	.	.	ENSG00000149262	ENST00000534064;ENST00000529807	T;T	0.66099	-0.19;1.32	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.051049	0.85682	D	0.000000	T	0.59101	0.2169	L	0.43152	1.355	0.80722	D	1	P	0.52316	0.952	P	0.46585	0.521	T	0.59311	-0.7478	9	.	.	.	-17.0803	14.4225	0.67193	0.0:0.0:0.0:1.0	.	122	Q96HW7	INT4_HUMAN	Q	122	ENSP00000434466:K122Q;ENSP00000433644:K122Q	.	K	-	1	0	INTS4	77370153	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.301000	0.78850	2.001000	0.58596	0.482000	0.46254	AAG		0.328	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547	Missense_Mutation	9	12	0	0	0	1	0	9	12				
NEURL4	84461	broad.mit.edu	37	17	7219540	7219540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7219540C>A	ENST00000399464.2	-	29	4606	c.4591G>T	c.(4591-4593)Gaa>Taa	p.E1531*	NEURL4_ENST00000574120.1_5'Flank|GPS2_ENST00000380728.2_5'Flank|GPS2_ENST00000389167.5_5'Flank|GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.E1507*|RP11-542C16.2_ENST00000575474.1_Intron|NEURL4_ENST00000315614.7_Nonsense_Mutation_p.E1529*	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1531						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGGAGGTTCTCCAAGGGCA	0.642																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4591-4593)Gaa>Taa		neuralized E3 ubiquitin protein ligase 4							55.0	63.0	60.0					17																	7219540		1996	4162	6158	SO:0001587	stop_gained	84461							g.chr17:7219540C>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4591G>T	17.37:g.7219540C>A	ENSP00000382390:p.Glu1531*					NEURL4_ENST00000315614.7_Nonsense_Mutation_p.E1529*|RP11-542C16.2_ENST00000575474.1_Intron|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.E1507*	p.E1531*	NM_032442.2	NP_115818.2					29	4606	-								Q6GPI8|Q96IU9|Q9H0B0	Nonsense_Mutation	SNP	ENST00000399464.2	37	c.4591G>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	43	10.389018	0.99396	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	4.78	3.74	0.42951	.	0.193906	0.34156	U	0.004219	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-8.8178	11.663	0.51358	0.0:0.8202:0.1798:0.0	.	.	.	.	X	1529;1531	.	ENSP00000319826:E1529X	E	-	1	0	NEURL4	7160264	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	4.562000	0.60816	2.192000	0.70111	0.563000	0.77884	GAA		0.642	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		19	50	1	0	1.33834e-09	1	1.61283e-09	19	50				
BMS1P20	96610	broad.mit.edu	37	22	22662019	22662019	+	RNA	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22662019T>G	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		GAATGTGGATTACTATGTACA	0.313																																						ENST00000426066.1																			0																																																			0							g.chr22:22662019T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22662019T>G								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.313	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			9	15	0	0	0	1	0	9	15				
PASK	23178	broad.mit.edu	37	2	242066686	242066686	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242066686A>C	ENST00000405260.1	-	10	2342	c.1644T>G	c.(1642-1644)gaT>gaG	p.D548E	PASK_ENST00000358649.4_Missense_Mutation_p.D548E|PASK_ENST00000539818.1_Missense_Mutation_p.D332E|PASK_ENST00000544142.1_Missense_Mutation_p.D362E|PASK_ENST00000234040.4_Missense_Mutation_p.D548E|PASK_ENST00000403638.3_Missense_Mutation_p.D548E	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	548					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGCTTCAGAATCTTCGCAGG	0.572																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1642-1644)gaT>gaG		PAS domain containing serine/threonine kinase							165.0	166.0	166.0					2																	242066686		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066686A>C	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1644T>G	2.37:g.242066686A>C	ENSP00000384016:p.Asp548Glu					PASK_ENST00000544142.1_Missense_Mutation_p.D362E|PASK_ENST00000539818.1_Missense_Mutation_p.D332E|PASK_ENST00000234040.4_Missense_Mutation_p.D548E|PASK_ENST00000405260.1_Missense_Mutation_p.D548E|PASK_ENST00000358649.4_Missense_Mutation_p.D548E	p.D548E	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1735	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	548					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1644T>G	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.916919	0.33815	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.51;-0.54;0.34	4.55	-9.09	0.00717	.	1.425070	0.04643	N	0.405738	T	0.50411	0.1614	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.11235	0.001;0.0;0.004;0.0;0.001	B;B;B;B;B	0.17433	0.003;0.002;0.018;0.002;0.003	T	0.42207	-0.9465	10	0.54805	T	0.06	.	4.3588	0.11192	0.1709:0.1161:0.4846:0.2285	.	513;362;548;548;548	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	E	548;362;548;548;332;548	ENSP00000234040:D548E;ENSP00000441374:D362E;ENSP00000384016:D548E;ENSP00000351475:D548E;ENSP00000443083:D332E;ENSP00000384438:D548E	ENSP00000234040:D548E	D	-	3	2	PASK	241715359	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.245000	0.00542	-2.099000	0.00849	-0.379000	0.06801	GAT		0.572	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		93	148	0	0	0	1	0	93	148				
PRG4	10216	broad.mit.edu	37	1	186275466	186275466	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186275466G>T	ENST00000445192.2	+	7	660	c.615G>T	c.(613-615)aaG>aaT	p.K205N	PRG4_ENST00000367484.3_Missense_Mutation_p.K164N|PRG4_ENST00000367486.3_Missense_Mutation_p.K162N|PRG4_ENST00000367485.4_Missense_Mutation_p.K112N|PRG4_ENST00000367483.4_Missense_Mutation_p.K164N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	205					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ATAACAAGAAGAACAGAACTA	0.343																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(613-615)aaG>aaT		proteoglycan 4							105.0	110.0	109.0					1																	186275466		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275466G>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.615G>T	1.37:g.186275466G>T	ENSP00000399679:p.Lys205Asn					PRG4_ENST00000367483.4_Missense_Mutation_p.K164N|PRG4_ENST00000367485.4_Missense_Mutation_p.K112N|PRG4_ENST00000367484.3_Missense_Mutation_p.K164N|PRG4_ENST00000367486.3_Missense_Mutation_p.K162N	p.K205N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	660	+			205					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.615G>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	4.966	0.179405	0.09443	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T	0.52057	2.94;3.24;0.68;3.12;3.3;3.24	4.07	3.06	0.35304	.	0.146164	0.30762	U	0.008921	T	0.55465	0.1922	M	0.64997	1.995	0.21861	N	0.999507	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.76575	0.988;0.988;0.946;0.988	T	0.44952	-0.9294	10	0.17369	T	0.5	-0.8643	4.261	0.10740	0.2727:0.0:0.7273:0.0	.	71;112;205;164	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	162;164;114;71;164;112;205	ENSP00000356456:K162N;ENSP00000356454:K164N;ENSP00000431330:K114N;ENSP00000356453:K164N;ENSP00000356455:K112N;ENSP00000399679:K205N	ENSP00000356452:K71N	K	+	3	2	PRG4	184542089	0.700000	0.27796	0.920000	0.36463	0.386000	0.30323	0.834000	0.27518	0.648000	0.30732	0.467000	0.42956	AAG		0.343	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		49	97	1	0	2.56175e-15	1	3.37031e-15	49	97				
SLC22A25	387601	broad.mit.edu	37	11	62996981	62996981	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62996981G>A	ENST00000306494.6	-	1	143	c.144C>T	c.(142-144)cgC>cgT	p.R48R	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GAACCCAGCAGCGATGATCAA	0.463																																						ENST00000306494.6																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(142-144)cgC>cgT		solute carrier family 22, member 25							158.0	147.0	151.0					11																	62996981		2201	4298	6499	SO:0001819	synonymous_variant	387601				transmembrane transport	integral to membrane		g.chr11:62996981G>A	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.144C>T	11.37:g.62996981G>A						SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	p.R48R	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN			1	143	-			48						Silent	SNP	ENST00000306494.6	37	c.144C>T	CCDS31592.1																																																																																				0.463	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		42	55	0	0	0	1	0	42	55				
TRPC4	7223	broad.mit.edu	37	13	38320162	38320162	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38320162T>G	ENST00000379705.3	-	3	1666	c.809A>C	c.(808-810)aAt>aCt	p.N270T	TRPC4_ENST00000358477.2_Missense_Mutation_p.N270T|TRPC4_ENST00000447043.1_Missense_Mutation_p.N270T|TRPC4_ENST00000379681.3_Missense_Mutation_p.N270T|TRPC4_ENST00000426868.2_Missense_Mutation_p.N270T|TRPC4_ENST00000379673.2_Missense_Mutation_p.N270T|TRPC4_ENST00000355779.2_Missense_Mutation_p.N270T|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	270	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCTCGGTAATTAAGAATGAT	0.413																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(808-810)aAt>aCt		transient receptor potential cation channel, subfamily C, member 4							186.0	176.0	179.0					13																	38320162		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320162T>G	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.809A>C	13.37:g.38320162T>G	ENSP00000369027:p.Asn270Thr					TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.N270T|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.N270T|TRPC4_ENST00000447043.1_Missense_Mutation_p.N270T|TRPC4_ENST00000355779.2_Missense_Mutation_p.N270T|TRPC4_ENST00000426868.2_Missense_Mutation_p.N270T|TRPC4_ENST00000379673.2_Missense_Mutation_p.N270T	p.N270T			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1666	-			270			Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.809A>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479511	0.84747	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	6.07	6.07	0.98685	.	0.039921	0.85682	D	0.000000	D	0.85852	0.5793	M	0.91038	3.17	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.844;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.999;0.501;0.999;0.999	D	0.88849	0.3318	10	0.87932	D	0	-31.952	16.6407	0.85098	0.0:0.0:0.0:1.0	.	270;270;270;270;270	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	T	270	ENSP00000369027:N270T;ENSP00000369003:N270T;ENSP00000410133:N270T;ENSP00000348025:N270T;ENSP00000351264:N270T;ENSP00000368995:N270T;ENSP00000414316:N270T	ENSP00000348025:N270T	N	-	2	0	TRPC4	37218162	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	AAT		0.413	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		10	125	0	0	0	1	0	10	125				
PRUNE2	158471	broad.mit.edu	37	9	79318459	79318459	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79318459T>G	ENST00000376718.3	-	9	8193	c.8070A>C	c.(8068-8070)gaA>gaC	p.E2690D	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E2331D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2690					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						GACCAGAGGCTTCCTCTAGTG	0.552																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6991-6993)gaA>gaC		prune homolog 2 (Drosophila)							78.0	71.0	73.0					9																	79318459		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318459T>G	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.8070A>C	9.37:g.79318459T>G	ENSP00000365908:p.Glu2690Asp					PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2690D	p.E2331D			Q8WUY3	PRUN2_HUMAN			9	8193	-			2690					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6993A>C	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.05|12.05	1.821209|1.821209	0.32237|0.32237	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.47869|.	0.83;0.83|.	5.93|5.93	0.877|0.877	0.19145|0.19145	.|.	0.322570|.	0.26836|.	N|.	0.022257|.	T|T	0.42810|0.42810	0.1219|0.1219	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.21606|.	0.045;0.058|.	B;B|.	0.21151|.	0.033;0.014|.	T|T	0.34825|0.34825	-0.9813|-0.9813	10|5	0.59425|.	D|.	0.04|.	-9.0078|-9.0078	5.7969|5.7969	0.18392|0.18392	0.0:0.3219:0.1454:0.5326|0.0:0.3219:0.1454:0.5326	.|.	2690;2690|.	Q8WUY3-3;Q8WUY3|.	.;PRUN2_HUMAN|.	D|R	2690;2331;2689|2012	ENSP00000365908:E2690D;ENSP00000397425:E2331D|.	ENSP00000365908:E2690D|.	E|S	-|-	3|1	2|0	PRUNE2|PRUNE2	78508279|78508279	0.848000|0.848000	0.29623|0.29623	0.028000|0.028000	0.17463|0.17463	0.968000|0.968000	0.65278|0.65278	0.532000|0.532000	0.23067|0.23067	0.153000|0.153000	0.19213|0.19213	0.482000|0.482000	0.46254|0.46254	GAA|AGC		0.552	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		31	43	0	0	0	1	0	31	43				
MUM1L1	139221	broad.mit.edu	37	X	105451046	105451046	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105451046C>A	ENST00000357175.2	+	4	2270	c.1621C>A	c.(1621-1623)Ctc>Atc	p.L541I	MUM1L1_ENST00000337685.2_Missense_Mutation_p.L541I|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L541I	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	541						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAAAAAATTCTCCCTGACCG	0.473																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1621-1623)Ctc>Atc		melanoma associated antigen (mutated) 1-like 1							56.0	49.0	51.0					X																	105451046		1859	4076	5935	SO:0001583	missense	139221							g.chrX:105451046C>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1621C>A	X.37:g.105451046C>A	ENSP00000349699:p.Leu541Ile					MUM1L1_ENST00000357175.2_Missense_Mutation_p.L541I|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L541I	p.L541I	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	2406	+			541					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1621C>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493745	0.64186	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.46819	0.86;0.86;0.86	5.08	5.08	0.68730	.	0.000000	0.46758	D	0.000264	T	0.66973	0.2844	M	0.73598	2.24	0.34774	D	0.734005	D	0.76494	0.999	D	0.80764	0.994	T	0.77776	-0.2461	10	0.87932	D	0	-15.6989	12.7039	0.57049	0.0:1.0:0.0:0.0	.	541	Q5H9M0	MUML1_HUMAN	I	541	ENSP00000349699:L541I;ENSP00000338641:L541I;ENSP00000361632:L541I	ENSP00000338641:L541I	L	+	1	0	MUM1L1	105337702	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.462000	0.66707	2.494000	0.84150	0.600000	0.82982	CTC		0.473	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		9	13	1	0	1.12685e-05	1	1.24509e-05	9	13				
SLIT2	9353	broad.mit.edu	37	4	20525762	20525762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20525762G>T	ENST00000504154.1	+	14	1652	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	SLIT2_ENST00000503823.1_Missense_Mutation_p.R467I|SLIT2_ENST00000273739.5_Missense_Mutation_p.R471I|SLIT2_ENST00000503837.1_Missense_Mutation_p.R471I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	467	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAAACAAAAGAATTGGACAG	0.478																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1399-1401)aGa>aTa		slit homolog 2 (Drosophila)							107.0	122.0	117.0					4																	20525762		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525762G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1400G>T	4.37:g.20525762G>T	ENSP00000422591:p.Arg467Ile					SLIT2_ENST00000273739.5_Missense_Mutation_p.R471I|SLIT2_ENST00000503823.1_Missense_Mutation_p.R467I|SLIT2_ENST00000503837.1_Missense_Mutation_p.R471I	p.R467I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			14	1652	+			467			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1400G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333198	0.95758	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81163	-1.46;-1.46;-1.37;-1.44	5.93	5.93	0.95920	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91119	0.7204	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91338	0.5095	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	467;467	O94813-3;O94813	.;SLIT2_HUMAN	I	467;467;471;471;471	ENSP00000427548:R467I;ENSP00000422591:R467I;ENSP00000273739:R471I;ENSP00000422261:R471I	ENSP00000273739:R471I	R	+	2	0	SLIT2	20134860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.805000	0.96524	0.655000	0.94253	AGA		0.478	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			45	124	1	0	5.78141e-17	1	7.72733e-17	45	124				
MTUS1	57509	broad.mit.edu	37	8	17611644	17611644	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17611644C>A	ENST00000262102.6	-	2	1897	c.1673G>T	c.(1672-1674)aGa>aTa	p.R558I	MTUS1_ENST00000519263.1_Missense_Mutation_p.R558I|MTUS1_ENST00000381862.3_Missense_Mutation_p.R558I|MTUS1_ENST00000381869.3_Missense_Mutation_p.R558I	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	558					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAAGTCAGATCTCGGTGTTCT	0.428																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(1672-1674)aGa>aTa		microtubule associated tumor suppressor 1							273.0	252.0	259.0					8																	17611644		1986	4161	6147	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611644C>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1673G>T	8.37:g.17611644C>A	ENSP00000262102:p.Arg558Ile					MTUS1_ENST00000519263.1_Missense_Mutation_p.R558I|MTUS1_ENST00000262102.6_Missense_Mutation_p.R558I|MTUS1_ENST00000381862.3_Missense_Mutation_p.R558I	p.R558I	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2146	-			558					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.1673G>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295043	0.23564	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.36340	2.67;1.26;2.67;1.72	5.1	4.22	0.49857	.	0.079276	0.49916	D	0.000123	T	0.36799	0.0980	L	0.34521	1.04	0.20196	N	0.999929	D;D;D	0.56746	0.977;0.96;0.96	P;P;P	0.54100	0.742;0.605;0.509	T	0.15464	-1.0436	10	0.87932	D	0	-14.6443	7.6496	0.28340	0.0:0.7074:0.1763:0.1163	.	558;558;558	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	I	558	ENSP00000371293:R558I;ENSP00000262102:R558I;ENSP00000430167:R558I;ENSP00000371286:R558I	ENSP00000262102:R558I	R	-	2	0	MTUS1	17655924	0.005000	0.15991	0.015000	0.15790	0.010000	0.07245	0.665000	0.25083	1.525000	0.49052	0.650000	0.86243	AGA		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		62	136	1	0	1.88225e-35	1	2.70619e-35	62	136				
DGKK	139189	broad.mit.edu	37	X	50129446	50129446	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50129446C>A	ENST00000376025.2	-	0	2316							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCTATGTGGTCTATTTGAGGA	0.473																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							163.0	136.0	145.0					X																	50129446		2026	4182	6208			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50129446C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50129446C>A										Q5KSL6	DGKK_HUMAN			0	2316	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.473	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		19	38	1	0	1.00905e-13	1	1.29777e-13	19	38				
ARG1	383	broad.mit.edu	37	6	131904520	131904520	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:131904520T>G	ENST00000368087.3	+	7	830	c.691T>G	c.(691-693)Ttt>Gtt	p.F231V	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.F239V			P05089	ARGI1_HUMAN	arginase 1	231					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TCATCTAAGTTTTGATGTTGA	0.403																																						ENST00000368087.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14						c.(691-693)Ttt>Gtt		arginase 1	L-Ornithine(DB00129)						114.0	110.0	111.0					6																	131904520		2203	4300	6503	SO:0001583	missense	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131904520T>G		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.691T>G	6.37:g.131904520T>G	ENSP00000357066:p.Phe231Val					MED23_ENST00000354577.4_Intron|ARG1_ENST00000476845.1_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.F239V	p.F231V			P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	7	830	+	Breast(56;0.0753)		231					A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	ENST00000368087.3	37	c.691T>G	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	T	33	5.222735	0.95139	.	.	ENSG00000118520	ENST00000368087;ENST00000356962	D;D	0.85411	-1.98;-1.98	6.02	6.02	0.97574	Ureohydrolase domain (1);	0.252260	0.45867	D	0.000327	D	0.90865	0.7130	M	0.80422	2.495	0.80722	D	1	D;D	0.63046	0.989;0.992	D;D	0.71184	0.971;0.972	D	0.92233	0.5794	10	0.87932	D	0	-10.3573	14.4967	0.67694	0.0:0.0:0.0:1.0	.	239;231	P05089-2;P05089	.;ARGI1_HUMAN	V	231;239	ENSP00000357066:F231V;ENSP00000349446:F239V	ENSP00000349446:F239V	F	+	1	0	ARG1	131946213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.803000	0.69129	2.311000	0.77944	0.533000	0.62120	TTT		0.403	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			32	67	0	0	0	1	0	32	67				
SLIT1	6585	broad.mit.edu	37	10	98825776	98825776	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:98825776T>G	ENST00000266058.4	-	5	726	c.481A>C	c.(481-483)Aat>Cat	p.N161H	SLIT1_ENST00000371070.4_Missense_Mutation_p.N161H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.N161H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	161					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACTCACAAATTTTTAAGGTCC	0.587																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(481-483)Aat>Cat		slit homolog 1 (Drosophila)							46.0	40.0	42.0					10																	98825776		2203	4299	6502	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98825776T>G	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.481A>C	10.37:g.98825776T>G	ENSP00000266058:p.Asn161His					SLIT1_ENST00000371070.4_Missense_Mutation_p.N161H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.N161H	p.N161H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	5	726	-		Colorectal(252;0.162)	161					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.481A>C	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290993	0.59976	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	N	0.04705	-0.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.61128	-0.7125	10	0.46703	T	0.11	.	14.5227	0.67863	0.0:0.0:0.0:1.0	.	161;161	E7EWQ8;O75093	.;SLIT1_HUMAN	H	161;161;137;161;144;137;161	ENSP00000266058:N161H;ENSP00000360109:N161H;ENSP00000315005:N144H;ENSP00000360080:N161H	ENSP00000266058:N161H	N	-	1	0	SLIT1	98815766	1.000000	0.71417	0.961000	0.40146	0.317000	0.28152	7.408000	0.80041	2.040000	0.60383	0.402000	0.26972	AAT		0.587	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		4	5	0	0	0	1	0	4	5				
HMCN1	83872	broad.mit.edu	37	1	186055441	186055441	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186055441C>A	ENST00000271588.4	+	58	9177	c.8948C>A	c.(8947-8949)tCt>tAt	p.S2983Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2983Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2983	Ig-like C2-type 28.				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						AATTTCATCTCTTTGACCTGT	0.413																																						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.(8947-8949)tCt>tAt		hemicentin 1							135.0	128.0	130.0					1																	186055441		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186055441C>A	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.8948C>A	1.37:g.186055441C>A	ENSP00000271588:p.Ser2983Tyr					HMCN1_ENST00000367492.2_Missense_Mutation_p.S2983Y	p.S2983Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			58	9177	+			2983			Ig-like C2-type 28.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.8948C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939904	0.92526	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68331	-0.32;-0.32	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047965	0.85682	D	0.000000	T	0.82038	0.4950	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82002	-0.0673	10	0.52906	T	0.07	.	19.6094	0.95599	0.0:1.0:0.0:0.0	.	2983	Q96RW7	HMCN1_HUMAN	Y	2983	ENSP00000271588:S2983Y;ENSP00000356462:S2983Y	ENSP00000271588:S2983Y	S	+	2	0	HMCN1	184322064	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.452000	0.80683	2.626000	0.88956	0.563000	0.77884	TCT		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	29	1	0	1.99824e-07	1	2.29918e-07	18	29				
PPRC1	23082	broad.mit.edu	37	10	103898913	103898913	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:103898913G>T	ENST00000278070.2	+	5	687	c.648G>T	c.(646-648)gaG>gaT	p.E216D	PPRC1_ENST00000413464.2_Missense_Mutation_p.E216D|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTTTCTTAGAGACCTCTTCCC	0.552																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(646-648)gaG>gaT		peroxisome proliferator-activated receptor gamma, coactivator-related 1							87.0	94.0	92.0					10																	103898913		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898913G>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.648G>T	10.37:g.103898913G>T	ENSP00000278070:p.Glu216Asp					PPRC1_ENST00000413464.2_Missense_Mutation_p.E216D	p.E216D	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	687	+		Colorectal(252;0.122)	216					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.648G>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	6.035	0.374746	0.11409	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.57907	0.37;0.37	5.6	-1.54	0.08584	.	0.322522	0.29015	N	0.013411	T	0.27594	0.0678	N	0.12182	0.205	0.22112	N	0.999355	B;B;B	0.14012	0.005;0.009;0.005	B;B;B	0.15484	0.006;0.013;0.006	T	0.14448	-1.0472	10	0.27785	T	0.31	.	8.6896	0.34258	0.1463:0.4952:0.3585:0.0	.	216;96;216	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	D	216	ENSP00000278070:E216D;ENSP00000399743:E216D	ENSP00000278070:E216D	E	+	3	2	PPRC1	103888903	0.001000	0.12720	0.924000	0.36721	0.025000	0.11179	-0.433000	0.06948	-0.224000	0.09928	0.561000	0.74099	GAG		0.552	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		7	100	1	0	0.00307968	1	0.00320271	7	100				
LETM2	137994	broad.mit.edu	37	8	38257891	38257891	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:38257891C>T	ENST00000379957.4	+	5	874	c.747C>T	c.(745-747)ggC>ggT	p.G249G	RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000527710.1_Silent_p.G35G|LETM2_ENST00000297720.5_Silent_p.G154G|LETM2_ENST00000524874.1_Silent_p.G201G|LETM2_ENST00000523983.2_Silent_p.G202G	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	249	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCAAGATGGGCGATGCCTCTA	0.438																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(745-747)ggC>ggT		leucine zipper-EF-hand containing transmembrane protein 2							127.0	103.0	111.0					8																	38257891		2203	4300	6503	SO:0001819	synonymous_variant	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38257891C>T	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.747C>T	8.37:g.38257891C>T						LETM2_ENST00000527710.1_Silent_p.G35G|LETM2_ENST00000297720.5_Silent_p.G154G|LETM2_ENST00000524874.1_Silent_p.G201G|LETM2_ENST00000523983.2_Silent_p.G202G	p.G249G	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		5	874	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	249			LETM1.		A6NMG3|Q8NCR2|Q96LL1	Silent	SNP	ENST00000379957.4	37	c.747C>T																																																																																					0.438	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		27	36	0	0	0	1	0	27	36				
ELMO1	9844	broad.mit.edu	37	7	37264564	37264564	+	Silent	SNP	C	C	T	rs148167670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:37264564C>T	ENST00000310758.4	-	9	1268	c.621G>A	c.(619-621)tcG>tcA	p.S207S	ELMO1_ENST00000448602.1_Silent_p.S207S|ELMO1_ENST00000442504.1_Silent_p.S207S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	207					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.S207S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGAGCACCATCGACTCCAAAA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20137	0.0		0.001	False		,,,				2504	0.0					ENST00000310758.4																			1	Substitution - coding silent(1)	p.S207S(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(619-621)tcG>tcA		engulfment and cell motility 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	126.0	104.0	111.0		621,621,621	-9.2	0.8	7	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	207/728,207/728,207/728	37264564	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37264564C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.621G>A	7.37:g.37264564C>T						ELMO1_ENST00000442504.1_Silent_p.S207S|ELMO1_ENST00000448602.1_Silent_p.S207S	p.S207S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			9	1268	-			207					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.621G>A	CCDS5449.1																																																																																				0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		21	41	0	0	0	1	0	21	41				
OR6B1	135946	broad.mit.edu	37	7	143701692	143701692	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143701692C>A	ENST00000408922.2	+	1	671	c.603C>A	c.(601-603)atC>atA	p.I201I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TAGACTTTATCCTGGCACTGG	0.458																																						ENST00000408922.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(601-603)atC>atA		olfactory receptor, family 6, subfamily B, member 1							191.0	183.0	186.0					7																	143701692		2010	4194	6204	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701692C>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.603C>A	7.37:g.143701692C>A							p.I201I	NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN			1	671	+	Melanoma(164;0.0783)		201					A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.603C>A	CCDS43667.1																																																																																				0.458	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			25	92	1	0	1.55469e-16	1	2.07108e-16	25	92				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74835209	74835209	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74835209C>T	ENST00000370899.3	+	18	1947	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A637V|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.A637V|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A536V|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A650V	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AGCCAGTTTGCCATTGTCACT	0.468																																						ENST00000370895.1																			0											c.(1909-1911)gCc>gTc									256.0	226.0	236.0					1																	74835209		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74835209C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1910C>T	1.37:g.74835209C>T	ENSP00000359936:p.Ala637Val					TNNI3K_ENST00000326637.3_Missense_Mutation_p.A536V|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A637V|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A637V|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A637V	p.A637V			Q59H18	TNI3K_HUMAN			18	1945	+			536		T -> M (in dbSNP:rs2274260).	Protein kinase.			Missense_Mutation	SNP	ENST00000370899.3	37	c.1910C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.261566|5.261566	0.95368|0.95368	.|.	.|.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783|ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020|ENST00000526236;ENST00000525480	T;T;T;T;T;T|.	0.33865|.	1.39;1.39;1.39;1.39;1.39;1.39|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45498|0.45498	0.1345|0.1345	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.996|.	D;D;D;D|.	0.79784|.	0.993;0.988;0.988;0.99|.	T|T	0.39722|0.39722	-0.9600|-0.9600	10|5	0.52906|.	T|.	0.07|.	.|.	18.8831|18.8831	0.92364|0.92364	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	536;637;637;637|.	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3|.	TNI3K_HUMAN;.;.;.|.	V|S	637;637;637;637;536;60|83;56	ENSP00000359936:A637V;ENSP00000359932:A637V;ENSP00000450895:A637V;ENSP00000359928:A637V;ENSP00000322251:A536V;ENSP00000434975:A60V|.	ENSP00000322251:A536V|.	A|P	+|+	2|1	0|0	RP11-653A5.2;AC093158.1|AC093158.1	74607797|74607797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.355000|7.355000	0.79434|0.79434	2.449000|2.449000	0.82847|0.82847	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.468	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			27	62	0	0	0	1	0	27	62				
G2E3	55632	broad.mit.edu	37	14	31077225	31077225	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31077225C>T	ENST00000206595.6	+	12	1604	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	G2E3_ENST00000553504.1_Missense_Mutation_p.P514S|G2E3_ENST00000438909.2_Missense_Mutation_p.P438S	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	484	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAATACCCAGCCAATTTTAGA	0.363																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1450-1452)Cca>Tca		G2/M-phase specific E3 ubiquitin protein ligase							139.0	128.0	132.0					14																	31077225		2203	4300	6503	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31077225C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1450C>T	14.37:g.31077225C>T	ENSP00000206595:p.Pro484Ser					G2E3_ENST00000553504.1_Missense_Mutation_p.P514S|G2E3_ENST00000438909.2_Missense_Mutation_p.P438S	p.P484S	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			12	1604	+			484			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.1450C>T	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045419	0.93685	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.57107	0.42;0.42;0.42	5.43	5.43	0.79202	HECT (2);	0.052551	0.85682	D	0.000000	T	0.73418	0.3584	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75833	-0.3178	10	0.72032	D	0.01	-13.6808	19.2391	0.93875	0.0:1.0:0.0:0.0	.	484	Q7L622	G2E3_HUMAN	S	484;438;514	ENSP00000206595:P484S;ENSP00000391068:P438S;ENSP00000451653:P514S	ENSP00000206595:P484S	P	+	1	0	G2E3	30146976	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.829000	0.75314	2.510000	0.84645	0.591000	0.81541	CCA		0.363	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		4	64	0	0	0	1	0	4	64				
NPAS3	64067	broad.mit.edu	37	14	34270072	34270072	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:34270072C>T	ENST00000356141.4	+	12	2559	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	NPAS3_ENST00000551492.1_Silent_p.F858F|NPAS3_ENST00000346562.2_Silent_p.F821F|NPAS3_ENST00000548645.1_Silent_p.F823F|NPAS3_ENST00000357798.5_Silent_p.F840F			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	853					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTGTTAACTTCGTGGACGTTA	0.647																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2461-2463)ttC>ttT		neuronal PAS domain protein 3							42.0	30.0	34.0					14																	34270072		2203	4298	6501	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34270072C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2559C>T	14.37:g.34270072C>T						NPAS3_ENST00000551492.1_Silent_p.F858F|NPAS3_ENST00000357798.5_Silent_p.F840F|NPAS3_ENST00000356141.4_Silent_p.F853F|NPAS3_ENST00000548645.1_Silent_p.F823F	p.F821F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2537	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		853					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.2463C>T	CCDS53891.1																																																																																				0.647	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			11	9	0	0	0	1	0	11	9				
CHST11	50515	broad.mit.edu	37	12	105151374	105151374	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105151374G>T	ENST00000303694.5	+	3	1291	c.852G>T	c.(850-852)gaG>gaT	p.E284D	CHST11_ENST00000549260.1_Missense_Mutation_p.E279D	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	284					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CACTGGAAGAGGATTCTAATT	0.517																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(850-852)gaG>gaT		carbohydrate (chondroitin 4) sulfotransferase 11							121.0	103.0	109.0					12																	105151374		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151374G>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.852G>T	12.37:g.105151374G>T	ENSP00000305725:p.Glu284Asp					CHST11_ENST00000549260.1_Missense_Mutation_p.E279D	p.E284D	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	1291	+			284					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.852G>T	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	9.946	1.218797	0.22373	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.74209	-0.82;-0.82	5.37	1.14	0.20703	.	0.145331	0.64402	D	0.000009	T	0.49643	0.1569	N	0.16602	0.42	0.80722	D	1	B;B	0.13594	0.0;0.008	B;B	0.18871	0.003;0.023	T	0.16100	-1.0414	10	0.20046	T	0.44	-32.8582	3.3252	0.07064	0.1371:0.1163:0.5078:0.2388	.	279;284	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	D	279;284	ENSP00000450004:E279D;ENSP00000305725:E284D	ENSP00000305725:E284D	E	+	3	2	CHST11	103675504	0.973000	0.33851	1.000000	0.80357	0.986000	0.74619	0.119000	0.15626	0.615000	0.30124	-0.266000	0.10368	GAG		0.517	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		21	28	1	0	1.00905e-13	1	1.29777e-13	21	28				
NIN	51199	broad.mit.edu	37	14	51210967	51210967	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51210967G>A	ENST00000382041.3	-	23	5371	c.5181C>T	c.(5179-5181)gtC>gtT	p.V1727V	NIN_ENST00000245441.5_Silent_p.V1727V|NIN_ENST00000382043.4_Silent_p.V1014V|NIN_ENST00000453196.1_Silent_p.V1727V|NIN_ENST00000530997.2_Silent_p.V1727V|NIN_ENST00000324330.9_Silent_p.V1727V|NIN_ENST00000389868.3_Silent_p.V1014V	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1727					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTACCTTATCGACACAGCTAT	0.408			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(5179-5181)gtC>gtT		ninein (GSK3B interacting protein)							247.0	210.0	223.0					14																	51210967		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51210967G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5181C>T	14.37:g.51210967G>A						NIN_ENST00000389868.3_Silent_p.V1014V|NIN_ENST00000324330.9_Silent_p.V1727V|NIN_ENST00000530997.2_Silent_p.V1727V|NIN_ENST00000382043.4_Silent_p.V1014V|NIN_ENST00000453196.1_Silent_p.V1727V|NIN_ENST00000382041.3_Silent_p.V1727V	p.V1727V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			23	5371	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1727					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.5181C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.213197	0.01555	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.84	-7.15	0.01521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0993	2.7421	0.05256	0.1453:0.4365:0.1836:0.2346	.	.	.	.	X	1218	.	.	R	-	1	2	NIN	50280717	0.003000	0.15002	0.002000	0.10522	0.069000	0.16628	-0.835000	0.04386	-1.457000	0.01919	-1.139000	0.01908	CGA		0.408	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		25	55	0	0	0	1	0	25	55				
SLC38A3	10991	broad.mit.edu	37	3	50255384	50255384	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:50255384C>T	ENST00000420502.1	+	0	1044									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CCTTCGCCTTCGTCTGCCACC	0.617																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						59.0	66.0	63.0					3																	50255384		2156	4282	6438			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255384C>T	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255384C>T										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	1044	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.617	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		12	37	0	0	0	1	0	12	37				
PMFBP1	83449	broad.mit.edu	37	16	72184724	72184724	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:72184724A>C	ENST00000237353.10	-	5	680	c.419T>G	c.(418-420)aTt>aGt	p.I140S	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000537465.1_Missense_Mutation_p.I140S	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	140						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCATAGAGAATCACCTGTAG	0.498																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(418-420)aTt>aGt		polyamine modulated factor 1 binding protein 1							85.0	79.0	81.0					16																	72184724		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72184724A>C	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.419T>G	16.37:g.72184724A>C	ENSP00000237353:p.Ile140Ser					PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.I140S	p.I140S			Q8TBY8	PMFBP_HUMAN			5	577	-		Ovarian(137;0.179)	140					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.419T>G	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064940	0.36470	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461	T;T	0.76968	-1.06;-1.06	6.17	1.62	0.23740	.	0.120406	0.38217	N	0.001768	T	0.62245	0.2412	N	0.24115	0.695	0.80722	D	1	P;P	0.42296	0.775;0.775	B;B	0.42282	0.382;0.382	T	0.55335	-0.8157	10	0.33141	T	0.24	-4.6168	7.519	0.27616	0.6872:0.0:0.3128:0.0	.	140;140	Q8TBY8-2;G3V1Q7	.;.	S	140	ENSP00000443817:I140S;ENSP00000237353:I140S	ENSP00000237353:I140S	I	-	2	0	PMFBP1	70742225	0.994000	0.37717	0.999000	0.59377	0.920000	0.55202	0.846000	0.27682	0.582000	0.29556	0.533000	0.62120	ATT		0.498	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		30	38	0	0	0	1	0	30	38				
S1PR1	1901	broad.mit.edu	37	1	101704898	101704898	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101704898C>T	ENST00000305352.6	+	2	733	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	120	Sphingosine 1-phosphate binding.				actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GTGGTTTCTGCGGGAAGGGAG	0.552											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(358-360)Cgg>Tgg		sphingosine-1-phosphate receptor 1							68.0	67.0	67.0					1																	101704898		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704898C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.358C>T	1.37:g.101704898C>T	ENSP00000305416:p.Arg120Trp		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_ENST00000475821.1_3'UTR	p.R120W	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	733	+			120					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.358C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086761	0.55861	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36878	1.23	5.74	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72350	-0.4320	10	0.87932	D	0	.	13.0608	0.59005	0.4405:0.5595:0.0:0.0	.	120	P21453	S1PR1_HUMAN	W	120	ENSP00000305416:R120W	ENSP00000305416:R120W	R	+	1	2	S1PR1	101477486	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	3.567000	0.53813	1.403000	0.46800	0.555000	0.69702	CGG		0.552	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		32	53	0	0	0	1	0	32	53				
A2ML1	144568	broad.mit.edu	37	12	8995860	8995860	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8995860G>A	ENST00000299698.7	+	12	1559	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGGCTAAACGGCCCCTTGAAA	0.552																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(1378-1380)gGc>gAc		alpha-2-macroglobulin-like 1							77.0	79.0	78.0					12																	8995860		1979	4161	6140	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8995860G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1379G>A	12.37:g.8995860G>A	ENSP00000299698:p.Gly460Asp						p.G460D	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			12	1559	+			304						Missense_Mutation	SNP	ENST00000299698.7	37	c.1379G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	4.505	0.093618	0.08632	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459	T;T	0.62105	0.05;0.05	4.24	2.19	0.27852	Alpha-2-macroglobulin, N-terminal 2 (1);	0.522689	0.16472	N	0.212904	T	0.51210	0.1661	L	0.48362	1.52	0.09310	N	1	B	0.15719	0.014	B	0.24006	0.05	T	0.43572	-0.9383	10	0.40728	T	0.16	.	6.2912	0.21061	0.4138:0.0:0.5862:0.0	.	460	A8K2U0	A2ML1_HUMAN	D	460;460;10	ENSP00000299698:G460D;ENSP00000443174:G10D	ENSP00000299698:G460D	G	+	2	0	A2ML1	8887127	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	-0.071000	0.11505	0.623000	0.30267	0.561000	0.74099	GGC		0.552	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		38	71	0	0	0	1	0	38	71				
OR10P1	121130	broad.mit.edu	37	12	56031002	56031002	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56031002C>T	ENST00000309675.2	+	1	359	c.327C>T	c.(325-327)ggC>ggT	p.G109G	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TTGTCCTGGGCATCTCGGAGT	0.617																																						ENST00000309675.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(325-327)ggC>ggT		olfactory receptor, family 10, subfamily P, member 1							83.0	72.0	76.0					12																	56031002		2203	4300	6503	SO:0001819	synonymous_variant	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031002C>T	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.327C>T	12.37:g.56031002C>T							p.G109G	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	359	+			109					B9EGY4	Silent	SNP	ENST00000309675.2	37	c.327C>T	CCDS31828.1																																																																																				0.617	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			19	40	0	0	0	1	0	19	40				
P2RY8	286530	broad.mit.edu	37	X	1584447	1584447	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1584447G>A	ENST00000381297.4	-	2	1215	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	335						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCGGCCTCGGAGCGCACGG	0.701			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(1003-1005)tcC>tcT		purinergic receptor P2Y, G-protein coupled, 8							43.0	50.0	48.0					X																	1584447		2203	4295	6498	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584447G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.1005C>T	X.37:g.1584447G>A							p.S335S	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	1215	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	335						Silent	SNP	ENST00000381297.4	37	c.1005C>T	CCDS14115.1																																																																																				0.701	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		25	66	0	0	0	1	0	25	66				
FLNA	2316	broad.mit.edu	37	X	153581372	153581372	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153581372C>T	ENST00000369850.3	-	38	6459	c.6223G>A	c.(6223-6225)Gca>Aca	p.A2075T	FLNA_ENST00000344736.4_Missense_Mutation_p.A2035T|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.A2067T|FLNA_ENST00000422373.1_Missense_Mutation_p.A2067T|FLNA_ENST00000369856.3_Missense_Mutation_p.A208T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2075					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)					TGCCTACCTGCATCGCGGGTA	0.602																																						ENST00000422373.1																			0				breast(6)	6						c.(6199-6201)Gca>Aca		filamin A, alpha							38.0	40.0	40.0					X																	153581372		1962	4126	6088	SO:0001583	missense	0				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:153581372C>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.6223G>A	X.37:g.153581372C>T	ENSP00000358866:p.Ala2075Thr					FLNA_ENST00000360319.4_Missense_Mutation_p.A2067T|FLNA_ENST00000369850.3_Missense_Mutation_p.A2075T|FLNA_ENST00000344736.4_Missense_Mutation_p.A2035T|FLNA_ENST00000369856.3_Missense_Mutation_p.A208T	p.A2067T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			37	6447	-	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)		2075					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.6199G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909110	0.92107	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.5	4.65	0.58169	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	H	0.94462	3.54	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.985;0.998;0.998	D;P;D;D	0.97110	1.0;0.74;0.937;0.937	D	0.95743	0.8785	10	0.87932	D	0	.	13.535	0.61643	0.0:0.9231:0.0:0.0769	.	208;2067;2075;2075	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	T	2067;2067;2075;208;2035;56	ENSP00000353467:A2067T;ENSP00000416926:A2067T;ENSP00000358866:A2075T;ENSP00000358872:A208T;ENSP00000358863:A2035T;ENSP00000397824:A56T	ENSP00000358863:A2035T	A	-	1	0	FLNA	153234566	1.000000	0.71417	0.997000	0.53966	0.624000	0.37722	7.745000	0.85046	1.108000	0.41662	0.436000	0.28706	GCA		0.602	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			7	51	0	0	0	1	0	7	51				
ASTN1	460	broad.mit.edu	37	1	177030254	177030254	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:177030254G>A	ENST00000367654.3	-	2	642	c.431C>T	c.(430-432)tCg>tTg	p.S144L	ASTN1_ENST00000367657.3_Missense_Mutation_p.S144L|ASTN1_ENST00000361833.2_Missense_Mutation_p.S144L|ASTN1_ENST00000424564.2_Missense_Mutation_p.S144L|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	144					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTTCTGCCGACTCATGTTG	0.507																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(430-432)tCg>tTg		astrotactin 1							231.0	215.0	220.0					1																	177030254		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030254G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.431C>T	1.37:g.177030254G>A	ENSP00000356626:p.Ser144Leu					ASTN1_ENST00000361833.2_Missense_Mutation_p.S144L|ASTN1_ENST00000367657.3_Missense_Mutation_p.S144L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.S144L	p.S144L			O14525	ASTN1_HUMAN			2	444	-			144					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.431C>T		.	.	.	.	.	.	.	.	.	.	G	16.63	3.177523	0.57692	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15017	2.46;2.88;2.88;2.46	6.06	6.06	0.98353	.	0.143214	0.48767	D	0.000170	T	0.13329	0.0323	L	0.40543	1.245	0.58432	D	0.999997	P;P;P	0.47841	0.901;0.83;0.83	B;B;B	0.28465	0.09;0.09;0.09	T	0.09840	-1.0656	10	0.24483	T	0.36	-7.1301	20.2159	0.98296	0.0:0.0:1.0:0.0	.	144;144;144	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	144	ENSP00000356629:S144L;ENSP00000354536:S144L;ENSP00000356626:S144L;ENSP00000395041:S144L	ENSP00000354536:S144L	S	-	2	0	ASTN1	175296877	1.000000	0.71417	0.968000	0.41197	0.817000	0.46193	7.647000	0.83462	2.882000	0.98803	0.655000	0.94253	TCG		0.507	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		47	88	0	0	0	1	0	47	88				
ITCH	83737	broad.mit.edu	37	20	33092154	33092154	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33092154A>C	ENST00000262650.6	+	25	2694	c.2558A>C	c.(2557-2559)aAa>aCa	p.K853T	ITCH_ENST00000374864.4_Missense_Mutation_p.K812T|ITCH_ENST00000535650.1_Missense_Mutation_p.K702T			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	853	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGACCACAGAAATTCTGCATT	0.378																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2434-2436)aAa>aCa		itchy E3 ubiquitin protein ligase							112.0	109.0	110.0					20																	33092154		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33092154A>C	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2558A>C	20.37:g.33092154A>C	ENSP00000262650:p.Lys853Thr					ITCH_ENST00000535650.1_Missense_Mutation_p.K702T|ITCH_ENST00000262650.6_Missense_Mutation_p.K853T	p.K812T	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			24	2648	+			853			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.2435A>C	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714375	0.89112	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.60548	0.18;0.18;0.18	5.55	5.55	0.83447	HECT (4);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.993;1.0;0.998	D;D;D	0.77557	0.99;0.99;0.99	T	0.80367	-0.1412	10	0.72032	D	0.01	.	15.5114	0.75786	1.0:0.0:0.0:0.0	.	764;853;812	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	T	812;702;853	ENSP00000363998:K812T;ENSP00000445608:K702T;ENSP00000262650:K853T	ENSP00000262650:K853T	K	+	2	0	ITCH	32555815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.330000	0.79161	0.477000	0.44152	AAA		0.378	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			10	25	0	0	0	1	0	10	25				
DCC	1630	broad.mit.edu	37	18	50923743	50923743	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50923743C>A	ENST00000442544.2	+	18	3370	c.2754C>A	c.(2752-2754)ttC>ttA	p.F918L	DCC_ENST00000581580.1_Missense_Mutation_p.F553L|DCC_ENST00000412726.1_Missense_Mutation_p.F746L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	918	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.F918L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTATGAATTCTCGGTCATGG	0.403																																						ENST00000442544.2																			1	Substitution - Missense(1)	p.F918L(1)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2752-2754)ttC>ttA		deleted in colorectal carcinoma							119.0	104.0	109.0					18																	50923743		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50923743C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2754C>A	18.37:g.50923743C>A	ENSP00000389140:p.Phe918Leu					DCC_ENST00000581580.1_Missense_Mutation_p.F553L|DCC_ENST00000412726.1_Missense_Mutation_p.F746L	p.F918L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	18	3370	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	918			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2754C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449441	0.43531	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.59906	0.23;0.23	5.8	4.93	0.64822	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76421	0.3985	M	0.87097	2.86	0.50632	D	0.999885	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.993	T	0.77953	-0.2394	10	0.45353	T	0.12	.	9.9653	0.41721	0.0:0.8434:0.0:0.1566	.	746;746;918	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	918;746	ENSP00000389140:F918L;ENSP00000397322:F746L	ENSP00000397322:F746L	F	+	3	2	DCC	49177741	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.476000	0.35420	1.455000	0.47813	0.650000	0.86243	TTC		0.403	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		15	35	1	0	7.93312e-07	1	8.98086e-07	15	35				
ERG	2078	broad.mit.edu	37	21	39775498	39775498	+	Silent	SNP	G	G	A	rs372583032		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:39775498G>A	ENST00000417133.2	-	6	728	c.543C>T	c.(541-543)gaC>gaT	p.D181D	ERG_ENST00000398919.2_Silent_p.D181D|ERG_ENST00000398905.1_Silent_p.D174D|ERG_ENST00000453032.2_Silent_p.D82D|ERG_ENST00000398897.1_Silent_p.D82D|ERG_ENST00000288319.7_Silent_p.D174D|ERG_ENST00000398911.1_Silent_p.D181D|ERG_ENST00000442448.1_Silent_p.D181D|ERG_ENST00000429727.2_Intron|ERG_ENST00000398910.1_Silent_p.D181D|ERG_ENST00000398907.1_Silent_p.D174D	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0			R -> Q (in dbSNP:rs41308954).		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TCTGGAAGTCGTCCTTGGTCA	0.522			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(541-543)gaC>gaT		v-ets avian erythroblastosis virus E26 oncogene homolog		G	,,,	0,4406		0,0,2203	199.0	173.0	182.0		543,246,543,522	-5.0	0.9	21		182	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ERG	NM_001136154.1,NM_001136155.1,NM_004449.4,NM_182918.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	181/487,82/388,181/463,174/480	39775498	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39775498G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.543C>T	21.37:g.39775498G>A						ERG_ENST00000417133.2_Silent_p.D181D|ERG_ENST00000398897.1_Silent_p.D82D|ERG_ENST00000398919.2_Silent_p.D181D|ERG_ENST00000453032.2_Silent_p.D82D|ERG_ENST00000288319.7_Silent_p.D174D|ERG_ENST00000398905.1_Silent_p.D174D|ERG_ENST00000429727.2_Intron|ERG_ENST00000398907.1_Silent_p.D174D|ERG_ENST00000398910.1_Silent_p.D181D|ERG_ENST00000398911.1_Silent_p.D181D	p.D181D	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			6	814	-		Prostate(19;3.6e-06)	181			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.543C>T	CCDS46648.1																																																																																				0.522	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		31	52	0	0	0	1	0	31	52				
CATSPERB	79820	broad.mit.edu	37	14	92174488	92174488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92174488G>A	ENST00000256343.3	-	6	619	c.463C>T	c.(463-465)Cga>Tga	p.R155*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	155					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.R155*(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CATTTACCTCGAATAACATCC	0.353																																						ENST00000256343.3																			2	Substitution - Nonsense(2)	p.R155*(2)	ovary(1)|large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(463-465)Cga>Tga		catsper channel auxiliary subunit beta							132.0	124.0	127.0					14																	92174488		2201	4297	6498	SO:0001587	stop_gained	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92174488G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.463C>T	14.37:g.92174488G>A	ENSP00000256343:p.Arg155*						p.R155*	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			6	619	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	155					A0AV51	Nonsense_Mutation	SNP	ENST00000256343.3	37	c.463C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598942	0.87055	.	.	ENSG00000133962	ENST00000256343;ENST00000553329	.	.	.	5.11	3.17	0.36434	.	0.000000	0.37809	N	0.001933	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4392	0.50086	0.0:0.0:0.5479:0.4521	.	.	.	.	X	155;108	.	ENSP00000256343:R155X	R	-	1	2	CATSPERB	91244241	0.874000	0.30092	0.849000	0.33467	0.315000	0.28087	1.033000	0.30191	1.120000	0.41904	0.467000	0.42956	CGA		0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		4	37	0	0	0	1	0	4	37				
LAS1L	81887	broad.mit.edu	37	X	64751318	64751318	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64751318C>T	ENST00000374811.3	-	4	473	c.433G>A	c.(433-435)Gta>Ata	p.V145I	LAS1L_ENST00000374804.5_Splice_Site_p.V103I|LAS1L_ENST00000312391.8_Splice_Site_p.V145I|LAS1L_ENST00000374807.5_Splice_Site_p.V145I	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	145					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GGAATATTTACCTGATTACAG	0.443																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.e4-1		LAS1-like (S. cerevisiae)							121.0	112.0	115.0					X																	64751318		2203	4300	6503	SO:0001630	splice_region_variant	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64751318C>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.433-1G>A	X.37:g.64751318C>T						LAS1L_ENST00000374807.5_Splice_Site_p.V145_splice|LAS1L_ENST00000374804.5_Splice_Site_p.V103_splice|LAS1L_ENST00000312391.8_Splice_Site_p.V145_splice	p.V145_splice	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN			4	473	-			145					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Splice_Site	SNP	ENST00000374811.3	37	c.432_splice	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127899	0.56721	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.42	2.29	0.28610	.	0.310095	0.33309	N	0.005056	T	0.17323	0.0416	N	0.04387	-0.21	0.34874	D	0.743855	B;P;B	0.43578	0.093;0.811;0.095	B;P;B	0.44623	0.026;0.455;0.102	T	0.19484	-1.0304	9	0.09338	T	0.73	.	2.7778	0.05352	0.2266:0.524:0.0:0.2494	.	103;145;145	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	I	145;145;103;145	.	ENSP00000308649:V145I	V	-	1	0	LAS1L	64668043	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	0.505000	0.22642	1.051000	0.40369	0.600000	0.82982	GTA		0.443	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206	Missense_Mutation	9	96	0	0	0	1	0	9	96				
TTLL7	79739	broad.mit.edu	37	1	84403608	84403608	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:84403608C>T	ENST00000260505.8	-	8	1192	c.815G>A	c.(814-816)cGt>cAt	p.R272H	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	272	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTTGATGGAACGTTTGCTGCC	0.368																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(814-816)cGt>cAt		tubulin tyrosine ligase-like family, member 7							288.0	255.0	266.0					1																	84403608		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84403608C>T	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.815G>A	1.37:g.84403608C>T	ENSP00000260505:p.Arg272His					TTLL7_ENST00000477524.1_5'UTR	p.R272H	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	8	1192	-			272			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.815G>A	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	34	5.361805	0.95877	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.05717	3.4	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01781	-1.1275	10	0.62326	D	0.03	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	272	Q6ZT98	TTLL7_HUMAN	H	272	ENSP00000260505:R272H	ENSP00000260505:R272H	R	-	2	0	TTLL7	84176196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.447000	0.80620	2.761000	0.94854	0.655000	0.94253	CGT		0.368	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		8	86	0	0	0	1	0	8	86				
ZNF420	147923	broad.mit.edu	37	19	37581896	37581896	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37581896G>T	ENST00000337995.3	+	4	224		c.e4-1		ZNF420_ENST00000304239.7_Splice_Site|CTD-2293H3.1_ENST00000588369.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTTGTTTCAGAAATTAGTGA	0.353																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.e4-1		zinc finger protein 420							75.0	74.0	74.0					19																	37581896		2203	4300	6503	SO:0001630	splice_region_variant	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37581896G>T	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.10-1G>T	19.37:g.37581896G>T						ZNF420_ENST00000304239.7_Splice_Site		NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	224	+								B2RDY6|Q96ML5	Splice_Site	SNP	ENST00000337995.3	37		CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	8.800	0.932734	0.18131	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	4.46	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.30939	N	0.726039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4156	0.32670	0.1069:0.0:0.8931:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF420	42273736	0.983000	0.35010	0.274000	0.24659	0.460000	0.32559	4.566000	0.60843	1.110000	0.41699	0.591000	0.81541	.		0.353	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	Intron	20	34	1	0	2.39187e-15	1	3.14903e-15	20	34				
HIRIP3	8479	broad.mit.edu	37	16	30002147	30002147	+	IGR	SNP	C	C	T	rs376168411		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30002147C>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.R830W	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCAGGCCCTTCGGCAGCAGCT	0.602																																						ENST00000279394.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2488-2490)Cgg>Tgg		TAO kinase 2		C	TRP/ARG	0,4392		0,0,2196	48.0	54.0	52.0		2488	4.4	1.0	16		52	1,8599		0,1,4299	no	missense	TAOK2	NM_004783.2	101	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		830/1050	30002147	1,12991	2196	4300	6496	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30002147C>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002147C>T							p.R830W	NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN			18	2891	+			709			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.2488C>T	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189172	0.57909	0.0	1.16E-4	ENSG00000149930	ENST00000279394	T	0.71461	-0.57	5.39	4.42	0.53409	.	.	.	.	.	T	0.81307	0.4795	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.82321	-0.0515	8	.	.	.	.	14.2063	0.65737	0.151:0.849:0.0:0.0	.	830	Q9UL54-2	.	W	830	ENSP00000279394:R830W	.	R	+	1	2	TAOK2	29909648	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.586000	0.36611	1.232000	0.43678	0.563000	0.77884	CGG		0.602	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		50	79	0	0	0	1	0	50	79				
MATN1	4146	broad.mit.edu	37	1	31194488	31194488	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31194488C>T	ENST00000373765.4	-	2	240	c.205G>A	c.(205-207)Gag>Aag	p.E69K	MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	69	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGCGACTCGATGACCTGG	0.602																																						ENST00000373765.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(205-207)Gag>Aag		matrilin 1, cartilage matrix protein							74.0	79.0	77.0					1																	31194488		2203	4300	6503	SO:0001583	missense	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31194488C>T	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.205G>A	1.37:g.31194488C>T	ENSP00000362870:p.Glu69Lys					MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	p.E69K	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	2	240	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	69			VWFA 1.		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	c.205G>A	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678630	0.47886	.	.	ENSG00000162510	ENST00000373765	T	0.78126	-1.15	4.62	2.71	0.32032	von Willebrand factor, type A (3);	.	.	.	.	T	0.65595	0.2706	L	0.33710	1.025	0.51767	D	0.999933	B	0.16166	0.016	B	0.18561	0.022	T	0.54879	-0.8227	9	0.22706	T	0.39	-27.6442	11.457	0.50187	0.0:0.8496:0.0:0.1504	.	69	P21941	MATN1_HUMAN	K	69	ENSP00000362870:E69K	ENSP00000362870:E69K	E	-	1	0	MATN1	30967075	0.998000	0.40836	0.979000	0.43373	0.545000	0.35147	3.346000	0.52190	0.477000	0.27464	-0.221000	0.12465	GAG		0.602	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		47	102	0	0	0	1	0	47	102				
SEMA3E	9723	broad.mit.edu	37	7	83014659	83014659	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83014659G>A	ENST00000307792.3	-	16	2293	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	609	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAACTTTCGCTTGTAAAGA	0.398																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1825-1827)gCg>gTg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							196.0	180.0	185.0					7																	83014659		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83014659G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1826C>T	7.37:g.83014659G>A	ENSP00000303212:p.Ala609Val					SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549V	p.A609V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			16	2293	-		Medulloblastoma(109;0.109)	609			Ig-like C2-type.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1826C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430525	0.96150	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.19394	2.15;2.15	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	T	0.49854	-0.8895	10	0.59425	D	0.04	.	19.4854	0.95027	0.0:0.0:1.0:0.0	.	609	O15041	SEM3E_HUMAN	V	609;549;609	ENSP00000303212:A609V;ENSP00000405052:A549V	ENSP00000303212:A609V	A	-	2	0	SEMA3E	82852595	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.255000	0.95524	2.597000	0.87782	0.650000	0.86243	GCG		0.398	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		39	59	0	0	0	1	0	39	59				
MAP3K15	389840	broad.mit.edu	37	X	19379463	19379463	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19379463C>T	ENST00000338883.4	-	28	3850	c.3851G>A	c.(3850-3852)cGa>cAa	p.R1284Q	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R719Q|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R1116Q|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000545074.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1284							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTACCGTAGTCGAAGGTATCT	0.393																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3850-3852)cGa>cAa		mitogen-activated protein kinase kinase kinase 15							54.0	46.0	49.0					X																	19379463		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19379463C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3851G>A	X.37:g.19379463C>T	ENSP00000345629:p.Arg1284Gln					PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R1116Q|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R719Q|PDHA1_ENST00000540249.1_3'UTR	p.R1284Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			28	3850	-	Hepatocellular(33;0.183)		1284					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.3851G>A		.	.	.	.	.	.	.	.	.	.	C	10.50	1.368766	0.24771	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	D;D;D	0.88277	-2.36;-2.36;-2.36	5.91	0.0793	0.14415	Sterile alpha motif/pointed domain (1);	0.293705	0.24134	U	0.041229	T	0.81522	0.4840	L	0.55103	1.725	0.09310	N	0.999998	P;B	0.34892	0.474;0.074	B;B	0.30105	0.111;0.008	T	0.68135	-0.5489	10	0.33141	T	0.24	.	6.9936	0.24769	0.0:0.4721:0.109:0.4189	.	759;1284	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	Q	1284;719;1116	ENSP00000345629:R1284Q;ENSP00000352093:R719Q;ENSP00000428356:R1116Q	ENSP00000345629:R1284Q	R	-	2	0	MAP3K15	19289384	0.000000	0.05858	0.000000	0.03702	0.577000	0.36160	-0.040000	0.12104	-0.480000	0.06803	-0.192000	0.12808	CGA		0.393	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		10	22	0	0	0	1	0	10	22				
INTU	27152	broad.mit.edu	37	4	128605632	128605632	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:128605632C>A	ENST00000335251.6	+	7	1353	c.1250C>A	c.(1249-1251)tCt>tAt	p.S417Y		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	417					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATGTATGGTTCTTTAGATAGG	0.303																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1249-1251)tCt>tAt		inturned planar cell polarity protein							82.0	81.0	81.0					4																	128605632		2203	4298	6501	SO:0001583	missense	27152							g.chr4:128605632C>A	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1250C>A	4.37:g.128605632C>A	ENSP00000334003:p.Ser417Tyr						p.S417Y	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			7	1353	+			417					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1250C>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018166	0.54576	.	.	ENSG00000164066	ENST00000335251	T	0.34275	1.37	4.48	4.48	0.54585	.	0.060472	0.64402	D	0.000002	T	0.60932	0.2307	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.67237	-0.5721	10	0.87932	D	0	-16.0616	17.3652	0.87362	0.0:1.0:0.0:0.0	.	417	Q9ULD6	PDZD6_HUMAN	Y	417	ENSP00000334003:S417Y	ENSP00000334003:S417Y	S	+	2	0	INTU	128825082	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.998000	0.57024	2.304000	0.77564	0.591000	0.81541	TCT		0.303	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		8	10	1	0	5.4927e-09	1	6.54492e-09	8	10				
SCEL	8796	broad.mit.edu	37	13	78130826	78130826	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78130826A>C	ENST00000349847.3	+	3	223	c.139A>C	c.(139-141)Aag>Cag	p.K47Q	SCEL_ENST00000377246.3_Missense_Mutation_p.K47Q|SCEL_ENST00000535157.1_Missense_Mutation_p.K47Q	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	47					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAGTTGGATAAAGAAACGCCC	0.468																																						ENST00000535157.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.(139-141)Aag>Cag		sciellin							102.0	109.0	107.0					13																	78130826		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78130826A>C	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.139A>C	13.37:g.78130826A>C	ENSP00000302579:p.Lys47Gln					SCEL_ENST00000377246.3_Missense_Mutation_p.K47Q|SCEL_ENST00000349847.3_Missense_Mutation_p.K47Q	p.K47Q	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	3	309	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	47					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.139A>C	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292788	0.80914	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.21734	1.99;1.99;1.99	5.3	5.3	0.74995	.	0.111307	0.40469	N	0.001085	T	0.46249	0.1383	M	0.74258	2.255	0.41287	D	0.986958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.49184	-0.8966	10	0.72032	D	0.01	-19.6859	13.0641	0.59024	1.0:0.0:0.0:0.0	.	47;47;47	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	Q	47	ENSP00000437895:K47Q;ENSP00000366454:K47Q;ENSP00000302579:K47Q	ENSP00000315127:K47Q	K	+	1	0	SCEL	77028827	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.119000	0.64679	2.125000	0.65367	0.460000	0.39030	AAG		0.468	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		16	126	0	0	0	1	0	16	126				
NEFL	4747	broad.mit.edu	37	8	24813109	24813109	+	RNA	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:24813109C>T	ENST00000221169.5	-	0	1515				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GACGACGGCTCTCGGACACCT	0.622																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide							52.0	56.0	55.0					8																	24813109		2074	4194	6268			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813109C>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813109C>T										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1515	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.622	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		21	34	0	0	0	1	0	21	34				
RAB34	83871	broad.mit.edu	37	17	27041840	27041840	+	Missense_Mutation	SNP	G	G	A	rs376343488	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27041840G>A	ENST00000395245.3	-	9	1309	c.683C>T	c.(682-684)tCg>tTg	p.S228L	RAB34_ENST00000436730.3_Missense_Mutation_p.S228L|RAB34_ENST00000450529.1_Missense_Mutation_p.S220L|RAB34_ENST00000447716.1_Missense_Mutation_p.S285L|RAB34_ENST00000395242.2_Missense_Mutation_p.S229L|PROCA1_ENST00000301039.2_5'Flank|RAB34_ENST00000415040.2_Missense_Mutation_p.S206L|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000301043.6_Missense_Mutation_p.S228L|RAB34_ENST00000395243.3_Missense_Mutation_p.S220L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	228					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCGAGCCCCCGATTTCTCCAG	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		20786	0.0		0.0	False		,,,				2504	0.002				Pancreas(175;216 2049 29940 32498 41589)	ENST00000395245.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14						c.(682-684)tCg>tTg		RAB34, member RAS oncogene family		G	,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	76.0	65.0	69.0		,683,854,659,830	4.6	1.0	17		69	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense,missense	RAB34	NM_001142625.2,NM_031934.5,NM_001144943.1,NM_001144942.1,NM_001142624.2	,145,145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign,benign,benign	,228/260,285/317,220/252,277/309	27041840	1,13005	2203	4300	6503	SO:0001583	missense	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27041840G>A	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.683C>T	17.37:g.27041840G>A	ENSP00000378666:p.Ser228Leu					RAB34_ENST00000301043.6_Missense_Mutation_p.S228L|RAB34_ENST00000395242.2_Missense_Mutation_p.S229L|RAB34_ENST00000450529.1_Missense_Mutation_p.S220L|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000436730.3_Missense_Mutation_p.S228L|RAB34_ENST00000395243.3_Missense_Mutation_p.S220L|RAB34_ENST00000447716.1_Missense_Mutation_p.S285L|RAB34_ENST00000415040.2_Missense_Mutation_p.S206L	p.S228L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN			9	1309	-	Lung NSC(42;0.00431)		228					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	c.683C>T	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193420	0.38707	0.0	1.16E-4	ENSG00000109113	ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132	T;T;T;T;T;T;T;T	0.71341	-0.15;-0.12;-0.56;0.2;-0.52;-0.12;-0.12;-0.08	5.62	4.59	0.56863	.	0.159590	0.53938	D	0.000060	T	0.50411	0.1614	L	0.27053	0.805	0.37782	D	0.927067	B;B;P;B;B;B	0.41131	0.384;0.011;0.739;0.007;0.006;0.384	B;B;B;B;B;B	0.25614	0.038;0.005;0.062;0.007;0.004;0.038	T	0.63180	-0.6695	9	0.24483	T	0.36	-3.4941	14.7611	0.69607	0.0:0.1452:0.8548:0.0	.	206;220;251;243;229;228	E9PEJ9;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1	.;.;.;.;.;RAB34_HUMAN	L	285;228;220;206;243;229;228;251;229	ENSP00000410403:S285L;ENSP00000301043:S228L;ENSP00000378664:S220L;ENSP00000410279:S206L;ENSP00000391048:S243L;ENSP00000378663:S229L;ENSP00000378666:S228L;ENSP00000404180:S251L	ENSP00000301043:S228L	S	-	2	0	RAB34	24065967	0.999000	0.42202	0.974000	0.42286	0.983000	0.72400	4.623000	0.61247	2.642000	0.89623	0.563000	0.77884	TCG		0.547	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		25	58	0	0	0	1	0	25	58				
ABCC1	4363	broad.mit.edu	37	16	16108405	16108405	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:16108405A>G	ENST00000399410.3	+	4	584	c.409A>G	c.(409-411)Atc>Gtc	p.I137V	ABCC1_ENST00000345148.5_Missense_Mutation_p.I137V|ABCC1_ENST00000399408.2_Missense_Mutation_p.I137V|ABCC1_ENST00000346370.5_Missense_Mutation_p.I137V|ABCC1_ENST00000351154.5_Missense_Mutation_p.I137V|ABCC1_ENST00000349029.5_Missense_Mutation_p.I137V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	137					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GTCTTCAGGGATCATGCTCAC	0.473																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(409-411)Atc>Gtc		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						139.0	136.0	137.0					16																	16108405		1985	4175	6160	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16108405A>G	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.409A>G	16.37:g.16108405A>G	ENSP00000382342:p.Ile137Val					ABCC1_ENST00000346370.5_Missense_Mutation_p.I137V|ABCC1_ENST00000399410.3_Missense_Mutation_p.I137V|ABCC1_ENST00000351154.5_Missense_Mutation_p.I137V|ABCC1_ENST00000349029.5_Missense_Mutation_p.I137V|ABCC1_ENST00000345148.5_Missense_Mutation_p.I137V	p.I137V			P33527	MRP1_HUMAN			4	584	+			137					A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.409A>G	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	A	1.908	-0.451374	0.04572	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	5.43	3.1	0.35709	.	0.314743	0.33834	N	0.004512	T	0.09730	0.0239	N	0.01535	-0.81	0.29926	N	0.822322	B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.12837	0.003;0.003;0.008;0.003;0.002;0.005	T	0.32241	-0.9914	10	0.02654	T	1	-25.2393	4.6116	0.12406	0.5715:0.0:0.4285:0.0	.	137;137;137;137;137;137	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	V	137	ENSP00000382342:I137V;ENSP00000382340:I137V;ENSP00000263019:I137V;ENSP00000263017:I137V;ENSP00000263014:I137V;ENSP00000263016:I137V	ENSP00000263014:I137V	I	+	1	0	ABCC1	16015906	0.085000	0.21516	0.999000	0.59377	0.914000	0.54420	0.380000	0.20602	0.886000	0.36113	-0.304000	0.09214	ATC		0.473	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		15	35	0	0	0	1	0	15	35				
FBXW7	55294	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		6	Substitution - Nonsense(5)|Unknown(1)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1972-1974)Cga>Tga		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167.0	164.0	165.0					4																	153244185		2203	4300	6503	SO:0001587	stop_gained	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244185G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1972C>T	4.37:g.153244185G>A	ENSP00000281708:p.Arg658*					FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*	p.R658*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			12	3201	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	658					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1972C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698056	0.88830	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7715	15.907	0.79439	0.0:0.0:0.8635:0.1365	.	.	.	.	X	658;540;578;482	.	ENSP00000263981:R578X	R	-	1	2	FBXW7	153463635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.632000	0.74281	1.377000	0.46286	0.655000	0.94253	CGA		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			54	88	0	0	0	1	0	54	88				
CD200R1	131450	broad.mit.edu	37	3	112693688	112693688	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112693688C>A	ENST00000471858.1	-	1	249	c.17G>T	c.(16-18)aGa>aTa	p.R6I	CD200R1_ENST00000308611.3_Missense_Mutation_p.R6I|CD200R1_ENST00000295863.4_Missense_Mutation_p.R6I|CD200R1_ENST00000440122.2_Missense_Mutation_p.R6I|CD200R1_ENST00000490004.1_Missense_Mutation_p.R6I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	6					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.R6I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTAGCAGTTCTCCAAGGGCA	0.468																																						ENST00000471858.1																			1	Substitution - Missense(1)	p.R6I(1)	large_intestine(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(16-18)aGa>aTa		CD200 receptor 1							213.0	183.0	193.0					3																	112693688		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112693688C>A	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.17G>T	3.37:g.112693688C>A	ENSP00000418928:p.Arg6Ile					CD200R1_ENST00000308611.3_Missense_Mutation_p.R6I|CD200R1_ENST00000490004.1_Missense_Mutation_p.R6I|CD200R1_ENST00000440122.2_Missense_Mutation_p.R6I|CD200R1_ENST00000295863.4_Missense_Mutation_p.R6I	p.R6I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			1	249	-			6					B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.17G>T	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467398	0.63625	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.27557	2.17;2.26;1.92;1.66;1.72	5.66	3.46	0.39613	.	0.626729	0.13915	N	0.353946	T	0.23572	0.0570	L	0.41824	1.3	0.32706	N	0.512178	B;P;P;B;B	0.44380	0.121;0.713;0.834;0.261;0.379	B;B;B;B;B	0.41666	0.021;0.234;0.363;0.052;0.111	T	0.34104	-0.9842	10	0.51188	T	0.08	.	4.397	0.11367	0.2371:0.6287:0.0:0.1342	.	6;6;6;6;6	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	I	6	ENSP00000418928:R6I;ENSP00000311035:R6I;ENSP00000295863:R6I;ENSP00000405733:R6I;ENSP00000418801:R6I	ENSP00000295863:R6I	R	-	2	0	CD200R1	114176378	0.939000	0.31865	0.930000	0.37139	0.998000	0.95712	1.543000	0.36147	1.501000	0.48654	0.655000	0.94253	AGA		0.468	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		16	25	1	0	1.33834e-09	1	1.61283e-09	16	25				
RALGAPA1	253959	broad.mit.edu	37	14	36133883	36133883	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36133883G>A	ENST00000389698.3	-	26	4165	c.3775C>T	c.(3775-3777)Cct>Tct	p.P1259S	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1259S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1272S|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.P1306S	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1259					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAACATCAGGAATGTTGGGA	0.348																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3916-3918)Cct>Tct		Ral GTPase activating protein, alpha subunit 1 (catalytic)							64.0	62.0	63.0					14																	36133883		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36133883G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3775C>T	14.37:g.36133883G>A	ENSP00000374348:p.Pro1259Ser					RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1259S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1272S|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1259S	p.P1306S			Q6GYQ0	RGPA1_HUMAN			27	4306	-			1259					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.3916C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937456	0.34189	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.83	5.83	0.93111	.	0.154301	0.64402	D	0.000014	T	0.35682	0.0940	N	0.02916	-0.46	0.38419	D	0.946147	B;B;B;B	0.20780	0.048;0.001;0.007;0.001	B;B;B;B	0.14023	0.01;0.002;0.007;0.002	T	0.38436	-0.9661	10	0.14656	T	0.56	-16.9146	13.342	0.60551	0.072:0.0:0.928:0.0	.	1306;1272;1259;1259	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	S	1259;1259;1259;1306;1272;1306	ENSP00000374348:P1259S;ENSP00000302647:P1259S;ENSP00000258840:P1306S;ENSP00000371803:P1272S;ENSP00000451877:P1306S	ENSP00000258840:P1306S	P	-	1	0	RALGAPA1	35203634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.273000	0.51623	2.764000	0.94973	0.557000	0.71058	CCT		0.348	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		10	23	0	0	0	1	0	10	23				
DHX9	1660	broad.mit.edu	37	1	182848417	182848417	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:182848417G>A	ENST00000367549.3	+	21	2494	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	795	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAGATGTTCCGAACACCATTG	0.398																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(2383-2385)cGa>cAa		DEAH (Asp-Glu-Ala-His) box helicase 9							178.0	161.0	166.0					1																	182848417		1878	4117	5995	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182848417G>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2384G>A	1.37:g.182848417G>A	ENSP00000356520:p.Arg795Gln					DHX9_ENST00000485081.1_3'UTR	p.R795Q	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			21	2494	+			795			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.2384G>A	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	36	5.602521	0.96614	.	.	ENSG00000135829	ENST00000367549	T	0.02236	4.38	5.64	5.64	0.86602	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.00770	-1.1573	10	0.87932	D	0	.	19.691	0.96000	0.0:0.0:1.0:0.0	.	74;795	B3KU66;Q08211	.;DHX9_HUMAN	Q	795	ENSP00000356520:R795Q	ENSP00000356520:R795Q	R	+	2	0	DHX9	181115040	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.154000	0.94694	2.671000	0.90904	0.585000	0.79938	CGA		0.398	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		22	65	0	0	0	1	0	22	65				
ZAN	7455	broad.mit.edu	37	7	100366245	100366245	+	RNA	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100366245A>G	ENST00000348028.3	+	0	5219				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACTACAACAACAACAGCTTG	0.592																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							32.0	31.0	31.0					7																	100366245		1881	4113	5994			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100366245A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100366245A>G						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5202	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	A	15.23	2.770966	0.49680	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	4.77	2.44	0.29823	von Willebrand factor, type D domain (3);	0.000000	0.49916	D	0.000127	T	0.50939	0.1645	L	0.35854	1.095	0.22001	N	0.999422	P;P	0.47034	0.865;0.889	P;P	0.50896	0.521;0.653	T	0.36114	-0.9761	10	0.46703	T	0.11	.	5.6478	0.17598	0.7864:0.0:0.2136:0.0	.	1685;1685	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	1685;1685;1685;262	ENSP00000445943:N1685S;ENSP00000445091:N1685S;ENSP00000444427:N1685S;ENSP00000441117:N262S	ENSP00000423579:N1685S	N	+	2	0	ZAN	100204181	0.773000	0.28580	1.000000	0.80357	0.919000	0.55068	1.447000	0.35101	0.922000	0.37019	0.533000	0.62120	AAC		0.592	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		8	14	0	0	0	1	0	8	14				
ALX1	8092	broad.mit.edu	37	12	85677427	85677427	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85677427C>T	ENST00000316824.3	+	2	459	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	102					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTGTAACAGTCTCCGAATGTC	0.468																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(304-306)Ctc>Ttc		ALX homeobox 1							112.0	105.0	107.0					12																	85677427		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677427C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.304C>T	12.37:g.85677427C>T	ENSP00000315417:p.Leu102Phe						p.L102F	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	459	+			102					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.304C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364407	0.82463	.	.	ENSG00000180318	ENST00000316824	D	0.92805	-3.11	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	N	0.24115	0.695	0.58432	D	0.999999	D	0.52996	0.957	P	0.49276	0.605	D	0.91005	0.4845	10	0.56958	D	0.05	.	20.0205	0.97499	0.0:1.0:0.0:0.0	.	102	Q15699	ALX1_HUMAN	F	102	ENSP00000315417:L102F	ENSP00000315417:L102F	L	+	1	0	ALX1	84201558	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.225000	0.78051	2.801000	0.96364	0.650000	0.86243	CTC		0.468	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		30	59	0	0	0	1	0	30	59				
POSTN	10631	broad.mit.edu	37	13	38160307	38160307	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38160307T>G	ENST00000379747.4	-	7	981	c.864A>C	c.(862-864)gaA>gaC	p.E288D	POSTN_ENST00000541179.1_Missense_Mutation_p.E288D|POSTN_ENST00000541481.1_Missense_Mutation_p.E288D|POSTN_ENST00000379742.4_Missense_Mutation_p.E288D|POSTN_ENST00000379743.4_Missense_Mutation_p.E288D|POSTN_ENST00000379749.4_Missense_Mutation_p.E288D	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	288	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCATGATCCTTTCTAGGACAC	0.468																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(862-864)gaA>gaC		periostin, osteoblast specific factor							103.0	99.0	100.0					13																	38160307		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160307T>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.864A>C	13.37:g.38160307T>G	ENSP00000369071:p.Glu288Asp					POSTN_ENST00000541481.1_Missense_Mutation_p.E288D|POSTN_ENST00000541179.1_Missense_Mutation_p.E288D|POSTN_ENST00000379743.4_Missense_Mutation_p.E288D|POSTN_ENST00000379749.4_Missense_Mutation_p.E288D|POSTN_ENST00000379742.4_Missense_Mutation_p.E288D	p.E288D	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	7	981	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	288			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.864A>C	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816191	0.50527	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.81	1.95	0.26073	FAS1 domain (5);	0.185554	0.56097	N	0.000022	D	0.85539	0.5720	N	0.25094	0.71	0.38552	D	0.949487	P;P;B;D;D;B;B	0.57257	0.941;0.934;0.18;0.958;0.979;0.019;0.18	P;P;B;P;P;B;B	0.56474	0.785;0.679;0.174;0.799;0.679;0.03;0.174	T	0.79514	-0.1772	10	0.13108	T	0.6	-24.64	5.2345	0.15439	0.0:0.2044:0.2603:0.5354	.	288;288;288;288;288;288;288	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	D	288;288;288;288;288;288;205	ENSP00000437959:E288D;ENSP00000369073:E288D;ENSP00000369071:E288D;ENSP00000369067:E288D;ENSP00000369066:E288D;ENSP00000437953:E288D	ENSP00000369066:E288D	E	-	3	2	POSTN	37058307	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	0.616000	0.24344	0.107000	0.17824	-0.316000	0.08728	GAA		0.468	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		30	31	0	0	0	1	0	30	31				
FOXF1	2294	broad.mit.edu	37	16	86544588	86544588	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:86544588G>A	ENST00000262426.4	+	1	456	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	138					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GGCTCCTTTCGGCGGCGGCCG	0.647																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(412-414)cGg>cAg		forkhead box F1							52.0	66.0	61.0					16																	86544588		2197	4299	6496	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544588G>A	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.413G>A	16.37:g.86544588G>A	ENSP00000262426:p.Arg138Gln						p.R138Q	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	456	+			138					B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.413G>A	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567332	0.86439	.	.	ENSG00000103241	ENST00000262426	T	0.39056	1.1	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72478	-0.4281	10	0.62326	D	0.03	.	16.1868	0.81960	0.0:0.0:1.0:0.0	.	138	Q12946	FOXF1_HUMAN	Q	138	ENSP00000262426:R138Q	ENSP00000262426:R138Q	R	+	2	0	FOXF1	85102089	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	7.536000	0.82023	2.052000	0.61016	0.650000	0.86243	CGG		0.647	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		63	117	0	0	0	1	0	63	117				
KIAA1549	57670	broad.mit.edu	37	7	138601497	138601497	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138601497T>G	ENST00000422774.1	-	2	2923	c.2875A>C	c.(2875-2877)Act>Cct	p.T959P	KIAA1549_ENST00000440172.1_Missense_Mutation_p.T959P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.T909P			Q9HCM3	K1549_HUMAN	KIAA1549	959						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCCTTACCAGTTGTGATCAGA	0.537			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(2875-2877)Act>Cct		KIAA1549							50.0	49.0	49.0					7																	138601497		2017	4176	6193	SO:0001583	missense	57670					integral to membrane		g.chr7:138601497T>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2875A>C	7.37:g.138601497T>G	ENSP00000416040:p.Thr959Pro					KIAA1549_ENST00000242365.4_Missense_Mutation_p.T909P|KIAA1549_ENST00000422774.1_Missense_Mutation_p.T959P	p.T959P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	2923	-			959					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.2875A>C	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022648	0.54683	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.26660	1.72;1.73;1.73	4.37	2.72	0.32119	.	0.167773	0.39475	N	0.001359	T	0.16428	0.0395	L	0.29908	0.895	0.31734	N	0.63665	B;B	0.31227	0.314;0.27	B;B	0.32805	0.098;0.153	T	0.12863	-1.0531	10	0.87932	D	0	.	4.3715	0.11249	0.0:0.3874:0.0:0.6126	.	959;959	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	P	959;909;959	ENSP00000406661:T959P;ENSP00000242365:T909P;ENSP00000416040:T959P	ENSP00000242365:T909P	T	-	1	0	KIAA1549	138252037	1.000000	0.71417	0.983000	0.44433	0.966000	0.64601	2.971000	0.49248	0.845000	0.35118	0.459000	0.35465	ACT		0.537	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			8	26	0	0	0	1	0	8	26				
NLRP12	91662	broad.mit.edu	37	19	54327368	54327368	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54327368C>T	ENST00000324134.6	-	1	229	c.61G>A	c.(61-63)Gag>Aag	p.E21K	NLRP12_ENST00000391772.1_Missense_Mutation_p.E21K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E21K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E21K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E21K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E21K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E21K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E21K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	21	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCACAGCCTCGAGTTCTTCC	0.612																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(61-63)Gag>Aag		NLR family, pyrin domain containing 12							55.0	53.0	54.0					19																	54327368		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327368C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.61G>A	19.37:g.54327368C>T	ENSP00000319377:p.Glu21Lys					NLRP12_ENST00000354278.3_Missense_Mutation_p.E21K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E21K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E21K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E21K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E21K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E21K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E21K	p.E21K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	229	-	Ovarian(34;0.19)		21			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.61G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640040	0.29157	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.48	3.35	0.38373	Pyrin (2);DEATH-like (2);	0.168162	0.28109	N	0.016571	T	0.53318	0.1789	L	0.47190	1.495	0.21256	N	0.999744	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.61477	0.889;0.889;0.889;0.889	T	0.35450	-0.9788	10	0.35671	T	0.21	.	9.891	0.41290	0.0:0.7915:0.2085:0.0	.	21;21;21;21	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	21	ENSP00000319377:E21K;ENSP00000438030:E21K;ENSP00000340473:E21K;ENSP00000346231:E21K;ENSP00000375655:E21K;ENSP00000375653:E21K;ENSP00000375652:E21K	ENSP00000319377:E21K	E	-	1	0	NLRP12	59019180	0.600000	0.26899	0.587000	0.28692	0.209000	0.24338	1.432000	0.34936	2.224000	0.72417	0.305000	0.20034	GAG		0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		31	40	0	0	0	1	0	31	40				
CLEC4D	338339	broad.mit.edu	37	12	8667888	8667888	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8667888T>G	ENST00000299665.2	+	2	278	c.85T>G	c.(85-87)Tta>Gta	p.L29V		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	29					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGTTTTCATCTTACTTCTCAG	0.373																																						ENST00000299665.2																			0				large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(85-87)Tta>Gta		C-type lectin domain family 4, member D							244.0	206.0	219.0					12																	8667888		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8667888T>G	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.85T>G	12.37:g.8667888T>G	ENSP00000299665:p.Leu29Val						p.L29V	NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN			2	278	+	Lung SC(5;0.184)		29					Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.85T>G	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.296658	0.01364	.	.	ENSG00000166527	ENST00000382064;ENST00000299665	T;T	0.05786	3.39;3.71	3.36	0.923	0.19413	.	.	.	.	.	T	0.06050	0.0157	L	0.50333	1.59	0.09310	N	1	B	0.16166	0.016	B	0.14023	0.01	T	0.39231	-0.9624	9	0.34782	T	0.22	.	3.626	0.08113	0.0:0.1233:0.2274:0.6494	.	29	Q8WXI8	CLC4D_HUMAN	V	29	ENSP00000371496:L29V;ENSP00000299665:L29V	ENSP00000299665:L29V	L	+	1	2	CLEC4D	8559155	0.001000	0.12720	0.014000	0.15608	0.002000	0.02628	-0.211000	0.09332	0.174000	0.19809	-0.517000	0.04412	TTA		0.373	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		4	58	0	0	0	1	0	4	58				
OR5B3	441608	broad.mit.edu	37	11	58170438	58170438	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58170438A>C	ENST00000309403.2	-	1	444	c.445T>G	c.(445-447)Tgt>Ggt	p.C149G		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGAAACCACAGAGGTAGGAG	0.478																																						ENST00000309403.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(445-447)Tgt>Ggt		olfactory receptor, family 5, subfamily B, member 3							114.0	104.0	107.0					11																	58170438		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170438A>C	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.445T>G	11.37:g.58170438A>C	ENSP00000308270:p.Cys149Gly						p.C149G	NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN			1	444	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	149					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.445T>G	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	4.120	0.020471	0.08006	.	.	ENSG00000172769	ENST00000309403	T	0.36157	1.27	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.700151	0.13039	N	0.418663	T	0.16938	0.0407	N	0.11201	0.11	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.17410	-1.0370	10	0.19590	T	0.45	-2.0378	4.6074	0.12385	0.6136:0.1965:0.0:0.1899	.	149	Q8NH48	OR5B3_HUMAN	G	149	ENSP00000308270:C149G	ENSP00000308270:C149G	C	-	1	0	OR5B3	57927014	0.000000	0.05858	0.604000	0.28916	0.665000	0.39181	-1.915000	0.01578	1.703000	0.51240	0.477000	0.44152	TGT		0.478	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		41	72	0	0	0	1	0	41	72				
BNIP3L	665	broad.mit.edu	37	8	26238477	26238477	+	5'Flank	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:26238477T>G	ENST00000380629.2	+	0	0				SDAD1P1_ENST00000519902.1_RNA|BNIP3L_ENST00000520409.1_5'Flank|BNIP3L_ENST00000523515.1_5'Flank	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		ACATGAAATTTTACAATACTA	0.338																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:26238477T>G	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26238477T>G	Exception_encountered													0	1471	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.338	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		15	21	0	0	0	1	0	15	21				
CACNA1A	773	broad.mit.edu	37	19	13482541	13482541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:13482541G>A	ENST00000360228.5	-	4	591	c.592C>T	c.(592-594)Cga>Tga	p.R198*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.R198*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	198					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCAGCACTCGAACTGCCCTC	0.582																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(592-594)Cga>Tga		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						19.0	23.0	22.0					19																	13482541		1994	4157	6151	SO:0001587	stop_gained	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13482541G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.592C>T	19.37:g.13482541G>A	ENSP00000353362:p.Arg198*					CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.R198*	p.R198*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		4	591	-			198					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	ENST00000360228.5	37	c.592C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	36	5.849290	0.97023	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	4.91	3.87	0.44632	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1016	0.53788	0.0853:0.0:0.9147:0.0	.	.	.	.	X	198	.	ENSP00000317661:R198X	R	-	1	2	CACNA1A	13343541	1.000000	0.71417	0.984000	0.44739	0.777000	0.43975	4.483000	0.60264	1.081000	0.41110	-0.136000	0.14681	CGA		0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		4	11	0	0	0	1	0	4	11				
RALYL	138046	broad.mit.edu	37	8	85774639	85774639	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:85774639C>T	ENST00000521268.1	+	6	1627	c.522C>T	c.(520-522)tcC>tcT	p.S174S	RALYL_ENST00000521695.1_Silent_p.S174S|RALYL_ENST00000518566.1_Silent_p.S163S|RALYL_ENST00000523850.1_Silent_p.S101S|RALYL_ENST00000517638.1_Silent_p.S187S|RALYL_ENST00000522455.1_Silent_p.S174S|RALYL_ENST00000521376.1_Silent_p.S85S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	174							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAGTCTTTTCCATGAAAGGTG	0.483																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(520-522)tcC>tcT		RALY RNA binding protein-like							70.0	74.0	73.0					8																	85774639		1928	4138	6066	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774639C>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.522C>T	8.37:g.85774639C>T						RALYL_ENST00000522455.1_Silent_p.S174S|RALYL_ENST00000523850.1_Silent_p.S101S|RALYL_ENST00000518566.1_Silent_p.S163S|RALYL_ENST00000517638.1_Silent_p.S187S|RALYL_ENST00000521376.1_Silent_p.S85S|RALYL_ENST00000521695.1_Silent_p.S174S	p.S174S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			6	1627	+			174					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.522C>T	CCDS55253.1																																																																																				0.483	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			13	21	0	0	0	1	0	13	21				
CEACAM18	729767	broad.mit.edu	37	19	51986322	51986322	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51986322T>C	ENST00000396477.4	+	4	746	c.725T>C	c.(724-726)aTt>aCt	p.I242T	CEACAM18_ENST00000451626.1_Missense_Mutation_p.I303T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	242	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCAACGGCATTGTGACAGCT	0.537																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(724-726)aTt>aCt		carcinoembryonic antigen-related cell adhesion molecule 18							220.0	209.0	213.0					19																	51986322		1982	4180	6162	SO:0001583	missense	729767					integral to membrane		g.chr19:51986322T>C			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.725T>C	19.37:g.51986322T>C	ENSP00000379738:p.Ile242Thr					CEACAM18_ENST00000451626.1_Missense_Mutation_p.I303T	p.I242T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	746	+		all_neural(266;0.0529)	303					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.725T>C		.	.	.	.	.	.	.	.	.	.	.	6.279	0.419646	0.11928	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.04917	3.53	2.76	-0.645	0.11475	Immunoglobulin-like (1);	.	.	.	.	T	0.03871	0.0109	N	0.20530	0.585	0.09310	N	1	B	0.17852	0.024	B	0.22152	0.038	T	0.47522	-0.9111	9	0.21540	T	0.41	-11.004	5.7588	0.18188	0.0:0.4373:0.0:0.5627	.	303	A8MTB9	CEA18_HUMAN	T	303;242;242	ENSP00000402203:I303T	ENSP00000379738:I242T	I	+	2	0	CEACAM18	56678134	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.138000	0.10374	-0.196000	0.10366	0.374000	0.22700	ATT		0.537	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			24	175	0	0	0	1	0	24	175				
CTSD	1509	broad.mit.edu	37	11	1778571	1778571	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1778571G>T	ENST00000236671.2	-	5	819	c.687C>A	c.(685-687)ttC>ttA	p.F229L	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.S100Y	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	229			F -> I (in CLN10). {ECO:0000269|PubMed:16685649, ECO:0000269|PubMed:21990111}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGTAGAAGGAGAAGATGTTCT	0.637																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(685-687)ttC>ttA		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						120.0	83.0	95.0					11																	1778571		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1778571G>T	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.687C>A	11.37:g.1778571G>T	ENSP00000236671:p.Phe229Leu					RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.S100Y	p.F229L	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	5	819	-		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)	229		F -> I (in CLN10).			Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.687C>A	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.3|22.3	4.271570|4.271570	0.80469|0.80469	.|.	.|.	ENSG00000117984|ENSG00000250644	ENST00000236671;ENST00000438213;ENST00000367196|ENST00000427721	T;T;T|.	0.71222|.	-0.55;-0.55;-0.55|.	4.07|4.07	1.01|1.01	0.19927|0.19927	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.051567|.	0.85682|.	N|.	0.000000|.	D|D	0.84352|0.84352	0.5453|0.5453	H|H	0.97158|0.97158	3.95|3.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.84896|0.84896	0.0839|0.0839	10|5	0.87932|.	D|.	0|.	.|.	9.1157|9.1157	0.36755|0.36755	0.3188:0.0:0.6812:0.0|0.3188:0.0:0.6812:0.0	.|.	229|.	P07339|.	CATD_HUMAN|.	L|Y	229;214;194|100	ENSP00000236671:F229L;ENSP00000415036:F214L;ENSP00000356164:F194L|.	ENSP00000236671:F229L|.	F|S	-|-	3|2	2|0	CTSD|RP11-295K3.1	1735147|1735147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	1.206000|1.206000	0.32321|0.32321	0.373000|0.373000	0.24621|0.24621	0.472000|0.472000	0.43445|0.43445	TTC|TCT		0.637	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		13	29	1	0	4.3838e-07	1	4.998e-07	13	29				
KDR	3791	broad.mit.edu	37	4	55968605	55968605	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55968605G>T	ENST00000263923.4	-	14	2353	c.2058C>A	c.(2056-2058)gtC>gtA	p.V686V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	686	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGTGCATGAGACTTCGATGC	0.453			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2056-2058)gtC>gtA		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						192.0	163.0	173.0					4																	55968605		2203	4300	6503	SO:0001819	synonymous_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55968605G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2058C>A	4.37:g.55968605G>T		TSP Lung(20;0.16)					p.V686V	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		14	2353	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		686			Ig-like C2-type 7.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.2058C>A	CCDS3497.1																																																																																				0.453	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			28	64	1	0	9.22233e-05	1	9.98021e-05	28	64				
LRP6	4040	broad.mit.edu	37	12	12317334	12317334	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12317334A>C	ENST00000261349.4	-	9	2001	c.1925T>G	c.(1924-1926)aTc>aGc	p.I642S	LRP6_ENST00000543091.1_Missense_Mutation_p.I642S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	642	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATTCGTCTGATATCTGCTCT	0.443																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(1924-1926)aTc>aGc		low density lipoprotein receptor-related protein 6							106.0	104.0	105.0					12																	12317334		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12317334A>C	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1925T>G	12.37:g.12317334A>C	ENSP00000261349:p.Ile642Ser					LRP6_ENST00000543091.1_Missense_Mutation_p.I642S	p.I642S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			9	2001	-		Prostate(47;0.0865)	642			Beta-propeller 3.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1925T>G	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530046	0.85706	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.94092	-3.35;-3.35	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000008	D	0.97670	0.9236	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.848	D	0.98816	1.0745	10	0.87932	D	0	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	642;642	F5H7J9;O75581	.;LRP6_HUMAN	S	642	ENSP00000261349:I642S;ENSP00000442472:I642S	ENSP00000261349:I642S	I	-	2	0	LRP6	12208601	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.248000	0.95456	2.279000	0.76181	0.533000	0.62120	ATC		0.443	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			21	45	0	0	0	1	0	21	45				
KHDRBS2	202559	broad.mit.edu	37	6	62995813	62995813	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:62995813T>C	ENST00000281156.4	-	1	319	c.41A>G	c.(40-42)aAa>aGa	p.K14R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	14					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAGGCTATCTTTCTCTGCCAT	0.587																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(40-42)aAa>aGa		KH domain containing, RNA binding, signal transduction associated 2							139.0	103.0	115.0					6																	62995813		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62995813T>C	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.41A>G	6.37:g.62995813T>C	ENSP00000281156:p.Lys14Arg						p.K14R	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	1	319	-			14					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.41A>G	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406644	0.42715	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.53206	0.63	5.41	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	L	0.45352	1.415	0.41982	D	0.990807	P	0.38788	0.647	B	0.28553	0.091	T	0.04191	-1.0970	10	0.29301	T	0.29	.	8.0612	0.30633	0.0:0.0918:0.0:0.9082	.	14	Q5VWX1	KHDR2_HUMAN	R	14	ENSP00000281156:K14R	ENSP00000281156:K14R	K	-	2	0	KHDRBS2	63053772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.568000	0.60857	0.901000	0.36495	0.454000	0.30748	AAA		0.587	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		12	28	0	0	0	1	0	12	28				
FZD9	8326	broad.mit.edu	37	7	72849234	72849234	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:72849234C>T	ENST00000344575.3	+	1	1126	c.897C>T	c.(895-897)ggC>ggT	p.G299G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	299					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGAGGCGGGCGCGCTCTACG	0.637																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(895-897)ggC>ggT		frizzled family receptor 9							102.0	93.0	96.0					7																	72849234		2202	4300	6502	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849234C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.897C>T	7.37:g.72849234C>T							p.G299G	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1126	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	299						Silent	SNP	ENST00000344575.3	37	c.897C>T	CCDS5548.1																																																																																				0.637	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			50	83	0	0	0	1	0	50	83				
COL22A1	169044	broad.mit.edu	37	8	139620199	139620199	+	Missense_Mutation	SNP	G	G	A	rs149644599		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139620199G>A	ENST00000303045.6	-	57	4458	c.4012C>T	c.(4012-4014)Cct>Tct	p.P1338S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1318S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1338	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAAGGGCCAGGCTCTCCTGGA	0.527										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4012-4014)Cct>Tct		collagen, type XXII, alpha 1							101.0	98.0	99.0					8																	139620199		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139620199G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4012C>T	8.37:g.139620199G>A	ENSP00000303153:p.Pro1338Ser	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1318S	p.P1338S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		57	4458	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1338			Collagen-like 13.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4012C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301611	0.40694	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96011	-3.88;-3.88	5.57	3.76	0.43208	.	0.130327	0.34853	N	0.003639	D	0.92932	0.7751	M	0.72479	2.2	0.38921	D	0.957736	B;B	0.27882	0.192;0.013	B;B	0.15052	0.007;0.012	D	0.89592	0.3828	10	0.40728	T	0.16	.	9.46	0.38778	0.0739:0.0:0.7822:0.1439	.	1318;1338	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1338;1318;1031	ENSP00000303153:P1338S;ENSP00000387655:P1318S	ENSP00000303153:P1338S	P	-	1	0	COL22A1	139689381	1.000000	0.71417	0.993000	0.49108	0.729000	0.41735	0.798000	0.27014	0.691000	0.31592	0.563000	0.77884	CCT		0.527	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		10	34	0	0	0	1	0	10	34				
HEATR9	256957	broad.mit.edu	37	17	34182689	34182689	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34182689G>A	ENST00000311880.2	-	14	1492	c.1344C>T	c.(1342-1344)aaC>aaT	p.N448N	C17orf66_ENST00000592980.1_Silent_p.N408N	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		448					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CAGCCTGGTGGTTTTCTGCAT	0.527																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(1342-1344)aaC>aaT		chromosome 17 open reading frame 66							128.0	118.0	121.0					17																	34182689		2203	4300	6503	SO:0001819	synonymous_variant	256957						binding	g.chr17:34182689G>A																												ENST00000311880.2:c.1344C>T	17.37:g.34182689G>A						C17orf66_ENST00000592980.1_Silent_p.N408N	p.N448N	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	14	1492	-		Ovarian(249;0.17)	448					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	c.1344C>T	CCDS11299.1																																																																																				0.527	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			30	67	0	0	0	1	0	30	67				
FASTKD5	60493	broad.mit.edu	37	20	3129698	3129698	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3129698A>G	ENST00000380266.3	-	2	340	c.19T>C	c.(19-21)Tca>Cca	p.S7P	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	7					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGTTTTAATGACTTGAGAGTA	0.453																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(19-21)Tca>Cca		FAST kinase domains 5							75.0	70.0	72.0					20																	3129698		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3129698A>G	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.19T>C	20.37:g.3129698A>G	ENSP00000369618:p.Ser7Pro					UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.S7P	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	340	-			7					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.19T>C	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	A	8.126	0.781909	0.16189	.	.	ENSG00000215251	ENST00000380266	T	0.14640	2.49	5.08	-0.598	0.11649	.	4.826620	0.01612	U	0.022570	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.29909	0.261	B	0.22601	0.04	T	0.38520	-0.9657	10	0.66056	D	0.02	.	10.7418	0.46158	0.5689:0.0:0.4311:0.0	.	7	Q7L8L6	FAKD5_HUMAN	P	7	ENSP00000369618:S7P	ENSP00000369618:S7P	S	-	1	0	FASTKD5	3077698	0.000000	0.05858	0.009000	0.14445	0.220000	0.24768	-0.719000	0.04974	-0.277000	0.09193	0.379000	0.24179	TCA		0.453	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		16	24	0	0	0	1	0	16	24				
ATP5SL	55101	broad.mit.edu	37	19	41944166	41944166	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:41944166A>G	ENST00000221943.9	-	2	177	c.172T>C	c.(172-174)Tac>Cac	p.Y58H	ATP5SL_ENST00000592922.2_Missense_Mutation_p.Y58H|ATP5SL_ENST00000589970.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000301183.11_Missense_Mutation_p.Y64H|ATP5SL_ENST00000597457.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000417807.3_Missense_Mutation_p.Y64H|ATP5SL_ENST00000590641.2_Missense_Mutation_p.Y64H|ATP5SL_ENST00000438807.3_Missense_Mutation_p.Y58H|ATP5SL_ENST00000595425.1_Missense_Mutation_p.Y58H	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	58						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TGGAGCAAGTAATCCCTCAGA	0.537																																						ENST00000221943.9																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						c.(172-174)Tac>Cac		ATP5S-like							193.0	169.0	178.0					19																	41944166		2203	4300	6503	SO:0001583	missense	55101							g.chr19:41944166A>G	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.172T>C	19.37:g.41944166A>G	ENSP00000221943:p.Tyr58His					ATP5SL_ENST00000592922.2_Missense_Mutation_p.Y58H|ATP5SL_ENST00000590641.2_Missense_Mutation_p.Y64H|ATP5SL_ENST00000589970.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000438807.3_Missense_Mutation_p.Y58H|ATP5SL_ENST00000417807.3_Missense_Mutation_p.Y64H|ATP5SL_ENST00000597457.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000595425.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000301183.11_Missense_Mutation_p.Y64H	p.Y58H	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN			2	177	-			58					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	ENST00000221943.9	37	c.172T>C	CCDS33032.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060300	0.36373	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T;T	0.35048	2.97;1.33;2.95;1.77	3.31	1.21	0.21127	.	0.283609	0.30565	N	0.009350	T	0.48352	0.1495	M	0.75447	2.3	0.09310	N	1	D;B;B;B;D;D;D	0.60575	0.985;0.185;0.185;0.185;0.958;0.966;0.988	P;B;B;B;P;P;P	0.60886	0.838;0.073;0.073;0.073;0.66;0.807;0.88	T	0.33752	-0.9856	10	0.59425	D	0.04	-9.3083	4.9898	0.14209	0.7389:0.0:0.2611:0.0	.	64;64;58;58;58;58;64	B4DFT4;B4DDC0;Q9NW81-2;B4DMZ4;E9PDC6;Q9NW81;F5H4W7	.;.;.;.;.;AT5SL_HUMAN;.	H	58;58;64;64;134	ENSP00000221943:Y58H;ENSP00000397413:Y58H;ENSP00000403910:Y64H;ENSP00000301183:Y64H	ENSP00000221943:Y58H	Y	-	1	0	ATP5SL	46636006	0.019000	0.18553	0.050000	0.19076	0.012000	0.07955	1.039000	0.30266	0.180000	0.19960	0.459000	0.35465	TAC		0.537	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		4	122	0	0	0	1	0	4	122				
DNAH9	1770	broad.mit.edu	37	17	11593429	11593429	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11593429G>T	ENST00000262442.4	+	20	4358	c.4290G>T	c.(4288-4290)gaG>gaT	p.E1430D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1430D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1430	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCAAAAGAGATGGGTATGG	0.562																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(4288-4290)gaG>gaT		dynein, axonemal, heavy chain 9							58.0	53.0	55.0					17																	11593429		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593429G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4290G>T	17.37:g.11593429G>T	ENSP00000262442:p.Glu1430Asp					DNAH9_ENST00000454412.2_Missense_Mutation_p.E1430D	p.E1430D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	4358	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1430			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.4290G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134249	0.77662	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75589	-0.95;-0.95	5.84	5.84	0.93424	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93886	0.7175	10	0.72032	D	0.01	.	11.1023	0.48182	0.1106:0.0:0.8894:0.0	.	1430	Q9NYC9	DYH9_HUMAN	D	1430;1430;12	ENSP00000262442:E1430D;ENSP00000414874:E1430D	ENSP00000262442:E1430D	E	+	3	2	DNAH9	11534154	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.436000	0.34980	2.779000	0.95612	0.655000	0.94253	GAG		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		19	38	1	0	7.07596e-05	1	7.68259e-05	19	38				
OR8I2	120586	broad.mit.edu	37	11	55861062	55861062	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55861062C>A	ENST00000302124.2	+	1	310	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GATCCATCTCCTTTGTTGGCT	0.388																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(277-279)tcC>tcA		olfactory receptor, family 8, subfamily I, member 2							166.0	154.0	158.0					11																	55861062		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861062C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.279C>A	11.37:g.55861062C>A						OR8I2_ENST00000560768.1_Silent_p.S93S	p.S93S			Q8N0Y5	OR8I2_HUMAN			1	310	+	Esophageal squamous(21;0.00693)		93					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.279C>A	CCDS31517.1																																																																																				0.388	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		53	67	1	0	9.86064e-34	1	1.41589e-33	53	67				
CPA3	1359	broad.mit.edu	37	3	148583119	148583119	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148583119T>G	ENST00000296046.3	+	1	77	c.25T>G	c.(25-27)Ttg>Gtg	p.L9V	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	9					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCCTGTGGGTTTGATTGCTAC	0.468																																						ENST00000296046.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(25-27)Ttg>Gtg		carboxypeptidase A3 (mast cell)							241.0	201.0	215.0					3																	148583119		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148583119T>G		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.25T>G	3.37:g.148583119T>G	ENSP00000296046:p.Leu9Val					RP11-680B3.2_ENST00000488190.1_RNA	p.L9V	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		1	77	+			9					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.25T>G	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	T	10.47	1.358085	0.24598	.	.	ENSG00000163751	ENST00000296046	T	0.10860	2.83	5.89	-2.33	0.06724	.	0.443923	0.22724	N	0.056418	T	0.08088	0.0202	L	0.60845	1.875	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.44544	-0.9321	10	0.11794	T	0.64	.	6.6457	0.22934	0.0:0.3942:0.1385:0.4673	.	9	P15088	CBPA3_HUMAN	V	9	ENSP00000296046:L9V	ENSP00000296046:L9V	L	+	1	2	CPA3	150065809	0.020000	0.18652	0.000000	0.03702	0.043000	0.13939	-0.057000	0.11768	-0.647000	0.05444	-0.379000	0.06801	TTG		0.468	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		15	54	0	0	0	1	0	15	54				
HEATR5A	25938	broad.mit.edu	37	14	31828138	31828138	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31828138A>C	ENST00000389961.3	-	14	2178	c.2179T>G	c.(2179-2181)Ttc>Gtc	p.F727V	HEATR5A_ENST00000439727.1_Missense_Mutation_p.F440V|HEATR5A_ENST00000543095.2_Missense_Mutation_p.F733V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.F727V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.F733V			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	727										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCTTGTAGGAAAGGACTTAGT	0.393																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(2197-2199)Ttc>Gtc		HEAT repeat containing 5A							69.0	66.0	67.0					14																	31828138		1873	4106	5979	SO:0001583	missense	25938						binding	g.chr14:31828138A>C	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2179T>G	14.37:g.31828138A>C	ENSP00000374611:p.Phe727Val					HEATR5A_ENST00000439348.1_Missense_Mutation_p.F727V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.F440V|HEATR5A_ENST00000389961.3_Missense_Mutation_p.F727V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.F733V	p.F733V	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	15	2381	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		727					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2197T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.37|10.37	1.331347|1.331347	0.24167|0.24167	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000550366|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T	.|0.39229	.|1.09;1.09;1.09;1.09	5.29|5.29	2.92|2.92	0.33932|0.33932	.|Armadillo-type fold (1);	0.282842|0.282842	0.29830|0.29830	N|N	0.011091|0.011091	T|T	0.22126|0.22126	0.0533|0.0533	N|N	0.08118|0.08118	0|0	0.20196|0.20196	N|N	0.99992|0.99992	.|B;B;B	.|0.06786	.|0.001;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.18587|0.18587	-1.0332|-1.0332	6|10	.|0.62326	.|D	.|0.03	.|.	8.9011|8.9011	0.35495|0.35495	0.7847:0.0:0.2153:0.0|0.7847:0.0:0.2153:0.0	.|.	.|733;727;727	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	C|V	375|727;727;440;733;733	.|ENSP00000374611:F727V;ENSP00000405407:F727V;ENSP00000408681:F440V;ENSP00000437968:F733V	.|ENSP00000374611:F727V	F|F	-|-	2|1	0|0	HEATR5A|HEATR5A	30897889|30897889	0.548000|0.548000	0.26473|0.26473	0.998000|0.998000	0.56505|0.56505	0.539000|0.539000	0.34962|0.34962	0.769000|0.769000	0.26604|0.26604	0.410000|0.410000	0.25675|0.25675	0.460000|0.460000	0.39030|0.39030	TTT|TTC		0.393	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		15	33	0	0	0	1	0	15	33				
ACTR8	93973	broad.mit.edu	37	3	53904164	53904164	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53904164C>T	ENST00000335754.3	-	12	1676	c.1576G>A	c.(1576-1578)Gac>Aac	p.D526N	ACTR8_ENST00000482349.1_Missense_Mutation_p.D415N|ACTR8_ENST00000231909.7_Missense_Mutation_p.D231N|ACTR8_ENST00000488802.1_5'UTR	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	526					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TTTTTGGTGTCGTCAGATGCT	0.428																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(1576-1578)Gac>Aac		ARP8 actin-related protein 8 homolog (yeast)							166.0	145.0	152.0					3																	53904164		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53904164C>T		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1576G>A	3.37:g.53904164C>T	ENSP00000336842:p.Asp526Asn					ACTR8_ENST00000482349.1_Missense_Mutation_p.D415N|ACTR8_ENST00000488802.1_5'UTR|ACTR8_ENST00000231909.7_Missense_Mutation_p.D231N	p.D526N	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	12	1676	-			526					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.1576G>A	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319398	0.95682	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	D;D;D	0.98120	-3.69;-3.69;-4.73	5.18	5.18	0.71444	.	0.108957	0.64402	D	0.000007	D	0.97949	0.9325	L	0.55103	1.725	0.80722	D	1	D;P	0.67145	0.996;0.954	P;B	0.61275	0.886;0.311	D	0.98886	1.0771	10	0.87932	D	0	-12.9198	17.2355	0.86997	0.0:1.0:0.0:0.0	.	526;231	Q9H981;Q9H981-3	ARP8_HUMAN;.	N	526;415;231	ENSP00000336842:D526N;ENSP00000419429:D415N;ENSP00000231909:D231N	ENSP00000231909:D231N	D	-	1	0	ACTR8	53879204	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.464000	0.80887	2.574000	0.86865	0.655000	0.94253	GAC		0.428	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		20	47	0	0	0	1	0	20	47				
PCDH9	5101	broad.mit.edu	37	13	67802555	67802555	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:67802555A>C	ENST00000377865.2	-	1	152	c.18T>G	c.(16-18)ttT>ttG	p.F6L	PCDH9_ENST00000377861.3_Missense_Mutation_p.F6L|PCDH9_ENST00000328454.5_Missense_Mutation_p.F6L|PCDH9_ENST00000544246.1_Missense_Mutation_p.F6L|PCDH9_ENST00000456367.1_Missense_Mutation_p.F6L			Q9HC56	PCDH9_HUMAN	protocadherin 9	6					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCAACAGGTAAAAATCCCTCA	0.398																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(16-18)ttT>ttG		protocadherin 9							56.0	56.0	56.0					13																	67802555		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802555A>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.18T>G	13.37:g.67802555A>C	ENSP00000367096:p.Phe6Leu					PCDH9_ENST00000377861.3_Missense_Mutation_p.F6L|PCDH9_ENST00000328454.5_Missense_Mutation_p.F6L|PCDH9_ENST00000456367.1_Missense_Mutation_p.F6L|PCDH9_ENST00000377865.2_Missense_Mutation_p.F6L	p.F6L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	709	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	6					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.18T>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088221	0.36855	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.50813	0.78;0.78;0.73;0.73;0.75	5.82	5.82	0.92795	.	0.312770	0.39985	N	0.001220	T	0.28665	0.0710	N	0.08118	0	0.58432	D	0.999997	B;B;B;B	0.18610	0.007;0.02;0.028;0.029	B;B;B;B	0.20767	0.009;0.021;0.031;0.015	T	0.15492	-1.0435	10	0.10902	T	0.67	.	16.182	0.81915	1.0:0.0:0.0:0.0	.	6;6;6;6	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	L	6	ENSP00000442186:F6L;ENSP00000367096:F6L;ENSP00000401699:F6L;ENSP00000332060:F6L;ENSP00000367092:F6L	ENSP00000332060:F6L	F	-	3	2	PCDH9	66700556	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.116000	0.77119	2.222000	0.72286	0.528000	0.53228	TTT		0.398	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	39	0	0	0	1	0	5	39				
XIRP2	129446	broad.mit.edu	37	2	168114449	168114449	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168114449G>T	ENST00000409728.1	+	11	1581	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	XIRP2_ENST00000409605.1_Missense_Mutation_p.D243Y|XIRP2_ENST00000420519.1_Missense_Mutation_p.D498Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.D465Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.D465Y|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGAAATTATGATGAAGGTTT	0.328																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1492-1494)Gat>Tat		xin actin-binding repeat containing 2							76.0	71.0	72.0					2																	168114449		1838	4080	5918	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168114449G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1492G>T	2.37:g.168114449G>T	ENSP00000386619:p.Asp498Tyr					XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.D498Y|XIRP2_ENST00000409605.1_Missense_Mutation_p.D243Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.D465Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.D465Y|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR	p.D498Y	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN			11	1581	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.1492G>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454003	0.84209	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.81078	-1.42;-1.42;-1.42;-1.42;-1.45	5.82	5.82	0.92795	.	.	.	.	.	D	0.90762	0.7100	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91112	0.4923	8	0.87932	D	0	.	20.088	0.97803	0.0:0.0:1.0:0.0	.	465;498	A4UGR9-4;A4UGR9-6	.;.	Y	465;498;465;498;243	ENSP00000386454:D465Y;ENSP00000386619:D498Y;ENSP00000386724:D465Y;ENSP00000415541:D498Y;ENSP00000386981:D243Y	ENSP00000386454:D465Y	D	+	1	0	XIRP2	167822695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.799000	0.99117	2.739000	0.93911	0.655000	0.94253	GAT		0.328	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		26	30	1	0	3.28513e-13	1	4.19729e-13	26	30				
ZNF256	10172	broad.mit.edu	37	19	58452990	58452990	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58452990T>C	ENST00000282308.3	-	3	1382	c.1186A>G	c.(1186-1188)Aaa>Gaa	p.K396E	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	396					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CTCCGGTGTTTAATGAGGTGA	0.428																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1186-1188)Aaa>Gaa		zinc finger protein 256							70.0	66.0	68.0					19																	58452990		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452990T>C	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1186A>G	19.37:g.58452990T>C	ENSP00000282308:p.Lys396Glu					ZNF256_ENST00000598928.1_3'UTR	p.K396E	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1382	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	396					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.1186A>G	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	0.161	-1.080854	0.01888	.	.	ENSG00000152454	ENST00000282308	T	0.19394	2.15	2.97	-1.03	0.10102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08758	0.0217	N	0.16656	0.425	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.39820	-0.9595	9	0.02654	T	1	.	5.5474	0.17071	0.1619:0.0:0.335:0.5031	.	396	Q9Y2P7	ZN256_HUMAN	E	396	ENSP00000282308:K396E	ENSP00000282308:K396E	K	-	1	0	ZNF256	63144802	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.742000	0.00101	-0.462000	0.06984	-0.461000	0.05368	AAA		0.428	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			30	41	0	0	0	1	0	30	41				
TCEA3	6920	broad.mit.edu	37	1	23743807	23743807	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23743807A>T	ENST00000450454.2	-	4	421	c.315T>A	c.(313-315)tgT>tgA	p.C105*	TCEA3_ENST00000374601.3_Nonsense_Mutation_p.C105*|TCEA3_ENST00000461794.1_Nonsense_Mutation_p.C68*	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	105					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TCCAGTCTGAACACTCAAGcc	0.473																																						ENST00000450454.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(313-315)tgT>tgA		transcription elongation factor A (SII), 3							188.0	182.0	184.0					1																	23743807		1852	4096	5948	SO:0001587	stop_gained	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23743807A>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.315T>A	1.37:g.23743807A>T	ENSP00000406293:p.Cys105*					TCEA3_ENST00000461794.1_Nonsense_Mutation_p.C68*|TCEA3_ENST00000374601.3_Nonsense_Mutation_p.C105*	p.C105*	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	4	421	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	105					A8K2K7|Q5DR83	Nonsense_Mutation	SNP	ENST00000450454.2	37	c.315T>A	CCDS44086.1	.	.	.	.	.	.	.	.	.	.	A	9.742	1.165016	0.21538	.	.	ENSG00000204219	ENST00000450454;ENST00000374601	.	.	.	5.02	3.9	0.45041	.	2.104930	0.01538	N	0.019098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-2.5592	7.4641	0.27312	0.9037:0.0:0.0963:0.0	.	.	.	.	X	105	.	ENSP00000363729:C105X	C	-	3	2	TCEA3	23616394	0.004000	0.15560	0.029000	0.17559	0.045000	0.14185	0.676000	0.25247	1.055000	0.40461	0.533000	0.62120	TGT		0.473	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		8	70	0	0	0	1	0	8	70				
F13B	2165	broad.mit.edu	37	1	197008508	197008508	+	Nonstop_Mutation	SNP	C	C	A	rs370004456		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197008508C>A	ENST00000367412.1	-	12	2029	c.1986G>T	c.(1984-1986)taG>taT	p.*662Y	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	0					blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCATTCATTTCTATGTTCTTA	0.313																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1984-1986)taG>taT		coagulation factor XIII, B polypeptide		C	TYR/stop	0,4406		0,0,2203	147.0	164.0	158.0		1986	3.2	0.0	1		158	1,8595		0,1,4297	no	stop-lost	F13B	NM_001994.2		0,1,6500	AA,AC,CC		0.0116,0.0,0.0077		662/662	197008508	1,13001	2203	4298	6501	SO:0001578	stop_lost	2165				blood coagulation	extracellular region		g.chr1:197008508C>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1986G>T	1.37:g.197008508C>A							p.*662Y	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			12	2029	-			0					A8K3E5|Q5VYL5	Nonstop_Mutation	SNP	ENST00000367412.1	37	c.1986G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	0.532	-0.857270	0.02630	0.0	1.16E-4	ENSG00000143278	ENST00000367412	.	.	.	4.29	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0692	0.19879	0.0:0.1232:0.0:0.8768	.	.	.	.	Y	662	.	.	X	-	3	2	F13B	195275131	0.003000	0.15002	0.030000	0.17652	0.001000	0.01503	0.264000	0.18497	0.784000	0.33661	-0.373000	0.07131	TAG		0.313	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		10	123	1	0	2.80697e-09	1	3.36108e-09	10	123				
OR2W3	343171	broad.mit.edu	37	1	248059822	248059822	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248059822G>A	ENST00000360358.3	+	1	934	c.934G>A	c.(934-936)Gga>Aga	p.G312R	OR2W3_ENST00000537741.1_Missense_Mutation_p.G312R	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGAGAGCTAGGAAAGGAGTA	0.542																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(934-936)Gga>Aga		olfactory receptor, family 2, subfamily W, member 3							27.0	27.0	27.0					1																	248059822		2202	4300	6502	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059822G>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.934G>A	1.37:g.248059822G>A	ENSP00000353516:p.Gly312Arg					OR2W3_ENST00000360358.3_Missense_Mutation_p.G312R	p.G312R			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	1191	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		312					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.934G>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075616	0.36662	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00366	7.79;7.79	4.49	-0.688	0.11317	.	1.083490	0.07186	N	0.854788	T	0.00178	0.0005	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10683	-1.0619	10	0.19147	T	0.46	.	4.2279	0.10589	0.4687:0.0:0.37:0.1613	.	312	Q7Z3T1	OR2W3_HUMAN	R	312	ENSP00000445853:G312R;ENSP00000353516:G312R	ENSP00000353516:G312R	G	+	1	0	OR2W3	246126445	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.248000	0.08854	0.001000	0.14605	0.609000	0.83330	GGA		0.542	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		9	25	0	0	0	1	0	9	25				
C7orf60	154743	broad.mit.edu	37	7	112461939	112461939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:112461939G>A	ENST00000297145.4	-	5	1243	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	360							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						atatctGATCGAACATAGCAG	0.398																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1078-1080)Cga>Tga		chromosome 7 open reading frame 60							49.0	48.0	48.0					7																	112461939		1845	4089	5934	SO:0001587	stop_gained	154743							g.chr7:112461939G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.1078C>T	7.37:g.112461939G>A	ENSP00000297145:p.Arg360*						p.R360*	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			5	1243	-			360					Q8N3D0|Q96MV7	Nonsense_Mutation	SNP	ENST00000297145.4	37	c.1078C>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771003	0.69992	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5788	20.1197	0.97955	0.0:0.0:1.0:0.0	.	.	.	.	X	360;342;307	.	ENSP00000297145:R360X	R	-	1	2	C7orf60	112249175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.605000	0.98321	2.747000	0.94245	0.585000	0.79938	CGA		0.398	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		9	32	0	0	0	1	0	9	32				
ZNF449	203523	broad.mit.edu	37	X	134494128	134494128	+	Silent	SNP	C	C	T	rs144200813		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134494128C>T	ENST00000339249.4	+	5	824	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	228					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTGAGATCGGGATAGAAA	0.363													C|||	1	0.000264901	0.0	0.0	3775	,	,		12738	0.0		0.0	False		,,,				2504	0.001					ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(682-684)atC>atT		zinc finger protein 449							28.0	30.0	29.0					X																	134494128		2179	4215	6394	SO:0001819	synonymous_variant	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494128C>T	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.684C>T	X.37:g.134494128C>T							p.I228I	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			5	824	+	Acute lymphoblastic leukemia(192;6.56e-05)		228					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Silent	SNP	ENST00000339249.4	37	c.684C>T	CCDS14649.1																																																																																				0.363	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		22	36	0	0	0	1	0	22	36				
TDRD5	163589	broad.mit.edu	37	1	179564769	179564769	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179564769T>A	ENST00000367614.1	+	4	1006	c.647T>A	c.(646-648)aTt>aAt	p.I216N	TDRD5_ENST00000444136.1_Missense_Mutation_p.I216N|TDRD5_ENST00000294848.8_Missense_Mutation_p.I216N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	216					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAAGGTAAAATTTTTACCCAG	0.408																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(646-648)aTt>aAt		tudor domain containing 5							45.0	48.0	47.0					1																	179564769		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179564769T>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.647T>A	1.37:g.179564769T>A	ENSP00000356586:p.Ile216Asn					TDRD5_ENST00000367614.1_Missense_Mutation_p.I216N|TDRD5_ENST00000294848.8_Missense_Mutation_p.I216N	p.I216N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			4	897	+			216			Lotus/OST-HTH 2.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.647T>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.355558	0.24598	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.12147	2.71;2.71;2.9	4.98	0.74	0.18330	.	0.833392	0.10088	N	0.717544	T	0.05090	0.0136	N	0.08118	0	0.21220	N	0.999751	B;B	0.12630	0.006;0.001	B;B	0.10450	0.005;0.001	T	0.44997	-0.9291	10	0.10636	T	0.68	-16.6843	2.6934	0.05127	0.4394:0.1366:0.0:0.424	.	216;216	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	N	216	ENSP00000356586:I216N;ENSP00000294848:I216N;ENSP00000406052:I216N	ENSP00000294848:I216N	I	+	2	0	TDRD5	177831392	0.995000	0.38212	0.978000	0.43139	0.944000	0.59088	0.062000	0.14389	0.276000	0.22118	0.477000	0.44152	ATT		0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		8	34	0	0	0	1	0	8	34				
YBX2	51087	broad.mit.edu	37	17	7192940	7192940	+	Missense_Mutation	SNP	C	C	T	rs142210139		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7192940C>T	ENST00000007699.5	-	7	1016	c.953G>A	c.(952-954)cGc>cAc	p.R318H	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	318	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GTTTCGTGGGCGCTGGGGCTC	0.721																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(952-954)cGc>cAc		Y box binding protein 2		C	HIS/ARG	0,4406		0,0,2203	37.0	37.0	37.0		953	4.5	1.0	17	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	YBX2	NM_015982.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	318/365	7192940	1,13005	2203	4300	6503	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7192940C>T	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.953G>A	17.37:g.7192940C>T	ENSP00000007699:p.Arg318His						p.R318H	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			7	1016	-			318			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.953G>A	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.285951	0.59867	0.0	1.16E-4	ENSG00000006047	ENST00000007699	T	0.38560	1.13	5.51	4.54	0.55810	.	0.412591	0.26136	N	0.026128	T	0.54549	0.1865	M	0.75884	2.315	0.29269	N	0.870782	D	0.76494	0.999	P	0.57101	0.813	T	0.57985	-0.7716	10	0.87932	D	0	-7.0237	7.669	0.28447	0.1615:0.7551:0.0:0.0833	.	318	Q9Y2T7	YBOX2_HUMAN	H	318	ENSP00000007699:R318H	ENSP00000007699:R318H	R	-	2	0	YBX2	7133664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.304000	0.51866	1.475000	0.48197	0.655000	0.94253	CGC		0.721	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		15	32	0	0	0	1	0	15	32				
CTNNBL1	56259	broad.mit.edu	37	20	36488328	36488328	+	Missense_Mutation	SNP	G	G	A	rs535666882	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36488328G>A	ENST00000361383.6	+	14	1537	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N	CTNNBL1_ENST00000373473.1_Missense_Mutation_p.D287N|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.D222N|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.D447N	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	474					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGATCATCGACAATGACAC	0.517													G|||	2	0.000399361	0.0	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.002				Ovarian(184;582 2038 3273 4106 42608)	ENST00000405275.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28						c.(1339-1341)Gac>Aac		catenin, beta like 1							57.0	53.0	54.0					20																	36488328		2203	4300	6503	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36488328G>A	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1420G>A	20.37:g.36488328G>A	ENSP00000355050:p.Asp474Asn					CTNNBL1_ENST00000373473.1_Missense_Mutation_p.D287N|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.D222N|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.D474N	p.D447N			Q8WYA6	CTBL1_HUMAN			15	1582	+		Myeloproliferative disorder(115;0.00878)	474					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.1339G>A	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790612	0.70452	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.50813	0.73;0.74;0.75;0.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	M	0.72576	2.205	0.80722	D	1	P;D	0.54772	0.646;0.968	B;P	0.52031	0.054;0.688	T	0.60131	-0.7323	10	0.36615	T	0.2	-26.1276	17.9128	0.88939	0.0:0.0:1.0:0.0	.	474;287	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	N	474;447;287;222	ENSP00000355050:D474N;ENSP00000384355:D447N;ENSP00000362572:D287N;ENSP00000362568:D222N	ENSP00000355050:D474N	D	+	1	0	CTNNBL1	35921742	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	9.815000	0.99349	2.463000	0.83235	0.561000	0.74099	GAC		0.517	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		14	21	0	0	0	1	0	14	21				
OR1S1	219959	broad.mit.edu	37	11	57982521	57982521	+	Missense_Mutation	SNP	G	G	A	rs148202922		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57982521G>A	ENST00000309433.6	+	1	305	c.305G>A	c.(304-306)aGt>aAt	p.S102N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	102						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(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CAAACCAAGAGTCAATCCATC	0.428																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(304-306)aGt>aAt		olfactory receptor, family 1, subfamily S, member 1		G	ASN/SER	0,4402		0,0,2201	207.0	198.0	201.0		305	2.5	0.8	11	dbSNP_134	201	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR1S1	NM_001004458.1	46	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	102/326	57982521	1,12993	2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982521G>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.305G>A	11.37:g.57982521G>A	ENSP00000311688:p.Ser102Asn						p.S102N	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	305	+		Breast(21;0.0589)	102					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.305G>A	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	G	0.290	-0.980627	0.02197	0.0	1.16E-4	ENSG00000172774	ENST00000309433	T	0.01981	4.52	3.45	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.104805	0.42172	D	0.000749	T	0.01523	0.0049	N	0.21617	0.685	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.47394	-0.9121	10	0.26408	T	0.33	.	3.2306	0.06747	0.2341:0.2458:0.5201:0.0	.	102	Q8NH92	OR1S1_HUMAN	N	102	ENSP00000311688:S102N	ENSP00000311688:S102N	S	+	2	0	OR1S1	57739097	0.000000	0.05858	0.844000	0.33320	0.081000	0.17604	-0.455000	0.06762	0.628000	0.30357	0.479000	0.44913	AGT		0.428	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		65	105	0	0	0	1	0	65	105				
MICU1	10367	broad.mit.edu	37	10	74127971	74127971	+	Silent	SNP	G	G	A	rs539250393		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74127971G>A	ENST00000361114.5	-	12	1509	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	MICU1_ENST00000418483.2_Silent_p.F273F|MICU1_ENST00000398763.4_Silent_p.F273F|MICU1_ENST00000401998.3_Silent_p.F471F|MICU1_ENST00000398761.4_Silent_p.F473F	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	471					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TGGGTAAAGCGAAGTCCCAGG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19030	0.0		0.0	False		,,,				2504	0.001					ENST00000398761.4																			0											c.(1417-1419)ttC>ttT		mitochondrial calcium uptake 1							82.0	83.0	83.0					10																	74127971		1927	4144	6071	SO:0001819	synonymous_variant	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74127971G>A	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1413C>T	10.37:g.74127971G>A						MICU1_ENST00000401998.3_Silent_p.F471F|MICU1_ENST00000398763.4_Silent_p.F273F|MICU1_ENST00000361114.5_Silent_p.F471F|MICU1_ENST00000418483.2_Silent_p.F273F	p.F473F			Q9BPX6	MICU1_HUMAN			14	1551	-			471					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Silent	SNP	ENST00000361114.5	37	c.1419C>T	CCDS55715.1																																																																																				0.587	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		12	21	0	0	0	1	0	12	21				
OR6F1	343169	broad.mit.edu	37	1	247875278	247875278	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247875278G>A	ENST00000302084.2	-	1	827	c.780C>T	c.(778-780)gtC>gtT	p.V260V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TAGAGGTGCGGACGTGAAGGA	0.527																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(778-780)gtC>gtT		olfactory receptor, family 6, subfamily F, member 1							98.0	94.0	95.0					1																	247875278		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875278G>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.780C>T	1.37:g.247875278G>A						RP11-634B7.4_ENST00000449298.1_RNA	p.V260V	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	827	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		260					B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.780C>T	CCDS31095.1																																																																																				0.527	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		6	92	0	0	0	1	0	6	92				
BAGE2	85319	broad.mit.edu	37	21	11097646	11097646	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:11097646C>A	ENST00000470054.1	-	0	223							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gccagaaaaacctacaatagG	0.577																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							55.0	70.0	65.0					21																	11097646		1428	2592	4020			85319							g.chr21:11097646C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097646C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	223	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.577	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	68	1	0	0.00116845	1	0.00122532	5	68				
ZNF614	80110	broad.mit.edu	37	19	52519497	52519497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52519497C>A	ENST00000270649.6	-	5	1898	c.1354G>T	c.(1354-1356)Gaa>Taa	p.E452*	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAGGGTTTTTCTCCTGTATGA	0.403																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1354-1356)Gaa>Taa		zinc finger protein 614							114.0	110.0	111.0					19																	52519497		2203	4300	6503	SO:0001587	stop_gained	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519497C>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1354G>T	19.37:g.52519497C>A	ENSP00000270649:p.Glu452*					ZNF614_ENST00000356322.6_Intron	p.E452*	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1898	-		all_neural(266;0.0505)	452					Q494T8|Q8TCF4|Q9BSN8	Nonsense_Mutation	SNP	ENST00000270649.6	37	c.1354G>T	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	41	8.957801	0.99016	.	.	ENSG00000142556	ENST00000270649	.	.	.	3.5	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.9511	0.64118	0.0:1.0:0.0:0.0	.	.	.	.	X	452	.	ENSP00000270649:E452X	E	-	1	0	ZNF614	57211309	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.009000	0.63998	1.772000	0.52199	0.563000	0.77884	GAA		0.403	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		43	75	1	0	2.19962e-31	1	3.1472e-31	43	75				
CCDC108	255101	broad.mit.edu	37	2	219900213	219900213	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219900213C>A	ENST00000341552.5	-	5	614	c.531G>T	c.(529-531)aaG>aaT	p.K177N	CCDC108_ENST00000441968.1_Missense_Mutation_p.K177N|CCDC108_ENST00000324264.6_Missense_Mutation_p.K112N|CCDC108_ENST00000453220.1_Missense_Mutation_p.K177N|CCDC108_ENST00000295729.2_Missense_Mutation_p.K112N|CCDC108_ENST00000409865.3_Missense_Mutation_p.K166N|CCDC108_ENST00000410037.1_Missense_Mutation_p.K112N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	177						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTACTTCATCTTCTGGAGTT	0.468																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(529-531)aaG>aaT		coiled-coil domain containing 108							150.0	145.0	147.0					2																	219900213		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219900213C>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.531G>T	2.37:g.219900213C>A	ENSP00000340776:p.Lys177Asn					CCDC108_ENST00000295729.2_Missense_Mutation_p.K112N|CCDC108_ENST00000324264.6_Missense_Mutation_p.K112N|CCDC108_ENST00000409865.3_Missense_Mutation_p.K166N|CCDC108_ENST00000441968.1_Missense_Mutation_p.K177N|CCDC108_ENST00000410037.1_Missense_Mutation_p.K112N|CCDC108_ENST00000453220.1_Missense_Mutation_p.K177N	p.K177N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	614	-		Renal(207;0.0915)	177					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.531G>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650674	0.67472	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164;ENST00000457968;ENST00000436631;ENST00000295729;ENST00000324264;ENST00000458526	T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.16	5.16	0.70880	.	0.000000	0.46145	D	0.000310	T	0.53899	0.1825	M	0.80183	2.485	0.41508	D	0.988323	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.74023	0.981;0.982;0.967	T	0.59172	-0.7504	10	0.72032	D	0.01	-20.7676	9.4193	0.38541	0.0:0.8413:0.0:0.1587	.	166;112;177	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	N	177;177;177;166;112;111;166;112;112;112;112	ENSP00000340776:K177N;ENSP00000413377:K177N;ENSP00000409117:K177N;ENSP00000386945:K166N;ENSP00000386258:K112N;ENSP00000393483:K166N;ENSP00000396836:K112N;ENSP00000295729:K112N;ENSP00000313807:K112N;ENSP00000413746:K112N	ENSP00000295729:K112N	K	-	3	2	CCDC108	219608457	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	1.821000	0.39041	2.403000	0.81681	0.462000	0.41574	AAG		0.468	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		27	52	1	0	4.7796e-09	1	5.70246e-09	27	52				
FAT4	79633	broad.mit.edu	37	4	126239028	126239028	+	Missense_Mutation	SNP	G	G	A	rs370892297		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126239028G>A	ENST00000394329.3	+	1	1475	c.1462G>A	c.(1462-1464)Gcg>Acg	p.A488T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGCGAGGAGGCGCCTCCGGG	0.512											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(1462-1464)Gcg>Acg		FAT atypical cadherin 4		G	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	42.0	45.0	44.0		1462	4.7	1.0	4		44	0,8596		0,0,4298	no	missense	FAT4	NM_024582.4	58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	488/4982	126239028	1,12999	2202	4298	6500	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239028G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1462G>A	4.37:g.126239028G>A	ENSP00000377862:p.Ala488Thr		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.A488T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	1475	+			488			Cadherin 5.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1462G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608429	0.28623	2.27E-4	0.0	ENSG00000196159	ENST00000394329	T	0.55413	0.52	4.66	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.530163	0.13697	U	0.369099	T	0.48241	0.1489	L	0.45137	1.4	0.80722	D	1	B	0.19445	0.036	B	0.29176	0.099	T	0.39522	-0.9610	10	0.36615	T	0.2	.	12.8225	0.57700	0.0:0.0:0.8369:0.1631	.	488	Q6V0I7	FAT4_HUMAN	T	488	ENSP00000377862:A488T	ENSP00000377862:A488T	A	+	1	0	FAT4	126458478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.872000	0.56085	2.419000	0.82065	0.561000	0.74099	GCG		0.512	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	29	0	0	0	1	0	11	29				
PGR	5241	broad.mit.edu	37	11	100922293	100922293	+	Missense_Mutation	SNP	C	C	T	rs149186732	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:100922293C>T	ENST00000325455.5	-	5	3672	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	PGR_ENST00000534013.1_Missense_Mutation_p.R146Q|PGR_ENST00000263463.5_Missense_Mutation_p.R638Q	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	740	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R740Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	ATGTAAGTTTCGAAAACCTAC	0.328																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			1	Substitution - Missense(1)	p.R740Q(1)	liver(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2218-2220)cGa>cAa		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	77.0	76.0		2219,1727	5.2	1.0	11	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PGR	NM_000926.4,NM_001202474.1	43,43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	740/934,576/770	100922293	3,13003	2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100922293C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2219G>A	11.37:g.100922293C>T	ENSP00000325120:p.Arg740Gln					PGR_ENST00000534013.1_Missense_Mutation_p.R146Q|PGR_ENST00000263463.5_Missense_Mutation_p.R638Q	p.R740Q	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	5	3672	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	740			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2219G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039590	0.93630	2.27E-4	2.33E-4	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	D;D;D	0.96716	-4.1;-4.1;-4.1	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.69185	2.1	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.99;0.988;0.998	D	0.98745	1.0718	10	0.87932	D	0	.	18.8379	0.92169	0.0:1.0:0.0:0.0	.	638;740;121	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	Q	740;146;638;638	ENSP00000325120:R740Q;ENSP00000436561:R146Q;ENSP00000263463:R638Q	ENSP00000263463:R638Q	R	-	2	0	PGR	100427503	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.872000	0.63050	2.435000	0.82474	0.650000	0.86243	CGA		0.328	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			17	28	0	0	0	1	0	17	28				
KIT	3815	broad.mit.edu	37	4	55561832	55561832	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55561832G>A	ENST00000288135.5	+	2	319	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	74	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T74T(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGATGAAACGAATGAGAATA	0.458		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		1	Substitution - coding silent(1)	p.T74T(1)	large_intestine(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(220-222)acG>acA		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						108.0	100.0	103.0					4																	55561832		2203	4300	6503	SO:0001819	synonymous_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561832G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.222G>A	4.37:g.55561832G>A							p.T74T	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	319	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		74			Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.222G>A	CCDS3496.1																																																																																				0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			26	35	0	0	0	1	0	26	35				
NETO1	81832	broad.mit.edu	37	18	70526222	70526222	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:70526222A>G	ENST00000327305.6	-	4	965	c.308T>C	c.(307-309)gTt>gCt	p.V103A	NETO1_ENST00000299430.2_Missense_Mutation_p.V102A|NETO1_ENST00000583169.1_Missense_Mutation_p.V103A|NETO1_ENST00000397929.1_Missense_Mutation_p.V102A|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	103	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCATCTCGAACTTCAATATG	0.378																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(307-309)gTt>gCt		neuropilin (NRP) and tolloid (TLL)-like 1							92.0	91.0	91.0					18																	70526222		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526222A>G	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.308T>C	18.37:g.70526222A>G	ENSP00000313088:p.Val103Ala					NETO1_ENST00000299430.2_Missense_Mutation_p.V102A|NETO1_ENST00000583169.1_Missense_Mutation_p.V103A|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.V102A	p.V103A	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	965	-		Esophageal squamous(42;0.129)	103			CUB 1.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.308T>C	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896224	0.91962	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.44482	0.92;0.92;1.17	5.35	5.35	0.76521	CUB (5);	0.000000	0.53938	D	0.000054	T	0.69196	0.3084	M	0.87900	2.915	0.80722	D	1	D;D;P	0.67145	0.996;0.99;0.935	D;D;P	0.75484	0.986;0.98;0.835	T	0.75909	-0.3151	10	0.87932	D	0	10.4226	15.6405	0.76997	1.0:0.0:0.0:0.0	.	102;102;103	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	A	103;102;102	ENSP00000313088:V103A;ENSP00000299430:V102A;ENSP00000381024:V102A	ENSP00000299430:V102A	V	-	2	0	NETO1	68677202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.223000	0.95203	2.159000	0.67721	0.533000	0.62120	GTT		0.378	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		16	20	0	0	0	1	0	16	20				
KLHL41	10324	broad.mit.edu	37	2	170374884	170374884	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170374884A>G	ENST00000284669.1	+	4	1638	c.1561A>G	c.(1561-1563)Aaa>Gaa	p.K521E	RP11-724O16.1_ENST00000513963.1_Splice_Site_p.K459E|BBS5_ENST00000554017.1_Splice_Site_p.K459E|KLHL41_ENST00000463400.1_3'UTR	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	521					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TACAACAAATAAGTGAGTTGC	0.363																																						ENST00000284669.1																			0											c.e4+1		kelch-like family member 41							64.0	62.0	62.0					2																	170374884		2203	4300	6503	SO:0001630	splice_region_variant	10324							g.chr2:170374884A>G	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1562+1A>G	2.37:g.170374884A>G						RP11-724O16.1_ENST00000513963.1_Splice_Site_p.K459_splice|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Splice_Site_p.K459_splice	p.K521_splice	NM_006063.2	NP_006054.2					4	1638	+								Q53R42	Splice_Site	SNP	ENST00000284669.1	37	c.1562_splice	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833178	0.71258	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.78003	-1.14;-1.14;-1.14	5.82	5.82	0.92795	Kelch-type beta propeller (1);	0.043260	0.85682	D	0.000000	T	0.77032	0.4071	M	0.64404	1.975	0.80722	D	1	P;B	0.35155	0.487;0.368	B;B	0.35510	0.149;0.204	T	0.78411	-0.2214	10	0.59425	D	0.04	.	16.5441	0.84409	1.0:0.0:0.0:0.0	.	459;521	E9PBE3;O60662	.;KBTBA_HUMAN	E	459;459;521	ENSP00000452313:K459E;ENSP00000424363:K459E;ENSP00000284669:K521E	ENSP00000284669:K521E	K	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170083130	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	9.284000	0.95882	2.364000	0.80123	0.524000	0.50904	AAA		0.363	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063	Missense_Mutation	4	24	0	0	0	1	0	4	24				
ARAP3	64411	broad.mit.edu	37	5	141035789	141035789	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141035789T>C	ENST00000239440.4	-	28	3909	c.3844A>G	c.(3844-3846)Atc>Gtc	p.I1282V	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.I944V|ARAP3_ENST00000508305.1_Missense_Mutation_p.I1113V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1282	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTCTTGCGGATTCCCAGGTAG	0.557																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3844-3846)Atc>Gtc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							107.0	119.0	115.0					5																	141035789		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141035789T>C	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3844A>G	5.37:g.141035789T>C	ENSP00000239440:p.Ile1282Val					ARAP3_ENST00000513878.1_Missense_Mutation_p.I944V|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.I1113V	p.I1282V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			28	3909	-			1282			PH 3.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3844A>G	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	T	3.636	-0.074508	0.07184	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.44881	0.91;0.91;0.91	5.44	4.28	0.50868	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051800	0.85682	N	0.000000	T	0.34308	0.0893	N	0.20574	0.59	0.43183	D	0.995008	B;D;P	0.56968	0.095;0.978;0.928	B;P;P	0.55303	0.043;0.773;0.552	T	0.22277	-1.0221	10	0.02654	T	1	.	10.6265	0.45510	0.0:0.0763:0.0:0.9237	.	944;1113;1282	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	1113;1282;944	ENSP00000421826:I1113V;ENSP00000239440:I1282V;ENSP00000421468:I944V	ENSP00000239440:I1282V	I	-	1	0	ARAP3	141015973	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.596000	0.54024	0.912000	0.36772	0.482000	0.46254	ATC		0.557	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		52	80	0	0	0	1	0	52	80				
WNK4	65266	broad.mit.edu	37	17	40947053	40947053	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40947053T>C	ENST00000246914.5	+	14	2635	c.2614T>C	c.(2614-2616)Ttt>Ctt	p.F872L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	872					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CACACCCGAGTTTCCGGTCCC	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(2614-2616)Ttt>Ctt		WNK lysine deficient protein kinase 4							195.0	176.0	183.0					17																	40947053		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947053T>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2614T>C	17.37:g.40947053T>C	ENSP00000246914:p.Phe872Leu						p.F872L	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	14	2635	+		Breast(137;0.000143)	872					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2614T>C	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	T	2.689	-0.273525	0.05679	.	.	ENSG00000126562	ENST00000246914	T	0.22539	1.95	5.56	1.83	0.25207	.	0.270420	0.26532	N	0.023854	T	0.11537	0.0281	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.35151	-0.9800	10	0.10902	T	0.67	-7.293	8.5394	0.33384	0.0:0.0708:0.3512:0.578	.	872;872;872	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	L	872	ENSP00000246914:F872L	ENSP00000246914:F872L	F	+	1	0	WNK4	38200579	0.001000	0.12720	0.374000	0.26016	0.090000	0.18270	0.301000	0.19174	0.461000	0.27071	0.482000	0.46254	TTT		0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			55	82	0	0	0	1	0	55	82				
DYRK1B	9149	broad.mit.edu	37	19	40318227	40318227	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40318227C>T	ENST00000593685.1	-	7	1345	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	DYRK1B_ENST00000348817.3_Missense_Mutation_p.A293T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A293T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A293T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A293T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ATGTCAATGGCCAGGTCGTAG	0.592																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(877-879)Gcc>Acc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							73.0	66.0	69.0					19																	40318227		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318227C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.877G>A	19.37:g.40318227C>T	ENSP00000469863:p.Ala293Thr					DYRK1B_ENST00000430012.2_Missense_Mutation_p.A293T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A293T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A293T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A293T	p.A293T			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		7	1345	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		293			Protein kinase.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.877G>A	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029236	0.93518	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.22743	1.94;1.94;1.94	4.69	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061131	0.64402	D	0.000004	T	0.47783	0.1464	M	0.80616	2.505	0.80722	D	1	D;D;D	0.67145	0.991;0.996;0.991	D;D;D	0.68483	0.958;0.948;0.958	T	0.54417	-0.8297	10	0.72032	D	0.01	.	15.0985	0.72253	0.0:1.0:0.0:0.0	.	293;293;293	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	T	293	ENSP00000312789:A293T;ENSP00000221803:A293T;ENSP00000403182:A293T	ENSP00000312789:A293T	A	-	1	0	DYRK1B	45010067	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.787000	0.85759	2.151000	0.67156	0.455000	0.32223	GCC		0.592	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		20	62	0	0	0	1	0	20	62				
KNTC1	9735	broad.mit.edu	37	12	123087284	123087284	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:123087284C>A	ENST00000333479.7	+	46	4999	c.4822C>A	c.(4822-4824)Ctc>Atc	p.L1608I	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.L33I|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1608					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTGGAAAATTCTCTGTATGTG	0.358																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(4822-4824)Ctc>Atc		kinetochore associated 1							106.0	94.0	98.0					12																	123087284		1838	4083	5921	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123087284C>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4822C>A	12.37:g.123087284C>A	ENSP00000328236:p.Leu1608Ile					KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.L33I|KNTC1_ENST00000436959.3_5'UTR	p.L1608I	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	46	4999	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1608					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.4822C>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	8.159	0.789208	0.16258	.	.	ENSG00000184445	ENST00000333479;ENST00000537348	T;T	0.36520	1.25;1.25	5.93	1.9	0.25705	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.168879	0.46145	N	0.000310	T	0.13286	0.0322	N	0.10733	0.035	0.58432	D	0.999992	B	0.18310	0.027	B	0.22753	0.041	T	0.25916	-1.0118	10	0.02654	T	1	-3.1538	5.0677	0.14591	0.4905:0.2525:0.1924:0.0645	.	1608	P50748	KNTC1_HUMAN	I	1608;33	ENSP00000328236:L1608I;ENSP00000443622:L33I	ENSP00000328236:L1608I	L	+	1	0	KNTC1	121653237	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	1.434000	0.34958	0.068000	0.16574	0.655000	0.94253	CTC		0.358	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			11	28	1	0	3.86212e-05	1	4.21111e-05	11	28				
OR5W2	390148	broad.mit.edu	37	11	55681139	55681139	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55681139T>G	ENST00000344514.1	-	1	919	c.920A>C	c.(919-921)aAa>aCa	p.K307T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						aaataaaattttatttttCAG	0.303																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(919-921)aAa>aCa		olfactory receptor, family 5, subfamily W, member 2							13.0	14.0	14.0					11																	55681139		2094	4256	6350	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681139T>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.920A>C	11.37:g.55681139T>G	ENSP00000342448:p.Lys307Thr						p.K307T	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	919	-			307						Missense_Mutation	SNP	ENST00000344514.1	37	c.920A>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	.	9.021	0.984911	0.18889	.	.	ENSG00000187612	ENST00000344514	T	0.02763	4.17	4.2	3.08	0.35506	.	0.364935	0.19824	N	0.105223	T	0.03608	0.0103	L	0.57536	1.79	0.27432	N	0.953964	B	0.29571	0.249	B	0.28784	0.094	T	0.30060	-0.9991	10	0.48119	T	0.1	.	5.4813	0.16725	0.0:0.2197:0.0:0.7802	.	307	Q8NH69	OR5W2_HUMAN	T	307	ENSP00000342448:K307T	ENSP00000342448:K307T	K	-	2	0	OR5W2	55437715	0.000000	0.05858	0.098000	0.21074	0.685000	0.39939	-0.466000	0.06672	0.675000	0.31264	0.448000	0.29417	AAA		0.303	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		8	19	0	0	0	1	0	8	19				
COL13A1	1305	broad.mit.edu	37	10	71640268	71640268	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:71640268G>A	ENST00000398978.3	+	6	937	c.445G>A	c.(445-447)Gga>Aga	p.G149R	COL13A1_ENST00000398966.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G137R|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398971.3_Missense_Mutation_p.G149R|COL13A1_ENST00000356340.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398973.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G149R|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000354547.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000522165.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G149R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G149R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G149R	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.G149R(2)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GGGGTCCCCCGGAGACGCTGG	0.622																																						ENST00000356340.3																			2	Substitution - Missense(2)	p.G149R(2)	large_intestine(1)|endometrium(1)	endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(445-447)Gga>Aga		collagen, type XIII, alpha 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						33.0	34.0	33.0					10																	71640268		1822	4077	5899	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71640268G>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.445G>A	10.37:g.71640268G>A	ENSP00000381949:p.Gly149Arg					COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398973.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G137R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G149R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000357811.3_Missense_Mutation_p.G149R|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398978.3_Missense_Mutation_p.G149R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G149R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398964.3_Intron	p.G149R			Q5TAT6	CODA1_HUMAN			5	981	+			149			Triple-helical region 1 (COL1).			Missense_Mutation	SNP	ENST00000398978.3	37	c.445G>A	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961267	0.53400	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000517713;ENST00000522165	D;D;D;D;D;D;D;D;D;D;D;D	0.95724	-3.52;-3.69;-3.59;-3.66;-3.79;-3.31;-3.46;-3.42;-3.37;-3.36;-3.21;-3.32	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000003	D	0.97983	0.9336	M	0.88031	2.925	0.46222	D	0.998939	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98794	1.0737	10	0.87932	D	0	-3.9353	16.1293	0.81414	0.0:0.0:1.0:0.0	.	149;149;149;149;149;149;137;149;149;149;158;149;149;149;149	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES46;E7ES49;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	137;149;149;149;149;149;149;149;149;149;149;149	ENSP00000381946:G137R;ENSP00000381943:G149R;ENSP00000381940:G149R;ENSP00000381938:G149R;ENSP00000348695:G149R;ENSP00000381944:G149R;ENSP00000381945:G149R;ENSP00000381949:G149R;ENSP00000346553:G149R;ENSP00000350463:G149R;ENSP00000430061:G149R;ENSP00000428342:G149R	ENSP00000346553:G149R	G	+	1	0	COL13A1	71310274	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	4.768000	0.62293	2.559000	0.86315	0.655000	0.94253	GGA		0.622	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		11	29	0	0	0	1	0	11	29				
RUNDC3A	10900	broad.mit.edu	37	17	42392102	42392102	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42392102G>T	ENST00000426726.3	+	5	732		c.e5-1		RUNDC3A_ENST00000590941.1_Splice_Site|RUNDC3A_ENST00000225441.7_Splice_Site|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A						positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTCCCCACAGACGGTTCTAT	0.632																																					Pancreas(82;1061 1416 11136 20771 23901)	ENST00000426726.3																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.e5-1		RUN domain containing 3A							37.0	37.0	37.0					17																	42392102		2012	4166	6178	SO:0001630	splice_region_variant	10900				small GTPase mediated signal transduction		small GTPase regulator activity	g.chr17:42392102G>T	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.459-1G>T	17.37:g.42392102G>T						AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Splice_Site|RUNDC3A_ENST00000590941.1_Splice_Site		NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	5	732	+		Prostate(33;0.0233)						B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Splice_Site	SNP	ENST00000426726.3	37		CCDS45698.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801186	0.70567	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5733	0.76356	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUNDC3A	39747628	1.000000	0.71417	0.810000	0.32431	0.876000	0.50452	9.472000	0.97709	2.202000	0.70862	0.456000	0.33151	.		0.632	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695	Intron	16	21	1	0	1.99824e-07	1	2.29918e-07	16	21				
DYNC2LI1	51626	broad.mit.edu	37	2	44021614	44021614	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44021614C>T	ENST00000260605.8	+	6	439	c.339C>T	c.(337-339)ctC>ctT	p.L113L	DYNC2LI1_ENST00000406852.3_Silent_p.L113L|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000605786.1_Silent_p.L113L	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	113					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCTTGTTCTCGTTCTGGATC	0.333																																						ENST00000260605.8																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(337-339)ctC>ctT		dynein, cytoplasmic 2, light intermediate chain 1							69.0	72.0	71.0					2																	44021614		2202	4300	6502	SO:0001819	synonymous_variant	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44021614C>T		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.339C>T	2.37:g.44021614C>T						DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000406852.3_Silent_p.L113L|DYNC2LI1_ENST00000605786.1_Silent_p.L113L	p.L113L	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN			6	439	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	113					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Silent	SNP	ENST00000260605.8	37	c.339C>T	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	C	6.627	0.484051	0.12581	.	.	ENSG00000138036	ENST00000378587	.	.	.	4.72	3.57	0.40892	.	.	.	.	.	T	0.54615	0.1869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49579	-0.8925	4	.	.	.	-16.5954	5.7063	0.17911	0.0:0.1617:0.1445:0.6938	.	.	.	.	L	97	.	.	S	+	2	0	DYNC2LI1	43875118	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	0.357000	0.20199	0.934000	0.37316	-0.482000	0.04802	TCG		0.333	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		8	23	0	0	0	1	0	8	23				
NXF2B	728343	broad.mit.edu	37	X	101623766	101623766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101623766G>T	ENST00000372750.1	-	12	1395	c.596C>A	c.(595-597)tCt>tAt	p.S199Y	NXF2B_ENST00000372749.1_Missense_Mutation_p.S199Y|NXF2B_ENST00000372752.1_Missense_Mutation_p.S111Y|NXF2B_ENST00000457521.2_Missense_Mutation_p.S199Y|NXF2B_ENST00000412230.2_Missense_Mutation_p.S199Y			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	199	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						GGGCGCAGTAGAATGATTGAC	0.488																																						ENST00000457521.2																			0				breast(1)|kidney(1)|lung(4)|ovary(1)	7						c.(595-597)tCt>tAt		nuclear RNA export factor 2B							144.0	123.0	130.0					X																	101623766		2202	4281	6483	SO:0001583	missense	728343							g.chrX:101623766G>T		CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.596C>A	X.37:g.101623766G>T	ENSP00000361836:p.Ser199Tyr					NXF2B_ENST00000372749.1_Missense_Mutation_p.S199Y|NXF2B_ENST00000372750.1_Missense_Mutation_p.S199Y|NXF2B_ENST00000372752.1_Missense_Mutation_p.S111Y|NXF2B_ENST00000412230.2_Missense_Mutation_p.S199Y	p.S199Y							19	2467	-								Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	ENST00000372750.1	37	c.596C>A	CCDS43979.1	.	.	.	.	.	.	.	.	.	.	.	11.98	1.801326	0.31869	.	.	ENSG00000185945	ENST00000372752;ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	3.42	2.53	0.30540	.	0.208393	0.38897	N	0.001522	T	0.40423	0.1116	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20009	-1.0288	7	0.25106	T	0.35	.	7.6533	0.28360	0.0:0.2571:0.7429:0.0	.	.	.	.	Y	111;199;199;199;199	ENSP00000361838:S111Y;ENSP00000396447:S199Y;ENSP00000361835:S199Y;ENSP00000361836:S199Y;ENSP00000413087:S199Y	ENSP00000361835:S199Y	S	-	2	0	NXF2B	101510422	0.064000	0.20934	0.005000	0.12908	0.018000	0.09664	1.164000	0.31810	0.790000	0.33803	0.377000	0.23210	TCT		0.488	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058979.1			12	62	1	0	1.06801e-11	1	1.33247e-11	12	62				
KANK4	163782	broad.mit.edu	37	1	62703978	62703978	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62703978C>A	ENST00000371153.4	-	10	3337	c.2959G>T	c.(2959-2961)Gcg>Tcg	p.A987S	KANK4_ENST00000371150.1_Missense_Mutation_p.A343S|KANK4_ENST00000354381.3_Missense_Mutation_p.A359S|KANK4_ENST00000317477.4_Missense_Mutation_p.A125S	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	987			A -> V (in dbSNP:rs34591898).			cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCCTGCTCCGCGTGGGCTCTC	0.577																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(2959-2961)Gcg>Tcg		KN motif and ankyrin repeat domains 4							38.0	41.0	40.0					1																	62703978		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62703978C>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2959G>T	1.37:g.62703978C>A	ENSP00000360195:p.Ala987Ser					KANK4_ENST00000317477.4_Missense_Mutation_p.A125S|KANK4_ENST00000371150.1_Missense_Mutation_p.A343S|KANK4_ENST00000354381.3_Missense_Mutation_p.A359S	p.A987S	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			10	3337	-			987		A -> V (in dbSNP:rs34591898).			B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2959G>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979170	0.34942	.	.	ENSG00000132854	ENST00000371153;ENST00000317477;ENST00000354381;ENST00000371150	T;T;T;T	0.52754	0.74;0.65;0.73;0.74	5.02	2.98	0.34508	Ankyrin repeat-containing domain (2);	0.652243	0.12748	N	0.442434	T	0.20333	0.0489	N	0.04746	-0.17	0.22378	N	0.999153	B;B	0.20261	0.013;0.043	B;B	0.16722	0.012;0.016	T	0.26643	-1.0097	10	0.09590	T	0.72	-1.9699	3.7452	0.08545	0.5028:0.3315:0.0:0.1657	.	359;987	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	S	987;125;359;343	ENSP00000360195:A987S;ENSP00000321161:A125S;ENSP00000346352:A359S;ENSP00000360192:A343S	ENSP00000321161:A125S	A	-	1	0	KANK4	62476566	0.012000	0.17670	0.941000	0.38009	0.766000	0.43426	0.057000	0.14279	0.558000	0.29135	0.305000	0.20034	GCG		0.577	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		21	31	1	0	7.41877e-09	1	8.8016e-09	21	31				
VPS13C	54832	broad.mit.edu	37	15	62306143	62306143	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:62306143T>G	ENST00000261517.5	-	10	806	c.733A>C	c.(733-735)Att>Ctt	p.I245L	VPS13C_ENST00000249837.3_Missense_Mutation_p.I202L|VPS13C_ENST00000395896.4_Missense_Mutation_p.I245L|VPS13C_ENST00000395898.3_Missense_Mutation_p.I202L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGTATATAATTTTGTCTGCT	0.318																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(733-735)Att>Ctt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							83.0	85.0	84.0					15																	62306143		2203	4299	6502	SO:0001583	missense	54832				protein localization			g.chr15:62306143T>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.733A>C	15.37:g.62306143T>G	ENSP00000261517:p.Ile245Leu					VPS13C_ENST00000395896.4_Missense_Mutation_p.I245L|VPS13C_ENST00000395898.3_Missense_Mutation_p.I202L|VPS13C_ENST00000249837.3_Missense_Mutation_p.I202L	p.I245L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			10	806	-			245						Missense_Mutation	SNP	ENST00000261517.5	37	c.733A>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	5.940	0.357477	0.11239	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.43294	0.96;0.95;1.13;1.23	5.24	5.24	0.73138	.	0.239314	0.35179	N	0.003390	T	0.34019	0.0883	L	0.35487	1.065	0.43988	D	0.996688	B;B;B;B	0.28208	0.203;0.078;0.034;0.047	B;B;B;B	0.29716	0.022;0.106;0.047;0.049	T	0.24012	-1.0172	10	0.72032	D	0.01	.	11.434	0.50058	0.0:0.0732:0.0:0.9268	.	202;245;202;245	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	202;245;245;245	ENSP00000249837:I202L;ENSP00000261517:I245L;ENSP00000379233:I245L;ENSP00000379235:I245L	ENSP00000249837:I202L	I	-	1	0	VPS13C	60093435	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.789000	0.55454	2.106000	0.64143	0.477000	0.44152	ATT		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		13	25	0	0	0	1	0	13	25				
ABCB4	5244	broad.mit.edu	37	7	87035618	87035618	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87035618C>T	ENST00000265723.4	-	26	3604	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	ABCB4_ENST00000453593.1_Missense_Mutation_p.E1111K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1158K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1111K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E1158K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1165	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GGTAACGTCTCGATGAAAGGA	0.423																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(3493-3495)Gag>Aag		ATP-binding cassette, sub-family B (MDR/TAP), member 4							145.0	137.0	140.0					7																	87035618		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87035618C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3493G>A	7.37:g.87035618C>T	ENSP00000265723:p.Glu1165Lys					ABCB4_ENST00000453593.1_Missense_Mutation_p.E1111K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1111K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1158K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E1158K	p.E1165K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			26	3604	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1165			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3493G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649612	0.29336	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	5.48	4.61	0.57282	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.102061	0.64402	D	0.000003	D	0.87071	0.6086	N	0.11789	0.175	0.45580	D	0.998521	B;B;B	0.21225	0.053;0.029;0.037	B;B;B	0.29598	0.029;0.063;0.104	T	0.82380	-0.0486	10	0.28530	T	0.3	-14.5781	14.5955	0.68403	0.0:0.9298:0.0:0.0702	.	1111;1158;1165	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	1158;1111;1165;1111;1158	ENSP00000352135:E1158K;ENSP00000351172:E1111K;ENSP00000265723:E1165K;ENSP00000392983:E1111K;ENSP00000437465:E1158K	ENSP00000265723:E1165K	E	-	1	0	ABCB4	86873554	0.982000	0.34865	0.997000	0.53966	0.234000	0.25298	2.912000	0.48782	1.473000	0.48159	0.557000	0.71058	GAG		0.423	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		7	66	0	0	0	1	0	7	66				
CASC4	113201	broad.mit.edu	37	15	44673090	44673090	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44673090T>G	ENST00000345795.2	+	8	1258	c.988T>G	c.(988-990)Ttg>Gtg	p.L330V	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000299957.6_Missense_Mutation_p.L330V	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	330						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AGGCTCAAACTTGGACAGTGA	0.393																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(988-990)Ttg>Gtg		cancer susceptibility candidate 4							76.0	70.0	72.0					15																	44673090		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44673090T>G	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.988T>G	15.37:g.44673090T>G	ENSP00000335063:p.Leu330Val					CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.L330V	p.L330V	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	8	1287	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	330					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.988T>G	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117605	0.37339	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.92	-0.939	0.10408	.	0.909923	0.09559	N	0.785811	T	0.30510	0.0767	L	0.28274	0.84	0.80722	D	1	B;B;B	0.19200	0.013;0.034;0.016	B;B;B	0.24394	0.007;0.053;0.015	T	0.31110	-0.9955	9	0.13853	T	0.58	.	1.1823	0.01847	0.306:0.0911:0.1578:0.4451	.	330;330;330	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	V	330;330;309	.	ENSP00000299957:L330V	L	+	1	2	CASC4	42460382	0.014000	0.17966	0.994000	0.49952	0.944000	0.59088	-0.749000	0.04813	-0.107000	0.12088	0.397000	0.26171	TTG		0.393	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		14	35	0	0	0	1	0	14	35				
KMT2D	8085	broad.mit.edu	37	12	49432215	49432215	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49432215C>T	ENST00000301067.7	-	34	8923	c.8924G>A	c.(8923-8925)cGc>cAc	p.R2975H	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2975	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGATTGGGGCGGCCAAGCTC	0.582																																						ENST00000301067.7																			0											c.(8923-8925)cGc>cAc		lysine (K)-specific methyltransferase 2D							65.0	69.0	67.0					12																	49432215		1966	4138	6104	SO:0001583	missense	8085							g.chr12:49432215C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8924G>A	12.37:g.49432215C>T	ENSP00000301067:p.Arg2975His						p.R2975H	NM_003482.3	NP_003473.3					34	8923	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8924G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027302	0.35797	.	.	ENSG00000167548	ENST00000301067	T	0.79141	-1.24	5.73	5.73	0.89815	.	0.000000	0.38837	N	0.001560	T	0.74558	0.3732	N	0.14661	0.345	0.33455	D	0.584243	D	0.76494	0.999	P	0.57101	0.813	T	0.81722	-0.0803	10	0.87932	D	0	.	13.4164	0.60972	0.0:0.8427:0.1573:0.0	.	2975	O14686	MLL2_HUMAN	H	2975	ENSP00000301067:R2975H	ENSP00000301067:R2975H	R	-	2	0	MLL2	47718482	0.066000	0.20996	0.998000	0.56505	0.964000	0.63967	1.074000	0.30703	2.882000	0.98803	0.655000	0.94253	CGC		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			13	90	0	0	0	1	0	13	90				
ADCK1	57143	broad.mit.edu	37	14	78398005	78398005	+	Missense_Mutation	SNP	G	G	A	rs141847250	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:78398005G>A	ENST00000238561.5	+	10	1450	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.A383T	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	458	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCGCGCCAGCGCCAGCTCCTT	0.647													G|||	3	0.000599042	0.0	0.0	5008	,	,		16936	0.0		0.002	False		,,,				2504	0.001					ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(1351-1353)Gcc>Acc		aarF domain containing kinase 1		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	81.0	70.0	74.0		1147,1351	4.0	0.9	14	dbSNP_134	74	24,8576	17.9+/-57.8	1,22,4277	yes	missense,missense	ADCK1	NM_001142545.1,NM_020421.3	58,58	1,23,6479	AA,AG,GG		0.2791,0.0227,0.1922	possibly-damaging,possibly-damaging	383/456,451/524	78398005	25,12981	2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78398005G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1351G>A	14.37:g.78398005G>A	ENSP00000238561:p.Ala451Thr					ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.A383T	p.A451T	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	10	1450	+			458			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.1351G>A	CCDS9869.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.42	1.933280	0.34096	2.27E-4	0.002791	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.67171	-0.25;1.15	4.93	4.03	0.46877	.	0.062054	0.64402	D	0.000004	T	0.50650	0.1628	L	0.46885	1.475	0.49389	D	0.999784	B;P;B	0.40000	0.226;0.698;0.334	B;B;B	0.26693	0.017;0.072;0.038	T	0.48822	-0.9001	10	0.16420	T	0.52	-23.2983	12.736	0.57225	0.0:0.0:0.7007:0.2993	.	458;383;451	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	T	451;383	ENSP00000238561:A451T;ENSP00000339663:A383T	ENSP00000238561:A451T	A	+	1	0	ADCK1	77467758	1.000000	0.71417	0.894000	0.35097	0.992000	0.81027	4.139000	0.58024	1.183000	0.42943	0.549000	0.68633	GCC		0.647	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		14	32	0	0	0	1	0	14	32				
HUNK	30811	broad.mit.edu	37	21	33346944	33346944	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33346944T>C	ENST00000270112.2	+	7	1448	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	363					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGCGACGTGATCAACACTGTG	0.542																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(1087-1089)aTc>aCc		hormonally up-regulated Neu-associated kinase							119.0	103.0	108.0					21																	33346944		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33346944T>C	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1088T>C	21.37:g.33346944T>C	ENSP00000270112:p.Ile363Thr					HUNK_ENST00000465574.1_3'UTR	p.I363T	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			7	1448	+			363						Missense_Mutation	SNP	ENST00000270112.2	37	c.1088T>C	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579981	0.46006	.	.	ENSG00000142149	ENST00000270112	T	0.70516	-0.49	4.51	4.51	0.55191	.	0.126578	0.52532	D	0.000061	T	0.52980	0.1768	N	0.19112	0.55	0.53005	D	0.999965	B	0.18310	0.027	B	0.18263	0.021	T	0.49000	-0.8984	10	0.09084	T	0.74	-15.9659	14.3142	0.66437	0.0:0.0:0.0:1.0	.	363	P57058	HUNK_HUMAN	T	363	ENSP00000270112:I363T	ENSP00000270112:I363T	I	+	2	0	HUNK	32268815	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.018000	0.76406	2.029000	0.59856	0.459000	0.35465	ATC		0.542	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		16	92	0	0	0	1	0	16	92				
UBASH3A	53347	broad.mit.edu	37	21	43862683	43862683	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43862683T>G	ENST00000319294.6	+	12	1639	c.1608T>G	c.(1606-1608)aaT>aaG	p.N536K	UBASH3A_ENST00000398367.1_Missense_Mutation_p.N498K|UBASH3A_ENST00000291535.6_Missense_Mutation_p.N498K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	536	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AAGAGGCAAATTTCAACATTG	0.413																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1606-1608)aaT>aaG		ubiquitin associated and SH3 domain containing A							109.0	107.0	108.0					21																	43862683		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43862683T>G	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1608T>G	21.37:g.43862683T>G	ENSP00000317327:p.Asn536Lys					UBASH3A_ENST00000398367.1_Missense_Mutation_p.N498K|UBASH3A_ENST00000291535.6_Missense_Mutation_p.N498K	p.N536K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			12	1639	+			536			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1608T>G	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	T	7.037	0.561855	0.13498	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.71341	-0.56;-0.56;-0.56	4.79	-4.2	0.03823	Histidine phosphatase superfamily, clade-1 (1);	1.740740	0.02707	N	0.112402	T	0.48840	0.1522	N	0.13327	0.33	0.09310	N	0.999998	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.001;0.001;0.003	T	0.33240	-0.9876	10	0.13853	T	0.58	-0.9707	7.4147	0.27038	0.0:0.514:0.1402:0.3458	.	498;498;536	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	K	498;536;498	ENSP00000291535:N498K;ENSP00000317327:N536K;ENSP00000381408:N498K	ENSP00000291535:N498K	N	+	3	2	UBASH3A	42735752	0.001000	0.12720	0.010000	0.14722	0.015000	0.08874	-0.509000	0.06336	-0.339000	0.08401	-0.370000	0.07254	AAT		0.413	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		32	52	0	0	0	1	0	32	52				
SHROOM3	57619	broad.mit.edu	37	4	77700186	77700186	+	Silent	SNP	C	C	A	rs376844685		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77700186C>A	ENST00000296043.6	+	11	6800	c.5847C>A	c.(5845-5847)gtC>gtA	p.V1949V	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1949	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGGAGCAGGTCAAGTGTCTGC	0.582																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5845-5847)gtC>gtA		shroom family member 3							99.0	104.0	102.0					4																	77700186		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77700186C>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5847C>A	4.37:g.77700186C>A						RP11-359D14.3_ENST00000449007.1_RNA	p.V1949V	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		11	6800	+			1949			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.5847C>A	CCDS3579.2																																																																																				0.582	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		44	93	1	0	2.01872e-29	1	2.87446e-29	44	93				
MAP7D2	256714	broad.mit.edu	37	X	20043155	20043155	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:20043155C>T	ENST00000379651.3	-	9	1221	c.1203G>A	c.(1201-1203)gcG>gcA	p.A401A	MAP7D2_ENST00000379643.5_Silent_p.A442A|MAP7D2_ENST00000543767.1_Silent_p.A286A|MAP7D2_ENST00000443379.3_Silent_p.A356A|MAP7D2_ENST00000452324.3_Silent_p.A349A|MAP7D2_ENST00000466145.1_5'UTR	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	401					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCAAGATCTTCGCAGCCTCTC	0.522																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1201-1203)gcG>gcA		MAP7 domain containing 2							173.0	144.0	154.0					X																	20043155		2203	4300	6503	SO:0001819	synonymous_variant	256714							g.chrX:20043155C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1203G>A	X.37:g.20043155C>T						MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000543767.1_Silent_p.A286A|MAP7D2_ENST00000452324.3_Silent_p.A349A|MAP7D2_ENST00000443379.3_Silent_p.A356A|MAP7D2_ENST00000379643.5_Silent_p.A442A	p.A401A	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			9	1221	-			401					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.1203G>A	CCDS14195.1																																																																																				0.522	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		52	93	0	0	0	1	0	52	93				
RGS22	26166	broad.mit.edu	37	8	101084433	101084433	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:101084433T>G	ENST00000360863.6	-	5	559	c.365A>C	c.(364-366)aAg>aCg	p.K122T	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Missense_Mutation_p.K122T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	122					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTTGATCCACTTAATACCTTC	0.318																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(364-366)aAg>aCg		regulator of G-protein signaling 22							103.0	94.0	97.0					8																	101084433		1811	4081	5892	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101084433T>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.365A>C	8.37:g.101084433T>G	ENSP00000354109:p.Lys122Thr					RGS22_ENST00000523437.1_Missense_Mutation_p.K122T|RGS22_ENST00000523287.1_Intron	p.K122T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		5	559	-			122					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.365A>C	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.769999	0.31320	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437;ENST00000520117;ENST00000519092;ENST00000519408	T;T	0.63417	-0.04;-0.04	5.51	4.21	0.49690	.	0.918670	0.09140	N	0.843106	T	0.46014	0.1371	N	0.14661	0.345	0.09310	N	1	B;B	0.28128	0.201;0.201	B;B	0.24701	0.055;0.039	T	0.35475	-0.9787	10	0.56958	D	0.05	.	10.3272	0.43801	0.0:0.1101:0.0:0.8899	.	122;122	A8K944;Q8NE09	.;RGS22_HUMAN	T	122;122;122;41;26;26	ENSP00000354109:K122T;ENSP00000428212:K122T	ENSP00000354109:K122T	K	-	2	0	RGS22	101153609	0.985000	0.35326	0.345000	0.25642	0.993000	0.82548	3.661000	0.54503	2.226000	0.72624	0.482000	0.46254	AAG		0.318	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		7	39	0	0	0	1	0	7	39				
TTN	7273	broad.mit.edu	37	2	179604701	179604701	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179604701C>A	ENST00000591111.1	-	46	12532	c.12308G>T	c.(12307-12309)aGa>aTa	p.R4103I	TTN_ENST00000589042.1_Missense_Mutation_p.R4420I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4057I|TTN_ENST00000359218.5_Missense_Mutation_p.R4182I|TTN_ENST00000342175.6_Missense_Mutation_p.R4249I			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R4249I(1)|p.R4182I(1)|p.R4057I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAATATTTCTTAGCCACTC	0.473																																						ENST00000589042.1																			3	Substitution - Missense(3)	p.R4249I(1)|p.R4182I(1)|p.R4057I(1)	large_intestine(3)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13258-13260)aGa>aTa		titin							93.0	95.0	94.0					2																	179604701		1951	4130	6081	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604701C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12308G>T	2.37:g.179604701C>A	ENSP00000465570:p.Arg4103Ile					TTN_ENST00000342175.6_Missense_Mutation_p.R4249I|TTN_ENST00000359218.5_Missense_Mutation_p.R4182I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4057I|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R4103I	p.R4420I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13483	-			4103			Ig-like 24.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13259G>T		.	.	.	.	.	.	.	.	.	.	C	8.389	0.839256	0.16891	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.62105	0.11;0.06;0.05	5.56	4.68	0.58851	.	.	.	.	.	T	0.47266	0.1436	L	0.29908	0.895	0.31719	N	0.638484	B;B;B	0.21381	0.055;0.055;0.055	B;B;B	0.18263	0.021;0.021;0.021	T	0.53865	-0.8378	9	0.87932	D	0	.	5.5304	0.16980	0.0:0.6117:0.1594:0.2289	.	4057;4182;4249	D3DPF9;E7EQE6;E7ET18	.;.;.	I	4057;4249;4182;4057	ENSP00000434586:R4057I;ENSP00000340554:R4249I;ENSP00000352154:R4182I	ENSP00000340554:R4249I	R	-	2	0	TTN	179312946	0.338000	0.24775	1.000000	0.80357	0.489000	0.33432	1.718000	0.38001	1.365000	0.46057	-0.150000	0.13652	AGA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	47	1	0	9.17885e-22	1	1.27125e-21	34	47				
SUSD2	56241	broad.mit.edu	37	22	24579121	24579121	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24579121T>G	ENST00000358321.3	+	2	434	c.173T>G	c.(172-174)tTc>tGc	p.F58C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	58	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TGCTTGGATTTCCGGGACTTC	0.617																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(172-174)tTc>tGc		sushi domain containing 2							128.0	137.0	134.0					22																	24579121		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579121T>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.173T>G	22.37:g.24579121T>G	ENSP00000351075:p.Phe58Cys						p.F58C	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			2	434	+			58			SMB.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.173T>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127212	0.56721	.	.	ENSG00000099994	ENST00000358321	T	0.55760	0.5	3.76	2.63	0.31362	Somatomedin B domain (4);	0.250002	0.34223	N	0.004145	T	0.56381	0.1981	L	0.60455	1.87	0.27251	N	0.958883	D	0.58620	0.983	P	0.57371	0.819	T	0.44697	-0.9311	10	0.38643	T	0.18	-11.352	6.1807	0.20470	0.3402:0.0:0.0:0.6598	.	58	Q9UGT4	SUSD2_HUMAN	C	58	ENSP00000351075:F58C	ENSP00000351075:F58C	F	+	2	0	SUSD2	22909121	0.044000	0.20184	0.014000	0.15608	0.903000	0.53119	2.966000	0.49208	1.747000	0.51819	0.369000	0.22263	TTC		0.617	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		21	112	0	0	0	1	0	21	112				
MTFMT	123263	broad.mit.edu	37	15	65295412	65295412	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65295412T>C	ENST00000220058.4	-	9	1171	c.1158A>G	c.(1156-1158)caA>caG	p.Q386Q		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	386						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ACTCAATGCATTGTTGCATAG	0.323																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.(1156-1158)caA>caG		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						101.0	89.0	92.0					15																	65295412		1820	4079	5899	SO:0001819	synonymous_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65295412T>C	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.1158A>G	15.37:g.65295412T>C							p.Q386Q	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN			9	1171	-			386					B7Z734	Silent	SNP	ENST00000220058.4	37	c.1158A>G	CCDS45280.1																																																																																				0.323	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		6	27	0	0	0	1	0	6	27				
TMPO	7112	broad.mit.edu	37	12	98941517	98941517	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:98941517A>C	ENST00000556029.1	+	9	1602	c.1246A>C	c.(1246-1248)Aaa>Caa	p.K416Q	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Missense_Mutation_p.K376Q|TMPO_ENST00000393053.2_Missense_Mutation_p.K307Q	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	416						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGTATGGATAAAAATTTTGCT	0.368																																						ENST00000556029.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1246-1248)Aaa>Caa		thymopoietin							127.0	129.0	128.0					12																	98941517		2203	4300	6503	SO:0001583	missense	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98941517A>C		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1246A>C	12.37:g.98941517A>C	ENSP00000450627:p.Lys416Gln					TMPO_ENST00000393053.2_Missense_Mutation_p.K307Q|TMPO_ENST00000343315.5_Missense_Mutation_p.K376Q|TMPO_ENST00000548223.1_3'UTR	p.K416Q	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN			9	1602	+			416					A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1246A>C	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.547798	0.27652	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053	T;T;T	0.64618	0.34;0.33;-0.11	5.59	5.59	0.84812	.	.	.	.	.	T	0.70439	0.3224	L	0.37750	1.13	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.991;0.994	T	0.67461	-0.5665	9	0.29301	T	0.29	.	16.0668	0.80887	1.0:0.0:0.0:0.0	.	340;416	Q59G12;P42167	.;LAP2B_HUMAN	Q	416;376;307	ENSP00000450627:K416Q;ENSP00000340251:K376Q;ENSP00000376773:K307Q	ENSP00000340251:K416Q	K	+	1	0	TMPO	97465648	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.936000	0.63506	2.246000	0.74042	0.533000	0.62120	AAA		0.368	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		29	47	0	0	0	1	0	29	47				
IGSF10	285313	broad.mit.edu	37	3	151165867	151165867	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151165867C>A	ENST00000282466.3	-	4	1901	c.1902G>T	c.(1900-1902)caG>caT	p.Q634H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	634	Ig-like C2-type 2.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCGGGGTGACCTGTAATATTC	0.408																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1900-1902)caG>caT		immunoglobulin superfamily, member 10							177.0	158.0	164.0					3																	151165867		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165867C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1902G>T	3.37:g.151165867C>A	ENSP00000282466:p.Gln634His						p.Q634H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1901	-			634			Ig-like C2-type 2.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1902G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	2.994	-0.207516	0.06180	.	.	ENSG00000152580	ENST00000282466	T	0.27557	1.66	5.35	1.45	0.22620	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.499587	0.16462	N	0.213364	T	0.15912	0.0383	N	0.16903	0.455	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.16600	-1.0397	10	0.36615	T	0.2	.	5.6761	0.17749	0.0:0.4897:0.2547:0.2556	.	634	Q6WRI0	IGS10_HUMAN	H	634	ENSP00000282466:Q634H	ENSP00000282466:Q634H	Q	-	3	2	IGSF10	152648557	0.003000	0.15002	0.020000	0.16555	0.223000	0.24884	-0.267000	0.08619	0.610000	0.30035	-0.137000	0.14449	CAG		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		18	51	1	0	6.94344e-10	1	8.4399e-10	18	51				
FERMT1	55612	broad.mit.edu	37	20	6057898	6057898	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6057898G>T	ENST00000217289.4	-	15	2744	c.1956C>A	c.(1954-1956)ttC>ttA	p.F652L	FERMT1_ENST00000536936.1_Missense_Mutation_p.F395L|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	652	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GGGTGGACAAGAAAATGTAGC	0.507											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1954-1956)ttC>ttA		fermitin family member 1							87.0	74.0	79.0					20																	6057898		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6057898G>T	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1956C>A	20.37:g.6057898G>T	ENSP00000217289:p.Phe652Leu		OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	631	FERMT1_ENST00000536936.1_Missense_Mutation_p.F395L|FERMT1_ENST00000478194.1_5'UTR	p.F652L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			15	2744	-			652			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1956C>A	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648213	0.87958	.	.	ENSG00000101311	ENST00000217289;ENST00000536936	T;T	0.38077	1.16;1.16	5.78	3.85	0.44370	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65668	-0.6112	10	0.66056	D	0.02	-15.9864	9.5127	0.39087	0.2131:0.0:0.7869:0.0	.	652	Q9BQL6	FERM1_HUMAN	L	652;395	ENSP00000217289:F652L;ENSP00000441063:F395L	ENSP00000217289:F652L	F	-	3	2	FERMT1	6005898	1.000000	0.71417	0.952000	0.39060	0.984000	0.73092	4.118000	0.57884	0.804000	0.34136	0.655000	0.94253	TTC		0.507	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		21	47	1	0	1.2644e-06	1	1.4261e-06	21	47				
LRP2	4036	broad.mit.edu	37	2	170094769	170094769	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170094769A>C	ENST00000263816.3	-	27	4623	c.4338T>G	c.(4336-4338)atT>atG	p.I1446M		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1446					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGTCGGCAATAATTTTGTTCT	0.383																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4336-4338)atT>atG		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						77.0	73.0	74.0					2																	170094769		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170094769A>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4338T>G	2.37:g.170094769A>C	ENSP00000263816:p.Ile1446Met						p.I1446M	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	27	4623	-			1446					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4338T>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606267	0.46527	.	.	ENSG00000081479	ENST00000263816	D	0.94046	-3.34	5.19	-5.32	0.02722	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.93661	0.7975	M	0.87456	2.885	0.80722	D	1	D	0.54964	0.969	P	0.52856	0.711	D	0.91286	0.5055	10	0.87932	D	0	.	8.5655	0.33536	0.3946:0.0:0.4897:0.1156	.	1446	P98164	LRP2_HUMAN	M	1446	ENSP00000263816:I1446M	ENSP00000263816:I1446M	I	-	3	3	LRP2	169803015	0.000000	0.05858	0.029000	0.17559	0.331000	0.28603	-0.231000	0.09069	-0.564000	0.06070	-0.290000	0.09829	ATT		0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		11	26	0	0	0	1	0	11	26				
FNDC3B	64778	broad.mit.edu	37	3	171830294	171830294	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:171830294G>A	ENST00000336824.4	+	2	124	c.25G>A	c.(25-27)Gac>Aac	p.D9N	FNDC3B_ENST00000415807.2_Missense_Mutation_p.D9N|FNDC3B_ENST00000423424.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000392699.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000421757.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D9N	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	9					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GATGATGACCGACCAAATCCC	0.493																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(25-27)Gac>Aac		fibronectin type III domain containing 3B							161.0	137.0	145.0					3																	171830294		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:171830294G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.25G>A	3.37:g.171830294G>A	ENSP00000338523:p.Asp9Asn					FNDC3B_ENST00000392699.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D9N|FNDC3B_ENST00000421757.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000423424.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D9N	p.D9N	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	2	124	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		9					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.25G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589918	0.96590	.	.	ENSG00000075420	ENST00000421757;ENST00000415807;ENST00000392699;ENST00000336824;ENST00000423424;ENST00000416957	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.59889	0.865	T	0.50215	-0.8854	10	0.66056	D	0.02	-23.4665	19.5832	0.95478	0.0:0.0:1.0:0.0	.	9	Q53EP0	FND3B_HUMAN	N	9	ENSP00000408496:D9N;ENSP00000411242:D9N;ENSP00000376463:D9N;ENSP00000338523:D9N;ENSP00000392471:D9N;ENSP00000389094:D9N	ENSP00000338523:D9N	D	+	1	0	FNDC3B	173312988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.625000	0.88918	0.561000	0.74099	GAC		0.493	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		17	36	0	0	0	1	0	17	36				
CCAR1	55749	broad.mit.edu	37	10	70546342	70546342	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70546342C>T	ENST00000265872.6	+	21	2892	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L	CCAR1_ENST00000543719.1_Silent_p.L910L|CCAR1_ENST00000535016.1_Silent_p.L910L	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	925					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TAACAGAGATCTGTTAATGGC	0.299																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(2773-2775)Ctg>Ttg		cell division cycle and apoptosis regulator 1							74.0	73.0	73.0					10																	70546342		2203	4295	6498	SO:0001819	synonymous_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70546342C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2773C>T	10.37:g.70546342C>T						CCAR1_ENST00000543719.1_Silent_p.L910L|CCAR1_ENST00000535016.1_Silent_p.L910L	p.L925L	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			21	2892	+			925					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	c.2773C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901926	0.17760	.	.	ENSG00000060339	ENST00000543706	.	.	.	5.47	4.57	0.56435	.	.	.	.	.	T	0.70272	0.3205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69953	-0.5005	4	.	.	.	-8.1056	14.727	0.69351	0.0:0.9299:0.0:0.0701	.	.	.	.	F	214	.	.	S	+	2	0	CCAR1	70216348	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.599000	0.61076	1.429000	0.47314	0.655000	0.94253	TCT		0.299	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		9	17	0	0	0	1	0	9	17				
HECTD1	25831	broad.mit.edu	37	14	31585633	31585633	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31585633G>A	ENST00000399332.1	-	30	5915	c.5427C>T	c.(5425-5427)gtC>gtT	p.V1809V	HECTD1_ENST00000553700.1_Silent_p.V1809V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1809					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GAGTACATTCGACTTCTTCCA	0.418																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(5425-5427)gtC>gtT		HECT domain containing E3 ubiquitin protein ligase 1							87.0	82.0	83.0					14																	31585633		1846	4093	5939	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31585633G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5427C>T	14.37:g.31585633G>A						HECTD1_ENST00000553700.1_Silent_p.V1809V	p.V1809V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	30	5915	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1809					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.5427C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867232	0.17250	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.44	-7.11	0.01542	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39663	-0.9603	4	.	.	.	-13.1592	1.8957	0.03257	0.3955:0.0823:0.2831:0.2391	.	.	.	.	L	175	.	.	S	-	2	0	HECTD1	30655384	0.605000	0.26941	0.901000	0.35422	0.946000	0.59487	-0.042000	0.12063	-1.251000	0.02494	-1.608000	0.00805	TCG		0.418	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			22	31	0	0	0	1	0	22	31				
ZFAND5	7763	broad.mit.edu	37	9	74975687	74975687	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:74975687T>G	ENST00000237937.3	-	2	565	c.8A>C	c.(7-9)cAg>cCg	p.Q3P	ZFAND5_ENST00000376962.5_Missense_Mutation_p.Q3P|ZFAND5_ENST00000343431.2_Missense_Mutation_p.Q3P|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.Q3P	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	3					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTTAGTCTCCTGAGCCATATT	0.388																																						ENST00000237937.3																			0				cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(7-9)cAg>cCg		zinc finger, AN1-type domain 5							79.0	85.0	83.0					9																	74975687		2203	4299	6502	SO:0001583	missense	0						DNA binding|zinc ion binding	g.chr9:74975687T>G	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.8A>C	9.37:g.74975687T>G	ENSP00000237937:p.Gln3Pro					ZFAND5_ENST00000376960.4_Missense_Mutation_p.Q3P|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Missense_Mutation_p.Q3P|ZFAND5_ENST00000343431.2_Missense_Mutation_p.Q3P	p.Q3P	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			2	565	-			3					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.8A>C	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156289	0.78114	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.84442	0.0583	9	0.87932	D	0	-3.8455	16.0469	0.80725	0.0:0.0:0.0:1.0	.	3	O76080	ZFAN5_HUMAN	P	3;3;3;3;55	.	ENSP00000237937:Q3P	Q	-	2	0	ZFAND5	74165507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.194000	0.70268	0.460000	0.39030	CAG		0.388	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			5	99	0	0	0	1	0	5	99				
CNTNAP2	26047	broad.mit.edu	37	7	147869473	147869473	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:147869473A>C	ENST00000361727.3	+	18	3429	c.2913A>C	c.(2911-2913)ggA>ggC	p.G971G	CNTNAP2_ENST00000538075.1_Silent_p.G30G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	971	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGCTATGGAACAAACTGTG	0.473										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2911-2913)ggA>ggC		contactin associated protein-like 2							132.0	127.0	129.0					7																	147869473		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869473A>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2913A>C	7.37:g.147869473A>C		HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Silent_p.G30G	p.G971G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3429	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	971			EGF-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2913A>C	CCDS5889.1																																																																																				0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			25	57	0	0	0	1	0	25	57				
PTPN13	5783	broad.mit.edu	37	4	87684331	87684331	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87684331A>C	ENST00000411767.2	+	24	4068	c.4005A>C	c.(4003-4005)caA>caC	p.Q1335H	PTPN13_ENST00000316707.6_Missense_Mutation_p.Q1144H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Q1316H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Q1335H|PTPN13_ENST00000436978.1_Missense_Mutation_p.Q1335H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1335					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGATCATCAAACACCAAAAC	0.358																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4003-4005)caA>caC		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							102.0	100.0	100.0					4																	87684331		1882	4121	6003	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87684331A>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4005A>C	4.37:g.87684331A>C	ENSP00000407249:p.Gln1335His					PTPN13_ENST00000411767.2_Missense_Mutation_p.Q1335H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Q1316H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Q1335H|PTPN13_ENST00000316707.6_Missense_Mutation_p.Q1144H	p.Q1335H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	24	4485	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1335					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.4005A>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	a	12.63	1.995019	0.35226	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.54675	0.57;0.63;0.68;0.56;0.63	5.45	-8.15	0.01065	.	0.677027	0.12453	N	0.467600	T	0.25901	0.0631	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.11235	0.003;0.004;0.0;0.001	B;B;B;B	0.11329	0.006;0.002;0.0;0.001	T	0.08146	-1.0736	10	0.45353	T	0.12	.	5.0157	0.14335	0.2395:0.1809:0.4814:0.0982	.	1144;1316;1335;1335	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	1316;1335;1144;1335;1335;1284	ENSP00000408368:Q1316H;ENSP00000394794:Q1335H;ENSP00000322675:Q1144H;ENSP00000407249:Q1335H;ENSP00000426626:Q1335H	ENSP00000322675:Q1144H	Q	+	3	2	PTPN13	87903355	0.000000	0.05858	0.014000	0.15608	0.977000	0.68977	-1.235000	0.02928	-1.783000	0.01274	0.524000	0.50904	CAA		0.358	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			26	81	0	0	0	1	0	26	81				
LYSMD3	116068	broad.mit.edu	37	5	89814938	89814938	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89814938C>A	ENST00000315948.6	-	3	763	c.619G>T	c.(619-621)Gac>Tac	p.D207Y	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_3'UTR	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	207						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TAATAGGGGTCTTTACGTTGA	0.393																																						ENST00000315948.6																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(619-621)Gac>Tac		LysM, putative peptidoglycan-binding, domain containing 3							209.0	194.0	199.0					5																	89814938		1897	4118	6015	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89814938C>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.619G>T	5.37:g.89814938C>A	ENSP00000314518:p.Asp207Tyr					LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_3'UTR	p.D207Y	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	763	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	207					Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.619G>T	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996780	0.74818	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.17054	2.3	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.18398	-1.0338	10	0.51188	T	0.08	-24.9118	19.8807	0.96899	0.0:1.0:0.0:0.0	.	207	Q7Z3D4	LYSM3_HUMAN	Y	207	ENSP00000314518:D207Y	ENSP00000314518:D207Y	D	-	1	0	AC027323.1;LYSMD3	89850694	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	7.463000	0.80869	2.692000	0.91855	0.591000	0.81541	GAC		0.393	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		10	97	1	0	6.40141e-05	1	6.95424e-05	10	97				
ZNF181	339318	broad.mit.edu	37	19	35232056	35232056	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35232056G>T	ENST00000492450.1	+	4	859	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ZNF181_ENST00000459757.2_Missense_Mutation_p.R256I|ZNF181_ENST00000392232.3_Missense_Mutation_p.R301I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	257					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CGCCACTGGAGAATTCATACA	0.448																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(901-903)aGa>aTa		zinc finger protein 181							90.0	102.0	98.0					19																	35232056		2200	4297	6497	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232056G>T	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.770G>T	19.37:g.35232056G>T	ENSP00000420727:p.Arg257Ile					ZNF181_ENST00000459757.1_Missense_Mutation_p.R256I|ZNF181_ENST00000492450.1_Missense_Mutation_p.R257I	p.R301I			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1070	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		257					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.902G>T	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341588	0.41498	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.24908	1.83;1.83;1.83	2.89	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44705	0.1306	M	0.83852	2.665	0.37040	D	0.897097	P;D	0.60575	0.67;0.988	B;D	0.65443	0.148;0.935	T	0.48210	-0.9055	9	0.45353	T	0.12	.	4.9285	0.13905	0.2833:0.0:0.7167:0.0	.	256;257	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	I	301;256;257;256	ENSP00000376065:R301I;ENSP00000420727:R257I;ENSP00000419435:R256I	ENSP00000376065:R301I	R	+	2	0	ZNF181	39923896	0.990000	0.36364	0.990000	0.47175	0.882000	0.50991	0.857000	0.27831	0.783000	0.33636	0.491000	0.48974	AGA		0.448	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		63	78	1	0	1.48873e-21	1	2.05779e-21	63	78				
VPS52	6293	broad.mit.edu	37	6	33235673	33235673	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:33235673C>T	ENST00000445902.2	-	9	1120	c.902G>A	c.(901-903)cGc>cAc	p.R301H	VPS52_ENST00000436044.2_Missense_Mutation_p.R176H|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	301					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CAGGTAAGAGCGGTAGTAAGA	0.527																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(901-903)cGc>cAc		vacuolar protein sorting 52 homolog (S. cerevisiae)							148.0	145.0	146.0					6																	33235673		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33235673C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.902G>A	6.37:g.33235673C>T	ENSP00000409952:p.Arg301His					VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R176H|VPS52_ENST00000482399.1_3'UTR	p.R301H	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			9	1120	-			301					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.902G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514955	0.85389	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.87	4.87	0.63330	.	0.060794	0.64402	D	0.000005	T	0.44138	0.1279	N	0.25332	0.735	0.40876	D	0.983958	D;D;D	0.69078	0.997;0.988;0.997	P;P;P	0.61070	0.883;0.703;0.883	T	0.49986	-0.8880	9	0.72032	D	0.01	-12.7608	9.3119	0.37910	0.0:0.9043:0.0:0.0957	.	279;176;301	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	H	301;279;176	.	ENSP00000414785:R279H	R	-	2	0	VPS52	33343651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.010000	0.57117	2.723000	0.93209	0.579000	0.79373	CGC		0.527	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		74	30	0	0	0	1	0	74	30				
SNRPA1	6627	broad.mit.edu	37	15	101832242	101832242	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101832242A>G	ENST00000254193.6	-	3	306	c.234T>C	c.(232-234)cgT>cgC	p.R78R	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	78					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTCACCTATACGGCTAAAAT	0.388																																						ENST00000254193.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(232-234)cgT>cgC		small nuclear ribonucleoprotein polypeptide A'							116.0	124.0	121.0					15																	101832242		2203	4300	6503	SO:0001819	synonymous_variant	6627					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101832242A>G	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.234T>C	15.37:g.101832242A>G						SNRPA1_ENST00000560856.1_5'UTR	p.R78R	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	306	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		78					B2R5I6|Q8TBD2	Silent	SNP	ENST00000254193.6	37	c.234T>C	CCDS10391.1																																																																																				0.388	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		56	91	0	0	0	1	0	56	91				
DSG4	147409	broad.mit.edu	37	18	28979455	28979455	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28979455G>A	ENST00000308128.4	+	9	1361	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.G409D	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATGTGCTTGGCACATATACA	0.398																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1225-1227)gGc>gAc		desmoglein 4							118.0	117.0	117.0					18																	28979455		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28979455G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1226G>A	18.37:g.28979455G>A	ENSP00000311859:p.Gly409Asp					RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G409D|RP11-534N16.1_ENST00000581856.1_RNA	p.G409D	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		9	1255	+			409			Cadherin 4.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1226G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782935	0.70222	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54071	0.59;0.59	5.33	5.33	0.75918	Cadherin (3);Cadherin-like (1);	0.000000	0.35436	N	0.003201	T	0.73953	0.3653	M	0.83118	2.625	0.42593	D	0.993257	D;D	0.89917	1.0;0.989	D;D	0.97110	1.0;0.978	T	0.77611	-0.2523	10	0.66056	D	0.02	.	14.2577	0.66062	0.0:0.0:0.851:0.149	.	409;409	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	D	409	ENSP00000311859:G409D;ENSP00000352785:G409D	ENSP00000311859:G409D	G	+	2	0	DSG4	27233453	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.503000	0.60407	2.649000	0.89929	0.650000	0.86243	GGC		0.398	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		34	57	0	0	0	1	0	34	57				
RPS7	6201	broad.mit.edu	37	2	3628443	3628443	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3628443A>G	ENST00000304921.5	+	7	720	c.556A>G	c.(556-558)Aat>Gat	p.N186D	RPS7_ENST00000406376.1_Missense_Mutation_p.N186D|RPS7_ENST00000403564.1_Missense_Mutation_p.N186D|SNORA73_ENST00000516722.1_RNA	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	186					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CAAGGATGTTAATTTTGAATT	0.303																																						ENST00000304921.5																			0				endometrium(1)|lung(2)|urinary_tract(1)	4						c.(556-558)Aat>Gat		ribosomal protein S7							87.0	87.0	87.0					2																	3628443		2202	4297	6499	SO:0001583	missense	6201				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:3628443A>G		CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"""S ribosomal proteins"""	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.556A>G	2.37:g.3628443A>G	ENSP00000339095:p.Asn186Asp					RPS7_ENST00000406376.1_Missense_Mutation_p.N186D|RPS7_ENST00000403564.1_Missense_Mutation_p.N186D	p.N186D	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)	7	720	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		186					P23821|P24818|Q57Z92|Q6IPH1	Missense_Mutation	SNP	ENST00000304921.5	37	c.556A>G	CCDS1648.1	.	.	.	.	.	.	.	.	.	.	A	9.496	1.101832	0.20632	.	.	ENSG00000171863	ENST00000304921;ENST00000403564;ENST00000406376	.	.	.	4.6	4.6	0.57074	.	0.193646	0.43416	D	0.000573	T	0.45796	0.1360	M	0.72118	2.19	0.20703	N	0.999863	B	0.29671	0.254	B	0.36186	0.219	T	0.38845	-0.9642	9	0.28530	T	0.3	.	5.8311	0.18581	0.8006:0.0:0.1994:0.0	.	186	P62081	RS7_HUMAN	D	186	.	ENSP00000339095:N186D	N	+	1	0	RPS7	3606318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.563000	0.53784	1.835000	0.53391	0.533000	0.62120	AAT		0.303	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206667.1	NM_001011		8	22	0	0	0	1	0	8	22				
POLE	5426	broad.mit.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286			P -> H (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.P286H(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCAGCATCAGGAAACTTGAG	0.493								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			1	Substitution - Missense(1)	p.P286H(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(856-858)cCt>cGt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							115.0	99.0	104.0					12																	133253184		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133253184G>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.857C>G	12.37:g.133253184G>C	ENSP00000322570:p.Pro286Arg					POLE_ENST00000535270.1_Missense_Mutation_p.P259R	p.P286R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	9	900	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	286					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.857C>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974541	0.92919	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83192	-0.0083	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	259;286	F5H1D6;Q07864	.;DPOE1_HUMAN	R	286;297;259;66;221	ENSP00000322570:P286R;ENSP00000406383:P297R;ENSP00000445753:P259R;ENSP00000442519:P66R	ENSP00000322570:P286R	P	-	2	0	POLE	131763257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	CCT		0.493	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		13	29	0	0	0	1	0	13	29				
BPIFA1	51297	broad.mit.edu	37	20	31830330	31830330	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31830330C>A	ENST00000354297.4	+	8	839	c.768C>A	c.(766-768)gtC>gtA	p.V256V	BPIFA1_ENST00000375413.4_Silent_p.V256V|BPIFA1_ENST00000375422.2_Silent_p.V256V	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	256					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TCATCAAGGTCTAAGCCTTCC	0.507																																						ENST00000354297.4																			0											c.(766-768)gtC>gtA		BPI fold containing family A, member 1							116.0	104.0	108.0					20																	31830330		2203	4300	6503	SO:0001819	synonymous_variant	51297				innate immune response	extracellular region	lipid binding	g.chr20:31830330C>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.768C>A	20.37:g.31830330C>A						BPIFA1_ENST00000375413.4_Silent_p.V256V|BPIFA1_ENST00000375422.2_Silent_p.V256V	p.V256V	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			8	839	+			256					A8K9R3|E1P5M9|Q9NZT0	Silent	SNP	ENST00000354297.4	37	c.768C>A	CCDS13217.1																																																																																				0.507	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		13	31	1	0	4.3838e-07	1	4.998e-07	13	31				
LINS	55180	broad.mit.edu	37	15	101109703	101109703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101109703C>A	ENST00000314742.8	-	7	2236	c.2014G>T	c.(2014-2016)Gaa>Taa	p.E672*	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	672										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AGGCTAAATTCTTTTTTATCC	0.438																																						ENST00000314742.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(2014-2016)Gaa>Taa		lines homolog (Drosophila)							87.0	86.0	86.0					15																	101109703		2203	4300	6503	SO:0001587	stop_gained	55180							g.chr15:101109703C>A	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.2014G>T	15.37:g.101109703C>A	ENSP00000318423:p.Glu672*						p.E672*	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN			7	2236	-			672					Q96FW2|Q9NVQ3	Nonsense_Mutation	SNP	ENST00000314742.8	37	c.2014G>T	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	38	6.820134	0.97861	.	.	ENSG00000140471	ENST00000314742	.	.	.	5.9	4.96	0.65561	.	0.659654	0.14943	N	0.289412	.	.	.	.	.	.	0.20703	N	0.999862	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.9507	17.5157	0.87772	0.0:0.8266:0.1734:0.0	.	.	.	.	X	672	.	ENSP00000318423:E672X	E	-	1	0	LINS	98927226	0.001000	0.12720	0.231000	0.23993	0.095000	0.18619	0.795000	0.26972	2.793000	0.96121	0.591000	0.81541	GAA		0.438	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		22	48	1	0	1.55795e-14	1	2.03067e-14	22	48				
DCAF5	8816	broad.mit.edu	37	14	69588977	69588977	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69588977A>C	ENST00000341516.5	-	2	462	c.315T>G	c.(313-315)ttT>ttG	p.F105L	DCAF5_ENST00000389997.6_Missense_Mutation_p.F105L|DCAF5_ENST00000557386.1_Missense_Mutation_p.F105L|DCAF5_ENST00000556847.1_Missense_Mutation_p.F23L|DCAF5_ENST00000554215.1_Missense_Mutation_p.F23L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	105					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AAGCCAGGCAAAAAATGTTGG	0.488																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(313-315)ttT>ttG		DDB1 and CUL4 associated factor 5							146.0	126.0	133.0					14																	69588977		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69588977A>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.315T>G	14.37:g.69588977A>C	ENSP00000341351:p.Phe105Leu					DCAF5_ENST00000554215.1_Missense_Mutation_p.F23L|DCAF5_ENST00000556847.1_Missense_Mutation_p.F23L|DCAF5_ENST00000557386.1_Missense_Mutation_p.F105L|DCAF5_ENST00000389997.6_Missense_Mutation_p.F105L	p.F105L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			2	462	-			105					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.315T>G	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337732	0.60963	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386;ENST00000389997;ENST00000554681	T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7	5.73	2.13	0.27403	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	M	0.78049	2.395	0.58432	D	0.999999	B;D;P;B	0.63046	0.319;0.992;0.472;0.15	B;D;B;B	0.76071	0.128;0.987;0.091;0.063	T	0.27088	-1.0084	10	0.46703	T	0.11	-10.6331	6.8939	0.24245	0.5863:0.0:0.4137:0.0	.	23;105;105;105	G3V3S1;Q8TBB7;G3V4J7;Q96JK2	.;.;.;DCAF5_HUMAN	L	105;23;23;105;105;23	ENSP00000341351:F105L;ENSP00000451551:F23L;ENSP00000452052:F23L;ENSP00000451845:F105L;ENSP00000374647:F105L;ENSP00000451394:F23L	ENSP00000341351:F105L	F	-	3	2	DCAF5	68658730	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.077000	0.30741	0.456000	0.26937	-0.250000	0.11733	TTT		0.488	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		33	57	0	0	0	1	0	33	57				
ARL11	115761	broad.mit.edu	37	13	50204716	50204716	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:50204716G>T	ENST00000282026.1	+	2	468	c.133G>T	c.(133-135)Ggt>Tgt	p.G45C	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	45					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GCCCACTGTTGGTTTCAACGT	0.622																																						ENST00000282026.1																			0				kidney(1)|large_intestine(4)|ovary(1)	6						c.(133-135)Ggt>Tgt		ADP-ribosylation factor-like 11							56.0	56.0	56.0					13																	50204716		2203	4300	6503	SO:0001583	missense	115761				small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	g.chr13:50204716G>T	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.133G>T	13.37:g.50204716G>T	ENSP00000282026:p.Gly45Cys					ARL11_ENST00000490932.1_Intron	p.G45C	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	2	468	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	45						Missense_Mutation	SNP	ENST00000282026.1	37	c.133G>T	CCDS9419.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904158	0.92035	.	.	ENSG00000152213	ENST00000282026	D	0.86497	-2.13	5.31	5.31	0.75309	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96555	0.8876	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98350	1.0543	10	0.87932	D	0	-21.3884	17.9808	0.89140	0.0:0.0:1.0:0.0	.	45	Q969Q4	ARL11_HUMAN	C	45	ENSP00000282026:G45C	ENSP00000282026:G45C	G	+	1	0	ARL11	49102717	1.000000	0.71417	0.832000	0.32986	0.916000	0.54674	9.465000	0.97660	2.487000	0.83934	0.655000	0.94253	GGT		0.622	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		28	56	1	0	4.22769e-11	1	5.2466e-11	28	56				
GPR98	84059	broad.mit.edu	37	5	89948330	89948330	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89948330A>C	ENST00000405460.2	+	19	3680	c.3584A>C	c.(3583-3585)aAa>aCa	p.K1195T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1195	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCCAGATAAAATTCCTGAA	0.338																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(3583-3585)aAa>aCa		G protein-coupled receptor 98							68.0	62.0	64.0					5																	89948330		1848	4097	5945	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89948330A>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3584A>C	5.37:g.89948330A>C	ENSP00000384582:p.Lys1195Thr						p.K1195T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	19	3680	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1195			Calx-beta 9.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3584A>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.63|12.63	1.994663|1.994663	0.35226|0.35226	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.25579|.	1.79|.	6.07|6.07	1.06|1.06	0.20224|0.20224	.|.	0.578345|.	0.20693|.	N|.	0.087422|.	T|.	0.35335|.	0.0928|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B|.	0.23540|.	0.087|.	B|.	0.23419|.	0.046|.	T|.	0.08289|.	-1.0729|.	10|.	0.52906|.	T|.	0.07|.	.|.	2.0281|2.0281	0.03523|0.03523	0.4996:0.1211:0.2625:0.1168|0.4996:0.1211:0.2625:0.1168	.|.	1195|.	Q8WXG9|.	GPR98_HUMAN|.	T|Y	1195|783	ENSP00000384582:K1195T|.	ENSP00000296619:K1195T|.	K|X	+|+	2|3	0|2	GPR98|GPR98	89984086|89984086	1.000000|1.000000	0.71417|0.71417	0.324000|0.324000	0.25361|0.25361	0.740000|0.740000	0.42216|0.42216	1.232000|1.232000	0.32636|0.32636	-0.032000|-0.032000	0.13758|0.13758	-0.446000|-0.446000	0.05623|0.05623	AAA|TAA		0.338	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	19	0	0	0	1	0	16	19				
MACF1	23499	broad.mit.edu	37	1	39801373	39801373	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39801373C>A	ENST00000372915.3	+	36	9215	c.9128C>A	c.(9127-9129)aCt>aAt	p.T3043N	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.T3075N|MACF1_ENST00000564288.1_Missense_Mutation_p.T3038N|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T1478N|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3043					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTCTATTACTTTTAAAATT	0.373																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(9112-9114)aCt>aAt		microtubule-actin crosslinking factor 1							47.0	51.0	50.0					1																	39801373		2202	4299	6501	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801373C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9128C>A	1.37:g.39801373C>A	ENSP00000362006:p.Thr3043Asn					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.T3043N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T1478N|MACF1_ENST00000567887.1_Missense_Mutation_p.T3075N	p.T3038N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	9890	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3043					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.9113C>A		.	.	.	.	.	.	.	.	.	.	C	0.306	-0.970670	0.02232	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.61510	0.1;1.18	5.23	-5.14	0.02875	.	1.803620	0.02858	N	0.129869	T	0.42921	0.1224	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.23574	0.047	T	0.46748	-0.9169	10	0.72032	D	0.01	.	13.9243	0.63952	0.0:0.69:0.0:0.31	.	3043	Q9UPN3	MACF1_HUMAN	N	3043;1478	ENSP00000362006:T3043N;ENSP00000289893:T1478N	ENSP00000289893:T1478N	T	+	2	0	MACF1	39573960	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.567000	0.05916	-0.778000	0.04566	-1.583000	0.00853	ACT		0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	36	1	0	1.02788e-11	1	1.28326e-11	18	36				
DCTN5	84516	broad.mit.edu	37	16	23672543	23672543	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23672543T>G	ENST00000300087.2	+	4	440	c.289T>G	c.(289-291)Tgt>Ggt	p.C97G	DCTN5_ENST00000563998.1_Missense_Mutation_p.C97G|DCTN5_ENST00000568589.1_Missense_Mutation_p.C97G	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	97					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TGAGGAAGATTGTGTGGTCAA	0.413																																						ENST00000300087.2																			0				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10						c.(289-291)Tgt>Ggt		dynactin 5 (p25)							348.0	258.0	288.0					16																	23672543		2197	4300	6497	SO:0001583	missense	84516					centrosome	transferase activity	g.chr16:23672543T>G		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.289T>G	16.37:g.23672543T>G	ENSP00000300087:p.Cys97Gly					DCTN5_ENST00000563998.1_Missense_Mutation_p.C97G|DCTN5_ENST00000568589.1_Missense_Mutation_p.C97G	p.C97G	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	4	440	+			97					A8K9X8|H3BN51|H3BQA4	Missense_Mutation	SNP	ENST00000300087.2	37	c.289T>G	CCDS10615.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179004	0.57692	.	.	ENSG00000166847	ENST00000300087	.	.	.	5.78	5.78	0.91487	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.71206	2.165	0.80722	D	1	P	0.37423	0.594	B	0.33454	0.164	T	0.63120	-0.6708	9	0.66056	D	0.02	-8.5701	14.3442	0.66649	0.0:0.0:0.0:1.0	.	97	Q9BTE1	DCTN5_HUMAN	G	97	.	ENSP00000300087:C97G	C	+	1	0	DCTN5	23580044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.082000	0.76851	2.333000	0.79357	0.533000	0.62120	TGT		0.413	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486		11	35	0	0	0	1	0	11	35				
TRPC6	7225	broad.mit.edu	37	11	101362288	101362288	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:101362288T>G	ENST00000344327.3	-	3	1551	c.1127A>C	c.(1126-1128)aAa>aCa	p.K376T	TRPC6_ENST00000360497.4_Splice_Site_p.K376T|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Splice_Site_p.K376T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	376					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGACCTTACTTTTTTTACTTC	0.403																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.e3+1		transient receptor potential cation channel, subfamily C, member 6							119.0	126.0	123.0					11																	101362288		2203	4299	6502	SO:0001630	splice_region_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101362288T>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1128+1A>C	11.37:g.101362288T>G						TRPC6_ENST00000532133.1_Splice_Site_p.K376_splice|TRPC6_ENST00000360497.4_Splice_Site_p.K376_splice|TRPC6_ENST00000348423.4_Intron	p.K376_splice	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1551	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	376					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Splice_Site	SNP	ENST00000344327.3	37	c.1128_splice	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858374	0.91433	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.73152	-0.72;-0.72;-0.72	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.969;0.997	T	0.83336	-0.0010	10	0.51188	T	0.08	-13.3179	16.806	0.85666	0.0:0.0:0.0:1.0	.	376;376	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	T	376	ENSP00000340913:K376T;ENSP00000435574:K376T;ENSP00000353687:K376T	ENSP00000340913:K376T	K	-	2	0	TRPC6	100867498	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.837000	0.86796	2.367000	0.80283	0.529000	0.55759	AAA		0.403	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	Missense_Mutation	50	80	0	0	0	1	0	50	80				
LOC100505782	100505782	broad.mit.edu	37	17	39567588	39567588	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39567588G>A	ENST00000432258.1	+	0	2046				AC003958.2_ENST00000430006.1_RNA																							CTGGTGCACCGCAAACCTCAC	0.532																																						ENST00000432258.1																			0																																																			0							g.chr17:39567588G>A																													17.37:g.39567588G>A						AC003958.2_ENST00000430006.1_RNA								0	2046	+									RNA	SNP	ENST00000432258.1	37																																																																																						0.532	AC003958.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000257900.2			9	19	0	0	0	1	0	9	19				
KIZ-AS1	101929591	broad.mit.edu	37	20	21142658	21142658	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:21142658G>T	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AGCCCACAAAGAACTTTTCAA	0.453																																						ENST00000591761.1																			0																				73.0	71.0	72.0					20																	21142658		1937	4144	6081			0							g.chr20:21142658G>T																													20.37:g.21142658G>T						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.453	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			17	28	1	0	1.15088e-07	1	1.32965e-07	17	28				
VPS13B	157680	broad.mit.edu	37	8	100568745	100568745	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100568745G>T	ENST00000358544.2	+	31	4999	c.4888G>T	c.(4888-4890)Gat>Tat	p.D1630Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.D1605Y|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1630					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATACCAAATAGATCTGCAGTC	0.408																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4888-4890)Gat>Tat		vacuolar protein sorting 13 homolog B (yeast)							81.0	74.0	77.0					8																	100568745		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100568745G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4888G>T	8.37:g.100568745G>T	ENSP00000351346:p.Asp1630Tyr					VPS13B_ENST00000357162.2_Missense_Mutation_p.D1605Y|VPS13B_ENST00000395996.1_3'UTR	p.D1630Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		31	4999	+	Breast(36;3.73e-07)		1630					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4888G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842681	0.91197	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70399	-0.48;-0.46	5.73	5.73	0.89815	.	0.111812	0.56097	D	0.000026	D	0.83926	0.5360	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83952	0.0317	10	0.59425	D	0.04	.	19.8897	0.96925	0.0:0.0:1.0:0.0	.	1605;1630	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Y	1605;1630	ENSP00000349685:D1605Y;ENSP00000351346:D1630Y	ENSP00000349685:D1605Y	D	+	1	0	VPS13B	100637921	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.547000	0.98100	2.709000	0.92574	0.650000	0.86243	GAT		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		14	22	1	0	1.3612e-06	1	1.53357e-06	14	22				
MBD5	55777	broad.mit.edu	37	2	149220204	149220204	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149220204C>T	ENST00000407073.1	+	7	1164	c.167C>T	c.(166-168)aCt>aTt	p.T56I	MBD5_ENST00000404807.1_Missense_Mutation_p.T56I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	56	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TACCTGCTTACTGATGGAACA	0.353																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(166-168)aCt>aTt		methyl-CpG binding domain protein 5							140.0	135.0	137.0					2																	149220204		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149220204C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.167C>T	2.37:g.149220204C>T	ENSP00000386049:p.Thr56Ile					MBD5_ENST00000404807.1_Missense_Mutation_p.T56I	p.T56I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	7	1164	+			56			MBD.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.167C>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545329	0.86022	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.54479	0.59;0.57	5.83	5.83	0.93111	Methyl-CpG DNA binding (1);	0.000000	0.64402	D	0.000006	T	0.72518	0.3470	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.73193	-0.4060	10	0.87932	D	0	-7.9962	20.1338	0.98010	0.0:1.0:0.0:0.0	.	56	Q9P267	MBD5_HUMAN	I	56	ENSP00000386049:T56I;ENSP00000384672:T56I	ENSP00000384672:T56I	T	+	2	0	MBD5	148936674	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.770000	0.85390	2.770000	0.95276	0.655000	0.94253	ACT		0.353	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			12	41	0	0	0	1	0	12	41				
DDR1	780	broad.mit.edu	37	6	30859254	30859254	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30859254C>T	ENST00000324771.8	+	8	1211	c.663C>T	c.(661-663)ggC>ggT	p.G221G	DDR1_ENST00000376568.3_Silent_p.G221G|DDR1_ENST00000376569.3_Silent_p.G221G|DDR1_ENST00000513240.1_Silent_p.G221G|DDR1_ENST00000454612.2_Silent_p.G221G|DDR1_ENST00000508312.1_Silent_p.G239G|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Silent_p.G221G|DDR1_ENST00000418800.2_Silent_p.G221G|DDR1_ENST00000376567.2_Silent_p.G221G|DDR1_ENST00000376570.4_Silent_p.G221G|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000452441.1_Silent_p.G221G|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000361741.4_5'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	221	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ATACCGTGGGCGGGTAAGAAA	0.557																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(661-663)ggC>ggT		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						54.0	49.0	51.0					6																	30859254		1510	2708	4218	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30859254C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.663C>T	6.37:g.30859254C>T						DDR1_ENST00000446312.1_Intron|DDR1_ENST00000452441.1_Silent_p.G221G|DDR1_ENST00000376568.3_Silent_p.G221G|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.G221G|DDR1_ENST00000513240.1_Silent_p.G221G|DDR1_ENST00000376567.2_Silent_p.G221G|DDR1_ENST00000454612.2_Silent_p.G221G|DDR1_ENST00000508312.1_Silent_p.G239G|DDR1_ENST00000376575.3_Silent_p.G221G|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000376569.3_Silent_p.G221G|DDR1_ENST00000418800.2_Silent_p.G221G	p.G221G			Q08345	DDR1_HUMAN			8	1211	+			221					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.663C>T	CCDS34385.1																																																																																				0.557	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		25	7	0	0	0	1	0	25	7				
CLEC17A	388512	broad.mit.edu	37	19	14705455	14705455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14705455G>T	ENST00000417570.1	+	6	360	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CLEC17A_ENST00000547437.1_Nonsense_Mutation_p.E108*|CLEC17A_ENST00000397439.2_Nonsense_Mutation_p.E91*	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	108						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										AAAGGAAACAGAGAAACCCCC	0.572																																						ENST00000547437.1																			0											c.(322-324)Gag>Tag		C-type lectin domain family 17, member A							87.0	87.0	87.0					19																	14705455		1940	4149	6089	SO:0001587	stop_gained	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14705455G>T	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.322G>T	19.37:g.14705455G>T	ENSP00000393719:p.Glu108*					CLEC17A_ENST00000417570.1_Nonsense_Mutation_p.E108*|CLEC17A_ENST00000397439.2_Nonsense_Mutation_p.E91*	p.E108*	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			6	399	+			108					A8MX68|B2RTX0|B7ZMM4	Nonsense_Mutation	SNP	ENST00000417570.1	37	c.322G>T	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	g	16.12	3.031914	0.54790	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	.	.	.	3.06	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-29.4539	5.6997	0.17875	0.2051:0.0:0.7949:0.0	.	.	.	.	X	108;91;108	.	ENSP00000341620:E108X	E	+	1	0	CLEC17A	14566455	0.804000	0.28969	0.014000	0.15608	0.022000	0.10575	1.058000	0.30504	0.436000	0.26393	0.450000	0.29827	GAG		0.572	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		23	59	1	0	7.87624e-14	1	1.01695e-13	23	59				
RASEF	158158	broad.mit.edu	37	9	85611950	85611950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:85611950G>A	ENST00000376447.3	-	14	2157	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	633					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCCATTCTCGTATGTTAAGA	0.373																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1897-1899)Cga>Tga		RAS and EF-hand domain containing							160.0	147.0	151.0					9																	85611950		2203	4300	6503	SO:0001587	stop_gained	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85611950G>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1897C>T	9.37:g.85611950G>A	ENSP00000365630:p.Arg633*						p.R633*	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			14	2157	-			633					A6NC29|Q96N04	Nonsense_Mutation	SNP	ENST00000376447.3	37	c.1897C>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	G	40	8.317961	0.98757	.	.	ENSG00000165105	ENST00000376447	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2908	0.60270	0.0:0.0:0.7372:0.2627	.	.	.	.	X	633	.	ENSP00000365630:R633X	R	-	1	2	RASEF	84801770	0.996000	0.38824	0.978000	0.43139	0.830000	0.47004	2.309000	0.43699	2.681000	0.91329	0.563000	0.77884	CGA		0.373	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		11	26	0	0	0	1	0	11	26				
DNAJC13	23317	broad.mit.edu	37	3	132179159	132179159	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132179159G>T	ENST00000260818.6	+	14	1763	c.1515G>T	c.(1513-1515)aaG>aaT	p.K505N	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	505					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCTCGTCAAAGAAGTTTCTGG	0.308																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(1513-1515)aaG>aaT		DnaJ (Hsp40) homolog, subfamily C, member 13							59.0	63.0	62.0					3																	132179159		2203	4299	6502	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132179159G>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1515G>T	3.37:g.132179159G>T	ENSP00000260818:p.Lys505Asn					DNAJC13_ENST00000486798.1_3'UTR	p.K505N	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			14	1763	+			505					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.1515G>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155497	0.57259	.	.	ENSG00000138246	ENST00000260818	T	0.13778	2.56	5.56	5.56	0.83823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.48362	1.52	0.80722	D	1	B;D	0.60160	0.059;0.987	B;P	0.48598	0.029;0.583	T	0.00391	-1.1769	10	0.34782	T	0.22	.	19.5234	0.95195	0.0:0.0:1.0:0.0	.	505;505	A7E2Y5;O75165	.;DJC13_HUMAN	N	505	ENSP00000260818:K505N	ENSP00000260818:K505N	K	+	3	2	DNAJC13	133661849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.547000	0.73892	2.602000	0.87976	0.563000	0.77884	AAG		0.308	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		14	18	1	0	1.49906e-05	1	1.64923e-05	14	18				
PIGS	94005	broad.mit.edu	37	17	26890915	26890915	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26890915T>G	ENST00000308360.7	-	4	672	c.297A>C	c.(295-297)aaA>aaC	p.K99N	PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000543734.1_Missense_Mutation_p.K38N|PIGS_ENST00000395346.2_Missense_Mutation_p.K91N	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	99					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGCATTTGATTTTCATTTTGT	0.522																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(295-297)aaA>aaC		phosphatidylinositol glycan anchor biosynthesis, class S							151.0	137.0	142.0					17																	26890915		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26890915T>G		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.297A>C	17.37:g.26890915T>G	ENSP00000309430:p.Lys99Asn					PIGS_ENST00000543734.1_Missense_Mutation_p.K38N|PIGS_ENST00000395346.2_Missense_Mutation_p.K91N	p.K99N	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			4	672	-	Lung NSC(42;0.00431)		99					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.297A>C	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.469962	0.43839	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.42513	0.97;0.97;0.97	5.21	1.48	0.22813	.	0.487651	0.24764	N	0.035784	T	0.24661	0.0598	L	0.44542	1.39	0.32647	N	0.519909	P;B	0.35124	0.485;0.43	B;B	0.34301	0.179;0.112	T	0.10590	-1.0623	10	0.17832	T	0.49	-9.7978	0.7332	0.00961	0.155:0.1991:0.2888:0.3571	.	99;91	Q96S52;Q96S52-2	PIGS_HUMAN;.	N	91;99;38	ENSP00000378755:K91N;ENSP00000309430:K99N;ENSP00000438447:K38N	ENSP00000309430:K99N	K	-	3	2	PIGS	23915042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.604000	0.24164	0.836000	0.34901	0.533000	0.62120	AAA		0.522	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		4	124	0	0	0	1	0	4	124				
SPIDR	23514	broad.mit.edu	37	8	48586455	48586455	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:48586455C>A	ENST00000297423.4	+	11	2021	c.1637C>A	c.(1636-1638)tCt>tAt	p.S546Y	SPIDR_ENST00000517693.1_Missense_Mutation_p.S21Y|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S476Y|SPIDR_ENST00000518074.1_Missense_Mutation_p.S486Y	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	546					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											GAAGGGAAGTCTTGCAGCCTG	0.473																																						ENST00000297423.4																			0											c.(1636-1638)tCt>tAt		scaffolding protein involved in DNA repair							116.0	121.0	119.0					8																	48586455		1956	4144	6100	SO:0001583	missense	23514							g.chr8:48586455C>A	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1637C>A	8.37:g.48586455C>A	ENSP00000297423:p.Ser546Tyr					SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.S21Y|SPIDR_ENST00000541342.1_Missense_Mutation_p.S476Y|SPIDR_ENST00000518074.1_Missense_Mutation_p.S486Y	p.S546Y	NM_001080394.2	NP_001073863.1					11	2021	+								B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.1637C>A	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.718088|1.718088	0.30503|0.30503	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000519401|ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362	.|.	.|.	.|.	5.34|5.34	1.38|1.38	0.22167|0.22167	.|.	.|0.556675	.|0.18432	.|N	.|0.141411	T|T	0.39809|0.39809	0.1092|0.1092	L|L	0.53249|0.53249	1.67|1.67	0.26947|0.26947	N|N	0.966111|0.966111	.|P;P;P;P;P;P;P;P	.|0.47191	.|0.834;0.834;0.73;0.891;0.773;0.763;0.834;0.891	.|B;B;B;P;B;P;B;P	.|0.51355	.|0.325;0.325;0.316;0.667;0.165;0.549;0.246;0.667	T|T	0.33523|0.33523	-0.9865|-0.9865	5|9	.|0.02654	.|T	.|1	.|.	8.5481|8.5481	0.33435|0.33435	0.0:0.465:0.4504:0.0847|0.0:0.465:0.4504:0.0847	.|.	.|36;51;486;476;546;235;21;546	.|B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159	.|.;.;.;.;.;.;.;K0146_HUMAN	I|Y	228|546;486;476;51;21;21	.|.	.|ENSP00000297423:S546Y	L|S	+|+	1|2	0|0	KIAA0146|KIAA0146	48749008|48749008	0.677000|0.677000	0.27577|0.27577	0.302000|0.302000	0.25058|0.25058	0.658000|0.658000	0.38924|0.38924	0.279000|0.279000	0.18771|0.18771	-0.027000|-0.027000	0.13873|0.13873	-0.226000|-0.226000	0.12346|0.12346	CTT|TCT		0.473	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		19	44	1	0	1.01871e-10	1	1.25646e-10	19	44				
CD101	9398	broad.mit.edu	37	1	117554504	117554504	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117554504G>A	ENST00000256652.4	+	3	815	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	CD101_ENST00000369470.1_Missense_Mutation_p.E253K	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	253	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAGGCAACGGAATGGATTCA	0.493																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(757-759)Gaa>Aaa		CD101 molecule							67.0	65.0	65.0					1																	117554504		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117554504G>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.757G>A	1.37:g.117554504G>A	ENSP00000256652:p.Glu253Lys					CD101_ENST00000369470.1_Missense_Mutation_p.E253K	p.E253K	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			3	815	+			253			Ig-like C2-type 2.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.757G>A	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503090	0.64298	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.55052	0.54;0.54	5.57	5.57	0.84162	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.72003	0.3407	M	0.85373	2.75	0.47276	D	0.999371	D	0.89917	1.0	D	0.87578	0.998	T	0.76206	-0.3044	10	0.72032	D	0.01	-25.4491	17.0403	0.86487	0.0:0.0:1.0:0.0	.	253	Q93033	IGSF2_HUMAN	K	253	ENSP00000256652:E253K;ENSP00000358482:E253K	ENSP00000256652:E253K	E	+	1	0	CD101	117356027	1.000000	0.71417	0.358000	0.25811	0.272000	0.26649	7.512000	0.81728	2.643000	0.89663	0.591000	0.81541	GAA		0.493	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		11	25	0	0	0	1	0	11	25				
C9orf43	257169	broad.mit.edu	37	9	116187312	116187312	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116187312G>A	ENST00000288462.4	+	9	1267	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	C9orf43_ENST00000374165.1_Missense_Mutation_p.R274Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	274										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CCAGCACTGCGATATCCTGAA	0.408																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(820-822)cGa>cAa		chromosome 9 open reading frame 43							113.0	103.0	106.0					9																	116187312		2203	4300	6503	SO:0001583	missense	257169							g.chr9:116187312G>A	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.821G>A	9.37:g.116187312G>A	ENSP00000288462:p.Arg274Gln					C9orf43_ENST00000374165.1_Missense_Mutation_p.R274Q	p.R274Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			9	1267	+			274						Missense_Mutation	SNP	ENST00000288462.4	37	c.821G>A	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755505	0.69648	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.55413	0.52;0.52	4.11	1.3	0.21679	.	0.169634	0.27866	N	0.017536	T	0.33673	0.0871	L	0.34521	1.04	0.09310	N	1	P	0.52061	0.95	B	0.38954	0.286	T	0.24693	-1.0153	10	0.52906	T	0.07	-5.9478	6.0077	0.19554	0.3177:0.0:0.6823:0.0	.	274	Q8TAL5	CI043_HUMAN	Q	274	ENSP00000363280:R274Q;ENSP00000288462:R274Q	ENSP00000288462:R274Q	R	+	2	0	C9orf43	115227133	0.013000	0.17824	0.012000	0.15200	0.492000	0.33523	0.710000	0.25748	0.297000	0.22615	0.557000	0.71058	CGA		0.408	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		15	18	0	0	0	1	0	15	18				
FLG	2312	broad.mit.edu	37	1	152283914	152283914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152283914G>A	ENST00000368799.1	-	3	3483	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1150	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3448-3450)Cga>Tga		filaggrin							195.0	235.0	221.0					1																	152283914		2203	4296	6499	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283914G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3448C>T	1.37:g.152283914G>A	ENSP00000357789:p.Arg1150*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1150*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3483	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1150			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.3448C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	37	6.443577	0.97572	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.05	-6.11	0.02131	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	1.8586	0.03184	0.1111:0.3099:0.282:0.2969	.	.	.	.	X	1150	.	ENSP00000357789:R1150X	R	-	1	2	FLG	150550538	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-8.221000	0.00023	-1.998000	0.00968	0.186000	0.17326	CGA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	488	0	0	0	1	0	7	488				
COBLL1	22837	broad.mit.edu	37	2	165551180	165551180	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:165551180T>C	ENST00000392717.2	-	13	2954	c.2950A>G	c.(2950-2952)Atg>Gtg	p.M984V	COBLL1_ENST00000342193.4_Missense_Mutation_p.M946V|COBLL1_ENST00000409184.3_Missense_Mutation_p.M946V|COBLL1_ENST00000375458.2_Missense_Mutation_p.M908V|COBLL1_ENST00000194871.6_Missense_Mutation_p.M1013V			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	984						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GAAGGCAGCATATCCCTTTCT	0.468																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2722-2724)Atg>Gtg		cordon-bleu WH2 repeat protein-like 1							51.0	52.0	52.0					2																	165551180		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551180T>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2950A>G	2.37:g.165551180T>C	ENSP00000376478:p.Met984Val					COBLL1_ENST00000409184.3_Missense_Mutation_p.M946V|COBLL1_ENST00000342193.4_Missense_Mutation_p.M946V|COBLL1_ENST00000194871.6_Missense_Mutation_p.M1013V|COBLL1_ENST00000392717.2_Missense_Mutation_p.M984V	p.M908V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2943	-			984					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2722A>G		.	.	.	.	.	.	.	.	.	.	T	0.001	-3.143623	0.00029	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.61	-11.2	0.00127	.	2.870190	0.00888	N	0.002213	T	0.14743	0.0356	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.16247	-1.0409	9	0.28530	T	0.3	14.838	2.32	0.04208	0.1955:0.1882:0.3938:0.2225	.	984;1013;946	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	V	908;946;946;984;1013	.	ENSP00000194871:M1013V	M	-	1	0	COBLL1	165259426	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.381000	0.01065	-3.437000	0.00163	0.533000	0.62120	ATG		0.468	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		13	29	0	0	0	1	0	13	29				
XIRP2	129446	broad.mit.edu	37	2	168099780	168099780	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168099780C>T	ENST00000409195.1	+	9	1967	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.I404I|XIRP2_ENST00000295237.9_Silent_p.I626I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	451					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCCAACCCATCGACACACTTG	0.448																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1876-1878)atC>atT		xin actin-binding repeat containing 2							79.0	82.0	81.0					2																	168099780		1958	4127	6085	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099780C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1878C>T	2.37:g.168099780C>T						XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.I626I|XIRP2_ENST00000409273.1_Silent_p.I404I	p.I626I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1967	+			451					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.1878C>T	CCDS42769.1																																																																																				0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	47	0	0	0	1	0	8	47				
IGLV3-19	28797	broad.mit.edu	37	22	23063591	23063591	+	RNA	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:23063591G>T	ENST00000390309.2	+	0	338									immunoglobulin lambda variable 3-19																		TCAGGCGGAAGATGAGGCTGA	0.522																																						ENST00000390309.2																			0																				59.0	62.0	61.0					22																	23063591		1997	4174	6171			0							g.chr22:23063591G>T	X56178		22q11.2	2012-02-08			ENSG00000211663	ENSG00000211663		"""Immunoglobulins / IGL locus"""	5903	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151226		22.37:g.23063591G>T														0	338	+									RNA	SNP	ENST00000390309.2	37																																																																																						0.522	IGLV3-19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321830.1	NG_000002		17	40	1	0	1.5739e-10	1	1.93697e-10	17	40				
EXOC6B	23233	broad.mit.edu	37	2	72945368	72945368	+	Missense_Mutation	SNP	C	C	T	rs199798987		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:72945368C>T	ENST00000272427.6	-	6	663	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	EXOC6B_ENST00000410104.1_Missense_Mutation_p.R178Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	178					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTTGCAGAATCGATAGTGGCT	0.433																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(532-534)cGa>cAa		exocyst complex component 6B		C	GLN/ARG	1,3881		0,1,1940	143.0	139.0	140.0		533	5.4	1.0	2		140	6,8282		0,6,4138	yes	missense	EXOC6B	NM_015189.1	43	0,7,6078	TT,TC,CC		0.0724,0.0258,0.0575	probably-damaging	178/812	72945368	7,12163	1941	4144	6085	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72945368C>T	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.533G>A	2.37:g.72945368C>T	ENSP00000272427:p.Arg178Gln					EXOC6B_ENST00000410104.1_Missense_Mutation_p.R178Q	p.R178Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			6	663	-			178					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.533G>A	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	36	5.682255	0.96774	2.58E-4	7.24E-4	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	D;D	0.99652	-6.3;-6.3	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.76071	0.921;0.987	D	0.99577	1.0972	10	0.34782	T	0.22	.	17.6989	0.88289	0.0:1.0:0.0:0.0	.	178;178	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	Q	178	ENSP00000272427:R178Q;ENSP00000386698:R178Q	ENSP00000272427:R178Q	R	-	2	0	EXOC6B	72798876	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.506000	0.84524	0.563000	0.77884	CGA		0.433	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		21	38	0	0	0	1	0	21	38				
ZNF254	9534	broad.mit.edu	37	19	24310052	24310052	+	Missense_Mutation	SNP	G	G	A	rs202209095		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24310052G>A	ENST00000357002.4	+	4	1365	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	ZNF254_ENST00000342944.6_Missense_Mutation_p.R332Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	417					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTTTTAATCGATCTTCAAAT	0.358																																						ENST00000357002.4																			0											c.(1249-1251)cGa>cAa		zinc finger protein 254							41.0	44.0	43.0					19																	24310052		2202	4300	6502	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310052G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1250G>A	19.37:g.24310052G>A	ENSP00000349494:p.Arg417Gln					ZNF254_ENST00000342944.6_Missense_Mutation_p.R332Q	p.R417Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1365	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	417					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1250G>A	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.849559	0.00066	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.07444	3.19;3.19	1.07	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02230	0.0069	N	0.12471	0.22	0.09310	N	1	P	0.39443	0.674	B	0.17979	0.02	T	0.26430	-1.0103	9	0.02654	T	1	.	3.4424	0.07468	0.2942:0.0:0.7058:0.0	.	417	O75437	ZN254_HUMAN	Q	332;417	ENSP00000445527:R332Q;ENSP00000349494:R417Q	ENSP00000445527:R332Q	R	+	2	0	ZNF254	24101892	0.000000	0.05858	0.008000	0.14137	0.607000	0.37147	-0.308000	0.08156	0.525000	0.28522	0.298000	0.19748	CGA		0.358	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		16	19	0	0	0	1	0	16	19				
CASP8AP2	9994	broad.mit.edu	37	6	90572627	90572627	+	RNA	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:90572627C>A	ENST00000551025.1	+	0	2636									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATAACATTTTCTCATAATTCA	0.348																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							86.0	83.0	84.0					6																	90572627		1846	4101	5947			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572627C>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572627C>A										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	2636	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.348	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		8	61	1	0	0.00307968	1	0.00320271	8	61				
PAPOLB	56903	broad.mit.edu	37	7	4901062	4901062	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:4901062C>T	ENST00000404991.1	-	1	563	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	126					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAAGTCGCTTCGATCCACATG	0.438																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(376-378)cGa>cAa		poly(A) polymerase beta (testis specific)							78.0	79.0	78.0					7																	4901062		2104	4261	6365	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901062C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.377G>A	7.37:g.4901062C>T	ENSP00000384700:p.Arg126Gln					RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	p.R126Q	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	563	-		Ovarian(82;0.0175)	126					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.377G>A		.	.	.	.	.	.	.	.	.	.	C	13.62	2.292257	0.40594	.	.	ENSG00000218823	ENST00000404991	.	.	.	3.89	3.01	0.34805	.	.	.	.	.	T	0.82250	0.4996	H	0.94808	3.585	0.40607	D	0.981635	D	0.89917	1.0	D	0.97110	1.0	D	0.85324	0.1086	8	0.87932	D	0	.	9.7494	0.40466	0.0:0.8957:0.0:0.1043	.	127	A4D1Z6	.	Q	126	.	ENSP00000384700:R126Q	R	-	2	0	PAPOLB	4867588	1.000000	0.71417	0.014000	0.15608	0.098000	0.18820	5.769000	0.68865	1.240000	0.43803	0.585000	0.79938	CGA		0.438	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		13	20	0	0	0	1	0	13	20				
SLC4A5	57835	broad.mit.edu	37	2	74458402	74458402	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74458402G>T	ENST00000423644.1	-	24	3026	c.2629C>A	c.(2629-2631)Cct>Act	p.P877T	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Silent_p.I936I|SLC4A5_ENST00000346834.4_Silent_p.I936I|SLC4A5_ENST00000359484.4_Silent_p.I834I|SLC4A5_ENST00000377632.1_Silent_p.I936I|SLC4A5_ENST00000357822.5_Silent_p.I936I|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Silent_p.I936I|SLC4A5_ENST00000358683.4_Silent_p.I834I					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTCCCGTCAGGATGAAGACGA	0.557																																						ENST00000423644.1																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2629-2631)Cct>Act		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							176.0	144.0	155.0					2																	74458402		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74458402G>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000423644.1:c.2629C>A	2.37:g.74458402G>T	ENSP00000395804:p.Pro877Thr					SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Silent_p.I936I|SLC4A5_ENST00000377632.1_Silent_p.I936I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.I936I|SLC4A5_ENST00000358683.4_Silent_p.I834I|SLC4A5_ENST00000357822.5_Silent_p.I936I|SLC4A5_ENST00000346834.4_Silent_p.I936I|SLC4A5_ENST00000359484.4_Silent_p.I834I	p.P877T			Q9BY07	S4A5_HUMAN			24	3026	-			23						Missense_Mutation	SNP	ENST00000423644.1	37	c.2629C>A		.	.	.	.	.	.	.	.	.	.	G	16.56	3.158503	0.57368	.	.	ENSG00000188687	ENST00000423644;ENST00000425249	T;T	0.68903	-0.36;-0.09	4.61	3.72	0.42706	.	.	.	.	.	T	0.53110	0.1776	.	.	.	0.22940	N	0.998539	B	0.28713	0.22	B	0.22386	0.039	T	0.49173	-0.8967	8	0.62326	D	0.03	.	7.3027	0.26430	0.1995:0.0:0.8005:0.0	.	839	E7EQT3	.	T	877;839	ENSP00000395804:P877T;ENSP00000405678:P839T	ENSP00000395804:P877T	P	-	1	0	SLC4A5	74311910	0.950000	0.32346	1.000000	0.80357	0.988000	0.76386	0.097000	0.15168	1.121000	0.41925	0.655000	0.94253	CCT		0.557	SLC4A5-204	KNOWN	basic	protein_coding	protein_coding				21	50	1	0	5.26018e-13	1	6.70247e-13	21	50				
GSN	2934	broad.mit.edu	37	9	124062336	124062336	+	Intron	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:124062336C>A	ENST00000373818.4	+	1	213				GSN_ENST00000394353.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000436847.1_De_novo_Start_OutOfFrame	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						ATTGTAAGTTCTTGCAGATAC	0.607																																						ENST00000436847.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21								gelsolin							122.0	117.0	119.0					9																	124062336		1568	3582	5150	SO:0001627	intron_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124062336C>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+53C>A	9.37:g.124062336C>A						GSN_ENST00000373808.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373818.4_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron		NM_001127666.1	NP_001121138.1	P06396	GELS_HUMAN			0	214	+								A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Translation_Start_Site	SNP	ENST00000373818.4	37		CCDS6828.1																																																																																				0.607	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		23	50	1	0	7.87624e-14	1	1.01695e-13	23	50				
PHLDB2	90102	broad.mit.edu	37	3	111603511	111603511	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111603511C>T	ENST00000431670.2	+	2	998	c.587C>T	c.(586-588)tCg>tTg	p.S196L	PHLDB2_ENST00000478922.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S196L|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S223L|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S196L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	196						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATCAGCAGATCGGGAGCCGCA	0.562																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(586-588)tCg>tTg		pleckstrin homology-like domain, family B, member 2							48.0	48.0	48.0					3																	111603511		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603511C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.587C>T	3.37:g.111603511C>T	ENSP00000405405:p.Ser196Leu					PHLDB2_ENST00000412622.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S223L|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S196L|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S196L	p.S196L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	998	+			196					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.587C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836511	0.71373	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.37411	1.2;1.24;1.21;1.28;1.24;1.21	5.61	5.61	0.85477	.	0.394784	0.27151	N	0.020698	T	0.56016	0.1957	L	0.53249	1.67	0.39443	D	0.967282	P;D;D;P;D	0.89917	0.84;1.0;1.0;0.951;0.997	B;D;D;B;P	0.72338	0.129;0.977;0.966;0.32;0.766	T	0.54761	-0.8245	10	0.52906	T	0.07	.	16.9138	0.86146	0.0:1.0:0.0:0.0	.	196;196;196;196;223	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	L	223;223;196;196;196;196;196;196;196	ENSP00000377500:S223L;ENSP00000405405:S196L;ENSP00000405292:S196L;ENSP00000418296:S196L;ENSP00000377502:S196L;ENSP00000418319:S196L	ENSP00000352764:S223L	S	+	2	0	PHLDB2	113086201	0.994000	0.37717	0.511000	0.27724	0.763000	0.43281	3.996000	0.57009	2.813000	0.96785	0.655000	0.94253	TCG		0.562	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		27	52	0	0	0	1	0	27	52				
RAB9BP1	9366	broad.mit.edu	37	5	104435385	104435385	+	lincRNA	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:104435385A>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GTGATTCTGAAGCCTGAGGAT	0.403																																						ENST00000522464.1																			0																																																			0							g.chr5:104435385A>T																													5.37:g.104435385A>T						RP11-6N13.1_ENST00000503650.1_lincRNA								0	68	-									RNA	SNP	ENST00000522464.1	37																																																																																						0.403	CTD-2374C24.1-002	PUTATIVE	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000374820.1			26	46	0	0	0	1	0	26	46				
ATRIP	84126	broad.mit.edu	37	3	48502155	48502155	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48502155T>G	ENST00000320211.3	+	8	1815	c.1702T>G	c.(1702-1704)Ttg>Gtg	p.L568V	ATRIP_ENST00000346691.4_Missense_Mutation_p.L568V|ATRIP_ENST00000357105.6_Missense_Mutation_p.L441V|ATRIP_ENST00000412052.1_Missense_Mutation_p.L475V	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	568					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTAAGGTTTTGGTGAAATT	0.473								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(1423-1425)Ttg>Gtg	Other conserved DNA damage response genes	ATR interacting protein							71.0	73.0	72.0					3																	48502155		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48502155T>G	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1702T>G	3.37:g.48502155T>G	ENSP00000323099:p.Leu568Val					ATRIP_ENST00000357105.6_Missense_Mutation_p.L441V|ATRIP_ENST00000346691.4_Missense_Mutation_p.L568V|ATRIP_ENST00000320211.3_Missense_Mutation_p.L568V	p.L475V	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1885	+			568					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.1423T>G	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.567964	0.65651	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.75821	1.97;-0.97;1.97;1.97	6.08	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	M	0.73962	2.25	0.47245	D	0.999363	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.996	T	0.80430	-0.1386	9	.	.	.	-10.0423	7.4065	0.26993	0.0:0.2379:0.0:0.7621	.	568;568	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	V	568;568;441;475	ENSP00000323099:L568V;ENSP00000302338:L568V;ENSP00000349620:L441V;ENSP00000400930:L475V	.	L	+	1	2	ATRIP	48477159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.677000	0.37576	0.552000	0.29026	0.482000	0.46254	TTG		0.473	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		22	52	0	0	0	1	0	22	52				
CCKAR	886	broad.mit.edu	37	4	26483533	26483533	+	Silent	SNP	G	G	A	rs200960240		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26483533G>A	ENST00000295589.3	-	5	1208	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	338					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.Y338Y(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGTGTCGTAGGCCCGCC	0.597																																						ENST00000295589.3																			1	Substitution - coding silent(1)	p.Y338Y(1)	large_intestine(1)	NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(1012-1014)taC>taT		cholecystokinin A receptor	Ceruletide(DB00403)						101.0	90.0	94.0					4																	26483533		2203	4300	6503	SO:0001819	synonymous_variant	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483533G>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1014C>T	4.37:g.26483533G>A							p.Y338Y	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1208	-		Breast(46;0.0503)	338					B2R9Z5	Silent	SNP	ENST00000295589.3	37	c.1014C>T	CCDS3438.1																																																																																				0.597	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			32	73	0	0	0	1	0	32	73				
PIEZO2	63895	broad.mit.edu	37	18	10671631	10671631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:10671631G>A	ENST00000503781.3	-	52	8151	c.8152C>T	c.(8152-8154)Cga>Tga	p.R2718*	PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.R675*|PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.R510*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.R2743*|PIEZO2_ENST00000302079.6_Nonsense_Mutation_p.R2655*	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2718			R -> L (in DA5). {ECO:0000269|PubMed:24726473}.|R -> P (in DA5). {ECO:0000269|PubMed:24726473}.		cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.R2718R(1)|p.R510R(1)									CCTGTCTCTCGAACTAAAAAA	0.383																																						ENST00000302079.6																			2	Substitution - coding silent(2)	p.R2718R(1)|p.R510R(1)	upper_aerodigestive_tract(2)								c.(7963-7965)Cga>Tga		piezo-type mechanosensitive ion channel component 2							86.0	83.0	84.0					18																	10671631		2203	4300	6503	SO:0001587	stop_gained	63895					integral to membrane	ion channel activity	g.chr18:10671631G>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8152C>T	18.37:g.10671631G>A	ENSP00000421377:p.Arg2718*					PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.R675*|PIEZO2_ENST00000503781.3_Nonsense_Mutation_p.R2718*|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.R510*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.R2743*	p.R2655*			Q9H5I5	PIEZ2_HUMAN			51	7962	-			2718					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Nonsense_Mutation	SNP	ENST00000503781.3	37	c.7963C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.587838	0.98875	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	.	.	.	5.24	3.21	0.36854	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7109	0.69232	0.0:0.0:0.6376:0.3624	.	.	.	.	X	612;2718;675;510	.	ENSP00000285141:R510X	R	-	1	2	FAM38B	10661631	1.000000	0.71417	0.972000	0.41901	0.988000	0.76386	4.630000	0.61297	1.193000	0.43086	0.563000	0.77884	CGA		0.383	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		12	22	0	0	0	1	0	12	22				
UTP14C	9724	broad.mit.edu	37	13	52604309	52604309	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52604309G>A	ENST00000521776.2	+	2	2102	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	457					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.E457K(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGTGCTGTCCGAATTGAGGGC	0.483																																						ENST00000521776.2																			1	Substitution - Missense(1)	p.E457K(1)	large_intestine(1)	breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1369-1371)Gaa>Aaa		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							85.0	89.0	88.0					13																	52604309		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52604309G>A	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1369G>A	13.37:g.52604309G>A	ENSP00000428619:p.Glu457Lys						p.E457K	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	2102	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	457					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.1369G>A	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506827	0.26949	.	.	ENSG00000253797	ENST00000521776	T	0.19669	2.13	2.91	0.999	0.19862	.	0.255939	0.44097	D	0.000500	T	0.16385	0.0394	L	0.58583	1.82	0.09310	N	1	B	0.24258	0.1	B	0.23852	0.049	T	0.18053	-1.0349	9	.	.	.	-8.3867	3.9895	0.09530	0.1497:0.2481:0.6022:0.0	.	457	Q5TAP6	UT14C_HUMAN	K	457	ENSP00000428619:E457K	.	E	+	1	0	UTP14C	51502310	0.000000	0.05858	0.183000	0.23137	0.052000	0.14988	-0.742000	0.04850	0.082000	0.17018	0.462000	0.41574	GAA		0.483	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		50	101	0	0	0	1	0	50	101				
NELL2	4753	broad.mit.edu	37	12	45097553	45097553	+	Missense_Mutation	SNP	C	C	T	rs114802162		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45097553C>T	ENST00000429094.2	-	12	1778	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	NELL2_ENST00000452445.2_Missense_Mutation_p.R425Q|NELL2_ENST00000551601.1_Missense_Mutation_p.R424Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R475Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R424Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R424Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R448Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	425	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R475Q(1)|p.R425Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAAACCATCTCGACAGCTACA	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15632	0.0		0.0	False		,,,				2504	0.0					ENST00000429094.2																			2	Substitution - Missense(2)	p.R475Q(1)|p.R425Q(1)	large_intestine(2)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1273-1275)cGa>cAa		NEL-like 2 (chicken)							93.0	87.0	89.0					12																	45097553		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45097553C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1274G>A	12.37:g.45097553C>T	ENSP00000390680:p.Arg425Gln					NELL2_ENST00000549027.1_Missense_Mutation_p.R424Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R424Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R425Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R448Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R475Q|NELL2_ENST00000551601.1_Missense_Mutation_p.R424Q	p.R425Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	12	1778	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	425			EGF-like 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.1274G>A	CCDS8746.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	15.34|15.34	2.805758|2.805758	0.50421|0.50421	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000550313|ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	.|D;D;T;D;D;D;D	.|0.95622	.|-3.28;-3.28;-0.62;-3.28;-3.28;-2.2;-3.76	5.6|5.6	4.52|4.52	0.55395|0.55395	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.199086	.|0.43416	.|D	.|0.000564	D|D	0.90714|0.90714	0.7086|0.7086	L|L	0.29908|0.29908	0.895|0.895	0.46317|0.46317	D|D	0.998989|0.998989	.|B;B;B;B;B;B	.|0.22146	.|0.019;0.051;0.04;0.016;0.024;0.065	.|B;B;B;B;B;B	.|0.14578	.|0.003;0.011;0.011;0.003;0.003;0.01	D|D	0.86854|0.86854	0.2025|0.2025	5|10	.|0.16420	.|T	.|0.52	-10.4736|-10.4736	15.3805|15.3805	0.74651|0.74651	0.0:0.9222:0.0:0.0778|0.0:0.9222:0.0:0.0778	.|.	.|448;475;424;425;425;424	.|B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.|.;.;.;.;NELL2_HUMAN;.	K|Q	169|424;425;424;425;424;448;475;424	.|ENSP00000378866:R424Q;ENSP00000390680:R425Q;ENSP00000449332:R424Q;ENSP00000394612:R425Q;ENSP00000447927:R424Q;ENSP00000327988:R448Q;ENSP00000416341:R475Q	.|ENSP00000327988:R448Q	E|R	-|-	1|2	0|0	NELL2|NELL2	43383820|43383820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.339000|2.339000	0.43965|0.43965	2.641000|2.641000	0.89580|0.89580	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.393	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		23	41	0	0	0	1	0	23	41				
PTCHD4	442213	broad.mit.edu	37	6	47976683	47976683	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47976683G>T	ENST00000339488.4	-	2	627	c.594C>A	c.(592-594)ttC>ttA	p.F198L	PTCHD4_ENST00000543600.1_Missense_Mutation_p.F181L	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	198						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TAAGCTTACAGAACTCATTCT	0.502																																						ENST00000543600.1																			0											c.(541-543)ttC>ttA		patched domain containing 4							52.0	50.0	51.0					6																	47976683		1882	4128	6010	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976683G>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.594C>A	6.37:g.47976683G>T	ENSP00000341914:p.Phe198Leu					PTCHD4_ENST00000339488.4_Missense_Mutation_p.F198L	p.F181L			Q6ZW05	CF138_HUMAN			2	582	-			198					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.543C>A	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.185529|4.185529	0.78677|0.78677	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	T;T|.	0.80304|.	-1.36;-1.36|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60077|0.60077	0.2241|0.2241	M|M	0.72118|0.72118	2.19|2.19	0.58432|0.58432	D|D	0.999998|0.999998	B;D|.	0.63046|.	0.178;0.992|.	B;D|.	0.76071|.	0.28;0.987|.	T|T	0.61317|0.61317	-0.7087|-0.7087	10|5	0.21540|.	T|.	0.41|.	.|.	11.0431|11.0431	0.47842|0.47842	0.1367:0.0:0.8633:0.0|0.1367:0.0:0.8633:0.0	.|.	198;181|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	L|M	198;181|198	ENSP00000341914:F198L;ENSP00000439864:F181L|.	ENSP00000341914:F198L|.	F|L	-|-	3|1	2|2	C6orf138|C6orf138	48084642|48084642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.643000|4.643000	0.61390|0.61390	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	TTC|CTG		0.502	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		14	25	1	0	4.3838e-07	1	4.998e-07	14	25				
PLEKHA5	54477	broad.mit.edu	37	12	19512414	19512414	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:19512414A>C	ENST00000299275.6	+	22	2925	c.2919A>C	c.(2917-2919)gaA>gaC	p.E973D	PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1139D|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1031D|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E955D|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E917D|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1036D|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E731D|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E1031D|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E962D	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	973					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAGACCATGAAACTCCTGCAA	0.388																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(3091-3093)gaA>gaC		pleckstrin homology domain containing, family A member 5							110.0	104.0	106.0					12																	19512414		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19512414A>C	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2919A>C	12.37:g.19512414A>C	ENSP00000299275:p.Glu973Asp					PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E731D|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1036D|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1139D|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E973D|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E962D|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1031D|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E917D|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E955D	p.E1031D	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			24	3097	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		973					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.3093A>C	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.881057	0.33255	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96	4.75	-4.24	0.03777	.	0.958944	0.08692	N	0.907863	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B;B	0.21452	0.003;0.003;0.002;0.003;0.0;0.003;0.016;0.056	B;B;B;B;B;B;B;B	0.19946	0.009;0.003;0.002;0.006;0.004;0.002;0.009;0.027	T	0.39881	-0.9592	10	0.45353	T	0.12	-2.9543	1.7422	0.02955	0.2747:0.2694:0.3244:0.1316	.	1036;955;962;1134;917;1139;973;1031	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	D	1036;1031;917;1135;1139;973;731;1031;962;955;928;254	ENSP00000325155:E1036D;ENSP00000347560:E1031D;ENSP00000352104:E917D;ENSP00000404296:E1139D;ENSP00000299275:E973D;ENSP00000440611:E731D;ENSP00000439673:E1031D;ENSP00000400411:E962D;ENSP00000439837:E955D;ENSP00000440371:E928D;ENSP00000443553:E254D	ENSP00000299275:E973D	E	+	3	2	PLEKHA5	19403681	0.050000	0.20438	0.000000	0.03702	0.022000	0.10575	0.231000	0.17872	-0.854000	0.04131	0.378000	0.23410	GAA		0.388	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		7	50	0	0	0	1	0	7	50				
RALGAPA1	253959	broad.mit.edu	37	14	36096694	36096694	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36096694G>A	ENST00000389698.3	-	33	5331	c.4941C>T	c.(4939-4941)tgC>tgT	p.C1647C	RALGAPA1_ENST00000307138.6_Silent_p.C1647C|RALGAPA1_ENST00000382366.3_Silent_p.C1660C|RALGAPA1_ENST00000258840.6_Silent_p.C1694C	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1647	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATCTTCTAAGCATTCATTAG	0.403																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(5080-5082)tgC>tgT		Ral GTPase activating protein, alpha subunit 1 (catalytic)							83.0	87.0	86.0					14																	36096694		2202	4299	6501	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36096694G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4941C>T	14.37:g.36096694G>A						RALGAPA1_ENST00000307138.6_Silent_p.C1647C|RALGAPA1_ENST00000382366.3_Silent_p.C1660C|RALGAPA1_ENST00000389698.3_Silent_p.C1647C	p.C1694C			Q6GYQ0	RGPA1_HUMAN			34	5472	-			1647			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.5082C>T	CCDS32065.1																																																																																				0.403	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		24	43	0	0	0	1	0	24	43				
ZNF292	23036	broad.mit.edu	37	6	87967813	87967813	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:87967813T>G	ENST00000369577.3	+	8	4509	c.4466T>G	c.(4465-4467)aTt>aGt	p.I1489S	ZNF292_ENST00000339907.4_Missense_Mutation_p.I1484S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1489						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGTAGTGAAATTATTAAACAG	0.413																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(4465-4467)aTt>aGt		zinc finger protein 292							42.0	41.0	41.0					6																	87967813		1882	4093	5975	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87967813T>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4466T>G	6.37:g.87967813T>G	ENSP00000358590:p.Ile1489Ser					ZNF292_ENST00000339907.4_Missense_Mutation_p.I1484S	p.I1489S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	4509	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1489					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.4466T>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034392	0.54896	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.12039	2.72;2.73	5.97	5.97	0.96955	.	0.073849	0.52532	D	0.000070	T	0.15522	0.0374	N	0.24115	0.695	0.45634	D	0.998568	D	0.76494	0.999	D	0.78314	0.991	T	0.06391	-1.0829	10	0.46703	T	0.11	.	15.0319	0.71713	0.0:0.0:0.0:1.0	.	1489	O60281	ZN292_HUMAN	S	1489;1484	ENSP00000358590:I1489S;ENSP00000342847:I1484S	ENSP00000342847:I1484S	I	+	2	0	ZNF292	88024532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.665000	0.54532	2.288000	0.76882	0.533000	0.62120	ATT		0.413	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		10	22	0	0	0	1	0	10	22				
ZNF845	91664	broad.mit.edu	37	19	53848860	53848860	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53848860G>T	ENST00000595091.1	+	4	336	c.117G>T	c.(115-117)gaG>gaT	p.E39D	ZNF845_ENST00000458035.1_Missense_Mutation_p.E39D			Q96IR2	ZN845_HUMAN	zinc finger protein 845	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGATGCTGGAGAATTATAGGA	0.463																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(115-117)gaG>gaT		zinc finger protein 845							58.0	65.0	63.0					19																	53848860		692	1589	2281	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53848860G>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.117G>T	19.37:g.53848860G>T	ENSP00000470005:p.Glu39Asp					ZNF845_ENST00000595091.1_Missense_Mutation_p.E39D	p.E39D	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			3	234	+			39			KRAB.			Missense_Mutation	SNP	ENST00000595091.1	37	c.117G>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877230	0.33162	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.03920	3.76	1.85	1.85	0.25348	Krueppel-associated box (4);	.	.	.	.	T	0.21227	0.0511	M	0.88310	2.945	0.22675	N	0.998868	P	0.49307	0.922	P	0.62298	0.9	T	0.01786	-1.1274	9	0.87932	D	0	.	9.4146	0.38514	0.0:0.0:1.0:0.0	.	39	Q96IR2	ZN845_HUMAN	D	39	ENSP00000388311:E39D	ENSP00000352990:E39D	E	+	3	2	ZNF845	58540672	1.000000	0.71417	0.627000	0.29227	0.233000	0.25261	4.546000	0.60705	1.048000	0.40298	0.134000	0.15878	GAG		0.463	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		54	113	1	0	7.34454e-26	1	1.03635e-25	54	113				
CPZ	8532	broad.mit.edu	37	4	8621305	8621305	+	Silent	SNP	G	G	A	rs139174553	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:8621305G>A	ENST00000360986.4	+	11	2094	c.1920G>A	c.(1918-1920)tcG>tcA	p.S640S	CPZ_ENST00000429646.2_Silent_p.S248S|CPZ_ENST00000315782.6_Silent_p.S629S|CPZ_ENST00000382480.2_Silent_p.S503S	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	640					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACTTCACATCGCTGAGCACCC	0.706													G|||	8	0.00159744	0.0053	0.0	5008	,	,		13290	0.001		0.0	False		,,,				2504	0.0					ENST00000429646.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(742-744)tcG>tcA		carboxypeptidase Z		G	,,	25,4379		0,25,2177	23.0	23.0	23.0		1920,1509,1887	-9.6	0.0	4	dbSNP_134	23	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	,,	0,25,6475	AA,AG,GG		0.0,0.5677,0.1923	,,	640/653,503/516,629/642	8621305	25,12975	2202	4298	6500	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8621305G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1920G>A	4.37:g.8621305G>A						CPZ_ENST00000382480.2_Silent_p.S503S|CPZ_ENST00000360986.4_Silent_p.S640S|CPZ_ENST00000315782.6_Silent_p.S629S	p.S248S			Q66K79	CBPZ_HUMAN			9	3537	+			640					O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.744G>A	CCDS33953.1																																																																																				0.706	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		18	31	0	0	0	1	0	18	31				
ST8SIA6	338596	broad.mit.edu	37	10	17365098	17365098	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:17365098G>A	ENST00000377602.4	-	7	768	c.694C>T	c.(694-696)Ctt>Ttt	p.L232F		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	232					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ATAGTCACAAGATTTGTTTTA	0.343																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(694-696)Ctt>Ttt		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							200.0	180.0	187.0					10																	17365098		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17365098G>A		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.694C>T	10.37:g.17365098G>A	ENSP00000366827:p.Leu232Phe						p.L232F	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			7	768	-			232					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.694C>T	CCDS31158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.664433|2.664433	0.47572|0.47572	.|.	.|.	ENSG00000148488|ENSG00000148488	ENST00000377610;ENST00000377602|ENST00000440449	T|.	0.32988|.	1.43|.	5.12|5.12	4.21|4.21	0.49690|0.49690	.|.	0.114638|.	0.64402|.	D|.	0.000009|.	T|T	0.60650|0.60650	0.2285|0.2285	L|L	0.43646|0.43646	1.37|1.37	0.53005|0.53005	D|D	0.999968|0.999968	D|.	0.60575|.	0.988|.	D|.	0.63283|.	0.913|.	T|T	0.58725|0.58725	-0.7586|-0.7586	10|5	0.29301|.	T|.	0.29|.	-15.0787|-15.0787	15.9033|15.9033	0.79400|0.79400	0.0:0.1435:0.8565:0.0|0.0:0.1435:0.8565:0.0	.|.	232|.	P61647|.	SIA8F_HUMAN|.	F|F	62;232|52	ENSP00000366827:L232F|.	ENSP00000366827:L232F|.	L|S	-|-	1|2	0|0	ST8SIA6|ST8SIA6	17405104|17405104	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.904000|0.904000	0.53231|0.53231	5.058000|5.058000	0.64300|0.64300	1.511000|1.511000	0.48818|0.48818	0.563000|0.563000	0.77884|0.77884	CTT|TCT		0.343	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		21	46	0	0	0	1	0	21	46				
LIPK	643414	broad.mit.edu	37	10	90497470	90497470	+	Silent	SNP	C	C	T	rs573862404		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:90497470C>T	ENST00000404190.1	+	6	748	c.748C>T	c.(748-750)Cta>Tta	p.L250L		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	250					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CAATCGAAAGCTATTCCGTCG	0.383																																						ENST00000404190.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12						c.(748-750)Cta>Tta		lipase, family member K							223.0	207.0	212.0					10																	90497470		1877	4112	5989	SO:0001819	synonymous_variant	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90497470C>T		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.748C>T	10.37:g.90497470C>T							p.L250L	NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	6	748	+		Colorectal(252;0.0381)	250					A7KIH8	Silent	SNP	ENST00000404190.1	37	c.748C>T	CCDS44455.1																																																																																				0.383	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		30	72	0	0	0	1	0	30	72				
EMR1	2015	broad.mit.edu	37	19	6906479	6906479	+	Missense_Mutation	SNP	G	G	A	rs151096072		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6906479G>A	ENST00000312053.4	+	9	1022	c.985G>A	c.(985-987)Gat>Aat	p.D329N	EMR1_ENST00000450315.3_Missense_Mutation_p.D152N|EMR1_ENST00000250572.8_Missense_Mutation_p.D329N|EMR1_ENST00000381404.4_Missense_Mutation_p.D277N|EMR1_ENST00000381407.5_Missense_Mutation_p.D188N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	329	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D329Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTGATACCCGATAATAAGCA	0.393																																						ENST00000312053.4																			1	Substitution - Missense(1)	p.D329Y(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(985-987)Gat>Aat		egf-like module containing, mucin-like, hormone receptor-like 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	140.0	134.0	136.0		985	-4.2	0.0	19	dbSNP_134	136	0,8600		0,0,4300	no	missense	EMR1	NM_001974.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	329/887	6906479	1,13005	2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6906479G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.985G>A	19.37:g.6906479G>A	ENSP00000311545:p.Asp329Asn					EMR1_ENST00000450315.3_Missense_Mutation_p.D152N|EMR1_ENST00000381404.4_Missense_Mutation_p.D277N|EMR1_ENST00000381407.5_Missense_Mutation_p.D188N|EMR1_ENST00000250572.8_Missense_Mutation_p.D329N	p.D329N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			9	1022	+	all_hematologic(4;0.166)		329			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.985G>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	1.146	-0.648008	0.03506	2.27E-4	0.0	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77750	-1.09;-1.11;-1.12;0.05;0.39	2.98	-4.22	0.03800	.	.	.	.	.	T	0.48786	0.1519	N	0.04203	-0.255	0.09310	N	1	B;B;B;B;B	0.16396	0.017;0.008;0.011;0.017;0.006	B;B;B;B;B	0.11329	0.005;0.004;0.002;0.006;0.001	T	0.34279	-0.9835	9	0.17369	T	0.5	.	6.4188	0.21732	0.2627:0.1813:0.556:0.0	.	152;188;329;277;329	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	N	329;329;277;329;188;152	ENSP00000311545:D329N;ENSP00000370811:D277N;ENSP00000250572:D329N;ENSP00000370814:D188N;ENSP00000405974:D152N	ENSP00000250572:D329N	D	+	1	0	EMR1	6857479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.398000	0.02509	-1.026000	0.03330	-1.267000	0.01435	GAT		0.393	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			29	43	0	0	0	1	0	29	43				
PTPN12	5782	broad.mit.edu	37	7	77166889	77166889	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77166889A>C	ENST00000248594.6	+	1	298	c.26A>C	c.(25-27)aAa>aCa	p.K9T	PTPN12_ENST00000415482.2_5'Flank|PTPN12_ENST00000435495.2_5'Flank	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	9					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCCTGAGGAAATTCATCCAG	0.667																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(25-27)aAa>aCa		protein tyrosine phosphatase, non-receptor type 12							45.0	40.0	42.0					7																	77166889		2203	4300	6503	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77166889A>C		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.26A>C	7.37:g.77166889A>C	ENSP00000248594:p.Lys9Thr						p.K9T	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			1	298	+			9					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.26A>C	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	a	11.29	1.594694	0.28445	.	.	ENSG00000127947	ENST00000248594	T	0.12039	2.72	2.67	1.53	0.23141	.	0.323706	0.23993	N	0.042548	T	0.10252	0.0251	L	0.39898	1.24	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10823	-1.0613	10	0.62326	D	0.03	.	5.8921	0.18919	0.8619:0.0:0.1381:0.0	.	9	Q05209	PTN12_HUMAN	T	9	ENSP00000248594:K9T	ENSP00000248594:K9T	K	+	2	0	PTPN12	77004825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.820000	0.48057	0.460000	0.27045	0.370000	0.22315	AAA		0.667	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			8	14	0	0	0	1	0	8	14				
KIAA0319L	79932	broad.mit.edu	37	1	35972481	35972481	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35972481T>G	ENST00000325722.3	-	3	632	c.398A>C	c.(397-399)aAa>aCa	p.K133T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	133						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTTTGGAATTTTTTTAAAAA	0.512																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(397-399)aAa>aCa		KIAA0319-like							71.0	79.0	77.0					1																	35972481		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35972481T>G	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.398A>C	1.37:g.35972481T>G	ENSP00000318406:p.Lys133Thr						p.K133T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			3	632	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	133					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.398A>C	CCDS390.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.842004	0.32513	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000373258;ENST00000469892;ENST00000494948	T;T;T;T;T	0.61627	2.86;2.86;2.16;0.74;0.09	5.78	3.36	0.38483	.	0.391040	0.24204	N	0.040598	T	0.42877	0.1222	L	0.34521	1.04	0.09310	N	1	P;B;B	0.34724	0.465;0.335;0.002	B;B;B	0.29716	0.106;0.071;0.005	T	0.21861	-1.0233	10	0.46703	T	0.11	-1.4928	10.8846	0.46960	0.0:0.0:0.3028:0.6972	.	133;133;133	B4DYG9;B1AN14;Q8IZA0	.;.;K319L_HUMAN	T	133	ENSP00000318406:K133T;ENSP00000395883:K133T;ENSP00000407576:K133T;ENSP00000362355:K133T;ENSP00000419396:K133T	ENSP00000318406:K133T	K	-	2	0	KIAA0319L	35745068	0.995000	0.38212	0.033000	0.17914	0.226000	0.24999	2.444000	0.44890	0.402000	0.25451	0.533000	0.62120	AAA		0.512	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		34	54	0	0	0	1	0	34	54				
PSMD10	5716	broad.mit.edu	37	X	107331316	107331316	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107331316G>T	ENST00000217958.3	-	3	324	c.227C>A	c.(226-228)cCt>cAt	p.P76H	PSMD10_ENST00000340200.5_Missense_Mutation_p.P43H|PSMD10_ENST00000372296.1_Intron|PSMD10_ENST00000361815.5_Missense_Mutation_p.P76H|PSMD10_ENST00000372295.1_Intron	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	76	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AATATGAAGAGGAGACCAACC	0.453																																						ENST00000217958.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(226-228)cCt>cAt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 10							53.0	57.0	55.0					X																	107331316		2203	4299	6502	SO:0001583	missense	5716				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding	g.chrX:107331316G>T	AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"""Proteasome (prosome, macropain) subunits"", ""Ankyrin repeat domain containing"""	9555	protein-coding gene	gene with protein product	"""gankyrin"""	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.227C>A	X.37:g.107331316G>T	ENSP00000217958:p.Pro76His					PSMD10_ENST00000372295.1_Intron|PSMD10_ENST00000361815.5_Missense_Mutation_p.P76H|PSMD10_ENST00000340200.5_Missense_Mutation_p.P43H|PSMD10_ENST00000372296.1_Intron	p.P76H	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN			3	324	-			76			Interaction with RELA.		Q5U0B2|Q8IZK9	Missense_Mutation	SNP	ENST00000217958.3	37	c.227C>A	CCDS14536.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334500	0.81801	.	.	ENSG00000101843	ENST00000217958;ENST00000361815;ENST00000340200	T;T;T	0.72505	-0.57;-0.57;-0.66	4.96	4.96	0.65561	Ankyrin repeat-containing domain (3);	0.056719	0.64402	D	0.000001	D	0.88514	0.6457	H	0.94582	3.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.984	D	0.91760	0.5419	10	0.66056	D	0.02	-6.6316	17.374	0.87386	0.0:0.0:1.0:0.0	.	76;76	Q8IZK9;O75832	.;PSD10_HUMAN	H	76;76;43	ENSP00000217958:P76H;ENSP00000354906:P76H;ENSP00000345963:P43H	ENSP00000217958:P76H	P	-	2	0	PSMD10	107217972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.285000	0.76669	0.544000	0.68410	CCT		0.453	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057868.1	NM_170750		7	104	1	0	8.12818e-05	1	8.79784e-05	7	104				
ARMC4	55130	broad.mit.edu	37	10	28270421	28270421	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:28270421T>C	ENST00000305242.5	-	7	1002	c.910A>G	c.(910-912)Aaa>Gaa	p.K304E	ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K161E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	304					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTGAAAATTTTGGTGATTTT	0.294																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(910-912)Aaa>Gaa		armadillo repeat containing 4							61.0	67.0	65.0					10																	28270421		2201	4289	6490	SO:0001583	missense	55130						binding	g.chr10:28270421T>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.910A>G	10.37:g.28270421T>C	ENSP00000306410:p.Lys304Glu					ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K161E	p.K304E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			7	1002	-			304					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.910A>G	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.434131	0.01108	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.45668	1.51;0.9;0.89	5.01	2.2	0.27929	.	0.571786	0.19513	N	0.112463	T	0.32466	0.0830	L	0.54323	1.7	0.09310	N	1	B	0.15930	0.015	B	0.15052	0.012	T	0.22487	-1.0215	10	0.24483	T	0.36	-10.4582	5.9319	0.19144	0.0:0.1068:0.2891:0.6042	.	304	Q5T2S8	ARMC4_HUMAN	E	304;198;161	ENSP00000306410:K304E;ENSP00000398155:K198E;ENSP00000239715:K161E	ENSP00000239715:K161E	K	-	1	0	ARMC4	28310427	0.413000	0.25400	0.504000	0.27639	0.510000	0.34073	0.342000	0.19926	0.201000	0.20466	-0.291000	0.09656	AAA		0.294	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		14	32	0	0	0	1	0	14	32				
ZNF638	27332	broad.mit.edu	37	2	71654320	71654320	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71654320T>G	ENST00000409544.1	+	24	5951	c.5321T>G	c.(5320-5322)tTt>tGt	p.F1774C	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.F714C|ZNF638_ENST00000264447.4_Missense_Mutation_p.F1774C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1774					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAGCTTAATTTTGTTACTGTT	0.373																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(5320-5322)tTt>tGt		zinc finger protein 638							104.0	109.0	107.0					2																	71654320		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71654320T>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5321T>G	2.37:g.71654320T>G	ENSP00000386433:p.Phe1774Cys					ZNF638_ENST00000409407.1_Missense_Mutation_p.F714C|ZNF638_ENST00000264447.4_Missense_Mutation_p.F1774C|ZNF638_ENST00000355812.3_3'UTR	p.F1774C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			24	5951	+			1774					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5321T>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595074	0.66219	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.62364	0.03;0.03;0.39	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000058	T	0.67804	0.2932	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67741	-0.5592	10	0.38643	T	0.18	-15.8809	13.9308	0.63994	0.0:0.0:0.0:1.0	.	1774;1774	Q14966-3;Q14966	.;ZN638_HUMAN	C	1774;1774;714	ENSP00000264447:F1774C;ENSP00000386433:F1774C;ENSP00000386813:F714C	ENSP00000264447:F1774C	F	+	2	0	ZNF638	71507828	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.904000	0.69886	2.169000	0.68431	0.533000	0.62120	TTT		0.373	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		35	64	0	0	0	1	0	35	64				
TTN	7273	broad.mit.edu	37	2	179568878	179568878	+	Silent	SNP	G	G	A	rs369709449		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179568878G>A	ENST00000591111.1	-	104	29492	c.29268C>T	c.(29266-29268)atC>atT	p.I9756I	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.I10073I|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13834					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCACCTTCGATTCTGAGTT	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30217-30219)atC>atT		titin							230.0	216.0	220.0					2																	179568878		1961	4151	6112	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179568878G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29268C>T	2.37:g.179568878G>A						TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.I9756I	p.I10073I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		106	30443	-			9756			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.30219C>T																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	117	0	0	0	1	0	6	117				
WDR89	112840	broad.mit.edu	37	14	64066622	64066622	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64066622A>G	ENST00000394942.2	-	2	127	c.39T>C	c.(37-39)atT>atC	p.I13I	WDR89_ENST00000267522.3_Silent_p.I13I|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	13										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		AACATTTAACAATGTGCAGAT	0.343																																						ENST00000394942.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14						c.(37-39)atT>atC		WD repeat domain 89							65.0	66.0	65.0					14																	64066622		2203	4298	6501	SO:0001819	synonymous_variant	112840							g.chr14:64066622A>G	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.39T>C	14.37:g.64066622A>G						WDR89_ENST00000267522.3_Silent_p.I13I	p.I13I	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	2	127	-			13						Silent	SNP	ENST00000394942.2	37	c.39T>C	CCDS9759.1																																																																																				0.343	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		6	64	0	0	0	1	0	6	64				
AHNAK	79026	broad.mit.edu	37	11	62290790	62290790	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62290790A>C	ENST00000378024.4	-	5	11373	c.11099T>G	c.(11098-11100)cTa>cGa	p.L3700R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3700					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGGCCTTTTAGATCACCTTC	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11098-11100)cTa>cGa		AHNAK nucleoprotein							176.0	179.0	178.0					11																	62290790		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290790A>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11099T>G	11.37:g.62290790A>C	ENSP00000367263:p.Leu3700Arg					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L3700R	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11373	-		Melanoma(852;0.155)	3700					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11099T>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	12.98	2.100105	0.37048	.	.	ENSG00000124942	ENST00000378024	T	0.01406	4.93	4.69	4.69	0.59074	.	2.430730	0.02474	N	0.087840	T	0.12050	0.0293	H	0.96489	3.83	0.09310	N	1	P	0.51537	0.946	P	0.50896	0.653	T	0.51973	-0.8637	10	0.36615	T	0.2	.	14.1173	0.65161	1.0:0.0:0.0:0.0	.	3700	Q09666	AHNK_HUMAN	R	3700	ENSP00000367263:L3700R	ENSP00000367263:L3700R	L	-	2	0	AHNAK	62047366	0.872000	0.30054	0.002000	0.10522	0.003000	0.03518	8.006000	0.88564	1.874000	0.54306	0.472000	0.43445	CTA		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		97	174	0	0	0	1	0	97	174				
UVSSA	57654	broad.mit.edu	37	4	1345579	1345579	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:1345579A>C	ENST00000389851.4	+	4	953	c.506A>C	c.(505-507)aAa>aCa	p.K169T	UVSSA_ENST00000507531.1_Missense_Mutation_p.K169T|UVSSA_ENST00000511216.1_Missense_Mutation_p.K169T	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	169					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CACTTGGATAAAATTTATCAA	0.517											OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389851.4																			0											c.(505-507)aAa>aCa		UV-stimulated scaffold protein A							65.0	75.0	72.0					4																	1345579		2203	4300	6503	SO:0001583	missense	57654							g.chr4:1345579A>C	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.506A>C	4.37:g.1345579A>C	ENSP00000374501:p.Lys169Thr		OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	595	UVSSA_ENST00000511216.1_Missense_Mutation_p.K169T|UVSSA_ENST00000507531.1_Missense_Mutation_p.K169T	p.K169T	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			4	953	+			169					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.506A>C	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	A	7.182	0.589783	0.13812	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.31510	1.49;1.49;1.49	5.11	-5.5	0.02576	.	0.844225	0.10865	N	0.625660	T	0.16128	0.0388	N	0.25647	0.755	0.09310	N	0.999999	B	0.14438	0.01	B	0.10450	0.005	T	0.32268	-0.9913	10	0.18710	T	0.47	.	9.1434	0.36917	0.6145:0.0:0.2918:0.0937	.	169	Q2YD98	K1530_HUMAN	T	169	ENSP00000425130:K169T;ENSP00000374501:K169T;ENSP00000421741:K169T	ENSP00000374501:K169T	K	+	2	0	KIAA1530	1335579	0.000000	0.05858	0.000000	0.03702	0.554000	0.35429	-0.215000	0.09279	-0.945000	0.03681	0.459000	0.35465	AAA		0.517	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		18	53	0	0	0	1	0	18	53				
TPH1	7166	broad.mit.edu	37	11	18057674	18057674	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:18057674G>A	ENST00000250018.2	-	2	695	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	TPH1_ENST00000341556.2_Silent_p.L45L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	45	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ATATGTAACAGATTCACATGC	0.338																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(133-135)Ctg>Ttg		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						100.0	95.0	96.0					11																	18057674		2200	4293	6493	SO:0001819	synonymous_variant	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18057674G>A	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.133C>T	11.37:g.18057674G>A						TPH1_ENST00000341556.2_Silent_p.L45L	p.L45L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			2	695	-			45			ACT.		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Silent	SNP	ENST00000250018.2	37	c.133C>T	CCDS7829.1																																																																																				0.338	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		7	10	0	0	0	1	0	7	10				
CNGA1	1259	broad.mit.edu	37	4	47939204	47939204	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:47939204T>G	ENST00000514170.1	-	11	1626	c.1307A>C	c.(1306-1308)aAa>aCa	p.K436T	CNGA1_ENST00000420489.2_Missense_Mutation_p.K436T|CNGA1_ENST00000402813.3_Missense_Mutation_p.K505T|CNGA1_ENST00000544810.1_Missense_Mutation_p.K436T|CNGA1_ENST00000358519.4_Missense_Mutation_p.K436T			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	436					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTCAAACCATTTAATAACCCT	0.348																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1513-1515)aAa>aCa		cyclic nucleotide gated channel alpha 1							133.0	128.0	130.0					4																	47939204		1858	4098	5956	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939204T>G	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1307A>C	4.37:g.47939204T>G	ENSP00000426862:p.Lys436Thr					CNGA1_ENST00000514170.1_Missense_Mutation_p.K436T|CNGA1_ENST00000544810.1_Missense_Mutation_p.K436T|CNGA1_ENST00000420489.2_Missense_Mutation_p.K436T|CNGA1_ENST00000358519.4_Missense_Mutation_p.K436T	p.K505T			P29973	CNGA1_HUMAN			10	1656	-			436					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1514A>C	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.779200	0.31502	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21	5.22	4.03	0.46877	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.92525	0.7626	L	0.58669	1.825	0.52501	D	0.99995	P;P	0.35077	0.483;0.483	B;B	0.20384	0.029;0.029	D	0.88911	0.3359	10	0.22706	T	0.39	.	10.7954	0.46457	0.0:0.0744:0.0:0.9256	.	436;436	Q4W5E3;P29973	.;CNGA1_HUMAN	T	505;436;436;436;436	ENSP00000384264:K505T;ENSP00000426862:K436T;ENSP00000443401:K436T;ENSP00000351320:K436T;ENSP00000389881:K436T	ENSP00000351320:K436T	K	-	2	0	CNGA1	47633961	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.698000	0.84413	0.827000	0.34685	0.402000	0.26972	AAA		0.348	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		9	82	0	0	0	1	0	9	82				
MICU1	10367	broad.mit.edu	37	10	74293523	74293523	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74293523A>C	ENST00000361114.5	-	5	614	c.518T>G	c.(517-519)aTa>aGa	p.I173R	MICU1_ENST00000401998.3_Missense_Mutation_p.I173R|MICU1_ENST00000398761.4_Missense_Mutation_p.I173R	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	173					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AAAGCGTTTTATTATATATTG	0.294																																						ENST00000398761.4																			0											c.(517-519)aTa>aGa		mitochondrial calcium uptake 1							68.0	68.0	68.0					10																	74293523		1797	4063	5860	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74293523A>C	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.518T>G	10.37:g.74293523A>C	ENSP00000354415:p.Ile173Arg					MICU1_ENST00000401998.3_Missense_Mutation_p.I173R|MICU1_ENST00000361114.5_Missense_Mutation_p.I173R	p.I173R			Q9BPX6	MICU1_HUMAN			5	650	-			173					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.518T>G	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541605	0.65085	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	T;T;T	0.80909	-1.43;-1.31;-1.43	5.54	5.54	0.83059	EF-hand-like domain (1);	0.291406	0.37530	N	0.002044	T	0.72542	0.3473	L	0.38175	1.15	0.80722	D	1	B	0.29341	0.242	B	0.31614	0.133	T	0.68228	-0.5464	10	0.19147	T	0.46	.	13.922	0.63937	1.0:0.0:0.0:0.0	.	173	Q9BPX6	MICU1_HUMAN	R	173	ENSP00000354415:I173R;ENSP00000381745:I173R;ENSP00000384068:I173R	ENSP00000354415:I173R	I	-	2	0	MICU1	73963529	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.019000	0.64060	2.110000	0.64415	0.455000	0.32223	ATA		0.294	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		5	7	0	0	0	1	0	5	7				
COL4A5	1287	broad.mit.edu	37	X	107863490	107863490	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107863490T>C	ENST00000361603.2	+	31	2755	c.2511T>C	c.(2509-2511)ggT>ggC	p.G837G	COL4A5_ENST00000328300.6_Splice_Site_p.G837G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	837	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTAACTAGGTTTACATGGAA	0.423									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.e31-1		collagen, type IV, alpha 5							44.0	49.0	47.0					X																	107863490		2203	4300	6503	SO:0001630	splice_region_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107863490T>C	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2510-1T>C	X.37:g.107863490T>C						COL4A5_ENST00000361603.2_Splice_Site_p.G837_splice	p.G837_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			31	2755	+			837			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Splice_Site	SNP	ENST00000361603.2	37	c.2509_splice	CCDS14543.1																																																																																				0.423	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		Silent	23	50	0	0	0	1	0	23	50				
HFM1	164045	broad.mit.edu	37	1	91845729	91845729	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91845729A>G	ENST00000370425.3	-	8	1036	c.938T>C	c.(937-939)tTt>tCt	p.F313S	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	313	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGCTAGTTCAAACACTACAGT	0.284																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(937-939)tTt>tCt		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							83.0	84.0	84.0					1																	91845729		2203	4292	6495	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91845729A>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.938T>C	1.37:g.91845729A>G	ENSP00000359454:p.Phe313Ser					HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	p.F313S	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	8	1036	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	313			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.938T>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	29.5	5.012145	0.93346	.	.	ENSG00000162669	ENST00000370425;ENST00000541820	T	0.19938	2.11	5.6	5.6	0.85130	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.43110	U	0.000619	T	0.28732	0.0712	L	0.53780	1.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.03651	-1.1016	10	0.18276	T	0.48	.	15.7793	0.78246	1.0:0.0:0.0:0.0	.	313;313	B7ZM16;A2PYH4	.;HFM1_HUMAN	S	313;346	ENSP00000359454:F313S	ENSP00000359454:F313S	F	-	2	0	HFM1	91618317	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	8.730000	0.91510	2.129000	0.65627	0.455000	0.32223	TTT		0.284	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		20	34	0	0	0	1	0	20	34				
RXFP3	51289	broad.mit.edu	37	5	33937052	33937052	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:33937052C>T	ENST00000330120.3	+	1	562	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	69					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGGCAGCGGCGGGGCAGAGA	0.697																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(205-207)ggC>ggT		relaxin/insulin-like family peptide receptor 3							37.0	49.0	45.0					5																	33937052		2202	4297	6499	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937052C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.207C>T	5.37:g.33937052C>T							p.G69G	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	562	+			69					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.207C>T	CCDS3900.1																																																																																				0.697	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		30	44	0	0	0	1	0	30	44				
SLC6A2	6530	broad.mit.edu	37	16	55733485	55733485	+	Silent	SNP	C	C	T	rs573586347		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:55733485C>T	ENST00000379906.2	+	11	1764	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	SLC6A2_ENST00000567238.1_Silent_p.N398N|SLC6A2_ENST00000561820.1_Silent_p.N503N|SLC6A2_ENST00000414754.3_Silent_p.N503N|SLC6A2_ENST00000568943.1_Silent_p.N503N|SLC6A2_ENST00000566163.1_Silent_p.N458N|SLC6A2_ENST00000219833.8_Silent_p.N503N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	503					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGTTCAGCAACGACATCCAGC	0.597																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1507-1509)aaC>aaT		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						198.0	144.0	162.0					16																	55733485		2198	4300	6498	SO:0001819	synonymous_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55733485C>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1509C>T	16.37:g.55733485C>T						SLC6A2_ENST00000566163.1_Silent_p.N458N|SLC6A2_ENST00000567238.1_Silent_p.N398N|SLC6A2_ENST00000414754.3_Silent_p.N503N|SLC6A2_ENST00000561820.1_Silent_p.N503N|SLC6A2_ENST00000219833.8_Silent_p.N503N|SLC6A2_ENST00000568943.1_Silent_p.N503N	p.N503N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	11	1764	+			503					B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	c.1509C>T	CCDS10754.1																																																																																				0.597	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			22	45	0	0	0	1	0	22	45				
CCR3	1232	broad.mit.edu	37	3	46307386	46307386	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46307386C>T	ENST00000357422.2	+	4	1280	c.737C>T	c.(736-738)gCg>gTg	p.A246V	CCR3_ENST00000395940.2_Missense_Mutation_p.A246V|CCR3_ENST00000545097.1_Missense_Mutation_p.A267V|CCR3_ENST00000395942.2_Missense_Mutation_p.A246V|CCR3_ENST00000541018.1_Missense_Mutation_p.A246V			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	246					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTCATCATGGCGGTGTTTTTC	0.453																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(736-738)gCg>gTg		chemokine (C-C motif) receptor 3							78.0	78.0	78.0					3																	46307386		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307386C>T	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.737C>T	3.37:g.46307386C>T	ENSP00000350003:p.Ala246Val					CCR3_ENST00000395940.2_Missense_Mutation_p.A246V|CCR3_ENST00000395942.2_Missense_Mutation_p.A246V|CCR3_ENST00000545097.1_Missense_Mutation_p.A267V|CCR3_ENST00000541018.1_Missense_Mutation_p.A246V	p.A246V			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1280	+			246					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.737C>T	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412433	0.25465	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.96	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	1.004860	0.08015	N	0.991053	T	0.13457	0.0326	N	0.00446	-1.495	0.20764	N	0.999851	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.23119	-1.0197	10	0.30078	T	0.28	.	11.8978	0.52665	0.0:0.0685:0.0:0.9315	.	267;246	F5GWL6;P51677	.;CCR3_HUMAN	V	246;267;246;246;246	ENSP00000350003:A246V;ENSP00000441600:A267V;ENSP00000440097:A246V;ENSP00000379271:A246V;ENSP00000379273:A246V	ENSP00000350003:A246V	A	+	2	0	CCR3	46282390	0.001000	0.12720	0.999000	0.59377	0.689000	0.40095	0.843000	0.27640	1.061000	0.40601	-0.290000	0.09829	GCG		0.453	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			18	31	0	0	0	1	0	18	31				
NUDT4	11163	broad.mit.edu	37	12	93792607	93792607	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93792607G>A	ENST00000415493.2	+	4	743	c.316G>A	c.(316-318)Gat>Aat	p.D106N	NUDT4_ENST00000548662.1_Missense_Mutation_p.D54N|NUDT4_ENST00000547014.1_Missense_Mutation_p.D55N|NUDT4_ENST00000549992.1_Missense_Mutation_p.D54N|NUDT4_ENST00000337179.5_Missense_Mutation_p.D107N	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	106	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						AATATTAGAAGATTGGGAAGA	0.323																																						ENST00000337179.5																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(319-321)Gat>Aat		nudix (nucleoside diphosphate linked moiety X)-type motif 4							97.0	99.0	98.0					12																	93792607		2203	4300	6503	SO:0001583	missense	11163				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chr12:93792607G>A	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.316G>A	12.37:g.93792607G>A	ENSP00000406612:p.Asp106Asn					NUDT4_ENST00000547014.1_Missense_Mutation_p.D55N|NUDT4_ENST00000415493.2_Missense_Mutation_p.D106N|NUDT4_ENST00000548662.1_Missense_Mutation_p.D54N|NUDT4_ENST00000549992.1_Missense_Mutation_p.D54N	p.D107N	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN			4	759	+			106			Nudix hydrolase.		B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Missense_Mutation	SNP	ENST00000415493.2	37	c.319G>A	CCDS44952.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211561	0.95069	.	.	ENSG00000173598	ENST00000337179;ENST00000415493;ENST00000550056;ENST00000549992;ENST00000548662;ENST00000547014;ENST00000546925	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.23	5.23	0.72850	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.088474	0.85682	D	0.000000	T	0.53802	0.1819	L	0.50333	1.59	0.80722	D	1	P;P	0.44281	0.797;0.831	P;P	0.52672	0.581;0.706	T	0.48636	-0.9018	10	0.41790	T	0.15	-9.3854	19.159	0.93524	0.0:0.0:1.0:0.0	.	107;106	Q9NZJ9-2;Q9NZJ9	.;NUDT4_HUMAN	N	107;106;54;54;54;55;54	ENSP00000338352:D107N;ENSP00000406612:D106N;ENSP00000448504:D54N;ENSP00000449552:D54N;ENSP00000449724:D54N;ENSP00000448032:D55N;ENSP00000448620:D54N	ENSP00000338352:D107N	D	+	1	0	NUDT4	92316738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.403000	0.73264	2.587000	0.87381	0.561000	0.74099	GAT		0.323	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094		8	21	0	0	0	1	0	8	21				
SPTBN1	6711	broad.mit.edu	37	2	54858519	54858519	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:54858519A>G	ENST00000356805.4	+	16	3616	c.3335A>G	c.(3334-3336)gAc>gGc	p.D1112G	SPTBN1_ENST00000333896.5_Missense_Mutation_p.D1099G	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1112					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AACGAGATCGACAACTACGAG	0.587																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(3295-3297)gAc>gGc		spectrin, beta, non-erythrocytic 1							183.0	149.0	160.0					2																	54858519		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54858519A>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3335A>G	2.37:g.54858519A>G	ENSP00000349259:p.Asp1112Gly					SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1112G	p.D1099G	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		15	3681	+			1112					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3296A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937990	0.52972	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.49720	0.77;0.77	5.56	5.56	0.83823	.	0.328810	0.33180	N	0.005187	T	0.50069	0.1594	M	0.63843	1.955	0.38296	D	0.942855	B;B	0.15719	0.005;0.014	B;B	0.25614	0.03;0.062	T	0.53767	-0.8392	10	0.62326	D	0.03	.	15.727	0.77770	1.0:0.0:0.0:0.0	.	1099;1112	Q01082-3;Q01082	.;SPTB2_HUMAN	G	1112;1099	ENSP00000349259:D1112G;ENSP00000334156:D1099G	ENSP00000334156:D1099G	D	+	2	0	SPTBN1	54712023	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.088000	0.50175	2.118000	0.64928	0.533000	0.62120	GAC		0.587	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			46	95	0	0	0	1	0	46	95				
PDE8A	5151	broad.mit.edu	37	15	85664054	85664054	+	Silent	SNP	C	C	T	rs149557632		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:85664054C>T	ENST00000310298.4	+	19	2013	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	PDE8A_ENST00000394553.1_Silent_p.V587V|PDE8A_ENST00000339708.5_Silent_p.V541V|PDE8A_ENST00000557957.1_Silent_p.V515V			O60658	PDE8A_HUMAN	phosphodiesterase 8A	587	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V587V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	TTGATGAGGTCGCTGCACTCA	0.448																																						ENST00000310298.4																			1	Substitution - coding silent(1)	p.V587V(1)	skin(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1759-1761)gtC>gtT		phosphodiesterase 8A							131.0	114.0	120.0					15																	85664054		2203	4299	6502	SO:0001819	synonymous_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85664054C>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1761C>T	15.37:g.85664054C>T						PDE8A_ENST00000339708.5_Silent_p.V541V|PDE8A_ENST00000394553.1_Silent_p.V587V|PDE8A_ENST00000557957.1_Silent_p.V515V	p.V587V			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		19	2013	+	Colorectal(223;0.227)		587			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	37	c.1761C>T	CCDS10336.1																																																																																				0.448	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		24	48	0	0	0	1	0	24	48				
WBP11	51729	broad.mit.edu	37	12	14947660	14947660	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:14947660G>A	ENST00000261167.2	-	7	765	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	178	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GAAACTGCCCGAGTTGGAGGT	0.428																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(532-534)Cgg>Tgg		WW domain binding protein 11							36.0	42.0	40.0					12																	14947660		2199	4298	6497	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947660G>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.532C>T	12.37:g.14947660G>A	ENSP00000261167:p.Arg178Trp					WBP11_ENST00000537574.1_Missense_Mutation_p.R178W	p.R178W	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			7	765	-			178			Pro-rich.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.532C>T	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551112	0.45383	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.72	2.72	0.32119	.	0.389211	0.24126	N	0.041320	T	0.54334	0.1852	L	0.42245	1.32	0.38993	D	0.959195	D	0.63880	0.993	P	0.54590	0.756	T	0.60490	-0.7253	9	0.72032	D	0.01	-6.6992	10.1348	0.42699	0.0:0.0:0.5216:0.4783	.	178	Q9Y2W2	WBP11_HUMAN	W	178	.	ENSP00000261167:R178W	R	-	1	2	WBP11	14838927	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.029000	0.41098	1.317000	0.45149	0.655000	0.94253	CGG		0.428	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		34	46	0	0	0	1	0	34	46				
ZNF331	55422	broad.mit.edu	37	19	54080743	54080743	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54080743G>A	ENST00000253144.9	+	7	2262	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	ZNF331_ENST00000512387.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000411977.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000513999.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000511154.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000449416.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000511593.2_Missense_Mutation_p.R310Q	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	310					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)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GCCTTTACTCGAGTCAATTAC	0.473			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(928-930)cGa>cAa		zinc finger protein 331							84.0	78.0	80.0					19																	54080743		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080743G>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.929G>A	19.37:g.54080743G>A	ENSP00000253144:p.Arg310Gln					ZNF331_ENST00000411977.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000513999.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000449416.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000511593.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000512387.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.R310Q	p.R310Q	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2262	+			310					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.929G>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	7.417	0.635838	0.14386	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19	3.91	3.91	0.45181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34777	N	0.003695	T	0.03178	0.0093	N	0.04705	-0.18	0.09310	N	1	P	0.36222	0.544	B	0.18561	0.022	T	0.45614	-0.9249	10	0.14252	T	0.57	.	13.765	0.62990	0.0:0.0:1.0:0.0	.	310	Q9NQX6	ZN331_HUMAN	Q	310	ENSP00000253144:R310Q;ENSP00000427439:R310Q;ENSP00000393817:R310Q;ENSP00000393336:R310Q;ENSP00000421014:R310Q;ENSP00000423156:R310Q;ENSP00000421728:R310Q	ENSP00000253144:R310Q	R	+	2	0	ZNF331	58772555	0.000000	0.05858	0.192000	0.23308	0.270000	0.26580	-0.074000	0.11450	2.179000	0.69175	0.655000	0.94253	CGA		0.473	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		22	42	0	0	0	1	0	22	42				
MYOM3	127294	broad.mit.edu	37	1	24388592	24388592	+	Missense_Mutation	SNP	G	G	A	rs199620469		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24388592G>A	ENST00000374434.3	-	33	3940	c.3778C>T	c.(3778-3780)Cgt>Tgt	p.R1260C	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.R1263C|MYOM3_ENST00000338909.5_Missense_Mutation_p.R153C	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1260						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTCTCCAGACGTTTGTCTCTG	0.512																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3787-3789)Cgt>Tgt		myomesin 3		G	CYS/ARG	3,3883		0,3,1940	141.0	140.0	140.0		3778	5.2	1.0	1		140	0,8264		0,0,4132	yes	missense	MYOM3	NM_152372.3	180	0,3,6072	AA,AG,GG		0.0,0.0772,0.0247	probably-damaging	1260/1438	24388592	3,12147	1943	4132	6075	SO:0001583	missense	127294							g.chr1:24388592G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3778C>T	1.37:g.24388592G>A	ENSP00000363557:p.Arg1260Cys					MYOM3_ENST00000374434.3_Missense_Mutation_p.R1260C|MYOM3_ENST00000338909.5_Missense_Mutation_p.R153C|RP11-293P20.2_ENST00000439239.2_RNA	p.R1263C			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	33	3949	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1260					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3787C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227747	0.58668	7.72E-4	0.0	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.42131	0.98;0.98;0.98	5.21	5.21	0.72293	Immunoglobulin-like fold (1);	0.185462	0.45867	D	0.000321	T	0.59155	0.2173	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	P;D	0.65987	0.893;0.94	T	0.60772	-0.7197	10	0.56958	D	0.05	.	13.6949	0.62572	0.0:0.0:0.8457:0.1543	.	1260;153	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	C	153;1260;1263;155	ENSP00000342689:R153C;ENSP00000363557:R1260C;ENSP00000332670:R1263C	ENSP00000332670:R1263C	R	-	1	0	MYOM3	24261179	0.703000	0.27826	1.000000	0.80357	0.360000	0.29518	2.243000	0.43115	2.422000	0.82143	0.591000	0.81541	CGT		0.512	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		35	81	0	0	0	1	0	35	81				
PIK3C2B	5287	broad.mit.edu	37	1	204438067	204438067	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:204438067G>T	ENST00000367187.3	-	3	1420	c.864C>A	c.(862-864)acC>acA	p.T288T	PIK3C2B_ENST00000424712.2_Silent_p.T288T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	288	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGAGGCATAGGTGCGGGGGG	0.617																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(862-864)acC>acA		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							57.0	65.0	63.0					1																	204438067		2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438067G>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.864C>A	1.37:g.204438067G>T						PIK3C2B_ENST00000424712.2_Silent_p.T288T	p.T288T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1420	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		288			Interaction with GRB2.		O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.864C>A	CCDS1446.1																																																																																				0.617	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		47	96	1	0	3.77016e-25	1	5.30521e-25	47	96				
ZNF836	162962	broad.mit.edu	37	19	52660432	52660432	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52660432C>A	ENST00000322146.8	-	5	1025	c.504G>T	c.(502-504)gaG>gaT	p.E168D	ZNF836_ENST00000597252.1_Missense_Mutation_p.E168D|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAACTGTCTTCTCAGATTGGT	0.343																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(502-504)gaG>gaT		zinc finger protein 836							61.0	58.0	59.0					19																	52660432		1918	4136	6054	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52660432C>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.504G>T	19.37:g.52660432C>A	ENSP00000325038:p.Glu168Asp					CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.E168D	p.E168D	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	1025	-			168						Missense_Mutation	SNP	ENST00000322146.8	37	c.504G>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	8.769	0.925437	0.18056	.	.	ENSG00000196267	ENST00000322146	T	0.07908	3.15	1.95	-0.803	0.10886	.	.	.	.	.	T	0.06234	0.0161	L	0.47716	1.5	0.09310	N	1	P	0.38195	0.622	B	0.32762	0.152	T	0.32402	-0.9908	9	0.40728	T	0.16	.	4.5411	0.12058	0.0:0.6036:0.2301:0.1662	.	168	Q6ZNA1	ZN836_HUMAN	D	168	ENSP00000325038:E168D	ENSP00000325038:E168D	E	-	3	2	ZNF836	57352244	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	-0.643000	0.05421	0.168000	0.19655	0.549000	0.68633	GAG		0.343	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		3	9	1	0	0.004672	1	0.00483628	3	9				
TTC21A	199223	broad.mit.edu	37	3	39159652	39159652	+	Missense_Mutation	SNP	C	C	A	rs373627662		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39159652C>A	ENST00000431162.2	+	7	943	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	TTC21A_ENST00000440121.1_Intron|TTC21A_ENST00000301819.6_Missense_Mutation_p.S270Y			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	270								p.S270Y(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACAGTAAGTTCTTTGAAGACT	0.458																																						ENST00000301819.6																			2	Substitution - Missense(2)	p.S270Y(2)	large_intestine(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(808-810)tCt>tAt		tetratricopeptide repeat domain 21A							127.0	123.0	124.0					3																	39159652		1935	4165	6100	SO:0001583	missense	199223						binding	g.chr3:39159652C>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.809C>A	3.37:g.39159652C>A	ENSP00000398211:p.Ser270Tyr					TTC21A_ENST00000431162.2_Missense_Mutation_p.S270Y|TTC21A_ENST00000440121.1_Intron	p.S270Y	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	7	986	+			270					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.809C>A	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	8.420	0.846160	0.16963	.	.	ENSG00000168026	ENST00000301819;ENST00000431162	T;T	0.58940	0.3;0.3	4.77	0.696	0.18075	.	0.637751	0.13895	N	0.355340	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.21793	-1.0235	10	0.07325	T	0.83	.	5.2219	0.15373	0.1242:0.5492:0.2423:0.0843	.	270;270	Q8NDW8-7;Q8NDW8	.;TT21A_HUMAN	Y	270	ENSP00000301819:S270Y;ENSP00000398211:S270Y	ENSP00000301819:S270Y	S	+	2	0	TTC21A	39134656	0.000000	0.05858	0.055000	0.19348	0.027000	0.11550	0.005000	0.13129	-0.111000	0.12001	-1.150000	0.01838	TCT		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		32	57	1	0	3.11337e-16	1	4.1367e-16	32	57				
DACH2	117154	broad.mit.edu	37	X	85631856	85631856	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85631856C>A	ENST00000373125.4	+	2	518	c.518C>A	c.(517-519)gCt>gAt	p.A173D	DACH2_ENST00000510272.1_Intron|DACH2_ENST00000508860.1_Missense_Mutation_p.A6D|DACH2_ENST00000373131.1_Intron	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	173					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						agaaaacaagctgttaacagg	0.338																																						ENST00000373125.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(517-519)gCt>gAt		dachshund homolog 2 (Drosophila)							22.0	20.0	20.0					X																	85631856		2176	4258	6434	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85631856C>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.518C>A	X.37:g.85631856C>A	ENSP00000362217:p.Ala173Asp					DACH2_ENST00000373131.1_Intron|DACH2_ENST00000508860.1_Missense_Mutation_p.A6D|DACH2_ENST00000510272.1_Intron	p.A173D	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN			2	518	+			173					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.518C>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519319	0.27211	.	.	ENSG00000126733	ENST00000344497;ENST00000373125;ENST00000508860	D	0.83335	-1.71	3.78	3.78	0.43462	.	0.802457	0.10633	N	0.651946	T	0.80407	0.4617	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	D	0.73708	0.981	T	0.73563	-0.3943	10	0.25751	T	0.34	.	10.2694	0.43475	0.0:1.0:0.0:0.0	.	173	Q96NX9	DACH2_HUMAN	D	173;173;6	ENSP00000362217:A173D	ENSP00000345134:A173D	A	+	2	0	DACH2	85518512	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.519000	0.35888	1.880000	0.54463	0.462000	0.41574	GCT		0.338	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		3	3	1	0	0.00909568	1	0.00935351	3	3				
TRANK1	9881	broad.mit.edu	37	3	36873394	36873394	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36873394C>T	ENST00000429976.2	-	21	7795	c.7548G>A	c.(7546-7548)gaG>gaA	p.E2516E	TRANK1_ENST00000428977.2_Silent_p.E1966E|TRANK1_ENST00000301807.6_Silent_p.E1966E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2516							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCAGTGTCCGCTCAGCCTCAC	0.527																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(7546-7548)gaG>gaA		tetratricopeptide repeat and ankyrin repeat containing 1							116.0	118.0	118.0					3																	36873394		2173	4277	6450	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873394C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7548G>A	3.37:g.36873394C>T						TRANK1_ENST00000428977.2_Silent_p.E1966E|TRANK1_ENST00000301807.6_Silent_p.E1966E	p.E2516E			O15050	TRNK1_HUMAN			21	7795	-			2516					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.7548G>A	CCDS46789.2																																																																																				0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		42	98	0	0	0	1	0	42	98				
CYP17A1	1586	broad.mit.edu	37	10	104592872	104592872	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:104592872C>A	ENST00000369887.3	-	5	1018	c.847G>T	c.(847-849)Gac>Tac	p.D283Y	CYP17A1_ENST00000489268.1_5'Flank|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	283					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	AGCTCTGAGTCTTGATCTGGG	0.512																																						ENST00000369887.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(847-849)Gac>Tac		cytochrome P450, family 17, subfamily A, polypeptide 1	NADH(DB00157)|Progesterone(DB00396)						262.0	226.0	238.0					10																	104592872		2203	4300	6503	SO:0001583	missense	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104592872C>A	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.847G>T	10.37:g.104592872C>A	ENSP00000358903:p.Asp283Tyr					CYP17A1-AS1_ENST00000369884.4_RNA	p.D283Y	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	5	1018	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	283					Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.847G>T	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926712	0.34002	.	.	ENSG00000148795	ENST00000369887	T	0.73047	-0.71	5.21	3.11	0.35812	.	0.337533	0.34777	N	0.003696	T	0.76891	0.4051	M	0.67700	2.07	0.23454	N	0.997642	P	0.52463	0.953	P	0.57425	0.82	T	0.67872	-0.5558	10	0.62326	D	0.03	.	9.58	0.39481	0.0:0.804:0.0:0.196	.	283	P05093	CP17A_HUMAN	Y	283	ENSP00000358903:D283Y	ENSP00000358903:D283Y	D	-	1	0	CYP17A1	104582862	0.204000	0.23447	0.032000	0.17829	0.007000	0.05969	0.739000	0.26173	0.593000	0.29745	0.561000	0.74099	GAC		0.512	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		27	55	1	0	1.33986e-20	1	1.83757e-20	27	55				
INSR	3643	broad.mit.edu	37	19	7125368	7125368	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7125368A>G	ENST00000302850.5	-	17	3326	c.3184T>C	c.(3184-3186)Tca>Cca	p.S1062P	INSR_ENST00000341500.5_Missense_Mutation_p.S1050P	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1062	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AGACTGGCTGACTCGTTGACC	0.612																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(3148-3150)Tca>Cca		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151.0	113.0	126.0					19																	7125368		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7125368A>G	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3184T>C	19.37:g.7125368A>G	ENSP00000303830:p.Ser1062Pro					INSR_ENST00000302850.5_Missense_Mutation_p.S1062P	p.S1050P	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			16	3187	-			1062			Protein kinase.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.3148T>C	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.570458	0.65765	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.83335	-1.71;-1.71	5.06	1.5	0.22942	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.186131	0.26096	N	0.026374	D	0.84279	0.5437	L	0.39566	1.225	0.58432	D	0.999997	P;D	0.53312	0.902;0.959	P;P	0.61477	0.713;0.889	T	0.82008	-0.0670	10	0.52906	T	0.07	.	12.0051	0.53255	0.7399:0.2601:0.0:0.0	.	1050;1062	P06213-2;P06213	.;INSR_HUMAN	P	1062;1050	ENSP00000303830:S1062P;ENSP00000342838:S1050P	ENSP00000303830:S1062P	S	-	1	0	INSR	7076368	1.000000	0.71417	0.882000	0.34594	0.967000	0.64934	3.116000	0.50399	0.043000	0.15746	0.533000	0.62120	TCA		0.612	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			29	67	0	0	0	1	0	29	67				
ZNF814	730051	broad.mit.edu	37	19	58388316	58388316	+	Missense_Mutation	SNP	G	G	A	rs376851812	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58388316G>A	ENST00000435989.2	-	2	365	c.131C>T	c.(130-132)aCg>aTg	p.T44M	ZNF814_ENST00000597807.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597832.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597342.1_Missense_Mutation_p.T73M|ZNF814_ENST00000600634.1_Missense_Mutation_p.T44M|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Missense_Mutation_p.T44M	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GTTCTCCAGCGTCACATCACG	0.498													.|||	3	0.000599042	0.0	0.0	5008	,	,		22578	0.002		0.001	False		,,,				2504	0.0					ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(130-132)aCg>aTg		zinc finger protein 814		G	MET/THR	0,1384		0,0,692	183.0	147.0	158.0		131	2.0	0.9	19	dbSNP_134	158	1,3181		0,1,1590	no	missense	ZNF814	NM_001144989.1	81	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	benign	44/856	58388316	1,4565	692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58388316G>A		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.131C>T	19.37:g.58388316G>A	ENSP00000410545:p.Thr44Met					ZNF814_ENST00000600634.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597342.1_Missense_Mutation_p.T73M|ZNF814_ENST00000595295.1_Intron|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597832.1_Missense_Mutation_p.T44M|ZNF814_ENST00000596604.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597807.1_Missense_Mutation_p.T44M	p.T44M	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			2	365	-			44			KRAB.		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.131C>T	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.161	-1.081502	0.01888	0.0	3.14E-4	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.01076	5.37	3.17	1.99	0.26369	Krueppel-associated box (4);	.	.	.	.	T	0.00241	0.0007	N	0.00008	-3.095	0.21627	N	0.99962	B	0.17038	0.02	B	0.08055	0.003	T	0.43605	-0.9381	9	0.02654	T	1	.	4.982	0.14170	0.8461:0.0:0.1539:0.0	.	44	B7Z6K7	ZN814_HUMAN	M	44	ENSP00000410545:T44M	ENSP00000365378:T44M	T	-	2	0	ZNF814	63080128	1.000000	0.71417	0.928000	0.36995	0.359000	0.29487	2.760000	0.47581	0.306000	0.22856	-0.683000	0.03753	ACG		0.498	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		32	65	0	0	0	1	0	32	65				
TNRC6A	27327	broad.mit.edu	37	16	24834300	24834300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24834300G>T	ENST00000395799.3	+	24	5608	c.5479G>T	c.(5479-5481)Gaa>Taa	p.E1827*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.E1778*|TNRC6A_ENST00000432286.2_Nonsense_Mutation_p.E305*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1827	RRM.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTTCAAAAGAAGAGGTAGT	0.542																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(5479-5481)Gaa>Taa		trinucleotide repeat containing 6A							141.0	122.0	128.0					16																	24834300		2197	4300	6497	SO:0001587	stop_gained	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24834300G>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5479G>T	16.37:g.24834300G>T	ENSP00000379144:p.Glu1827*					TNRC6A_ENST00000432286.2_Nonsense_Mutation_p.E305*|TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.E1778*	p.E1827*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	24	5608	+			1827			RRM.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	ENST00000395799.3	37	c.5479G>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	47|47	13.345428|13.345428	0.99736|0.99736	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.056680|.	0.64402|.	D|.	0.000001|.	.|T	.|0.74268	.|0.3694	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74051	.|-0.3789	.|3	0.72032|.	D|.	0.01|.	-7.1327|-7.1327	18.3036|18.3036	0.90172|0.90172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1778;1827;305|717	.|.	ENSP00000326900:E1778X|.	E|R	+|+	1|2	0|0	TNRC6A|TNRC6A	24741801|24741801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.809000|7.809000	0.86057|0.86057	2.303000|2.303000	0.77524|0.77524	0.651000|0.651000	0.88453|0.88453	GAA|AGA		0.542	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		52	112	1	0	2.81731e-22	1	3.91347e-22	52	112				
FAM122B	159090	broad.mit.edu	37	X	133922766	133922766	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133922766G>A	ENST00000370790.1	-	5	1300	c.372C>T	c.(370-372)ttC>ttT	p.F124F	FAM122B_ENST00000343004.5_Silent_p.F143F|FAM122B_ENST00000298090.6_Silent_p.F143F|FAM122B_ENST00000486347.1_Silent_p.F124F|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	124										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CTACCTTTCCGAATCCCCTGG	0.398																																						ENST00000370790.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6						c.(370-372)ttC>ttT		family with sequence similarity 122B							88.0	78.0	81.0					X																	133922766		2203	4300	6503	SO:0001819	synonymous_variant	159090							g.chrX:133922766G>A	BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.372C>T	X.37:g.133922766G>A						FAM122B_ENST00000298090.6_Silent_p.F143F|FAM122B_ENST00000486347.1_Silent_p.F124F|FAM122B_ENST00000343004.5_Silent_p.F143F|FAM122B_ENST00000493333.1_5'UTR	p.F124F	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN			5	1300	-	Acute lymphoblastic leukemia(192;0.000127)		124					A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Silent	SNP	ENST00000370790.1	37	c.372C>T	CCDS55497.1																																																																																				0.398	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058382.1	NM_145284		9	35	0	0	0	1	0	9	35				
ZNF528	84436	broad.mit.edu	37	19	52918955	52918955	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52918955C>A	ENST00000360465.3	+	7	1276	c.850C>A	c.(850-852)Ctt>Att	p.L284I	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CAGTTCAAAGCTTGCACAACA	0.378																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(850-852)Ctt>Att		zinc finger protein 528							93.0	98.0	96.0					19																	52918955		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918955C>A	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.850C>A	19.37:g.52918955C>A	ENSP00000353652:p.Leu284Ile					ZNF528_ENST00000391788.2_3'UTR	p.L284I	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1276	+			284					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.850C>A	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976813	0.34848	.	.	ENSG00000167555	ENST00000360465	T	0.53857	0.6	1.99	0.845	0.18950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69015	0.3064	M	0.84511	2.7	0.09310	N	1	D	0.69078	0.997	D	0.91635	0.999	T	0.55373	-0.8151	9	0.66056	D	0.02	.	4.0128	0.09631	0.2357:0.6169:0.0:0.1474	.	284	Q3MIS6	ZN528_HUMAN	I	284	ENSP00000353652:L284I	ENSP00000353652:L284I	L	+	1	0	ZNF528	57610767	0.085000	0.21516	0.000000	0.03702	0.001000	0.01503	0.673000	0.25203	0.137000	0.18759	0.591000	0.81541	CTT		0.378	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		26	57	1	0	1.1804e-14	1	1.54286e-14	26	57				
ZNF334	55713	broad.mit.edu	37	20	45130994	45130994	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45130994C>A	ENST00000347606.4	-	5	1166	c.984G>T	c.(982-984)aaG>aaT	p.K328N	ZNF334_ENST00000593880.1_Missense_Mutation_p.K351N|ZNF334_ENST00000457685.2_Missense_Mutation_p.K290N	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAAAAAAGGTCTTTCCACATT	0.438																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(868-870)aaG>aaT		zinc finger protein 334							119.0	123.0	121.0					20																	45130994		2202	4300	6502	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130994C>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.984G>T	20.37:g.45130994C>A	ENSP00000255129:p.Lys328Asn					ZNF334_ENST00000347606.4_Missense_Mutation_p.K328N|ZNF334_ENST00000593880.1_Missense_Mutation_p.K351N	p.K290N			Q9HCZ1	ZN334_HUMAN			6	2193	-		Myeloproliferative disorder(115;0.0122)	328					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.870G>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511463	0.44660	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.27890	3.15;1.64	3.3	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52338	0.1728	M	0.93197	3.39	0.21604	N	0.999622	P;P;P	0.51351	0.944;0.944;0.944	P;P;P	0.55749	0.783;0.783;0.783	T	0.45527	-0.9255	9	0.72032	D	0.01	.	3.6032	0.08032	0.0:0.5449:0.2121:0.243	.	290;328;351	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	N	290;328	ENSP00000402582:K290N;ENSP00000255129:K328N	ENSP00000255129:K328N	K	-	3	2	ZNF334	44564401	0.001000	0.12720	0.037000	0.18230	0.989000	0.77384	-0.381000	0.07417	0.190000	0.20209	0.591000	0.81541	AAG		0.438	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			4	107	1	0	0.184627	1	0.185817	4	107				
OR51S1	119692	broad.mit.edu	37	11	4869969	4869969	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4869969G>T	ENST00000322101.2	-	1	545	c.470C>A	c.(469-471)tCt>tAt	p.S157Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S157F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATCGAAAAGAAATGGCCAG	0.552																																						ENST00000322101.2																			1	Substitution - Missense(1)	p.S157F(1)	skin(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(469-471)tCt>tAt		olfactory receptor, family 51, subfamily S, member 1							100.0	100.0	100.0					11																	4869969		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869969G>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.470C>A	11.37:g.4869969G>T	ENSP00000322754:p.Ser157Tyr					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.S157Y	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	545	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	157					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.470C>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	2.331	-0.353480	0.05173	.	.	ENSG00000176922	ENST00000322101	T	0.70164	-0.46	5.25	-4.68	0.03309	GPCR, rhodopsin-like superfamily (1);	1.003840	0.08028	N	0.993026	T	0.42494	0.1205	N	0.05441	-0.05	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.32693	-0.9897	10	0.62326	D	0.03	0.1112	9.7463	0.40448	0.7021:0.1216:0.1762:0.0	.	157	Q8NGJ8	O51S1_HUMAN	Y	157	ENSP00000322754:S157Y	ENSP00000322754:S157Y	S	-	2	0	OR51S1	4826545	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.006000	0.13152	-0.805000	0.04404	-1.778000	0.00651	TCT		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		55	93	1	0	1.07234e-20	1	1.47176e-20	55	93				
CCNT1	904	broad.mit.edu	37	12	49088048	49088048	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49088048C>T	ENST00000261900.3	-	9	1171	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	317					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GATGACTCTTCGGAGACTGGC	0.498																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(949-951)Gaa>Aaa		cyclin T1							112.0	102.0	106.0					12																	49088048		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49088048C>T	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.949G>A	12.37:g.49088048C>T	ENSP00000261900:p.Glu317Lys						p.E317K	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1171	-			317					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.949G>A	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	6.482	0.457054	0.12283	.	.	ENSG00000129315	ENST00000261900	T	0.49720	0.77	5.49	5.49	0.81192	.	0.078040	0.49916	D	0.000133	T	0.23249	0.0562	N	0.08118	0	0.33794	D	0.62581	B	0.30193	0.272	B	0.18871	0.023	T	0.33420	-0.9869	10	0.13108	T	0.6	-4.2304	11.6038	0.51020	0.0:0.9168:0.0:0.0832	.	317	O60563	CCNT1_HUMAN	K	317	ENSP00000261900:E317K	ENSP00000261900:E317K	E	-	1	0	CCNT1	47374315	.	.	0.994000	0.49952	0.439000	0.31926	.	.	2.587000	0.87381	0.491000	0.48974	GAA		0.498	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		38	47	0	0	0	1	0	38	47				
PHTF2	57157	broad.mit.edu	37	7	77579062	77579062	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77579062C>T	ENST00000248550.7	+	16	2103	c.2027C>T	c.(2026-2028)tCg>tTg	p.S676L	PHTF2_ENST00000422959.2_Missense_Mutation_p.S642L|PHTF2_ENST00000416283.2_Missense_Mutation_p.S642L|PHTF2_ENST00000307305.8_Missense_Mutation_p.S638L|PHTF2_ENST00000275575.7_Intron			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	676					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGGTGCATCTCGTTAACACTT	0.353																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1924-1926)tCg>tTg		putative homeodomain transcription factor 2							136.0	123.0	127.0					7																	77579062		1849	4085	5934	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77579062C>T	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.2027C>T	7.37:g.77579062C>T	ENSP00000248550:p.Ser676Leu					PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000248550.7_Missense_Mutation_p.S676L|PHTF2_ENST00000422959.2_Missense_Mutation_p.S642L|PHTF2_ENST00000307305.8_Missense_Mutation_p.S638L	p.S642L	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			15	2051	+			676					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.1925C>T		.	.	.	.	.	.	.	.	.	.	C	28.1	4.894250	0.91889	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000416283;ENST00000248550	.	.	.	5.32	5.32	0.75619	.	0.145130	0.49916	D	0.000139	T	0.62380	0.2423	N	0.14661	0.345	0.53688	D	0.999974	D;B;P	0.76494	0.999;0.409;0.835	D;B;B	0.77557	0.99;0.062;0.198	T	0.63229	-0.6684	9	0.33940	T	0.23	-9.0995	19.3637	0.94453	0.0:1.0:0.0:0.0	.	642;676;638	Q8N3S3-2;Q8N3S3;Q8N3S3-3	.;PHTF2_HUMAN;.	L	642;642;638;642;676	.	ENSP00000248550:S676L	S	+	2	0	PHTF2	77416998	1.000000	0.71417	0.958000	0.39756	0.893000	0.52053	5.079000	0.64431	2.648000	0.89879	0.655000	0.94253	TCG		0.353	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		5	7	0	0	0	1	0	5	7				
PREP	5550	broad.mit.edu	37	6	105825262	105825262	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:105825262G>A	ENST00000369110.3	-	3	445	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	85					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CAGTCTCACCGTTTTCCTTTC	0.328																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e3+1		prolyl endopeptidase	Oxytocin(DB00107)						147.0	145.0	146.0					6																	105825262		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105825262G>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.254+1C>T	6.37:g.105825262G>A							p.R85_splice	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			3	445	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	85					Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37	c.254_splice	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555971	0.65425	.	.	ENSG00000085377	ENST00000369110	T	0.45668	0.89	5.76	2.65	0.31530	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.087086	0.85682	D	0.000000	T	0.44891	0.1315	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.41197	-0.9522	10	0.45353	T	0.12	-6.4239	7.8862	0.29651	0.0852:0.0:0.3576:0.5572	.	85	P48147	PPCE_HUMAN	W	85	ENSP00000358106:R85W	ENSP00000358106:R85W	R	-	1	2	PREP	105931955	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.954000	0.49113	0.725000	0.32318	0.650000	0.86243	CGG		0.328	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Missense_Mutation	27	66	0	0	0	1	0	27	66				
HEATR5B	54497	broad.mit.edu	37	2	37268371	37268371	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37268371G>A	ENST00000233099.5	-	19	2856	c.2761C>T	c.(2761-2763)Cgt>Tgt	p.R921C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R921C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	921						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCAACATAACGATGCAAACAA	0.433																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2761-2763)Cgt>Tgt		HEAT repeat containing 5B							174.0	152.0	160.0					2																	37268371		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37268371G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2761C>T	2.37:g.37268371G>A	ENSP00000233099:p.Arg921Cys					HEATR5B_ENST00000354531.2_Missense_Mutation_p.R921C	p.R921C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			19	2856	-		all_hematologic(82;0.21)	921					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2761C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265414	0.95399	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.07800	3.16;3.16	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33979	-0.9847	10	0.87932	D	0	-17.0957	19.2841	0.94063	0.0:0.0:1.0:0.0	.	921	Q9P2D3	HTR5B_HUMAN	C	921	ENSP00000233099:R921C;ENSP00000346531:R921C	ENSP00000233099:R921C	R	-	1	0	HEATR5B	37121875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.894000	0.87336	2.535000	0.85469	0.655000	0.94253	CGT		0.433	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		32	43	0	0	0	1	0	32	43				
SLC26A2	1836	broad.mit.edu	37	5	149360083	149360083	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149360083T>G	ENST00000286298.4	+	3	1195	c.927T>G	c.(925-927)ctT>ctG	p.L309L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	309					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCACCAGCCTTTTGTGCCTTT	0.428																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(925-927)ctT>ctG		solute carrier family 26 (anion exchanger), member 2							129.0	121.0	123.0					5																	149360083		2203	4300	6503	SO:0001819	synonymous_variant	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360083T>G	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.927T>G	5.37:g.149360083T>G							p.L309L	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1195	+			309					A8K2U3|B2R6J1|Q6N051	Silent	SNP	ENST00000286298.4	37	c.927T>G	CCDS4300.1																																																																																				0.428	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		11	43	0	0	0	1	0	11	43				
BAI1	575	broad.mit.edu	37	8	143570434	143570434	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:143570434C>T	ENST00000517894.1	+	15	3385	c.2491C>T	c.(2491-2493)Ctc>Ttc	p.L831F	BAI1_ENST00000323289.5_Missense_Mutation_p.L831F			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	831					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGCACCGTGCTCTACAGGAA	0.672																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(2491-2493)Ctc>Ttc		brain-specific angiogenesis inhibitor 1							44.0	45.0	45.0					8																	143570434		1985	4142	6127	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143570434C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2491C>T	8.37:g.143570434C>T	ENSP00000430945:p.Leu831Phe					BAI1_ENST00000323289.5_Missense_Mutation_p.L831F	p.L831F			O14514	BAI1_HUMAN			15	3385	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		831						Missense_Mutation	SNP	ENST00000517894.1	37	c.2491C>T		.	.	.	.	.	.	.	.	.	.	C	25.1	4.604751	0.87157	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.13089	2.62;2.62	4.94	4.94	0.65067	.	0.000000	0.64402	U	0.000015	T	0.34279	0.0892	L	0.59436	1.845	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.04522	-1.0945	10	0.66056	D	0.02	.	15.6436	0.77029	0.0:1.0:0.0:0.0	.	831	E9PBK0	.	F	831	ENSP00000430945:L831F;ENSP00000313046:L831F	ENSP00000313046:L831F	L	+	1	0	BAI1	143567436	1.000000	0.71417	0.918000	0.36340	0.932000	0.56968	2.574000	0.46016	2.269000	0.75478	0.462000	0.41574	CTC		0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	15	0	0	0	1	0	5	15				
TAF8	129685	broad.mit.edu	37	6	42023720	42023720	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:42023720C>A	ENST00000372977.3	+	4	350	c.332C>A	c.(331-333)gCa>gAa	p.A111E	TAF8_ENST00000456846.2_Missense_Mutation_p.A111E|TAF8_ENST00000372978.3_Missense_Mutation_p.A111E|TAF8_ENST00000494547.1_Missense_Mutation_p.A111E|TAF8_ENST00000482432.1_Missense_Mutation_p.A48E|TAF8_ENST00000372982.4_Missense_Mutation_p.A111E|TAF8_ENST00000472818.1_Missense_Mutation_p.A111E|TAF8_ENST00000465926.1_Missense_Mutation_p.A48E|TAF8_ENST00000482926.1_3'UTR	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	111					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCTGCTTATGCAAAACGGTCT	0.388																																						ENST00000372977.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(331-333)gCa>gAa		TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa							156.0	142.0	146.0					6																	42023720		1936	4130	6066	SO:0001583	missense	129685				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	g.chr6:42023720C>A	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.332C>A	6.37:g.42023720C>A	ENSP00000362068:p.Ala111Glu					TAF8_ENST00000456846.2_Missense_Mutation_p.A111E|TAF8_ENST00000472818.1_Missense_Mutation_p.A111E|TAF8_ENST00000494547.1_Missense_Mutation_p.A111E|TAF8_ENST00000465926.1_Missense_Mutation_p.A48E|TAF8_ENST00000372982.4_Missense_Mutation_p.A111E|TAF8_ENST00000372978.3_Missense_Mutation_p.A111E|TAF8_ENST00000482432.1_Missense_Mutation_p.A48E|TAF8_ENST00000482926.1_3'UTR	p.A111E	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		4	350	+	Colorectal(47;0.196)		111					Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	ENST00000372977.3	37	c.332C>A	CCDS43462.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483031	0.96307	.	.	ENSG00000137413	ENST00000372978;ENST00000456846;ENST00000494547;ENST00000372982;ENST00000372977;ENST00000472818;ENST00000465926;ENST00000482432	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	M	0.75777	2.31	0.80722	D	1	P;D;D;D;D	0.71674	0.933;0.992;0.99;0.986;0.998	P;D;P;P;D	0.78314	0.462;0.925;0.779;0.843;0.991	T	0.66135	-0.5999	9	0.21014	T	0.42	-18.7186	20.4745	0.99168	0.0:1.0:0.0:0.0	.	48;111;111;111;111	B4DZU5;Q7Z7C8-2;Q7Z7C8-4;Q7Z7C8;C9J7M8	.;.;.;TAF8_HUMAN;.	E	111;111;111;111;111;111;48;48	.	ENSP00000362068:A111E	A	+	2	0	TAF8	42131698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.420000	0.80191	2.941000	0.99782	0.655000	0.94253	GCA		0.388	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572		34	19	1	0	6.05902e-23	1	8.45196e-23	34	19				
OR1J1	347168	broad.mit.edu	37	9	125239745	125239745	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125239745G>A	ENST00000259357.2	-	1	490	c.461C>T	c.(460-462)gCg>gTg	p.A154V	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGAGCACACGCACAAGCGAT	0.542																																						ENST00000259357.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(460-462)gCg>gTg		olfactory receptor, family 1, subfamily J, member 1							90.0	78.0	82.0					9																	125239745		2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239745G>A	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.461C>T	9.37:g.125239745G>A	ENSP00000259357:p.Ala154Val						p.A154V	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN			1	490	-			154					A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.461C>T	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	g	0.058	-1.231824	0.01505	.	.	ENSG00000136834	ENST00000259357	T	0.35605	1.3	4.57	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.344126	0.25178	N	0.032547	T	0.17534	0.0421	N	0.16307	0.4	0.22127	N	0.999346	P	0.35959	0.53	B	0.31245	0.126	T	0.10776	-1.0615	10	0.52906	T	0.07	.	5.3894	0.16236	0.2498:0.146:0.6042:0.0	.	154	Q8NGS3	OR1J1_HUMAN	V	154	ENSP00000259357:A154V	ENSP00000259357:A154V	A	-	2	0	OR1J1	124279566	0.000000	0.05858	0.422000	0.26621	0.005000	0.04900	0.782000	0.26788	0.294000	0.22547	-0.267000	0.10333	GCG		0.542	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			18	28	0	0	0	1	0	18	28				
MAP3K9	4293	broad.mit.edu	37	14	71205013	71205013	+	Missense_Mutation	SNP	G	G	A	rs572761925		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71205013G>A	ENST00000554752.2	-	8	1792	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	MAP3K9_ENST00000553414.1_Missense_Mutation_p.T340M|MAP3K9_ENST00000381250.4_Missense_Mutation_p.T598M|MAP3K9_ENST00000554146.1_Missense_Mutation_p.T335M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.T598M	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	598					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGCCCCCACGTCCGTCCCTT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17354	0.001		0.0	False		,,,				2504	0.0				GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1792-1794)aCg>aTg		mitogen-activated protein kinase kinase kinase 9							123.0	113.0	116.0					14																	71205013		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71205013G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1793C>T	14.37:g.71205013G>A	ENSP00000451612:p.Thr598Met					MAP3K9_ENST00000381250.4_Missense_Mutation_p.T598M|MAP3K9_ENST00000554146.1_Missense_Mutation_p.T335M|MAP3K9_ENST00000553414.1_Missense_Mutation_p.T340M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.T598M	p.T598M			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	8	1792	-			598					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1793C>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.341792	0.81911	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.97	5.97	0.96955	.	0.104409	0.64402	D	0.000005	T	0.42131	0.1189	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.998	T	0.12041	-1.0563	10	0.72032	D	0.01	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	335;598;598;340	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	M	598;598;340;598;335;326	ENSP00000451612:T598M;ENSP00000451038:T340M;ENSP00000370649:T598M;ENSP00000451921:T335M	ENSP00000005198:T598M	T	-	2	0	MAP3K9	70274766	1.000000	0.71417	0.974000	0.42286	0.342000	0.28953	7.996000	0.88334	2.837000	0.97791	0.655000	0.94253	ACG		0.557	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			29	57	0	0	0	1	0	29	57				
SYNE1	23345	broad.mit.edu	37	6	152476036	152476036	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152476036C>A	ENST00000367255.5	-	133	24721	c.24120G>T	c.(24118-24120)aaG>aaT	p.K8040N	SYNE1_ENST00000265368.4_Missense_Mutation_p.K8040N|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000354674.4_Missense_Mutation_p.K195N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K7652N|SYNE1_ENST00000539504.1_Missense_Mutation_p.K195N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K2564N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8040					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCAAATTTCTTTAGTTCTT	0.383										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24118-24120)aaG>aaT		spectrin repeat containing, nuclear envelope 1							79.0	88.0	85.0					6																	152476036		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152476036C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24120G>T	6.37:g.152476036C>A	ENSP00000356224:p.Lys8040Asn	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000539504.1_Missense_Mutation_p.K195N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K8040N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K7652N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K2564N|SYNE1_ENST00000354674.4_Missense_Mutation_p.K195N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000347037.5_5'UTR	p.K8040N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	133	24721	-		Ovarian(120;0.0955)	8040					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24120G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006873	0.74932	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.55413	1.2;0.52;0.52;1.2;1.2;1.2;1.2;0.52;0.52;0.52	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000011	T	0.67636	0.2914	M	0.79123	2.44	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.989	T	0.70447	-0.4869	10	0.72032	D	0.01	.	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	8040;8040;7969;7969;242	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	N	8040;195;686;7969;8040;7969;7652;2564;202;197;962;195	ENSP00000356224:K8040N;ENSP00000441052:K195N;ENSP00000356226:K686N;ENSP00000396024:K7969N;ENSP00000265368:K8040N;ENSP00000390975:K7969N;ENSP00000341887:K7652N;ENSP00000349276:K2564N;ENSP00000356220:K962N;ENSP00000346701:K195N	ENSP00000265368:K8040N	K	-	3	2	SYNE1	152517729	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.192000	0.42649	2.882000	0.98803	0.655000	0.94253	AAG		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		47	70	1	0	1.48734e-19	1	2.02648e-19	47	70				
ATR	545	broad.mit.edu	37	3	142281164	142281164	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142281164C>T	ENST00000350721.4	-	4	1201	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G	ATR_ENST00000383101.3_Silent_p.G360G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	360					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGATTCATACCCAGCTGGCA	0.398								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1078-1080)ggG>ggA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							67.0	67.0	67.0					3																	142281164		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281164C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1080G>A	3.37:g.142281164C>T						ATR_ENST00000383101.3_Silent_p.G360G	p.G360G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	1201	-			360					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.1080G>A	CCDS3124.1																																																																																				0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		22	44	0	0	0	1	0	22	44				
PCDHGA6	56109	broad.mit.edu	37	5	140754335	140754335	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140754335C>A	ENST00000517434.1	+	1	685	c.685C>A	c.(685-687)Ctg>Atg	p.L229M	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCAAATTCTGGTAACAGT	0.542																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(685-687)Ctg>Atg									37.0	40.0	39.0					5																	140754335		1994	4152	6146	SO:0001583	missense	0							g.chr5:140754335C>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.685C>A	5.37:g.140754335C>A	ENSP00000429601:p.Leu229Met					PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.L229M	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	685	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.685C>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	6.814	0.519196	0.13005	.	.	ENSG00000253731	ENST00000517434	T	0.52057	0.68	4.99	3.15	0.36227	Cadherin (4);Cadherin-like (1);	1.038480	0.07821	U	0.959803	T	0.62332	0.2419	M	0.78223	2.4	0.09310	N	1	P;P	0.49253	0.713;0.921	P;P	0.53954	0.525;0.738	T	0.46775	-0.9167	10	0.36615	T	0.2	.	10.3099	0.43702	0.142:0.5902:0.2677:0.0	.	229;229	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	M	229	ENSP00000429601:L229M	ENSP00000429601:L229M	L	+	1	2	PCDHGA6	140734519	0.000000	0.05858	0.950000	0.38849	0.043000	0.13939	-0.451000	0.06795	0.759000	0.33084	0.655000	0.94253	CTG		0.542	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		14	21	1	0	6.31663e-08	1	7.35827e-08	14	21				
MGAM	8972	broad.mit.edu	37	7	141727464	141727464	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141727464C>T	ENST00000549489.2	+	10	1245	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	MGAM_ENST00000475668.2_Missense_Mutation_p.R384C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	384	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCACCTCAGTCGTTACGAATA	0.453																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(1150-1152)Cgt>Tgt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						63.0	61.0	62.0					7																	141727464		1859	4104	5963	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141727464C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1150C>T	7.37:g.141727464C>T	ENSP00000447378:p.Arg384Cys					MGAM_ENST00000549489.2_Missense_Mutation_p.R384C	p.R384C			O43451	MGA_HUMAN			10	1204	+	Melanoma(164;0.0272)		384			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.1150C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353232	0.82132	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92911	-3.13	5.55	4.66	0.58398	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000045	D	0.97207	0.9087	H	0.96430	3.82	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	D	0.98143	1.0437	10	0.87932	D	0	.	13.5189	0.61555	0.1572:0.8428:0.0:0.0	.	384	O43451	MGA_HUMAN	C	384;384;261	ENSP00000447378:R384C	ENSP00000316431:R261C	R	+	1	0	MGAM	141373933	1.000000	0.71417	0.880000	0.34516	0.740000	0.42216	5.535000	0.67173	1.553000	0.49476	0.655000	0.94253	CGT		0.453	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			12	17	0	0	0	1	0	12	17				
TBC1D28	254272	broad.mit.edu	37	17	18539887	18539887	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18539887A>C	ENST00000345096.4	-	9	1220	c.521T>G	c.(520-522)cTc>cGc	p.L174R	TBC1D28_ENST00000405044.1_Missense_Mutation_p.L174R			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	174	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						ATAGGCCACGAGGATGTCACA	0.463																																						ENST00000345096.4																			0				breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						c.(520-522)cTc>cGc		TBC1 domain family, member 28							141.0	136.0	137.0					17																	18539887		1865	4114	5979	SO:0001583	missense	254272					intracellular	Rab GTPase activator activity	g.chr17:18539887A>C		CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.521T>G	17.37:g.18539887A>C	ENSP00000339973:p.Leu174Arg					TBC1D28_ENST00000405044.1_Missense_Mutation_p.L174R	p.L174R			Q2M2D7	TBC28_HUMAN			9	1220	-			174			Rab-GAP TBC.		Q2M2E1	Missense_Mutation	SNP	ENST00000345096.4	37	c.521T>G	CCDS42273.1	.	.	.	.	.	.	.	.	.	.	N	10.28	1.305936	0.23736	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.53423	0.62;0.62	0.456	0.456	0.16655	Rab-GAP/TBC domain (2);	0.000000	0.64402	U	0.000011	T	0.65893	0.2735	M	0.90252	3.1	0.09310	N	1	D	0.63046	0.992	P	0.62089	0.898	T	0.57493	-0.7802	9	0.87932	D	0	.	.	.	.	.	174	Q2M2D7	TBC28_HUMAN	R	174	ENSP00000339973:L174R;ENSP00000385821:L174R	ENSP00000339973:L174R	L	-	2	0	TBC1D28	18480612	0.005000	0.15991	0.001000	0.08648	0.023000	0.10783	1.241000	0.32743	0.418000	0.25898	0.248000	0.18094	CTC		0.463	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397		16	138	0	0	0	1	0	16	138				
TAF4B	6875	broad.mit.edu	37	18	23895323	23895323	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:23895323C>A	ENST00000269142.5	+	10	2961	c.1963C>A	c.(1963-1965)Ctt>Att	p.L655I	TAF4B_ENST00000578121.1_Missense_Mutation_p.L660I	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	655	Histone-fold.				gene expression (GO:0010467)|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)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TGAACCATTTCTTTTTATTGG	0.358																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(1963-1965)Ctt>Att		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							66.0	61.0	63.0					18																	23895323		1840	4090	5930	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23895323C>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1963C>A	18.37:g.23895323C>A	ENSP00000269142:p.Leu655Ile					TAF4B_ENST00000578121.1_Missense_Mutation_p.L660I	p.L655I	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		10	2961	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		655			Histone-fold.		Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1963C>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346669	0.61073	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	T	0.60548	0.18	5.91	5.91	0.95273	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.067225	0.64402	D	0.000009	T	0.80899	0.4712	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.81711	-0.0808	10	0.54805	T	0.06	-12.9115	20.2983	0.98569	0.0:1.0:0.0:0.0	.	655;660	Q92750;A4PBF7	TAF4B_HUMAN;.	I	658;655	ENSP00000269142:L655I	ENSP00000269142:L655I	L	+	1	0	TAF4B	22149321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	CTT		0.358	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		12	27	1	0	7.03913e-09	1	8.36985e-09	12	27				
OR4N4	283694	broad.mit.edu	37	15	22383340	22383340	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22383340C>T	ENST00000328795.4	+	1	959	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATACCCTTCGCAACCAGGA	0.413																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(868-870)Cgc>Tgc		olfactory receptor, family 4, subfamily N, member 4							99.0	92.0	95.0					15																	22383340		2188	4257	6445	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383340C>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.868C>T	15.37:g.22383340C>T	ENSP00000332500:p.Arg290Cys					RP11-69H14.6_ENST00000558896.1_RNA	p.R290C	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	959	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	290					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.868C>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	4.881	0.163693	0.09287	.	.	ENSG00000183706	ENST00000328795	T	0.40476	1.03	3.2	-0.203	0.13204	.	0.000000	0.39341	N	0.001393	T	0.34687	0.0906	M	0.82517	2.595	0.31758	N	0.633697	P	0.35684	0.515	B	0.27715	0.082	T	0.41233	-0.9520	10	0.87932	D	0	-0.1547	2.9531	0.05868	0.3045:0.4485:0.0:0.247	.	290	Q8N0Y3	OR4N4_HUMAN	C	290	ENSP00000332500:R290C	ENSP00000332500:R290C	R	+	1	0	OR4N4	19884704	0.014000	0.17966	0.992000	0.48379	0.187000	0.23431	0.551000	0.23361	0.193000	0.20303	-0.521000	0.04368	CGC		0.413	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			15	123	0	0	0	1	0	15	123				
CLDN19	149461	broad.mit.edu	37	1	43205521	43205521	+	Missense_Mutation	SNP	C	C	T	rs571067526		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43205521C>T	ENST00000296387.1	-	1	404	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	CLDN19_ENST00000539749.1_Missense_Mutation_p.A72T|CLDN19_ENST00000372539.3_Missense_Mutation_p.A72T	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	72					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCGTCCAGGGCGAGCAGCGAG	0.637																																						ENST00000539749.1																			0				breast(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(214-216)Gcc>Acc		claudin 19							27.0	23.0	24.0					1																	43205521		2203	4299	6502	SO:0001583	missense	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43205521C>T	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.214G>A	1.37:g.43205521C>T	ENSP00000296387:p.Ala72Thr					CLDN19_ENST00000372539.3_Missense_Mutation_p.A72T|CLDN19_ENST00000296387.1_Missense_Mutation_p.A72T	p.A72T	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN			1	404	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	72					B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.214G>A	CCDS471.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900127	0.72754	.	.	ENSG00000164007	ENST00000296387;ENST00000539749;ENST00000372539	D;D;D	0.89196	-2.48;-2.48;-2.48	4.77	3.79	0.43588	.	0.062483	0.64402	D	0.000004	D	0.89001	0.6591	M	0.73319	2.225	0.38404	D	0.945759	D;P;P	0.54964	0.969;0.866;0.89	P;B;B	0.48400	0.576;0.216;0.322	D	0.90322	0.4345	10	0.66056	D	0.02	.	9.5201	0.39129	0.3409:0.6591:0.0:0.0	.	72;72;72	F5H5P9;Q8N6F1-2;Q8N6F1	.;.;CLD19_HUMAN	T	72	ENSP00000296387:A72T;ENSP00000443229:A72T;ENSP00000361617:A72T	ENSP00000296387:A72T	A	-	1	0	CLDN19	42978108	0.793000	0.28825	1.000000	0.80357	0.981000	0.71138	1.421000	0.34815	2.182000	0.69389	0.643000	0.83706	GCC		0.637	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960		8	16	0	0	0	1	0	8	16				
SV2B	9899	broad.mit.edu	37	15	91827259	91827259	+	Missense_Mutation	SNP	G	G	A	rs375437326		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:91827259G>A	ENST00000394232.1	+	11	1986	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	SV2B_ENST00000545111.2_Missense_Mutation_p.E355K|SV2B_ENST00000330276.4_Missense_Mutation_p.E506K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	506					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGACCTCTACGAGCACAAGTT	0.512																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1516-1518)Gag>Aag		synaptic vesicle glycoprotein 2B		G	LYS/GLU,LYS/GLU	0,4396		0,0,2198	191.0	185.0	187.0		1063,1516	-0.7	0.2	15		187	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	SV2B	NM_001167580.1,NM_014848.4	56,56	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	355/533,506/684	91827259	1,12991	2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91827259G>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1516G>A	15.37:g.91827259G>A	ENSP00000377779:p.Glu506Lys					SV2B_ENST00000330276.4_Missense_Mutation_p.E506K|SV2B_ENST00000545111.2_Missense_Mutation_p.E355K	p.E506K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		11	1986	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		506					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1516G>A	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246230	0.22796	0.0	1.16E-4	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.39997	1.05;1.05;1.05	5.61	-0.713	0.11223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.547756	0.20000	N	0.101345	T	0.18130	0.0435	N	0.12887	0.27	0.19575	N	0.999964	B	0.12630	0.006	B	0.15870	0.014	T	0.29119	-1.0022	10	0.07990	T	0.79	-13.842	8.5284	0.33319	0.1884:0.4942:0.3174:0.0	.	506	Q7L1I2	SV2B_HUMAN	K	355;506;506	ENSP00000443243:E355K;ENSP00000377779:E506K;ENSP00000332818:E506K	ENSP00000332818:E506K	E	+	1	0	SV2B	89628263	0.000000	0.05858	0.243000	0.24186	0.936000	0.57629	-0.220000	0.09215	0.194000	0.20326	0.586000	0.80456	GAG		0.512	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		73	147	0	0	0	1	0	73	147				
TTN	7273	broad.mit.edu	37	2	179571456	179571456	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179571456C>T	ENST00000591111.1	-	100	28418	c.28194G>A	c.(28192-28194)gcG>gcA	p.A9398A	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.A9715A|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.A8471A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13496	Ig-like 77.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGAAGGTCGCAGTGGTTT	0.353																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(29143-29145)gcG>gcA		titin							100.0	93.0	95.0					2																	179571456		1826	4073	5899	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179571456C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28194G>A	2.37:g.179571456C>T						TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.A8471A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.A9398A	p.A9715A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		102	29369	-			9398			Ig-like 78.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.29145G>A																																																																																					0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	34	0	0	0	1	0	23	34				
ZNF721	170960	broad.mit.edu	37	4	435658	435658	+	Silent	SNP	T	T	C	rs368829120		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:435658T>C	ENST00000338977.5	-	2	2610	c.2562A>G	c.(2560-2562)acA>acG	p.T854T	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.T866T|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	854					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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATTCTCCACATGTGTAGGGTT	0.423																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2560-2562)acA>acG		zinc finger protein 721							61.0	65.0	64.0					4																	435658		2098	4245	6343	SO:0001819	synonymous_variant	170960							g.chr4:435658T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2562A>G	4.37:g.435658T>C						ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.T866T|ZNF721_ENST00000507078.1_Intron	p.T854T							2	2610	-								Q69YG7	Silent	SNP	ENST00000338977.5	37	c.2562A>G																																																																																					0.423	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		20	28	0	0	0	1	0	20	28				
PCDHA13	56136	broad.mit.edu	37	5	140262568	140262568	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140262568G>A	ENST00000289272.2	+	1	715	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A239T|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCCCCGGAATT	0.458																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(715-717)Gcc>Acc									66.0	64.0	65.0					5																	140262568		2203	4300	6503	SO:0001583	missense	0							g.chr5:140262568G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.715G>A	5.37:g.140262568G>A	ENSP00000289272:p.Ala239Thr					PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A239T|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.A239T	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	715	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.715G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293914	0.40594	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.61742	0.08;0.08	5.58	5.58	0.84498	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.64843	0.2635	M	0.81497	2.545	0.27995	N	0.935513	P;P;D	0.57899	0.869;0.874;0.981	P;B;P	0.49252	0.604;0.311;0.512	T	0.64803	-0.6321	9	0.44086	T	0.13	.	8.8267	0.35059	0.077:0.0:0.7721:0.1509	.	239;239;239	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	T	239	ENSP00000386821:A239T;ENSP00000289272:A239T	ENSP00000289272:A239T	A	+	1	0	PCDHA13	140242752	0.001000	0.12720	0.987000	0.45799	0.854000	0.48673	1.115000	0.31209	2.621000	0.88768	0.561000	0.74099	GCC		0.458	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		25	50	0	0	0	1	0	25	50				
TENM1	10178	broad.mit.edu	37	X	123554640	123554640	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123554640C>A	ENST00000371130.3	-	24	4545	c.4482G>T	c.(4480-4482)atG>atT	p.M1494I	TENM1_ENST00000422452.2_Missense_Mutation_p.M1501I|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1494					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)										AAGGGGCTTTCATCTTTGCAT	0.463																																						ENST00000422452.2																			0											c.(4501-4503)atG>atT		teneurin transmembrane protein 1							111.0	98.0	103.0					X																	123554640		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123554640C>A	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.4482G>T	X.37:g.123554640C>A	ENSP00000360171:p.Met1494Ile					TENM1_ENST00000371130.3_Missense_Mutation_p.M1494I|STAG2_ENST00000469481.1_Intron	p.M1501I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					25	4566	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4503G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097614	0.37048	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.89617	-2.54;-2.54	5.49	4.58	0.56647	Six-bladed beta-propeller, TolB-like (1);	0.056923	0.64402	D	0.000001	T	0.74412	0.3713	N	0.02751	-0.505	0.36361	D	0.860725	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.75448	-0.3314	10	0.72032	D	0.01	.	10.5804	0.45252	0.0:0.7744:0.1449:0.0807	.	1500;1501;1494	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	1494;1501	ENSP00000360171:M1494I;ENSP00000403954:M1501I	ENSP00000360171:M1494I	M	-	3	0	ODZ1	123382321	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.662000	0.46766	2.301000	0.77427	0.600000	0.82982	ATG		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		48	60	1	0	4.18559e-23	1	5.84444e-23	48	60				
ABCB8	11194	broad.mit.edu	37	7	150739111	150739111	+	Missense_Mutation	SNP	G	G	A	rs144722322		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150739111G>A	ENST00000297504.6	+	15	1798	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	ABCB8_ENST00000542328.1_Missense_Mutation_p.D473N|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000358849.4_Missense_Mutation_p.D561N|ABCB8_ENST00000498578.1_Missense_Mutation_p.D561N			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	578	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.D561N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GGAAGCTTCCGATGAAGAGGT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19175	0.0		0.001	False		,,,				2504	0.0					ENST00000358849.4																			1	Substitution - Missense(1)	p.D561N(1)	lung(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1681-1683)Gat>Aat		ATP-binding cassette, sub-family B (MDR/TAP), member 8		G	ASN/ASP	0,4406		0,0,2203	61.0	63.0	63.0		1681	4.0	0.3	7	dbSNP_134	63	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ABCB8	NM_007188.3	23	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	possibly-damaging	561/719	150739111	6,13000	2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150739111G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1732G>A	7.37:g.150739111G>A	ENSP00000297504:p.Asp578Asn					ABCB8_ENST00000542328.1_Missense_Mutation_p.D473N|ABCB8_ENST00000498578.1_Missense_Mutation_p.D561N|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.D578N	p.D561N	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	1774	+			578			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1681G>A		.	.	.	.	.	.	.	.	.	.	G	16.31	3.087583	0.55968	0.0	6.98E-4	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	4.86	3.97	0.46021	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91355	0.7273	M	0.69463	2.115	0.80722	D	1	P;D;D;P	0.53312	0.759;0.959;0.959;0.949	B;P;P;P	0.51777	0.396;0.679;0.679;0.55	D	0.89791	0.3968	10	0.34782	T	0.22	-0.7636	12.273	0.54716	0.0:0.0:0.8293:0.1707	.	473;561;578;561	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	N	561;544;578;473;561	ENSP00000351717:D561N;ENSP00000297504:D578N;ENSP00000438776:D473N;ENSP00000418271:D561N	ENSP00000297504:D578N	D	+	1	0	ABCB8	150370044	1.000000	0.71417	0.270000	0.24601	0.003000	0.03518	6.489000	0.73641	1.253000	0.44018	-0.314000	0.08810	GAT		0.577	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		30	52	0	0	0	1	0	30	52				
NLRC4	58484	broad.mit.edu	37	2	32476392	32476392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32476392G>A	ENST00000404025.2	-	5	1029	c.541C>T	c.(541-543)Cga>Tga	p.R181*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.R181*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.R181*|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	181	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGGCAATTCGCTGCAGCAGA	0.572																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(541-543)Cga>Tga		NLR family, CARD domain containing 4							71.0	70.0	70.0					2																	32476392		2203	4300	6503	SO:0001587	stop_gained	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476392G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.541C>T	2.37:g.32476392G>A	ENSP00000385090:p.Arg181*					NLRC4_ENST00000360906.5_Nonsense_Mutation_p.R181*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.R181*|NLRC4_ENST00000342905.6_Intron	p.R181*			Q9NPP4	NLRC4_HUMAN			5	1029	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		181			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.541C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699330	0.96802	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.27	0.992	0.19819	.	0.323716	0.19190	N	0.120451	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-1.3178	9.4052	0.38457	0.0:0.0:0.2801:0.7198	.	.	.	.	X	181	.	ENSP00000354159:R181X	R	-	1	2	NLRC4	32329896	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	1.087000	0.30865	0.610000	0.30035	0.543000	0.68304	CGA		0.572	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		25	51	0	0	0	1	0	25	51				
SOCS2	8835	broad.mit.edu	37	12	93968612	93968612	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93968612C>A	ENST00000340600.2	+	3	852	c.254C>A	c.(253-255)tCt>tAt	p.S85Y	SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Missense_Mutation_p.S85Y|SOCS2_ENST00000549122.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000549206.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.S85Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	85	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.S85C(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CTAACAATATCTGTTAAAACA	0.363																																						ENST00000340600.2																			1	Substitution - Missense(1)	p.S85C(1)	cervix(1)	cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						c.(253-255)tCt>tAt		suppressor of cytokine signaling 2							80.0	77.0	78.0					12																	93968612		2203	4300	6503	SO:0001583	missense	8835				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	g.chr12:93968612C>A	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.254C>A	12.37:g.93968612C>A	ENSP00000339428:p.Ser85Tyr					SOCS2_ENST00000536696.2_Missense_Mutation_p.S85Y|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549206.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000549122.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.S85Y	p.S85Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN			3	852	+			85			SH2.		A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	c.254C>A	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384497	0.82792	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000548091;ENST00000549122;ENST00000549887;ENST00000551556	D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.84	5.84	0.93424	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97504	0.9183	H	0.98646	4.29	0.80722	D	1	P	0.43231	0.801	P	0.48873	0.593	D	0.98319	1.0527	10	0.87932	D	0	-0.7853	20.1346	0.98019	0.0:1.0:0.0:0.0	.	85	O14508	SOCS2_HUMAN	Y	85;85;85;33;85;85;85;85	ENSP00000339428:S85Y;ENSP00000448815:S85Y;ENSP00000442898:S85Y;ENSP00000447902:S85Y;ENSP00000447161:S85Y;ENSP00000448611:S85Y;ENSP00000449227:S85Y	ENSP00000339428:S85Y	S	+	2	0	SOCS2	92492743	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.554000	0.82212	2.765000	0.95021	0.655000	0.94253	TCT		0.363	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2			20	30	1	0	8.34094e-07	1	9.42356e-07	20	30				
RYR2	6262	broad.mit.edu	37	1	237895444	237895444	+	Missense_Mutation	SNP	G	G	T	rs551386577		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237895444G>T	ENST00000366574.2	+	78	11351	c.11034G>T	c.(11032-11034)gaG>gaT	p.E3678D	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.E3676D|RYR2_ENST00000542537.1_Missense_Mutation_p.E3662D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3678					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTAACAGAGAAATGGTATG	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15921	0.0		0.0	False		,,,				2504	0.0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11032-11034)gaG>gaT		ryanodine receptor 2 (cardiac)							83.0	83.0	83.0					1																	237895444		1849	4095	5944	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237895444G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11034G>T	1.37:g.237895444G>T	ENSP00000355533:p.Glu3678Asp					RYR2_ENST00000360064.6_Missense_Mutation_p.E3676D|RYR2_ENST00000542537.1_Missense_Mutation_p.E3662D	p.E3678D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		78	11351	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3678					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11034G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506991	0.64410	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97404	-4.37;-4.34;-4.37	5.62	4.7	0.59300	.	0.000000	0.64402	D	0.000010	D	0.98178	0.9398	M	0.84948	2.725	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.75484	0.986;0.91	D	0.98072	1.0399	10	0.72032	D	0.01	-19.5876	10.5054	0.44830	0.1625:0.0:0.8375:0.0	.	633;3678	B4DGV4;Q92736	.;RYR2_HUMAN	D	3678;3676;3662;633	ENSP00000355533:E3678D;ENSP00000353174:E3676D;ENSP00000443798:E3662D	ENSP00000353174:E3676D	E	+	3	2	RYR2	235962067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.578000	0.53892	2.661000	0.90470	0.655000	0.94253	GAG		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	43	1	0	0.000274275	1	0.000292037	8	43				
ZMYND8	23613	broad.mit.edu	37	20	45853141	45853141	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45853141T>C	ENST00000311275.7	-	19	3278	c.3025A>G	c.(3025-3027)Aag>Gag	p.K1009E	ZMYND8_ENST00000352431.2_Missense_Mutation_p.K983E|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K957E|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K1009E|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K1029E|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K877E|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K931E|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K900E|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K958E|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K1009E|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K1036E|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K963E|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K983E	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1009					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCCAGCTGCTTCTTCACCTCG	0.592																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(3025-3027)Aag>Gag		zinc finger, MYND-type containing 8							172.0	148.0	156.0					20																	45853141		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45853141T>C	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3025A>G	20.37:g.45853141T>C	ENSP00000312237:p.Lys1009Glu					ZMYND8_ENST00000355972.4_Missense_Mutation_p.K1009E|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K983E|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K957E|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K958E|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K1036E|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K900E|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K877E|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K931E|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K963E|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K983E|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K1029E|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K1009E	p.K1009E			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		19	3278	-			1009					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.3025A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.4|28.4	4.920322|4.920322	0.92249|0.92249	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|T;T;T;T;T;T;T;T;T;T;T	.|0.73363	.|-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;0.62;-0.74	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84638|0.84638	0.5516|0.5516	M|M	0.67953|0.67953	2.075|2.075	0.53005|0.53005	D|D	0.999966|0.999966	.|D;D;D;D;D;D;D;D;D;D;D;D;P;P;D;D	.|0.76494	.|0.997;0.999;0.997;0.998;0.999;0.998;0.999;0.998;0.998;0.997;0.997;0.997;0.608;0.728;0.998;0.997	.|D;D;D;D;D;D;D;D;D;D;D;D;B;P;D;D	.|0.87578	.|0.985;0.998;0.995;0.991;0.998;0.998;0.996;0.996;0.998;0.995;0.995;0.995;0.415;0.706;0.991;0.995	D|D	0.85251|0.85251	0.1044|0.1044	5|10	.|0.49607	.|T	.|0.09	-3.8904|-3.8904	15.543|15.543	0.76070|0.76070	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|877;1036;931;938;1029;963;958;983;983;1009;900;958;957;902;911;1009	.|B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	G|E	890|958;1009;877;964;1030;983;1009;1036;1009;900;983;931;957	.|ENSP00000354166:K958E;ENSP00000312237:K1009E;ENSP00000392964:K877E;ENSP00000335537:K983E;ENSP00000379577:K1009E;ENSP00000439800:K1036E;ENSP00000348246:K1009E;ENSP00000396725:K900E;ENSP00000418210:K983E;ENSP00000361093:K931E;ENSP00000443086:K957E	.|ENSP00000262975:K964E	E|K	-|-	2|1	0|0	ZMYND8|ZMYND8	45286548|45286548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.988000|7.988000	0.88194|0.88194	2.060000|2.060000	0.61445|0.61445	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.592	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		60	110	0	0	0	1	0	60	110				
TTN	7273	broad.mit.edu	37	2	179592343	179592343	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179592343G>A	ENST00000591111.1	-	66	19235	c.19011C>T	c.(19009-19011)agC>agT	p.S6337S	TTN_ENST00000589042.1_Silent_p.S6654S|TTN_ENST00000342992.6_Silent_p.S5410S|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13113	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAAGAGTCGCTACCAACAT	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19960-19962)agC>agT		titin							187.0	189.0	188.0					2																	179592343		2077	4219	6296	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592343G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19011C>T	2.37:g.179592343G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S5410S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.S6337S	p.S6654S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20186	-			6337			Ig-like 48.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.19962C>T																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	156	0	0	0	1	0	52	156				
VCL	7414	broad.mit.edu	37	10	75830449	75830449	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75830449G>A	ENST00000211998.4	+	3	355	c.261G>A	c.(259-261)aaG>aaA	p.K87K	VCL_ENST00000417648.2_Silent_p.K87K|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.K87K	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	87	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CTTGCACCAAGCTTGTCCAGG	0.468																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(259-261)aaG>aaA		vinculin							156.0	144.0	148.0					10																	75830449		2203	4300	6503	SO:0001819	synonymous_variant	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75830449G>A	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.261G>A	10.37:g.75830449G>A						VCL_ENST00000417648.2_Silent_p.K87K|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.K87K	p.K87K	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			3	355	+	Prostate(51;0.0112)		87			N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37	c.261G>A	CCDS7341.1																																																																																				0.468	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		31	65	0	0	0	1	0	31	65				
NLRP7	199713	broad.mit.edu	37	19	55450260	55450260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55450260C>A	ENST00000590030.1	-	3	1967	c.1927G>T	c.(1927-1929)Gaa>Taa	p.E643*	NLRP7_ENST00000340844.2_Nonsense_Mutation_p.E643*|NLRP7_ENST00000446217.1_Nonsense_Mutation_p.E671*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.E643*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.E643*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	643							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTTACCTTTCAAATTCAATG	0.483																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2011-2013)Gaa>Taa		NLR family, pyrin domain containing 7							88.0	83.0	85.0					19																	55450260		2203	4300	6503	SO:0001587	stop_gained	199713						ATP binding	g.chr19:55450260C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1927G>T	19.37:g.55450260C>A	ENSP00000465520:p.Glu643*					NLRP7_ENST00000448121.2_Nonsense_Mutation_p.E643*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.E643*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.E643*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.E643*	p.E671*			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2413	-			643					E9PE16|Q32MH8|Q7RTR1	Nonsense_Mutation	SNP	ENST00000590030.1	37	c.2011G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923838	0.92319	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	.	.	.	1.92	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.3493	0.26680	0.0:1.0:0.0:0.0	.	.	.	.	X	643;643;643;671;410	.	ENSP00000329568:E643X	E	-	1	0	NLRP7	60142072	0.000000	0.05858	0.097000	0.21041	0.016000	0.09150	0.290000	0.18975	1.384000	0.46424	0.462000	0.41574	GAA		0.483	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		30	77	1	0	5.60225e-13	1	7.13348e-13	30	77				
RUNX1	861	broad.mit.edu	37	21	36259341	36259341	+	Silent	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:36259341G>C	ENST00000344691.4	-	1	1646	c.69C>G	c.(67-69)ggC>ggG	p.G23G	RUNX1_ENST00000358356.5_Silent_p.G23G|RUNX1_ENST00000300305.3_Silent_p.G50G|RUNX1_ENST00000399240.1_Silent_p.G23G|RUNX1_ENST00000486278.2_Silent_p.G26G|RUNX1_ENST00000437180.1_Silent_p.G50G|RUNX1_ENST00000325074.5_Silent_p.G38G	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	23					behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F40fs*14(1)|p.R38fs*16(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGCTCATCTTGCCTGGGCTCA	0.692			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	ENST00000344691.4				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""		"""AML, preB- ALL, T-ALL"""		2	Deletion - Frameshift(2)	p.F40fs*14(1)|p.R38fs*16(1)	haematopoietic_and_lymphoid_tissue(2)	breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(67-69)ggC>ggG		runt-related transcription factor 1							13.0	16.0	15.0					21																	36259341		2167	4221	6388	SO:0001819	synonymous_variant	861				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36259341G>C	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.69C>G	21.37:g.36259341G>C						RUNX1_ENST00000399240.1_Silent_p.G23G|RUNX1_ENST00000358356.5_Silent_p.G23G|RUNX1_ENST00000437180.1_Silent_p.G50G|RUNX1_ENST00000325074.5_Silent_p.G38G|RUNX1_ENST00000486278.2_Silent_p.G26G|RUNX1_ENST00000300305.3_Silent_p.G50G	p.G23G	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN			1	1646	-			23					A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	c.69C>G	CCDS42922.1																																																																																				0.692	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			13	25	0	0	0	1	0	13	25				
GPR125	166647	broad.mit.edu	37	4	22390389	22390389	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:22390389C>T	ENST00000334304.5	-	19	3174	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	969					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.E969K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGATTTATTTCGCCATTTTCA	0.438																																						ENST00000334304.5																			1	Substitution - Missense(1)	p.E969K(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2905-2907)Gaa>Aaa		G protein-coupled receptor 125							94.0	94.0	94.0					4																	22390389		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390389C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2905G>A	4.37:g.22390389C>T	ENSP00000334952:p.Glu969Lys					GPR125_ENST00000282943.5_5'UTR	p.E969K	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3174	-		Breast(46;0.198)	969					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2905G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	7.267	0.606337	0.14002	.	.	ENSG00000152990	ENST00000334304	T	0.52526	0.66	5.84	5.84	0.93424	GPCR, family 2-like (1);	0.258007	0.44483	D	0.000442	T	0.43875	0.1267	L	0.51422	1.61	0.80722	D	1	P;D	0.57571	0.473;0.98	B;P	0.47044	0.14;0.535	T	0.40021	-0.9585	10	0.02654	T	1	-10.2902	14.3082	0.66397	0.0:0.9292:0.0:0.0708	.	826;969	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	K	969	ENSP00000334952:E969K	ENSP00000334952:E969K	E	-	1	0	GPR125	21999487	0.874000	0.30092	0.165000	0.22776	0.011000	0.07611	2.487000	0.45268	2.751000	0.94390	0.650000	0.86243	GAA		0.438	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			29	43	0	0	0	1	0	29	43				
FAM129A	116496	broad.mit.edu	37	1	184787866	184787866	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:184787866G>A	ENST00000367511.3	-	9	1272	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	RNU7-13P_ENST00000516413.1_RNA|FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	360					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S360*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ACTGAATCCCGAGCTCACTGG	0.542																																						ENST00000367511.3																			1	Substitution - Nonsense(1)	p.S360*(1)	lung(1)	autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1078-1080)tCg>tTg		family with sequence similarity 129, member A							178.0	171.0	173.0					1																	184787866		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184787866G>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1079C>T	1.37:g.184787866G>A	ENSP00000356481:p.Ser360Leu					FAM129A_ENST00000487074.1_5'UTR	p.S360L	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			9	1272	-			360					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1079C>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998161	0.74818	.	.	ENSG00000135842	ENST00000367511	T	0.11821	2.74	4.86	4.86	0.63082	.	0.299559	0.33180	N	0.005190	T	0.30978	0.0782	L	0.46157	1.445	0.40506	D	0.980698	D	0.89917	1.0	D	0.85130	0.997	T	0.01591	-1.1317	10	0.40728	T	0.16	-12.4499	16.5242	0.84326	0.0:0.0:1.0:0.0	.	360	Q9BZQ8	NIBAN_HUMAN	L	360	ENSP00000356481:S360L	ENSP00000356481:S360L	S	-	2	0	FAM129A	183054489	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	6.497000	0.73674	2.389000	0.81357	0.557000	0.71058	TCG		0.542	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			22	157	0	0	0	1	0	22	157				
SYTL5	94122	broad.mit.edu	37	X	37893260	37893260	+	Splice_Site	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:37893260A>T	ENST00000357972.5	+	2	664	c.118A>T	c.(118-120)Agg>Tgg	p.R40W	SYTL5_ENST00000297875.2_Splice_Site_p.R40W|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Splice_Site_p.R40W			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	40	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CAAGAGAATAAGGTAGTATTC	0.368																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.e2+1		synaptotagmin-like 5							60.0	54.0	56.0					X																	37893260		2202	4300	6502	SO:0001630	splice_region_variant	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37893260A>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.119+1A>T	X.37:g.37893260A>T						SYTL5_ENST00000456733.2_Splice_Site_p.R40_splice|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Splice_Site_p.R40_splice	p.R40_splice			Q8TDW5	SYTL5_HUMAN			2	664	+			40			RabBD.		A2RRF2	Splice_Site	SNP	ENST00000357972.5	37	c.119_splice	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377003	0.82682	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.78816	-1.21;-1.21;-1.21	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.043479	0.85682	D	0.000000	D	0.85643	0.5744	M	0.62723	1.935	0.38727	D	0.953579	D;D	0.89917	1.0;0.999	D;D	0.73708	0.976;0.981	D	0.88229	0.2902	10	0.87932	D	0	-23.2669	13.3169	0.60411	1.0:0.0:0.0:0.0	.	40;40	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	W	40	ENSP00000297875:R40W;ENSP00000350657:R40W;ENSP00000395220:R40W	ENSP00000297875:R40W	R	+	1	2	SYTL5	37778204	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.287000	0.59001	2.009000	0.58944	0.486000	0.48141	AGG		0.368	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	Missense_Mutation	6	19	0	0	0	1	0	6	19				
BDKRB1	623	broad.mit.edu	37	14	96730613	96730613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96730613G>A	ENST00000216629.6	+	3	1200	c.594G>A	c.(592-594)tgG>tgA	p.W198*	BDKRB1_ENST00000553356.1_Nonsense_Mutation_p.W198*|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	198					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ATGAGGCCTGGCACTTTGCAA	0.567																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(592-594)tgG>tgA		bradykinin receptor B1							86.0	77.0	80.0					14																	96730613		2203	4300	6503	SO:0001587	stop_gained	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730613G>A	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.594G>A	14.37:g.96730613G>A	ENSP00000216629:p.Trp198*					RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Nonsense_Mutation_p.W198*	p.W198*	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	1200	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	198					A8K7F5|Q546S7|Q8N0Y8	Nonsense_Mutation	SNP	ENST00000216629.6	37	c.594G>A	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	G	40	7.995924	0.98602	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8871	17.1764	0.86843	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000216629:W198X	W	+	3	0	BDKRB1	95800366	1.000000	0.71417	0.998000	0.56505	0.310000	0.27922	4.708000	0.61859	2.286000	0.76751	0.462000	0.41574	TGG		0.567	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			30	43	0	0	0	1	0	30	43				
ESCO1	114799	broad.mit.edu	37	18	19144267	19144267	+	Missense_Mutation	SNP	C	C	T	rs200657231		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:19144267C>T	ENST00000269214.5	-	7	2655	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	573					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.R573Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AGAATGATTTCGTGGTGTCTC	0.294																																						ENST00000269214.5																			1	Substitution - Missense(1)	p.R573Q(1)	large_intestine(1)	breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1717-1719)cGa>cAa		establishment of sister chromatid cohesion N-acetyltransferase 1							77.0	73.0	74.0					18																	19144267		2203	4298	6501	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19144267C>T	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1718G>A	18.37:g.19144267C>T	ENSP00000269214:p.Arg573Gln						p.R573Q	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			7	2655	-			573					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.1718G>A	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395129	0.25205	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.57107	0.42;2.01	4.92	3.06	0.35304	.	0.502328	0.18216	N	0.148031	T	0.28167	0.0695	N	0.08118	0	0.25621	N	0.986406	B	0.12630	0.006	B	0.04013	0.001	T	0.16571	-1.0398	10	0.12766	T	0.61	-3.549	10.2965	0.43627	0.0:0.154:0.6989:0.147	.	573	Q5FWF5	ESCO1_HUMAN	Q	573	ENSP00000269214:R573Q;ENSP00000372763:R573Q	ENSP00000269214:R573Q	R	-	2	0	ESCO1	17398265	1.000000	0.71417	0.998000	0.56505	0.504000	0.33889	1.392000	0.34486	0.552000	0.29026	-0.165000	0.13383	CGA		0.294	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		5	13	0	0	0	1	0	5	13				
GPR15	2838	broad.mit.edu	37	3	98251633	98251633	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98251633C>A	ENST00000284311.3	+	1	891	c.756C>A	c.(754-756)gtC>gtA	p.V252V		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	252					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CCTTTCTTGTCTCCTGGCTGC	0.453																																						ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(754-756)gtC>gtA		G protein-coupled receptor 15							67.0	67.0	67.0					3																	98251633		2203	4300	6503	SO:0001819	synonymous_variant	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251633C>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.756C>A	3.37:g.98251633C>A							p.V252V	NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN		Lung(72;0.246)	1	891	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	252					Q3MIL4|Q6ISN6	Silent	SNP	ENST00000284311.3	37	c.756C>A	CCDS2931.1																																																																																				0.453	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			26	53	1	0	4.26978e-12	1	5.35675e-12	26	53				
SLC13A3	64849	broad.mit.edu	37	20	45194982	45194982	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45194982C>A	ENST00000279027.4	-	11	1398	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	SLC13A3_ENST00000495082.1_Missense_Mutation_p.E413D|SLC13A3_ENST00000435032.1_Missense_Mutation_p.E45D|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E410D|SLC13A3_ENST00000472148.1_Missense_Mutation_p.E378D|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E378D|SLC13A3_ENST00000290317.5_Missense_Mutation_p.E413D	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	460					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGGCACATTCTCCAGGGGGT	0.617																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1378-1380)gaG>gaT		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						91.0	93.0	93.0					20																	45194982		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194982C>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1380G>T	20.37:g.45194982C>A	ENSP00000279027:p.Glu460Asp					SLC13A3_ENST00000472148.1_Missense_Mutation_p.E378D|SLC13A3_ENST00000435032.1_Missense_Mutation_p.E45D|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E413D|SLC13A3_ENST00000290317.5_Missense_Mutation_p.E413D|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E410D|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E378D	p.E460D	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			11	1398	-		Myeloproliferative disorder(115;0.0122)	460					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1380G>T	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324424	0.41197	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.02837	4.14;4.14;4.14;4.14;4.14;4.14;4.14	5.25	4.3	0.51218	.	0.112351	0.64402	D	0.000012	T	0.07908	0.0198	L	0.37630	1.12	0.80722	D	1	P;D;D;D;D;D	0.71674	0.952;0.998;0.975;0.971;0.977;0.997	P;P;P;P;P;D	0.68621	0.828;0.904;0.827;0.718;0.885;0.959	T	0.48958	-0.8988	10	0.22706	T	0.39	-18.6572	13.8396	0.63430	0.0:0.9259:0.0:0.0741	.	410;45;378;413;362;460	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	D	413;378;45;460;378;410;413	ENSP00000290317:E413D;ENSP00000379648:E378D;ENSP00000403394:E45D;ENSP00000279027:E460D;ENSP00000420177:E378D;ENSP00000415852:E410D;ENSP00000419621:E413D	ENSP00000279027:E460D	E	-	3	2	SLC13A3	44628389	0.923000	0.31300	0.903000	0.35520	0.445000	0.32107	1.554000	0.36266	1.208000	0.43306	-0.258000	0.10820	GAG		0.617	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			43	95	1	0	1.41504e-22	1	1.969e-22	43	95				
SLC6A18	348932	broad.mit.edu	37	5	1246126	1246126	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1246126C>T	ENST00000324642.3	+	12	1943	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	607					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCCCAGACACGGACATGCGC	0.736																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1819-1821)aCg>aTg		solute carrier family 6 (neutral amino acid transporter), member 18							13.0	17.0	16.0					5																	1246126		2190	4276	6466	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1246126C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1820C>T	5.37:g.1246126C>T	ENSP00000323549:p.Thr607Met						p.T607M	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		12	1943	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		607						Missense_Mutation	SNP	ENST00000324642.3	37	c.1820C>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302484	0.23736	.	.	ENSG00000164363	ENST00000324642	T	0.74632	-0.86	1.32	0.183	0.15082	.	7739.210000	0.00582	U	0.000333	T	0.53626	0.1808	N	0.08118	0	0.22701	N	0.998837	B	0.25235	0.121	B	0.06405	0.002	T	0.43814	-0.9368	10	0.45353	T	0.12	.	4.5561	0.12136	0.0:0.7255:0.0:0.2745	.	607	Q96N87	S6A18_HUMAN	M	607	ENSP00000323549:T607M	ENSP00000323549:T607M	T	+	2	0	SLC6A18	1299126	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.494000	0.06451	-0.252000	0.09528	0.121000	0.15741	ACG		0.736	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		3	12	0	0	0	1	0	3	12				
WAS	7454	broad.mit.edu	37	X	48542671	48542671	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48542671G>T	ENST00000376701.4	+	2	207		c.e2-1		WAS_ENST00000483750.1_Splice_Site	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome						actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TCCTCTCCCAGACGCTGGCCA	0.602			"""Mis, N, F, S"""			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28	GRCh37	HS040017	WAS	S		c.e2-1		Wiskott-Aldrich syndrome							54.0	46.0	49.0					X																	48542671		2203	4300	6503	SO:0001630	splice_region_variant	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48542671G>T	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.133-1G>T	X.37:g.48542671G>T						WAS_ENST00000483750.1_Splice_Site		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			2	207	+		all_lung(315;1.27e-10)						Q9BU11|Q9UNJ9	Splice_Site	SNP	ENST00000376701.4	37		CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572204	0.86542	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8325	0.63389	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WAS	48427615	1.000000	0.71417	0.789000	0.31954	0.719000	0.41307	6.575000	0.74018	1.830000	0.53286	0.287000	0.19450	.		0.602	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377	Intron	26	43	1	0	2.12542e-12	1	2.68024e-12	26	43				
HEATR6	63897	broad.mit.edu	37	17	58137400	58137400	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58137400G>T	ENST00000184956.6	-	10	1490	c.1474C>A	c.(1474-1476)Ctt>Att	p.L492I	HEATR6_ENST00000585976.1_Missense_Mutation_p.L492I	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	492							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GCAACAGAAAGAAACTGCTTT	0.433																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1474-1476)Ctt>Att		HEAT repeat containing 6							138.0	135.0	136.0					17																	58137400		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58137400G>T	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1474C>A	17.37:g.58137400G>T	ENSP00000184956:p.Leu492Ile					HEATR6_ENST00000585976.1_Missense_Mutation_p.L492I	p.L492I	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		10	1490	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		492					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1474C>A	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321187	0.95682	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.65549	-0.16	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81503	0.4836	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80625	-0.1299	10	0.44086	T	0.13	-12.7377	19.2306	0.93839	0.0:0.0:1.0:0.0	.	339;492	E7ESB9;Q6AI08	.;HEAT6_HUMAN	I	492;339	ENSP00000184956:L492I	ENSP00000184956:L492I	L	-	1	0	HEATR6	55492182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.278000	0.95766	2.869000	0.98440	0.558000	0.71614	CTT		0.433	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		21	128	1	0	1.87028e-06	1	2.10206e-06	21	128				
FAM120B	84498	broad.mit.edu	37	6	170627407	170627407	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:170627407A>G	ENST00000476287.1	+	2	1037	c.929A>G	c.(928-930)aAa>aGa	p.K310R	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.K333R|FAM120B_ENST00000540480.1_Missense_Mutation_p.K322R	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	310					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCAGGACAAAAATCTCCATGG	0.373																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(928-930)aAa>aGa		family with sequence similarity 120B							54.0	63.0	60.0					6																	170627407		2198	4298	6496	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627407A>G	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.929A>G	6.37:g.170627407A>G	ENSP00000417970:p.Lys310Arg					FAM120B_ENST00000540480.1_Missense_Mutation_p.K322R|FAM120B_ENST00000537664.1_Missense_Mutation_p.K333R|FAM120B_ENST00000252510.9_Intron	p.K310R	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1037	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	310					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.929A>G	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926240	0.34002	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08634	3.07;3.07;3.08	5.36	-0.205	0.13196	.	1.074670	0.06985	N	0.820553	T	0.02533	0.0077	L	0.60455	1.87	0.20975	N	0.999817	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.45775	-0.9238	10	0.39692	T	0.17	-4.2208	2.585	0.04828	0.4643:0.2398:0.065:0.2309	.	310;310	Q96EK7;F2Z2E1	F120B_HUMAN;.	R	322;333;310	ENSP00000444125:K322R;ENSP00000440125:K333R;ENSP00000417970:K310R	ENSP00000436640:K310R	K	+	2	0	FAM120B	170469332	0.046000	0.20272	0.790000	0.31976	0.887000	0.51463	0.057000	0.14279	-0.185000	0.10550	0.528000	0.53228	AAA		0.373	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		35	69	0	0	0	1	0	35	69				
UHRF1BP1L	23074	broad.mit.edu	37	12	100441926	100441926	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100441926G>T	ENST00000279907.7	-	18	3979	c.3767C>A	c.(3766-3768)tCt>tAt	p.S1256Y	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S906Y	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1256										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AAATCTCAGAGAAATCTCAGG	0.358																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3766-3768)tCt>tAt		UHRF1 binding protein 1-like							56.0	57.0	57.0					12																	100441926		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100441926G>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3767C>A	12.37:g.100441926G>T	ENSP00000279907:p.Ser1256Tyr					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S906Y	p.S1256Y	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			18	3979	-			1256					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.3767C>A	CCDS31882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.75|16.75	3.209919|3.209919	0.58343|0.58343	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000548712|ENST00000279907;ENST00000545232	.|T;T	.|0.10477	.|2.87;2.87	5.88|5.88	5.0|5.0	0.66597|0.66597	.|.	.|0.331511	.|0.34245	.|N	.|0.004131	T|T	0.10078|0.10078	0.0247|0.0247	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|P	.|0.35821	.|0.523	.|B	.|0.33521	.|0.165	T|T	0.08700|0.08700	-1.0709|-1.0709	5|10	.|0.62326	.|D	.|0.03	-6.1657|-6.1657	5.6705|5.6705	0.17719|0.17719	0.0743:0.2254:0.5794:0.1208|0.0743:0.2254:0.5794:0.1208	.|.	.|1256	.|A0JNW5	.|UH1BL_HUMAN	I|Y	17|1256;906	.|ENSP00000279907:S1256Y;ENSP00000444824:S906Y	.|ENSP00000279907:S1256Y	L|S	-|-	1|2	0|0	UHRF1BP1L|UHRF1BP1L	98966057|98966057	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.821000|1.821000	0.39041|0.39041	1.510000|1.510000	0.48803|0.48803	0.580000|0.580000	0.79431|0.79431	CTC|TCT		0.358	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		14	39	1	0	6.49762e-13	1	8.24929e-13	14	39				
CA10	56934	broad.mit.edu	37	17	49731017	49731017	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:49731017A>C	ENST00000285273.4	-	6	1657	c.546T>G	c.(544-546)gtT>gtG	p.V182V	CA10_ENST00000570565.1_Silent_p.V107V|CA10_ENST00000442502.2_Silent_p.V182V|CA10_ENST00000340813.6_Silent_p.V188V|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000451037.2_Silent_p.V182V	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	182					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TAAATATAGAAACTACCACCA	0.403																																						ENST00000451037.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(544-546)gtT>gtG		carbonic anhydrase X																																				SO:0001819	synonymous_variant	56934				brain development			g.chr17:49731017A>C	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.546T>G	17.37:g.49731017A>C						CA10_ENST00000285273.4_Silent_p.V182V|CA10_ENST00000442502.2_Silent_p.V182V|CA10_ENST00000340813.6_Silent_p.V188V|CA10_ENST00000570565.1_Silent_p.V107V|CA10_ENST00000571918.1_5'UTR	p.V182V	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		5	1486	-			182					B2R7J0|B4DGL6	Silent	SNP	ENST00000285273.4	37	c.546T>G	CCDS32684.1																																																																																				0.403	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		11	13	0	0	0	1	0	11	13				
GLRA3	8001	broad.mit.edu	37	4	175565138	175565138	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:175565138C>A	ENST00000274093.3	-	10	1696	c.1194G>T	c.(1192-1194)atG>atT	p.M398I	GLRA3_ENST00000340217.5_Missense_Mutation_p.M383I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	398					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CCTTTGGAGTCATGCCATCCT	0.473																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(1192-1194)atG>atT		glycine receptor, alpha 3	Glycine(DB00145)						170.0	142.0	151.0					4																	175565138		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175565138C>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1194G>T	4.37:g.175565138C>A	ENSP00000274093:p.Met398Ile					GLRA3_ENST00000340217.5_Missense_Mutation_p.M383I	p.M398I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	10	1696	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	398					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.1194G>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	C	1.142	-0.649308	0.03506	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.83250	-1.7;-1.7	5.98	0.492	0.16872	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.834183	0.11319	N	0.576277	T	0.61515	0.2353	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	0.46527	-0.9185	10	0.27082	T	0.32	.	4.0737	0.09894	0.2013:0.5336:0.0902:0.1749	.	383;398	O75311-2;O75311	.;GLRA3_HUMAN	I	398;383	ENSP00000274093:M398I;ENSP00000345284:M383I	ENSP00000274093:M398I	M	-	3	0	GLRA3	175801713	0.006000	0.16342	0.140000	0.22221	0.148000	0.21650	-0.128000	0.10531	0.099000	0.17552	-0.282000	0.10007	ATG		0.473	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			21	55	1	0	3.51602e-12	1	4.42195e-12	21	55				
RPS6KA5	9252	broad.mit.edu	37	14	91338638	91338638	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:91338638A>G	ENST00000261991.3	-	17	2362	c.2189T>C	c.(2188-2190)tTt>tCt	p.F730S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.F651S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	730					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTGAAGGCAAAACCCCTCTCT	0.458																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(2188-2190)tTt>tCt		ribosomal protein S6 kinase, 90kDa, polypeptide 5							77.0	71.0	73.0					14																	91338638		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91338638A>G	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2189T>C	14.37:g.91338638A>G	ENSP00000261991:p.Phe730Ser					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.F651S	p.F730S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	17	2362	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	730					O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.2189T>C	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768103	0.69878	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.66995	-0.24;-0.24	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.049158	0.85682	D	0.000000	T	0.79534	0.4462	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80614	-0.1304	10	0.52906	T	0.07	.	15.4635	0.75381	1.0:0.0:0.0:0.0	.	730	O75582	KS6A5_HUMAN	S	730;651	ENSP00000261991:F730S;ENSP00000442803:F651S	ENSP00000261991:F730S	F	-	2	0	RPS6KA5	90408391	1.000000	0.71417	0.820000	0.32676	0.848000	0.48234	9.229000	0.95273	2.111000	0.64477	0.533000	0.62120	TTT		0.458	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		17	22	0	0	0	1	0	17	22				
RACGAP1	29127	broad.mit.edu	37	12	50410486	50410486	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50410486T>G	ENST00000427314.2	-	4	236	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	RACGAP1_ENST00000547905.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000454520.2_Missense_Mutation_p.M5L|RACGAP1_ENST00000312377.5_Missense_Mutation_p.M5L|RACGAP1_ENST00000434422.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000551016.1_Missense_Mutation_p.M5L	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ACATTCAGCATCATAGTATCC	0.463																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(13-15)Atg>Ctg		Rac GTPase activating protein 1							127.0	136.0	133.0					12																	50410486		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50410486T>G		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.13A>C	12.37:g.50410486T>G	ENSP00000404190:p.Met5Leu					RACGAP1_ENST00000551016.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000547905.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000427314.2_Missense_Mutation_p.M5L|RACGAP1_ENST00000312377.5_Missense_Mutation_p.M5L|RACGAP1_ENST00000454520.2_Missense_Mutation_p.M5L	p.M5L			Q9H0H5	RGAP1_HUMAN			3	314	-			5						Missense_Mutation	SNP	ENST00000427314.2	37	c.13A>C	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	T	6.028	0.373576	0.11409	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000546764;ENST00000551876;ENST00000549777;ENST00000550651;ENST00000552004	T;T;T;T;T;T;T	0.68479	1.9;1.9;1.9;1.9;1.9;1.9;-0.33	5.96	5.96	0.96718	.	0.141236	0.64402	D	0.000001	T	0.47525	0.1450	L	0.27053	0.805	0.31077	N	0.712335	B	0.02656	0.0	B	0.01281	0.0	T	0.46345	-0.9198	10	0.10636	T	0.68	-6.0464	7.5749	0.27931	0.0:0.0729:0.1423:0.7848	.	5	Q9H0H5	RGAP1_HUMAN	L	5;5;5;5;5;5;5;5;17;5;5;5;5;5;5;5	ENSP00000404190:M5L;ENSP00000309871:M5L;ENSP00000413241:M5L;ENSP00000404808:M5L;ENSP00000449374:M5L;ENSP00000449370:M5L;ENSP00000449620:M17L	ENSP00000309871:M5L	M	-	1	0	RACGAP1	48696753	0.860000	0.29831	0.937000	0.37676	0.969000	0.65631	1.074000	0.30703	2.284000	0.76573	0.528000	0.53228	ATG		0.463	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		49	90	0	0	0	1	0	49	90				
IFNA2	3440	broad.mit.edu	37	9	21384820	21384820	+	Missense_Mutation	SNP	A	A	C	rs555011242		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21384820A>C	ENST00000380206.2	-	1	576	c.509T>G	c.(508-510)aTc>aGc	p.I170S		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	170					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		AGATCTCATGATTTCTGCTCT	0.383																																						ENST00000380206.2																			0				breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13						c.(508-510)aTc>aGc		interferon, alpha 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						199.0	199.0	199.0					9																	21384820		2203	4300	6503	SO:0001583	missense	3440				blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21384820A>C		CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"""Interferons"""	5423	protein-coding gene	gene with protein product	"""alpha-2a interferon"", ""interferon alpha 2b"", ""interferon alpha A"""	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.509T>G	9.37:g.21384820A>C	ENSP00000369554:p.Ile170Ser						p.I170S	NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	576	-			170					H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	ENST00000380206.2	37	c.509T>G	CCDS6506.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886542	0.33348	.	.	ENSG00000188379	ENST00000380206	T	0.05025	3.51	3.09	0.589	0.17452	.	0.548020	0.19490	N	0.113013	T	0.26629	0.0651	H	0.94222	3.51	0.09310	N	1	D	0.61080	0.989	D	0.87578	0.998	T	0.11518	-1.0584	10	0.87932	D	0	.	3.0303	0.06104	0.6627:0.0:0.1254:0.2118	.	170	Q6DJX8	.	S	170	ENSP00000369554:I170S	ENSP00000369554:I170S	I	-	2	0	IFNA2	21374820	0.000000	0.05858	0.013000	0.15412	0.048000	0.14542	0.853000	0.27777	-0.069000	0.12931	0.397000	0.26171	ATC		0.383	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605		81	141	0	0	0	1	0	81	141				
CHSY3	337876	broad.mit.edu	37	5	129521284	129521284	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:129521284T>C	ENST00000305031.4	+	3	2807	c.2449T>C	c.(2449-2451)Tct>Cct	p.S817P		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	817					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGTCATTCTATCTGGCTTAAG	0.408																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(2449-2451)Tct>Cct		chondroitin sulfate synthase 3							84.0	83.0	83.0					5																	129521284		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129521284T>C	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2449T>C	5.37:g.129521284T>C	ENSP00000302629:p.Ser817Pro						p.S817P	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2807	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	817					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.2449T>C	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020062	0.35606	.	.	ENSG00000198108	ENST00000305031	T	0.35973	1.28	3.88	2.69	0.31865	.	0.128116	0.35585	N	0.003115	T	0.46308	0.1386	M	0.86864	2.845	0.49915	D	0.999839	B	0.32382	0.368	B	0.38500	0.275	T	0.47129	-0.9141	9	.	.	.	.	11.0981	0.48157	0.0:0.0:0.1555:0.8445	.	817	Q70JA7	CHSS3_HUMAN	P	817	ENSP00000302629:S817P	.	S	+	1	0	CHSY3	129549183	1.000000	0.71417	0.514000	0.27761	0.910000	0.53928	3.229000	0.51278	0.822000	0.34565	0.528000	0.53228	TCT		0.408	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		4	56	0	0	0	1	0	4	56				
ZDHHC22	283576	broad.mit.edu	37	14	77605688	77605688	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77605688A>G	ENST00000319374.4	-	2	596	c.394T>C	c.(394-396)Tac>Cac	p.Y132H	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	132					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGGGAGGTGTAGAGGCAGAAC	0.607																																						ENST00000319374.4																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(394-396)Tac>Cac		zinc finger, DHHC-type containing 22							35.0	42.0	39.0					14																	77605688		2184	4265	6449	SO:0001583	missense	283576					integral to membrane	acyltransferase activity|zinc ion binding	g.chr14:77605688A>G	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.394T>C	14.37:g.77605688A>G	ENSP00000318222:p.Tyr132His					RP11-463C8.4_ENST00000557752.1_Intron	p.Y132H	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	2	596	-			132					A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	37	c.394T>C	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042634	0.35989	.	.	ENSG00000177108	ENST00000319374	T	0.26957	1.7	5.39	5.39	0.77823	Zinc finger, DHHC-type, palmitoyltransferase (1);Sterol-sensing domain (1);	0.134270	0.52532	D	0.000080	T	0.28830	0.0715	M	0.75264	2.295	0.49051	D	0.999744	B	0.19073	0.033	B	0.22152	0.038	T	0.12116	-1.0560	10	0.40728	T	0.16	.	8.01	0.30347	0.8472:0.0:0.1528:0.0	.	132	Q8N966	ZDH22_HUMAN	H	132	ENSP00000318222:Y132H	ENSP00000318222:Y132H	Y	-	1	0	ZDHHC22	76675441	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.044000	0.64214	2.035000	0.60131	0.459000	0.35465	TAC		0.607	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976		8	5	0	0	0	1	0	8	5				
ROS1	6098	broad.mit.edu	37	6	117609891	117609891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:117609891C>A	ENST00000368508.3	-	43	7006	c.6808G>T	c.(6808-6810)Gaa>Taa	p.E2270*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.E2264*	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2270					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E2270K(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTAACCCTTCTCGGTTCTTC	0.408			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	2	Substitution - Missense(2)	p.E2270K(2)	kidney(2)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(6808-6810)Gaa>Taa		c-ros oncogene 1 , receptor tyrosine kinase							79.0	79.0	79.0					6																	117609891		2203	4300	6503	SO:0001587	stop_gained	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117609891C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6808G>T	6.37:g.117609891C>A	ENSP00000357494:p.Glu2270*					ROS1_ENST00000368507.3_Nonsense_Mutation_p.E2264*	p.E2270*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	43	7006	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2270					Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	c.6808G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	47	13.205311	0.99727	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	4.5	3.61	0.41365	.	0.112123	0.38959	N	0.001514	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.4372	0.44443	0.0:0.906:0.0:0.094	.	.	.	.	X	2270;2264	.	ENSP00000357493:E2264X	E	-	1	0	ROS1	117716584	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.680000	0.46918	2.337000	0.79520	0.563000	0.77884	GAA		0.408	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			20	27	1	0	1.33834e-09	1	1.61283e-09	20	27				
NDFIP1	80762	broad.mit.edu	37	5	141524180	141524180	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141524180C>T	ENST00000253814.4	+	7	1077	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	203					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAAAGTTCGGAAGATGCC	0.323																																						ENST00000253814.4																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(607-609)Cgg>Tgg		Nedd4 family interacting protein 1							96.0	112.0	107.0					5																	141524180		2195	4298	6493	SO:0001583	missense	80762				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	g.chr5:141524180C>T	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.607C>T	5.37:g.141524180C>T	ENSP00000253814:p.Arg203Trp						p.R203W	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1077	+		all_hematologic(541;0.0999)	203					B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Missense_Mutation	SNP	ENST00000253814.4	37	c.607C>T	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593325	0.86953	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76820	-0.2818	9	0.87932	D	0	-9.89	15.3198	0.74112	0.1484:0.8516:0.0:0.0	.	203	Q9BT67	NFIP1_HUMAN	W	203	.	ENSP00000253814:R203W	R	+	1	2	NDFIP1	141504364	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.986000	0.49370	2.708000	0.92522	0.563000	0.77884	CGG		0.323	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571		37	71	0	0	0	1	0	37	71				
LMAN2L	81562	broad.mit.edu	37	2	97373532	97373532	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97373532T>C	ENST00000264963.4	-	7	845	c.823A>G	c.(823-825)Aca>Gca	p.T275A	LMAN2L_ENST00000537039.1_Missense_Mutation_p.T137A|LMAN2L_ENST00000377079.4_Missense_Mutation_p.T286A|FER1L5_ENST00000457909.1_RNA|LMAN2L_ENST00000534882.1_Missense_Mutation_p.T130A|LMAN2L_ENST00000426463.2_Missense_Mutation_p.T141A	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	275					ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTCTCCACTGTCAGTTCAAAC	0.453																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(823-825)Aca>Gca		lectin, mannose-binding 2-like							108.0	108.0	108.0					2																	97373532		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97373532T>C	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.823A>G	2.37:g.97373532T>C	ENSP00000264963:p.Thr275Ala					LMAN2L_ENST00000537039.1_Missense_Mutation_p.T137A|LMAN2L_ENST00000534882.1_Missense_Mutation_p.T130A|LMAN2L_ENST00000426463.2_Missense_Mutation_p.T141A|LMAN2L_ENST00000377079.4_Missense_Mutation_p.T286A	p.T275A	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			7	845	-			275					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.823A>G	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646812	0.47258	.	.	ENSG00000114988	ENST00000264963;ENST00000377079;ENST00000426463;ENST00000537039;ENST00000534882	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.106709	0.64402	D	0.000006	T	0.51652	0.1687	L	0.43923	1.385	0.58432	D	0.999997	B;B;P;B;B	0.38420	0.37;0.09;0.63;0.081;0.117	B;B;B;B;B	0.34873	0.191;0.158;0.191;0.061;0.119	T	0.49744	-0.8907	10	0.15499	T	0.54	.	14.8095	0.69982	0.0:0.0:0.0:1.0	.	130;148;141;286;275	B4DVH1;B4DI83;B4DSH3;Q9H0V9-2;Q9H0V9	.;.;.;.;LMA2L_HUMAN	A	275;286;141;137;130	ENSP00000264963:T275A;ENSP00000366280:T286A;ENSP00000396391:T141A;ENSP00000441701:T137A;ENSP00000438501:T130A	ENSP00000264963:T275A	T	-	1	0	LMAN2L	96737259	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	5.877000	0.69675	2.129000	0.65627	0.533000	0.62120	ACA		0.453	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		24	67	0	0	0	1	0	24	67				
CLTCL1	8218	broad.mit.edu	37	22	19241726	19241726	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19241726T>G	ENST00000263200.10	-	3	347	c.275A>C	c.(274-276)aAt>aCt	p.N92T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.N92T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.N92T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	92	Globular terminal domain.|WD40-like repeat 2.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CATCTCAATATTAAAGATCTG	0.343			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(274-276)aAt>aCt		clathrin, heavy chain-like 1							63.0	60.0	61.0					22																	19241726		1831	4102	5933	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19241726T>G		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.275A>C	22.37:g.19241726T>G	ENSP00000445677:p.Asn92Thr					CLTCL1_ENST00000353891.5_Missense_Mutation_p.N92T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.N92T	p.N92T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			3	347	-	Colorectal(54;0.0993)		92			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.275A>C	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014364	0.75161	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926;ENST00000449918	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	3.9	3.9	0.45041	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.64402	U	0.000001	T	0.60637	0.2284	H	0.94698	3.57	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.85130	0.981;0.997	T	0.72824	-0.4176	10	0.87932	D	0	-6.9309	12.8774	0.57998	0.0:0.0:0.0:1.0	.	92;92	P53675-2;P53675	.;CLH2_HUMAN	T	92;92;92;113	ENSP00000439662:N92T;ENSP00000445677:N92T;ENSP00000441158:N92T;ENSP00000443264:N113T	ENSP00000445677:N92T	N	-	2	0	CLTCL1	17621726	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.126000	0.77201	1.613000	0.50231	0.460000	0.39030	AAT		0.343	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		14	18	0	0	0	1	0	14	18				
LRRC6	23639	broad.mit.edu	37	8	133627334	133627334	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133627334G>T	ENST00000519595.1	-	8	1022	c.924C>A	c.(922-924)ttC>ttA	p.F308L	LRRC6_ENST00000250173.1_Missense_Mutation_p.F308L|LRRC6_ENST00000518642.1_Missense_Mutation_p.F308L			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	308	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTTTCAAAGAGAAGTCAATTC	0.318																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(922-924)ttC>ttA		leucine rich repeat containing 6							74.0	77.0	76.0					8																	133627334		2202	4293	6495	SO:0001583	missense	23639					cytoplasm		g.chr8:133627334G>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.924C>A	8.37:g.133627334G>T	ENSP00000429791:p.Phe308Leu					LRRC6_ENST00000518642.1_Missense_Mutation_p.F308L|LRRC6_ENST00000250173.1_Missense_Mutation_p.F308L	p.F308L			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		8	1022	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		308			CS.		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.924C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.902671|2.902671	0.52227|0.52227	.|.	.|.	ENSG00000129295|ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414|ENST00000519085	T;T;T|.	0.67865|.	-0.17;-0.29;-0.17|.	5.2|5.2	3.37|3.37	0.38596|0.38596	CS-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79358|0.79358	0.4432|0.4432	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72338|.	0.977|.	T|T	0.82242|0.82242	-0.0554|-0.0554	10|5	0.62326|.	D|.	0.03|.	-12.0019|-12.0019	9.6579|9.6579	0.39936|0.39936	0.1752:0.0:0.8248:0.0|0.1752:0.0:0.8248:0.0	.|.	308|.	Q86X45|.	LRRC6_HUMAN|.	L|I	308|30	ENSP00000429791:F308L;ENSP00000428610:F308L;ENSP00000250173:F308L|.	ENSP00000250173:F308L|.	F|L	-|-	3|1	2|0	LRRC6|LRRC6	133696516|133696516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.389000|0.389000	0.30415|0.30415	2.424000|2.424000	0.44714|0.44714	1.334000|1.334000	0.45468|0.45468	0.563000|0.563000	0.77884|0.77884	TTC|CTC		0.318	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		5	44	1	0	0.000602214	1	0.000636035	5	44				
LARP4B	23185	broad.mit.edu	37	10	876893	876893	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:876893C>A	ENST00000316157.3	-	8	815	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	259	RRM.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGTAAATTATCTCCTTTAAAT	0.284																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(775-777)Gat>Tat		La ribonucleoprotein domain family, member 4B							85.0	94.0	91.0					10																	876893		2201	4298	6499	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:876893C>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.775G>T	10.37:g.876893C>A	ENSP00000326128:p.Asp259Tyr						p.D259Y	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			8	815	-			259			RRM.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.775G>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680081	0.68042	.	.	ENSG00000107929	ENST00000316157	T	0.33865	1.39	5.08	4.14	0.48551	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.192895	0.53938	D	0.000056	T	0.44456	0.1294	L	0.56769	1.78	0.58432	D	0.999997	P	0.46656	0.882	P	0.50049	0.629	T	0.39860	-0.9593	10	0.51188	T	0.08	-9.9723	12.4001	0.55407	0.0:0.9135:0.0:0.0865	.	259	Q92615	LAR4B_HUMAN	Y	259	ENSP00000326128:D259Y	ENSP00000326128:D259Y	D	-	1	0	LARP4B	866893	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.887000	0.56197	1.196000	0.43129	0.563000	0.77884	GAT		0.284	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		18	33	1	0	2.35188e-11	1	2.92451e-11	18	33				
ZGRF1	55345	broad.mit.edu	37	4	113540667	113540667	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113540667C>T	ENST00000505019.1	-	6	656	c.531G>A	c.(529-531)gaG>gaA	p.E177E	C4orf21_ENST00000309071.5_Silent_p.E177E|C4orf21_ENST00000445203.2_Silent_p.E146E	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		177						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCACAATGTTCTCAGGGTCTG	0.408																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(529-531)gaG>gaA		chromosome 4 open reading frame 21							55.0	58.0	57.0					4																	113540667		2203	4300	6503	SO:0001819	synonymous_variant	55345							g.chr4:113540667C>T																												ENST00000505019.1:c.531G>A	4.37:g.113540667C>T						C4orf21_ENST00000445203.2_Silent_p.E146E|C4orf21_ENST00000309071.5_Silent_p.E177E	p.E177E	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	656	-		Ovarian(17;0.156)	177					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.531G>A																																																																																					0.408	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			18	33	0	0	0	1	0	18	33				
NRIP1	8204	broad.mit.edu	37	21	16339938	16339938	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:16339938A>G	ENST00000400202.1	-	3	1288	c.576T>C	c.(574-576)agT>agC	p.S192S	NRIP1_ENST00000318948.4_Silent_p.S192S|NRIP1_ENST00000400199.1_Silent_p.S192S			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	192	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CTTTAACTTTACTTTTCTTCA	0.378																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(574-576)agT>agC		nuclear receptor interacting protein 1							77.0	74.0	75.0					21																	16339938		2203	4300	6503	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339938A>G	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.576T>C	21.37:g.16339938A>G						NRIP1_ENST00000318948.4_Silent_p.S192S|NRIP1_ENST00000400199.1_Silent_p.S192S	p.S192S			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1288	-			192			Repression domain 1.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.576T>C	CCDS13568.1																																																																																				0.378	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		22	38	0	0	0	1	0	22	38				
ZCCHC11	23318	broad.mit.edu	37	1	52991830	52991830	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52991830G>A	ENST00000371544.3	-	2	385	c.123C>T	c.(121-123)tcC>tcT	p.S41S	ZCCHC11_ENST00000355809.4_Silent_p.S41S|ZCCHC11_ENST00000371541.1_5'Flank|ZCCHC11_ENST00000257177.4_Silent_p.S41S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	41					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						TTTCTTTTACGGATTTATCAT	0.274																																						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.(121-123)tcC>tcT		zinc finger, CCHC domain containing 11							56.0	57.0	56.0					1																	52991830		2203	4297	6500	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.chr1:52991830G>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.123C>T	1.37:g.52991830G>A						ZCCHC11_ENST00000257177.4_Silent_p.S41S|ZCCHC11_ENST00000355809.4_Silent_p.S41S	p.S41S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			2	385	-			41					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.123C>T	CCDS30716.1																																																																																				0.274	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		9	27	0	0	0	1	0	9	27				
GPR112	139378	broad.mit.edu	37	X	135426790	135426790	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135426790G>T	ENST00000394143.1	+	6	1216	c.925G>T	c.(925-927)Gag>Tag	p.E309*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.E309*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E104*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E104*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.E246*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	309					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTGGTAGATGAGACAGCTAC	0.368																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(925-927)Gag>Tag		G protein-coupled receptor 112							137.0	117.0	123.0					X																	135426790		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426790G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.925G>T	X.37:g.135426790G>T	ENSP00000377699:p.Glu309*					GPR112_ENST00000287534.4_Nonsense_Mutation_p.E246*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E309*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E104*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E104*	p.E309*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	1216	+	Acute lymphoblastic leukemia(192;0.000127)		309					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.925G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.613460	0.87359	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	4.18	1.32	0.21799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.26	0.06845	0.2582:0.2216:0.5201:0.0	.	.	.	.	X	309;309;104;246;104	.	ENSP00000287534:E246X	E	+	1	0	GPR112	135254456	0.000000	0.05858	0.007000	0.13788	0.054000	0.15201	-0.217000	0.09253	0.324000	0.23333	0.502000	0.49764	GAG		0.368	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			17	66	1	0	1.99824e-07	1	2.29918e-07	17	66				
EPHA1	2041	broad.mit.edu	37	7	143098425	143098425	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143098425A>G	ENST00000275815.3	-	3	510	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	142	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACCTTCTGGAACAAGGGCCGT	0.592																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(424-426)Ttc>Ctc		EPH receptor A1							86.0	88.0	87.0					7																	143098425		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143098425A>G	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.424T>C	7.37:g.143098425A>G	ENSP00000275815:p.Phe142Leu						p.F142L	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			3	510	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	142					A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.424T>C	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.892121	0.91889	.	.	ENSG00000146904	ENST00000275815	T	0.12984	2.63	4.63	4.63	0.57726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000021	T	0.37517	0.1006	M	0.79475	2.455	0.50813	D	0.99989	D	0.89917	1.0	D	0.83275	0.996	T	0.24799	-1.0150	10	0.72032	D	0.01	.	12.7699	0.57415	1.0:0.0:0.0:0.0	.	142	P21709	EPHA1_HUMAN	L	142	ENSP00000275815:F142L	ENSP00000275815:F142L	F	-	1	0	EPHA1	142808547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.477000	0.73591	1.946000	0.56461	0.533000	0.62120	TTC		0.592	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			42	78	0	0	0	1	0	42	78				
C3orf30	152405	broad.mit.edu	37	3	118865185	118865185	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118865185G>A	ENST00000295622.1	+	1	189	c.149G>A	c.(148-150)aGa>aAa	p.R50K	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	50										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACTGCTCACAGAATAGCTGAC	0.532																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(148-150)aGa>aAa		chromosome 3 open reading frame 30							95.0	65.0	75.0					3																	118865185		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865185G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.149G>A	3.37:g.118865185G>A	ENSP00000295622:p.Arg50Lys						p.R50K	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	189	+			50					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.149G>A	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603279	0.66445	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.21543	2.0	4.02	0.801	0.18679	.	0.983444	0.08256	N	0.973840	T	0.13114	0.0318	L	0.34521	1.04	0.09310	N	1	B;B	0.33044	0.395;0.395	B;B	0.32289	0.143;0.143	T	0.33727	-0.9857	10	0.13853	T	0.58	0.3483	4.9986	0.14253	0.2448:0.1726:0.5826:0.0	.	50;50	E9PFE5;Q96M34	.;CC030_HUMAN	K	50	ENSP00000295622:R50K	ENSP00000295622:R50K	R	+	2	0	C3orf30	120347875	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	0.120000	0.15647	0.147000	0.19030	0.655000	0.94253	AGA		0.532	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		20	48	0	0	0	1	0	20	48				
RBBP6	5930	broad.mit.edu	37	16	24567184	24567184	+	Silent	SNP	G	G	A	rs140732312	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24567184G>A	ENST00000319715.4	+	6	912	c.480G>A	c.(478-480)acG>acA	p.T160T	RBBP6_ENST00000348022.2_Silent_p.T160T|RBBP6_ENST00000381039.3_Silent_p.T160T	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	160					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CATCTTACACGTGTTTCCGTT	0.358													G|||	3	0.000599042	0.0015	0.0	5008	,	,		19541	0.0		0.001	False		,,,				2504	0.0					ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(478-480)acG>acA		retinoblastoma binding protein 6		G	,	1,4393	2.1+/-5.4	0,1,2196	83.0	80.0	81.0		480,480	-4.7	0.9	16	dbSNP_134	81	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous,coding-synonymous	RBBP6	NM_006910.4,NM_018703.3	,	0,11,6486	AA,AG,GG		0.1163,0.0228,0.0847	,	160/1793,160/1759	24567184	11,12983	2197	4300	6497	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24567184G>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.480G>A	16.37:g.24567184G>A						RBBP6_ENST00000348022.2_Silent_p.T160T|RBBP6_ENST00000381039.3_Silent_p.T160T	p.T160T	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	6	912	+			160					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.480G>A	CCDS10621.1																																																																																				0.358	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		14	31	0	0	0	1	0	14	31				
RAB11FIP2	22841	broad.mit.edu	37	10	119798541	119798541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:119798541C>A	ENST00000355624.3	-	3	1646	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.E403*|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	403					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGGTTGACTCATAATCAAAA	0.368																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1207-1209)Gag>Tag		RAB11 family interacting protein 2 (class I)							146.0	149.0	148.0					10																	119798541		2203	4300	6503	SO:0001587	stop_gained	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798541C>A	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1207G>T	10.37:g.119798541C>A	ENSP00000347839:p.Glu403*					RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.E403*|RP11-354M20.3_ENST00000451610.2_RNA	p.E403*	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	3	1646	-		Colorectal(252;0.235)	403					A6NEI4|Q3I768|Q9Y2F0	Nonsense_Mutation	SNP	ENST00000355624.3	37	c.1207G>T	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522105	0.85600	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	.	.	.	5.86	5.86	0.93980	.	0.243880	0.47852	D	0.000219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-14.3429	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	X	403	.	ENSP00000347839:E403X	E	-	1	0	RAB11FIP2	119788531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.317000	0.65822	2.937000	0.99478	0.650000	0.86243	GAG		0.368	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		22	42	1	0	3.8784e-16	1	5.13982e-16	22	42				
DMRT2	10655	broad.mit.edu	37	9	1056315	1056315	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:1056315A>C	ENST00000358146.2	+	3	728	c.728A>C	c.(727-729)aAa>aCa	p.K243T	DMRT2_ENST00000382251.3_Missense_Mutation_p.K243T|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.K243T			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	243					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTTGCTGATAAAGAGTTGGAG	0.493																																						ENST00000382251.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(727-729)aAa>aCa		doublesex and mab-3 related transcription factor 2							108.0	113.0	111.0					9																	1056315		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056315A>C	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.728A>C	9.37:g.1056315A>C	ENSP00000350865:p.Lys243Thr					DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.K243T|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.K243T	p.K243T			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1057	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	243					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.728A>C	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.722716	0.68959	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.34275	1.37;1.37;1.37	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.58668	-0.7596	10	0.45353	T	0.12	-20.555	15.4035	0.74861	1.0:0.0:0.0:0.0	.	243;87	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	T	243	ENSP00000371686:K243T;ENSP00000305785:K243T;ENSP00000350865:K243T	ENSP00000305785:K243T	K	+	2	0	DMRT2	1046315	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.129000	0.65627	0.477000	0.44152	AAA		0.493	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		38	73	0	0	0	1	0	38	73				
KMT2C	58508	broad.mit.edu	37	7	151970902	151970902	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151970902C>A	ENST00000262189.6	-	7	1118	c.900G>T	c.(898-900)gaG>gaT	p.E300D	KMT2C_ENST00000355193.2_Missense_Mutation_p.E300D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	300					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGGTACATTTCTCTTCACAGC	0.428																																						ENST00000355193.2																			0											c.(898-900)gaG>gaT		lysine (K)-specific methyltransferase 2C							126.0	121.0	123.0					7																	151970902		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151970902C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.900G>T	7.37:g.151970902C>A	ENSP00000262189:p.Glu300Asp					KMT2C_ENST00000262189.6_Missense_Mutation_p.E300D	p.E300D							7	1118	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.900G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920140	0.52653	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.71341	-0.56;-0.56	4.87	2.96	0.34315	Zinc finger, PHD-type (1);	0.000000	0.44902	D	0.000401	T	0.75102	0.3804	L	0.39147	1.195	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.73842	-0.3855	10	0.44086	T	0.13	.	10.8711	0.46883	0.0:0.7925:0.1324:0.0752	.	300	Q8NEZ4	MLL3_HUMAN	D	300	ENSP00000262189:E300D;ENSP00000347325:E300D	ENSP00000262189:E300D	E	-	3	2	MLL3	151601835	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	2.030000	0.41108	1.139000	0.42245	0.650000	0.86243	GAG		0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			14	93	1	0	3.27435e-08	1	3.83577e-08	14	93				
UBN1	29855	broad.mit.edu	37	16	4908061	4908061	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4908061A>C	ENST00000396658.4	+	2	1023	c.320A>C	c.(319-321)aAa>aCa	p.K107T	UBN1_ENST00000262376.6_Missense_Mutation_p.K107T|UBN1_ENST00000545171.1_Missense_Mutation_p.K107T|UBN1_ENST00000590769.1_Missense_Mutation_p.K107T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	107	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CTTGCCCGAAAATTTGAAGAA	0.378																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(319-321)aAa>aCa		ubinuclein 1							54.0	57.0	56.0					16																	4908061		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4908061A>C	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.320A>C	16.37:g.4908061A>C	ENSP00000379894:p.Lys107Thr					UBN1_ENST00000590769.1_Missense_Mutation_p.K107T|UBN1_ENST00000262376.6_Missense_Mutation_p.K107T|UBN1_ENST00000545171.1_Missense_Mutation_p.K107T	p.K107T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			2	1023	+			107			Sufficient for interaction with HIRA.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.320A>C	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084331	0.76642	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.52983	1.23;0.64;1.23	5.24	5.24	0.73138	.	0.048454	0.85682	D	0.000000	T	0.63450	0.2512	M	0.67397	2.05	0.50813	D	0.999893	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.96	T	0.66897	-0.5807	10	0.87932	D	0	-11.7424	9.3674	0.38232	0.9193:0.0:0.0807:0.0	.	107;107	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	T	107	ENSP00000262376:K107T;ENSP00000442379:K107T;ENSP00000379894:K107T	ENSP00000262376:K107T	K	+	2	0	UBN1	4848062	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.915000	0.69973	1.984000	0.57885	0.460000	0.39030	AAA		0.378	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		22	53	0	0	0	1	0	22	53				
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Intron	SNP	T	T	C	rs62556589		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:78790136T>C	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.M664T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1990-1992)aTg>aCg		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790136T>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+91T>C	9.37:g.78790136T>C						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.M664T			Q92824	PCSK5_HUMAN			14	2503	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1991T>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.632416	0.00806	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.72282	-0.64	.	.	.	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.30001	-0.9993	6	0.24483	T	0.36	.	.	.	.	rs62556589	664	B1AMG5	.	T	664	ENSP00000365958:M664T	ENSP00000365958:M664T	M	+	2	0	PCSK5	77979956	0.008000	0.16893	0.036000	0.18154	0.039000	0.13416	-0.019000	0.12546	0.228000	0.21019	0.225000	0.17782	ATG		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	24	0	0	0	1	0	5	24				
AKR1C1	1645	broad.mit.edu	37	10	5006036	5006036	+	Intron	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5006036T>C	ENST00000380872.4	+	1	276				AKR1C1_ENST00000477661.1_Intron|AKR1C1_ENST00000380859.1_Missense_Mutation_p.I14T|AKR1C1_ENST00000434459.2_Intron|U8_ENST00000459095.1_RNA	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GTCGAACAGATATTTACTTCT	0.413																																					Colon(130;2054 2316 13360 15380)	ENST00000380859.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						c.(40-42)aTa>aCa		aldo-keto reductase family 1, member C1							26.0	35.0	32.0					10																	5006036		870	1970	2840	SO:0001627	intron_variant	1645							g.chr10:5006036T>C	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.84+316T>C	10.37:g.5006036T>C						AKR1C1_ENST00000434459.2_Intron|AKR1C1_ENST00000380872.4_Intron|AKR1C1_ENST00000477661.1_Intron	p.I14T							1	56	+								P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	c.41T>C	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	T	1.576	-0.532746	0.04112	.	.	ENSG00000187134	ENST00000380859	T	0.20200	2.09	1.51	0.332	0.15938	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31530	-0.9940	6	0.29301	T	0.29	.	3.0949	0.06305	0.0:0.2665:0.0:0.7335	.	.	.	.	T	14	ENSP00000370240:I14T	ENSP00000370240:I14T	I	+	2	0	AKR1C1	4996036	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.197000	0.09518	0.067000	0.16545	0.254000	0.18369	ATA		0.413	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		9	50	0	0	0	1	0	9	50				
AP4E1	23431	broad.mit.edu	37	15	51201024	51201024	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:51201024C>A	ENST00000261842.5	+	1	155	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	AP4E1_ENST00000560508.1_5'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	17					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GGGACTCTTTCTGCAGAACCA	0.721																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(49-51)Ctg>Atg		adaptor-related protein complex 4, epsilon 1 subunit							11.0	13.0	13.0					15																	51201024		2177	4269	6446	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51201024C>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.49C>A	15.37:g.51201024C>A	ENSP00000261842:p.Leu17Met					AP4E1_ENST00000560508.1_5'UTR	p.L17M	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	1	155	+			17					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.49C>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223740	0.58668	.	.	ENSG00000081014	ENST00000261842	T	0.19532	2.14	4.86	-0.0485	0.13838	.	0.161552	0.40640	N	0.001041	T	0.18383	0.0441	N	0.24115	0.695	0.52099	D	0.999947	P;D	0.61080	0.679;0.989	B;P	0.53450	0.259;0.726	T	0.02877	-1.1099	10	0.56958	D	0.05	-6.4303	6.6759	0.23093	0.0:0.5695:0.1158:0.3147	.	17;17	B4DM48;Q9UPM8	.;AP4E1_HUMAN	M	17	ENSP00000261842:L17M	ENSP00000261842:L17M	L	+	1	2	AP4E1	48988316	0.848000	0.29623	0.347000	0.25668	0.912000	0.54170	0.601000	0.24119	-0.086000	0.12550	0.557000	0.71058	CTG		0.721	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			9	10	1	0	0.000442599	1	0.00046913	9	10				
KIAA1841	84542	broad.mit.edu	37	2	61331021	61331021	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61331021C>T	ENST00000402291.1	+	13	1640	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C	KIAA1841_ENST00000295031.5_Missense_Mutation_p.R467C|KIAA1841_ENST00000356719.2_Missense_Mutation_p.R467C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R467C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	467										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGTTACACTTCGTGATCAAGG	0.418																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1399-1401)Cgt>Tgt		KIAA1841							183.0	141.0	155.0					2																	61331021		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61331021C>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1399C>T	2.37:g.61331021C>T	ENSP00000385579:p.Arg467Cys					KIAA1841_ENST00000356719.2_Missense_Mutation_p.R467C|KIAA1841_ENST00000295031.5_Missense_Mutation_p.R467C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R467C	p.R467C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		13	1640	+			467					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1399C>T	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	7.997	0.754630	0.15778	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.57	2.46	0.29980	.	0.839728	0.10898	N	0.621882	T	0.16171	0.0389	N	0.02011	-0.69	0.21675	N	0.999596	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.22521	-1.0214	9	0.54805	T	0.06	0.082	10.3675	0.44033	0.0:0.7691:0.0:0.2309	.	467;467	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	C	467	.	ENSP00000295031:R467C	R	+	1	0	KIAA1841	61184525	0.012000	0.17670	0.260000	0.24451	0.163000	0.22366	0.564000	0.23563	0.603000	0.29913	-0.266000	0.10368	CGT		0.418	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		14	20	0	0	0	1	0	14	20				
NCKAP5	344148	broad.mit.edu	37	2	133547778	133547778	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:133547778C>T	ENST00000409261.1	-	13	1283	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	NCKAP5_ENST00000409213.1_Splice_Site_p.E304K|NCKAP5_ENST00000405974.3_Splice_Site_p.E304K|NCKAP5_ENST00000317721.6_Splice_Site_p.E304K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	304										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGTTGGTGTTCCTGAAAAAGC	0.483																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.e13-1		NCK-associated protein 5							56.0	60.0	59.0					2																	133547778		1934	4139	6073	SO:0001630	splice_region_variant	344148						protein binding	g.chr2:133547778C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.910-1G>A	2.37:g.133547778C>T						NCKAP5_ENST00000317721.6_Splice_Site_p.E304_splice|NCKAP5_ENST00000409213.1_Splice_Site_p.E304_splice|NCKAP5_ENST00000405974.3_Splice_Site_p.E304_splice	p.E304_splice	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			13	1283	-			304					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Splice_Site	SNP	ENST00000409261.1	37	c.909_splice	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.577468	0.86645	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.51325	2.72;0.71;2.72;0.71	5.21	5.21	0.72293	.	0.000000	0.32935	U	0.005474	T	0.58466	0.2124	L	0.29908	0.895	0.42787	D	0.993885	D;B	0.89917	1.0;0.275	D;B	0.85130	0.997;0.067	T	0.60367	-0.7277	10	0.56958	D	0.05	.	17.1294	0.86723	0.0:1.0:0.0:0.0	.	304;304	O14513-2;O14513	.;NCKP5_HUMAN	K	304	ENSP00000387128:E304K;ENSP00000386952:E304K;ENSP00000380603:E304K;ENSP00000385692:E304K	ENSP00000380603:E304K	E	-	1	0	NCKAP5	133264248	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.766000	0.62279	2.712000	0.92718	0.645000	0.84053	GAA		0.483	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	Missense_Mutation	4	16	0	0	0	1	0	4	16				
PKM	5315	broad.mit.edu	37	15	72499185	72499185	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72499185G>A	ENST00000335181.5	-	8	1127	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	PKM_ENST00000389093.3_Missense_Mutation_p.R342W|PKM_ENST00000449901.2_Missense_Mutation_p.R327W|PKM_ENST00000568883.1_Missense_Mutation_p.R177W|PKM_ENST00000565154.1_Missense_Mutation_p.R342W|PKM_ENST00000319622.6_Missense_Mutation_p.R342W|PKM_ENST00000568459.1_Missense_Mutation_p.R342W|PKM_ENST00000565184.1_Missense_Mutation_p.R342W	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	342	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CCTTCAGCCCGAGTGGGGCGG	0.547																																						ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(1024-1026)Cgg>Tgg		pyruvate kinase, muscle							40.0	38.0	39.0					15																	72499185		2199	4297	6496	SO:0001583	missense	5315							g.chr15:72499185G>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1024C>T	15.37:g.72499185G>A	ENSP00000334983:p.Arg342Trp					PKM_ENST00000335181.5_Missense_Mutation_p.R342W|PKM_ENST00000565154.1_Missense_Mutation_p.R342W|PKM_ENST00000389093.3_Missense_Mutation_p.R342W|PKM_ENST00000565184.1_Missense_Mutation_p.R342W|PKM_ENST00000568883.1_Missense_Mutation_p.R177W|PKM_ENST00000449901.2_Missense_Mutation_p.R327W|PKM_ENST00000568459.1_Missense_Mutation_p.R342W	p.R342W	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					8	1480	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.1024C>T	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740156	0.69304	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77	5.23	4.31	0.51392	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.99454	4.575	0.80722	D	1	D;P;B;D;P;B;P;P;P	0.69078	0.963;0.869;0.424;0.997;0.78;0.371;0.946;0.925;0.946	P;B;B;P;B;B;P;B;P	0.60068	0.448;0.37;0.211;0.868;0.412;0.095;0.649;0.37;0.649	D	0.96386	0.9285	10	0.87932	D	0	-11.4155	15.5438	0.76077	0.0:0.0:0.8608:0.1392	.	268;327;322;322;342;342;177;269;177	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;.;KPYM_HUMAN;.;.;.;.	W	342;342;269;177;342;327	ENSP00000320171:R342W;ENSP00000334983:R342W;ENSP00000373745:R342W;ENSP00000403365:R327W	ENSP00000320171:R342W	R	-	1	2	PKM2	70286239	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.704000	0.74639	1.315000	0.45114	0.561000	0.74099	CGG		0.547	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			17	28	0	0	0	1	0	17	28				
CLSTN3	9746	broad.mit.edu	37	12	7302202	7302202	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7302202G>A	ENST00000266546.6	+	14	2608	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K	CLSTN3_ENST00000537408.1_Missense_Mutation_p.E732K	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	720					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCTGGATCCCGAGCGGGAAAG	0.572																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2194-2196)Gag>Aag		calsyntenin 3							81.0	74.0	77.0					12																	7302202		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7302202G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2158G>A	12.37:g.7302202G>A	ENSP00000266546:p.Glu720Lys					CLSTN3_ENST00000266546.6_Missense_Mutation_p.E720K	p.E732K			Q9BQT9	CSTN3_HUMAN			13	2732	+			720					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2194G>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601766	0.87055	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.48522	0.81;0.81	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	L	0.51422	1.61	0.80722	D	1	D;P	0.76494	0.999;0.644	D;B	0.71184	0.972;0.18	T	0.62868	-0.6763	10	0.52906	T	0.07	-31.9677	17.9509	0.89052	0.0:0.0:1.0:0.0	.	732;720	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	K	720;732	ENSP00000266546:E720K;ENSP00000440679:E732K	ENSP00000266546:E720K	E	+	1	0	CLSTN3	7193469	1.000000	0.71417	0.957000	0.39632	0.886000	0.51366	7.524000	0.81866	2.676000	0.91093	0.561000	0.74099	GAG		0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		15	41	0	0	0	1	0	15	41				
FGD6	55785	broad.mit.edu	37	12	95483391	95483391	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95483391A>G	ENST00000343958.4	-	18	4155	c.3932T>C	c.(3931-3933)aTt>aCt	p.I1311T	FGD6_ENST00000546711.1_Missense_Mutation_p.I1311T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1311					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCCTGATGGAATGCTATGTAA	0.403																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3931-3933)aTt>aCt		FYVE, RhoGEF and PH domain containing 6							216.0	199.0	205.0					12																	95483391		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95483391A>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3932T>C	12.37:g.95483391A>G	ENSP00000344446:p.Ile1311Thr					FGD6_ENST00000546711.1_Missense_Mutation_p.I1311T	p.I1311T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			18	4155	-			1311					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.3932T>C	CCDS31878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.87|17.87	3.494578|3.494578	0.64186|0.64186	.|.	.|.	ENSG00000180263|ENSG00000180263	ENST00000548069|ENST00000343958;ENST00000546711	.|T;T	.|0.70045	.|2.69;-0.45	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.49916	.|D	.|0.000136	T|T	0.78278|0.78278	0.4258|0.4258	L|L	0.61218|0.61218	1.895|1.895	0.44946|0.44946	D|D	0.997968|0.997968	.|D;D	.|0.71674	.|0.995;0.998	.|D;P	.|0.63488	.|0.915;0.897	T|T	0.79019|0.79019	-0.1974|-0.1974	5|10	.|0.49607	.|T	.|0.09	-17.8893|-17.8893	15.9002|15.9002	0.79369|0.79369	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1311;1311	.|Q6ZV73-2;Q6ZV73	.|.;FGD6_HUMAN	L|T	55|1311	.|ENSP00000344446:I1311T;ENSP00000450342:I1311T	.|ENSP00000344446:I1311T	F|I	-|-	1|2	0|0	FGD6|FGD6	94007522|94007522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.454000|5.454000	0.66651|0.66651	2.164000|2.164000	0.68074|0.68074	0.459000|0.459000	0.35465|0.35465	TTC|ATT		0.403	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		28	50	0	0	0	1	0	28	50				
UTS2	10911	broad.mit.edu	37	1	7910941	7910941	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:7910941T>G	ENST00000361696.5	-	2	176	c.145A>C	c.(145-147)Aga>Cga	p.R49R	UTS2_ENST00000054668.5_Silent_p.R64R|UTS2_ENST00000377516.2_Silent_p.R49R	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	49					muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AGGGAAGCTCTTTCTAGCTCC	0.438																																						ENST00000377516.2																			0				kidney(1)|lung(4)|urinary_tract(1)	6						c.(145-147)Aga>Cga		urotensin 2							127.0	124.0	125.0					1																	7910941		2203	4300	6503	SO:0001819	synonymous_variant	10911				muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity	g.chr1:7910941T>G	AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"""Endogenous ligands"""	12636	protein-coding gene	gene with protein product	"""prepro U-II"""	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218	ENST00000361696.5:c.145A>C	1.37:g.7910941T>G						UTS2_ENST00000361696.5_Silent_p.R49R|UTS2_ENST00000054668.5_Silent_p.R64R	p.R49R			O95399	UTS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)	3	465	-	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	49					Q5H8X7|Q6UXF6|Q9UKP7	Silent	SNP	ENST00000361696.5	37	c.145A>C	CCDS91.1																																																																																				0.438	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003612.1	NM_006786		26	53	0	0	0	1	0	26	53				
OR10AG1	282770	broad.mit.edu	37	11	55735728	55735728	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55735728C>A	ENST00000312345.2	-	1	262	c.212G>T	c.(211-213)aGa>aTa	p.R71I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CATGAGCATTCTTGGGATAAT	0.368																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(211-213)aGa>aTa		olfactory receptor, family 10, subfamily AG, member 1							71.0	78.0	75.0					11																	55735728		2201	4295	6496	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735728C>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.212G>T	11.37:g.55735728C>A	ENSP00000311477:p.Arg71Ile						p.R71I	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	262	-	Esophageal squamous(21;0.0137)		71					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.212G>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539723	0.45176	.	.	ENSG00000174970	ENST00000312345	T	0.00414	7.52	5.47	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.106999	0.41605	D	0.000850	T	0.00875	0.0029	M	0.81112	2.525	0.22521	N	0.99903	D	0.65815	0.995	D	0.63381	0.914	T	0.41378	-0.9512	10	0.87932	D	0	.	6.4477	0.21885	0.1818:0.7281:0.0:0.0902	.	71	Q8NH19	O10AG_HUMAN	I	71	ENSP00000311477:R71I	ENSP00000311477:R71I	R	-	2	0	OR10AG1	55492304	0.000000	0.05858	0.601000	0.28877	0.377000	0.30045	-0.067000	0.11579	2.625000	0.88918	0.477000	0.44152	AGA		0.368	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		27	57	1	0	1.66031e-10	1	2.0393e-10	27	57				
CCDC151	115948	broad.mit.edu	37	19	11545832	11545832	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11545832T>C	ENST00000356392.4	-	1	93	c.6A>G	c.(4-6)acA>acG	p.T2T	CCDC151_ENST00000545100.1_Intron|PRKCSH_ENST00000591462.1_5'Flank|PRKCSH_ENST00000252455.2_5'Flank|PRKCSH_ENST00000412601.1_5'Flank|CCDC151_ENST00000591179.1_Silent_p.T2T|PRKCSH_ENST00000592741.1_5'Flank|PRKCSH_ENST00000589838.1_5'Flank|PRKCSH_ENST00000587327.1_5'Flank|CCDC151_ENST00000586836.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	2										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						ACAGAGGAGATGTCATGATGG	0.642											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(4-6)acA>acG		coiled-coil domain containing 151							34.0	38.0	36.0					19																	11545832		2009	4161	6170	SO:0001819	synonymous_variant	115948							g.chr19:11545832T>C		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.6A>G	19.37:g.11545832T>C			OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	CCDC151_ENST00000591179.1_Silent_p.T2T|CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000586836.1_Intron	p.T2T	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			1	93	-			2					B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.6A>G	CCDS42501.1																																																																																				0.642	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		5	73	0	0	0	1	0	5	73				
OR14J1	442191	broad.mit.edu	37	6	29275214	29275214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29275214C>A	ENST00000377160.2	+	1	812	c.748C>A	c.(748-750)Ctt>Att	p.L250I		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CACCTTCTTTCTTTCAGCTGC	0.488																																						ENST00000377160.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(748-750)Ctt>Att		olfactory receptor, family 14, subfamily J, member 1							172.0	169.0	170.0					6																	29275214		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275214C>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.748C>A	6.37:g.29275214C>A	ENSP00000366365:p.Leu250Ile						p.L250I	NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN			1	812	+			250					A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.748C>A	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	5.502	0.277683	0.10403	.	.	ENSG00000204695	ENST00000377160	T	0.37411	1.2	4.58	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.214573	0.23439	N	0.048169	T	0.10165	0.0249	L	0.42245	1.32	0.09310	N	1	B	0.29378	0.243	B	0.31812	0.136	T	0.23261	-1.0193	10	0.21540	T	0.41	.	4.2887	0.10867	0.1619:0.5379:0.0:0.3002	.	250	Q9UGF5	O14J1_HUMAN	I	250	ENSP00000366365:L250I	ENSP00000366365:L250I	L	+	1	0	OR14J1	29383193	0.000000	0.05858	0.222000	0.23844	0.202000	0.24057	0.844000	0.27654	0.626000	0.30322	-0.143000	0.13931	CTT		0.488	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			58	107	1	0	8.72158e-25	1	1.22634e-24	58	107				
STARD3	10948	broad.mit.edu	37	17	37814703	37814703	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:37814703T>G	ENST00000336308.5	+	6	693	c.475T>G	c.(475-477)Ttt>Gtt	p.F159V	STARD3_ENST00000580611.1_Missense_Mutation_p.F133V|STARD3_ENST00000394250.4_Missense_Mutation_p.F141V|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Silent_p.L154L	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	159	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATCGTCTCTTTTGTCCTCGC	0.602																																						ENST00000336308.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(475-477)Ttt>Gtt		StAR-related lipid transfer (START) domain containing 3							116.0	85.0	96.0					17																	37814703		2203	4300	6503	SO:0001583	missense	0				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37814703T>G		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.475T>G	17.37:g.37814703T>G	ENSP00000337446:p.Phe159Val					STARD3_ENST00000580611.1_Missense_Mutation_p.F133V|STARD3_ENST00000544210.2_Silent_p.L154L|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Missense_Mutation_p.F141V	p.F159V	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		6	693	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		159			MENTAL.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.475T>G	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	T	34	5.338414	0.95783	.	.	ENSG00000131748	ENST00000336308;ENST00000394250;ENST00000443521	T;T;T	0.55760	0.5;0.5;0.5	5.26	5.26	0.73747	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	.	.	.	0.80722	D	1	P;P	0.50710	0.938;0.938	P;P	0.62089	0.835;0.898	T	0.75872	-0.3164	9	0.87932	D	0	.	15.1724	0.72884	0.0:0.0:0.0:1.0	.	141;159	A8MXA4;Q14849	.;STAR3_HUMAN	V	159;141;159	ENSP00000337446:F159V;ENSP00000377794:F141V;ENSP00000411710:F159V	ENSP00000337446:F159V	F	+	1	0	STARD3	35068229	1.000000	0.71417	0.997000	0.53966	0.844000	0.47949	7.698000	0.84413	1.989000	0.58080	0.533000	0.62120	TTT		0.602	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			21	34	0	0	0	1	0	21	34				
KLHL10	317719	broad.mit.edu	37	17	40001831	40001831	+	Missense_Mutation	SNP	A	A	G	rs375231468		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40001831A>G	ENST00000293303.4	+	3	1291	c.1138A>G	c.(1138-1140)Agt>Ggt	p.S380G	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	380					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TTGCTATGTCAGTGTGACAGT	0.453																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1138-1140)Agt>Ggt		kelch-like family member 10		A	GLY/SER	1,4009		0,1,2004	104.0	101.0	102.0		1138	6.1	1.0	17		102	0,8352		0,0,4176	no	missense	KLHL10	NM_152467.3	56	0,1,6180	GG,GA,AA		0.0,0.0249,0.0081	probably-damaging	380/609	40001831	1,12361	2005	4176	6181	SO:0001583	missense	317719					cytoplasm		g.chr17:40001831A>G	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1138A>G	17.37:g.40001831A>G	ENSP00000293303:p.Ser380Gly						p.S380G	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	1291	+		Breast(137;0.000162)	380					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1138A>G	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528492	0.85706	2.49E-4	0.0	ENSG00000161594	ENST00000293303	T	0.74002	-0.8	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.145964	0.85682	D	0.000000	T	0.68320	0.2988	N	0.12422	0.21	0.58432	D	0.999996	P;D	0.55605	0.64;0.972	B;P	0.53224	0.272;0.721	T	0.68637	-0.5356	9	.	.	.	.	15.4647	0.75390	1.0:0.0:0.0:0.0	.	374;380	B4DXV2;Q6JEL2	.;KLH10_HUMAN	G	380	ENSP00000293303:S380G	.	S	+	1	0	KLHL10	37255357	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.867000	0.75511	2.326000	0.78906	0.533000	0.62120	AGT		0.453	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		6	81	0	0	0	1	0	6	81				
SEPT4	5414	broad.mit.edu	37	17	56598957	56598957	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56598957G>T	ENST00000317268.3	-	8	1142	c.966C>A	c.(964-966)gaC>gaA	p.D322E	SEPT4_ENST00000457347.2_Missense_Mutation_p.D337E|SEPT4_ENST00000579371.1_Missense_Mutation_p.D223E|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000317256.6_Missense_Mutation_p.D303E|SEPT4_ENST00000412945.3_Missense_Mutation_p.D314E|SEPT4_ENST00000580844.1_Missense_Mutation_p.D223E|SEPT4_ENST00000393086.1_Missense_Mutation_p.D303E|SEPT4_ENST00000580809.1_3'UTR|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000583114.1_Missense_Mutation_p.D175E	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	322	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGAGTCACAGTCTGGGAATT	0.493																																						ENST00000457347.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1009-1011)gaC>gaA		septin 4							134.0	130.0	131.0					17																	56598957		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56598957G>T	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.966C>A	17.37:g.56598957G>T	ENSP00000321674:p.Asp322Glu					SEPT4_ENST00000583114.1_Missense_Mutation_p.D175E|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000579371.1_Missense_Mutation_p.D223E|SEPT4_ENST00000580844.1_Missense_Mutation_p.D223E|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Missense_Mutation_p.D314E|SEPT4_ENST00000393086.1_Missense_Mutation_p.D303E|SEPT4_ENST00000317256.6_Missense_Mutation_p.D303E|SEPT4_ENST00000317268.3_Missense_Mutation_p.D322E	p.D337E	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN			9	1155	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		322					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.1011C>A	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	8.326	0.825437	0.16749	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.23	1.53	0.23141	.	0.109621	0.64402	D	0.000010	T	0.19846	0.0477	N	0.05487	-0.04	0.37978	D	0.933496	B;B;B;B;B	0.17667	0.002;0.023;0.002;0.0;0.003	B;B;B;B;B	0.18871	0.013;0.022;0.005;0.007;0.023	T	0.09164	-1.0687	10	0.10111	T	0.7	.	4.6132	0.12413	0.2682:0.0:0.5757:0.1561	.	314;337;303;175;322	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	E	314;336;303;322;303	ENSP00000414779:D314E;ENSP00000321071:D303E;ENSP00000321674:D322E;ENSP00000376801:D303E	ENSP00000321071:D303E	D	-	3	2	SEPT4	53953956	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.135000	0.31454	0.043000	0.15746	0.455000	0.32223	GAC		0.493	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		21	48	1	0	5.26018e-13	1	6.70247e-13	21	48				
FAM135B	51059	broad.mit.edu	37	8	139153578	139153578	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139153578G>T	ENST00000395297.1	-	17	3823	c.3653C>A	c.(3652-3654)tCt>tAt	p.S1218Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1218										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTTGCCAAGAGAATGGCCAAT	0.552										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3652-3654)tCt>tAt		family with sequence similarity 135, member B							164.0	170.0	168.0					8																	139153578		2100	4223	6323	SO:0001583	missense	51059							g.chr8:139153578G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3653C>A	8.37:g.139153578G>T	ENSP00000378710:p.Ser1218Tyr	HNSCC(54;0.14)					p.S1218Y	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		17	3823	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1218					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3653C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025382	0.93518	.	.	ENSG00000147724	ENST00000395297	T	0.78595	-1.19	5.83	5.83	0.93111	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94154	0.7408	10	0.87932	D	0	-17.1119	19.1034	0.93283	0.0:0.0:1.0:0.0	.	1218	Q49AJ0	F135B_HUMAN	Y	1218	ENSP00000378710:S1218Y	ENSP00000378710:S1218Y	S	-	2	0	FAM135B	139222760	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	TCT		0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		36	63	1	0	6.84511e-11	1	8.46308e-11	36	63				
ZNF841	284371	broad.mit.edu	37	19	52569565	52569565	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52569565A>C	ENST00000426391.2	-	5	1773	c.1222T>G	c.(1222-1224)Tgg>Ggg	p.W408G	CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.W524G|ZNF841_ENST00000594295.1_Missense_Mutation_p.W524G|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AATGAGCCCCAATTAAAGGCT	0.403																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1570-1572)Tgg>Ggg		zinc finger protein 841							95.0	86.0	89.0					19																	52569565		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569565A>C	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1222T>G	19.37:g.52569565A>C	ENSP00000415453:p.Trp408Gly					ZNF841_ENST00000426391.2_Missense_Mutation_p.W408G|ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.W524G	p.W524G	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	2029	-			408					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.1570T>G		.	.	.	.	.	.	.	.	.	.	A	8.148	0.786708	0.16189	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.36157	1.27;1.27	1.84	-3.68	0.04463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15435	0.0372	N	0.12920	0.275	0.09310	N	1	B;P	0.39216	0.187;0.664	B;B	0.38562	0.152;0.276	T	0.10474	-1.0628	9	0.26408	T	0.33	.	0.9805	0.01435	0.2551:0.1753:0.3951:0.1745	.	524;408	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	G	524;408	ENSP00000374185:W524G;ENSP00000415453:W408G	ENSP00000374185:W524G	W	-	1	0	ZNF841	57261377	0.000000	0.05858	0.000000	0.03702	0.884000	0.51177	-4.934000	0.00168	-1.276000	0.02414	0.254000	0.18369	TGG		0.403	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		11	23	0	0	0	1	0	11	23				
CENPJ	55835	broad.mit.edu	37	13	25480675	25480675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25480675C>A	ENST00000381884.4	-	7	1686	c.1501G>T	c.(1501-1503)Gaa>Taa	p.E501*	CENPJ_ENST00000545981.1_Nonsense_Mutation_p.E501*	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	501					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTTACATTTTCTTTATTATTA	0.423																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1501-1503)Gaa>Taa		centromere protein J							73.0	76.0	75.0					13																	25480675		2203	4300	6503	SO:0001587	stop_gained	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480675C>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1501G>T	13.37:g.25480675C>A	ENSP00000371308:p.Glu501*					CENPJ_ENST00000545981.1_Nonsense_Mutation_p.E501*	p.E501*	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1686	-		Lung SC(185;0.0225)|Breast(139;0.0602)	501					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Nonsense_Mutation	SNP	ENST00000381884.4	37	c.1501G>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	36	5.885338	0.97068	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	.	.	.	5.82	4.98	0.66077	.	0.197824	0.44285	D	0.000475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.6982	0.62593	0.0:0.9252:0.0:0.0748	.	.	.	.	X	501	.	ENSP00000371308:E501X	E	-	1	0	CENPJ	24378675	1.000000	0.71417	0.993000	0.49108	0.440000	0.31957	2.870000	0.48451	1.474000	0.48178	0.655000	0.94253	GAA		0.423	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		27	54	1	0	7.41945e-09	1	8.8016e-09	27	54				
LRP2	4036	broad.mit.edu	37	2	170063458	170063458	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170063458T>G	ENST00000263816.3	-	39	7057	c.6772A>C	c.(6772-6774)Att>Ctt	p.I2258L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2258					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCCTTGCAATTATATCTAAA	0.433																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6772-6774)Att>Ctt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						140.0	141.0	140.0					2																	170063458		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063458T>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6772A>C	2.37:g.170063458T>G	ENSP00000263816:p.Ile2258Leu						p.I2258L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	7057	-			2258					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6772A>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367382	0.82463	.	.	ENSG00000081479	ENST00000263816	D	0.92965	-3.14	5.89	5.89	0.94794	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96071	0.8720	M	0.83312	2.635	0.80722	D	1	D	0.60575	0.988	D	0.69654	0.965	D	0.96206	0.9149	10	0.56958	D	0.05	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	2258	P98164	LRP2_HUMAN	L	2258	ENSP00000263816:I2258L	ENSP00000263816:I2258L	I	-	1	0	LRP2	169771704	1.000000	0.71417	0.832000	0.32986	0.563000	0.35712	6.302000	0.72788	2.246000	0.74042	0.533000	0.62120	ATT		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		45	86	0	0	0	1	0	45	86				
TF	7018	broad.mit.edu	37	3	133485143	133485143	+	Missense_Mutation	SNP	T	T	C	rs142116896		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133485143T>C	ENST00000402696.3	+	12	1837	c.1352T>C	c.(1351-1353)gTg>gCg	p.V451A	TF_ENST00000264998.3_Missense_Mutation_p.V324A	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	451	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	ATAGCAGTGGTGAAGAAATCA	0.493																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1351-1353)gTg>gCg		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						215.0	209.0	211.0					3																	133485143		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133485143T>C		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1352T>C	3.37:g.133485143T>C	ENSP00000385834:p.Val451Ala					TF_ENST00000264998.3_Missense_Mutation_p.V324A	p.V451A	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			12	1837	+			451			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1352T>C	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.607605	0.28623	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.13307	2.6;2.6	4.87	3.71	0.42584	.	0.153716	0.64402	N	0.000018	T	0.28034	0.0691	M	0.74647	2.275	0.46458	D	0.999051	P	0.37101	0.582	P	0.54140	0.743	T	0.02263	-1.1186	10	0.34782	T	0.22	-23.1378	6.2205	0.20679	0.0:0.2652:0.0:0.7348	.	451	P02787	TRFE_HUMAN	A	451;324	ENSP00000385834:V451A;ENSP00000264998:V324A	ENSP00000264998:V324A	V	+	2	0	TF	134967833	1.000000	0.71417	0.780000	0.31762	0.138000	0.21146	2.754000	0.47532	0.991000	0.38814	0.379000	0.24179	GTG		0.493	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		72	100	0	0	0	1	0	72	100				
IL12A-AS1	101928376	broad.mit.edu	37	3	159818743	159818743	+	RNA	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159818743G>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		CGAAGTCACCGAACTCTCCAT	0.493																																						ENST00000497452.1																			0																																																			0							g.chr3:159818743G>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818743G>A														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.493	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			50	90	0	0	0	1	0	50	90				
EIF3A	8661	broad.mit.edu	37	10	120816463	120816463	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120816463C>T	ENST00000369144.3	-	13	2194	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	EIF3A_ENST00000541549.1_Silent_p.K655K	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTTCTTGATTCTTTAGGCGTT	0.348																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(2065-2067)aaG>aaA		eukaryotic translation initiation factor 3, subunit A							172.0	146.0	155.0					10																	120816463		2202	4299	6501	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120816463C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2067G>A	10.37:g.120816463C>T						EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Silent_p.K655K	p.K689K	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	13	2194	-		Lung NSC(174;0.094)|all_lung(145;0.123)	689			Glu-rich.|Interaction with EIF3B.		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.2067G>A	CCDS7608.1																																																																																				0.348	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		11	22	0	0	0	1	0	11	22				
CDH11	1009	broad.mit.edu	37	16	65016055	65016055	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:65016055G>T	ENST00000268603.4	-	8	1764	c.1149C>A	c.(1147-1149)ttC>ttA	p.F383L	CDH11_ENST00000394156.3_Missense_Mutation_p.F383L|CDH11_ENST00000566827.1_Missense_Mutation_p.F257L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	383	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGGGGCCAAGAACATAGGGG	0.532			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1147-1149)ttC>ttA		cadherin 11, type 2, OB-cadherin (osteoblast)							159.0	133.0	142.0					16																	65016055		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016055G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1149C>A	16.37:g.65016055G>T	ENSP00000268603:p.Phe383Leu	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Missense_Mutation_p.F257L|CDH11_ENST00000268603.4_Missense_Mutation_p.F383L	p.F383L			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1602	-		Ovarian(137;0.0973)	383			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1149C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713873	0.68730	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.74106	-0.81;-0.81	5.76	2.17	0.27698	Cadherin (2);Cadherin-like (1);	0.044063	0.85682	D	0.000000	D	0.82719	0.5098	H	0.94423	3.535	0.46416	D	0.99903	P;P	0.46706	0.802;0.883	B;P	0.50860	0.337;0.652	T	0.82450	-0.0451	10	0.87932	D	0	.	5.5423	0.17045	0.5266:0.0:0.4734:0.0	.	383;383	P55287-2;P55287	.;CAD11_HUMAN	L	383;383;366	ENSP00000268603:F383L;ENSP00000377711:F383L	ENSP00000268603:F383L	F	-	3	2	CDH11	63573556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.339000	0.43965	0.833000	0.34828	0.655000	0.94253	TTC		0.532	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		41	53	1	0	6.2361e-21	1	8.5756e-21	41	53				
TEX14	56155	broad.mit.edu	37	17	56682459	56682459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56682459G>A	ENST00000240361.8	-	11	1319	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.R406*|TEX14_ENST00000389934.3_Nonsense_Mutation_p.R406*			Q8IWB6	TEX14_HUMAN	testis expressed 14	412	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGGCACTCGAGTCAGGTCC	0.478																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(1216-1218)Cga>Tga		testis expressed 14							115.0	92.0	100.0					17																	56682459		2203	4300	6503	SO:0001587	stop_gained	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56682459G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1234C>T	17.37:g.56682459G>A	ENSP00000240361:p.Arg412*					TEX14_ENST00000240361.8_Nonsense_Mutation_p.R412*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.R406*	p.R406*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			11	1333	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		412			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	c.1216C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	37	6.088549	0.97271	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.5	3.34	0.38264	.	0.463445	0.20633	N	0.088550	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2075	14.2336	0.65911	0.0:0.2842:0.7158:0.0	.	.	.	.	X	412;406;406	.	ENSP00000240361:R412X	R	-	1	2	TEX14	54037458	0.997000	0.39634	0.994000	0.49952	0.918000	0.54935	2.968000	0.49224	1.299000	0.44798	0.555000	0.69702	CGA		0.478	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			21	38	0	0	0	1	0	21	38				
DNAH8	1769	broad.mit.edu	37	6	38913287	38913287	+	Missense_Mutation	SNP	C	C	T	rs577374411		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38913287C>T	ENST00000359357.3	+	78	11655	c.11401C>T	c.(11401-11403)Cgc>Tgc	p.R3801C	DNAH8_ENST00000441566.1_Missense_Mutation_p.R3765C|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4018C|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3801					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAACCCTATCGCTGGATCCT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		17716	0.001		0.0	False		,,,				2504	0.0					ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11401-11403)Cgc>Tgc		dynein, axonemal, heavy chain 8							114.0	106.0	109.0					6																	38913287		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38913287C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11401C>T	6.37:g.38913287C>T	ENSP00000352312:p.Arg3801Cys					RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4018C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3765C	p.R3801C							78	11655	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11401C>T		.	.	.	.	.	.	.	.	.	.	C	17.77	3.470828	0.63625	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08807	3.05;3.05;3.05	5.69	4.74	0.60224	Dynein heavy chain (1);	0.117766	0.56097	D	0.000022	T	0.17704	0.0425	M	0.65975	2.015	0.51767	D	0.999938	D;D	0.76494	0.999;0.999	P;D	0.64877	0.886;0.93	T	0.00178	-1.1951	10	0.66056	D	0.02	.	15.4761	0.75481	0.2282:0.7718:0.0:0.0	.	3765;3801	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	C	4006;4006;3801;3765	ENSP00000333363:R4006C;ENSP00000352312:R3801C;ENSP00000402294:R3765C	ENSP00000333363:R4006C	R	+	1	0	DNAH8	39021265	0.915000	0.31059	0.963000	0.40424	0.961000	0.63080	1.915000	0.39976	2.693000	0.91896	0.561000	0.74099	CGC		0.483	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		60	23	0	0	0	1	0	60	23				
TTF1	7270	broad.mit.edu	37	9	135277008	135277008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135277008G>A	ENST00000334270.2	-	2	1240	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	401			R -> Q (in dbSNP:rs3739916).		chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCAGACACTCGTGCCCTTTTG	0.453																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1201-1203)Cga>Tga		transcription termination factor, RNA polymerase I							224.0	184.0	197.0					9																	135277008		2203	4300	6503	SO:0001587	stop_gained	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277008G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1201C>T	9.37:g.135277008G>A	ENSP00000333920:p.Arg401*						p.R401*	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1240	-		Myeloproliferative disorder(178;0.204)	401		R -> Q (in dbSNP:rs3739916).			A1L160|Q4VXF3|Q58EY2|Q6P5T5	Nonsense_Mutation	SNP	ENST00000334270.2	37	c.1201C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864247	0.71949	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	.	.	.	4.95	-6.85	0.01681	.	57.353600	0.00166	N	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	10.4661	0.44609	0.0:0.1471:0.6084:0.2445	.	.	.	.	X	401	.	ENSP00000245588:R401X	R	-	1	2	TTF1	134266829	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.161000	0.01278	-1.199000	0.02666	-0.714000	0.03626	CGA		0.453	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		29	72	0	0	0	1	0	29	72				
LRIF1	55791	broad.mit.edu	37	1	111493955	111493955	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111493955T>C	ENST00000369763.4	-	2	1941	c.1551A>G	c.(1549-1551)acA>acG	p.T517T	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AAGTAACAGTTGTTGCATCAA	0.388																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1549-1551)acA>acG		ligand dependent nuclear receptor interacting factor 1							138.0	136.0	136.0					1																	111493955		2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111493955T>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1551A>G	1.37:g.111493955T>C						LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	p.T517T	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1941	-			517					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.1551A>G	CCDS30800.1																																																																																				0.388	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		29	79	0	0	0	1	0	29	79				
CRB1	23418	broad.mit.edu	37	1	197390754	197390754	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197390754T>C	ENST00000367400.3	+	6	1931	c.1796T>C	c.(1795-1797)cTt>cCt	p.L599P	CRB1_ENST00000538660.1_Missense_Mutation_p.L599P|CRB1_ENST00000535699.1_Missense_Mutation_p.L530P|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.L487P|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.L80P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	599	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTACTCCACTTGAAAGTGAT	0.438																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1795-1797)cTt>cCt		crumbs homolog 1 (Drosophila)							119.0	112.0	114.0					1																	197390754		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390754T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1796T>C	1.37:g.197390754T>C	ENSP00000356370:p.Leu599Pro					CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.L487P|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.L530P|CRB1_ENST00000538660.1_Missense_Mutation_p.L599P|CRB1_ENST00000544212.1_Missense_Mutation_p.L80P	p.L599P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1931	+			599			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1796T>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	8.385	0.838486	0.16891	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.96	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.73164	0.3552	N	0.19112	0.55	0.23611	N	0.997293	B;P;P;P;P	0.50617	0.213;0.824;0.824;0.786;0.937	B;B;B;B;P	0.47705	0.218;0.442;0.301;0.243;0.555	T	0.62153	-0.6914	9	0.31617	T	0.26	.	11.9925	0.53184	0.0:0.0672:0.0:0.9327	.	599;530;487;248;599	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	P	530;599;599;487;80;248	ENSP00000438786:L530P;ENSP00000438091:L599P;ENSP00000356370:L599P;ENSP00000356369:L487P;ENSP00000444556:L80P	ENSP00000356369:L487P	L	+	2	0	CRB1	195657377	0.984000	0.35163	0.004000	0.12327	0.007000	0.05969	4.428000	0.59894	1.083000	0.41159	0.528000	0.53228	CTT		0.438	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		27	72	0	0	0	1	0	27	72				
ZNF451	26036	broad.mit.edu	37	6	57015659	57015659	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57015659A>C	ENST00000370706.4	+	11	2995	c.2751A>C	c.(2749-2751)caA>caC	p.Q917H	RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|ZNF451_ENST00000491832.2_Splice_Site_p.Q917H|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Intron	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	917					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGGCTTTCAAGGTACGGTTA	0.353																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.e11+1		zinc finger protein 451							120.0	109.0	112.0					6																	57015659		1810	4070	5880	SO:0001630	splice_region_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57015659A>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2752+1A>C	6.37:g.57015659A>C						RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Splice_Site_p.Q917_splice|RP11-203B9.4_ENST00000585792.1_RNA	p.Q917_splice	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		11	2995	+	Lung NSC(77;0.145)		917					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Splice_Site	SNP	ENST00000370706.4	37	c.2752_splice	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467276	0.43839	.	.	ENSG00000112200	ENST00000370706;ENST00000491832	T;T	0.07114	3.22;3.22	5.77	4.59	0.56863	.	0.070287	0.64402	D	0.000011	T	0.03871	0.0109	M	0.62723	1.935	0.80722	D	1	B;B;B	0.29671	0.254;0.254;0.254	B;B;B	0.21917	0.037;0.037;0.037	T	0.17018	-1.0383	10	0.46703	T	0.11	-18.9102	8.4733	0.32999	0.7332:0.1366:0.0:0.1303	.	917;917;917	Q9Y4E5;E9PH99;Q4KMR5	ZN451_HUMAN;.;.	H	917	ENSP00000359740:Q917H;ENSP00000421645:Q917H	ENSP00000359740:Q917H	Q	+	3	2	ZNF451	57123618	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.314000	0.59166	1.096000	0.41439	0.528000	0.53228	CAA		0.353	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	Missense_Mutation	5	83	0	0	0	1	0	5	83				
FAT3	120114	broad.mit.edu	37	11	92532534	92532534	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92532534G>T	ENST00000298047.6	+	9	6372	c.6355G>T	c.(6355-6357)Gtg>Ttg	p.V2119L	FAT3_ENST00000525166.1_Missense_Mutation_p.V1969L|FAT3_ENST00000409404.2_Missense_Mutation_p.V2119L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2119	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATGGAGAAGTGACCTATGT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6355-6357)Gtg>Ttg		FAT atypical cadherin 3							48.0	48.0	48.0					11																	92532534		1909	4127	6036	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532534G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6355G>T	11.37:g.92532534G>T	ENSP00000298047:p.Val2119Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.V1969L|FAT3_ENST00000409404.2_Missense_Mutation_p.V2119L	p.V2119L			Q8TDW7	FAT3_HUMAN			9	6372	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2119			Cadherin 19.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6355G>T		.	.	.	.	.	.	.	.	.	.	G	20.7	4.041660	0.75732	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02472	4.28;4.28;4.28	5.9	5.9	0.94986	.	.	.	.	.	T	0.13157	0.0319	L	0.50919	1.6	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00115	-1.2038	9	0.56958	D	0.05	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	2119	Q8TDW7-3	.	L	2119;2119;1969	ENSP00000298047:V2119L;ENSP00000387040:V2119L;ENSP00000432586:V1969L	ENSP00000298047:V2119L	V	+	1	0	FAT3	92172182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.787000	0.99055	2.806000	0.96561	0.655000	0.94253	GTG		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	14	1	0	0.00116845	1	0.00122532	6	14				
LRIF1	55791	broad.mit.edu	37	1	111494605	111494606	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111494605_111494606insA	ENST00000369763.4	-	2	1290_1291	c.900_901insT	c.(898-903)tttacgfs	p.T301fs	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AGAGATGGCGTAAAAGGCTGTA	0.337																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(898-903)ttcgccfs		ligand dependent nuclear receptor interacting factor 1																																				SO:0001589	frameshift_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494605_111494606insA	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.901dupT	1.37:g.111494609_111494609dupA	ENSP00000358778:p.Thr301fs					LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	p.A301fs	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1290_1291	-			301					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Frame_Shift_Ins	INS	ENST00000369763.4	37	c.900_901insT	CCDS30800.1																																																																																				0.337	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		15	55						15	55	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:115537600_115537601insA	ENST00000369522.3	+	32	3131_3132	c.2891_2892insA	c.(2890-2895)agaaaafs	p.RK964fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.RK964fs|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2890-2892)aaafs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115537600_115537601insA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2901dupA	1.37:g.115537610_115537610dupA	ENSP00000358535:p.Arg964fs					SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs|SYCP1_ENST00000477590.1_3'UTR	p.K964fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	32	3131_3132	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	964			Arg/Lys-rich (basic).		O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.2891_2892insA	CCDS879.1																																																																																				0.356	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		20	51						20	51	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217270	143217271	+	lincRNA	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:143217270_143217271insT	ENST00000438000.1	+	0	59																											TAAAGCAAAAAAAAAACTAATA	0.287																																						ENST00000438000.1																			0																																																			0							g.chr1:143217270_143217271insT																													1.37:g.143217270_143217271insT														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.287	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			6	10						6	10	---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	23980888	23980889	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:23980888_23980889insT	ENST00000238789.5	-	25	3820_3821	c.3477_3478insA	c.(3475-3480)aaagatfs	p.D1160fs	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1160						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTTCATCTTTTTTTAAAT	0.386																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(3475-3480)aaatgafs		ATPase family, AAA domain containing 2B																																				SO:0001589	frameshift_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23980888_23980889insT	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3478dupA	2.37:g.23980895_23980895dupT	ENSP00000238789:p.Asp1160fs					ATAD2B_ENST00000474583.1_5'UTR	p.*1160fs	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			25	3820_3821	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1160					B9ZVQ5|Q6ZNA6|Q8N9E7	Frame_Shift_Ins	INS	ENST00000238789.5	37	c.3477_3478insA	CCDS46227.1																																																																																				0.386	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		11	37						11	37	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168101562	168101563	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168101562_168101563insA	ENST00000409195.1	+	9	3749_3750	c.3660_3661insA	c.(3661-3663)aaafs	p.K1221fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.K999fs|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.K1221fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1046					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGAAGTTTTGAAAAAGATCAA	0.312																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(3658-3663)ttaaaafs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101562_168101563insA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3665dupA	2.37:g.168101567_168101567dupA	ENSP00000386840:p.Lys1221fs					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.LK998fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.LK1220fs|XIRP2_ENST00000409728.1_Intron	p.LK1220fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	3749_3750	+			1045					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.3660_3661insA	CCDS42769.1																																																																																				0.312	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		7	30						7	30	---	---	---	---
OLA1	29789	broad.mit.edu	37	2	174987962	174987963	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:174987962_174987963insT	ENST00000409546.1	-	7	1363_1364	c.733_734insA	c.(733-735)atgfs	p.M245fs	OLA1_ENST00000428402.2_Frame_Shift_Ins_p.M225fs|OLA1_ENST00000284719.3_Frame_Shift_Ins_p.M225fs|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000344357.5_Frame_Shift_Ins_p.M67fs					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CAAGTAGACCATTGGTTTTGAA	0.317																																						ENST00000284719.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.(673-675)ggtfs		Obg-like ATPase 1																																				SO:0001589	frameshift_variant	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:174987962_174987963insT		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.734dupA	2.37:g.174987964_174987964dupT	ENSP00000386350:p.Met245fs					OLA1_ENST00000344357.5_Frame_Shift_Ins_p.G67fs|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000428402.2_Frame_Shift_Ins_p.G225fs|OLA1_ENST00000409546.1_Frame_Shift_Ins_p.G245fs	p.G225fs	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN			7	919_920	-			225						Frame_Shift_Ins	INS	ENST00000409546.1	37	c.673_674insA																																																																																					0.317	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		8	10						8	10	---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198359410	198359411	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:198359410_198359411insT	ENST00000388968.3	-	5	843_844	c.576_577insA	c.(574-579)aaagttfs	p.V193fs	HSPD1_ENST00000345042.2_Frame_Shift_Ins_p.V193fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	193					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TTTCTTCCAACTTTTTTCATTG	0.327																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(574-579)aattggfs		heat shock 60kDa protein 1 (chaperonin)																																				SO:0001589	frameshift_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198359410_198359411insT	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.577dupA	2.37:g.198359416_198359416dupT	ENSP00000373620:p.Val193fs					HSPD1_ENST00000345042.2_Frame_Shift_Ins_p.NW192fs	p.NW192fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		5	843_844	-			192					B2R5M6|B7Z712|Q38L19|Q9UCR6	Frame_Shift_Ins	INS	ENST00000388968.3	37	c.576_577insA	CCDS33357.1																																																																																				0.327	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		15	38						15	38	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19889187	19889187	+	lincRNA	DEL	A	A	-			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:19889187delA	ENST00000511431.1	+	0	408																											aTAtggtgccaaaacccagga	0.557																																						ENST00000511431.1																			0																																																			0							g.chr4:19889187delA																													4.37:g.19889187delA														0	408	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.557	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			2	4						2	4	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1878497	1878499	+	In_Frame_Del	DEL	GGC	GGC	-	rs570462700	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1878497_1878499delGGC	ENST00000505790.1	-	6	1600_1602	c.1144_1146delGCC	c.(1144-1146)gccdel	p.A382del	IRX4_ENST00000513692.1_In_Frame_Del_p.A382del|IRX4_ENST00000231357.2_In_Frame_Del_p.A382del|IRX4_ENST00000505938.1_5'Flank	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	382	Poly-Ala.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TCAGGGAggtggcggcggcggcg	0.739																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(1144-1146)del		iroquois homeobox 4				23,21,1962		8,0,7,8,5,975							0.6			4	3,77,4640		1,0,1,12,53,2293	no	codingComplex	IRX4	NM_016358.2		9,0,8,20,58,3268	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6949,2.1934,1.8436				26,98,6602				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1878497_1878499delGGC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.1144_1146delGCC	5.37:g.1878506_1878508delGGC	ENSP00000423161:p.Ala382del					IRX4_ENST00000231357.2_In_Frame_Del_p.A382del|IRX4_ENST00000513692.1_In_Frame_Del_p.A382del	p.A382del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	6	1600_1602	-			382			Poly-Ala.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.1144_1146delGCC	CCDS3867.1																																																																																				0.739	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		2	4						2	4	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984088	123984089	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:123984088_123984089insT	ENST00000306315.5	-	4	2423_2424	c.1988_1989insA	c.(1987-1989)aagfs	p.K663fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.K236fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	663							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TAAGGCCCTTCTTTTTGCCAGA	0.51																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1987-1989)aaafs		zinc finger protein 608																																				SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123984088_123984089insT	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1989dupA	5.37:g.123984093_123984093dupT	ENSP00000307746:p.Lys663fs					ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.K236fs	p.K663fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	2423_2424	-		all_cancers(142;0.186)|Prostate(80;0.081)	663					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Ins	INS	ENST00000306315.5	37	c.1988_1989insA	CCDS34219.1																																																																																				0.510	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		33	83						33	83	---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154396021	154396021	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154396021delA	ENST00000435029.4	+	1	2762	c.2602delA	c.(2602-2604)aaafs	p.K868fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	868	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGTGCCCTGAAATATTTGAT	0.473																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2602-2604)aafs		kinesin family member 4B							76.0	76.0	76.0					5																	154396021		2203	4300	6503	SO:0001589	frameshift_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396021delA	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2602delA	5.37:g.154396021delA	ENSP00000387875:p.Lys868fs						p.K868fs	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2762	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	868			Interaction with PRC1 (By similarity).			Frame_Shift_Del	DEL	ENST00000435029.4	37	c.2602delA	CCDS47324.1																																																																																				0.473	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			25	49						25	49	---	---	---	---
TRBV9	28586	broad.mit.edu	37	7	142242313	142242314	+	RNA	INS	-	-	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142242313_142242314insC	ENST00000390363.2	-	0	0				TRBV5-3_ENST00000390362.1_RNA					T cell receptor beta variable 9																		CAGGGCCGAGTCCCCCAGCTCC	0.525																																						ENST00000390362.1																			0																																																			0							g.chr7:142242313_142242314insC	L36092		7q34	2012-02-07			ENSG00000211716	ENSG00000211716		"""T cell receptors / TRB locus"""	12246	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV1S1A1N1, TCRBV9S1			OTTHUMG00000158527		7.37:g.142242318_142242318dupC														0	309_310	-									RNA	INS	ENST00000390363.2	37																																																																																						0.525	TRBV9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351233.1	NG_001333		17	27						17	27	---	---	---	---
EPHA1-AS1	285965	broad.mit.edu	37	7	143208738	143208738	+	RNA	DEL	C	C	-	rs34333193|rs397889580	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143208738delC	ENST00000429289.1	+	0	263				OR10AC1P_ENST00000439431.2_RNA	NR_033897.1				EPHA1 antisense RNA 1																		CCTGCGGTGGCCCCGGCGTGC	0.667													CCC|CCCC|CCC|insertion	3782	0.755192	0.9682	0.7767	5008	,	,		16064	0.5942		0.7207	False		,,,				2504	0.6534					ENST00000429289.1																			0																																																			0							g.chr7:143208738delC	AL833583		7q35	2012-10-12	2012-08-15		ENSG00000229153	ENSG00000229153		"""Long non-coding RNAs"""	27799	non-coding RNA	RNA, long non-coding			"""EPHA1 antisense RNA 1 (non-protein coding)"""				Standard	NR_033897		Approved		uc003wda.4		OTTHUMG00000155893		7.37:g.143208738delC								NR_033897.1						0	263	+									RNA	DEL	ENST00000429289.1	37																																																																																						0.667	EPHA1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000342151.1	NR_033897		5	6						5	6	---	---	---	---
MYOZ1	58529	broad.mit.edu	37	10	75393727	75393728	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75393727_75393728insT	ENST00000359322.4	-	5	962_963	c.598_599insA	c.(598-600)atgfs	p.M200fs	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GCCAAGTTCCATTTTTTGCTGG	0.515																																						ENST00000359322.4																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(598-600)ggafs		myozenin 1																																				SO:0001589	frameshift_variant	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75393727_75393728insT	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.599dupA	10.37:g.75393733_75393733dupT	ENSP00000352272:p.Met200fs						p.G200fs	NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN			5	962_963	-	Prostate(51;0.0112)		200						Frame_Shift_Ins	INS	ENST00000359322.4	37	c.598_599insA	CCDS7330.1																																																																																				0.515	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			25	69						25	69	---	---	---	---
CTSF	8722	broad.mit.edu	37	11	66335859	66335859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66335859delC	ENST00000310325.5	-	1	208	c.99delG	c.(97-99)gggfs	p.G33fs	CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGACGGCGGCCCCCAGGCCT	0.781																																						ENST00000310325.5																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(97-99)ggfs		cathepsin F							1.0	1.0	1.0					11																	66335859		429	1257	1686	SO:0001589	frameshift_variant	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66335859delC	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.99delG	11.37:g.66335859delC	ENSP00000310832:p.Gly33fs						p.G33fs	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN			1	208	-			33					B2R964|O95240|Q9NSU4|Q9UKQ5	Frame_Shift_Del	DEL	ENST00000310325.5	37	c.99delG	CCDS8144.1																																																																																				0.781	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		2	4						2	4	---	---	---	---
PEX5	5830	broad.mit.edu	37	12	7338794	7338794	+	5'Flank	DEL	G	G	-	rs34548221|rs78202591|rs397851127		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7338794delG	ENST00000455147.2	+	0	0				RP11-273B20.3_ENST00000543061.1_RNA|RP11-273B20.3_ENST00000545794.1_RNA	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						cctgttgagaggggggactga	0.502													?|GGGGGG|GGGGG|unsure	1968	0.392971	0.1278	0.6556	5008	,	,		21746	0.3998		0.5109	False		,,,				2504	0.4366					ENST00000545794.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr12:7338794delG	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542			12.37:g.7338794delG	Exception_encountered					RP11-273B20.3_ENST00000543061.1_RNA								0	279	-								A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	RNA	DEL	ENST00000455147.2	37		CCDS44823.1																																																																																				0.502	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		3	4						3	4	---	---	---	---
TSPAN8	7103	broad.mit.edu	37	12	71523156	71523157	+	Frame_Shift_Ins	INS	-	-	T	rs139952436		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71523156_71523157insT	ENST00000393330.2	-	11	1166_1167	c.614_615insA	c.(613-615)aatfs	p.N205fs	TSPAN8_ENST00000247829.3_Frame_Shift_Ins_p.N205fs|TSPAN8_ENST00000546561.1_Frame_Shift_Ins_p.N205fs|TSPAN8_ENST00000552128.1_Frame_Shift_Ins_p.N122fs			P19075	TSN8_HUMAN	tetraspanin 8	205					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTATAATCAAATTTTTTGCCAA	0.267																																						ENST00000393330.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(613-615)attfs		tetraspanin 8																																				SO:0001589	frameshift_variant	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71523156_71523157insT	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.615dupA	12.37:g.71523162_71523162dupT	ENSP00000377003:p.Asn205fs					TSPAN8_ENST00000552128.1_Frame_Shift_Ins_p.I122fs|TSPAN8_ENST00000546561.1_Frame_Shift_Ins_p.I205fs|TSPAN8_ENST00000247829.3_Frame_Shift_Ins_p.I205fs	p.I205fs			P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		11	1166_1167	-			205					B2R7T7|Q9BS78	Frame_Shift_Ins	INS	ENST00000393330.2	37	c.614_615insA	CCDS8999.1																																																																																				0.267	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		8	22						8	22	---	---	---	---
SPERT	220082	broad.mit.edu	37	13	46276932	46276933	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:46276932_46276933insA	ENST00000310521.1	+	2	178_179	c.98_99insA	c.(97-102)agaaaafs	p.RK33fs	SPERT_ENST00000378966.3_5'Flank	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	33						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AATTATACAAGAAAAAGAGATA	0.426																																						ENST00000310521.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(97-99)aaafs		spermatid associated																																				SO:0001589	frameshift_variant	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46276932_46276933insA	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.103dupA	13.37:g.46276937_46276937dupA	ENSP00000309189:p.Arg33fs						p.K33fs	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	178_179	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	33					A8K8I5|Q8NHV2	Frame_Shift_Ins	INS	ENST00000310521.1	37	c.98_99insA	CCDS9399.1																																																																																				0.426	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		9	22						9	22	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109707398	109707399	+	Frame_Shift_Ins	INS	-	-	A	rs570510297		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:109707398_109707399insA	ENST00000357550.2	+	25	3028_3029	c.2987_2988insA	c.(2986-2991)ttaaaafs	p.LK996fs	MYO16_ENST00000356711.2_Frame_Shift_Ins_p.LK996fs|MYO16_ENST00000457511.2_Frame_Shift_Ins_p.LK508fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTACAGTTATTAAAAAAGAAAG	0.396																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(2986-2988)taafs		myosin XVI																																				SO:0001589	frameshift_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109707398_109707399insA		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2993dupA	13.37:g.109707404_109707404dupA	ENSP00000350160:p.Leu996fs					MYO16_ENST00000357550.2_Frame_Shift_Ins_p.*996fs|MYO16_ENST00000457511.2_Frame_Shift_Ins_p.*508fs	p.*996fs	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		26	3113_3114	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		996			Myosin head-like 2.			Frame_Shift_Ins	INS	ENST00000357550.2	37	c.2987_2988insA	CCDS32008.1																																																																																				0.396	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		8	19						8	19	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|RP6-65G23.3_ENST00000557691.1_lincRNA	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			7	13						7	13	---	---	---	---
LOC102723493	102723493	broad.mit.edu	37	15	67293441	67293442	+	lincRNA	INS	-	-	G	rs58545302|rs397965476|rs529477018	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:67293441_67293442insG	ENST00000558071.1	-	0	114																											GCGGCAACGGCGGGGGGACATA	0.584													GGGGGG|GGGGGG|GGGGGGG|insertion	219	0.04373	0.0008	0.0014	5008	,	,		15079	0.1716		0.002	False		,,,				2504	0.0429					ENST00000558071.1																			0																																																			0							g.chr15:67293441_67293442insG																													15.37:g.67293447_67293447dupG														0	114	-									RNA	INS	ENST00000558071.1	37																																																																																						0.584	RP11-798K3.2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000417454.1			4	4						4	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-	rs374222520		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_ENST00000358164.5_In_Frame_Del_p.L1022del|ITGAL_ENST00000433423.2_In_Frame_Del_p.L340del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1106					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCATCGGGGGGCTGCTGCTGCTG	0.601																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3298-3303)ggg>gg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001651	inframe_deletion	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531249_30531251delGCT		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300_3302delGCT	16.37:g.30531258_30531260delGCT	ENSP00000349252:p.Leu1106del					ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	p.GL1100del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			30	3480_3482	+			1100					O43746|Q45H73|Q96HB1|Q9UBC8	In_Frame_Del	DEL	ENST00000356798.6	37	c.3300_3302delGCT	CCDS32433.1																																																																																				0.601	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			10	226						10	226	---	---	---	---
MAP2K4	6416	broad.mit.edu	37	17	11998922	11998923	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11998922_11998923insA	ENST00000353533.5	+	4	487_488	c.424_425insA	c.(424-426)caafs	p.Q142fs	MAP2K4_ENST00000415385.3_Frame_Shift_Ins_p.Q153fs|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Q -> L (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|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)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.Q142L(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TGAAAAAGAACAAAAACAACTT	0.337			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	p.0?(10)|p.Q142L(1)|p.?(1)	breast(4)|ovary(4)|biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(457-459)aaafs		mitogen-activated protein kinase kinase 4																																				SO:0001589	frameshift_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like 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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:11998922_11998923insA	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.429dupA	17.37:g.11998927_11998927dupA	ENSP00000262445:p.Gln142fs					MAP2K4_ENST00000353533.5_Frame_Shift_Ins_p.K142fs	p.K153fs			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	5	510_511	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	142			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Frame_Shift_Ins	INS	ENST00000353533.5	37	c.457_458insA	CCDS11162.1																																																																																				0.337	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			19	52						19	52	---	---	---	---
GINS1	9837	broad.mit.edu	37	20	25405867	25405868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25405867_25405868insA	ENST00000262460.4	+	5	445_446	c.351_352insA	c.(352-354)aaafs	p.K118fs	GINS1_ENST00000429262.2_Frame_Shift_Ins_p.IK158fs	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	118					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TTAATAATTATAAAAGATCTCT	0.347																																						ENST00000262460.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(349-354)taaaagfs		GINS complex subunit 1 (Psf1 homolog)																																				SO:0001589	frameshift_variant	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25405867_25405868insA	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.355dupA	20.37:g.25405871_25405871dupA	ENSP00000262460:p.Lys118fs					GINS1_ENST00000429262.2_Frame_Shift_Ins_p.K158fs	p.*K117fs	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN			5	445_446	+			117					Q9NQE2|Q9NQI7	Frame_Shift_Ins	INS	ENST00000262460.4	37	c.351_352insA	CCDS33451.1																																																																																				0.347	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		17	26						17	26	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56093849	56093850	+	Frame_Shift_Ins	INS	-	-	T	rs555474647		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56093849_56093850insT	ENST00000608263.1	-	4	1684_1685	c.1023_1024insA	c.(1021-1026)ccctttfs	p.F342fs	CTCFL_ENST00000371196.2_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000502686.2_Frame_Shift_Ins_p.F80fs|CTCFL_ENST00000608903.1_Frame_Shift_Ins_p.F80fs|CTCFL_ENST00000429804.3_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000608158.1_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000433949.3_Frame_Shift_Ins_p.F137fs|CTCFL_ENST00000243914.3_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000609232.1_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000539382.1_Frame_Shift_Ins_p.F137fs|CTCFL_ENST00000423479.3_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000422869.2_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000608425.1_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000432255.2_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000481655.2_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000608440.1_Frame_Shift_Ins_p.F342fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	342					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GAACATTTAAAGGGTTTCTCAT	0.47																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1021-1026)ccttaafs		CCCTC-binding factor (zinc finger protein)-like																																				SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56093849_56093850insT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1023_1024insA	20.37:g.56093849_56093850insT	ENSP00000476783:p.Phe342fs					CTCFL_ENST00000539382.1_Frame_Shift_Ins_p.*137fs|CTCFL_ENST00000422869.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000429804.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000433949.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000502686.2_Frame_Shift_Ins_p.*80fs|CTCFL_ENST00000422109.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000371196.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000432255.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000243914.3_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000423479.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000481655.1_5'UTR	p.*342fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		4	1684_1685	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		342					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Ins	INS	ENST00000608263.1	37	c.1023_1024insA	CCDS13459.1																																																																																				0.470	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		39	98						39	98	---	---	---	---
CHDC2	286464	broad.mit.edu	37	X	36090024	36090025	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:36090024_36090025insA	ENST00000313548.4	+	3	312_313	c.126_127insA	c.(127-129)aaafs	p.K43fs		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	43						integral component of membrane (GO:0016021)											CTGCTTCAATTAAAAAGACATA	0.366																																						ENST00000378660.1																			0											c.(124-129)ataaaafs		calponin homology domain containing 2																																				SO:0001589	frameshift_variant	286464							g.chrX:36090024_36090025insA	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.131dupA	X.37:g.36090029_36090029dupA	ENSP00000324767:p.Lys43fs					CHDC2_ENST00000313548.4_Frame_Shift_Ins_p.IK42fs	p.IK42fs							3	314_315	+									Frame_Shift_Ins	INS	ENST00000313548.4	37	c.126_127insA	CCDS14238.1																																																																																				0.366	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		18	29						18	29	---	---	---	---
NXF4	55999	broad.mit.edu	37	X	101820639	101820640	+	RNA	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101820639_101820640insT	ENST00000360035.2	+	0	1258					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						ACTTCATTCTATTTTTTGTTAT	0.48																																						ENST00000360035.2																			0				endometrium(2)|lung(8)	10																																														0							g.chrX:101820639_101820640insT	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101820645_101820645dupT								NR_002216.1						0	1258	+									RNA	INS	ENST00000360035.2	37																																																																																						0.480	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			18	30						18	30	---	---	---	---
